Sample records for infantile malignant osteopetrosis

  1. Infantile osteopetrosis associated with osteomyelitis.

    PubMed

    Machado, Cintia de Vasconcellos; Siquara da Rocha, Maria Celina Barreiros; Telles, Paloma Dias da Silva

    2015-01-01

    Osteopetrosis is a rare inherited disorder characterised by the inability to reabsorb and remodel bone due to an osteoclast dysfunction. An increase in bone mass and density results in severe skeletal malformation and bone marrow failure, which may be fatal. The aim of this study was to report a case of infantile osteopetrosis in a 6-year-old boy, who primarily complained of dental problems. The patient developed an osteomyelitis after a primary tooth extraction. We also reviewed the literature about this genetic bone disease, since the management of dental problems of these patients can be a challenge to the dentist. The diagnosis, clinical and radiographic features and treatment of the case were discussed in this work. PMID:25743862

  2. Superoxide generation in transformed B-lymphocytes from patients with severe, malignant osteopetrosis.

    PubMed

    Yang, S; Ries, W L; Key, L L

    1999-09-01

    Severe, malignant osteopetrosis is a disease characterized by osteoclasts that fail to resorb bone. Serious defects in the ability of white blood cells to eradicate infectious agents confound the clinical course. Defective superoxide generation by neutrophils, monocytes, and lymphocytes contributes to this inability to fight infection. To elucidate the mechanisms resulting in the defective superoxide generation observed in osteopetrotic leukocytes, gene expression, translocation, and phosphorylation of the major components that form the functional NADPH oxidase complex were studied in transformed B-lymphocytes. The expression of the p47 subunit of NADPH oxidase was reduced in B-lymphocytes collected from osteopetrotic patients compared to those from controls. Phosphorylation and translocation of p47 to the cell membrane after PMA stimulation was similar in B-lymphocytes from both patients and normal controls. However, total amount of p47 phosphorylation and translocation was reduced in patient samples. This was further supported by the experiment using p47 antisense oligonucleotide. The other major components of the oxidase (p91, p22, p67) were found to be present at normal levels. Thus, the reduction in p47 expression results in reduced ability to assemble a functional NADPH oxidase complex at the membrane of lymphocytes from osteopetrotic patients. This defect translates into reduced superoxide generation and an increased propensity for infection. PMID:10544947

  3. Demonstration of an osteoblast defect in two cases of human malignant osteopetrosis. Correction of the phenotype after bone marrow transplant.

    PubMed Central

    Lajeunesse, D; Busque, L; Ménard, P; Brunette, M G; Bonny, Y

    1996-01-01

    Osteopetrosis is an inherited disorder characterized by bone sclerosis due to reduced bone resorption. Here we report that human osteopetrotic osteoblast-like (Ob) cells express a defective phenotype in primary cultures in vitro, and that bone marrow transplant (BMT) corrects osteoblast function. DNA analysis at polymorphic short-tandem repeat loci from donor, recipient, and primary Ob-like cells pre-BMT and 2 yr post-BMT revealed that Ob were still of recipient origin post-BMT. Osteopetrotic Ob-like cells obtained pre-BMT showed normal and abnormal 1,25(OH)2D3-induced alkaline phosphatase (ALPase) and osteocalcin production, respectively, and failed to produce macrophage colony-stimulating factor (M-CSF) in response to IL-1a and TNF-alpha. These parameters were all normalized in primary Ob-like cells prepared 2 yr post-BMT. X-linked clonality analysis at the human androgen receptor (HUMARA) locus revealed that osteoblasts showed a polyclonal and an oligoclonal derivation pre- and post-BMT respectively, indicating that a limited number of progenitor reconstituted this population. Because osteoblasts were still of recipient origin post-BMT, this suggests that functional osteoclasts, due to the replacement of hematopoeitic cells, provided a local microenvironment in vivo triggering the differentiation and/or recruitment of a limited number of functional osteoblasts. PMID:8878435

  4. An Adolescent Case of Osteopetrosis with Portal Hypertension as well as Mandibula Osteomyelitis.

    PubMed

    Leblebisatan, Goksel; Celik, Umit; Temiz, Fatih; Celik, Tamer; Aydin, Fahri; Istifli, Fatma Levent; Leblebisatan, Serife; Komur, Mustafa

    2015-06-01

    Osteopetrosis is a clinical syndrome characterized by the failure of osteoclasts to resorb bone. Excessive bone density can interfere with vital tissues and structures, causing serious problems of the body. Hematopoietic insufficiency, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment may develop in a patient with osteopetrosis. Herein, we present an adolescent girl diagnosed with non-infantile type of osteopetrosis with rare complications of the disease like mandibular osteomyelitis and portal hypertension (PHT) without liver cirrhosis. To our knowledge, this is the first pediatric case with osteopetrosis related PHT. PMID:25825576

  5. Osteopetrosis: Radiological & Radionuclide Imaging

    PubMed Central

    Sit, Cherry; Agrawal, Kanhaiyalal; Fogelman, Ignac; Gnanasegaran, Gopinath

    2015-01-01

    Osteopetrosis is a rare inherited bone disease where bones harden and become abnormally dense. While the diagnosis is clinical, it also greatly relies on appearance of the skeleton radiographically. X-ray, radionuclide bone scintigraphy and magnetic resonance imaging have been reported to identify characteristics of osteopetrosis. We present an interesting case of a 59-year-old man with a history of bilateral hip fractures. He underwent 99mTc-methylene diphosphonate whole body scan supplemented with single-photon emission computed tomography/computed tomography of spine, which showed increased uptake in the humeri, tibiae and femora, which were in keeping with osteopetrosis. PMID:25589808

  6. Genetics Home Reference: Osteopetrosis

    MedlinePLUS

    ... develop. Researchers often refer to this condition as OL-EDA-ID, an acronym derived from each of ... a few cases of intermediate autosomal osteopetrosis and OL-EDA-ID have been reported in the medical ...

  7. Malignant transformation of infantile hemangioma to angiosarcoma: response to chemotherapy with bevacizumab.

    PubMed

    Jeng, Michael R; Fuh, Beng; Blatt, Julie; Gupta, Anita; Merrow, Arnold C; Hammill, Adrienne; Adams, Denise

    2014-11-01

    We describe a child initially diagnosed with multi-focal infantile hemangioma (cutaneous, hepatic, pulmonary), a benign vascular lesion, which underwent malignant transformation to angiosarcoma. The use of anti-angiogenic agents, such as bevacizumab, an anti-vascular endothelial growth factor (VEGF) antibody, has been reported in adults with angiosarcoma. Treatment with chemotherapy (gemcitabine and docetaxel) and bevacizumab resulted in disease response with progression free survival of 12 months. This report describes the response to chemotherapy and bevacizumab in a child with angiosarcoma and highlights the potential for malignant transformation of benign vascular lesions and the need for careful monitoring. PMID:24740626

  8. Biological characterization of avian osteopetrosis.

    PubMed

    Banes, A J; Smith, R E

    1977-06-01

    Chicks infected as 12-day-old embryos with an end-point purified derivative of avian myeloblastosis virus developed a rapidly progressive osteopetrosis that manifested within 1 week of hatching. A detailed comparison of osteopetrotic chicks and normal hatchmates revealed the following. (i) Osteopetrotic chicks exhibited a stunting syndrome, growing at a mean rate that was 26% of the control rats. (ii) At autopsy, the mass of the lymphoid organs was reduced, whereas the mass of the heart, pancreas, kidneys, lungs, brain, liver, and bones of osteopetrotic chicks was increased. Edema was likely responsible for most of the increase in organ weight. (iii) Infected chicks exhibited a normochromic, normocytic anemia that was virus dose dependent and was not required for the development of osteopetrosis. (iv) Bone collagen content was normal. (v) Osteopetrotic bone was initially hypomineralized, but later became more fully mineralized. (vi) The concentrations of alpha, beta, and gamma globulins in the plasma were elevated in osteopetrotic chicks, whereas albumin concentration was decreased. (vii) The level of plasma alkaline phosphatase was elevated in osteopetrotic chicks, yet the level of acid phosphatase was unchanged. (viii) Body and bone temperatures were unchanged. PMID:197009

  9. Osteopetrosis: An interpretation of its pathogenesis

    SciTech Connect

    Krook, L.; Whalen, J.P.; Dorfman, H.D.; Norman, A.; Nunez, E.A.

    1981-12-01

    Two children with osteopetrosis were studied radiographically and histologically. It is concluded that the histopathologic finding of excessive retentions of chondro-osseous tissue and failure of remodeling of bones is the result of retarded osteocytic osteolysis and osteocytic chondrolysis.

  10. Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis?

    PubMed Central

    Pangrazio, Alessandra; Puddu, Alessandro; Oppo, Manuela; Valentini, Maria; Zammataro, Luca; Vellodi, Ashok; Gener, Blanca; Llano-Rivas, Isabel; Raza, Jamal; Atta, Irum; Vezzoni, Paolo; Superti-Furga, Andrea; Villa, Anna; Sobacchi, Cristina

    2014-01-01

    Autosomal Recessive Osteopetrosis is a genetic disorder characterized by increased bone density due to lack of resorption by the osteoclasts. Genetic studies have widely unraveled the molecular basis of the most severe forms, while cases of intermediate severity are more difficult to characterize, probably because of a large heterogeneity. Here, we describe the use of exome sequencing in the molecular diagnosis of 2 siblings initially thought to be affected by “intermediate osteopetrosis”, which identified a homozygous mutation in the CTSK gene. Prompted by this finding, we tested by Sanger sequencing 25 additional patients addressed to us for recessive osteopetrosis and found CTSK mutations in 4 of them. In retrospect, their clinical and radiographic features were found to be compatible with, but not typical for, Pycnodysostosis. We sought to identify modifier genes that might have played a role in the clinical manifestation of the disease in these patients, but our results were not informative. In conclusion, we underline the difficulties of differential diagnosis in some patients whose clinical appearance does not fit the classical malignant or benign picture and recommend that CTSK gene be included in the molecular diagnosis of high bone density conditions. PMID:24269275

  11. Infantile Spasms

    MedlinePLUS

    NINDS Infantile Spasms Information Page Synonym(s): West Syndrome Table of Contents (click to jump to sections) What are Infantile Spasms? Is ... being done? Clinical Trials Organizations What are Infantile Spasms? An infantile spasm (IS) is a specific type ...

  12. Osteopetrosis of the mandible masquerading as tubercular osteomyelitis

    PubMed Central

    Sharma, Subramanya S; Saravanan, C; Sathyabama, V; Satish, C

    2013-01-01

    Osteopetrosis is a rare congenital (autosomal type) disorder of the skeletal system. Several variants have been described in the literature with grossly variant prognosis and clinical behaviour. Several reports of intractable osteomyelitis of the jaw bones secondary to osteopetrosis, particularly the mandible, have been published widely. However, there is no published report of the complete mandible sequestrating de novo, in the literature. An overview of this spectrum of sclerotic bone disease, its presentation in the oro-facial region, the diagnostic challenge it poses and the management dilemma it offers to the maxillofacial surgeon is discussed and a protocol for managing this disease effectively is presented. A clinical illustration of the complexities of management of osteopetrosis-induced osteomyelitis of jaw bones is demonstrated with a very rare case in which the entire mandible had sequestrated. PMID:23314447

  13. Administration of general anaesthesia to a paediatric patient with osteopetrosis

    PubMed Central

    Ozer, Ayse Belin; Erhan, Omer L; Demirel, Ismail; Ozcan, Sibel

    2012-01-01

    Osteopetrosis is a rare clinical syndrome characterised by the failure of bone resorption and remodelling, which causes multiple anatomical and physiological impairments. Pathological fractures can occur, in addition to, haemathological and metabolic impairments. Our patient was a 9-year-old girl diagnosed with osteopetrosis in the neonatal period. She had severe anaemia, thrombocytopaenia, hypocalcaemia, as well as growth and development delays. In this case report, the administration of general anaesthesia to the patient for a biopsy of the scalp and skull and a partial maxillectomy is presented. PMID:23188843

  14. [Infantile hemangiomas].

    PubMed

    Giachetti, Ana; Sojo, M Magdalena; García-Mónaco, Ricardo

    2013-12-01

    Infantile hemangiomas are the most common benign tumors of infancy. While most of them have an uncomplicated course, between 10 and 15% are at risk for complications, especially during the proliferative phase, and can cause impairment of vital functions or produce permanent cosmetic disfigurement. In this update we delineate the natural history of infantile hemangiomas, with special emphasis on identifying those that require special diagnostic evaluations and multidisciplinary and closer follow-up, reviewing the study and treatment indications and current treatment modalities. PMID:24196769

  15. Clinical and Radiological Findings of Autosomal Dominant Osteopetrosis Type II: A Case Report

    PubMed Central

    Kant, Priyanka; Sharda, Neelkamal; Bhowate, Rahul R.

    2013-01-01

    Osteopetrosis is a rare inherited genetic disease characterized by sclerosis of the skeleton caused by the absence or malfunction of osteoclasts. Three distinct forms of the disease have been recognized, autosomal dominant osteopetrosis being the most common. Autosomal dominant osteopetrosis exhibits a heterogeneous trait with milder symptoms, often at later childhood or adulthood. The aim of this case report is to present the clinical and radiographic features of a 35-year-old female patient with autosomal dominant osteopetrosis type II who exhibited features of chronic generalised periodontitis, and the radiographs revealed generalised osteosclerosis and hallmark radiographic features of ADO type II, that is, “bone-within-bone appearance” and “Erlenmeyer-flask deformity.” PMID:24260721

  16. Cáncer infantil: Tratamiento

    Cancer.gov

    Cáncer infantil: Tratamiento Tumores cerebrales infantiles Descripción del tratamiento de tumores de cerebro y de médula espinal infantiles (PDQ®) [ pacientes ] [ profesionales ] Resumen de información revisada por expertos acerca del tratamiento de tumores

  17. A Deletion Mutation in Bovine SLC4A2 is Associated with Osteopetrosis in Red Angus Cattle

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Osteopetrosis is a skeletal disorder characterized by the formation of overly dense bones in affected humans and animals, resulting from a deficiency in the number and/or function of bone-resorbing osteoclast cells. In cattle, osteopetrosis can either be induced during gestation by viral infection ...

  18. Osteopetrosis and Its Relevance for the Discovery of New Functions Associated with the Skeleton

    PubMed Central

    Coudert, Amélie E.; de Vernejoul, Marie-Christine; Muraca, Maurizio

    2015-01-01

    Osteopetrosis is a rare genetic disorder characterized by an increase of bone mass due to defective osteoclast function. Patients typically displayed spontaneous fractures, anemia, and in the most severe forms hepatosplenomegaly and compression of cranial facial nerves leading to deafness and blindness. Osteopetrosis comprises a heterogeneous group of diseases as several forms are known with different models of inheritance and severity from asymptomatic to lethal. This review summarizes the genetic and clinical features of osteopetrosis, emphasizing how recent studies of this disease have contributed to understanding the central role of the skeleton in the whole body physiology. In particular, the interplay of bone with the stomach, insulin metabolism, male fertility, the immune system, bone marrow, and fat is described.

  19. Rapid skeletal turnover in a radiographic mimic of osteopetrosis.

    PubMed

    Whyte, Michael P; Madson, Katherine L; Mumm, Steven; McAlister, William H; Novack, Deborah V; Blair, Jo C; Helliwell, Timothy R; Stolina, Marina; Abernethy, Laurence J; Shaw, Nicholas J

    2014-12-01

    Among the high bone mass disorders, the osteopetroses reflect osteoclast failure that prevents skeletal resorption and turnover, leading to reduced bone growth and modeling and characteristic histopathological and radiographic findings. We report an 11-year-old boy with a new syndrome that radiographically mimics osteopetrosis (OPT), but features rapid skeletal turnover. He presented at age 21 months with a parasellar, osteoclast-rich giant cell granuloma. Radiographs showed a dense skull, generalized osteosclerosis and cortical thickening, medullary cavity narrowing, and diminished modeling of tubular bones. His serum alkaline phosphatase was >5000 IU/L (normal <850 IU/L). After partial resection, the granuloma re-grew but then regressed and stabilized during 3 years of uncomplicated pamidronate treatment. His hyperphosphatasemia transiently diminished, but all bone turnover markers, especially those of apposition, remained elevated. Two years after pamidronate therapy stopped, bone mineral density (BMD) Z-scores reached +9.1 and +5.8 in the lumbar spine and hip, respectively, and iliac crest histopathology confirmed rapid bone remodeling. Serum multiplex biomarker profiling was striking for low sclerostin. Mutation analysis was negative for activation of lipoprotein receptor-related protein 4 (LRP4), LRP5, or TGF?1, and for defective sclerostin (SOST), osteoprotegerin (OPG), RANKL, RANK, SQSTM1, or sFRP1. Microarray showed no notable copy number variation. Studies of his nonconsanguineous parents were unremarkable. The etiology and pathogenesis of this unique syndrome are unknown. PMID:24919763

  20. MT2013-31:Allo BMT for Metabolic Disorders, Osteopetrosis and Males With Rett Syndrome

    ClinicalTrials.gov

    2014-07-18

    Mucopolysaccharidosis I; Mucopolysaccharidosis II; Mucopolysaccharidosis VI; Mucopolysaccharidosis VII; Hurler Syndrome; Hunter Syndrome; Maroteaux Lamy Syndrome; Sly Syndrome; Glycoprotein Metabolic Disorders; Alpha Mannosidosis; Fucosidosis; Aspartylglucosaminuria; Adrenoleukodystrophy; Peroxisomal Disorders; Osteopetrosis; Rett Syndrome; Sphingolipidosis; Gangliosidosis; Globoid Cell Leukodystrophy; Metachromatic Leukodystrophy; Niemann Pick B; Niemann Pick C Subtype 2; I-cell Disease

  1. A Case of Cavernous Sinus Thrombophlebitis and Meningitis as a Complication in Osteopetrosis

    PubMed Central

    Chung, Hyun Chul; Park, So Hyun; Kim, Eun Sook; Kim, Young Il; Lee, Sun Ho

    2014-01-01

    Osteopetrosis is a rare genetic bone disease characterized by increased bone density but prone to breakage due to defective osteoclastic function. Among two primary types of autosomal dominant osteopetrosis (ADO), osteopetrosis type II is characterized by sclerosis of bones, predominantly involving the spine, the pelvis, and the skull base. Fragility of bones and dental abscess are leading complications. This report presents a case of osteopetrosis in a 52-years-old female, which was complicated by the development of cavernous sinus thrombophlebitis and meningitis. She was suffered from multiple fractures since one year ago. Laboratory data revealed elevated serum levels of tartrate resistant acid phosphatase (TRAP) without carbonic anhydrase II DNA mutation. A thoracolumbar spine X-ray showed, typical findings of ADO type II (ADO II; Albers-Schönberg disease), prominent vertebral endplates so called the 'rugger jersey spine'. Her older sister also showed same typical spine appearance. We report a case of ADO II with cavernous sinus thrombophlebitis and meningitis that was successfully treated with long-term antibiotics with right sphenoidotomy. PMID:25247162

  2. Cutaneous Manifestation of Metastatic Infantile Choriocarcinoma

    PubMed Central

    Brooks, Timothy; Nolting, Laura

    2014-01-01

    Infantile choriocarcinoma is a highly malignant rare germ cell tumor that arises from the placenta. Simultaneous intraplacental choriocarcinoma involving both mother and infant is extremely rare. Cutaneous metastasis in infantile choriocarcinoma is even rarer with only a few case reports available. Here we describe a case of a female neonate who presented to the ED with a rapidly growing and bleeding vascular lesion to her right cheek. She was eventually diagnosed by biopsy with metastatic choriocarcinoma. In addition to the cutaneous tumor, she also had metastatic disease in her lungs. Her mother was subsequently found to have choriocarcinoma with metastatic disease to the lungs as well. PMID:25197602

  3. Infantilizing Autism.

    PubMed Central

    Stevenson, Jennifer L.; Harp, Bev; Gernsbacher, Morton Ann

    2014-01-01

    When members of the public envision the disability of autism, they most likely envision a child, rather than an adult. In this empirically based essay, three authors, one of whom is an autistic self-advocate, analyzed the role played by parents, charitable organizations, the popular media, and the news industry in infantilizing autism. Parents portrayed the face of autism to be that of a child 95% of the time on the homepages of regional and local support organizations. Nine of the top 12 autism charitable organizations restricted descriptions of autism to child-referential discourse. Characters depicted as autistic were children in 90% of fictional books and 68% of narrative films and television programs. The news industry featured autistic children four times as often as they featured autistic adults in contemporary news articles. The cyclical interaction between parent-driven autism societies, autism fundraising charities, popular media, and contemporary news silences adult self-advocates by denying their very existence. Society's overwhelming proclivity for depicting autism as a disability of childhood poses a formidable barrier to the dignity and well-being of autistic people of all ages. PMID:25520546

  4. Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect

    PubMed Central

    Bliznetz, Elena A; Tverskaya, Svetlana M; Zinchenko, Rena A; Abrukova, Anna V; Savaskina, Ekaterina N; Nikulin, Maxim V; Kirillov, Alexander G; Ginter, Evgeny K; Polyakov, Alexander V

    2009-01-01

    The rare malignant disorder autosomal recessive osteopetrosis (OPTB) is one of the most prevalent autosomal recessive diseases in the Chuvash Republic of Russia. The purpose of this study was to determine the underlying molecular cause of osteopetrosis in Chuvashiya and to reveal the factors causing the unusual high frequency of the disease in this region. Having assumed a founder effect, we performed linkage disequilibrium (LD) mapping of the OPTB locus at the TCIRG1 region and found a unique splice site mutation c.807+5G>A in all Chuvashian OPTB patients studied. We then analyzed the mutational change in mRNA and detected an intron insertion within the mutant transcript, resulting in a frameshift and premature stop-codon formation (p.Leu271AspfsX231). A decreased expression of the mutant transcript was also detected, which may have been the result of nonsense-mediated decay. Real-time qPCR and MLPA® melting curve analysis-based systems were designed and used for c.807+5G>A mutation screening. In addition to analyzing the gene frequency in Chuvashiya, we also estimated three other populations in the Volga-Ural region (Mari, Udmurt and Bashkir). We found a 1.68% prevalence in Chuvashiya (calculated disease frequency, 1/3500 newborns) and a 0.84% in the Mari population (1/14?000 newborns). The haplotype analysis revealed that all OPTB cases in Chuvashians and Marians originated from a single mutational event and the age of the mutation in Chuvashians was estimated to be approximately 890 years. PMID:19172990

  5. An Infant with Splenohepatomegaly: A Rare Cause

    PubMed Central

    Kalyanasundaram, Kathiravan; Jegadeesan, Podhini; Mohan, Sibi Chakravarthy; Ponnurangam, Vinoth N

    2014-01-01

    Osteopetrosis is a rare congenital disorder of bone resorption, caused by failure of osteoclasts to reabsorb immature bone. Malignant infantile osteopetrosis presents in early life with generalized osteosclerosis and decreased bone marrow spaces, resulting in anemia, splenohepatomegaly due to extramedullary hematopoiesis, cranial nerve compression, and growth failure. It is a fatal condition with death occurring within the first year of life. Bone marrow transplant remains the only curative treatment. We present a report of an infant with splenohepatomegaly, who was diagnosed with malignant infantile osteopetrosis. PMID:25250197

  6. The murine mutation osteopetrosis is in the coding region of the macrophage colony stimulating factor gene

    Microsoft Academic Search

    Hisahiro Yoshida; Shin-Ichi Hayashi; Takahiro Kunisada; Minetaro Ogawa; Satomi Nishikawa; Hitoshi Okamura; Tetsuo Sudo; Leonard D. Shultz; Shin-Ichi Nishikawa

    1990-01-01

    MICE homozygous for the recessive mutation osteopetrosis (op) on chromosome 3 have a restricted capacity for bone remodelling, and are severely deficient in mature macrophages and osteoclasts1-3. Both cell populations originate from a common haemopoietic progenitor. As op\\/op mice are not cured by transplants of normal bone marrow cells4, the defects in op\\/op mice may be associated with an abnormal

  7. Teatro infantil en Colombia

    E-print Network

    Gutié rrez, Alfonso

    2001-04-01

    adultos muy importante. En Bogotá el Festival Iberoamericano de Teatro ha servido para confrontar los trabajos realizados, y el Festival de Santa Marta incentiva a varias regiones de la costa atlántica. El festival de Manizales desde su origen ha... infantil. Se conocía que había varias personas que hacían títeres en reuniones infantiles o en la radio difusora nacional hacían teatro infantil que dirigió el profesor Pulido Téllez. 186 LATIN AMERICAN THEATRE REVIEW Un buen día aparecen los grupos en...

  8. Questes Contemporneas Educao Infantil

    E-print Network

    Floeter, Sergio Ricardo

    Questões Contemporâneas Educação Infantil e Sociedade Alexandre Fernandez Vaz Caroline Machado Momm (Orgs.) #12;Educação Infantil e Sociedade: questões contemporâneas #12;Entidades que realizaram e apoiaram o Curso de Especialização em Educação Infantil MEC/SEB-UFSC/NDI Realização: Governo Federal

  9. Osteopetrosis with Micro-lacunar Resorption due to Defective Integrin Organization

    PubMed Central

    Blair, Harry C; Yaroslavskiy, Beatrice B; Robinson, Lisa J; Mapara, Markus Y; Pangrazio, Alessandra; Guo, Lida; Chen, Ka; Vezzoni, Paolo; Tolar, Jakub; Orchard, Paul J

    2010-01-01

    We used in vitro differentiation of monocytes to characterize the cellular defect in a type of osteopetrosis with minimally functional osteoclasts, where defects associated with common causes of osteopetrosis were excluded by gene sequencing. Monocytes from blood of a 28 year old subject were differentiated in media with RANKL and CSF-1. Cell fusion, acid compartments within cells, and TRAP activity were normal. However, the osteoclasts made abnormally small pits on dentine. Phalloidin labeling showed that the cell attachments lacked the peripheral ring structure that supports lacunar resorption. Instead, the osteoclasts had clusters of podosomes near the center of cell attachments. Antibody to the ?v?3 integrin pair or to the C-terminal of ?3 did not label podosomes, but antibody to ?v labeled them. Western blots using antibody to the N-terminal of ?3 showed a protein of reduced size. Integrins ?1 and ?5 were upregulated, but, in contrast to observations in ?3 defects, ?2 was not increased. The rho GTP exchange protein Vav3, a key attachment organizing protein, did not localize normally with peripheral attachment structures. Vav3 forms of 70 kD and 90 kD were identified on Western blots. However, the proteins ?3 integrin, Vav3, Plekhm1 and Src, implicated in attachment defects, had normal exon sequences. In this new type of osteopetrosis, the integrin organizing complex is dysfunctional, and at least two attachment proteins may be partially degraded. PMID:19546854

  10. Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations

    PubMed Central

    Guerrini, Matteo M.; Sobacchi, Cristina; Cassani, Barbara; Abinun, Mario; Kilic, Sara S.; Pangrazio, Alessandra; Moratto, Daniele; Mazzolari, Evelina; Clayton-Smith, Jill; Orchard, Paul; Coxon, Fraser P.; Helfrich, Miep H.; Crockett, Julie C.; Mellis, David; Vellodi, Ashok; Tezcan, Ilhan; Notarangelo, Luigi D.; Rogers, Michael J.; Vezzoni, Paolo; Villa, Anna; Frattini, Annalisa

    2008-01-01

    Autosomal-Recessive Osteopetrosis (ARO) comprises a heterogeneous group of bone diseases for which mutations in five genes are known as causative. Most ARO are classified as osteoclast-rich, but recently a subset of osteoclast-poor ARO has been recognized as due to a defect in TNFSF11 (also called RANKL or TRANCE, coding for the RANKL protein), a master gene driving osteoclast differentiation along the RANKL-RANK axis. RANKL and RANK (coded for by the TNFRSF11A gene) also play a role in the immune system, which raises the possibility that defects in this pathway might cause osteopetrosis with immunodeficiency. From a large series of ARO patients we selected a Turkish consanguineous family with two siblings affected by ARO and hypogammaglobulinemia with no defects in known osteopetrosis genes. Sequencing of genes involved in the RANKL downstream pathway identified a homozygous mutation in the TNFRSF11A gene in both siblings. Their monocytes failed to differentiate in vitro into osteoclasts upon exposure to M-CSF and RANKL, in keeping with an osteoclast-intrinsic defect. Immunological analysis showed that their hypogammaglobulinemia was associated with impairment in immunoglobulin-secreting B cells. Investigation of other patients revealed a defect in both TNFRSF11A alleles in six additional, unrelated families. Our results indicate that TNFRSF11A mutations can cause a clinical condition in which severe ARO is associated with an immunoglobulin-production defect. PMID:18606301

  11. Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis.

    PubMed

    Bonapace, Giuseppe; Moricca, Maria; Talarico, Valentina; Graziano, Francesca; Pensabene, Licia; Miniero, Roberto

    2014-11-20

    BackgroundOsteopetrosis is a rare genetic disorder characterized by increased bone density due to a defective osteoclast¿s bone resorption. Three clinical forms can be identified based on severity, age of onset and inheritance: the dominant benign form (ADO), the intermediate form (IRO) and the recessive severe form (ARO). Several genes have been involved in the pathogenesis of these different types of osteopetrosis. Many experimental evidences point out on a specific role for CLCN7, the gene encoding the chloride channel protein subunit alfa and for TCIRG1, the gene encoding an osteoclast specific subunit of the vacuolar proton pump. Mutations in CLCN7 gene have been associated to the complete spectrum of osteopetrosis ranging from ARO to IRO and even to ADO type II. On the other hand, mutations in TCIRG1 gene account for more than 50% of cases of ARO. It is then evident that the malignant osteopetrosis is characterized by a great molecular and clinical heterogeneity often making the final diagnosis difficult to achieve.MethodsWe performed a complete clinical, biochemical and molecular analysis by PCR and direct sequencing, of a novel case of osteopetrosis with inconsistent clinical phenotype.ResultsThe patient, who cannot be ascribed to any of the ADO, ARO or IRO groups, carried two novel mutations in compound heterozygosis in the CLCN7 gene. The first was the missense mutation c. 948C¿>¿T on exon 10 that produces an Arg to Cys change, while the second was the IVS11¿+¿5G¿>¿A splicing mutation that resides on the donor splice site of intron 11 and distrupts the canonical splice site.ConclusionOur data a) Demonstrate that the unusual clinical presentation observed in our patient with a mild clinical onset evolving towards a more serious clinical picture, is associated to two novel mutations on CLCN7 gene.b) Support the already described clinical and molecular heterogeneity of the malignant osteopetrosisc) Suggest that, performing a molecular diagnosis of osteopetrosis with inconsistent clinical presentation these two novel mutations have to be first considered. PMID:25410126

  12. Instantánea del cáncer infantil

    Cancer.gov

    Información sobre la incidencia y mortalidad del cáncer en los niños, tendencias en el financiamiento del NCI para la investigación del cáncer infantil; así como ejemplos de actividades y adelantos en la investigación relevantes para esta población.

  13. RANK-Dependent Autosomal Recessive Osteopetrosis: Characterization of Five New Cases With Novel Mutations

    PubMed Central

    Pangrazio, Alessandra; Cassani, Barbara; Guerrini, Matteo M; Crockett, Julie C; Marrella, Veronica; Zammataro, Luca; Strina, Dario; Schulz, Ansgar; Schlack, Claire; Kornak, Uwe; Mellis, David J; Duthie, Angela; Helfrich, Miep H; Durandy, Anne; Moshous, Despina; Vellodi, Ashok; Chiesa, Robert; Veys, Paul; Lo Iacono, Nadia; Vezzoni, Paolo; Fischer, Alain; Villa, Anna; Sobacchi, Cristina

    2012-01-01

    Autosomal recessive osteopetrosis (ARO) is a genetically heterogeneous disorder attributed to reduced bone resorption by osteoclasts. Most human AROs are classified as osteoclast rich, but recently two subsets of osteoclast-poor ARO have been recognized as caused by defects in either TNFSF11 or TNFRSF11A genes, coding the RANKL and RANK proteins, respectively. The RANKL/RANK axis drives osteoclast differentiation and also plays a role in the immune system. In fact, we have recently reported that mutations in the TNFRSF11A gene lead to osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Here we present the characterization of five additional unpublished patients from four unrelated families in which we found five novel mutations in the TNFRSF11A gene, including two missense and two nonsense mutations and a single-nucleotide insertion. Immunological investigation in three of them showed that the previously described defect in the B cell compartment was present only in some patients and that its severity seemed to increase with age and the progression of the disease. HSCT performed in all five patients almost completely cured the disease even when carried out in late infancy. Hypercalcemia was the most important posttransplant complication. Overall, our results further underline the heterogeneity of human ARO also deriving from the interplay between bone and the immune system, and highlight the prognostic and therapeutic implications of the molecular diagnosis. © 2012 American Society for Bone and Mineral Research PMID:22271396

  14. Update on infantile hemangiomas.

    PubMed

    Lee, Kachiu C; Bercovitch, Lionel

    2013-02-01

    Infantile hemangiomas are the most common tumors of infancy. The serendipitous discovery of the therapeutic efficacy of propranolol in the management of infantile hemangiomas has revolutionized the care and understanding of these lesions, and greatly improved the prognosis for a good cosmetic outcome. In addition, there has been an expansion of indications for treatment of hemangiomas, taking into account not only those hemangiomas that can cause airway compromise, amblyopia, and cardiac overload, but also those lesions that can lead to unsatisfactory cosmetic outcome or deformity after involution. Current concepts of pathogenesis of infantile hemangiomas, of segmental hemangiomas with systemic associations, of hepatic hemangiomas, and of the use of systemic and topical beta-blockers for the management of IH are all reviewed. PMID:23419763

  15. Generation of the first Autosomal Dominant Osteopetrosis Type II (ADO2) disease models

    PubMed Central

    Alam, Imranul; Gray, Amie K.; Chu, Kang; Ichikawa, Shoji; Mohammad, Khalid S.; Capannolo, Marta; Capulli, Mattia; Maurizi, Antonio; Muraca, Maurizio; Teti, Anna; Econs, Michael J.; Fattore, Andrea Del

    2013-01-01

    Autosomal Dominant Osteopetrosis Type II (ADO2) is a heritable osteosclerotic disorder dependent on osteoclast impairment. In most patients it results from heterozygous missense mutations in the chloride channel 7 (CLCN7) gene, encoding for a 2Cl?/1H+ antiporter. By a knock-in strategy inserting a missense mutation in the Clcn7 gene, our two research groups independently generated mouse models of ADO2 on different genetic backgrounds carrying the homolog of the most frequent heterozygous mutation (p.G213R) in the Clcn7 gene found in humans. Our results demonstrate that the heterozygous model holds true presenting with higher bone mass, increased numbers of poorly resorbing osteoclasts and a lethal phenotype in the homozygous state. Considerable variability is observed in the heterozygous mice according with the mouse background, suggesting that modifier genes could influence the penetrance of the disease gene. PMID:24185277

  16. Meox2Cre-mediated Disruption of CSF-1 Leads to Osteopetrosis and Osteocyte Defects

    PubMed Central

    Harris, Stephen E.; MacDougall, Mary; Horn, Diane; Woodruff, Kathleen; Zimmer, Stephanie N.; Rebel, Vivienne I.; Fajardo, Roberto; Feng, Jian Q.; Heinrich-Gluhak, Jelica; Harris, Marie A.; Werner, Sherry Abboud

    2012-01-01

    CSF-1, a key regulator of mononuclear phagocyte production, is highly expressed in the skeleton by osteoblasts/osteocytes and in a number of nonskeletal tissues such as uterus, kidney and brain. The spontaneous mutant op/op mouse has been the conventional model of CSF-1 deficiency and exhibits a pleiotropic phenotype characterized by osteopetrosis, and defects in hematopoiesis, fertility and neural function. Studies to further delineate the biologic effect of CSF-1 within various tissues have been hampered by the lack of suitable models. To address this issue, we generated CSF-1 floxed/floxed mice and demonstrate that Cre-mediated recombination using Meox2Cre, a Cre line expressed in epiblast during early embryogenesis, results in mice with ubiquitous CSF-1 deficiency (CSF-1KO). Homozygous CSF-1KO mice lacked CSF-1 in all tissues and displayed, in part, a similar phenotype to op/op mice that included: failure of tooth eruption, osteopetrosis, reduced macrophage densities in reproductive and other organs and altered hematopoiesis with decreased marrow cellularity, circulating monocytes and B cell lymphopoiesis. In contrast to op/op mice, CSF-1KO mice showed elevated circulating and splenic T cells. A striking feature in CSF-1KO mice was defective osteocyte maturation, bone mineralization and osteocyte-lacunar system that was associated with reduced dentin matrix protein 1 (DMP1) expression in osteocytes. CSF-1KO mice also showed a dramatic reduction in osteomacs along the endosteal surface that may have contributed to the hematopoietic and cortical bone defects. Thus, our findings show that ubiquitous CSF-1 gene deletion using a Cre-based system recapitulates the expected osteopetrotic phenotype. Moreover, results point to a novel link between CSF-1 and osteocyte survival/function that is essential for maintaining bone mass and strength during skeletal development. PMID:21958845

  17. Identification of potential microRNA-target pairs associated with osteopetrosis by deep sequencing, iTRAQ proteomics and bioinformatics.

    PubMed

    Ou, Minglin; Zhang, Xiaoqing; Dai, Yong; Gao, Jieying; Zhu, Mingsong; Yang, Xiangchun; Li, Yuchao; Yang, Ting; Ding, Min

    2014-05-01

    MicroRNAs aberrantly express in many human diseases including some metabolic bone disorders. They have been found to be associated with osteoclast differentiation and function, which makes them attractive candidates for the therapy of bone. However, the potential clinical application of microRNAs in therapeutics rests heavily upon our in-depth understanding of microRNAs and their targets. To identify potential microRNA-target pairs associated with osteopetrosis, we performed a system approach including deep sequencing, iTRAQ quantitative proteomics, and bioinformatics in the peripheral blood mononuclear cells (PBMCs) taken from patients with osteopetrosis and health donors. Notably, 123 differently expressed microRNAs, 173 differently expressed proteins, and 117 computationally predicted microRNA-target pairs with reciprocally expressed level in PBMCs were found in the two sample groups. Functional annotation identified that the microRNA-target pairs were involved in cell growth, differentiation, cellular signaling network, and the network highlighted the microRNA-target pair of has-miR-320a and ADP ribosylation factor 1 (Arf1) potentially associated with CLCN7 mutations in osteopetrosis. The pair of has-miR-320a and Arf1 was further verified by real-time PCR, western blot, and the interaction between has-miR-320a and its targeted sequence on the Arf1 mRNAs was confirmed by luciferase assay. Collectively, the present study established a new system approach for the investigation of microRNAs, and the microRNA-target pairs, particular has-miR-320a and Arf1, may have important roles in osteopetrosis. PMID:24084574

  18. Differential diagnosis of infantile hemangiomas.

    PubMed

    Perman, Marissa J; Castelo-Soccio, Leslie; Jen, Melinda

    2012-08-01

    1.Compare and contrast infantile hemangiomas with other vascular anomalies that may be confused clinically.2.Describe the vascular anomalies classification system according to the International Society for the Study of Vascular Anomalies (ISSVA), highlighting the differences between vascular tumors, such as infantile hemangiomas, and vascular malformations.3.Briefly review associated signs or syndromes found in the context of certain vascular anomalies.Infantile hemangiomas are the most common benign vascular tumor in infancy but may mimic many other types of vascular anomalies. In many cases, the appearance, time of onset, growth pattern, and consistency of infantile hemangiomas make the diagnosis straightforward (see "Pathogenesis of Infantile Hemangiomas" on p. 321). However, many other vascular lesions can appear quite similar to infantile hemangiomas, especially early in life, and at times this makes the correct diagnosis challenging. PMID:22881414

  19. Infantile hemangioma in four siblings.

    PubMed

    Couto, Rafael A; Hassanein, Aladdin H; Maclellan, Reid A; Greene, Arin K

    2013-01-01

    Infantile hemangioma is the most common tumor of infancy, affecting approximately 5.0% of Caucasians. We present the unlikely occurrence of four siblings with infantile hemangiomas; there was no family history of the tumor. One child was low birth weight, there was one set of twins, and three infants had multiple lesions. The estimated probability of four consecutive children having this phenotypic expression of infantile hemangioma is 1/4,232,804. PMID:22784313

  20. Exanthematous infantile psoriasis.

    PubMed

    Schubert, Barbara; Seitz, Cornelia S; Bröcker, Eva-Bettina; Hamm, Henning

    2007-08-01

    Childhood psoriasis is a disease with manifold clinical presentations which can make the correct diagnosis sometimes difficult. In a female infant, slightly itching, erythematous papules and plaques with discrete scaling spread over large parts of the integument starting from age three months. Histological examination supported the diagnosis of exanthematous infantile psoriasis. Topical treatment with dithranol in petrolatum led to slow clearance of the skin lesions. PMID:17659042

  1. As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene.

    PubMed

    Sobacchi, Cristina; Pangrazio, Alessandra; Lopez, Antonio González-Meneses; Gomez, Diego Pascual-Vaca; Caldana, Maria Elena; Susani, Lucia; Vezzoni, Paolo; Villa, Anna

    2014-07-01

    Mutations in the TCIRG1 gene, coding for a subunit of the osteoclast proton pump, are responsible for more than 50% of cases of human malignant autosomal recessive osteopetrosis (ARO), a rare inherited bone disease with increased bone density owing to a failure in bone resorption. A wide variety of mutations has been described, including missense, nonsense, small deletions/insertions, splice-site mutations, and large genomic deletions, all leading to a similar severe presentation. So far, to the best of our knowledge, no report of a mild phenotype owing to recessive TCIRG1 mutations is present neither in our series of more than 100 TCIRG1-dependent ARO patients nor in the literature. Here we describe an 8-year-old patient referred to us with a clinical diagnosis of ARO, based on radiological findings; of note, no neurological or hematological defects were present in this girl. Surprisingly, we identified a novel nucleotide change in intron 15 of the TCIRG1 gene at the homozygous state, leading to the production of multiple aberrant transcripts, but also, more importantly, of a limited amount of the normal transcript. Our results show that a low level of normal TCIRG1 protein can dampen the clinical presentation of TCIRG1-dependent ARO. On this basis, a small amount of protein might be sufficient to rescue, at least partially, the severe ARO phenotype, and this is particularly important when gene therapy approaches are considered. In addition, we would also recommend that the TCIRG1 gene be included in the molecular diagnosis of mild forms of human ARO. PMID:24535816

  2. Infantile hemangiomas: an update.

    PubMed

    Kwon, Eun-Kyung Mary; Seefeldt, Marcia; Drolet, Beth A

    2013-04-01

    Infantile hemangioma (IH) is a common vascular tumor of infancy. Although benign, infants with IH can experience complications including ulceration, visual and airway impairment, and residual scarring and disfigurement. It is often challenging for clinicians to predict which tumors are in need of systemic treatment. However, data from various demographic and other studies have revealed further insights into this tumor. This article reviews the identification, evaluation, and management of high-risk IHs, including the indications for treatment and the use of systemic treatments such as corticosteroids, ?-blockers, and vincristine. PMID:23338947

  3. Infantile and congenital hemangiomas.

    PubMed

    Liang, Marilyn G; Frieden, Ilona J

    2014-08-01

    Infantile hemangiomas (IHs) are the most common benign vascular tumors of infancy. Since they predominantly involute without significant residua, the majority do not require treatment. Indications for intervention include ulceration, prevention of disfigurement, and impairment of function or vital structures. Some IHs have associated structural anomalies. When and which IH to treat requires knowledge of the natural history and clinical findings of increased risk. Congenital hemangiomas (CHs) are fully formed at birth. They also differ from IHs in their histological and immunohistochemical findings and thus represent a distinct clinical entity. Their clinical characteristics and management are also discussed. PMID:25241092

  4. Intracranial infantile hemangiopericytoma.

    PubMed

    McHugh, Brian J; Baranoski, Jacob F; Malhotra, Ajay; Vortmeyer, Alexander O; Sze, Gordon; Duncan, Charles C

    2014-08-01

    Intracranial infantile hemangiopericytomas (HPCs) are exceedingly rare lesions. Only 11 cases have been previously reported in the literature. As such, little is known about the etiology, long-term prognosis, and optimal treatment paradigm. Clinically, they are consistently less aggressive than those in adults. The authors present the case of a 2-month-old boy with an intracranial HPC, review the available literature, discuss the evolving concepts of what defines an HPC, and offer a potential explanation to how HPC histology might relate to the clinical behavior of these lesions. PMID:24905842

  5. Infantile hemangiomas: A review

    PubMed Central

    Callahan, Alison B.; Yoon, Michael K.

    2012-01-01

    Infantile hemangiomas (IH) are the most common eyelid and orbital tumors of childhood. Although they are considered benign lesions that have a generally self-limited course, in the periocular region, they have the potential to cause amblyopia, strabismus, and severe disfigurement. The decision for treatment can be a source of anxiety for patients, parents, and physicians alike. There are numerous treatment modalities, including emerging therapies that may make treatment safer and more effective than ever before. This review discusses our current understanding of this disease, its management, and future therapies. PMID:23961007

  6. [Propranolol in infantile hemangiomas].

    PubMed

    Léauté-Labrèze, C

    2015-04-01

    Propranolol has been recently approved by health authorities to treat infantile haemangiomas (IH). Propranolol is indicated in infants less than 5months of age with an IH requiring systemic therapy: IH at life-threatening and/or functional risk, painful ulcerated IH and IH that may cause permanent disfigurement. Propranolol should be initiated by physicians who have expertise in the diagnosis, treatment and management of IH. In addition, the first intake and every escalation should be administrated in a controlled clinical setting where adequate facilities for handling of adverse reactions, including those requiring urgent measures, are available. Then a monthly monitoring with dose adjustment weight is mandatory by the family doctor. Parents should be informed of the risk of hypoglycaemia and bronchoconstriction, especially during respiratory infectious outbreaks. The recommended duration of treatment is 6months without tapering. Relapses are possible necessitating a second course of 3 to 6months of treatment. PMID:25753275

  7. Pathogenesis of infantile haemangioma.

    PubMed

    Greenberger, S; Bischoff, J

    2013-07-01

    Haemangioma is a vascular tumour of infancy that is well known for its rapid growth during the first weeks to months of a child's life, followed by a spontaneous but slow involution. During the proliferative phase, the vessels are disorganized and composed of immature endothelial cells. When the tumour involutes, the vessels mature and enlarge but are reduced in number. Fat, fibroblasts and connective tissue replace the vascular tissue, with few, large, feeding and draining vessels evident. Both angiogenesis and vasculogenesis have been proposed as mechanisms contributing to the neovascularization in haemangioma tumours. In recent years, several of the 'building blocks', the cells comprising the haemangioma, have been isolated. Among them are haemangioma progenitor/stem cells, endothelial cells and pericytes. This review focuses on these cell types, and the molecular pathways within these cells that have been implicated in driving the pathogenesis of infantile haemangioma. PMID:23668474

  8. Role of RANKL (TNFSF11)-Dependent Osteopetrosis in the Dental Phenotype of Msx2 Null Mutant Mice

    PubMed Central

    Castaneda, Beatriz; Simon, Yohann; Ferbus, Didier; Robert, Benoit; Chesneau, Julie; Mueller, Christopher

    2013-01-01

    The MSX2 homeoprotein is implicated in all aspects of craniofacial skeletal development. During postnatal growth, MSX2 is expressed in all cells involved in mineralized tissue formation and plays a role in their differentiation and function. Msx2 null (Msx2?/?) mice display complex craniofacial skeleton abnormalities with bone and tooth defects. A moderate form osteopetrotic phenotype is observed, along with decreased expression of RANKL (TNFSF11), the main osteoclast-differentiating factor. In order to elucidate the role of such an osteopetrosis in the Msx2?/? mouse dental phenotype, a bone resorption rescue was performed by mating Msx2?/? mice with a transgenic mouse line overexpressing Rank (Tnfrsf11a). Msx2?/? RankTg mice had significant improvement in the molar phenotype, while incisor epithelium defects were exacerbated in the enamel area, with formation of massive osteolytic tumors. Although compensation for RANKL loss of function could have potential as a therapy for osteopetrosis, but in Msx2?/? mice, this approach via RANK overexpression in monocyte-derived lineages, amplified latent epithelial tumor development in the peculiar continuously growing incisor. PMID:24278237

  9. On Resolving the Enigma of Infantile Amnesia

    Microsoft Academic Search

    Mark L. Howe; Mary L. Courage

    1993-01-01

    Historical and current theories of infantile amnesia are examined. To evaluate the viability of these theories, as well as the phenomenon of infantile amnesia itself, a review of memory development from birth through the preschool years is provided, including an overview of relevant perceptual and neurological maturation. In the context of this review, extant theories of infantile amnesia are shown

  10. Biology of Infantile Hemangioma

    PubMed Central

    Itinteang, Tinte; Withers, Aaron H. J.; Davis, Paul F.; Tan, Swee T.

    2014-01-01

    Infantile hemangioma (IH), the most common tumor of infancy, is characterized by an initial proliferation during infancy followed by spontaneous involution over the next 5–10?years, often leaving a fibro-fatty residuum. IH is traditionally considered a tumor of the microvasculature. However, recent data show the critical role of stem cells in the biology of IH with emerging evidence suggesting an embryonic developmental anomaly due to aberrant proliferation and differentiation of a hemogenic endothelium with a neural crest phenotype that possesses the capacity for endothelial, hematopoietic, mesenchymal, and neuronal differentiation. Current evidence suggests a putative placental chorionic mesenchymal core cell embolic origin of IH during the first trimester. This review outlines the emerging role of stem cells and their interplay with the cytokine niche that promotes a post-natal environment conducive for vasculogenesis involving VEGFR-2 and its ligand VEGF-A and the IGF-2 ligand in promoting cellular proliferation, and the TRAIL-OPG anti-apoptotic pathway in preventing cellular apoptosis in IH. The discovery of the role of the renin–angiotensin system in the biology of IH provides a plausible explanation for the programed biologic behavior and the ?-blocker-induced accelerated involution of this enigmatic condition. This crucially involves the vasoactive peptide, angiotensin II, that promotes cellular proliferation in IH predominantly via its action on the ATIIR2 isoform. The role of the RAS in the biology of IH is further supported by the effect of captopril, an ACE inhibitor, in inducing accelerated involution of IH. The discovery of the critical role of RAS in IH represents a novel and fascinating paradigm shift in the understanding of human development, IH, and other tumors in general. PMID:25593962

  11. Biology of infantile hemangioma.

    PubMed

    Itinteang, Tinte; Withers, Aaron H J; Davis, Paul F; Tan, Swee T

    2014-01-01

    Infantile hemangioma (IH), the most common tumor of infancy, is characterized by an initial proliferation during infancy followed by spontaneous involution over the next 5-10?years, often leaving a fibro-fatty residuum. IH is traditionally considered a tumor of the microvasculature. However, recent data show the critical role of stem cells in the biology of IH with emerging evidence suggesting an embryonic developmental anomaly due to aberrant proliferation and differentiation of a hemogenic endothelium with a neural crest phenotype that possesses the capacity for endothelial, hematopoietic, mesenchymal, and neuronal differentiation. Current evidence suggests a putative placental chorionic mesenchymal core cell embolic origin of IH during the first trimester. This review outlines the emerging role of stem cells and their interplay with the cytokine niche that promotes a post-natal environment conducive for vasculogenesis involving VEGFR-2 and its ligand VEGF-A and the IGF-2 ligand in promoting cellular proliferation, and the TRAIL-OPG anti-apoptotic pathway in preventing cellular apoptosis in IH. The discovery of the role of the renin-angiotensin system in the biology of IH provides a plausible explanation for the programed biologic behavior and the ?-blocker-induced accelerated involution of this enigmatic condition. This crucially involves the vasoactive peptide, angiotensin II, that promotes cellular proliferation in IH predominantly via its action on the ATIIR2 isoform. The role of the RAS in the biology of IH is further supported by the effect of captopril, an ACE inhibitor, in inducing accelerated involution of IH. The discovery of the critical role of RAS in IH represents a novel and fascinating paradigm shift in the understanding of human development, IH, and other tumors in general. PMID:25593962

  12. Late symptoms in infantile cystinosis

    Microsoft Academic Search

    Michel Broyer; Marie-Joseph Tete; Marie Claire Gubler

    1987-01-01

    Late symptoms of infantile cystinosis were evaluated in 19 patients aged 15–26 years who had a high graft survival following kidney transplantation. The end-stage cystinotic kidney was responsible for renal hypertension in 5 patients following grafts. Photophobia did not increase in relation to age, but 3 patients became blind and 1 lost the sight in one eye at 25 years

  13. Genetic influences and infantile autism

    Microsoft Academic Search

    Susan Folstein; Michael Rutter

    1977-01-01

    IN his original description of infantile autism, Kanner suggested an ``inborn defect'', because symptoms were often present from early infancy. Despite the rarity of a family history of autism and lack of a known increase in parental consanguinity, there are two reasons for suspecting hereditary influences: the 2% rate of autism in siblings is 50 times that of the general

  14. Social class and infantile autism

    Microsoft Academic Search

    Christopher Gillberg; Helen Schaumann

    1982-01-01

    Twenty infantile autistic children, constituting what is likely to be the majority of the total population of autistic children born in the years 1962 through 1973 and living in Göteborg, Sweden, by the end of 1978, were compared with a random population sample of 59 7-year-old Göteborg children with regard to social class. Two different social classification systems were used,

  15. [Infantile spasms and modified hypsarrhythmia].

    PubMed

    Halevy, Ayelet; Kiviti, Sara; Goldberg-Stern, Hadassa; Shuper, Avinoam

    2011-04-01

    The West syndrome was described by the physician West in his own son in 1841 and is defined as a triad of myoclonic seizures called "infantile spasms", electrographic abnormalities called "hypsarrhythmia" and arrest of psychomotor development and mental retardation. These symptoms are so pathognomonic that the impression is that the syndrome is caused by a single mechanism, but actually there is heterogeneity of etiologies, different recommendations of treatment and prognosis. The West syndrome was established as an infantiLe epileptic syndrome (ILAE Task Force, 1989). Infantile spasm is the most common epileptic syndrome during infancy and entails 50% of all epilepsies between ages one month to one year. Its incidence is 1:3200-3500 live births. Despite its absolute definition, the variability of etiologies, clinical presentation and electrographic make it difficult to set rigid, clear treatment guidelines and research methodology. This review aims to present modified hypsarrhythmia, the etiologies and prognosis of symptomatic infantile spasms, and emphasize the importance of early recognition of modified hypsarrhythmia by surveillance of electroencephalograms. PMID:22164920

  16. Malignant hypertension

    MedlinePLUS

    ... for malignant hypertension if you have had: Kidney failure Renal hypertension caused by renal artery stenosis ... An eye examination will reveal changes that indicate high blood ... failure, as well as other complications, may develop. Tests ...

  17. Malignant mesothelioma

    PubMed Central

    Moore, Alastair J; Parker, Robert J; Wiggins, John

    2008-01-01

    Malignant mesothelioma is a fatal asbestos-associated malignancy originating from the lining cells (mesothelium) of the pleural and peritoneal cavities, as well as the pericardium and the tunica vaginalis. The exact prevalence is unknown but it is estimated that mesotheliomas represent less than 1% of all cancers. Its incidence is increasing, with an expected peak in the next 10–20 years. Pleural malignant mesothelioma is the most common form of mesothelioma. Typical presenting features are those of chest pain and dyspnoea. Breathlessness due to a pleural effusion without chest pain is reported in about 30% of patients. A chest wall mass, weight loss, sweating, abdominal pain and ascites (due to peritoneal involvement) are less common presentations. Mesothelioma is directly attributable to occupational asbestos exposure with a history of exposure in over 90% of cases. There is also evidence that mesothelioma may result from both para-occupational exposure and non-occupational "environmental" exposure. Idiopathic or spontaneous mesothelioma can also occur in the absence of any exposure to asbestos, with a spontaneous rate in humans of around one per million. A combination of accurate exposure history, along with examination radiology and pathology are essential to make the diagnosis. Distinguishing malignant from benign pleural disease can be challenging. The most helpful CT findings suggesting malignant pleural disease are 1) a circumferential pleural rind, 2) nodular pleural thickening, 3) pleural thickening of > 1 cm and 4) mediastinal pleural involvement. Involvement of a multidisciplinary team is recommended to ensure prompt and appropriate management, using a framework of radiotherapy, chemotherapy, surgery and symptom palliation with end of life care. Compensation issues must also be considered. Life expectancy in malignant mesothelioma is poor, with a median survival of about one year following diagnosis. PMID:19099560

  18. Infantile colic, facts and fiction.

    PubMed

    Kheir, Abdelmoneim E M

    2012-01-01

    Infantile colic is one of the major challenges of parenthood. It is one of the common reasons parents seek medical advice during their child's first 3 months of life. It is defined as paroxysms of crying lasting more than 3 hours a day, occurring more than 3 days in any week for 3 weeks in a healthy baby aged 2 weeks to 4 months. Colic is a poorly understood phenomenon affecting up to 30% of babies, underlying organic causes of excessive crying account for less than 5%. Laboratory tests and radiological examinations are unnecessary if the infant is gaining weight normally and has a normal physical examination. Treatment is limited and drug treatment has no role in management. Probiotics are now emerging as promising agents in the treatment of infantile colic. Alternative medicine (Herbal tea, fennel, glucose and massage therapy) have not proved to be consistently helpful and some might even be dangerous. In conclusion infantile colic is a common cause of maternal distress and family disturbance, the cornerstone of management remains reassurance of parents regarding the benign and self-limiting nature of the illness. There is a critical need for more evidence based treatment protocols. PMID:22823993

  19. Hematologic malignancies

    SciTech Connect

    Hoogstraten, B.

    1986-01-01

    The principle aim of this book is to give practical guidelines to the modern treatment of the six important hematologic malignancies. Topics considered include the treatment of the chronic leukemias; acute leukemia in adults; the myeloproliferative disorders: polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis/agnogenic myeloid metaplasia; Hodgkin's Disease; non-Hodgkin's lymphoma; and Multiple Myeloma.

  20. Management of difficult infantile haemangiomas.

    PubMed

    Maguiness, Sheilagh M; Frieden, Ilona J

    2012-03-01

    Infantile haemangiomas are common vascular tumours of infancy. They typically present shortly after birth, undergo a period of rapid proliferation, and then slowly involute over many years. Although most patients require no intervention, appropriate investigation and treatment may be necessary in a minority of cases. Identifying which patients require further investigation or intervention can be difficult due to the heterogeneity of clinical presentation. This is compounded by a lack of rigorous randomised controlled trials on haemangioma management. Therefore, the rationale for treatment is not always straightforward. Haemangiomas occur anywhere on the body, have superficial, deep or mixed morphology, and depending on anatomic location, size and subtype, can be associated with underlying structural anomalies and many other potential complications. Generally, the management of difficult haemangiomas is best approached on a case-by-case basis. Over the last few years, there have been several advances in our understanding of haemangiomas, together with some exciting new therapeutic options. In the following review, the authors discuss the various possible complications of infantile haemangiomas, the rationale for treatment and appropriate possible interventions. PMID:22215816

  1. Practice Parameter: Medical Treatment of Infantile Spasms

    PubMed Central

    Mackay, M.T.; Weiss, S.K.; Adams-Webber, T.; Ashwal, S.; Stephens, D.; Ballaban-Gill, K.; Baram, T.Z.; Duchowny, M.; Hirtz, D.; Pellock, J.M.; Shields, W.D.; Shinnar, S.; Wyllie, E.; Snead, O.C.

    2010-01-01

    Objective To determine the current best practice for treatment of infantile spasms in children. Methods Database searches of MEDLINE from 1966 and EMBASE from 1980 and searches of reference lists of retrieved articles were performed. Inclusion criteria were the documented presence of infantile spasms and hypsarrhythmia. Outcome measures included complete cessation of spasms, resolution of hypsarrhythmia, relapse rate, developmental outcome, and presence or absence of epilepsy or an epileptiform EEG. One hundred fifty-nine articles were selected for detailed review. Recommendations were based on a four-tiered classification scheme. Results Adrenocorticotropic hormone (ACTH) is probably effective for the short-term treatment of infantile spasms, but there is insufficient evidence to recommend the optimum dosage and duration of treatment. There is insufficient evidence to determine whether oral corticosteroids are effective. Vigabatrin is possibly effective for the short-term treatment of infantile spasm and is possibly also effective for children with tuberous sclerosis. Concerns about retinal toxicity suggest that serial ophthalmologic screening is required in patients on vigabatrin; however, the data are insufficient to make recommendations regarding the frequency or type of screening. There is insufficient evidence to recommend any other treatment of infantile spasms. There is insufficient evidence to conclude that successful treatment of infantile spasms improves the long-term prognosis. Conclusions ACTH is probably an effective agent in the short-term treatment of infantile spasms. Vigabatrin is possibly effective. PMID:15159460

  2. [Malignant pheochromocytoma].

    PubMed

    Pailler, J L; Vicq, P; Jancovici, R; Essoussi, J; Seigneuric, A

    1989-01-01

    A case of metastatic malignant pheochromocytoma which was operated on is discussed. The benefits derived from the most recent localizing techniques such as CT scan and MIBG scintigraphic scanning are stressed. In the case presented these enabled the adrenal tumor to be detected but also demonstrated the presence of a costal metastasis and two metastases in the axial skeleton. A therapeutic trial with MIBG at doses of 100 mCi per treatment only enabled a survival of a little more than one year to be achieved. PMID:2794545

  3. Malignant hyperthermia

    PubMed Central

    2012-01-01

    Malignant hyperthermia (MH) is an uncommon, life-threatening pharmacogenetic disorder of the skeletal muscle. It presents as a hypermetabolic response in susceptible individuals to potent volatile anesthetics with/without depolarizing muscle relaxants; in rare cases, to stress from exertion or heat stress. Susceptibility to malignant hyperthermia (MHS) is inherited as an autosomally dominant trait with variable expression and incomplete penetrance. It is known that the pathophysiology of MH is related to an uncontrolled rise of myoplasmic calcium, which activates biochemical processes resulting in hypermetabolism of the skeletal muscle. In most cases, defects in the ryanodine receptor are responsible for the functional changes of calcium regulation in MH, and more than 300 mutations have been identified in the RYR1 gene, located on chromosome 19q13.1. The classic signs of MH include increase of end-tidal carbon dioxide, tachycardia, skeletal muscle rigidity, tachycardia, hyperthermia and acidosis. Up to now, muscle contracture test is regarded as the gold standard for the diagnosis of MHS though molecular genetic test is used, on a limited basis so far to diagnose MHS. The mortality of MH is dramatically decreased from 70-80% to less than 5%, due to an introduction of dantrolene sodium for treatment of MH, early detection of MH episode using capnography, and the introduction of diagnostic testing for MHS. This review summarizes the clinically essential and important knowledge of MH, and presents new developments in the field. PMID:23198031

  4. Genetics Home Reference: Infantile systemic hyalinosis

    MedlinePLUS

    ... Patients and Families Resources for Health Professionals What glossary definitions help with understanding infantile systemic hyalinosis? autosomal ; ... many other terms in the Genetics Home Reference Glossary . See also Understanding Medical Terminology . References (5 links) ...

  5. A missense mutation accelerating the gating of the lysosomal Cl?/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle

    PubMed Central

    Sartelet, Arnaud; Stauber, Tobias; Coppieters, Wouter; Ludwig, Carmen F.; Fasquelle, Corinne; Druet, Tom; Zhang, Zhiyan; Ahariz, Naima; Cambisano, Nadine; Jentsch, Thomas J.; Charlier, Carole

    2014-01-01

    Chloride-proton exchange by the lysosomal anion transporter ClC-7/Ostm1 is of pivotal importance for the physiology of lysosomes and bone resorption. Mice lacking either ClC-7 or Ostm1 develop a lysosomal storage disease and mutations in either protein have been found to underlie osteopetrosis in mice and humans. Some human disease-causing CLCN7 mutations accelerate the usually slow voltage-dependent gating of ClC-7/Ostm1. However, it has remained unclear whether the fastened kinetics is indeed causative for the disease. Here we identified and characterized a new deleterious ClC-7 mutation in Belgian Blue cattle with a severe symptomatology including perinatal lethality and in most cases gingival hamartomas. By autozygosity mapping and genome-wide sequencing we found a handful of candidate variants, including a cluster of three private SNPs causing the substitution of a conserved tyrosine in the CBS2 domain of ClC-7 by glutamine. The case for ClC-7 was strengthened by subsequent examination of affected calves that revealed severe osteopetrosis. The Y750Q mutation largely preserved the lysosomal localization and assembly of ClC-7/Ostm1, but drastically accelerated its activation by membrane depolarization. These data provide first evidence that accelerated ClC-7/Ostm1 gating per se is deleterious, highlighting a physiological importance of the slow voltage-activation of ClC-7/Ostm1 in lysosomal function and bone resorption. PMID:24159188

  6. ["Malignant" ARDS].

    PubMed

    Metzelder, S K; Reinke, C; Walthers, E M; Barth, P; Vogelmeier, C; Neubauer, A; Bals, R

    2009-10-01

    Acute respiratory failure and the "acute respiratory distress syndrome" (ARDS) are frequent medical conditions in critically ill patients. Various causes can potentially result in the development of ARDS. Two cases are presented, in which malignant diseases were identified as causes of the respiratory failure. The first patient was diagnosed with an acute myeloic leukemia M5 (FAB). In the second patient, lung histology revealed an adenocarcinoma of the lung. These case reports show that in addition to the classical causes of ARDS, specific disease entities can mimic this form of respiratory failure. Beside solid cancers and lymphomas, acute and progressive forms of inflammatory, parenchymal lung diseases (such as acute interstitial pneumonitis, acute eosinophilic pneumonia, diffuse alveolar hemorrhagia, and acute hypersensitivity pneumonitis) can manifest with this picture. As a consequence, the diagnostic workup of respiratory failure of unknown cause should include these entities. PMID:19562262

  7. Treatment Options for Malignant Mesothelioma

    MedlinePLUS

    ... Dictionary Search for Clinical Trials NCI Publications Español Malignant Mesothelioma Treatment (PDQ®) Treatment Options for Malignant Mesothelioma Localized Malignant Mesothelioma (Stage I) If malignant ...

  8. Genetic and biologic classification of infantile spasms.

    PubMed

    Paciorkowski, Alex R; Thio, Liu Lin; Dobyns, William B

    2011-12-01

    Infantile spasms constitute an age-dependent epilepsy, highly associated with cognitive impairment, autism, and movement disorders. Previous classification systems focused on a distinction between symptomatic and cryptogenic etiologies, and have not kept pace with recent discoveries of mutations in genes in key pathways of central nervous system development in patients with infantile spasms. Children with certain genetic syndromes are much likelier to manifest infantile spasms, and we review the literature to propose a genetic classification of these disorders. Children demonstrating genetic associations with infantile spasms also manifest phenotypes beyond epilepsy that may be explained by recent advances in the understanding of underlying biological mechanisms. Therefore we propose a biologic classification of genes highly associated with infantile spasms, and articulate models for infantile spasms pathogenesis based on those data. The two best described pathways of pathogenesis involve abnormalities in the gene regulatory network of gamma-aminobutyric acidergic forebrain development and abnormalities in molecules expressed at the synapse. These genetic and biologic classifications are flexible, and they should encourage much needed progress in syndrome recognition, clinical genetic testing, and the development of new therapies targeting specific pathways of pathogenesis. PMID:22114996

  9. [Malignant hyperthermia].

    PubMed

    Metterlein, T; Schuster, F; Graf, B M; Anetseder, M

    2014-12-01

    Malignant hyperthermia (MH) is a rare hereditary, mostly subclinical myopathy. Trigger substances, such as volatile anesthetic agents and the depolarizing muscle relaxant succinylcholine can induce a potentially fatal metabolic increase in predisposed patients caused by a dysregulation of the myoplasmic calcium (Ca) concentration. Mutations in the dihydropyridine ryanodine receptor complex in combination with the trigger substances are responsible for an uncontrolled release of Ca from the sarcoplasmic reticulum. This leads to activation of the contractile apparatus and a massive increase in cellular energy production. Exhaustion of the cellular energy reserves ultimately results in local muscle cell destruction and subsequent cardiovascular failure. The clinical picture of MH episodes is very variable. Early symptoms are hypoxia, hypercapnia and cardiac arrhythmia whereas the body temperature rise, after which MH is named, often occurs later. Decisive for the course of MH episodes is a timely targeted therapy. Following introduction of the hydantoin derivative dantrolene, the previously high mortality of fulminant MH episodes could be reduced to well under 10?%. An MH predisposition can be detected using the invasive in vitro contracture test (IVCT) or mutation analysis. Few elaborate diagnostic procedures are in the developmental stage. PMID:25384957

  10. Malignant hyperthermia

    PubMed Central

    Rosenberg, Henry; Davis, Mark; James, Danielle; Pollock, Neil; Stowell, Kathryn

    2007-01-01

    Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, in humans, to stresses such as vigorous exercise and heat. The incidence of MH reactions ranges from 1:5,000 to 1:50,000–100,000 anesthesias. However, the prevalence of the genetic abnormalities may be as great as one in 3,000 individuals. MH affects humans, certain pig breeds, dogs, horses, and probably other animals. The classic signs of MH include hyperthermia to marked degree, tachycardia, tachypnea, increased carbon dioxide production, increased oxygen consumption, acidosis, muscle rigidity, and rhabdomyolysis, all related to a hypermetabolic response. The syndrome is likely to be fatal if untreated. Early recognition of the signs of MH, specifically elevation of end-expired carbon dioxide, provides the clinical diagnostic clues. In humans the syndrome is inherited in autosomal dominant pattern, while in pigs in autosomal recessive. The pathophysiologic changes of MH are due to uncontrolled rise of myoplasmic calcium, which activates biochemical processes related to muscle activation. Due to ATP depletion, the muscle membrane integrity is compromised leading to hyperkalemia and rhabdomyolysis. In most cases, the syndrome is caused by a defect in the ryanodine receptor. Over 90 mutations have been identified in the RYR-1 gene located on chromosome 19q13.1, and at least 25 are causal for MH. Diagnostic testing relies on assessing the in vitro contracture response of biopsied muscle to halothane, caffeine, and other drugs. Elucidation of the genetic changes has led to the introduction, on a limited basis so far, of genetic testing for susceptibility to MH. As the sensitivity of genetic testing increases, molecular genetics will be used for identifying those at risk with greater frequency. Dantrolene sodium is a specific antagonist of the pathophysiologic changes of MH and should be available wherever general anesthesia is administered. Thanks to the dramatic progress in understanding the clinical manifestation and pathophysiology of the syndrome, the mortality from MH has dropped from over 80% thirty years ago to less than 5%. PMID:17456235

  11. A RANKL G278R mutation causing osteopetrosis identifies a functional amino acid essential for trimer assembly in RANKL and TNF.

    PubMed

    Douni, Eleni; Rinotas, Vagelis; Makrinou, Eleni; Zwerina, Jochen; Penninger, Josef M; Eliopoulos, Elias; Schett, Georg; Kollias, George

    2012-02-15

    Receptor activator of nuclear factor-?B ligand (RANKL), a trimeric tumor necrosis factor (TNF) superfamily member, is the central mediator of osteoclast formation and bone resorption. Functional mutations in RANKL lead to human autosomal recessive osteopetrosis (ARO), whereas RANKL overexpression has been implicated in the pathogenesis of bone degenerative diseases such as osteoporosis. Following a forward genetics approach using N-ethyl-N-nitrosourea (ENU)-mediated random mutagenesis, we generated a novel mouse model of ARO caused by a new loss-of-function allele of Rankl with a glycine-to-arginine mutation at codon 278 (G278R) at the extracellular inner hydrophobic F ?-strand of RANKL. Mutant mice develop severe osteopetrosis similar to Rankl-deficient mice, whereas exogenous administration of recombinant RANKL restores osteoclast formation in vivo. We show that RANKL(G278R) monomers fail to assemble into homotrimers, are unable to bind and activate the RANK receptor and interact with wild-type RANKL exerting a dominant-negative effect on its trimerization and function in vitro. Since G278 is highly conserved within the TNF superfamily, we identified that a similar substitution in TNF, G122R, also abrogated trimerization, binding to TNF receptor and consequently impaired TNF biological activity. Notably, SPD304, a potent small-molecule inhibitor of TNF trimerization that interacts with G122, also inhibited RANKL activity, suggesting analogous inhibitory mechanisms. Our results provide a new disease model for ARO and identify a functional amino acid in the TNF-like core domain essential for trimer formation both in RANKL and in TNF that could be considered a novel potential target for inhibiting their biological activities. PMID:22068587

  12. Hypsarrhythmia and infantile autism: A clinical report

    Microsoft Academic Search

    Lawrence T. Taft; Herbert J. Cohen

    1971-01-01

    The case histories of five children, four boys and one girl (1 to 9 years of age), who developed autistic behavior after the onset of infantile spasms, are presented in detail. The patients' initial EEGs disclosed hypsarrhythmia. First onsets of seizures occurred during the second 6 months of life in four and on the third day of life in the

  13. Early infantile autism and autistic psychopathy

    Microsoft Academic Search

    D. Arn Van Krevelen

    1971-01-01

    Early infantile autism and autistic psychopathy were first reported within the span of 1 year (1943–1944). While the former (Kanner's syndrome) has become the widely known focus of intensive investigation, the latter (Asperger's syndrome) did not receive the attention it deserves. Often the two conditions mistakenly have been thought to be identical. This paper tries (a) to assign to autistic

  14. Changing trends in characteristics of infantile hydronephrosis

    PubMed Central

    Nickavar, Azar; Nasiri, Seyyed Javad; Lahouti Harahdashti, Arash

    2014-01-01

    Background: Hydronephrosis (HN) or calycial dilatation is the most common prenatal urologic abnormality. The aim of this study was to identify the possible changes in demographic and clinical manifestations of infantile HN in previously and recently diagnosed patients. Methods: 193 children with infantile HN admitted to Ali-asghar Children's Hospital in two different periods (group 1; 1997-2003, and group 2; 2005-2011) were evaluated in this cross-sectional study. Variables such as time at diagnosis, gender, clinical manifestations, etiology, laterality, grade, and associated anomalies were also evaluated. Results: The mean age at diagnosis was 32.3± 42.6 (group 1) and 21.4± 36.4 (group 2), respectively. 69.8% of patients were males. 75% of prenatally diagnosed patients were asymptomatic. Urinary tract infection was the most common symptom, followed by pain, hematuria, and decreased renal function. Obstruction in ureteropelvic junction was the most common etiology, accounting for 39.6% of all patients. Neurogenic bladder, vesicoureteral reflux, nephrolithiasis, and ureterovesical junction obstruction were the other common etiologies. 55.5% of all patients had unilateral HN, which was more common on the left side. No significant difference documented between two groups of patients, except for mild HN (23.7% vs. 39%), which was more common in newly diagnosed patients (p= 0.001). Conclusion: There was no changing trend in demographic and clinical manifestations of infantile HN. However, the severity of infantile HN has been decreased significantly in recently diagnosed patients. PMID:25250281

  15. Infantile hepatic hemangioendothelioma: The role of surgery

    Microsoft Academic Search

    Madan Samuel; Lewis Spitz

    1995-01-01

    Of 16 infants with infantile hepatic hemangioendothelioma, 14 (88%) presented before age 3 months. For seven cases (44%), the diagnosis was suspected from antenatal ultrasonographic findings. Two (13%) presented with asymptomatic hepatomegaly. The most common presenting features were high-output cardiac failure in 11 (69%), consumptive coagulopathy in 12 (75%), and anemia in 12 (75%). Sixty-three percent of the children had

  16. Residuos de plaguicidas organoclorados en fórmulas infantiles

    Microsoft Academic Search

    Pedro Izquierdo; María Allara; Gabriel Torres; Aiza García; María Piñero; Unidad de Investigación Ciencia

    2006-01-01

    RESUMEN El consumo de grasas de origen animal y vegetal es una fuente de exposici ón del hombre a los plaguicidas organoclorados (POC). Las fórmulas infantiles son elaboradas a partir de leche en polvo, aceites vegetales, o mezclas de éstos, por lo que los POC podrían estar presentes en este alimento. Este trabajo tuvo como objetivo determinar POC en fórmulas

  17. Infantile Subdural Hematomas due to Traffic Accidents

    Microsoft Academic Search

    Matthieu Vinchon; Odile Noizet; Sabine Defoort-Dhellemmes; Gustavo Soto-Ares; Patrick Dhellemmes

    2002-01-01

    The most common cause of subdural hematomas (SDH) in infants is shaken-baby syndrome (SBS). The pathogenesis and natural history of infantile SDH (ISDH) are poorly documented, because in SBS, the date of shaking is usually imprecise and the assault is often repeated. Victims of traffic accidents (TA) form a study group close to experimental conditions, because the trauma is unique,

  18. Cytogenetic characterization of congenital or infantile fibrosarcoma

    Microsoft Academic Search

    P. Dal Cin; P. Brock; M. Casteels-Van Daele; I. De Wever; B. Van Damme; H. Van den Berghe

    1991-01-01

    Chromosome analysis of a congenital or infantile fibrosarcoma from the lower left leg of a 3-week-old baby girl showed only numerical changes involving chromosomes 11, 17 and 20. As three more cases with similar combinations of trisomies of the same chromosomes have been described, this report confirms that adult and congenital fibrosarcoma are cytogenetically different and trisomy 11 may be

  19. Congenital hemangiomas and infantile hemangioma: missing links

    Microsoft Academic Search

    John B Mulliken; Odile Enjolras

    2004-01-01

    Rapid postnatal growth and slow involution in childhood characterize the common infantile hemangioma. There are other rare vascular tumors that present fully grown at birth and behave quite differently, as designated by the acronyms: rapidly involuting congenital hemangioma (RICH) and noninvoluting congenital hemangioma (NICH). RICH and NICH have similarities in appearance, location, size, equal sex ratio, and both have overlapping

  20. Malignant teratoma (image)

    MedlinePLUS

    A malignant teratoma is a type of cancer consisting of cysts that contain one or more of the three ... embryonic germ layers: ectoderm, mesoderm, and endoderm. Because malignant teratomas have usually spread by the time of ...

  1. Consumptive hypothyroidism associated with parotid infantile hemangioma.

    PubMed

    De Corti, Federica; Crivellaro, Carlo; Zanon, Giovanni Franco; Luzzatto, Claudia

    2015-03-01

    Consumptive hypothyroidism is a rare condition usually described in association with diffuse infantile hemangioma of the liver, over-expressing type 3 iodothyronine-deiodinase. We report a case of acquired hypothyroidism associated with a parotid hemangioma in a male child, who was initially evaluated at 48 days of age due to persistent jaundice. Replacement hormonal therapy was promptly started, but resolution of the clinical and laboratory findings of hypothyroidism was only achieved at 3 months of age, when propranolol treatment was added to the therapeutic regimen. Our review of the literature retrieved only one case of proven consumptive hypothyroidism associated with a parotid infantile hemangioma, making a real incidence an underestimate: we believe one should consider this association a real possibility. PMID:25153570

  2. Idiopathic infantile hypercalcaemia--a continuing enigma.

    PubMed Central

    Martin, N D; Snodgrass, G J; Cohen, R D

    1984-01-01

    Seventy six children with documented Fanconi-type idiopathic infantile hypercalcaemia were studied and compared with 41 with the Williams-Beuren syndrome. Clinical comparison showed, as expected, very close similarities but also considerable differences, particularly in the severity of feeding problems and the degree of failure to thrive. The estimated incidence of idiopathic infantile hypercalcaemia alone has remained constant for the past 20 years, at approximately 18 cases per year in the United Kingdom (1 per 47 000 total live births). Long term morbidity in these children is mainly due to mental handicap and arteriopathy, but hypertension (29%), kyphoscoliosis (19%), hyperacusis (75%), and obesity (50%) may be added complications. In one child, hypercalcaemia recurred during adolescence but this seems to be excessively rare. More detailed investigation before treatment is required to discover the aetiology of hypercalcaemia in this condition. Images Fig. 2 PMID:6465928

  3. Infantile methemoglobinemia: reexamining the role of drinking water nitrates.

    PubMed Central

    Avery, A A

    1999-01-01

    Ingestion of nitrates in drinking water has long been thought to be a primary cause of acquired infantile methemoglobinemia, often called blue baby syndrome. However, recent research and a review of historical cases offer a more complex picture of the causes of infantile methemoglobinemia. Gastrointestinal infection and inflammation and the ensuing overproduction of nitric oxide may be the cause of many cases of infantile methemoglobinemia previously attributed to drinking water nitrates. If so, current limits on allowable levels of nitrates in drinking water, which are based solely on the health threat of infantile methemoglobinemia, may be unnecessarily strict. Images Figure 1 Figure 2 PMID:10379005

  4. Infantile and acquired nystagmus in childhood.

    PubMed

    Ehrt, Oliver

    2012-11-01

    Nystagmus is an involuntary, periodic eye movement caused by a slow drift of fixation which is followed by a fast refixation saccade (jerk nystagmus) or a slow movement back to fixation (pendular nystagmus). In childhood most cases are benign forms of nystagmus: idiopathic infantile, ocular or latent nystagmus. They arise at the age of 3 months, without oscillopsia and show the absence of the physiologic opto-kinetic nystagmus. A full ophthalmologic evaluation is all that is needed in most cases: albinism, macular or optic nerve hypoplasia and congenital retinal dystrophies are the most common forms of ocular nystagmus. Idiopathic infantile nystagmus can be hereditary, the most common and best analyzed form being a mutation of the FRMD7 gene on chromosome Xq26.2. The mutation shows a mild genotype-phenotype correlation. In all female carriers the opto-kinetic nystagmus is absent and half had mild nystagmus. Latent nystagmus is part of the infantile esotropia syndrome and shows the unique feature of change of direction when the fixing eye changes: it is always beating to the side of the fixing eye. There is no cure for infantile nystagmus but therapeutic options include magnifying visual aids or eye muscle surgery at the age of 6-8 y in patients with head turn. Less than 20% of childhood nystagmus are acquired and need further neurological and imaging work-up. Alarming signs and symptoms are: onset after the age of 4 months, oscillopsia, dissociated (asymmetric) nystagmus, preserved opto-kinetic nystagmus, afferent pupillary defect, papilloedema and neurological symptoms like vertigo and nausea. The most common cause is due to pathology of the anterior optic pathway (e.g. optic nerve gliomas). It shows the same clinical feature of dissociated nystagmus as spasmus nutans but has a higher frequency as in INO. Other forms of acquired nystagmus are due to brainstem, cerebellar or metabolic diseases. PMID:22459007

  5. Sonographic management of infantile clavicular fractures

    Microsoft Academic Search

    E. Blab; W. Geißler; A. Rokitansky

    1999-01-01

    A new method for radiation-free management of infantile clavicular fractures is presented. Forty-nine infants with clavicular\\u000a fractures were examined radiologically and sonographically by independent examiners. The two imaging techniques were compared\\u000a with regard to practicability, diagnostic results, and assessment of the healing process. The paired t-test showed no significant difference between X-ray and ultrasound (US) for the criteria of practicability

  6. Potential biochemical markers for infantile autism

    Microsoft Academic Search

    Porn P. Israngkun; Howard A. I. Newman; Suman T. Patel; Valentine A. Duruibe; Hussein Abou-Issa

    1986-01-01

    Biochemical markers are crucial to the development of early diagnosis of infantile autism. The blood concentrations of neuroanalytes\\u000a epinephrine, norepinephrine, dopamine, and serotonin were elevated in autistic subjects (n = 13) as compared to normal controls (n = 10). Autistic subjects had peptide patterns (peaks I-V, Sephadex G-25) that were different from those of normal controls.\\u000a Methionine-enkephalin has been tentatively

  7. Infantile Spasms: Little Seizures, BIG Consequences

    PubMed Central

    Shields, W Donald

    2006-01-01

    Infantile spasms is one of the “catastrophic childhood epilepsies” because of the difficulty in controlling seizures and the association with mental retardation. However, early recognition, a careful diagnostic evaluation, and proper treatment may allow some children to attain seizure control and to achieve a normal, or at least much improved, level of development. Thus, there is the opportunity to have an important impact in the lives of these unfortunate children and their families. PMID:16761063

  8. Infantile Tremor Syndrome, Down but not Out.

    PubMed

    Goraya, Jatinder S; Kaur, Sukhjot

    2015-03-01

    Retrospective chart review of 21 infants with infantile tremor syndrome for vitamin B12 deficiency showed low serum vitamin B12 levels in 8/16 (50%). Of the eight infants with normal levels, six had received vitamin B12 before referral. Macrocytosis and low maternal serum B12 was found in 12 and seven cases each. Treatment with vitamin B12 alone produced rapid recovery. PMID:25849009

  9. Longitudinal polysomnographic findings in infantile Pompe disease.

    PubMed

    Kansagra, Sujay; Austin, Stephanie; DeArmey, Stephanie; Kazi, Zoheb; Kravitz, Richard M; Kishnani, Priya S

    2015-04-01

    Infantile Pompe disease is a rare, metabolic disorder due to deficiency of the enzyme acid ?-glucosidase that degrades lysosomal glycogen. The deficiency leads to multisystem dysfunction. Neuromuscular weakness due to metabolic myopathy is present, which predisposes children to sleep-disordered breathing. With the advent of enzyme replacement therapy (ERT), children are living longer, and there is a new natural history that is emerging. In a prior paper on our cohort of infantile Pompe disease patients, we reported a high incidence of both hypoventilation and obstructive sleep apnea (OSA). In this retrospective study, we analyzed longitudinal nocturnal polysomnography results from 10 patients with infantile-onset Pompe disease, all of which were on enzyme replacement therapy for a mean of 34.9 months at the time of follow-up study. Patients demonstrated relative stability in sleep disordered breathing, with a trend towards improvement in both OSA and central sleep apnea. ERT may help in the treatment of sleep apnea in this cohort. © 2015 Wiley Periodicals, Inc. PMID:25706820

  10. Treatment of infantile spasms: an evidence-based approach.

    PubMed

    Mackay, Mark; Weiss, Shelly; Snead, O Carter

    2002-01-01

    The object of this work was to subject established empirical medical treatment regimens for infantile spasms to evidence-based medicine analysis in order to determine the current best practice for the treatment of infantile spasms in children. Clinical studies of infantile spasms reported during the presteroid era were reviewed critically to define the natural history of the disorder. Treatment trials of infantile spasms conducted since 1958 were rigorously assessed using MEDLINE and hand searches of the English language literature. Inclusion criteria were the documented presence of infantile spasms and hypsarrhythmia. Outcome measures included complete cessation of spasms, resolution of hypsarrhythmia, relapse rate, developmental outcome, the presence or absence of epilepsy, and/or an epileptiform electroencephalogram. Evidence was defined as class I, II, or III, and practice parameter recommendations were made using the framework devised by the American Academy of Neurology. Class I and III evidence support a standard of practice recommendation for the use of vigabatrin in the treatment of infantile spasms in children with tuberous sclerosis. Class I and III evidence support a guidelines recommendation for the use of either ACTH or vigabatrin in infantile spasms in nontuberous sclerosis patients. There is no strong evidence that successful treatment of infantile spasms improves the long-term prognosis for cognitive outcome or decreases the incidence of later epilepsy. A practice option recommendation for the use of oral corticosteroids in the treatment of infantile spasms is supported by limited and inconclusive class I and III data. Based on the evidence, no recommendation can be made for the use of pyridoxine, benzodiazepines, or the newer antiepileptic drugs in the treatment of infantile spasms. ACTH and vigabatrin are the most effective agents in the treatment of infantile spasms, but concerns remain about the risk/benefit profiles of these drugs. PMID:12040891

  11. Rheumatic Diseases and Malignancies

    PubMed Central

    BOJINCA, Violeta; JANTA, Iustina

    2012-01-01

    ABSTRACT There are many studies which demonstrate a higher risk for malignancy in patients with rheumatic diseases. There have been a number of possible explanations for the differences in the risk of certain malignancies in patients with rheumatic disease, compared with general population, but a clear mechanism is difficult to identify. Rheumatoid syndromes may be associated with malignancy as paraneoplastic conditions, which can antedate the neoplasm diagnosis. On the other hand, autoimmune rheumatic diseases have a higher risk of malignancy by themselves or because of the immunosuppressant treatments. PMID:23482881

  12. Cytoplasmic mediation of malignancy.

    PubMed

    Israel, B A; Schaeffer, W I

    1988-05-01

    The relative roles of nucleus and cytoplasm in the induction and maintenance of the malignant state were studied. Cytoplasmic hybrid (cybrid) clones, derived from the fusion of cytoplasts from malignantly transformed cells to normal whole cells, produced tumors in 17% of the animals injected with them. Nuclear/cytoplasmic hybrid (reconstituted cell) clones, derived by fusion of cytoplasts from malignant cells with karyoplasts of normal cells, produced tumors in 97% of the animals injected. A unique aspect of this study is the fact that all of the cells utilized, both normal and malignantly transformed, were derived from an original cloned cell. PMID:3372452

  13. Infantile Methemoglobinemia: Reexamining the Role of Drinking Water Nitrates

    Microsoft Academic Search

    Alexander Austin Avery

    Ingestion of nitrates in drinking water has long been thought to be a primary cause of acquired infantile methemoglobinemia, often called blue baby syndrome. However, recent research and a review of historical cases offer a more complex picture of the causes of infantile methemoglobinemia. Gastrointestinal infection and inflammation and the ensuing overproduction of nitric oxide may be the cause of

  14. Physiological Regulation and Infantile Anorexia: A Pilot Study

    ERIC Educational Resources Information Center

    Chatoor, Irene; Ganiban, Jody; Surles, Jaclyn; Doussard-Roosevelt, Jane

    2004-01-01

    Objective: To examine whether infantile anorexia is associated with physiological dysregulation. Method: This study included eight toddlers with infantile anorexia and eight healthy eaters matched for age, race, socioeconomic status, and gender. Physiological measures of heart period and respiratory sinus arrhythmia were assessed across three…

  15. Part Two: Infantile Spasms--The New Consensus

    ERIC Educational Resources Information Center

    Pellock, John M.; O'Hara, Kathryn

    2011-01-01

    This article presents the conclusion made by the consensus group regarding infantile spasms. The consensus group concluded that "infantile spasms are a major form of severe epileptic encephalopathy of early childhood that results in neurodevelopmental regression and imposes a significant health burden." The entire group agrees that the best…

  16. Dipartimento di Pediatria e Neuropsichiatria Infantile Sapienza Universit di Roma

    E-print Network

    Guidoni, Leonardo

    Dipartimento di Pediatria e Neuropsichiatria Infantile Sapienza Università di Roma Viale Regina Elena 324 00161 ROMA CF 80209930587 PI 02133771002 Prot. n° P-370/13 del 04.09.2013 SAPIENZA UNIVERSIT� DI ROMA DIPARTIMENTO DI PEDIATRIA E NEUROPSICHIATRIA INFANTILE IL DIRETTORE VISTA PROPOSTA APPROVATA

  17. Dipartimento di Pediatria e Neuropsichiatria Infantile Sapienza Universit di Roma

    E-print Network

    Guidoni, Leonardo

    Dipartimento di Pediatria e Neuropsichiatria Infantile Sapienza Università di Roma Viale Regina Elena 324 00161 ROMA CF 80209930587 PI 02133771002 Prot. P.424/14 23.09.2014 SAPIENZA UNIVERSIT� DI ROMA Neuropsichiatria Infantile Sapienza Università Di Roma - dal titolo: European Multicentre TICS in Children Studies

  18. El Desenvolupament de la psicopatologia infantil al segle XIX

    Microsoft Academic Search

    Edelmira Domènech

    1990-01-01

    Este trabajo estudia el desarrollo de la psicopatología infantil a lo largo del siglo XIX; distingue tres etapas: 1. Contribución de los psiquiatras franceses en el campo del retraso mental (Falret, Voisin, Ferrus) y de la pedagogía del deficiente (Delasiauve, Vallée, Seguin, Bourneville ). 2. Diferenciación progresiva del contenido cientrpco y aparición de capítulos de psicopatología infantil en las obras

  19. [Infantile hemangiomas: the revolution of beta-blockers].

    PubMed

    Leaute-Labreze, Christine

    2014-12-01

    Infantile hemangioma is the consequence of both postnatal vasculogenesis and angiogenesis. Hypoxia appears to play an important role as a contributory factor. Infantile hemangiomas have variable clinical features: superficial, deep or mixed. They can be localized or segmental involving a large skin area. Localized infantile hemangiomas are usually benign, unless they are located near a noble structure (airway orbit...), while segmental infantile hemangioma may be associated with complex underlying birth defects (PHACES and SACRAL syndromes). Clinical follow-up of infants with infantile hemangioma must be particularly careful in the first weeks of life since 80% of all infantile hemangiomas have reached their final size at age 5 months. A majority of infantile hemangiomas are mild and do not required any treatment. Main indications for treatment are: vital risk (heart failure, respiratory distress), functional risk (amblyopia, swallowing disorders...), painful ulceration and disfigurement (face involvement of nose, lips...). Propranolol, has been quickly adopted as the first line medical treatment for complicated infantile hemangioma; and it is the only treatment to have a marketing authorization in this indication. It is recommended to begin the treatment as early as possible before three months of age to minimize the risk of complications and sequelae. PMID:25665327

  20. Propranolol treatment of infantile hemangioma endothelial cells: A molecular analysis

    PubMed Central

    STILES, JESSICA; AMAYA, CLARISSA; PHAM, ROBERT; ROWNTREE, REBECCA K.; LACAZE, MARY; MULNE, ARLYNN; BISCHOFF, JOYCE; KOKTA, VICTOR; BOUCHERON, LAURA E.; MITCHELL, DIANNE C.; BRYAN, BRAD A.

    2012-01-01

    Infantile hemangiomas (IHs) are non-malignant, largely cutaneous vascular tumors affecting approximately 5–10% of children to varying degrees. During the first year of life, these tumors are strongly proliferative, reaching an average size ranging from 2 to 20 cm. These lesions subsequently stabilize, undergo a spontaneous slow involution and are fully regressed by 5 to 10 years of age. Systemic treatment of infants with the non-selective ?-adrenergic receptor blocker, propranolol, has demonstrated remarkable efficacy in reducing the size and appearance of IHs. However, the mechanism by which this occurs is largely unknown. In this study, we sought to understand the molecular mechanisms underlying the effectiveness of ? blocker treatment in IHs. Our data reveal that propranolol treatment of IH endothelial cells, as well as a panel of normal primary endothelial cells, blocks endothelial cell proliferation, migration, and formation of the actin cytoskeleton coincident with alterations in vascular endothelial growth factor receptor-2 (VEGFR-2), p38 and cofilin signaling. Moreover, propranolol induces major alterations in the protein levels of key cyclins and cyclin-dependent kinase inhibitors, and modulates global gene expression patterns with a particular affect on genes involved in lipid/sterol metabolism, cell cycle regulation, angiogenesis and ubiquitination. Interestingly, the effects of propranolol were endothelial cell-type independent, affecting the properties of IH endothelial cells at similar levels to that observed in neonatal dermal microvascular and coronary artery endothelial cells. This data suggests that while propranolol markedly inhibits hemangioma and normal endothelial cell function, its lack of endothelial cell specificity hints that the efficacy of this drug in the treatment of IHs may be more complex than simply blockage of endothelial function as previously believed. PMID:23170111

  1. Looking for new treatments of Infantile Colic

    PubMed Central

    2014-01-01

    Infantile colic is a common disturbance occurring in the first three months of life. It is a benign condition and one of the main causes of pediatric consultation in the early part of life because of its great impact on family life. Some pediatricians are prone to undervalue this issue mainly because of the lack of evidence based medicine guidelines. Up to now, there is no consensus concerning management and treatment. Literature reports growing evidence about the effectiveness of dietary, pharmacological, complementary and behavioral therapies as options for the management of infantile colic. Dietary approach, usually based on the avoidance of cow’s milk proteins in breast-feeding mothers and bottle-fed infants, more recently has seen the rise of new special formulas, such as partially hydrolyzed proteins and low lactose added with prebiotics or probiotics: their efficacy needs to be further documented. Investigated pharmacological agents are Simethicone and Cimetropium Bromide: the first is able to reduce bloating while the second could reduce fussing crying, but it has been tested only for severe infantile colic. No other pain relieving agents have been proposed until now, but some clinical trials are ongoing for new drugs. There is limited evidence supporting the use of complementary and alternative treatments (herbal supplements, manipulative approach and acupuncture) or behavioral interventions. Recent studies have focused the role of microbiota in the pathogenesis of this disturb and so new treatments, such as probiotics, have been proposed, but only few strains have been tested. Further investigations are needed in order to provide evidence-based guidelines. PMID:24898541

  2. Clinical profile and treatment of infantile spasms using vigabatrin and ACTH - a developing country perspective

    Microsoft Academic Search

    Shahnaz Ibrahim; Shamshad Gulab; Sidra Ishaque; Taimur Saleem

    2010-01-01

    BACKGROUND: Infantile spasms represent a serious epileptic syndrome that occurs in the early infantile age. ACTH and Vigabatrin are actively investigated drugs in its treatment. This study describes the comparison of their efficacy in a large series of patients with infantile spasms from Pakistan. METHODS: All patients with infantile spasms who presented to Aga Khan University Hospital, Karachi, Pakistan from

  3. General Information about Malignant Mesothelioma

    MedlinePLUS

    ... form in the lining of the chest or abdomen. Malignant mesothelioma is a disease in which malignant ( ... that examine the inside of the chest and abdomen are used to detect (find) and diagnose malignant ...

  4. Vascular tumours in infants. Part I: benign vascular tumours other than infantile haemangioma.

    PubMed

    Hoeger, P H; Colmenero, I

    2014-09-01

    Vascular anomalies can be subdivided into vascular tumours and vascular malformations (VMs). While most VMs are present at birth and do not exhibit significant postnatal growth, vascular tumours are characterized by their dynamics of growth and (sometimes) spontaneous regression. This review focuses on benign vascular tumours other than infantile haemangiomas (IHs), namely pyogenic granuloma, eruptive pseudoangiomatosis, glomangioma, rapidly involuting and noninvoluting congenital haemangioma, verrucous haemangioma and spindle cell haemangioma. While some of them bear clinical resemblance to IH, they can be separated by age of appearance, growth characteristics and/or negative staining for glucose transporter 1. Separation of these tumours from IH is necessary because their outcome and therapeutic options are different. Semimalignant and malignant vascular tumours will be addressed in a separate review. PMID:24117053

  5. Treatment Option Overview (Malignant Mesothelioma)

    MedlinePLUS

    ... are different types of treatment for patients with malignant mesothelioma. Different types of treatments are available for patients with malignant mesothelioma . Some treatments are standard (the currently used ...

  6. Oral propranolol for parotid infantile hemangiomas.

    PubMed

    Li, Gang; Xu, Da-Peng; Sun, Hua-Liang; Cheng, Chen; Liu, Zi-Mei; Xi, Shan-Long; Wang, Xu-Kai

    2015-03-01

    The aim of our study was to assess the efficacy and safety of oral propranolol for the treatment of parotid infantile hemangiomas. Between October 2009 and January 2013, propranolol was given orally to 30 infants with proliferating hemangiomas at a dose of 1.0 to 1.5 mg/kg per day in our department. The patients included 12 male infants and 18 female infants, aged between 2 and 13 months, with a median of 5.9 months. The lesions were located in the parotid region and measured from 1.5 cm × 2 cm × 0.5 cm to 6 cm × 8 cm × 3 cm in volume. Oral propranolol was administered once daily for a mean duration of 22.7 weeks (range, 14-32 wk). Follow-up times were from 1 to 10 months (median, 6.4 mo). Changes in the color and size of the tumor were recorded using hemisphere measurements and digital photographs. The treatment results were scored according to a 4-point scale. Overall response was graded scale 4 (excellent) in 18 patients, scale 3 (good) in 11 patients, scale 2 (moderate) in 1 patient, and scale 1 (poor) in none. No major collateral effects and rebounds were observed in any of the patients. Oral propranolol was a well-tolerated and effective treatment with mild adverse effects for parotid infantile hemangiomas. PMID:25692890

  7. Thoracic Malignancy Steering Committee

    Cancer.gov

    The Thoracic Malignancy Steering Committee evaluates and prioritizes concepts for phase 3 and large phase 2 therapeutic clinical trials to be conducted in the NCI National Clinical Trials Network (NCTN).

  8. Brain Malignancies Steering Committee

    Cancer.gov

    The Brain Malignancy Steering Committee evaluates and prioritizes concepts for phase 3 and large phase 2 therapeutic clinical trials to be conducted in the NCI National Clinical Trials Network (NCTN).

  9. [Malignant pheochromocytoma. A case].

    PubMed

    Ducornet, B; Bacourt, F; Gensous, D; Jacquillat, C; Duprey, J; Tcherdakoff, P

    1985-01-26

    A case of malignant phaeochromocytoma is reported. The primary tumour was removed in 1970. Metastases were diagnosed in 1979 and management of the condition included antihypertensive treatment with alphamethylparatyrosine, antitumoral chemotherapy and surgical reduction of secreting tissue. In these rare tumours malignancy can only be confirmed by metastases, i.e. presence of chromaffin cells in loci where they are not usually found. Histology is of little value. High levels of catecholamine precursors or their metabolites in the urine may be a sign of malignancy, but some asymptomatic tumours are only revealed by metastases. Computerized tomography and radioisotope scanning with I131 metaiodobenzylguanidine are the best available methods to locate the lesions. In view of the small number of cases and of the unpredictable course (sometimes spread over many years) of malignant phaeochromocytomas, the effectiveness of treatments with alphamethylparatyrosine, chemotherapy and radiotherapy is difficult to evaluate. PMID:3156338

  10. Gynecologic malignancy in pregnancy

    PubMed Central

    Ji, Yong Il

    2013-01-01

    Gynecologic malignancy during pregnancy is a stressful problem. For the diagnosis and treatment of malignancy during pregnancy, a multidisciplinary approach is needed. Patients should be advised about the benefits and risk of treatment. When selecting a treatment for malignancy during pregnancy, the physiologic changes that occur with the pregnancy should be considered. Various diagnostic procedures that do not harm the fetus can be used. Laparoscopic surgery or laparotomy may be safely performed. The staging approach and treatment should be standard. Systemic chemotherapy during the first trimester should be delayed if possible. Radiation therapy should preferably start postpartum. Although delivery should be delayed preferably until after 35 weeks of gestation, termination of pregnancy may be considered when immediate treatment is required. Subsequent pregnancies do not increase the risk of malignancy recurrence. PMID:24328018

  11. Thoracic Malignancy Steering Committee

    Cancer.gov

    The TMSC functions to harmonize an efficient, cost-effective, science-driven, and transparent process that will identify and promote the "Best Science" in clinical research of lung and other thoracic malignancies by addressing the design and prioritization of phase III trials and large phase II studies in chest malignancies. In addition to focusing on lung cancer, the TMSC addresses oncology trials in other thoracic sites, such as mesothelioma. Esophageal cancer trials are reviewed by the Gastrointestinal Cancer Steering Committee.

  12. Aggressive malignant phyllodes tumor

    PubMed Central

    Roberts, Nathan; Runk, Dianne M.

    2015-01-01

    Introduction Originally described in 1838 by Muller, phyllodes tumor is a rare fibroepithelial neoplasm which represents roughly 0.3–0.9% of all breast cancers. Phyllodes tumor are divided into benign, borderline and malignant histologic categories. Malignant phyllodes tumor represent anywhere from 10–30% of all phyllodes tumors. This group has both the potential to recur locally and metastasize, however not all malignant phyllodes behave this way. The challenge lays in predicting which tumor will recur locally or metastasize. Distinguishing this subset of malignant phyllodes tumor is paramount. Presentation of case We present a case of malignant phyllodes which presented with metastatic disease. What is fascinating about this case is not only the initial presentation but also the aggressiveness of this variation of phyllodes tumor. The patient initially presented with a large mass which encompassed her whole right breast. On surgical pathology the mass measured roughly 31 cm in diameter and weighed over 10 kg. Within 5 weeks from surgery the patient had suffered brain metastases and also 6 local recurrent tumors. The patient passed roughly 11 weeks after her first visit to our office. Conclusion Despite biopsy proven malignant phyllodes tumor, it was near impossible to predict such a rapid course of disease progression in our patient. Our case illustrates the unpredictable nature of this disease in general and it possibly sheds light on a variant of the disease which had undergone an aggressive transformation. PMID:25697402

  13. [Malignant nail tumors].

    PubMed

    Haneke, E

    2014-04-01

    Because of the large number of different tissues making up the distal phalanx of fingers and toes, a large variety of malignant tumors can be found in and around the nail apparatus. Bowen disease is probably the most frequent nail malignancy. It is usually seen as a verrucous plaque of the nail fold and nail bed in persons above the age of 40 years. It slowly grows over a period of years or even decades before degenerating to an invasive squamous cell carcinoma. The latter may also occur primarily often as a weeping onycholysis. The next most frequent nail malignancy is ungual melanoma. Those arising from the matrix are usually pigmented and often start with a longitudinal melanonychia whereas those originating from the nail bed remain amelanotic, are often nodular and mistaken for an ingrown nail in an elderly person. The treatment of choice for in situ and early invasive subungual melanomas is generous extirpation of the nail apparatus whereas distal amputation is only indicated for advanced melanomas. In addition to these frequent nail malignancies, nail-specific carcinomas, malignant vascular and osseous tumors, other sarcomas, nail involvement in malignant systemic disorders and metastases may occur. In most cases, they cannot be diagnosed accurately on clinical grounds. Therefore, a high degree of suspicion is necessary in all isolated or single-digit proliferations that do not respond to conservative treatment. PMID:24718507

  14. Infantile Hemangioma in a V2 Distribution: Treatment with Nadolol

    PubMed Central

    Giberson, Mariah; Hayes, Robert

    2015-01-01

    Infantile hemangiomas are common benign tumours of infancy affecting up to 10% of children. They are typically not present at birth but undergo a rapid proliferation stage and then plateau in growth before resolving spontaneously. Recently, beta-blockers have been favoured over systemic corticosteroids for treatment of disfiguring or life-threatening infantile hemangiomas. We present a case of an 11-week-old female with a 7 week history of an evolving hemangioma along a facial V2 distribution. Physical exam revealed a well-defined bright red plaque over the right zygoma and lower eyelid. MRI, echocardiograph, and liver ultrasound were normal. Patient was treated with nadolol and had a rapid and substantial regression of the hemangioma. Nadolol is an effective treatment option for disfiguring facial infantile hemangioma. The use of beta-blockers as treatment offers clues into the pathogenesis of infantile hemangioma, which is not yet completely understood

  15. POSTER PRESENTATION Open Access Infantile de novo primary antiphospholipid

    E-print Network

    Paris-Sud XI, Université de

    Rheumatology European Society (PReS) Congress Bruges, Belgium. 14-18 September 2011 Ba Antiphospholipid IgG Rheumatology 2011, 9.: Infantile de novo primary antiphospholipid syndrome revealed by neonatal stroke. Pediatric Rheumatology 2011

  16. ACTH therapy in infantile spasms: side effects.

    PubMed Central

    Riikonen, R; Donner, M

    1980-01-01

    162 children with infantile spasms were treated with ACTH at the Children's Hospital, Helsinki, and at the Aurora Hospital, Helsinki, during 1960--76. In a large proportion (37%) of the children the treatment caused pronounced side effects, and the mortality was 4.9%. The most common complications were infections: septic infections, pneumonias, and urinary and gastrointestinal infections. Other side effects were arterial hypertension (11), osteoporosis (2), hypokalaemic alkalosis (2), and other marked electrolyte disturbances (10). In children necropsy showed fresh intracerebral haemorrhages. Four children developed oliguria and hyperkalaemia during and after withdrawal of ACTH. One of them had tubular necrosis confirmed by renal biopsy. Infections were significantly more common with large doses (120 units) of ACTH than with small ones (40 units). It is concluded that side effects, even severe ones, are more common during treatment than had been assumed. Careful watch is important before and after treatment. The benefit of very high dosages should also be reconsidered. PMID:6254450

  17. Surgical management of large scalp infantile hemangiomas

    PubMed Central

    Khan, Imad S.; Kiehna, Erin N.; Satti, Komal F.; Ehtesham, Moneeb; Ghiassi, Mahan; Singer, Robert J.

    2014-01-01

    Background: Infantile Hemangiomas (IH) are the most common benign tumor of infancy, occurring in over 10% of newborns. While most IHs involute and never require intervention, some scalp IHs may cause severe cosmetic deformity and threaten tissue integrity that requires surgical excision. Case Description: We present our experience with two infants who presented with large scalp IH. After vascular imaging, the patients underwent surgical resection of the IH and primary wound closure with excellent cosmetic outcome. We detail the surgical management of these cases and review the relevant literature. Conclusion: In some cases the IHs leave behind fibro-fatty residuum causing contour deformity. Surgery is often required for very large lesions causing extensive anatomical and/or functional disruption. The goal of surgical intervention is to restore normal anatomic contour and shape while minimizing the size of the permanent scar. PMID:24818048

  18. Infantile hypertrophic pyloric stenosis in twins

    PubMed Central

    Kundal, Vijay Kumar; Gajdhar, Mufique; Shukla, Arvind Kumar; Kundal, Raksha

    2013-01-01

    Infantile hypertrophic pyloric stenosis (IHPS) is a common surgical cause of vomiting, which requires surgery in infant. There is the complete or partial obstruction of pylorus due to hypertrophy of circular muscle of the pylorus leading gastric outlet obstruction. The occurrence of IHPS in dizygotic twins is rarer and the theory of genetic origin alone does not explain it. Recent literature points to the association of bottle feeding in singletons to be a major aetiological factor for this condition. Here, we present a rare case of dizygotic twins who were bottle-fed and were affected with IHPS. We review the literature and focus on the question of whether this condition in twins supports a genetic or environmental origin of IHPS. PMID:23576655

  19. Infantile neuroaxonal dystrophy: What's most important for the diagnosis?

    Microsoft Academic Search

    Inês Carrilho; Manuela Santos; António Guimarães; João Teixeira; Rui Chorão; Márcia Martins; Cristina Dias; Allison Gregory; Shawn Westaway; Thuy Nguyen; Susan Hayflick; Clara Barbot

    2008-01-01

    Background and aimsInfantile neuroaxonal dystrophy is a rare neurodegenerative disorder, with onset in the first 2 years of life. Mutations in the PLA2G6 gene were identified in patients with infantile neuroaxonal dystrophy. Our purpose was to review clinical, neurophysiologic, neuroradiologic and neuropathological features of our patients in order to identify the earliest signs of disease. We also correlate these data

  20. Non-malignant Fibrosing Tumors in the Pediatric Hand: A Clinicopathologic Case Review

    PubMed Central

    Baumholtz, Michael A.; Popek, Edwina; Schneider, Adam M.

    2008-01-01

    Non-malignant fibrosing tumors in the pediatric hand or juvenile fibromatoses are clinically challenging because of their relatively infrequent occurrence and because of the variety of names associated with these diseases. We conducted a review of a personal case series of pediatric patients with these tumors and discuss here the more common histologic types and clinical characteristics of the disease spectrum in the context of the available published literature. All histologic samples were reviewed by a single pathologist. Infantile myofibromatosis, fibrous hamartoma of infancy, juvenile aponeurotic fibromatosis, palmar fibromatosis (Dupuytren’s type), infantile digital fibromatosis (Reye’s tumor), fibroma of the tendon sheath, and melorheostosis represent the encountered lesions. PMID:19048350

  1. Primary Malignant Rhabdoid Melanoma

    PubMed Central

    Chung, Bo Young; Ahn, In Su; Cho, Soo Ick; Kim, Hye One; Kim, Kwang Ho; Park, Chun Wook

    2011-01-01

    Melanoma with rhabdoid features is an uncommon variant of malignant melanoma. Here, we describe a rare case of primary rhabdoid malignant melanoma. A 54-year-old man presented with a black tumor measuring 3×4 cm on the right forearm. Histologic sections showed a tumor mass with rhabdoid features composed entirely of polygonal neoplastic cells with eccentric nuclei, prominent nucleoli, and large hyaline cytoplasmic inclusions. The tumor cells were immunoreactive with HMB-45, S100, Fontana-Masson silver and vimentin, and negative for smooth muscle actin, CD68, CD34, CD99, synaptophysin, desmin, and PAS. The differential diagnosis for this tumor included malignant peripheral nerve sheath tumor, malignant peripheral neuroectodermal tumor and rhabdomyosarcoma. The patient was treated with a wide excision and a local skin graft. The excised tumor was entirely composed of rhabdoid tumor cells. No recurrence or metastasis was evident 4 months after removal. This article is relevant to rare cases of primary malignant melanomas showing rhabdoid tumor cells over the entire excised lesion. PMID:22148039

  2. Primary malignant rhabdoid melanoma.

    PubMed

    Chung, Bo Young; Ahn, In Su; Cho, Soo Ick; Kim, Hye One; Kim, Kwang Ho; Park, Chun Wook; Lee, Cheol Heon

    2011-10-01

    Melanoma with rhabdoid features is an uncommon variant of malignant melanoma. Here, we describe a rare case of primary rhabdoid malignant melanoma. A 54-year-old man presented with a black tumor measuring 3×4 cm on the right forearm. Histologic sections showed a tumor mass with rhabdoid features composed entirely of polygonal neoplastic cells with eccentric nuclei, prominent nucleoli, and large hyaline cytoplasmic inclusions. The tumor cells were immunoreactive with HMB-45, S100, Fontana-Masson silver and vimentin, and negative for smooth muscle actin, CD68, CD34, CD99, synaptophysin, desmin, and PAS. The differential diagnosis for this tumor included malignant peripheral nerve sheath tumor, malignant peripheral neuroectodermal tumor and rhabdomyosarcoma. The patient was treated with a wide excision and a local skin graft. The excised tumor was entirely composed of rhabdoid tumor cells. No recurrence or metastasis was evident 4 months after removal. This article is relevant to rare cases of primary malignant melanomas showing rhabdoid tumor cells over the entire excised lesion. PMID:22148039

  3. A genetic and biologic classification of infantile spasms

    PubMed Central

    Paciorkowski, Alex R.; Thio, Liu Lin; Dobyns, William B.

    2011-01-01

    Infantile spasms are an age-dependent epilepsy that are highly associated with cognitive impairment, autism, and movement disorders. Previous classification systems have focused on a distinction between symptomatic and cryptogenic etiologies, and have not kept pace with the recent discoveries of mutations in genes in key pathways of central nervous system development in patients with infantile spasms. Children with certain genetic syndromes are much more likely to have infantile spasms, and we review the literature to propose a genetic classification of these disorders. Children with these genetic associations with infantile spasms also have phenotypes beyond epilepsy that may be explained by recent advances in the understanding of underlying biological mechanisms. We therefore also propose a biologic classification of the genes highly associated with infantile spasms, and articulate models for infantile spasms pathogenesis based on that data. The two best described pathways of pathogenesis are abnormalities in the gene regulatory network of GABAergic forebrain development, and abnormalities in molecules expressed at the synapse. We intend for these genetic and biologic classifications to be flexible, and hope that they will encourage much needed progress in syndrome recognition, clinical genetic testing, and ultimately the development of new therapies that target specific pathways of pathogenesis. PMID:22114996

  4. Malignancy-Associated Dyslipidemia

    PubMed Central

    Bielecka-D?browa, Agata; Hannam, Simon; Rysz, Jacek; Banach, Maciej

    2011-01-01

    Cholesterol and triglycerides, important lipid constituents of cell, are essential to carry out several vital physiological functions. Lipids might be associated with cancers because they play a key role in the maintenance of cell integrity. The pathway for cholesterol synthesis may also produce various tumorigenic compounds and cholesterol serves as a precursor for the synthesis of many sex hormones linked to increased risk of various cancers. In some malignant diseases, blood cholesterol undergoes early and significant changes. The mechanism for the link between cancer and cholesterol remains controversial. The dates from studies are confusing because both hypolipidemia and hypercholesterolemia might be connected with malignancy. Not only cancers but also antineoplastic therapies have an influence on lipid profile. There are also dates suggesting that antihyperlipemic drugs might nfluenced malignancy. PMID:21660223

  5. Surveillance for gastrointestinal malignancies

    PubMed Central

    Tiwari, Ashish K; Laird-Fick, Heather S; Wali, Ramesh K; Roy, Hemant K

    2012-01-01

    Gastrointestinal (GI) malignancies are notorious for frequently progressing to advanced stages even in the absence of serious symptoms, thus leading to delayed diagnoses and dismal prognoses. Secondary prevention of GI malignancies through early detection and treatment of cancer-precursor/premalignant lesions, therefore, is recognized as an effective cancer prevention strategy. In order to efficiently detect these lesions, systemic application of screening tests (surveillance) is needed. However, most of the currently used non-invasive screening tests for GI malignancies (for example, serum markers such as alpha-fetoprotein for hepatocellular carcinoma, and fecal occult blood test, for colon cancer) are only modestly effective necessitating the use of highly invasive endoscopy-based procedures, such as esophagogastroduodenoscopy and colonoscopy for screening purposes. Even for hepatocellular carcinoma where non-invasive imaging (ultrasonography) has become a standard screening tool, the need for repeated liver biopsies of suspicious liver nodules for histopathological confirmation can’t be avoided. The invasive nature and high-cost associated with these screening tools hinders implementation of GI cancer screening programs. Moreover, only a small fraction of general population is truly predisposed to developing GI malignancies, and indeed needs surveillance. To spare the average-risk individuals from superfluous invasive procedures and achieve an economically viable model of cancer prevention, it’s important to identify cohorts in general population that are at substantially high risk of developing GI malignancies (risk-stratification), and select suitable screening tests for surveillance in these cohorts. We herein provide a brief overview of such high-risk cohorts for different GI malignancies, and the screening strategies that have commonly been employed for surveillance purpose in them. PMID:22969223

  6. [Malignant primary intrathoracic histiocytofibroma].

    PubMed

    Natali, F; Fesselet, J; Jancovici, R; Pons, F; Schill, H; Genero-Gygax, M L; Vaylet, F; Allard, P

    1992-01-01

    Malignant primary intrathoracic fibrous histiocytoma (MFH) is a rare tumour: since it was first described in 1979, hardly more than 80 cases have been published. We present a large MFH which had started in the pleura and was intrathoracic. The tumour was typical, being comprised of malignant fibroblastic and histiocytoid cells in storiform arrangement. It was revealed by spinal bone metastases which multiplied over the whole skeleton in spite of chemotherapy. The patient died of cerebral metastasis developed 8 months after the onset of the disease. The cases found in the literature are gathered together and commented. PMID:1338999

  7. Familial malignant retroperitoneal paraganglioma.

    PubMed Central

    Sebastian, J. P.; Williams, S. E.; Wells, M.; Peake, M. D.

    1989-01-01

    Paragangliomas are neuroendocrine tumours and those occurring in the head and neck have well recognized familial association. Retroperitoneal paragangliomas are uncommon and we present two cases of familial malignant retroperitoneal paraganglioma. Review of the literature revealed marked differences in the incidence and malignant potential of familial and non-familial paraganglioma. In contrast to the cases reported here, familial tumours are generally benign, though they may occur at multiple sites. Familial and non-familial paragangliomas may indeed be different disease entities. Images Figure 1 Figure 2 Figure 3 PMID:2559401

  8. Desmoplastic malignant mesothelioma.

    PubMed

    Baççio?lu, Ay?e; Kaba, Erkan; Ozmen, Sevilay A; Demirci, Munir

    2013-04-01

    Desmoplastic mesothelioma is a rare subtype of diffuse malignant mesothelioma. A 72-year-old woman from East Anatolia presented with chest pain. The images of body positron emission tomography revealed irregular, left pleural thickening involving mediastinal and diaphragmatic surfaces with hypermetabolic characterization. The diagnosis of desmoplastic malignant mesothelioma was confirmed by minithoracotomy and immunohistochemical staining with pan-cytokeratin, cytokeratin 5/6, calretinin, carcinoembryonic antigen, thyroid transcription factor-1, CD15, and HMB-45 on the biopsy specimen. This case is unique in terms of the reporting patient being from a nonendemic area for asbestos-related diseases and in terms of its rare histopathology. PMID:23609252

  9. Immunotherapy for malignant glioma

    PubMed Central

    Suryadevara, Carter M.; Verla, Terence; Sanchez-Perez, Luis; Reap, Elizabeth A.; Choi, Bryan D.; Fecci, Peter E.; Sampson, John H.

    2015-01-01

    Malignant gliomas (MG) are the most common type of primary malignant brain tumor. Most patients diagnosed with glioblastoma (GBM), the most common and malignant glial tumor, die within 12–15 months. Moreover, conventional treatment, which includes surgery followed by radiation and chemotherapy, can be highly toxic by causing nonspecific damage to healthy brain and other tissues. The shortcomings of standard-of-care have thus created a stimulus for the development of novel therapies that can target central nervous system (CNS)-based tumors specifically and efficiently, while minimizing off-target collateral damage to normal brain. Immunotherapy represents an investigational avenue with the promise of meeting this need, already having demonstrated its potential against B-cell malignancy and solid tumors in clinical trials. T-cell engineering with tumor-specific chimeric antigen receptors (CARs) is one proven approach that aims to redirect autologous patient T-cells to sites of tumor. This platform has evolved dramatically over the past two decades to include an improved construct design, and these modern CARs have only recently been translated into the clinic for brain tumors. We review here emerging immunotherapeutic platforms for the treatment of MG, focusing on the development and application of a CAR-based strategy against GBM. PMID:25722935

  10. Immunotherapy for malignant glioma.

    PubMed

    Suryadevara, Carter M; Verla, Terence; Sanchez-Perez, Luis; Reap, Elizabeth A; Choi, Bryan D; Fecci, Peter E; Sampson, John H

    2015-01-01

    Malignant gliomas (MG) are the most common type of primary malignant brain tumor. Most patients diagnosed with glioblastoma (GBM), the most common and malignant glial tumor, die within 12-15 months. Moreover, conventional treatment, which includes surgery followed by radiation and chemotherapy, can be highly toxic by causing nonspecific damage to healthy brain and other tissues. The shortcomings of standard-of-care have thus created a stimulus for the development of novel therapies that can target central nervous system (CNS)-based tumors specifically and efficiently, while minimizing off-target collateral damage to normal brain. Immunotherapy represents an investigational avenue with the promise of meeting this need, already having demonstrated its potential against B-cell malignancy and solid tumors in clinical trials. T-cell engineering with tumor-specific chimeric antigen receptors (CARs) is one proven approach that aims to redirect autologous patient T-cells to sites of tumor. This platform has evolved dramatically over the past two decades to include an improved construct design, and these modern CARs have only recently been translated into the clinic for brain tumors. We review here emerging immunotherapeutic platforms for the treatment of MG, focusing on the development and application of a CAR-based strategy against GBM. PMID:25722935

  11. Malignant Catarrhal Fever

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Malignant catarrhal fever (MCF) is a frequently fatal viral disease of ruminant species, particularly cattle, bison, and deer. Clinical signs vary between species. Two major epidemiologic types of MCF exist, and are defined by the ruminant species that serve as natural reservoir hosts for infection...

  12. Cytoplasmic suppression of malignancy.

    PubMed

    Israel, B A; Schaeffer, W I

    1987-09-01

    Using both normal and transformed rat liver epithelial cells to prepare cytoplasmic hybrids (cybrids) we have found evidence to support the theory that the cytoplasm from a normal cell can suppress tumorigenicity. A unique aspect of this study is that all of the cells utilized, both normal and malignantly transformed, were derived from an original cloned cell. We found that fusing cytoplasts from normal cells to malignantly transformed whole cells resulted in cybrid clones which, when injected into newborn rat pups, isogenic with those from which the cell culture was initiated, yielded tumors in 51% of the animals injected compared to 92% of the animals injected with the tumorigenic parent. Those animals that did develop tumors from the cybrid cells survived longer than those injected with cells from the tumorigenic parent. Thus, the cybrid, formed of cytoplasm from both parents, was less tumorigenic than the malignantly transformed parent cell. When reconstituted cells were prepared by fusing cytoplasts from normal cells with karyoplasts from malignantly transformed cells, a situation in which essentially all of the cytoplasm of the reconstituted cell is derived from normal cells, the tumorigenic phenotype was extinguished. PMID:3654482

  13. Malignant adnexal neoplasms

    Microsoft Academic Search

    A Neil Crowson; Cynthia M Magro; Martin C Mihm

    2006-01-01

    Malignant cutaneous adnexal neoplasms are one of the most challenging areas of dermatopathology. Tumors of the pilosebaceous apparatus can occur as single-lineage neoplasms or may manifest as complex proliferations with multilineal differentiation patterns including not only the germinative component of the hair bulb, the inner or outer root sheath epithelium and the sebaceous gland and duct, but also the sweat

  14. Malignant tumors of childhood

    SciTech Connect

    Brooks, B.J.

    1986-01-01

    This book contains 34 papers about malignant tumors. some of the titles are: Invasive Cogenital Mesoblastic Nephroma, Leukemia Update, Unusual Perinatal Neoplasms, Lymphoma Update, Gonadal Germ Cell Tumors in Children, Nutritional Status and Cancer of Childhood, and Chemotherapy of Brain tumors in Children.

  15. San Crist6bal en la Amazonia: Colonialisrno, violencia y hechiceria infantil

    E-print Network

    Bermingham, Eldredge

    territorial, y brotes epide'micos.Los fun- dametztos tniticos de la creencia en la hechiceria infantil seticofallido. la creencia en la hechiceria infantil es uno de 10sproductos impredeciblesy trhgicos del

  16. Sinonasal malignancies of neuroendocrine origin.

    PubMed

    Rischin, Danny; Coleman, Andrew

    2008-12-01

    The sinonasal malignancies of putative neuroendocrine origin-esthesioneuroblastoma, sinonasal neuroendocrine carcinoma, sinonasal undifferentiated carcinoma, and sinonasal small cell carcinoma-are uncommon malignancies that frequently present with locally advanced disease. Pathologic distinction between these entities can be difficult, but is important to guide management. These malignancies require complex multimodality treatment and are best managed by multidisciplinary teams in major centers that have expertise in sinonasal malignancies. PMID:19010275

  17. Imaging of uncommon esophageal malignancies.

    PubMed

    Tirumani, H; Rosenthal, M H; Tirumani, S H; Shinagare, A B; Krajewski, K M; Ramaiya, N H

    2014-03-17

    Malignant esophageal neoplasms other than squamous cell carcinoma and adenocarcinoma are uncommon and include endocrine tumors, lymphoid malignancies, melanoma, malignant stromal tumors, and secondary tumors (metastases). Imaging, though not diagnostic in many cases, helps in selecting the appropriate treatment strategy by determining the anatomic extent of the tumor and locoregional and distant spread. In this article, we provide a comprehensive review of the imaging features of these uncommon esophageal malignancies. PMID:24635682

  18. Congenital myofibroma masquerading as an ulcerated infantile hemangioma in a neonate.

    PubMed

    Friedman, Ben J; Shah, Kara N; Taylor, Jesse A; Rubin, Adam I

    2013-01-01

    We report a case of a solitary infantile myofibroma masquerading as an ulcerated infantile hemangioma. Infantile myofibroma is a rare soft tissue tumor that has a good prognosis in the solitary form. It may be difficult to distinguish clinically from more common tumors of infancy such as an infantile hemangioma or from other rare entities and therefore requires a biopsy for definitive diagnosis. PMID:22276856

  19. Role of connexins in infantile hemangiomas.

    PubMed

    Blanke, Katja; Dähnert, Ingo; Salameh, Aida

    2013-01-01

    The circulatory system is one of the first systems that develops during embryogenesis. Angiogenesis describes the formation of blood vessels as a part of the circulatory system and is essential for organ growth in embryogenesis as well as repair in adulthood. A dysregulation of vessel growth contributes to the pathogenesis of many disorders. Thus, an imbalance between pro- and antiangiogenic factors could be observed in infantile hemangioma (IH). IH is the most common benign tumor during infancy, which appears during the first month of life. These vascular tumors are characterized by rapid proliferation and subsequently slower involution. Most IHs regress spontaneously, but in some cases they cause disfigurement and systemic complications, which requires immediate treatment. Recently, a therapeutic effect of propranolol on IH has been demonstrated. Hence, this non-selective ?-blocker became the first-line therapy for IH. Over the last years, our understanding of the underlying mechanisms of IH has been improved and possible mechanisms of action of propranolol in IH have postulated. Previous studies revealed that gap junction proteins, the connexins (Cx), might also play a role in the pathogenesis of IH. Therefore, affecting gap junctional intercellular communication is suggested as a novel therapeutic target of propranolol in IH. In this review we summarize the current knowledge of the molecular processes, leading to IH and provide new insights of how Cxs might be involved in the development of these vascular tumors. PMID:23596415

  20. Infantile subdural hematomas due to traffic accidents.

    PubMed

    Vinchon, Matthieu; Noizet, Odile; Defoort-Dhellemmes, Sabine; Soto-Ares, Gustavo; Dhellemmes, Patrick

    2002-11-01

    The most common cause of subdural hematomas (SDH) in infants is shaken-baby syndrome (SBS). The pathogenesis and natural history of infantile SDH (ISDH) are poorly documented, because in SBS, the date of shaking is usually imprecise and the assault is often repeated. Victims of traffic accidents (TA) form a study group close to experimental conditions, because the trauma is unique, witnessed and dated. We reviewed 18 cases of SDH due to TA in infants under the age of 24 months. Our goal was to investigate the clinical and radiological data and natural history of SDH. A subdural collection was found on the day of trauma in 7 cases. In 3 of these, the collection was already hypodense. The perifalcine region was the most frequent site of intracranial bleeding. Blood hyperdensity was always found on CT scans performed during the first week, and turned hypodense on about the 9th day. Three patients had retinal hemorrhage, of a type distinct from that found in SBS. Drainage of the SDH was required in 14 cases after a mean delay of 13.5 +/- 5.8 days after trauma. Four patients also required a ventriculoperitoneal shunt because of associated hydrocephalus. Our data suggest that impaired CSF drainage plays a large role in the pathogenesis of ISDH. The fact that a single and recent trauma can result in mixed-density ISDH can be of great importance in forensic medicine. PMID:12411716

  1. A Rare Malignant Triton Tumor

    Microsoft Academic Search

    Kalpalata Tripathy; Rabinarayan Mallik; Aparajita Mishra; Debiprasad Misra; Niranjan Rout; Padmalaya Nayak; Sagarika Samantray; Jayshree Rath

    2010-01-01

    Malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation, malignant triton tumor, has a rare incidence. We report such a case in a 40-year-old male who presented with a mass over the buttock. He was a previously diagnosed case of neurofibroma in the same area. Histomorphology supported by immunostaining with S-100 protein confirmed the diagnosis. Malignant triton tumor has a poor

  2. Recent advances in the pharmacotherapy of infantile spasms.

    PubMed

    Riikonen, Raili

    2014-04-01

    Adrenocorticotrophic hormone (ACTH), oral corticosteroids and vigabatrin are now first-line treatments for infantile spasms in the US and Europe. There is now increased knowledge regarding the role of ACTH, corticosteroids and vigabatrin (e.g. efficacy, doses, side effects, treatment in specific aetiological subtypes of infantile spasms), and other antiepileptic drugs (i.e. topiramate, valproate, zonisamide, sulthiame, levetiracetam, lamotrigine, pyridoxine, ganaxolone), as well as adjunctive flunarizine and novel drugs not yet in clinical use for infantile spasms (i.e. pulse rapamycin and melanocortin receptor agonists). The existence of a latent period, weeks to months following a precipitating brain insult, raises the possibility of preventive interventions. Recent experimental data emerging from animal models of infantile spasms have provided optimism that new and innovative treatments can be developed, and knowledge that drug treatment can affect long-term cognitive outcome is increasing. The aim of this article is to review recent developments in the pharmacotherapy of infantile spasms and to highlight the practical implications of the latest research. PMID:24504827

  3. Orbital masses: CT and MRI of common vascular lesions, benign tumors, and malignancies

    PubMed Central

    Khan, Sarah N.; Sepahdari, Ali R.

    2012-01-01

    A wide variety of space occupying lesions may be encountered in the orbit. CT and MR imaging frequently help confirm the presence of a mass and define its extent. Characteristic imaging features may help distinguish among lesions that have overlapping clinical presentations. This review focuses on some of the common orbital masses. Common vascular lesions that are reviewed include: capillary (infantile) hemangioma, cavernous hemangioma (solitary encapsulated venous-lymphatic malformation), and lymphangioma (venous-lymphatic malformation). Benign tumors that are reviewed include: optic nerve sheath meningioma, schwannoma, and neurofibroma. Malignancies that are reviewed include: lymphoma, metastasis, rhabdomyosarcoma, and optic glioma. Key imaging features that guide radiological diagnosis are discussed and illustrated. PMID:23961022

  4. Pembrolizumab in Treating Patients With Malignant Mesothelioma

    ClinicalTrials.gov

    2015-03-20

    Biphasic Mesothelioma; Epithelioid Mesothelioma; Peritoneal Malignant Mesothelioma; Pleural Biphasic Mesothelioma; Pleural Epithelioid Mesothelioma; Pleural Malignant Mesothelioma; Pleural Sarcomatoid Mesothelioma; Recurrent Peritoneal Malignant Mesothelioma; Recurrent Pleural Malignant Mesothelioma; Sarcomatoid Mesothelioma

  5. Hyaluronan in human malignancies

    SciTech Connect

    Sironen, R.K. [Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, P.O. Box 1627, FI-70211 Kuopio (Finland) [Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, P.O. Box 1627, FI-70211 Kuopio (Finland); Department of Pathology, Kuopio University Hospital, P.O. Box 1777, FI-70211 Kuopio (Finland); Tammi, M.; Tammi, R. [Institute of Biomedicine, Anatomy, University of Eastern Finland, P.O. Box 1627, FI-70211 Kuopio (Finland)] [Institute of Biomedicine, Anatomy, University of Eastern Finland, P.O. Box 1627, FI-70211 Kuopio (Finland); Auvinen, P.K. [Department of Oncology, Kuopio University Hospital, P.O. Box 1777, FI-70211 Kuopio (Finland)] [Department of Oncology, Kuopio University Hospital, P.O. Box 1777, FI-70211 Kuopio (Finland); Anttila, M. [Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, P.O. Box 1627, FI-70211 Kuopio (Finland) [Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, P.O. Box 1627, FI-70211 Kuopio (Finland); Department of Gynecology and Obstetrics, Kuopio University Hospital, P.O. Box 1777, FI-70211 Kuopio (Finland); Kosma, V-M., E-mail: Veli-Matti.Kosma@uef.fi [Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, P.O. Box 1627, FI-70211 Kuopio (Finland); Department of Pathology, Kuopio University Hospital, P.O. Box 1777, FI-70211 Kuopio (Finland)

    2011-02-15

    Hyaluronan, a major macropolysaccharide in the extracellular matrix of connective tissues, is intimately involved in the biology of cancer. Hyaluronan accumulates into the stroma of various human tumors and modulates intracellular signaling pathways, cell proliferation, motility and invasive properties of malignant cells. Experimental and clinicopathological evidence highlights the importance of hyaluronan in tumor growth and metastasis. A high stromal hyaluronan content is associated with poorly differentiated tumors and aggressive clinical behavior in human adenocarcinomas. Instead, the squamous cell carcinomas and malignant melanomas tend to have a reduced hyaluronan content. In addition to the stroma-cancer cell interaction, hyaluronan can influence stromal cell recruitment, tumor angiogenesis and epithelial-mesenchymal transition. Hyaluronan receptors, hyaluronan synthases and hyaluronan degrading enzymes, hyaluronidases, are involved in the modulation of cancer progression, depending on the tumor type. Furthermore, intracellular signaling and angiogenesis are affected by the degradation products of hyaluronan. Hyaluronan has also therapeutic implications since it is involved in multidrug resistance.

  6. Malignant insulinoma in childhood.

    PubMed

    Karachaliou, Feneli; Vlachopapadopoulou, Elpis; Kaldrymidis, Philipos; Simatos, George; Zacharea, Maria; Spanidou-Karvouni, Erini; Michalacos, Stefanos; Voros, Dionyssios

    2006-05-01

    Pancreatic tumors constitute a rare surgical problem in infancy and childhood. Insulinomas are rare in all age groups with an estimated incidence of one per 250,000 person-years and even rarer in childhood. We report a 10 year-old girl with malignant insulinoma. The presenting symptom was hypoglycemic attacks. Laboratory investigation demonstrated that the hypoglycemia was due to hyperinsulinism. MRI of the abdomen revealed a mass at the tail of the pancreas. Distal pancreatectomy with splenectomy was performed. Histological examination showed malignant insulinoma with peripancreatic lymph node metastases. One month later abdominal MRI revealed the existence of multiple small metastatic foci in the liver, which were confirmed by In111 octreoscan. Treatment with octreotide was started and the disease is stable after 12 months of therapy. PMID:16789643

  7. Malignancy from Radium

    PubMed Central

    Loutit, J. F.

    1970-01-01

    Human experience of the toxicity of radium acts as a guide for the setting of occupationally permissible levels for radioactive nucleides, especially bone-seekers. Reviewing the published statements and photomicrographs in early reports especially those of Martland (1931) one can make a case that malignancy was induced in bone-marrow (leukaemia, malignant myelosclerosis) as well as in bone (osteosarcoma) by radium, especially with large doses. Three case reports of radium intoxication in Britons are noted as compatible with this suggestion, after revised interpretation in two of them. ImagesFigs. 9-10Fig. 4Fig. 5Figs. 11-12Figs. 6-7Fig. 8Figs. 13-14 PMID:5271269

  8. Managing malignant pericardial effusion.

    PubMed Central

    Buzaid, A C; Garewal, H S; Greenberg, B R

    1989-01-01

    The involvement of the pericardium by metastatic tumors is not uncommon, particularly in patients with lung cancer, breast cancer, lymphomas, leukemias, and melanomas. There are five therapeutic modalities for the treatment of malignant pericardial effusion, including pericardiocentesis, pericardial sclerosis, systemic chemotherapy, radiotherapy, and surgical treatment. The optimal treatment selection is dependent principally on a patient's life expectancy; responsiveness of the tumor to chemotherapy, irradiation, or both; and whether or not cardiac tamponade is present at diagnosis. The overall prognosis of patients with malignant pericardial effusion is primarily influenced by the extent and histologic features of the underlying cancer. Although this condition is usually incurable, a reasonable period of useful palliation can be obtained in most patients. Images PMID:2471362

  9. Epigenetics in the hematologic malignancies

    PubMed Central

    Fong, Chun Yew; Morison, Jessica; Dawson, Mark A.

    2014-01-01

    A wealth of genomic and epigenomic data has identified abnormal regulation of epigenetic processes as a prominent theme in hematologic malignancies. Recurrent somatic alterations in myeloid malignancies of key proteins involved in DNA methylation, post-translational histone modification and chromatin remodeling have highlighted the importance of epigenetic regulation of gene expression in the initiation and maintenance of various malignancies. The rational use of targeted epigenetic therapies requires a thorough understanding of the underlying mechanisms of malignant transformation driven by aberrant epigenetic regulators. In this review we provide an overview of the major protagonists in epigenetic regulation, their aberrant role in myeloid malignancies, prognostic significance and potential for therapeutic targeting. PMID:25472952

  10. Laparoscopic pancreatectomy for malignancy.

    PubMed

    Fisher, Sarah B; Kooby, David A

    2013-01-01

    Utilization of laparoscopic techniques for resection of the pancreas has slowly gained acceptance in specific situations and is now being applied to more challenging endeavors, such as pancreaticoduodenectomy for cancer. This review provides a summary of laparoscopic applications for pancreatic malignancy, with specific attention to the most common methods of pancreatic resection and their respective oncologic outcomes, including margin status, lymph node retrieval, and survival. PMID:22991263

  11. Pathogenesis of Malignant Melanoma

    Microsoft Academic Search

    Keith S. Hoek

    \\u000a It has long been known that cancer arises most frequently from cells in tissues which undergo constant renewal [12]. For example,\\u000a epithelial tissues of the skin and intestine are composed of cells which are renewed throughout life and are also often the\\u000a source of adult malignancies [4, 64]. Although the process is periodic rather than constant, melanocytes also undergo frequent

  12. The Efficacy Analysis of Endoscopic Third Ventriculostomy in Infantile Hydrocephalus

    PubMed Central

    He, Zhenhua; An, Caixia; Zhang, Xinding; He, Xiaodong

    2015-01-01

    Objective To investigate the efficacy of endoscopic third ventriculostomy (ETV) for infantile hydrocephalus. Methods Retrospectively reviewed the 17 infantile hydrocephalus cases who were treated with ETV between July 2009 and June 2013. The study includes 17 patients (4 Han and 13 Hui) between the ages of 51 and 337 days. Five cases with encephalitis history and 2 cases with cerebral hemorrhage, with the remaining 10 cases congenital hydrocephalus. ETVs were performed for all patients with 1 case failing because the severe ventricle inflammatory adhesion, excessive exudation, and vague basilar artery. Results Among the 16 successful cases 7 cases improved remarkably : heads and ventricles reduced and cerebral cortexes thickening morphologically. The ventricles of the remaining cases were unchanged. Conclusion The ethnic minority account for the majority of the patients in this study. ETV is effective for infantile obstructive hydrocephalus. PMID:25733993

  13. A case of infantile neuroaxonal dystrophy of neonatal onset.

    PubMed

    Fusco, Carlo; Frattini, Daniele; Panteghini, Celeste; Pascarella, Rosario; Garavaglia, Barbara

    2015-03-01

    Infantile neuroaxonal dystrophy is a rare neurodegenerative disorder, with onset in the first or second year of life. Mutations in the PLA2G6 gene encoding iPLA2-VI, a calcium-independent phospholipase, have been identified in these children. In classic infantile neuroaxonal dystrophy-affected children, psychomotor regression is the most frequent presentation, usually with ataxia and optic atrophy, followed by the development of tetraparesis. We report a child carrying a homozygous mutation in the PLA2G6 gene with neonatal onset of disease and somewhat different clinical phenotype such as severe congenital hypotonia, marked weakness, and bulbar signs suggesting that infantile neuroaxonal dystrophy can start at birth with atypical phenotype. PMID:24870368

  14. Chapter 10: Sinonasal malignancies.

    PubMed

    Harvey, Richard J; Dalgorf, Dustin M

    2013-01-01

    Malignant tumors of the sinonasal tract are uncommon tumors of the head and neck. Patients often present in the later years of life with unilateral symptoms and potential involvement of nearby structures such as the orbit, brain, or cranial nerves. Presenting symptoms are similar to patients suffering from inflammatory sinonasal disease and thus early diagnosis relies heavily on a high clinical suspicion. There are established risk factors based on exposure to the by-products of woodworking, metal, textile, and leather industries. Sinonasal malignancies are generally divided into those of epithelial origin (squamous cell carcinoma, adenocarcinoma, and adenoid cystic carcinoma) and nonepithelial origin (olfactory neuroblastoma, chondrosarcoma, and mucosal melanoma). Accurate histopathology confirmation and staging of the tumor is critical prior to making treatment decisions. Both computed tomography and magnetic resonance imaging are required to accurately determine the extent of local disease. Treatment is based on multimodality therapy, primarily surgical excision, and postoperative radiotherapy. This article reviews the classification of malignant tumors of the paranasal sinuses, their clinical presentation, relevant diagnostic investigations, and the principals of therapy and management. PMID:23711038

  15. Familial Malignant Melanoma - Overview

    PubMed Central

    2004-01-01

    Approximately 3-15% of all malignant melanomas (MM) are familial cases. MM is a highly heterogeneous tumour type from a genetic perspective. Pedigrees with disease confined to a single generation of siblings or MM occurring among second- or third-degree relatives suggest multifactorial polygenic inheritance. However, not infrequently, within large families aggregations of MM are consistent with autosomal dominant inheritance, suggesting a hereditary syndrome caused by germline alterations of a single gene. Several different genes are involved in the development of MM. However, even when taken together they are responsible for less than 20% of all MM cases. It is thus necessary to perform association studies focused on genetic markers that could be used in identifying patients with a high risk of MM. Evaluation of aggregations of MM and other malignancies, like breast cancer, could be essential in identifying relatives of MM probands being at high risk of developing malignancies other than MM. The ultimate goal is to apply in these cases prevention recommendations and surveillance protocols to reduce the disease risk. PMID:20233466

  16. Immunotherapy for malignant gliomas.

    PubMed

    Bloch, Orin

    2015-01-01

    Cancer immunotherapy aims to harness the innate ability of the immune system to recognize and destroy malignant cells. Immunotherapy for malignant gliomas is an emerging field that promises the possibility of highly specific and less toxic treatment compared to conventional chemotherapy. In addition, immunotherapy has the added benefit of sustained efficacy once immunologic memory is induced. Although there are numerous therapeutic agents that boost general immune function and facilitate improved antitumor immunity, to date, immunotherapy for gliomas has focused primarily on active vaccination against tumor-specific antigens. The results of numerous early phase clinical trials demonstrate promising results for vaccine therapy, but no therapy has yet proven to improve survival in a randomized, controlled trial. The major barrier to immunotherapy in malignant gliomas is tumor-induced immunosuppression. The mechanisms of immunosuppression are only now being elucidated, but clearly involve a combination of factors including regulatory T cells, tumor-associated PD-L1 expression, and CTLA-4 signaling. Immunomodulatory agents have been developed to combat these immunosuppressive factors and have demonstrated efficacy in other cancers. The future of glioma immunotherapy likely lies in a combination of active vaccination and immune checkpoint inhibition. PMID:25468230

  17. Asbestos-related malignancy

    SciTech Connect

    Talcott, J.A.; Antman, K.H.

    1988-05-01

    Asbestos-associated malignancies have received significant attention in the lay and medical literature because of the increasing frequency of two asbestos-associated tumors, lung carcinoma and mesothelioma; the wide distribution of asbestos; its status as a prototype environmental carcinogen; and the many recent legal compensation proceedings, for which medical testimony has been required. The understanding of asbestos-associated carcinogenesis has increased through study of animal models, human epidemiology, and, recently, the application of modern molecular biological techniques. However, the detailed mechanisms of carcinogenesis remain unknown. A wide variety of malignancies have been associated with asbestos, although the strongest evidence for a causal association is confined to lung cancer and mesothelioma. Epidemiological studies have provided evidence that both the type of asbestos fiber and the industry in which the exposure occurs may affect the rates of asbestos-associated cancers. It has been shown that asbestos exerts a carcinogenic effect independent of exposure to cigarette smoking that, for lung cancers, is synergistically enhanced by smoking. Other questions remain controversial, such as whether pulmonary fibrosis necessarily precedes asbestos-associated lung cancer and whether some threshold level of exposure to asbestos (including low-dose exposures that may occur in asbestos-associated public buildings) may be safe. Mesothelioma, the most closely asbestos-associated malignancy, has a dismal natural history and has been highly resistant to therapy. However, investigational multi-modality therapy may offer benefit to some patients. 179 references.

  18. Malignant Catatonia Mimicking Pheochromocytoma

    PubMed Central

    Li, Dailin

    2013-01-01

    Malignant catatonia is an unusual and highly fatal neuropsychiatric condition which can present with clinical and biochemical manifestations similar to those of pheochromocytoma. Differentiating between the two diseases is essential as management options greatly diverge. We describe a case of malignant catatonia in a 20-year-old male who presented with concurrent psychotic symptoms and autonomic instability, with markedly increased 24-hour urinary levels of norepinephrine at 1752?nmol/day (normal, 89–470?nmol/day), epinephrine at 1045?nmol/day (normal, <160?nmol/day), and dopamine at 7.9??mol/day (normal, 0.4–3.3??mol/day). The patient was treated with multiple sessions of electroconvulsive therapy, which led to complete clinical resolution. Repeat urine collections within weeks of this presenting event revealed normalization or near normalization of his catecholamine and metanephrine levels. Malignant catatonia should be considered in the differential diagnosis of the hypercatecholamine state, particularly in a patient who also exhibits concurrent catatonic features. PMID:24251048

  19. The Molecular Basis of Dutch Infantile Nephropathic Cystinosis

    Microsoft Academic Search

    Sandra G. Heil; Elena Levtchenko; Leo A. H. Monnens; Frans J. M. Trijbels; Henk J. Blom

    2001-01-01

    Infantile nephropathic cystinosis, an inborn error of metabolism with an autosomal recessive inheritance pattern, is characterized by lysosomal storage of the amino acid cystine due to an impaired transport of cystine out of the lysosomes. Initial clinical features consist of the renal Fanconi syndrome and crystals in the cornea. Oral therapy with cysteamine lowers the intracellular cystine content. Recently, the

  20. Infantile Spasms and Cytomegalovirus Infection: Antiviral and Antiepileptic Treatment

    ERIC Educational Resources Information Center

    Dunin-Wasowicz, Dorota; Kasprzyk-Obara, Jolanta; Jurkiewicz, Elzbieta; Kapusta, Monika; Milewska-Bobula, Bogumila

    2007-01-01

    From 1 January 1995 to 31 December 2004, 22 patients (13 males, nine females; age range 2-12mo) with infantile spasms and cytomegalovirus (CMV) infection were treated with intravenous ganciclovir (GCV) and antiepileptic drugs. GCV was given for 3 to 12 weeks with a 1-month interval (one, two, or three courses). Epileptic spasms occurred before…

  1. The yield of laboratory investigations in children with infantile autism

    Microsoft Academic Search

    B. Kosinovsky; S. Hermon; R. Yoran-Hegesh; A. Golomb; Y. Senecky; H. Goez; U. Kramer

    2005-01-01

    Summary. Purpose: To evaluate the yield of laboratory investigations in infantile autism. Methods: We retrieved and evaluated the results of investigative procedures recorded in the medical files of autistic infants in four child developmental centers and two pediatric psychiatric outpatient clinics. Results: One-hundred and thirty-two infants were included in the study of whom 47 (36%) underwent autistic regression at an

  2. The Organic Etiology of Infantile Autism: Myth or Fact?

    ERIC Educational Resources Information Center

    Sanua, Victor D.

    The author reviews theories and research on the etiology of infantile autism, specifically regarding its organic basis. He cites controversies over its organic vs. environmental basis and over the family's impact on autism. Quotes from such theoriests as L. Kanner, B. Bettleheim, and B. Rimland are presented along with E. R. Ritvo and M. Coleman.…

  3. Molecular genetics of infantile-onset retinal dystrophies

    Microsoft Academic Search

    P Moradi; A T Moore

    2007-01-01

    IntroductionOver the last decade there have been major advances in our understanding of the molecular pathology of inherited retinal dystrophies.DiscussionThis paper reviews recent advances in the identification of genetic mutations underlying infantile-onset inherited retinal disorders and considers how this knowledge may lead to novel therapeutic approaches.

  4. Clinical spectrum of infantile scimitar syndrome: A tertiary center experience

    PubMed Central

    Al Rukban, Hadeel; Al Ghaihab, Mohammed; Tamimi, Omar; Al-Saleh, Suhail

    2014-01-01

    Aim: Infantile scimitar syndrome is a rare condition, with most of the literature reports being limited to case reports and a few case series. The aim of this study was to review patients with infantile scimitar syndrome who presented to our hospital from July 2000 to January 2011. Materials and Methods: In this retrospective study, we evaluated the medical records of patients aged 0–14 years who were symptomatic before the age of 1 year and were subsequently diagnosed with the syndrome. A total of 16 patients with the infantile form of scimitar syndrome were identified from the database. Results: The median age at presentation was 14 days, with a median age at diagnosis of 55 days. Fifty-six percent of the patients were females. Tachypnea was the major presenting symptom and 13 out of 16 patients had pulmonary hypertension. Of the 13 patients with pulmonary hypertension, 7 had systemic collaterals, which were treated by coil occlusion together with medications, and 3 had corrective surgery. The mortality rate was 3/16 (18.8%) over the 10.5 years study period. Conclusions: Infantile scimitar syndrome is a rare congenital anomaly that needs a high degree of suspicion for early referral and management. The association of the syndrome with pulmonary hypertension leads to recurrent and prolonged hospitalization. PMID:24701082

  5. Advances in the management of congenital and infantile cataract

    Microsoft Academic Search

    I C Lloyd; J Ashworth; S Biswas; R V Abadi

    2007-01-01

    Congenital and infantile cataracts produce deprivation amblyopia and can thus cause lifelong visual impairment. Successful management is dependent on early diagnosis and referral for surgery when indicated. Accurate optical rehabilitation and postoperative supervision are essential.The timing of surgery and its relationship to the duration of deprivation is important. Unilateral congenital cataract surgery within 6 weeks of birth produces the best

  6. AYUDANDO A ORGANIZAR EL PENSAMIENTO INFANTIL: LOS MAPAS PRECONCEPTUALES

    Microsoft Academic Search

    Rosario Mérida Serrano

    La consideración de que el niño y la niña de Educación Infantil aún no pueden utilizar estrategias de aprendizaje para aprender a aprender, es un tópico que hemos de erradicar de las creencias y de las prácticas educativas que se desarrollan en esta etapa. Presentamos una nueva estrategia de aprendizaje denominada mapas preconceptuales, abordando su proceso de enseñanza- aprendizaje en

  7. Part One: Infantile Spasms--The New Consensus

    ERIC Educational Resources Information Center

    Pellock, John

    2011-01-01

    Infantile spasms (IS, West syndrome) represent a difficult to treat and sometimes not immediately recognized form of epilepsy which is relatively rare. West Syndrome or IS is one of the most recognized types of epileptic encephalopathy, a form of epilepsy usually associated with developmental regression and delay, frequently difficult to treat and…

  8. ALGUMAS CONSIDERAÇÕES SOBRE A EXPLORAÇÃO DO TRABALHO INFANTIL

    Microsoft Academic Search

    Juliana Franchi da Silva; Sabrina Lílian Belusso; Adayr da Silva Ilha

    RESUMO: A exploração do trabalho infantil não se restringe a apenas alguns países. É um fato que ocorre em todo mundo. No entanto, a maioria dessas crianças se encontra nos países em desenvolvimento. Há milhões de crianças que trabalham, umas em tempo integral e outras, combinam o trabalho com os estudos e com outras atividades não-econômicas. Milhões de crianças fazem

  9. [Infantile hemangioma and propranolol: a therapeutic "revolution". Literature review].

    PubMed

    Yilmaz, L; Dangoisse, C; Semaille, P

    2013-01-01

    Infantile hemangioma (IH) is the most common benign vascular tumour affecting children. Most infantile hemangiomas are self-limiting, but some require specific treatment. Propranolol has been proposed for the treatment of infantile hemangiomas. The aim of this study is to explore the mechanism of action of propranolol for the treatment of infantile hemangiomas and to demonstrate its safety and efficacy through a review of the literature. The non cardioselective bêta-blocker propranolol has been used in a pediatric setting for 40 years and, since 2008, has a new indication. A clearly significant improvement has been observed in the condition of children with complicated IH (10%) treated with propranolol. This new indication has been widely described in the international literature. Various explanations have been put forward for the mechanism of action including a vasoconstrictor, antiangiogenic and apoptotic effect of propranolol on the different cells making up an IH. Overall tolerance is good and the efficacy markedly superior to that of any other treatments used for this purpose. In conclusion, with its good tolerance profile and superior efficacy versus all the other available therapies, propranolol can be considered to be a first-line treatment for complicated IH. PMID:24505868

  10. Computerized tomography of brain in infantile spasms (West syndrome)

    Microsoft Academic Search

    A. H. Mahdi; M. D. Yohannan; P. J. Patel; T. M. Malabarey; T. M. Kolawole

    1990-01-01

    Computerized tomographic scanning of the brain was performed in 26 infants with Infantile spasms. Majority of the patients, 18 (69%) had some abnormality. Changes noted were cerebral atrophy in 12, calcifications in 5 and dysgenesis of the corpus callosum in 3 patients. One infant each had porencephaly, hydrocephalus and cavum septum pellucidum. Five patients had more than one abnormality simultaneously.

  11. Electrophysiology and colour perimetry in dominant infantile optic atrophy

    Microsoft Academic Search

    T A Berninger; W Jaeger; H Krastel

    1991-01-01

    A typical finding in dominant infantile optic atrophy (DIOA) is the variation of the phenotypic expression of the DIOA gene even within one family. It is of special interest for genetic consultation to evaluate an examination method for detecting subclinically involved patients. Seven patients of two families were examined. Three of them had the typical symptoms of DIOA: reduced visual

  12. Resolution of severe cardiomyopathy in infantile Pompe disease.

    PubMed

    Parent, John J; Schamberger, Marcus

    2015-01-01

    Infantile Pompe disease is a rare inborn error of metabolism characterized by severe hypertrophic cardiomyopathy and generalised hypotonia occurring in infancy. We present a case of an infant with severe hypertrophic cardiomyopathy that resolved after treatment with enzyme replacement therapy. PMID:25544546

  13. Antiangiogenic Agents in Myeloid Malignancies

    Microsoft Academic Search

    Magda Melchert; Alan F. List

    The role of angiogenesis in the development and progression of solid tumors has been well established over the 1980s and 1990s.\\u000a Through more recent investigations, it has become increasingly clear that neovascularization within the bone marrow of patients\\u000a with hematologic malignancies is of primary importance in the development and progression of these disorders. Evidence of\\u000a malignant angiogenesis in myeloid malignancies

  14. Bronchoalveolar lavage in malignancy.

    PubMed

    Poletti, Venerino; Poletti, Giovanni; Murer, Bruno; Saragoni, Luca; Chilosi, Marco

    2007-10-01

    Bronchoalveolar lavage is a useful diagnostic tool in diffuse or disseminated lung malignancies that do not involve the bronchial structures visible by endoscopy. The neoplastic histotype and the intraparenchymal neoplastic growth pattern are good predictors for diagnostic yield; adenocarcinoma, and tumors with lymphangitic or lepidic growth patterns are more easily diagnosed by bronchoalveolar lavage; in these cases the diagnostic yield reported is higher than 80%. In hematologic malignancies the diagnostic yield is quite good in secondary diffuse indolent B cell lymphomas and in primary B cell lymphomas of mucosa-associated lymphoid tissue (MALT) type but low in Hodgkin disease. Morphological analysis may be implemented by immunocytochemical or molecular tests to identify the cell lineage and the presence of monoclonality. Disorders in which bronchioloalveolar cell hyperplasia/dysplasia is a significant morphological component may have cytological features in bronchoalveolar lavage fluid that mimic lung neoplasms: acute respiratory distress syndrome (ARDS), acute interstitial pneumonitis (AIP), and acute exacerbation of idiopathic pulmonary fibrosis are the most important clinical entities in this group. PMID:17975781

  15. Oral potentially malignant disorders: Is malignant transformation predictable and preventable?

    PubMed Central

    van der Waal, Isaäc

    2014-01-01

    Leukoplakia is the most common potentially malignant disorder of the oral mucosa. The prevalence is approximately 1% while the annual malignant transformation ranges from 2% to 3%. At present, there are no reliable clinicopathological or molecular predicting factors of malignant transformation that can be used in an individual patient and such event can not truly be prevented. Furthermore, follow-up programs are of questionable value in this respect. Cessation of smoking habits may result in regression or even disappearance of the leukoplakia and will diminish the risk of cancer development either at the site of the leukoplakia or elsewhere in the mouth or the upper aerodigestive tract. The debate on the allegedly potentially malignant character of oral lichen planus is going on already for several decades. At present, there is a tendency to accept its potentially malignant behaviour, the annual malignant transformation rate amounting less than 0.5%. As in leukoplakia, there are no reliable predicting factors of malignant transformation that can be used in an individual patient and such event can not truly be prevented either. Follow-up visits, e.g twice a year, may be of some value. It is probably beyond the scope of most dentists to manage patients with these lesions in their own office. Timely referral to a specialist seems most appropriate, indeed. Key words:Oral potentially malignant disorders, oral leukoplakia, oral lichen planus. PMID:24905952

  16. From Infantile Citizens to Infantile Institutions: The Metaphoric Transformation of Political Economy in the 2008 Housing Market Crisis

    ERIC Educational Resources Information Center

    Foley, Megan

    2012-01-01

    The logic of political economy depends on a domestic metaphor, using the "oikos" or household as a model for the "polis." Historically, this metaphor has imagined citizens as the children of a paternal state. However during the 2008 housing crisis, this metaphor was turned upside down, depicting citizens as the parents of infantile state…

  17. Malignant peripheral nerve sheath tumors.

    PubMed

    Gupta, Gaurav; Maniker, Allen

    2007-01-01

    Malignant peripheral nerve sheath tumors (MPNSTs) are rare soft tissue sarcomas of ectomesenchymal origin. The World Health Organization coined the term MPNST to replace previous heterogeneous and often confusing terminology, such as "malignant schwannoma," "malignant neurilemmoma," "neurogenic sarcoma," and "neurofibrosarcoma." Malignant peripheral nerve sheath tumors arise from major or minor peripheral nerve branches or sheaths of peripheral nerve fibers, and are derived from Schwann cells or pluripotent cells of neural crest origin. The Schwann cell is thought to be the major contributor to the formation of benign as well as malignant neoplasms of the nerve sheath. While this fact remains essentially true, the identity of cell of origin of the MPNST remains elusive, and has not yet been conclusively identified. It has been suggested that these tumors may have multiple cell line origins. In this review, the authors discuss the epidemiology, diagnosis, management, and treatment of MPNSTs. PMID:17613203

  18. A Case of Infantile Alexander Disease Accompanied by Infantile Spasms Diagnosed by DNA Analysis

    PubMed Central

    Lee, Jung Mu; Kim, Ae Suk; Lee, Sun Ju; Cho, Sung Min; Lee, Dong Seok; Choi, Sung Min; Ki, Chang Seok; Kim, Jong Won

    2006-01-01

    Alexander disease (AD) is a rare leukodystrophy of the central nervous system of unknown etiology. AD is characterized by progressive failure of central myelination and the accumulation of Rosenthal fibers in astrocytes, and is inevitably lethal in nature. Symptomatically, AD is associated with leukoencephalopathy with macrocephaly, seizures, and psychomotor retardation in infants, and usually leads to death within the first decade. Its characteristic magnetic resonance imaging (MRI) findings have been described as demyelination predominantly in the frontal lobe. Moreover, dominant mutations in the GFAP gene, coding for glial fibrillary acidic protein (GFAP), a principal astrocytic intermediate filament protein, have been shown to lead to AD. The disease can now be detected by genetic diagnosis. We report the Korean case of an 8-month-old male patient with AD. He was clinically characterized due to the presence of psychomotor retardation, megalencephaly, spasticity, and recurrent seizures including infantile spasms which is a remarkable presentation. Demyelination in the frontal lobe and in a portion of the temporal lobe was demonstrated by brain MRI. Moreover, DNA analysis of peripheral blood showed the presence of a R239L mutation in the GFAP gene, involving the replacement of guanine with thymine. PMID:17043438

  19. Dialysable lymphocyte extract (DLyE) in infantile onset autism: A pilot study

    Microsoft Academic Search

    H. H. Fudenberg

    1996-01-01

    40 infantile autistic patients were studied. They ranged from 6 years to 15 years of age at entry. 22 were cases of classical\\u000a infantile autism; whereas 18 lacked one or more clinical defects associated with infantile autism (“pseudoautism”). Of the\\u000a 22 with classic autism, 21 responded to transfer factor (TF) treatment by gaining at least 2 points in symptoms severity

  20. Infectious pathogens and hematologic malignancy.

    PubMed

    Sadrzadeh, Hossein; Abtahi, Seyed M; Fathi, Amir T

    2012-12-01

    Infectious pathogens have been linked to the genesis of malignancy in a variety of different settings. Initial studies in virology led to the important discovery of key genetic alterations underlying common malignancies, and further, lent support to the notion that malignancy can be promoted by the process of viral infection and cellular transformation. In this review, we summarize a series of hematologic malignancies with derivations from and associations with infectious organisms. Among these are a variety of lymphomas, including Hodgkin's lymphoma (Hodgkin's disease), Burkitt lymphoma, and a host of other non-Hodgkin's lymphomas. Through innovative and ground-breaking studies, some of these malignancies have been directly linked to viral infection, such as the Epstein-Barr virus (EBV), while others have been merely associated with infection through epidemiologic studies and case-reports. Some malignancies have been demonstrated to be caused by viral infection, such as adult T-cell leukemia and lymphoma (ATLL), which is caused by the human T cell lymphotropic virus type I (HTLV-I), in certain endemic area. In the future, additional malignant states may be found to be associated with infectious etiology, which could allow for novel approaches to prevention and treatment. PMID:23272694

  1. What's new in infantile hemangiomas: current insights and future perspectives.

    PubMed

    Semkova, Kristina; Kazandjieva, Jana; Tsankov, Nikolai K

    2013-01-01

    Infantile hemangiomas are the most common benign vascular tumors of infancy. Their hallmark feature is the spontaneous involution over months to years after an initial rapid proliferation. The exact origin of infantile hemangiomas and the pathogenetic mechanism(s) of their life cycle are still unknown, but recent findings, including multipotent hemangioma-derived stem cells, vasculogenic activity, and response to hypoxic stimuli, give new insights into this common yet puzzling vascular tumor. beta-Blockers have been recently introduced as effective therapy alongside conventional modalities, such as corticosteroids and lasers. Better understanding of the pathogenesis is needed in the future to ensure a more focused treatment approach with high efficacy and good safety. PMID:24517038

  2. Slipped upper tibial epiphysis in infantile tibia vara: three cases.

    PubMed

    Sanghrajka, A P; Hill, R A; Murnaghan, C F; Simpson, A H R W; Bellemore, M C

    2012-09-01

    We describe three cases of infantile tibia vara resulting from an atraumatic slip of the proximal tibial epiphysis upon the metaphysis. There appears to be an association between this condition and severe obesity. Radiologically, the condition is characterised by a dome-shaped metaphysis, an open growth plate and disruption of the continuity between the lateral borders of the epiphysis and metaphysis, with inferomedial translation of the proximal tibial epiphysis. All patients were treated by realignment of the proximal tibia by distraction osteogenesis with an external circulator fixator, and it is suggested that this is the optimal method for correction of this complex deformity. There are differences in the radiological features and management between conventional infantile Blount's disease and this 'slipped upper tibial epiphysis' variant. PMID:22933505

  3. Simultaneous onset of infantile spasms in monozygotic twins.

    PubMed

    Coppola, Giangennaro; Grosso, Salvatore; Verrotti, Alberto; D'Aniello, Alfredo; Pascotto, Antonio

    2010-08-01

    The clinical, electroencephalographic, and genetic findings are reported for three pairs of monozygotic twins who developed infantile spasms in their first year. In all three pairs, the spasms started on the same day in each member of the pair. Neither sequencing of the ARX and CDKL5 (alias STK9) genes nor array comparative genomic hybridization assessment revealed any abnormalities. The long-term outcome was poor in all twins, although with different severity in individual pairs. These findings suggest that genes other than those currently known likely play a role in predisposition to infantile spasms, and that genetic susceptibility is linked to a variable phenotypic expression, ranging from quite benign to very severe, in monozygotic twins with no other apparent risk factors. PMID:20610124

  4. Caffey Disease or Infantile Cortical Hyperostosis: A Case Report

    PubMed Central

    Kutty, Narayanan; Thomas, Doylene; George, Lionel; John, Thomas B.

    2010-01-01

    Caffey disease or Infantile Cortical Hyperostosis (ICH) is a rare and mostly self limiting condition affecting young infants. It is characterized by acute inflammation of the periostium and the overlying soft tissue and is accompanied by systemic changes of irritability and fever. Diagnosis may be delayed as this disorder mimics a wide range of diseases including osteomyelitis, hypervitaminosis A, scurvy, bone tumors and child abuse. The emphasis here is to remind clinicians about the existence of the disease in this country. PMID:22125716

  5. Prenatal prescription of macrolide antibiotics and infantile hypertrophic pyloric stenosis

    Microsoft Academic Search

    William O Cooper; Wayne A Ray; Marie R Griffin

    2002-01-01

    Objective:To assess the association between prenatal antibiotics, including erythromycin, and infantile hypertrophic pyloric stenosis in a large cohort of infants.Methods:This was a retrospective cohort study of births to women enrolled in Tennessee Medicaid\\/TennCare, 1985–1997. Prescriptions for erythromycin, nonerythromycin macrolides, and other antibiotics were identified from pharmacy files linked with birth certificate files. The primary study outcome was development of pyloric

  6. A Rare Malignant Triton Tumor

    PubMed Central

    Tripathy, Kalpalata; Mallik, Rabinarayan; Mishra, Aparajita; Misra, Debiprasad; Rout, Niranjan; Nayak, Padmalaya; Samantray, Sagarika; Rath, Jayshree

    2010-01-01

    Malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation, malignant triton tumor, has a rare incidence. We report such a case in a 40-year-old male who presented with a mass over the buttock. He was a previously diagnosed case of neurofibroma in the same area. Histomorphology supported by immunostaining with S-100 protein confirmed the diagnosis. Malignant triton tumor has a poor prognosis owing to its aggressive biological behavior. The fact that the presence of this tumor in the buttock region is extremely rare has prompted the authors to report this case. PMID:20671860

  7. Environmental risk factors for early infantile atopic dermatitis.

    PubMed

    Wang, I J; Guo, Y L; Weng, H J; Hsieh, W S; Chuang, Y L; Lin, S J; Chen, P C

    2007-08-01

    Previous studies of predictors of atopic dermatitis (AD) in Asia have had limited sample size and small numbers of variables focused primarily on family history or dietary exposures. The purpose of this study was to evaluate the influence of various environmental risk factors for early infantile AD. We used multistage, stratified systematic sampling to recruit 2048 mother-child pairs from the Taiwan national birth registration in 2003. Information on environmental risk factors for infant AD gathered by questionnaire were available from 1760 infants at 6 months of age. Multiple logistic regression was used to estimate adjusted odds ratios (aORs) and their 95% confidence intervals (CIs) for risk factors for AD after adjusting for potential confounders. AD was noted in 118 of 1760 (6.7%) of the infants. After adjusting for maternal age and education, family history of atopy, infant gender, and gestational age, fungi on walls of the house [aOR 2.14 (95% CI 1.41-3.22)] and frequent use of microwave oven at home [aOR 1.71 (95% CI 1.13-2.58)] increased the risk of early infantile AD. This study suggests that environmental factors do play a role in early infantile AD. Fungi, a kind of aeroallergen, are especially important in humid climate as in Taiwan and their impacts might be felt at the early infant stage. The hazards of microwave use should be paid more attention. PMID:17617812

  8. Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis

    SciTech Connect

    Sharp, J.; Wheeler, R.B.; Jaervelae, I. [Rayne Institute, London (United Kingdom)] [and others

    1995-06-05

    The neuronal ceroid-lipofuscinoses (NCL) are a group of neurodegenerative disorders with an autosomal-recessive pattern of inheritance. There are 3 main categories of childhood NCL, namely, infantile, late-infantile, and juvenile NCL. These can be distinguished on the basis of age of onset, clinical course, and histopathology. A number of variant forms of NCL have also been mapped to chromosome areas 1p32 and 16p12, respectively. The gene for late-infantile NCL (LINCL), CLN2, has been excluded from both these loci, but its location is as yet unknown. Recently, CLN5, the gene for the Finnish variant form of LINCL, was mapped to 13q21.1-32. Using the 3 microsatellite markers which were most tightly linked to CLN5, we have excluded CLN2 from this region using a subset of 17 families. Thus, CLN2 represents a fourth distinct genetic locus involved in the pathogenesis of NCL. 6 refs., 1 fig., 1 tab.

  9. Acupuncture in Practice: Investigating Acupuncturists' Approach to Treating Infantile Colic

    PubMed Central

    2013-01-01

    Infantile colic is common, but no safe and effective conventional treatment exists. The use of acupuncture has increased despite weak evidence. This practitioner survey explores and discusses how infantile colic is regarded and treated in Traditional Chinese Medicine (TCM). The study is based on personal communication with 24 acupuncturists from nine countries. These acupuncturists specialize in pediatric acupuncture and represent different styles of acupuncture. Their experiences are discussed and related to relevant books and articles. Informants claimed good results when treating infants with colic. The TCM patterns commonly described by informants matched the textbooks to a great extent. The most common syndromes were “stagnation of food” and “Spleen Qi Xu.” Regarding treatment, some informants followed the teachers' and the textbook authors' advice on differentiated treatment according to syndrome. The points used most often were LI4, ST36, and Sifeng. Other informants treated all infants alike in one single point, LI4. The results demonstrate the diversity of TCM. The use of acupuncture for infantile colic presents an interesting option, but further research is needed in order to optimize the effects and protect infants from unnecessary or less effective treatment. PMID:24324513

  10. Infantile spasms are associated with abnormal copy number variations.

    PubMed

    Tiwari, Vijay N; Sundaram, Senthil K; Chugani, Harry T; Huq, A H M M

    2013-10-01

    The authors tested the hypothesis that de novo copy number variations (CNVs) implicated in known genomic disorders ("pathogenic CNVs") are significant predisposing factors of infantile spasms. The authors performed a genome-wide analysis of single-nucleotide polymorphism genotyping microarray data to identify the role of de novo/known pathogenic large CNVs in 13 trios of children affected by infantile spasms. A rare, large (4.8 Mb) de novo duplication was detected in the 15q11-13 region of 1 patient. In addition, 3 known pathogenic CNVs (present in the patient as well as 1 of the parents) were detected in total. In 1 patient, a known pathogenic deletion was detected in the region of 2q32.3. Similarly, in 1 other patient, 2 known pathogenic deletions in the regions of 16p11.2 and Xp22.13 (containing CDKL5) were detected. These findings suggest that some specific pathogenic CNVs predispose to infantile spasms and may be associated with different phenotypes. PMID:22914377

  11. Drugs Approved for Malignant Mesothelioma

    Cancer.gov

    This page lists cancer drugs approved by the Food and Drug Administration (FDA) for malignant mesothelioma. The list includes generic names and brand names. The drug names link to NCI's Cancer Drug Information summaries.

  12. AMG 319 Lymphoid Malignancy FIH

    ClinicalTrials.gov

    2015-02-16

    Cancer; Chronic Lymphocytic Leukemia; Diffuse Large Cell Lymphoma; Hematologic Malignancies; Hematology; Leukemia; Low Grade Lymphoma; Lymphoma; Mantle Cell Lymphoma; Non-Hodgkin's Lymphoma; Oncology; Oncology Patients; T Cell Lymphoma; Tumors

  13. Genetics Home Reference: Malignant hyperthermia

    MedlinePLUS

    ... this reaction occurs in response to some anesthetic gases, which are used to block the sensation of ... 000 instances in which people are given anesthetic gases. Susceptibility to malignant hyperthermia is probably more frequent, ...

  14. Ibrutinib for B cell malignancies

    PubMed Central

    2014-01-01

    Research over the role of Bruton’s agammaglobulinemia tyrosine kinase (BTK) in B-lymphocyte development, differentiation, signaling and survival has led to better understanding of the pathogenesis of B-cell malignancies. Down-regulation of BTK activity is an attractive novel strategy for treating patients with B-cell malignancies. Ibrutinib (PCI-32765), a potent inhibitor of BTK induces impressive responses in B-cell malignancies through irreversible bond with cysteine-481 in the active site of BTK (TH/SH1 domain) and inhibits BTK phosphorylation on Tyr223. This review discussed in details the role of BTK in B-cell signaling, molecular interactions between B cell lymphoma/leukemia cells and their microenvironment. Clinical trials of the novel BTK inhibitor, ibrutinib (PCI-32765), in B cell malignancies were summarized. PMID:24472371

  15. Microwave Ablation of Hepatic Malignancy

    PubMed Central

    Lubner, Meghan G.; Brace, Christopher L.; Ziemlewicz, Tim J.; Hinshaw, J. Louis; Lee, Fred T.

    2013-01-01

    Microwave ablation is an extremely promising heat-based thermal ablation modality that has particular applicability in treating hepatic malignancies. Microwaves can generate very high temperatures in very short time periods, potentially leading to improved treatment efficiency and larger ablation zones. As the available technology continues to improve, microwave ablation is emerging as a valuable alternative to radiofrequency ablation in the treatment of hepatic malignancies. This article reviews the current state of microwave ablation including technical and clinical considerations. PMID:24436518

  16. Malignant hemangiopericytoma of the bone

    Microsoft Academic Search

    H. R. Dürr; Andreas Nerlich; Andreas Lienemann; Peter Ernst Müller; H. J. Refior

    2000-01-01

    Hemangiopericytoma is a rare vascular tumor of pericyte origin with variable malignant potential. Very rarely, this tumor\\u000a occurs as a primary bone lesion. We present a case of a highly malignant hemangiopericytoma of the proximal tibia. Current\\u000a therapy consists of radical resection of the tumor with postoperative radiation therapy being recommended. Chemotherapy seems\\u000a to be useful in disseminated disease. The

  17. Use of the modified Atkins diet in infantile spasms refractory to first-line treatment

    Microsoft Academic Search

    Suvasini Sharma; Naveen Sankhyan; Sheffali Gulati; Anuja Agarwala

    This prospective, open label, uncontrolled study was performed to evaluate the efficacy and tolerability of the modified Atkins diet in children with refractory infantile spasms. Fifteen consecutive children aged six months to three years having daily infantile spasms in clusters with electroencephalographic evidence of hypsarrhythmia despite treatment with hormonal treatment (oral corticosteroids\\/adrenocorticotrophic hormone) and\\/or vigabatrin, and at least one additional

  18. Early Infantile Onset ‘‘Congenital’’ Rett Syndrome Variants: Swedish Experience Through Four Decades and Mutation Analysis

    Microsoft Academic Search

    Saideh Rajaei; Anna Erlandson; Marten Kyllerman; Margareta Albage; Isa Lundstrom; Ewa-Lotta Karrstedt; Bengt Hagberg

    2011-01-01

    The early infantile onset ‘‘congenital’’ variant of Rett syndrome presents with deviations of behavior from very early infancy. Here, we report on a clinical-genetic study in a collected series of 14 Swedish girls with early infantile onset Rett syndrome phenotype. The clinical diagnosis was based on symptom onset before the age of 6 months and the patients fulfilled 3 or

  19. As crianças pequenininhas produzem cultura? Considerações sobre educação e cultura infantil em creche

    Microsoft Academic Search

    Patrícia Dias Prado

    Resumo: Com o objetivo de compreender os encontros e desencontros do mundo da in- fância no âmbito da educação e da cultura em creche, assim como identificar as concepções do brincar atribuídas à educação infantil para crianças entre Oe 3 anos de idade e contribuir assim para a construção da Pedagogia da Educação Infantil, este artigo busca, no diálogo e

  20. Cutaneous malignant lymphomas: update 2006.

    PubMed

    Burg, Günter; Kempf, Werner; Cozzio, Antonio; Döbbeling, Udo; Feit, Josef; Golling, Philippa; Michaelis, Sonja; Schärer, Leo; Nestle, Frank; Dummer, Reinhard

    2006-11-01

    Cutaneous lymphomas represent a unique group of lymphomas and are the second most frequent extranodal lymphomas. As with other neoplasias, the pathogenesis is based mainly on a stepwise accumulation of mutations of suppressor genes and oncogenes caused by genetic, environmental or infectious factors. The diagnostic work-up includes clinical, histological, imaging and hematological investigations and in many cases immunohistochemical and molecular biological analyses. The current WHO/EORTC classification of cutaneous lymphomas differentiates "mature T-cell and NK-cell lymphomas", "mature B-cell lymphomas" and "immature hematopoietic malignancies", their variants and subgroups. It is compatible with the WHO classification for neoplasias of the hematopoietic and lymphoid tissue and respects the organ-specific peculiarities of primary cutaneous lymphomas. The assignment of the various types of cutaneous lymphomas into prognostic categories (pre-lymphomatous "abortive" disorders; definite malignant lymphomas of low-grade malignancy; definite malignant lymphomas of high-grade malignancy) provides essential information on the biological behavior and allows an appropriate planning of the therapeutic strategy, which may be topical or systemic and aggressive or non-aggressive. Besides the classical options for therapy, there are new and "experimental" strategies, the efficacy of which has to be studied in clinical trials. PMID:17081267

  1. Cardiac screening in infants with infantile hemangiomas before propranolol treatment.

    PubMed

    Blei, Francine; McElhinney, Doff B; Guarini, Ascanio; Presti, Salvatore

    2014-01-01

    There is no uniform pretreatment cardiac evaluation for infants treated with oral propranolol, which is now the drug of choice for hemangiomas of infancy requiring systemic medical intervention. The aim of this study was to report and evaluate the findings of pretreatment cardiac evaluation. Data were reviewed for patients evaluated by a single hemangioma specialist and a single pediatric cardiologist prior to initiation of propranolol for infantile hemangioma. Cardiac evaluation included a complete echocardiogram. From July 2009 through January 2013, 239 consecutive patients 12 months of age or younger (median 2.7 months) were screened. No patients had cardiac contraindications to propranolol. However, 50 patients (21%) had an abnormal echocardiogram: 39 atrial septal defects (5 associated with right heart enlargement), 6 ventricular septal defects, 2 patent ductus arteriosus, 1 aortic coarctation, 1 pulmonary valve stenosis, and 1 aberrant subclavian artery. Overall, 69 patients had an audible heart murmur, 44 of which were not associated with pathologic findings on echocardiogram. All patients with a ventricular septal defect and 16 of 39 with an atrial septal defect had a murmur. Two of seven patients with PHACE syndrome had cardiac anomalies. None of the findings precluded the use of propranolol. Assisted reproductive technologies were used in 18% of pregnancies, including in vitro fertilization in 12%. Cardiac contraindications to propranolol treatment are uncommon in patients with infantile hemangioma. However, anatomic abnormalities were more common than reported in the general population. Further study is necessary to determine whether there is a pathogenic relationship between cardiac defects and nonsyndromic infantile hemangioma. PMID:24889812

  2. Infantile hydrocephalus: a review of epidemiology, classification and causes.

    PubMed

    Tully, Hannah M; Dobyns, William B

    2014-08-01

    Hydrocephalus is a common but complex condition caused by physical or functional obstruction of CSF flow that leads to progressive ventricular dilatation. Though hydrocephalus was recently estimated to affect 1.1 in 1000 infants, there have been few systematic assessments of the causes of hydrocephalus in this age group, which makes it a challenging condition to approach as a scientist or as a clinician. Here, we review contemporary literature on the epidemiology, classification and pathogenesis of infantile hydrocephalus. We describe the major environmental and genetic causes of hydrocephalus, with the goal of providing a framework to assess infants with hydrocephalus and guide future research. PMID:24932902

  3. Effectiveness of treatments for infantile colic: systematic review

    PubMed Central

    Lucassen, P L B J; Assendelft, W J J; Gubbels, J W; van Eijk, J T M; van Geldrop, W J; Neven, A Knuistingh

    1998-01-01

    Objective: To evaluate the effectiveness of diets, drug treatment, and behavioural interventions on infantile colic in trials with crying or the presence of colic as the primary outcome measure. Data sources: Controlled clinical trials identified by a highly sensitive search strategy in Medline (1966-96), Embase (1986-95), and the Cochrane Controlled Trials Register, in combination with reference checking for further relevant publications. Keywords were crying and colic. Study selection: Two independent assessors selected controlled trials with interventions lasting at least 3 days that included infants younger than 6 months who cried excessively. Data synthesis: Methodological quality was assessed by two assessors independently with a quality assessment scale (range 0-5). Effect sizes were calculated as percentage success. Effect sizes of trials using identical interventions were pooled using a random effects model. Results: 27 controlled trials were identified. Elimination of cows’ milk protein was effective when substituted by hypoallergenic formula milks (effect size 0.22 (95% confidence interval 0.09 to 0.34)). The effectiveness of substitution by soy formula milks was unclear when only trials of good methodological quality were considered. The benefit of eliminating cows’ milk protein was not restricted to highly selected populations. Dicyclomine was effective (effect size 0.46 ( 0.33 to 0.60)), but serious side effects have been reported. The advice to reduce stimulation was beneficial (effect size 0.48 (0.23 to 0.74)), whereas the advice to increase carrying and holding seemed not to reduce crying. No benefit was shown for simethicone. Uncertainty remained about the effectiveness of low lactose formula milks. Conclusions: Infantile colic should preferably be treated by advising carers to reduce stimulation and with a one week trial of a hypoallergenic formula milk. Key messages Infantile colic is common during the first months of life, but its cause is unknown A definite diagnosis of infantile colic should be followed by a one week trial of substituting cows’ milk with hypoallergenic formula milk Dietary intervention should be combined with behavioural interventions: general advice, reassurance, reduction in stimuli, and sensitive differential responding (teaching parents to be more appropriately responsive to their infants with less overstimulation and more effective soothing) Anticholinergic drugs are not recommended because of their serious side effects PMID:9596593

  4. Management of infantile hemangiomas : current and potential pharmacotherapeutic approaches.

    PubMed

    Craiglow, Brittany G; Antaya, Richard J

    2013-04-01

    Infantile hemangiomas (IH), benign vascular neoplasms, are the most common tumors of infancy and childhood. Most IH are medically insignificant; however, a proportion will require treatment because of interference with vital structures, threat of significant disfigurement, ulceration, or bleeding. This article reviews current and potential pharmacotherapeutic approaches to the treatment of IH. While corticosteroids have long been considered the mainstay of medical therapy for IH, several new treatments have recently emerged, the most promising of which is oral propranolol. Topical timolol and imiquimod are additional new therapies that may also prove to be effective, particularly for the treatment of superficial IH. PMID:23456550

  5. Una Mirada al Cáncer Infantil y Los Hispanos

    Cancer.gov

    El cáncer infantil es poco común—los niños con cáncer representan menos de 1% de todos los casos nuevos de cáncer en Estados Unidos. Pero, ¿sabía usted que el cáncer es la segunda causa principal de muerte (después de accidentes) en los niños de 1 a 14 años de edad? Se calculó que en 2012, en Estados Unidos, más de 12 000 niños (de recién nacidos¬ a 14 años de edad) serían diagnosticados con cáncer y más de 1300 niños morirían por esta enfermedad.

  6. Second Malignant Neoplasms Following Radiotherapy

    PubMed Central

    Kumar, Sanath

    2012-01-01

    More than half of all cancer patients receive radiotherapy as a part of their treatment. With the increasing number of long-term cancer survivors, there is a growing concern about the risk of radiation induced second malignant neoplasm [SMN]. This risk appears to be highest for survivors of childhood cancers. The exact mechanism and dose-response relationship for radiation induced malignancy is not well understood, however, there have been growing efforts to develop strategies for the prevention and mitigation of radiation induced cancers. This review article focuses on the incidence, etiology, and risk factors for SMN in various organs after radiotherapy. PMID:23249860

  7. Campomelic dysplasia and malignant hyperthermia

    PubMed Central

    Barros, Andreia; Teixeira, Filomena; Camacho, Maria Carmo; Alves, Cristina

    2011-01-01

    Campomelic dysplasia (CD) is a rare clinical entity, usually fatal in the first year of life. It is characterised by bowing and angulations of long bones, along with other congenital anomalies. The occurrence of malignant hyperthermia is rare, but it has been associated with skeletal dysplasias. The authors present the case of a boy, born at 40 weeks of gestational age, with multiple congenital anomalies and subsequently diagnosed with CD, who died at 16 months of age as a consequence of malignant hyperthermia. PMID:22691592

  8. Malignant hemangiopericytoma of pituitary fossa.

    PubMed

    Das, Prasenjit; Haresh, Kunhi P; Suri, Vaishali; Sharma, Mehar Chand; Sharma, Bhawani Shankar; Sarkar, Chitra

    2010-01-01

    Intracranial hemangiopericytomas are rare tumors with aggressive behavior. Other than the meninges, this lesion has rarely been reported in periventricular and sellar region. We report a case of malignant hemangiopericytoma in sellar region in a 47-year-old male who presented with history of sudden onset of bilateral visual disturbances. To best of our knowledge, this is the second case report of malignant hemangiopericytoma in this location. As this intracranial lesion shows aggressive behavior, in the form of recurrence or extracranial metastasis in comparison to its extracranial counterparts, diagnosis should be made cautiously. PMID:20090235

  9. [The advance of ?-blockers in the treatment of infantile hemangiomas].

    PubMed

    Lin, Ting-ting; He, Yan-jin

    2013-12-01

    Infantile hemangiomas (IH) is the most common benign tumour in early infancy.IH often grows under skins and subcutaneous tissues around head and neck, but it is not rare in ophthalmologic clinical work.IH in the eyelids, orbit and other organs, characterized by their very rapid growth, can cause severe complications, including ptosis and translocation of eyeball. Periocular IH might cause serious visual loss through induction of strabismic, deprivational or anisometropic astigmatism.Visceral organ involvement may become life-threatening. Patients need to be treated immediately in these scenarios. Conventional treatments for IH include the use of corticosteroids, sclerosing agents, interferon, vincristine, etc., which had some side effects and also not effective to all IH.Recently, many specialized clinics reported the impressive effect of ?-blockers, mainly propranolol, in the treatment of IH. Although IH is not among the approved indications for ?-blockers, propranolol is still recommended as the first line treatment for IH. They acted as vasoconstrictors, regulating angiogenic pathways and inducing apoptosis of vascular endothelial cells. This review covered the current understanding of the indications, mechanism of action, dose regimen, administration route, treatment duration, clinical response, and adverse effects of ?-blockers in the treatment of infantile hemangiomas. PMID:24499701

  10. Propranolol for Infantile Haemangiomas: Experience from a Tertiary Center

    PubMed Central

    Pandey, Vaibhav; Tiwari, Preeti; Gangopadhyay, Ajay N; Gupta, Dinesh K; Sharma, Shiv P; Kumar, Vijayendar

    2014-01-01

    Aim: Infantile haemangiomas are the most common tumor of infancy. We report the use of propranolol for treatment of problematic and complicated haemangiomas. Patients and Methods: Propranolol was given to 52 children with mean age of 18.2 months at onset of treatment. After clinical and electrocardiographic evaluations, propranolol was administered with a starting dose of 2 mg/kg per day, given in 3 divided doses. Monthly follow up was done, response to oral propranolol therapy and any complications of therapy were recorded. Response to propranolol was classified as Complete Response, Excellent Response, Partial Response and Non Responder. Results: Total 49 patients showed significant improvement after propranolol therapy out of which 4 patients were complete responder, 30 patients (56.7%) were excellent responders; 15 patients (28.8%) were partial responders. 3 patients (5.7%) had growth of haemangiomas despite propranolol therapy and were classified as non-responder. Side effect like hypotension, rashes, gastroesophageal reflux was reported by 3 patients. In our study mean duration of treatment was 6.5 months. At the end of treatment propranolol was stopped by with gradual tapering of dose over a period of 2 weeks. Conclusion: Propranolol administered orally at 2 mg/kg per day has rapid effective therapeutic effect in treatment of ulcerated haemangiomas and it appears to be a valuable and effective treatment option for infantile haemangiomas beyond the proliferative phase, and esthetically disfiguring haemangiomas. PMID:24761098

  11. Brain Malignancies Steering Committee Roster

    Cancer.gov

    Brain Malignancies Steering Committee Roster Co-chairs Ian Pollack, M.D., F.A.C.S., F.A.A.PChildren's Hospital of PittsburghPittsburgh, PA W.K. Alfred Yung, M.D.University of Texas - M.D. Anderson Cancer CenterHouston, TX Members Karla Ballman, Ph.D.Mayo

  12. Brain Malignancies Steering Committee Roster

    Cancer.gov

    Brain Malignancies Steering Committee Roster Co-chairs Ian Pollack, M.D., F.A.C.S., F.A.A.P Children's Hospital of Pittsburgh Pittsburgh, PA W.K. Alfred Yung, M.D. University of Texas - M.D. Anderson Cancer Center Houston, TX Members Karla Ballman, Ph.D. Mayo

  13. Malignant Hemangiopericytoma of the Pelvis

    Microsoft Academic Search

    K. Höbarth; J. Hofbauer; F. Wrba

    1991-01-01

    A case of a malignant hemangiopericytoma located in the pelvic fossa of a 50-year old man is reported. The tumor displaced the urinary bladder and caused bilateral hydronephrosis. Light microscopic diagnosis was followed by immunohistochemistry. After surgery the patient was successfully treated by chemotherapy and irradiation. This paper reviews clinicopathological features in respect of prognosis and a possible treatment.

  14. The Origin of Malignant Malaria

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Plasmodium falciparum is the causative agent of malignant malaria, which is among the most severe human infectious diseases. Despite its overwhelming significance to human health, the parasite’s origins remain unclear. The favored origin hypothesis holds that P. falciparum and its closest known rel...

  15. Novel biomarkers in malignant melanoma

    Microsoft Academic Search

    Anja K. Bosserhoff

    2006-01-01

    Cutaneous malignant melanoma remains the leading cause of skin cancer death in industrialized countries. Melanoma progression is well defined in its clinical and histopathological aspects (Breslow's index, tumour size, ulceration, or vascular invasion), which also give hints to prognosis of the patient. Use of molecular markers should therefore give additional information which cannot be determined by routine histopathology. Markers showing

  16. Malignant Hyperthermia Association of the United States

    MedlinePLUS

    ... Shop Official MHAUS Home Page What Is MH? Malignant hyperthermia (MH) is a potentially fatal, inherited disorder ... Donations Save Lives! January 7, 2015 Anesthesia Provider Malignant Hyperthermia Experiences Survey December 31, 2014 Fiscal Year ...

  17. Epigenetic deregulation in myeloid malignancies.

    PubMed

    Meldi, Kristen M; Figueroa, Maria E

    2015-01-01

    Abnormal epigenetic patterning commonly is observed in cancer, including the myeloid malignancies acute myeloid leukemia and myelodysplastic syndromes. However, despite the universal nature of epigenetic deregulation, specific subtypes of myeloid disorders are associated with distinct epigenetic profiles, which accurately reflect the biologic heterogeneity of these disorders. In addition, mutations and genetic alterations of epigenetic-modifying enzymes frequently have been reported in these myeloid malignancies, emphasizing the importance of epigenetic deregulation in the initiation, progression, and outcome of these disorders. These aberrant epigenetic modifiers have become new targets for drug design, because their inhibition can potentially reverse the altered epigenetic landscapes that contribute to the development of the leukemia. In this review, we provide an overview of the role of epigenetic deregulation in leukemic transformation and their potential for therapeutic targeting. PMID:24813528

  18. Malignant change in dermatitis artefacta.

    PubMed Central

    Alcolado, J. C.; Ray, K.; Baxter, M.; Edwards, C. W.; Dodson, P. M.

    1993-01-01

    Dermatitis artefacta is a chronic skin lesion produced by self-trauma. Avoidance of further trauma, topical steroids and psychological therapy all play a part in the treatment of such lesions. Unresolved lesions may become large and disfiguring and subject to infection. We report a case of one such lesion in an elderly woman who persistently excoriated a cholecystectomy scar over 40 years. Malignant transformation occurred in a manner analogous to the neoplastic change observed in other types of chronic ulcer (Marjolin's ulcer). The squamous cell carcinoma presented with widespread metastases from which the patient eventually died. Recent literature concerning Marjolin's ulcers is reviewed and it is noted that this is the first reported case of death caused by malignant change in dermatitis artefacta. Images Figure 1 PMID:8234114

  19. Tumor Metabolism of Malignant Gliomas

    PubMed Central

    Ru, Peng; Williams, Terence M.; Chakravarti, Arnab; Guo, Deliang

    2013-01-01

    Constitutively activated oncogenic signaling via genetic mutations such as in the EGFR/PI3K/Akt and Ras/RAF/MEK pathways has been recognized as a major driver for tumorigenesis in most cancers. Recent insights into tumor metabolism have further revealed that oncogenic signaling pathways directly promote metabolic reprogramming to upregulate biosynthesis of lipids, carbohydrates, protein, DNA and RNA, leading to enhanced growth of human tumors. Therefore, targeting cell metabolism has become a novel direction for drug development in oncology. In malignant gliomas, metabolism pathways of glucose, glutamine and lipid are significantly reprogrammed. Moreover, molecular mechanisms causing these metabolic changes are just starting to be unraveled. In this review, we will summarize recent studies revealing critical gene alterations that lead to metabolic changes in malignant gliomas, and also discuss promising therapeutic strategies via targeting the key players in metabolic regulation. PMID:24217114

  20. Adrenocorticotropic hormone versus prednisolone in the treatment of infantile spasms post vigabatrin failure.

    PubMed

    Jones, Kevin; Snead, O Carter; Boyd, Jennifer; Go, Cristina

    2015-04-01

    The Child Neurology Society/American Academy of Neurology practice parameter has recommended adrenocorticotropic hormone or vigabatrin in the short-term treatment of infantile spasms. When vigabatrin is unavailable or ineffective and adrenocorticotropic hormone is not a treatment option because of the prohibitive cost, other forms of corticosteroids have been considered in the treatment of infantile spasms. This retrospective study reviewed the Hospital for Sick Children's experience with the short-term effectiveness of prednisolone versus adrenocorticotropic hormone in patients with infantile spasms who have failed vigabatrin. The results showed that while adrenocorticotropic hormone was more likely to lead to short-term spasm freedom, there was no difference in the likelihood of longer-term spasm resolution without relapse. These findings can guide clinicians in the treatment of infantile spasms post vigabatrin failure. PMID:24965788

  1. Epidermodysplasia verruciformis and malignant thymoma.

    PubMed

    Jacyk, W K; Hazelhurst, J A; Dreyer, L; Coccia-Portugal, M A

    1993-01-01

    We describe a patient with a long history of skin lesions clinically and histologically consistent with epidermodysplasia verruciformis (EV) who developed malignant thymoma. HPV-9DNA was found in the macular lesion and HPV-4DNA and HPV-9DNA in the coexistent common warts. Thrombocytopenia and hypogammaglobulinaemia preceded the diagnosis of thymoma. Our patient seems to represent an example of an EV-like syndrome in immunodeficiency. PMID:8440067

  2. Molecular biology of malignant gliomas

    Microsoft Academic Search

    Cristóbal Belda-Iniesta; Javier de Castro Carpeño; Enrique Casado Sáenz; Paloma Cejas Guerrero; Rosario Perona; Manuel González Barón

    2006-01-01

    Gliomas are the most common primary brain tumours. In keeping with the degree of aggressiveness, gliomas are divided into\\u000a four grades, with different biological behaviour. Furthermore, as different gliomas share a predominant histological appearance,\\u000a the final classification includes both, histological features and degree of malignancy. For example, gliomas of astrocytic\\u000a origin (astrocytomas) are classified into pilocytic astrocytoma (grade I), astrocytoma

  3. Malignant glioma with angiocentric features.

    PubMed

    Lu, Jian-Qiang; Patel, Samir; Wilson, Beverly A; Pugh, Jeffrey; Mehta, Vivek

    2013-03-01

    Angiocentric glioma is a recently recognized benign brain tumor with unknown histogenesis. Most of these tumors are mitotically low in activity in accord with their benign clinical course. However, increased mitotic activity has been noted in several cases, one of which had an ultimately fatal outcome. Here, the authors present a tumor showing angiocentric glioma and glioblastoma-like features, with recurrence of the lower-grade component after radiotherapy. A 15-year-old boy presented with a 3-month history of progressive left-sided weakness and headache. Magnetic resonance imaging showed a large heterogeneous mass in the right frontal lobe, with mild post-Gd enhancement. A gross-total resection was obtained. Histopathological examination of the resected tissue revealed a tumor with 2 distinct appearances: 1) a mildly to moderately cellular infiltrating tumor with angiocentric glioma characteristics, and 2) a markedly cellular glioblastoma-like tissue with necrosis and microvascular proliferation. The patient received a course of postoperative radiotherapy to 59.4 Gy in 33 fractions administered over the course of 6.5 weeks, but his tumor recurred 4 months after resection. A second resection was then performed. The recurrent tumor exhibited radiation-induced changes and persistent characteristics of angiocentric glioma, but it had fewer malignant features; the mitotic activity was lower, and there was no necrosis or microvascular proliferation. The findings in this case, along with those in several previously reported cases, suggest that angiocentric gliomas may have a malignant variant or malignant transformation. Angiocentric gliomas with malignant features tend to recur, for which surgical intervention followed by radiotherapy and chemotherapy should be offered as a therapeutic option. PMID:23240849

  4. Malignant hyperthermia: A statistical review

    Microsoft Academic Search

    B. A. Britt; W. Kalow

    1970-01-01

    Summary  Information was collected on 89 patients who responded to general anaesthetics with malignant hyperthermia. The syndrome occurred\\u000a at the rate of about one in 14,000 anaesthetics among a hospital population of children. The patient mortality was 64 per\\u000a cent. The finding that males were somewhat more commonly affected than were females does not contradict previous observations\\u000a of dominant inheritance of

  5. [News on infantile hemangioma therapy by beta-blocker].

    PubMed

    Delmotte, Nicolas; Curti, Christophe; Montana, Marc; Crozet, Maxime; Vanelle, Patrice; Gensollen, Sophie

    2012-01-01

    Hemangiomas are benign tumors most commonly encountered in infancy and early childhood. While most of them regress spontaneously, some require treatment due to a significant proliferation, which may be complicated by ulceration, deformation aesthetic deformation or worse impairment vital. Among the treatments used corticosteroids is the standard treatment but its use in high doses expose to potential risks. In 2008, the discovery by "chance" of the effectiveness of propranolol in the management of hemangioma revolutionizes the first line treatment. Its mechanism of action is not yet well understood and establishment of such treatment should be done by a hospital paediatrician in the absence of any contraindications. This article proposes focus on effectiveness and tolerance of ?-blockers used as treatment of infantile hemangiomas. PMID:22874493

  6. Infantile-onset saccade initiation delay (congenital ocular motor apraxia).

    PubMed

    Salman, Michael S

    2015-05-01

    Infantile-onset saccade initiation delay, also known as congenital ocular motor apraxia, typically presents in early infancy with horizontal head thrusts once head control is achieved. Defective initiation of horizontal saccades and saccade hypometria with normal saccadic velocity are characteristic findings. Isolated impairment of vertical saccades is rare. Impaired smooth ocular pursuit may be seen. Other relatively common features include developmental delay, hypotonia, ataxia, or clumsiness. Brain MRI may be normal or show a diverse range of abnormalities, most commonly involving the cerebellum. Defective slow phases of the optokinetic response are commonly associated with brain MRI abnormalities. Isolated defect of vertical saccade initiation may indicate supratentorial brain abnormalities on MRI. Joubert syndrome, a developmental midbrain-hindbrain malformation, and ataxia telangiectasia are both commonly associated with defective volitional and reflexive saccade initiation, saccade hypometria, and head thrusts. Both horizontal and vertical saccades are impaired in these two disorders. PMID:25783597

  7. Infantile generalized pustular psoriasis: successful disease control with intermittent etretinate.

    PubMed

    Namba, Chika; Murakami, Masamoto; Hanakawa, Yasushi; Tohyama, Mikiko; Shirakata, Yuji; Tauchi, Hisamichi; Sayama, Koji

    2014-05-01

    Infantile generalized pustular psoriasis is a rare form of psoriasis and the best treatment is controversial. We experienced a 2-year-old female with erythema on her neck and axilla starting at 3 months of age. She presented with recurrent annular and geographic scaly erythema with a few pustules on the neck, precordium and axilla, but no fever. The histopathology revealed subcorneal neutrophilic infiltration and microabscesses without Kogoj's spongiform pustules. The initial diagnosis was subcorneal pustular dermatosis. However, she developed widespread geographic erythema and numerous pustules over her entire body with a fever when she got a cold. A second skin biopsy revealed monolocular pustules and Kogoj's spongiform pustules in the subcorneal layer. Etretinate was administrated after a diagnosis of pustular psoriasis was made and her condition improved gradually. The choice of treatment depends on patient age, general condition and the disease severity. PMID:24801915

  8. [The infantile sexual seduction: revolution and aftermath of Freud's theory].

    PubMed

    Figueroa, Gustavo C

    2014-01-01

    There is no question about the negative effects of child sexual abuse. Freud's seduction theory asserts that psychoneuroses in adults are caused by reactivation of forgotten recollections of gross sexual abuse (involving the genitals) that had taken place prior to the age of 8 to 10 years. His contribution consisted in the discovery of specific events, prior to puberty, which were indispensable to the formation of psychoneuroses. If an adult patient recalled an infantile sexual experience, Freud assumed the interference of a pervert: a child was sexually innocent unless it had been traumatized. But Freud's technique of clinical exploration had not attained adequate reliability and was not immune to prejudices. Freud himself dropped his mechanical, static theory that presupposed a single type of accidentally occurring trauma prior to puberty, allowing him to develop his new drive and fantasy theory. PMID:24861119

  9. Rare association of central pontine myelinolysis with infantile tremor syndrome

    PubMed Central

    Datta, Kalpana; Datta, Supratim; Dutta, Indranil

    2012-01-01

    Central pontine myelinolysis (CPM) is an acute demyelination within the central basis pontis. Though exact mechanism is not known it is seen commonly with rapid correction of hyponatremia and also with pontine ischemia or infarction, demyelinating diseases, pontine neoplasm and different metabolic diseases. We report a rare association of CPM in a patient of Infantile Tremor Syndrom (ITS). ITS is a syndrome of tremor, mental and physical retardation, pigmentary changes of hair and skin and anemia in malnourished children. Though first reported in Indian subcontinent many identical cases were reported from around the world. Our case is a 15 month old child with generalized tremor, mild hepatosplenomegaly with features of grade II malnutrition including skin and hair changes. All the signs and symtoms of tremor improved after treatment with the World Health Organization (WHO) protocol for protein energy malnutrition (PEM) and administration of propranolol without any side effects. PMID:22412274

  10. An anatomical commentary on the concept of infantile oral sadism.

    PubMed

    Freeman, R; Freeman, T

    1992-01-01

    Although this paper is entitled 'An anatomical commentary on the concept of infantile oral sadism' it is also an attempt to examine hypotheses regarding the sources of oral sadism. Freud did not explicitly refer to an oral sadistic phase of development in early infancy, believing as he did that sadism was a component instinct. Abraham postulated that oral sadism arises when the teeth erupt and the jaw muscles function. Melanie Klein, however, came to claim that oral sadistic impulses operate from birth and arise from the infant's innate potential for fantasy. This hypothesis is akin to Freud's theory of primal fantasies. The anatomical record supports Abraham's theory of the source of oral sadism. PMID:1512124

  11. Malignant degeneration in burn scars.

    PubMed

    CASTANARES, S

    1961-03-01

    The malignant potential of burn scars has been recognized since Marjolin's classical description of cancer arising in several types of post-traumatic scars. With improved burn therapy since the last war, there has been a higher survival rate of severe burns with proportionate increase in cancer associated with burn scars. This will create increasing problems of permanent disability and compensation. The younger the patient at the time of the burn, the longer the time required for the cancer to develop. Acute cancer development in burn scars has been reported after a four-week interval. Cancer may develop from six weeks to fifty years or more. The etiology of cancer in burn scars is not known. The most important clinical finding is the fact that most of the burn cancers occur in areas which were not grafted. The most common type of cancer encountered in burn scars is squamous cell carcinoma, which forms in Marjolin ulcers. Basal cell carcinoma may develop in the most superficial of burn scars.Treatment should be directed primarily to prompt and adequate skin grafting in all deep burns in order to prevent malignant degeneration of the burn scars. Once it has developed the treatment is the same as for other malignancies which are not associated with burns. Wide surgical excision with block dissection of the regional lymph nodes when they are involved is the treatment of choice. The prognosis of burn scar cancer is poor, once the process has extended because of early and distant metastasis. PMID:13691372

  12. Malignant cancer and invasive placentation

    PubMed Central

    D'Souza, Alaric W.; Wagner, Günter P.

    2014-01-01

    Cancer metastasis is an invasive process that involves the transplantation of cells into new environments. Since human placentation is also invasive, hypotheses about a relationship between invasive placentation in eutherian mammals and metastasis have been proposed. The relationship between metastatic cancer and invasive placentation is usually presented in terms of antagonistic pleiotropy. According to this hypothesis, evolution of invasive placentation also established the mechanisms for cancer metastasis. Here, in contrast, we argue that the secondary evolution of less invasive placentation in some mammalian lineages may have resulted in positive pleiotropic effects on cancer survival by lowering malignancy rates. These positive pleiotropic effects would manifest themselves as resistance to cancer cell invasion. To provide a preliminary test of this proposal, we re-analyze data from Priester and Mantel (Occurrence of tumors in domestic animals. Data from 12 United States and Canadian colleges of veterinary medicine. J Natl Cancer Inst 1971;47:1333-44) about malignancy rates in cows, horses, cats and dogs. From our analysis we found that equines and bovines, animals with less invasive placentation, have lower rates of metastatic cancer than felines and canines in skin and glandular epithelial cancers as well as connective tissue sarcomas. We conclude that a link between type of placentation and species-specific malignancy rates is more likely related to derived mechanisms that suppress invasion rather than different degrees of fetal placental aggressiveness. PMID:25324490

  13. Malignancies in inflammatory bowel disease.

    PubMed

    Nieminen, Urpo; Färkkilä, Martti

    2015-01-01

    Patients with inflammatory bowel diseases (IBDs) are at increased risk of colorectal cancer (CRC), but the risk varies between different studies and seems to be decreasing. The cumulative risk of CRC has been reported to be 1%, 2%, and 5% after 10, 20, and over 20 years of disease duration, respectively, in recent meta-analysis. Disease duration and grade of inflammation are the main driving forces of dysplasia and CRC development. Also, the risk of extraintestinal cancers is increased in IBD, where the degree of immunosuppression and its duration are the most important risk factors. Most important extraintestinal malignancies are lymphomas and non-melanoma skin cancers, both of which are increased in patients receiving thiopurines. Also, extraintestinal manifestations or concomitant diseases such as primary sclerosing cholangitis predispose IBD patients to malignancies such as cholangiocarcinoma. History of previous cancer increases the risk of developing either new or recurrent cancers and should be taken into account when choosing therapy and planning surveillance. Dysplasia and cancer screening and surveillance must be individualized according to patients' risk factors. Malignancies are the second most common cause of death after cardiovascular diseases in both genders in patients with IBD. PMID:25523559

  14. Infantile and adult-onset acid maltase deficiency occurring in the same family.

    PubMed

    Busch, H F; Koster, J F; van Weerden, T W

    1979-03-01

    A 16-week-old girl died from the infantile form of acid maltase deficiency (Pompe disease, acid alpha-glucosidase deficiency). Her paternal grandfather was well until the age of 53 years, when he started to suffer from the adult-onset form of the same enzyme deficiency. This observation suggests that the infantile and adult-onset forms of acid maltase deficiency are genetically related. PMID:377133

  15. Orbital Infantile Myofibroma: a Case Report and Clinicopathologic Review of 24 Cases from the Literature

    Microsoft Academic Search

    Corey J. Mynatt; Kenneth A. Feldman; Lester D. R. Thompson

    \\u000a Abstract  Isolated orbital infantile myofibroma are rare tumors in the head and neck. The mass-like clinical presentation and variable\\u000a histologic features result in frequent misdiagnosis and potentially inappropriate clinical management. There are only a few\\u000a reported cases in the English literature. Twenty-four patients with orbital infantile myofibroma or myofibromatosis were compiled\\u000a from the English literature (Medline 1960–2011) and integrated with this

  16. Infantile cholestatic jaundice associated with adult-onset type II citrullinemia

    Microsoft Academic Search

    Yusaku Tazawa; Keiko Kobayashi; Toshihiro Ohura; Daiki Abukawa; Fujihiko Nishinomiya; Yoshito Hosoda; Mariko Yamashita; Ikuo Nagata; Yumi Kono; Tomotsugu Yasuda; Naoki Yamaguchi; Takeyori Saheki

    2001-01-01

    Adult-onset type II citrullinemia, characterized by a liver-specific argininosuccinate synthetase deficiency, is caused by a deficiency of citrin that is encoded by the SLC25A13 gene. Three patients with infantile cholestatic jaundice were found to have mutations of the SLC25A13 gene. Adult-onset type II citrullinemia may be associated with infantile cholestatic disease. (J Pediatr 2001;138:735-40)

  17. Effectiveness of Mentha piperita in the Treatment of Infantile Colic: A Crossover Study

    PubMed Central

    Alves, João Guilherme Bezerra; de Brito, Rita de Cássia Coelho Moraes; Cavalcanti, Telma Samila

    2012-01-01

    Background. Infantile colic is a distressing and common condition for which there is no proven standard treatment. Objective. To compare the efficacy of Mentha piperita with simethicone in treatment for infantile colic. Methods. A double-blind crossover study was performed with 30 infants attending IMIP, Recife, Brazil. They were randomized to use Mentha piperita or simethicone in the treatment of infantile colic during 7 days with each drug. Primary outcomes were mother_s opinion about responses to the treatment, number of daily episodes of colic, and time spent crying, measured by a chronometer. Mann-Whitney and chi-square tests were used to compare the results. This study was previously approved by the Ethical Committee in Research at IMIP. Results. At baseline daily episodes of infantile colic was 3.9 (±1.1) and the mean crying time per day was 192 minutes (±51.6). At the end of the study daily episodes of colic fell to 1.6 (±0.6) and the crying duration decreased to 111 (±28) minutes. All mothers reported decrease of frequency and duration of the episodes of infantile colic and there were no differences between responses to Mentha piperita and simethicone. Conclusions. These findings suggest that Mentha piperita may be used to help control infantile colic. However, these results must be repeated by others studies. PMID:22844342

  18. MALIGNANT DEGENERATION IN BURN SCARS

    PubMed Central

    Castañares, Salvador

    1961-01-01

    The malignant potential of burn scars has been recognized since Marjolin's classical description of cancer arising in several types of post-traumatic scars. With improved burn therapy since the last war, there has been a higher survival rate of severe burns with proportionate increase in cancer associated with burn scars. This will create increasing problems of permanent disability and compensation. The younger the patient at the time of the burn, the longer the time required for the cancer to develop. Acute cancer development in burn scars has been reported after a four-week interval. Cancer may develop from six weeks to fifty years or more. The etiology of cancer in burn scars is not known. The most important clinical finding is the fact that most of the burn cancers occur in areas which were not grafted. The most common type of cancer encountered in burn scars is squamous cell carcinoma, which forms in Marjolin ulcers. Basal cell carcinoma may develop in the most superficial of burn scars. Treatment should be directed primarily to prompt and adequate skin grafting in all deep burns in order to prevent malignant degeneration of the burn scars. Once it has developed the treatment is the same as for other malignancies which are not associated with burns. Wide surgical excision with block dissection of the regional lymph nodes when they are involved is the treatment of choice. The prognosis of burn scar cancer is poor, once the process has extended because of early and distant metastasis. ImagesFigure 1.Figure 2.Figure 2.Figure 3.Figure 3.Figure 4. PMID:13691372

  19. Recurrent malignant glioma in adults.

    PubMed

    Tatter, Stephen B

    2002-12-01

    Meaningful palliation is possible for selected patients with recurrent malignant glioma (glioblastoma multiforme, anaplastic astrocytoma, anaplastic oligodendroglioma, or anaplastic mixed oligoastrocytoma) using aggressive treatment. Although long-term disease-free survival occurs in fewer than 10% of patients, most who achieve such survival have been treated for multiple recurrences. Surgical resection with the placement of lomustine-releasing wafers is the only therapy proven in randomized trials to be beneficial for recurrent malignant gliomas. Reoperation is indicated when local mass effect limits the quality of life. Reoperation may make other treatments more effective by removing treatment-resistant hypoxic cells and thereby prolonging high-quality survival. Combination chemotherapy (including procarbazine and a nitrosourea) provides dramatic benefit for many recurrent anaplastic or aggressively behaving oligodendrogliomas and anaplastic mixed oligoastrocytomas. For other recurrent malignant gliomas, single-agent cytotoxic chemotherapy (eg, intravenous lomustine or platinums, oral carmustine, temozolomide, or procarbazine) appears to provide equivalent results and better quality of life at a lower cost than do the combinations of cytotoxic drugs. A randomized phase II trial demonstrates that temozolomide provides longer progression-free survival and better quality of life than standard-dose procarbazine in patients with recurrent glioblastoma multiforme. Because benefits of available cytotoxic chemotherapy for anaplastic astrocytoma and glioblastoma are small, participation in clinical trials is appropriate for most patients. Reirradiation (using stereotactic or three-dimensional conformal techniques with or without concomitant cytotoxic chemotherapy) as radiation sensitization can prolong high-quality survival in selected patients. Specific examples include radiosurgery with the gamma knife or with linear accelerators, intracavitary radiation with the newly US Food and Drug Administration-approved GliaSite (Proxima Therapeutics, Alpharetta, GA) radiation therapy system, low dose rate permanent-seed brachytherapy, and high dose rate stereotactic brachytherapy. Dexamethasone (used for the shortest time in the lowest effective doses) can provide symptomatic benefits. Osmotic diuretics such as mannitol reduce cytotoxic edema more rapidly. PMID:12392640

  20. Primary Pulmonary Malignant Fibrous Histiocytoma

    PubMed Central

    Patel, Devin P.; Gandhi, Yogesh S.; Sommers, Keith E.; Mangar, Devanand; Camporesi, Enrico M.

    2015-01-01

    Malignant fibrous histiocytoma (MFH) is one of the most common adult soft tissue sarcomas. MFH is very aggressive and is most often found in the extremities and the retroperitoneum, but it can manifest at other sites. Though the lungs are the most common sites of metastasis, they rarely present there as a primary tumor. Our report describes a rare case of a primary MFH tumor in the lung. Careful diagnostic procedure should be followed to ensure the tumor does not have extrapulmonary origins. Though MFH is highly invasive and deadly, surgical excision of the tumor has been shown to be successful.

  1. Response criteria for malignant lymphoma.

    PubMed

    Maffione, Anna M; Paolini, Rossella; Rodella, Elisabetta; Ambrosio, Cristina; Rampin, Lucia; Lisato, Laura C; Ballotta, Maria; Pavanato, Giovanni; Rubello, Domenico

    2015-04-01

    In the last 35 years, many attempts have been made to define criteria for the assessment of treatment response in malignant lymphoma. These systems, with respect to both morphological and molecular imaging, aim to standardize scan results, in order to simplify the interpretation of findings, facilitate multicentric research trials, and compare published data. Unfortunately, there is no consensus among the main international hematological associations on which criteria are the most appropriate. This detailed and comprehensive description of all classifications intends to focus attention on this topic. PMID:25603273

  2. Leuloplakia - Review of A Potentially Malignant Disorder

    PubMed Central

    Abidullah, Mohammed; Gaddikeri, Kavitha; Raghoji, Swetha; Ravishankar T, Shilpa

    2014-01-01

    Leukoplakias are oral white lesions that have not been diagnosed as any other specific disease. They are grouped under premalignant lesions, now redesignated as potentially malignant disorders. Their significance lies in the fact that they have propensity for malignant transformation at a higher rate when compared to other oral lesions. This article reviews aetiology, epidemiology, clinical characteristics, histopathologic features, malignant potential and treatment of oral leukoplakia. PMID:25302287

  3. Musculoskeletal manifestations in patients with malignant disease

    Microsoft Academic Search

    Tamer A. Gheita; Yasser Ezzat; Safaa Sayed; Ghada El-Mardenly; Waleed Hammam

    2010-01-01

    To detect and describe the incidence of musculoskeletal manifestations in different malignant diseases as well as their relation\\u000a to the treatment received whether by chemotherapy or radiation therapy. Sixty patients with different malignant diseases were\\u000a included in this study, 45 with solid tumors and 15 patients with hematological malignancy. The mean age was 46.55?±?11.04 years\\u000a and the mean disease duration was

  4. Chemotherapy of advanced malignant teratomas.

    PubMed Central

    Newlands, E. S.; Begent, R. H.; Kaye, S. B.; Rustin, G. J.; Bagshawe, K. D.

    1980-01-01

    Between 1977 and November 1979 we have treated 53 patients with malignant teratomas (43 males, 10 females). Thirty (70%) out of the 43 male patients had advanced and bulky disease at the time of presentation. Using different drug combinations in a sequential manner as described below, results are as follows: of the initial 33 male patients, 22 (67%) have discontinued treatment (mean 9.5 months). Nineteen have responded completely and 3 have static computed tomography (CT) nodules. Life-table analysis projects a survival of 66% (analysis at 1 December 1979). Nine out of 10 ovarian teratoma patients are alive. Adverse prognostic factors at the start of treatment were recognized in 9/10 male patients and the 1 female patient who have died. Although the survival of patients with malignant teratomas has improved dramatically, there are still problems with drug resistance in patients with very advanced disease. Patients with these tumours should continue to be treated in centres specializing in managing what has now become a potentially curable disease in most cases. PMID:7426343

  5. Imaging probe for tumor malignancy

    NASA Astrophysics Data System (ADS)

    Tanaka, Shotaro; Kizaka-Kondoh, Shinae; Hiraoka, Hasahiro

    2009-02-01

    Solid tumors possess unique microenvironments that are exposed to chronic hypoxic conditions ("tumor hypoxia"). Although more than half a century has passed since it was suggested that tumor hypoxia correlated with poor treatment outcomes and contributed to cancer recurrence, a fundamental solution to this problem has yet to be found. Hypoxia-inducible factor (HIF-1) is the main transcription factor that regulates the cellular response to hypoxia. It induces various genes whose functions are strongly associated with malignant alteration of the entire tumor. The cellular changes induced by HIF-1 are extremely important targets of cancer therapy, particularly in therapy against refractory cancers. Imaging of the HIF-1-active microenvironment is therefore important for cancer therapy. To image HIF-1activity in vivo, we developed a PTD-ODD fusion protein, POHA, which was uniquely labeled with near-infrared fluorescent dye at the C-terminal. POHA has two functional domains: protein transduction domain (PTD) and VHL-mediated protein destruction motif in oxygen-dependent degradation (ODD) domain of the alpha subunit of HIF-1 (HIF-1?). It can therefore be delivered to the entire body and remain stabilized in the HIF-1-active cells. When it was intravenously injected into tumor-bearing mice, a tumor-specific fluorescence signal was detected in the tumor 6 h after the injection. These results suggest that POHA can be used an imaging probe for tumor malignancy.

  6. Endemic characteristics of infantile visceral leishmaniasis in the People’s Republic of China

    PubMed Central

    2013-01-01

    Background Visceral leishmaniasis (VL) was once a severe parasitic disease in China. Thanks to the great efforts of integrated control, VL was eliminated in most epidemic areas, except for certain western provinces (autonomous region) at the end of 1950s. From then on, VL gained less attention and has seemed to spread, especially in the last 15?years. Infants are the most important population threatened by VL. However, there have been few studies on the endemic characteristics of infantile VL in China. Methods Infantile VL cases were collected from the online National Infectious Diseases Reporting System (NIDRS). Statistical description and inference was used to reveal the endemic characteristics in gender, age group, time and regionalism. Spatial analysis was carried out to explore the high risk area for infantile VL in China. Results A total of 1093 infantile VL cases were reported from 2006 to 2012. There was no statistically significant difference in gender over time. The minimum, maximum and mean age of these cases was 1.1, 35.9 and 13.8?months, respectively. Among them 86.92% were under 2?years of age, and there was a statistically significant difference among age groups over time. An incidence peak appeared in 2008-2009, most cases were distributed in the months September to December, and there was a tail-raising effect in the coming two months of the next year. More than 98% of cases were reported in Xinjiang Uygur Autonomous Region, Gansu Province and Sichuan Province, accounting for 61.02%, 32.75% and 4.57%, respectively. A total of 56 counties reported infantile VL cases, with the cumulative incidence ranging from 0.02 to 24.57%. There were two main zones of high endemicity for infantile VL in China. The monthly incidence clearly coincides with the number of towns where infantile VL cases were reported. Three fatalities were reported during the study period, the case fatality rate was 2.75‰. Conclusions The endemic situation of infantile VL is serious, and there are several active foci of infantile VL prevalence in China. VL has emerged as a severe threat to infants of endemic regions in China. PMID:23680411

  7. TERATOMA WITH MALIGNANT TRANSFORMATION: DIVERSE MALIGNANT HISTOLOGIES ARISING IN MEN WITH GERM CELL TUMORS

    Microsoft Academic Search

    Robert J. Motzer; Alison Amsterdam; Victor Prieto; Joel Sheinfeld; V. V. V. S. Murty; Madhu Mazumdar; George J. Bosl; R. S. K. Chaganti; Victor E. Reuter

    1998-01-01

    PurposeTeratoma with malignant transformation refers to a form of germ cell tumor in which a somatic teratomatous component becomes morphologically malignant and develops aggressive growth. We evaluated the spectrum of histologies, chromosomal abnormalities and clinical outcome in patients with teratoma with malignant transformation.

  8. Oculomotor Neurocircuitry, a Structural Connectivity Study of Infantile Nystagmus Syndrome

    PubMed Central

    Kashou, Nasser H.; Zampini, Angelica R.

    2015-01-01

    Infantile Nystagmus Syndrome (INS) is one of the leading causes of significant vision loss in children and affects about 1 in 1000 to 6000 births. In the present study, we are the first to investigate the structural pathways of patients and controls using diffusion tensor imaging (DTI). Specifically, three female INS patients from the same family were scanned, two sisters and a mother. Six regions of interest (ROIs) were created manually to analyze the number of tracks. Additionally, three ROI masks were analyzed using TBSS (Tract-Based Spatial Statistics). The number of fiber tracks was reduced in INS subjects, compared to normal subjects, by 15.9%, 13.9%, 9.2%, 18.6%, 5.3%, and 2.5% for the pons, cerebellum (right and left), brainstem, cerebrum, and thalamus. Furthermore, TBSS results indicated that the fractional anisotropy (FA) values for the patients were lower in the superior ventral aspects of the pons of the brainstem than in those of the controls. We have identified some brain regions that may be actively involved in INS. These novel findings would be beneficial to the neuroimaging clinical and research community as they will give them new direction in further pursuing neurological studies related to oculomotor function and provide a rational approach to studying INS. PMID:25860806

  9. Signaling pathways in the development of infantile hemangioma

    PubMed Central

    2014-01-01

    Infantile hemangioma (IH), which is the most common tumor in infants, is a benign vascular neoplasm resulting from the abnormal proliferation of endothelial cells and pericytes. For nearly a century, researchers have noted that IH exhibits diverse and often dramatic clinical behaviors. On the one hand, most lesions pose no threat or potential for complication and resolve spontaneously without concern in most children with IH. On the other hand, approximately 10% of IHs are destructive, disfiguring and even vision- or life-threatening. Recent studies have provided some insight into the pathogenesis of these vascular tumors, leading to a better understanding of the biological features of IH and, in particular, indicating that during hemangioma neovascularization, two main pathogenic mechanisms prevail, angiogenesis and vasculogenesis. Both mechanisms have been linked to alterations in several important cellular signaling pathways. These pathways are of interest from a therapeutic perspective because targeting them may help to reverse, delay or prevent hemangioma neovascularization. In this review, we explore some of the major pathways implicated in IH, including the VEGF/VEGFR, Notch, ?-adrenergic, Tie2/angiopoietins, PI3K/AKT/mTOR, HIF-?-mediated and PDGF/PDGF-R-? pathways. We focus on the role of these pathways in the pathogenesis of IH, how they are altered and the consequences of these abnormalities. In addition, we review the latest preclinical and clinical data on the rationally designed targeted agents that are now being directed against some of these pathways. PMID:24479731

  10. Infantile hemangiomas exhibit neural crest and pericyte markers.

    PubMed

    Spock, Christopher L; Tom, Laura K; Canadas, Karina; Sue, Gloria R; Sawh-Martinez, Rajendra; Maier, Cheryl L; Pober, Jordan S; Galan, Anjela; Schultz, Brent; Waner, Milton; Narayan, Deepak

    2015-02-01

    Infantile hemangiomas (IHs) are the most common benign tumors of infancy and occur with greater than 60% prevalence on the head and neck. Despite their prevalence, little is known about the pathogenesis of this disease. Given the predilection of hemangioma incidence on the face and its nonrandom distribution on embryological fusion plates, we postulated that IHs are derived from pericytes of the neural crest. We performed an analysis on 15 specimens at various stages of the IH progression. Experiments performed included immunohistochemical staining, immunofluorescent staining, quantitative real-time polymerase chain reaction, and flow cytometry. We analyzed a number of cell markers using these methods, including cell markers for the neural crest, pericytes, endothelial cells, stem cells, and the placenta. We observed that neural crest markers such as NG2 and nestin were expressed in the hemangioma samples, in addition tomultiple pericytes markers including ?-like kinase, smooth muscle actin, calponin, and CD90. Stem cell markers such as c-myc, oct4, nanog, and sox2 were also more highly expressed in hemangioma samples compared to controls. Our work demonstrates that hemangiomas express pericyte, neural crest, and stem cell markers suggesting a possible pathogenetic mechanism. PMID:24401806

  11. Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.

    PubMed

    Failler, Marion; Gee, Heon Yung; Krug, Pauline; Joo, Kwangsic; Halbritter, Jan; Belkacem, Lilya; Filhol, Emilie; Porath, Jonathan D; Braun, Daniela A; Schueler, Markus; Frigo, Amandine; Alibeu, Olivier; Masson, Cécile; Brochard, Karine; Hurault de Ligny, Bruno; Novo, Robert; Pietrement, Christine; Kayserili, Hulya; Salomon, Rémi; Gubler, Marie-Claire; Otto, Edgar A; Antignac, Corinne; Kim, Joon; Benmerah, Alexandre; Hildebrandt, Friedhelm; Saunier, Sophie

    2014-06-01

    Ciliopathies are a group of hereditary disorders associated with defects in cilia structure and function. The distal appendages (DAPs) of centrioles are involved in the docking and anchoring of the mother centriole to the cellular membrane during ciliogenesis. The molecular composition of DAPs was recently elucidated and mutations in two genes encoding DAPs components (CEP164/NPHP15, SCLT1) have been associated with human ciliopathies, namely nephronophthisis and orofaciodigital syndrome. To identify additional DAP components defective in ciliopathies, we independently performed targeted exon sequencing of 1,221 genes associated with cilia and 5 known DAP protein-encoding genes in 1,255 individuals with a nephronophthisis-related ciliopathy. We thereby detected biallelic mutations in a key component of DAP-encoding gene, CEP83, in seven families. All affected individuals had early-onset nephronophthisis and four out of eight displayed learning disability and/or hydrocephalus. Fibroblasts and tubular renal cells from affected individuals showed an altered DAP composition and ciliary defects. In summary, we have identified mutations in CEP83, another DAP-component-encoding gene, as a cause of infantile nephronophthisis associated with central nervous system abnormalities in half of the individuals. PMID:24882706

  12. Signaling pathways in the development of infantile hemangioma.

    PubMed

    Ji, Yi; Chen, Siyuan; Li, Kai; Li, Li; Xu, Chang; Xiang, Bo

    2014-01-01

    Infantile hemangioma (IH), which is the most common tumor in infants, is a benign vascular neoplasm resulting from the abnormal proliferation of endothelial cells and pericytes. For nearly a century, researchers have noted that IH exhibits diverse and often dramatic clinical behaviors. On the one hand, most lesions pose no threat or potential for complication and resolve spontaneously without concern in most children with IH. On the other hand, approximately 10% of IHs are destructive, disfiguring and even vision- or life-threatening. Recent studies have provided some insight into the pathogenesis of these vascular tumors, leading to a better understanding of the biological features of IH and, in particular, indicating that during hemangioma neovascularization, two main pathogenic mechanisms prevail, angiogenesis and vasculogenesis. Both mechanisms have been linked to alterations in several important cellular signaling pathways. These pathways are of interest from a therapeutic perspective because targeting them may help to reverse, delay or prevent hemangioma neovascularization. In this review, we explore some of the major pathways implicated in IH, including the VEGF/VEGFR, Notch, ?-adrenergic, Tie2/angiopoietins, PI3K/AKT/mTOR, HIF-?-mediated and PDGF/PDGF-R-? pathways. We focus on the role of these pathways in the pathogenesis of IH, how they are altered and the consequences of these abnormalities. In addition, we review the latest preclinical and clinical data on the rationally designed targeted agents that are now being directed against some of these pathways. PMID:24479731

  13. Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability

    PubMed Central

    Failler, Marion; Gee, Heon Yung; Krug, Pauline; Joo, Kwangsic; Halbritter, Jan; Belkacem, Lilya; Filhol, Emilie; Porath, Jonathan D.; Braun, Daniela A.; Schueler, Markus; Frigo, Amandine; Alibeu, Olivier; Masson, Cécile; Brochard, Karine; Hurault de Ligny, Bruno; Novo, Robert; Pietrement, Christine; Kayserili, Hulya; Salomon, Rémi; Gubler, Marie-Claire; Otto, Edgar A.; Antignac, Corinne; Kim, Joon; Benmerah, Alexandre; Hildebrandt, Friedhelm; Saunier, Sophie

    2014-01-01

    Ciliopathies are a group of hereditary disorders associated with defects in cilia structure and function. The distal appendages (DAPs) of centrioles are involved in the docking and anchoring of the mother centriole to the cellular membrane during ciliogenesis. The molecular composition of DAPs was recently elucidated and mutations in two genes encoding DAPs components (CEP164/NPHP15, SCLT1) have been associated with human ciliopathies, namely nephronophthisis and orofaciodigital syndrome. To identify additional DAP components defective in ciliopathies, we independently performed targeted exon sequencing of 1,221 genes associated with cilia and 5 known DAP protein-encoding genes in 1,255 individuals with a nephronophthisis-related ciliopathy. We thereby detected biallelic mutations in a key component of DAP-encoding gene, CEP83, in seven families. All affected individuals had early-onset nephronophthisis and four out of eight displayed learning disability and/or hydrocephalus. Fibroblasts and tubular renal cells from affected individuals showed an altered DAP composition and ciliary defects. In summary, we have identified mutations in CEP83, another DAP-component-encoding gene, as a cause of infantile nephronophthisis associated with central nervous system abnormalities in half of the individuals. PMID:24882706

  14. Endoscopic goniotomy: a potential surgical procedure for primary infantile glaucoma

    NASA Astrophysics Data System (ADS)

    Joos, Karen M.; Alward, Wallace L. M.; Folberg, Robert

    1993-06-01

    Goniotomy is an effective treatment for primary infantile glaucoma. Unlike trabeculotomy, goniotomy facilitates the visualization of the trabecular meshwork and does not disturb the conjunctiva. Because a cloudy cornea may prevent a clear view of the anterior chamber angle through the operating microscope, we investigated whether an endoscope would improve visualization during goniotomy in pig cadaver eyes. We deepened the anterior chamber of each pig eye with viscoelastic material. A modified 23-gauge needle attached to an Olympus 0.8 mm diameter flexible fiberoptic endoscope entered the anterior chamber through a 3 mm limbal incision. The angle was clearly seen on a videoscreen as the needle approached and incised the trabecular pillars for 120 degree(s); the iris immediately fell back. Following the procedure, the eyes were fixed in formalin and sectioned for light microscopy, or fixed in 2% glutaraldehyde for scanning electron microscopy. Trabecular pillars were present from the iris root to Schwalbe's line in the untreated region of the anterior chamber angle. The treated area demonstrated incision of the trabecular pillars with opening of the underlying trabecular meshwork.

  15. Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis

    PubMed Central

    Martignetti, John A.; Tian, Lifeng; Li, Dong; Ramirez, Maria Celeste M.; Camacho-Vanegas, Olga; Camacho, Sandra Catalina; Guo, Yiran; Zand, Dina J.; Bernstein, Audrey M.; Masur, Sandra K.; Kim, Cecilia E.; Otieno, Frederick G.; Hou, Cuiping; Abdel-Magid, Nada; Tweddale, Ben; Metry, Denise; Fournet, Jean-Christophe; Papp, Eniko; McPherson, Elizabeth W.; Zabel, Carrie; Vaksmann, Guy; Morisot, Cyril; Keating, Brendan; Sleiman, Patrick M.; Cleveland, Jeffrey A.; Everman, David B.; Zackai, Elaine; Hakonarson, Hakon

    2013-01-01

    Infantile myofibromatosis (IM) is a disorder of mesenchymal proliferation characterized by the development of nonmetastasizing tumors in the skin, muscle, bone, and viscera. Occurrence within families across multiple generations is suggestive of an autosomal-dominant (AD) inheritance pattern, but autosomal-recessive (AR) modes of inheritance have also been proposed. We performed whole-exome sequencing (WES) in members of nine unrelated families clinically diagnosed with AD IM to identify the genetic origin of the disorder. In eight of the families, we identified one of two disease-causing mutations, c.1978C>A (p.Pro660Thr) and c.1681C>T (p.Arg561Cys), in PDGFRB. Intriguingly, one family did not have either of these PDGFRB mutations but all affected individuals had a c.4556T>C (p.Leu1519Pro) mutation in NOTCH3. Our studies suggest that mutations in PDGFRB are a cause of IM and highlight NOTCH3 as a candidate gene. Further studies of the crosstalk between PDGFRB and NOTCH pathways may offer new opportunities to identify mutations in other genes that result in IM and is a necessary first step toward understanding the mechanisms of both tumor growth and regression and its targeted treatment. PMID:23731542

  16. Oropharyngeal dysphagia in infants and children with infantile Pompe disease.

    PubMed

    Jones, Harrison N; Muller, Carolyn W; Lin, Min; Banugaria, Suhrad G; Case, Laura E; Li, Jennifer S; O'Grady, Gwendolyn; Heller, James H; Kishnani, Priya S

    2010-12-01

    Pompe disease is a rare genetic progressive neuromuscular disorder. The most severe form, infantile Pompe disease, has historically resulted in early mortality, most commonly due to cardiorespiratory failure. Treatment with enzyme replacement therapy (ERT) using alglucosidase alfa (Myozyme(®)) has extended the lifespan of individuals with this disease. With the introduction of ERT and the resultant improved survival, dysphagia is being encountered clinically with increasing regularity though systematic data remain unavailable. We retrospectively studied the oropharyngeal swallowing of 13 infants and children with Pompe disease using videofluoroscopy before initiation of ERT, allowing for baseline swallow function to be established in an untreated cohort. Dysphagia was present in all 13 subjects, even in a participant only 15 days old. Oral stage signs were present in 77%, most frequently a weak suck in 69%. Pharyngeal stage signs were present in 100%, including a pharyngeal swallow delay in 92% and pharyngeal residue in 77%. Airway invasion was present in 76.9% of subjects, including penetration in five (38.46%) and silent aspiration in an additional five (38.46%). No relationship in the relative involvement of swallowing, gross motor function, and cardiac disease appeared to be present. PMID:19763689

  17. New optional photodynamic therapy laser wavelength for infantile port wine stains: 457 nm

    NASA Astrophysics Data System (ADS)

    Wang, Ying; Zuo, Zhaohui; Gu, Ying; Huang, Naiyan; Chen, Rong; Li, Buhong; Qiu, Haixia; Zeng, Jing; Zhu, Jianguo; Liang, Jie

    2012-06-01

    To expand the optional laser wavelengths of photodynamic therapy (PDT) for port wine stain (PWS), the feasibility of applying a 457 nm laser to the PDT for infantile PWS was analyzed by mathematical simulation and was validated by clinical experiment. Singlet oxygen yield of 457 nm PDT or 532 nm PDT in an infantile PWS model and an adult PWS model was theoretically simulated. Fifteen PWS patients (14 infants and 1 adult) with 40 spots were treated with 457 nm (20 spots) and 532 nm (20 spots), respectively, in two PDT courses. Simulation results showed that under the same power density and irradiation time, singlet oxygen yield of 457 nm PDT and 532 nm PDT are similar in infantile PWS vessels. Yet, in adult PWS vessels, singlet oxygen yield of 457 nm PDT is lower than 532 nm PDT. Clinical outcomes showed that no statistic difference existed between 457 nm PDT and 532 nm PDT for infantile PWS. The result of this study suggested that 457 nm wavelength laser has the potential to be applied in PDT for infantile PWS.

  18. Early infantile onset ''congenital'' Rett syndrome variants: Swedish experience through four decades and mutation analysis.

    PubMed

    Rajaei, Saideh; Erlandson, Anna; Kyllerman, Marten; Albage, Margareta; Lundstrom, Isa; Karrstedt, Ewa-Lotta; Hagberg, Bengt

    2011-01-01

    The early infantile onset ''congenital'' variant of Rett syndrome presents with deviations of behavior from very early infancy. Here, we report on a clinical-genetic study in a collected series of 14 Swedish girls with early infantile onset Rett syndrome phenotype. The clinical diagnosis was based on symptom onset before the age of 6 months and the patients fulfilled 3 or more Rett variant criteria and 5 or more supportive criteria. Genotype-phenotype correlation studies in the CDKL5-gene have recently shown clinical associations to early infantile onset Rett variants. Mutation analyses for both the MECP2-gene and the CDKL5-gene were, therefore, performed. Of interest, we found a large deletion covering 2 exons in MECP2, which underlines the importance of MECP2 mutation screening even for the ''atypical'' early infantile onset variants of Rett syndrome. No early infantile onset Rett syndrome patients in this study had the previously well-known hotspot mutations in the MECP2-gene. PMID:21212452

  19. [Malignant hyperthermia syndrome: case report].

    PubMed

    Taffarel, Pedro; Koffman, Fernando; Zifferman, Andrea; Degiuseppe, Sebastian; Mansilla, Alejandro; Darduin, Marcelo; Acerenza, Marcelo

    2015-04-01

    Malignant hyperthermia syndrome is a family myopathy of pharmacogenetic nature, which appears as a skeletal muscle hypercatabolic syndrome linked to anesthesia. The incidence in pediatrics is 1 event per 10 000 surgeries. The clinical picture may have a rapid onset associated with succinylcholine, or a late onset related to inhalation agents. The clinical picture includes tachycardia, hyperthermia, hypercapnia, acidosis, muscle rigidity, hyperkalemia, renal failure and arrhythmia. Mortality without specific treatment is of 80% and drops to 7% with the use of dantrolene sodium. We report an 8-year-old patient admitted for phimosis surgery; having tachycardia, hypercapnia and muscle rigidity, he started treatment with dantrolene sodium in the operating room, which was maintained for 72 hours. He evolved the first 12 hours with low cardiac output and creatine phosphokinase maximum of 155 147 U/L. He remained with mechanical ventilation for 48 hours. Discharge was given on the sixth day without sequelae. PMID:25727836

  20. [Robotic surgery for gastroenterological malignancies].

    PubMed

    Satoh, Seiji; Suda, Koichi; Kawamura, Yuichiro; Yoshimura, Fumihiro; Taniguchi, Keizo; Uyama, Ichiro

    2012-07-01

    In Japan, the usefulness of robot-assisted surgery using da Vinci surgical system(DVSS)has rapidly become widely acknowledged. At Fujita Health University, DVSS was introduced in 2009. Thus far, 347 patients were treated by DVSS at our institute, including 204 gastroenterological operations. In our department, robot-assisted gastrectomy(RAG, n=111)and robot-assisted esophagectomy(REG, n=26)have been technically standardized. Recently, we reported that both RAG and REG are minimally invasive. Moreover, we showed that the incidence of recurrent nerve palsy by lymphadenectomy was significantly reduced by REG, compared with conventional thoracoscopic esophagectomy. Although robot-assisted surgery is a highly expensive treatment, these results prompt the need for further evaluation of the effectiveness of robot-assisted surgery in the gastroenterological field. Development of a more accurate and less invasive robotic surgery system would contribute to a better quality of life patients with gastroenterological malignancies. PMID:22790036

  1. Thigmotropism of Malignant Melanoma Cells

    PubMed Central

    Quatresooz, Pascale; Piérard-Franchimont, Claudine; Noël, Fanchon; Piérard, Gérald E.

    2012-01-01

    During malignant melanoma (MM) progression including incipient metastasis, neoplastic cells follow some specific migration paths inside the skin. In particular, they progress along the dermoepidermal basement membrane, the hair follicles, the sweat gland apparatus, nerves, and the near perivascular space. These features evoke the thigmotropism phenomenon defined as a contact-sensing growth of cells. This process is likely connected to modulation in cell tensegrity (control of the cell shape). These specifically located paucicellular aggregates of MM cells do not appear to be involved in the tumorigenic growth phase, but rather they participate in the so-called “accretive” growth model. These MM cell collections are often part of the primary neoplasm, but they may, however, correspond to MM micrometastases and predict further local overt metastasis spread. PMID:22203839

  2. Malignant Mesothelioma: Development to Therapy

    PubMed Central

    Thompson, Joyce; Westbom, Catherine; Shukla, Arti

    2013-01-01

    Malignant mesothelioma (MM) is an aggressive cancer of the mesothelium caused by asbestos. Asbestos use has been reduced but not completely stopped. In addition, natural or man-made disasters will continue to dislodge asbestos from old buildings into the atmosphere and as long as respirable asbestos is available, MM will continue to be a threat. Due to the long latency period of MM development, it would still take decades to eradicate this disease if asbestos was completely removed from our lives today. Therefore, there is a need for researchers and clinicians to work together to understand this deadly disease and find a solution for early diagnosis and treatment. This article focuses on developmental mechanisms as well as current therapies available for MM. PMID:23959774

  3. Primary malignant melanoma of maxillary gingiva.

    PubMed

    Thakur, Sudhir Kumar; Jha, Somen; Singh, Sarabjeet; Yadav, Anubha

    2014-06-01

    Malignant melanoma of maxillary gingiva is a rare clinical entity. Mucosal melanoma is more aggressive than cutaneous form and carries comparatively poorer prognosis. High index of suspicion is required for diagnosing malignant melanoma of oral cavity. Any pigmented lesion in the oral cavity should be taken seriously by the clinician. PMID:25177127

  4. [Phrenic nerve malignant schwannoma: an exceptional diagnosis].

    PubMed

    Saint-Blancard, P; Natali, F; Jancovici, R; Jeanbourquin, D; Pons, F; Dufau, J P; Le Vagueresse, R

    1998-05-01

    We report a case of malignant schwannoma of left phrenic nerve in a 65-year-old man. This uncommon diagnosis was suggested by radiological features and confirmed by histological findings on a needle biopsy and surgery specimens. We discuss management, follow-up and prognosis of malignant schwannomas. PMID:9769993

  5. Immune checkpoint blockade in malignant mesothelioma

    PubMed Central

    Calabrò, Luana; Maio, Michele

    2014-01-01

    Monoclonal antibodies that target immune checkpoints are undoubtedly changing the therapeutic landscape of different human malignancies. Here we comment on the effects of blocking cytotoxic T lymphocyte-associated protein 4 (CTLA4) by means of the monoclonal antibody tremelimumab in patients with refractory malignant mesothelioma, a deadly disease with no effective therapeutic options. PMID:24734215

  6. Malignant mesothelioma of tunica vaginalis testis

    SciTech Connect

    Tyagi, G.; Munn, C.S.; Kiser, L.C.; Wetzner, S.M.; Tarabulcy, E. (New England Baptist Hospital, Boston, MA (USA))

    1989-08-01

    Malignant mesothelioma of the tunica vaginalis is rare, but sometimes curable. It is similar to malignant mesothelioma of the peritoneum and of the pleura, and is likewise associated with asbestos exposure. We report a case, with correlative computed tomography, ultrasound, and gross pathology images that demonstrate tiny tumor implants studding the vaginalis testis. The literature is reviewed.

  7. Transgenic mouse model for skin malignant melanoma

    Microsoft Academic Search

    Masashi Kato; Masahide Takahashi; Anwarul A Akhand; Wei Liu; Yan Dai; Satoru Shimizu; Takashi Iwamoto; Haruhiko Suzuki; Izumi Nakashima

    1998-01-01

    We report here on a novel metallothionein-I (MT)\\/ret transgenic mouse line in which skin melanosis, benign melanocytic tumor and malignant melanoma metastasizing to distant organs develop stepwise. The process of tumor development and its malignant transformation in this line may resemble that of the human giant congenital melanocytic nevus that is present at birth and that frequently gives rise to

  8. Gynecologic Malignancies Post-LeFort Colpocleisis

    PubMed Central

    2014-01-01

    Introduction. LeFort colpocleisis (LFC) is a safe and effective obliterative surgical option for older women with advanced pelvic organ prolapse who no longer desire coital activity. A major disadvantage is the limited ability to evaluate for post-LFC gynecologic malignancies. Methods. We present the first case of endometrioid ovarian cancer diagnosed after LFC and review all reported gynecologic malignancies post-LFC in the English medical literature. Results. This is the second reported ovarian cancer post-LFC and the first of the endometrioid subtype. A total of nine other gynecologic malignancies post-LFC have been reported in the English medical literature. Conclusions. Gynecologic malignancies post-LFC are rare. We propose a simple 3-step strategy in evaluating post-LFC malignancies. PMID:25525536

  9. Management of malignant hyperthermia: diagnosis and treatment

    PubMed Central

    Schneiderbanger, Daniel; Johannsen, Stephan; Roewer, Norbert; Schuster, Frank

    2014-01-01

    Malignant hyperthermia is a potentially lethal inherited disorder characterized by disturbance of calcium homeostasis in skeletal muscle. Volatile anesthetics and/or the depolarizing muscle relaxant succinylcholine may induce this hypermetabolic muscular syndrome due to uncontrolled sarcoplasmic calcium release via functionally altered calcium release receptors, resulting in hypoxemia, hypercapnia, tachycardia, muscular rigidity, acidosis, hyperkalemia, and hyperthermia in susceptible individuals. Since the clinical presentation of malignant hyperthermia is highly variable, survival of affected patients depends largely on early recognition of the symptoms characteristic of malignant hyperthermia, and immediate action on the part of the attending anesthesiologist. Clinical symptoms of malignant hyperthermia, diagnostic criteria, and current therapeutic guidelines, as well as adequate management of anesthesia in patients susceptible to malignant hyperthermia, are discussed in this review. PMID:24868161

  10. Management of malignant hyperthermia: diagnosis and treatment.

    PubMed

    Schneiderbanger, Daniel; Johannsen, Stephan; Roewer, Norbert; Schuster, Frank

    2014-01-01

    Malignant hyperthermia is a potentially lethal inherited disorder characterized by disturbance of calcium homeostasis in skeletal muscle. Volatile anesthetics and/or the depolarizing muscle relaxant succinylcholine may induce this hypermetabolic muscular syndrome due to uncontrolled sarcoplasmic calcium release via functionally altered calcium release receptors, resulting in hypoxemia, hypercapnia, tachycardia, muscular rigidity, acidosis, hyperkalemia, and hyperthermia in susceptible individuals. Since the clinical presentation of malignant hyperthermia is highly variable, survival of affected patients depends largely on early recognition of the symptoms characteristic of malignant hyperthermia, and immediate action on the part of the attending anesthesiologist. Clinical symptoms of malignant hyperthermia, diagnostic criteria, and current therapeutic guidelines, as well as adequate management of anesthesia in patients susceptible to malignant hyperthermia, are discussed in this review. PMID:24868161

  11. Expression of Cellular Oncogenes in Human Malignancies

    NASA Astrophysics Data System (ADS)

    Slamon, Dennis J.; Dekernion, Jean B.; Verma, Inder M.; Cline, Martin J.

    1984-04-01

    Cellular oncogenes have been implicated in the induction of malignant transformation in some model systems in vitro and may be related to malignancies in vivo in some vertebrate species. This article describes a study of the expression of 15 cellular oncogenes in fresh human tumors from 54 patients, representing 20 different tumor types. More than one cellular oncogene was transcriptionally active in all of the tumors examined. In 14 patients it was possible to study normal and malignant tissue from the same organ. In many of these patients, the transcriptional activity of certain oncogenes was greater in the malignant than the normal tissue. The cellular fes (feline sarcoma) oncogene, not previously known to be transcribed in mammalian tissue, was found to be active in lung and hematopoietic malignancies.

  12. Treatment Options for Osteosarcoma and Malignant Fibrous Histiocytoma of Bone

    MedlinePLUS

    ... for Clinical Trials NCI Publications Español Osteosarcoma and Malignant Fibrous Histiocytoma of Bone Treatment (PDQ®) Treatment Options for Osteosarcoma and Malignant Fibrous Histiocytoma of Bone Localized Osteosarcoma and Malignant ...

  13. Novel STXBP1 Mutations in 2 Patients With Early Infantile Epileptic Encephalopathy.

    PubMed

    Sampaio, Mafalda; Rocha, Ruben; Biskup, Saskia; Leão, Miguel

    2013-03-26

    The authors describe 2 patients with early infantile epileptic encephalopathy caused by 2 novel mutations involving the STXBP1 gene. The authors suggest that in spite of the rarity of STXBP1 mutations, molecular analysis of STXBP1 gene should be performed in patients with early infantile epileptic encephalopathy, after exclusion of ARX mutations in male patients and CDKL5 mutations in female patients. The potential mechanisms explaining the variable clinical phenotypes caused by STXBP1 mutations are discussed and the designation of early-onset epileptic encephalopathies, including an updated genetic classification, is proposed to encompass the epileptic encephalopathies beginning in the first 6 months of life. PMID:23533165

  14. Screening of Inherited Metabolic Disorders in Infants with Infantile Spasms.

    PubMed

    Liu, Xiao-Ming; Li, Rui; Chen, Sheng-Zhi; Sang, Yan; Chen, Jiao; Fan, Cong-Hai

    2014-11-23

    The objective of this study is to explore the incidence of inherited metabolic disorders (IMD) in infants with infantile spasms (IS), with an attempt to improve the early diagnosis and etiological and symptomatic treatment. Urine and blood samples were collected from 60 IS patients and analyzed for the quantification of amino acids, organic acids, and fatty acids by gas chromatography-mass spectrometry and tandem mass spectrum. Routine urine tests, hepatic function tests, blood biochemistry, brain imaging, as well as examinations of the brain stem auditory/visual evoked potentials were also examined. In addition to antiepileptic therapy, etiological and symptomatic treatments were also conducted in infants with confirmed IMD and the follow-up lasted for 6 months in these pediatric patients. Metabolic disorders were found in 28 (46.67 %) of 60 IS infants, among them 13 (21.67 %) were confirmed to be with IMD. Twelve of these 13 IS patients with definite IMD diagnoses (92.31 %) experienced varying degrees of delayed development of intelligence and motor function, 8 patients (61.54 %) had abnormal cranial CT or MRI findings, 11 patients (84.61 %) had abnormal brain stem evoked potentials, 4 patients (30.77 %) had abnormal hepatic functions, 3 patients (23.07 %) had abnormal blood biochemistry, 2 patients (15.38 %) had positive (+ to ++) results for routine urine ketones, and 2 patients (15.38 %) had skin lesions. After treatment in children who were diagnosed IMD, the well controlled epileptic seizures and the satisfactory developments in mental and motor were found in 4 cases of methylmalonic acidemia, 2 cases of classical phenylketonuria, and one case of biotin deficiency disease, glutaric acidemia type I, and 4-hydroxybutyric aciduria in each. IMD is a key biological cause in IS. Early screening for IMD is warranted in IS infants to facilitate the improvement for the prognosis and an early etiological treatment. PMID:25417060

  15. Identification of Serum Regression Signs in Infantile Hemangioma

    PubMed Central

    Rossi, Stefania; Giampietri, Claudia; Facchiano, Francesco; Facchiano, Antonio

    2014-01-01

    Vessel proliferation underlies a number of serious pathological conditions. Infantile Hemangioma (IH) is a low-aggressive vascular tumor, interesting as an in vivo model of spontaneous tumor regression. Identifying mechanisms underlying IH spontaneous regression may then help to elucidate vessel-growth control, strongly deregulated in other serious conditions such as sarcoma, melanoma, diabetic retinopathy. The present study was aimed at identifying early regression indicators within hematological parameters. Thirty-four blood samples were collected from IH diagnosed babies (20-months median age), spontaneously regressing with age. Nineteen serum standard blood-tests were carried out using diagnostic reagents; in addition, serum-expression of 27 cytokine/chemokines was measured. Samples were divided in three age-groups, namely ?12, 13 to 24 and >24 months-age, respectively. Red-cells count, Hemoglobin, Hematocrit, Neutrophils, Lymphocytes, MCP-1 and MIP-1beta were significantly different in the three age-groups, according to one-way ANOVA analysis. The same parameters showed a significant Pearson-correlation with age, supporting the direct link of age with IH-regression. ROC analysis showed that red-cells count, Hemoglobin, Hematocrit, MCP-1 and MIP-1beta levels significantly discriminate IH in the proliferating-phase from IH in the regressing-phase. Such data indicate for the first time that standard hematological tests and cytokine serum-expression values may effectively discriminate proliferating- from regressing-IH, unrevealing early regression signs, and demonstrate that standard blood-tests may have novel unsuspected diagnostic/prognostic relevance in altered vessel-growth conditions. PMID:24599340

  16. Vigabatrin retinal toxicity in children with infantile spasms

    PubMed Central

    Wright, Tom; Cortese, Filomeno; Kumarappah, Ananthavalli; Snead, O. Carter; Buncic, Joseph R.

    2014-01-01

    Objectives: To determine time to vigabatrin (VGB, Sabril; Lundbeck, Deerfield, IL) induced retinal damage in children with infantile spasms (IS) and to identify risk factors for VGB-induced retinal damage (VGB-RD). Methods: Observational cohort study including 146 participants (68 female, 81 male) with IS, an age-specific epilepsy syndrome of early infancy, treated with VGB. Participants ranged from 3 to 34.9 months of age (median 7.6 months). The median duration of VGB treatment was 16 months (range 4.6–78.5 months). Electroretinograms (ERGs) were performed according to the Standards of the International Society for Clinical Electrophysiology of Vision. Inclusion required baseline (pre-VGB or within 4 weeks of starting VGB treatment) and at least 2 follow-up ERGs. Significant reduction from baseline of the 30-Hz ERG flicker amplitude on 2 consecutive visits identified VGB-RD. Kaplan-Meier survival analyses depicted the effect of duration of VGB on VGB-RD. Results: These data represent the largest survival analysis of children treated with VGB who did not succumb to retinal toxicity during the study. Thirty of the 146 participants (21%) showed VGB-RD. The ERG amplitude reduced with duration of VGB treatment (p = 0.0004) with no recovery after VGB cessation. With 6 and 12 months of VGB treatment, 5.3% and 13.3%, respectively, developed VGB-RD. There was neither effect of age of initiation of VGB treatment nor sex of the child on survival statistics and no significant effect of cumulative dosage on the occurrence of VGB-RD. Conclusions: Minimizing VGB treatment to 6 months will reduce the prevalence of VGB-RD in patients with IS. PMID:25381295

  17. The Temporal Impulse Response Function in Infantile Nystagmus

    PubMed Central

    Bedell, Harold E.; Ramamurthy, Mahalakshmi; Patel, Saumil S.; Subramaniam, Shobana; Vu-Yu, Lan-Phuong; Tong, Jianliang

    2008-01-01

    Despite rapid to-and-fro motion of the retinal image that results from their incessant involuntary eye movements, persons with infantile nystagmus (IN) rarely report the perception of motion smear. We performed two experiments to determine if the reduction of perceived motion smear in persons with IN is associated with an increase in the speed of the temporal impulse response. In Experiment 1, increment thresholds were determined for pairs of successively presented flashes of a long horizontal line, presented on a 65 cd/m2 background field. The stimulus-onset asynchrony (SOA) between the first and second flash varied from 5.9 to 234 ms. In experiment 2, temporal contrast sensitivity functions were determined for a 3 cpd horizontal square wave grating that underwent counterphase flicker at temporal frequencies between 1 and 40 Hz. Data were obtained for 2 subjects with predominantly pendular IN and 8 normal observers in Experiment 1 and for 3 subjects with IN and 4 normal observers in Experiment 2. Temporal impulse response functions (TIRFs) were estimated as the impulse response of a linear second-order system that provided the best fit to the increment threshold data in Experiment 1 and to the temporal contrast sensitivity functions in Experiment 2. Estimated TIRFs of the subjects with pendular IN have natural temporal frequencies that are significantly faster than those of normal observers (ca. 13 vs. 9 Hz), indicating an accelerated temporal response to visual stimuli. This increase in response speed is too small to account by itself for the virtual absence of perceived motion smear in subjects with IN, and additional neural mechanisms are considered. PMID:18550143

  18. Infantile immunoglobulin A nephropathy showing features of membranoproliferative glomerulonephritis.

    PubMed

    Kurosu, Akira; Oka, Noriko; Hamaguchi, Takeshi; Yoshikawa, Norishige; Joh, Kensuke

    2012-01-01

    Immunoglobulin A nephropathy (IgAN) showing predominant IgA and complement 3 (C3) deposition on the mesangium is an immune complex-mediated glomerulonephritis. This renal disease is the most common primary glomerular disease worldwide. However, infantile onset of IgAN is rare. In the present patient, urinary protein and occult blood were detected in a girl aged 1 year and 8 months on urinalysis at a nursery school. Despite being young, a kidney biopsy was performed for diagnosis and the correct choice of therapy. Glomerular mesangial cell proliferation and a double contour of the glomerular basement membrane (GBM) resembling a railroad track were noted on light microscopy. Therefore, the patient was diagnosed morphologically with membranoproliferative glomerulonephritis (MPGN), because mesangial hypercellularity and thickening of the GBM were identified. However, on immunofluorescent staining, the deposition of immune complexes mainly consisting of IgA, IgG, and C3 was noted in the mesangial region and glomerular capillary loops. On electron microscopy, electron-dense deposits were recognized in the subendothelial and paramesangial regions associated with mesangial cell interposition into the subendothelial space. Autoimmune diseases and infection-associated secondary glomerulonephritis were clinically excluded, because there were no relevant signs or symptoms. Steroid treatment was initiated and findings of urinalysis were normalized within 8 months. This patient was finally diagnosed with IgA nephropathy showing the features of MPGN. The present patient was the youngest among reported cases of IgA nephropathy, suggesting that early onset of IgAN is associated with an MPGN-like lesion. The present report provides information for pathogenesis of IgA nephropathy. PMID:23089637

  19. A retrospective study to classify surgical indications for infantile hemangiomas.

    PubMed

    Lee, Andrew H Y; Hardy, Krista L; Goltsman, David; Liou, Peter; Garzon, Maria C; Rohde, Christine H; Wu, June K

    2014-09-01

    Infantile hemangiomas (IHs) spontaneously involute, but some leave contour deformities necessitating surgical correction. There is a paucity of data reviewing predictive risk factors associated with a need for surgery to guide clinicians when counseling parents. Patients undergoing IH resection by a single surgeon from August 2004 to August 2011 were reviewed to determine patient (age, gender, birth history) and IH characteristics (size, location) associated with surgical intervention. Data were compared to published data from the Hemangioma Investigator Group (HIG). Statistical analysis was performed using Student's t-test, odds ratio, and logistic regression analysis. Out of 196 referred patients, 112 underwent surgery. There was a female preponderance (3.5:1). Two-thirds of patients (64.9%) first presented to the surgeon at ?2 years of age, but most underwent surgery between 2 and 3 years (52.7%; average lag time, 11 months). 18 patients underwent surgery at ?1 year of age. IH patients with preterm birth history had increased risk for needing surgical intervention (odds ratio 2.124, CI 1.31-3.44; p < 0.0012). A majority (84.7%) of resected IHs were located on the head or neck, significantly higher than the distribution from the HIG data (62.2%; p < 0.0001). Resected head and neck IHs were smaller than those below the neck (average, 8.85 cm(2) vs. 22.35 cm(2), p = 0.017). Preterm birth is associated with higher risk for requiring surgical intervention. IHs on the head and neck are more likely to be removed when compared to those below the neck, and at a smaller size threshold. PMID:24923525

  20. Metastatic malignant phyllodes tumor involving the cerebellum.

    PubMed

    Rowe, J Jordi; Prayson, Richard A

    2015-01-01

    Brain metastases from malignant phyllodes tumors of the breast are a rare occurrence. We report a patient with a malignant phyllodes tumor of the right breast which subsequently metastasized to the right lower lobe of the lung 1 year after initial presentation, and to the right cerebellar hemisphere 2 years after diagnosis of her breast mass. After both chemotherapy and whole brain radiotherapy the patient is tumor free at most recent follow-up, 116 months after the breast tumor diagnosis was made. The literature is briefly reviewed and the differential diagnosis of malignant spindle cell brain tumors is discussed. PMID:25449208

  1. Novel immunotherapies for hematologic malignancies.

    PubMed

    Nelson, Michelle H; Paulos, Chrystal M

    2015-01-01

    The immune system is designed to discriminate between self and tumor tissue. Through genetic recombination, there is fundamentally no limit to the number of tumor antigens that immune cells can recognize. Yet, tumors use a variety of immunosuppressive mechanisms to evade immunity. Insight into how the immune system interacts with tumors is expanding rapidly and has accelerated the translation of immunotherapies into medical breakthroughs. Herein, we appraise novel strategies that exploit the patient's immune system to kill cancer. We review various forms of immune-based therapies, which have shown significant promise in patients with hematologic malignancies, including (i) conventional monoclonal therapies like rituximab; (ii) engineered monoclonal antibodies called bispecific T-cell engagers; (iii) monoclonal antibodies and pharmaceutical drugs that block inhibitory T-cell pathways (i.e. PD-1, CTLA-4, and IDO); and (iv) adoptive cell transfer therapy with T cells engineered to express chimeric antigen receptors or T-cell receptors. We also assess the idea of using these therapies in combination and conclude by suggesting multi-prong approaches to improve treatment outcomes and curative responses in patients. PMID:25510273

  2. Malignant Peripheral Nerve Sheath Tumors

    PubMed Central

    Farid, Mohamad; Demicco, Elizabeth G.; Garcia, Roberto; Ahn, Linda; Merola, Pamela R.; Cioffi, Angela

    2014-01-01

    Malignant peripheral nerve sheath tumors (MPNST) are uncommon, biologically aggressive soft tissue sarcomas of neural origin that pose tremendous challenges to effective therapy. In 50% of cases, they occur in the context of neurofibromatosis type I, characterized by loss of function mutations to the tumor suppressor neurofibromin; the remainder arise sporadically or following radiation therapy. Prognosis is generally poor, with high rates of relapse following multimodality therapy in early disease, low response rates to cytotoxic chemotherapy in advanced disease, and propensity for rapid disease progression and high mortality. The last few years have seen an explosion in data surrounding the potential molecular drivers and targets for therapy above and beyond neurofibromin loss. These data span multiple nodes at various levels of cellular control, including major signal transduction pathways, angiogenesis, apoptosis, mitosis, and epigenetics. These include classical cancer-driving genetic aberrations such as TP53 and phosphatase and tensin homolog (PTEN) loss of function, and upregulation of mitogen-activated protein kinase (MAPK) and (mechanistic) target of rapamycin (TOR) pathways, as well as less ubiquitous molecular abnormalities involving inhibitors of apoptosis proteins, aurora kinases, and the Wingless/int (Wnt) signaling pathway. We review the current understanding of MPNST biology, current best practices of management, and recent research developments in this disease, with a view to informing future advancements in patient care. PMID:24470531

  3. Improved radioimmunotherapy of hematologic malignancies

    SciTech Connect

    Press, O.W.

    1992-03-24

    This research project proposes to develop novel new approaches of improving the radioimmunodetection and radioimmunotherapy of malignancies by augmenting retention of radioimmunoconjugates by tumor cells. The approaches shown to be effective in these laboratory experiments will subsequently be incorporated into out ongoing clinical trials in patients. Specific project objectives include: to study the rates of endocytosis, intracellular routing, and metabolic degradation of radiolabeled monoclonal antibodies targeting tumor-associated antigens on human leukemia and lymphoma cells; To examine the effects of lysosomotropic amines (e.g. chloroquine, amantadine), carboxylic ionophores (monensin, nigericin), and thioamides (propylthiouracil), on the retention of radiolabeled MoAbs by tumor cells; to examine the impact of newer radioiodination techniques (tyramine cellobiose, paraiodobenzoyl) on the metabolic degradation of radioiodinated antibodies; to compare the endocytosis, intracellular routing, and degradation of radioimmunoconjugates prepared with different radionuclides ({sup 131}Iodine, {sup 111}Indium, {sup 90}Yttrium, {sup 99m}Technetium, {sup 186}Rhenium); and to examine the utility of radioimmunoconjugates targeting oncogene products for the radioimmunotherapy and radioimmunoscintigraphy of cancer.

  4. Metastatic malignant melanoma affecting stomach.

    PubMed

    Eivazi-Ziaei, Jamal; Esmaili, Heidarali

    2014-01-01

    Malignant melanoma has been reported to affect all organs of the human body with the metastasis. Stomach metastases are quite rare in cases of the most commonly reported primaries including, melanoma and breast, and lung carcinomas. This report involves, a 56-year-old man suffering from melanoma of the lower extremity that developed into gastric, pulmonary, and brain metastases. The patient who experienced epigastric pain with suspicious melanoma was referred to undergo endoscopy. A black and white ulcer with dimensions of 1 × 1.5 cm and a mass of 1 × 2 cm mass were found at D1 and lesser curvature. Physical examination revealed a 2 × 3 cm black lesion at his right heel. Pathologic examination provided multiple pieces of creamy soft-tissue measuring 0.3 × 0.2 × 0.1 cm showing pigmented tumor cells in lamina propria. Staining biopsy samples with anti-HMB-45 and Fontana demonstrated a higher degree of positivity in tumor cells. The patient was admitted to the hospital, but unfortunately his general conditions were deteriorated and he developed convulsion and deceased four days after admission. PMID:25313770

  5. Malignant melanoma and bone resorption

    PubMed Central

    Lau, Y S; Sabokbar, A; Giele, H; Cerundolo, V; Hofstetter, W; Athanasou, N A

    2006-01-01

    The cellular and humoral mechanisms accounting for osteolysis in skeletal metastases of malignant melanoma are uncertain. Osteoclasts, the specialised multinucleated cells that carry out bone resorption, are derived from monocyte/macrophage precursors. We isolated tumour-associated macrophages (TAMs) from metastatic (lymph node/skin) melanomas and cultured them in the presence and absence of osteoclastogenic cytokines and growth factors. The effect of tumour-derived fibroblasts and melanoma cells on osteoclast formation and resorption was also analysed. Melanoma TAMs (CD14+/CD51?) differentiated into osteoclasts (CD14?/CD51+) in the presence of receptor activator for nuclear factor ?B ligand (RANKL) and macrophage-colony stimulating factor. Tumour-associated macrophage-osteoclast differentiation also occurred via a RANKL-independent pathway when TAMs were cultured with tumour necrosis factor-? and interleukin (IL)-1?. RT–PCR showed that fibroblasts isolated from metastatic melanomas expressed RANKL messenger RNA and the conditioned medium of cultured melanoma fibroblasts was found to be capable of inducing osteoclast formation in the absence of RANKL; this effect was inhibited by the addition of osteoprotegerin (OPG). We also found that cultured human SK-Mel-29 melanoma cells produce a soluble factor that induces osteoclast differentiation; this effect was not inhibited by OPG. Our findings indicate that TAMs in metastatic melanomas can differentiate into osteoclasts and that melanoma fibroblasts and melanoma tumour cells can induce osteoclast formation by RANKL-dependent and RANKL-independent mechanisms, respectively. PMID:16641914

  6. Malignant melanoma and bone resorption.

    PubMed

    Lau, Y S; Sabokbar, A; Giele, H; Cerundolo, V; Hofstetter, W; Athanasou, N A

    2006-05-22

    The cellular and humoral mechanisms accounting for osteolysis in skeletal metastases of malignant melanoma are uncertain. Osteoclasts, the specialised multinucleated cells that carry out bone resorption, are derived from monocyte/macrophage precursors. We isolated tumour-associated macrophages (TAMs) from metastatic (lymph node/skin) melanomas and cultured them in the presence and absence of osteoclastogenic cytokines and growth factors. The effect of tumour-derived fibroblasts and melanoma cells on osteoclast formation and resorption was also analysed. Melanoma TAMs (CD14+/CD51-) differentiated into osteoclasts (CD14-/CD51+) in the presence of receptor activator for nuclear factor kappaB ligand (RANKL) and macrophage-colony stimulating factor. Tumour-associated macrophage-osteoclast differentiation also occurred via a RANKL-independent pathway when TAMs were cultured with tumour necrosis factor-alpha and interleukin (IL)-1alpha. RT-PCR showed that fibroblasts isolated from metastatic melanomas expressed RANKL messenger RNA and the conditioned medium of cultured melanoma fibroblasts was found to be capable of inducing osteoclast formation in the absence of RANKL; this effect was inhibited by the addition of osteoprotegerin (OPG). We also found that cultured human SK-Mel-29 melanoma cells produce a soluble factor that induces osteoclast differentiation; this effect was not inhibited by OPG. Our findings indicate that TAMs in metastatic melanomas can differentiate into osteoclasts and that melanoma fibroblasts and melanoma tumour cells can induce osteoclast formation by RANKL-dependent and RANKL-independent mechanisms, respectively. PMID:16641914

  7. Resistin: insulin resistance to malignancy.

    PubMed

    Codoñer-Franch, Pilar; Alonso-Iglesias, Eulalia

    2015-01-01

    Adipose tissue is recognized as an endocrine organ that secretes bioactive substances known as adipokines. Excess adipose tissue and adipose tissue dysfunction lead to dysregulated adipokine production that can contribute to the development of obesity-related co-morbidities. Among the various adipokines, resistin, which was initially considered as a determinant of the emergence of insulin resistance in obesity, has appeared as an important link between obesity and inflammatory processes. Several experimental and clinical studies have suggested an association between increased resistin levels and severe conditions associated with obesity such as cardiovascular disease and malignancies. In this review, we present the growing body of evidence that human resistin is an inflammatory biomarker and potential mediator of obesity-associated diseases. A common pathway seems to involve the combined alteration of immune and inflammatory processes that favor metabolic disturbances, atherosclerosis and carcinogenesis. The mode of action and the signaling pathways utilized by resistin in its interactions with target cells could involve oxidative and nitrosative stress. Therefore, resistin could function as a key molecule in the complications of obesity development and could potentially be used as a diagnostic and prognostic marker. PMID:25128719

  8. REVIEW Open Access Myeloid malignancies: mutations, models

    E-print Network

    Paris-Sud XI, Université de

    Myeloid malignant diseases comprise chronic (including myelodysplastic syndromes, myeloproliferative. They comprise chronic stages such as myeloproliferative neoplasms (MPN), myelodysplastic syndromes (MDS]. MPNs comprise a variety of disorders such as chronic myeloid leukemia (CML) and non-CML MPNs

  9. Malignant transformation of persistent endometriosis after hysterectomy

    PubMed Central

    Bawazeer, Naif A.; Al-Jifree, Hatim M.; Gari, Abdulrahim M.

    2014-01-01

    The malignant transformation of persistent endometriotic implants into endometrioid adenocarcinoma is rare, especially after remote hysterectomy and salpingo-oophorectomy (TAH-BSO), and there are few cases reported in the English language literature. Patients receiving estrogen replacement therapy are common among the reported cases. We present a case that demonstrates the possibility of malignant transformation in a 53-year-old female, known case of endometriosis, who underwent total abdominal hysterectomy and bilateral salpingo-oophorectomy with no evidence of malignancy in the final pathology report. After 9 years, she presented with lower abdominal mass, and histopathological studies confirmed the diagnosis of well-differentiated endometrioid adenocarcinoma. The possibility of malignant transformation and possible risk factors are discussed with a brief literature review. PMID:25399218

  10. Isolated Malignant Melanoma Metastasis to the Pancreas

    PubMed Central

    Krag, Christen; Geertsen, Poul; Jakobsen, Linda P.

    2013-01-01

    Summary: Malignant melanomas rarely develop isolated pancreatic metastases. We describe a unique patient who is still alive 22 years following an isolated pancreatic melanoma metastasis, and we review the sparse literature in the field. PMID:25289269

  11. Duodenal stents for malignant duodenal strictures.

    PubMed Central

    Johnston, S. D.; McKelvey, S. T. D.; Moorehead, R. J.; Spence, R. A. J.; Tham, T. C. K.

    2002-01-01

    Duodenal obstruction may be caused by inoperable malignant disease. Symptoms of nausea and vomiting have been traditionally palliated by surgery. The aim of the study was to determine the efficacy of the endoscopic placement of metal self expanding duodenal stents for the palliation of malignant duodenal obstruction. Four patients with malignant gastric outlet obstruction are described. One patient had a history of oesophagectomy for oesophageal adenocarcinoma and presented with further dysphagia. At endoscopy the recurrent oesophageal tumour and an adenocarcinoma involving the pylorus were both stented. In the other three patients there was a previous history of colonic carcinoma, cholangiocarcinoma and oesophageal adenocarcinoma respectively. All four patients were successfully stented with good palliation of their symptoms. Duodenal Wallstents are a useful alternative to surgery in patients with inoperable malignant duodenal obstruction or those who are unfit for surgery. Images Fig 1 Fig 2 PMID:12137161

  12. [Prognostic and predictive markers of malignant melanoma].

    PubMed

    Rásó, Erzsébet; Barbai, Tamás; Gyõrffy, Balázs; Tímár, József

    2013-06-01

    Malignant melanoma biologically can be divided into non-metastatic and metastatic forms which cannot be predicted precisely using classical clinicopathological parameters, therefore studies on novel genetic or protein markers are abundant in the literature. These studies did not result in clinically useful markers because mostly ignored the results of studies on the genetic basis of metastatic potential of malignant melanoma. Accordingly, the list of promising novel markers is short (BCL2, CDK2, MART-1, OPN). Similar to other solid malignancies, introduction of targeted therapy into clinical practice of melanoma turned the attention toward the genetic basis of resistance to chemo- and targeted therapies. These novel data could lead to the development of molecular diagnostics which can help in designing more effective therapeutic strategies of malignant melanoma. PMID:23795352

  13. New developments in surgery of malignant gliomas

    PubMed Central

    Vranic, Andrej

    2011-01-01

    Background Malignant gliomas account for a high proportion of brain tumours. With new advances in neurooncology, the recurrence-free survival of patients with malignant gliomas has been substantially prolonged. It, however, remains dependent on the thoroughness of the surgical resection. The maximal tumour resection without additional postoperative deficit is the goal of surgery on patients with malignant gliomas. In order to minimize postoperative deficit, several pre- and intraoperative techniques have been developed. Conclusions Several techniques used in malignant glioma surgery have been developed, including microsurgery, neuroendoscopy, stereotactic biopsy and brachytherapy. Imaging and functional techniques allowing for safer tumour resection have a special value. Imaging techniques allow for better preoperative visualization and choice of the approach, while functional techniques help us locate eloquent regions of the brain. PMID:22933950

  14. Gastrointestinal carcinoid tumors and second primary malignancies.

    PubMed

    Habal, N; Sims, C; Bilchik, A J

    2000-12-01

    The development of second primary malignancies (SPM) in patients with gastrointestinal carcinoid tumors is a well-described phenomenon, with reported rates as high as 55%. There is a predilection for gastrointestinal and genitourinary adenocarcinomas, but a variety of other malignancies have been reported as well. The etiology of this malignant predisposition may be rooted in the tumorigenic properties of the various neuroendocrine peptides elaborated and secreted by neuroendocrine cells. Peptides such as secretin, gastrin, bombesin, cholecystokinin (CCK), and vasoactive intestinal peptide (VIP) are believed to promote the growth of tumor cells. As many as 30 peptides and amines identified in neuroendocrine cells may have similar properties. This review of the literature on carcinoid-associated second primary malignancies is accompanied by a case report of metastatic carcinoid identified during surgical exploration for a perforating colon adenocarcinoma. PMID:11135275

  15. Infantile spasms and early immunization against whooping cough. Danish survey from 1970 to 1975

    Microsoft Academic Search

    J C Melchior

    1977-01-01

    113 cases of infantile spasms were diagnosed in the period 1 April 1970 to 31 March 1975 after Denmark changed her immunization programme. Previously whooping cough vaccine was given as the triple combination at 5, 6, and 15 months of age. From 1 April 1970 it was given as a monovalent vaccine at 5 and 9 weeks of age and

  16. A comparison of five diagnostic systems for childhood schizophrenia and infantile autism

    Microsoft Academic Search

    Marian K. DeMyer; Don W. Churchill; William Pontius; Katherine M. Gilkey

    1971-01-01

    Five diagnostic systems designed to differentiate infantile autism and early childhood schizophrenia were compared by deriving scores on 44 children referred consecutively to the same clinical center. While the autistic scales devised by Rimland, Polan and Spencer, Lotter, and the British Working Party correlated significantly, the degree of correspondence (35%) indicated that several children obtained high autistic scores in one

  17. Infantile autism: A total population study of reduced optimality in the pre-, peri-, and neonatal period

    Microsoft Academic Search

    Christopher Gillberg; I. Carina Gillberg

    1983-01-01

    Twenty-five autistic children, constituting a total population sample of children with infantile autism, were compared with 25 sex- and maternityclinic-matched controls for occurrence of reduced optimality in the pre-, peri-, and neonatal period, as noted in medical records. Autistic children showed greatly increased scores for reduced optimality, especially with regard to prenatal factors. The findings are at odds with early

  18. Neuropsychological Findings in High-Functioning Men with Infantile Autism, Residual State

    Microsoft Academic Search

    Judith M. Rumsey; Susan D. Hamburger

    1988-01-01

    Ten men (ages 18–39) with clear histories of Infantile autism and approximately average verbal and nonverbal intelligence were studied with a comprehensive battery of neuropsychological tests. Comparisons with 10 matched normal controls showed no significant differences in many visuoperceptual or memory skills or in sensory-perceptual or motor skills or their lateralization. Differences seen on language measures were small, but statistically

  19. Delayed-onset of multiple cutaneous infantile hemangiomas due to propranolol: a case report.

    PubMed

    Porcel Chacón, Rocío; Del Boz González, Javier; Navarro Morón, Juan

    2015-04-01

    Infantile hemangiomas are the most common vascular tumors in childhood. In view of its proven effectiveness in such cases, propranolol is the drug of choice. We present the case of a male infant who started treatment with propranolol shortly after birth due to heart disease. After 7 months, when the patient had suffered various respiratory exacerbations, this treatment was suspended. One week later, multiple skin lesions (ie, multifocal infantile hemangiomas) began to appear, with no extracutaneous involvement. It was decided to resume treatment with propranolol, although at lower doses than before, and the skin lesions improved rapidly, with some disappearing completely. Treatment was definitively withdrawn at age 16 months, with only slight recurrence of the lesions. The case described is of multifocal infantile hemangiomas without extracutaneous involvement appearing beyond the neonatal period after treatment with propranolol beginning in the first days of life. The details of the case support the hypothesis that this drug is not only therapeutic but also plays a prophylactic role against infantile hemangiomas. In turn, this supports the recent proposal that this drug may be useful in preventing the growth and spread of tumors with high angiogenic potential. It is postulated that the inhibition of ?-adrenergic receptors is associated with multiple intracellular processes related to the progression and metastasis of different tumors. PMID:25780066

  20. Infantile hemangioendothelioma of the liver: a radiologic-pathologic-clinical correlation

    SciTech Connect

    Dachman, A.H.; Lichtenstein, J.E.; Friedman, A.C.; Hartman, D.S.

    1983-06-01

    Infantile hemangioendothelioma is the most common symptomatic vascular liver tumor of infancy. It is considered a benign tumor; however, aggressive behavior is occasionally seen microscopically, and rarely distant metastases have been reported. The exact incidence of infantile hemangioendothelioma is difficult to determine because often it has been either misdiagnosed or mislabeled as cavernous hemangioma in the literature. Cavernous hemangioma is the most common primary liver tumor in older age groups but is rarely found in infants as a clinically significant tumor. Levick and Rubie were the first to recognize an association between hemangioendothelioma of the liver and congestive heart failure, and there were subsequent reports substantiating this association. However, it is our impression and the finding of others that congestive heart failure is distinctly less common than abdominal mass or hepatomegaly as the presenting sign in infantile hemangioendothelioma. Congestive heart failure is rarely a feature of cavernous hemangioma. Because of the errors in terminology and questions regarding clinical presentation, a radiologic-pathologic-clinical correlation study of infantile hemangioendothelioma and review of the literature was undertaken.

  1. Phenotypical Characteristics of Idiopathic Infantile Nystagmus with and without Mutations in "FRMD7"

    ERIC Educational Resources Information Center

    Thomas, Shery; Proudlock, Frank A.; Sarvananthan, Nagini; Roberts, Eryl O.; Awan, Musarat; McLean, Rebecca; Surendran, Mylvaganam; Kumar, A. S. Anil; Farooq, Shegufta J.; Degg, Chris; Gale, Richard P.; Reinecke, Robert D.; Woodruff, Geoffrey; Langmann, Andrea; Lindner, Susanne; Jain, Sunila; Tarpey, Patrick; Raymond, F. Lucy; Gottlob, Irene

    2008-01-01

    Idiopathic infantile nystagmus (IIN) consists of involuntary oscillations of the eyes. The familial form is most commonly X-linked. We recently found mutations in a novel gene "FRMD7" (Xq26.2), which provided an opportunity to investigate a genetically defined and homogeneous group of patients with nystagmus. We compared clinical features and eye…

  2. Randomised controlled trial of infantile colic treated with chiropractic spinal manipulation

    Microsoft Academic Search

    E Olafsdottir; S Forshei; G Fluge; T Markestad

    2001-01-01

    AIMSTo investigate the efficacy of chiropractic spinal manipulation in the management of infantile colic.METHODSOne hundred infants with typical colicky pain were recruited to a randomised, blinded, placebo controlled clinical trial.RESULTSNine infants were excluded because inclusion criteria were not met, and five dropped out, leaving 86 who completed the study. There was no significant effect of chiropractic spinal manipulation. Thirty two

  3. Early Childhood Psychosis: Infantile Autism, Childhood Schizophrenia and Related Disorders. An Annotated Bibliography 1964 to 1969.

    ERIC Educational Resources Information Center

    Bryson, Carolyn Q.; Hingtgen, Joseph N.

    The annotated bibliography on early childhood psychosis (infantile autism, childhood schizophrenia, and related disorders) contains 424 entries (books, journal articles, conference and research reports) dating from 1964 through the first 6 months of 1970, which pertain to theory, research, and treatment. Number of entries for each subject is noted…

  4. Infantile generalized pustular psoriasis: a case report and review of the literature

    Microsoft Academic Search

    Yung-Shun Su; Gwo-Shing Chen; Cheng-Che E. Lan

    2011-01-01

    Infantile generalized pustular psoriasis (von Zumbusch) is a rare form of psoriasis. Here, we report a 3-month-old Taiwanese girl who was treated with Chinese herbal medicine for abdominal fullness starting at 1 month of age. Around 1 month into the treatment, sudden onset of generalized erythematous plaques with scales and pustules was noted which lasted for 1 month. Histopathology of

  5. Molecular Correlates of Age-Dependent Seizures in an Inherited Neonatal-Infantile Epilepsy

    ERIC Educational Resources Information Center

    Liao, Yunxiang; Deprez, Liesbet; Maljevic, Snezana; Pitsch, Julika; Claes, Lieve; Hristova, Dimitrina; Jordanova, Albena; Ala-Mello, Sirpa; Bellan-Koch, Astrid; Blazevic, Dragica; Schubert, Simone; Thomas, Evan A.; Petrou, Steven; Becker, Albert J.; De Jonghe, Peter; Lerche, Holger

    2010-01-01

    Many idiopathic epilepsy syndromes have a characteristic age dependence, the underlying molecular mechanisms of which are largely unknown. Here we propose a mechanism that can explain that epileptic spells in benign familial neonatal-infantile seizures occur almost exclusively during the first days to months of life. Benign familial…

  6. Use of propranolol in infantile haemangiomas: report of five cases and review of the literature

    PubMed Central

    Gidaris, D; Economou, M; Hatzidemetriou, V; Gombakis, N; Athanassiou - Metaxa, M

    2011-01-01

    Infantile haemangiomas are common benign tumours that do not require treatment unless they cause significant functional impairment or disfigurement. We report our experience with the off-label use of propranolol in 5 children with haemangiomas and review the relevant literature. PMID:21607042

  7. AAV2-mediated Ocular Gene Therapy for Infantile Neuronal Ceroid Lipofuscinosis

    Microsoft Academic Search

    Megan Griffey; Shannon L. Macauley; Judith M. Ogilvie; Mark S. Sands

    2005-01-01

    Infantile neuronal ceroid lipofuscinosis (INCL) is a neurodegenerative disorder caused by mutations in the gene encoding the lysosomal enzyme palmitoyl protein thioesterase-1 (PPT1). The earliest clinical sign in INCL is blindness, followed by seizures, cognitive deficits, and early death. Little is known about the progression of the visual deficits in INCL. Here we characterize the progressive retinal dysfunction and examine

  8. Transplantation of Umbilical-Cord Blood in Babies with Infantile Krabbe's Disease

    Microsoft Academic Search

    Maria L. Escolar; Michele D. Poe; James M. Provenzale; Karen C. Richards; June Allison; Susan Wood; David A. Wenger; Daniel Pietryga; Donna Wall; Martin Champagne; Richard Morse; William Krivit; Joanne Kurtzberg

    2005-01-01

    background Infantile Krabbe's disease produces progressive neurologic deterioration and death in early childhood. We hypothesized that transplantation of umbilical-cord blood from unrelated donors before the development of symptoms would favorably alter the natu- ral history of the disease among newborns in whom the disease was diagnosed because of a family history. We compared the outcomes among these newborns with the

  9. Facilitating Internal Regulation of Eating: A Treatment Model for Infantile Anorexia.

    ERIC Educational Resources Information Center

    Chatoor, Irene; And Others

    1997-01-01

    A study of 20 toddlers with infantile anorexia tested a therapeutic intervention that helps parents understand and deal with the infant's temperament, addresses the difficulties the parents may have in setting limits, and provides parents with recommendations on how to structure meal times in order to facilitate internal regulation of eating.…

  10. Autoimmune Diseases in Parents of Children with Infantile Autism: A Case--Control Study

    ERIC Educational Resources Information Center

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben; Nedergaard, Niels Jorgen

    2007-01-01

    This register study compared the rates and types of autoimmune disease in the parents of 111 patients (82 males, 29 females; mean age at diagnosis 5y 5mo [SD 2y 6mo]) with infantile autism (IA) with a matched control group of parents of 330 children from the general population. All parents were screened through the nationwide Danish National…

  11. Idiopathic infantile arterial calcification: a case report and review of the literature

    Microsoft Academic Search

    Ch. Maayan; O. Peleg; F. Eyal; P. Mogle; E. Rosenmann; J. Bar Ziv

    1984-01-01

    Idiopathic infantile arterial calcification (IIAC) was diagnosed radiologically in an infant with sudden onset of heart failure. The clinical picture, radiological, laboratory and postmorten findings, are described in detail. There was no family history and a metabolic abnormality could not be detected.

  12. Idiopathic infantile arterial calcification: Roentgen diagnosis of a rare cause of coronary artery occlusion

    Microsoft Academic Search

    J. Lussier-Lazaroff; B. D. Fletcher

    1973-01-01

    Infantile arterial calcification is a rare disorder of unknown etiology which is usually generalized and leads to death from coronary artery occlusion. The involved arteries show calcification of the internal elastic lamina and marked intimal proliferation. Vascular calcifications were demonstrated radiographically in 9 previously recorded cases. Three new patients are reported who presented with congestive heart failure. The visualization of

  13. LOGRO ACADÉMICO, ASISTENCIA ESCOLAR Y RIESGO DE TRABAJO INFANTIL Y JUVENIL EN LA SÁBANA DE BOGOTÁ

    Microsoft Academic Search

    Fabio Sánchez; Camila Fernández; Laura Cuesta; Victoria Soto

    2006-01-01

    Este trabajo analiza los determinantes de la relación entre asistencia escolar y trabajo infantil y juvenil, en los municipios de Funza y Madrid (Colombia). Se busca responder a las preguntas: ¿Existe algún vínculo entre la decisión de no asistir y la participación de niños y jóvenes en el mercado laboral? y ¿Cuál es el efecto del logro académico en las

  14. Oral rehydration in infantile diarrhoea. Controlled trial of a low sodium glucose electrolyte solution

    Microsoft Academic Search

    A Chatterjee; D Mahalanabis; K N Jalan; T K Maitra; S K Agarwal; B Dutta; S P Khatua; D K Bagchi

    1978-01-01

    The paper describes the first controlled trial of an oral glucose electrolyte solution designed on the basis of the optimum pathophysiological needs for rehydration in infantile diarrahoea. The solution, having a sodium concentration of 50 mmol\\/l, was tried in a group of 20 infants with moderate to severe dehydration due to acute diarrhoea and was compared with a matched group

  15. A Handheld Wireless Device for Diffuse Optical Spectroscopic Assessment of Infantile Hemangiomas

    E-print Network

    Hielscher, Andreas

    A Handheld Wireless Device for Diffuse Optical Spectroscopic Assessment of Infantile Hemangiomas hemangiomas (IH) are common vascular growths that occur in 5-10% of neonates and have the potential to cause the utility of DOI for IH. Keywords: diffuse optical spectroscopy, wireless, handheld, hemangiomas 1

  16. Malignant pseudomyxoma peritonei of colonic origin

    Microsoft Academic Search

    Paul H. Sugarbaker; Kenneth Kern; Ernest Lack

    1987-01-01

    Pseudomyxoma peritonei is an unusual malignancy arising from the goblet cells of the large bowel or appendix. Its characteristic\\u000a clinical features are low histologic grade of malignancy and widespread dissemination throughout the abdominal cavity. In\\u000a a clinical study of 14 patients, the most common initial symptoms were abdominal distention or right lower quadrant pain suggestive\\u000a of appendicitis. All patients underwent

  17. Renal involvement in children with malignancies

    Microsoft Academic Search

    R. Rossi; Robert Kleta; Jochen H. H. Ehrich

    1999-01-01

    Renal complications in children with malignancies primarily arise from renal parenchymal tumors, ”tumor lysis syndrome,”\\u000a and malignant infiltration or obstruction of the urinary tract. Therapy-associated renal side effects may develop following\\u000a surgical and cytostatic treatment or be induced by radiotherapy. Clinically, both acute renal failure, for example following\\u000a cisplatin, or chronic dysfunction, following ifosfamide and resulting in growth failure, are

  18. Primary malignant melanoma of the esophagus

    PubMed Central

    Jora, Charu; Pankaj, Promila; Verma, Ritu; Jain, Anjali; Belho, Ethel S.

    2015-01-01

    Primary malignant melanoma most commonly originates from the skin; other less common extra cutaneous sites include squamous mucous membranes, uvea, retina, leptomeninges, genitourinary tract, digestive tract, biliary tract, and upper respiratory tract. Primary melanoma of the gastrointestinal tract is exceedingly rare. We are reporting a histo-pathologically proven rare case of primary malignant melanoma of the esophagus and its findings on fluorodeoxyglucose positron emission tomography and computed tomography.

  19. Primary malignant melanoma of the esophagus.

    PubMed

    Jora, Charu; Pankaj, Promila; Verma, Ritu; Jain, Anjali; Belho, Ethel S

    2015-01-01

    Primary malignant melanoma most commonly originates from the skin; other less common extra cutaneous sites include squamous mucous membranes, uvea, retina, leptomeninges, genitourinary tract, digestive tract, biliary tract, and upper respiratory tract. Primary melanoma of the gastrointestinal tract is exceedingly rare. We are reporting a histo-pathologically proven rare case of primary malignant melanoma of the esophagus and its findings on fluorodeoxyglucose positron emission tomography and computed tomography. PMID:25829739

  20. Golimumab and malignancies: true or false association?

    Microsoft Academic Search

    Ines Zidi; Aicha Bouaziz; Wissem Mnif; Aghleb Bartegi; Nidhal Ben Amor

    2011-01-01

    Malignancy is one of the comorbidities linked to golimumab, a biological TNF-? blocker. In this systematic review and meta-analysis,\\u000a we searched different databases and analyzed original publications to elucidate the remaining open question about the real\\u000a association of malignancies with golimumab therapy. The most frequent cancer in patients treated with golimumab, in association\\u000a or not with methotrexate, is the lung

  1. Malignant pleural mesothelioma in Italy.

    PubMed

    Bianchi, Claudio; Bianchi, Tommaso

    2009-08-01

    This study reviews a series of 811 malignant pleural mesothelioma cases, diagnosed at hospitals in Trieste and Monfalcone districts of north eastern Italy, a narrow coastal strip with a population of about three lakh, in the period 1968-2008. The diagnosis was based on histological examination in 801 cases, and cytological findings in 10. Necropsy was performed in 610 cases. Occupational histories were obtained directly from the patients or their relatives through personal or telephone interviews. Routine lung sections were examined for asbestos bodies in 500 cases. In 143 cases asbestos bodies were isolated and counted by chemical digestion of the lung tissue using the Smith-Naylor method. The series included 717 men and 94 women aged between 32 and 93 years (mean 69.2 years). Detailed occupational data was obtained for 732 cases.The majority of patients had marine jobs - shipbuilding (449 cases), maritime trades (56 cases), and port activities (39 cases). The nature of work of other patients included a variety of occupations, with non-shipbuilding industries being the most common. Thirty-four women cleaned the work clothes of family members occupationally exposed and hence had a history of asbestos exposure at home. Most of the patients had their first exposure to asbestos before 1960. The latency period ranged between 13 and 73 years (mean 48.2). Latency period among insulators and dock workers were shorter than other categories. Asbestos bodies were detected on routine lung sections in 343 cases (68.6%). Lung asbestos body burdens after isolation ranged between two to 10 millions bodies per gram of dried tissue. Despite some limitations in the use of asbestos in this area since the 1970s, the incidence of tumor remained high during the last years. PMID:20386624

  2. Incidence and Overall Survival of Malignant Ameloblastoma

    PubMed Central

    Rizzitelli, Alexandra; Smoll, Nicolas R.; Chae, Michael P.; Rozen, Warren M.; Hunter-Smith, David J.

    2015-01-01

    Background Malignant ameloblastoma, comprising metastasizing ameloblastoma and ameloblastic carcinoma, represents 1.6–2.2% of all odontogenic tumors. Due to its rare nature, malignant ameloblastoma has only been reported in the literature in small case series or case reports. Using the Surveillance, Epidemiology and End-Results (SEER) database, we have performed a population-based study to determine the incidence rate and the absolute survival of malignant ameloblastoma. Method Using the International Classification of Diseases for Oncology (ICD-O) codes 9310/3 and 9270/3, data from the SEER database were used to calculate the incidence rate and absolute survival rate of population with malignant ameloblastoma. Results The overall incidence rate of malignant ameloblastoma was 1.79 per 10 million person/year. The incidence rate was higher in males than females and also higher in black versus white population. The median overall survival was 17.6 years from the time of diagnosis and increasing age was associated with a statistically significant poorer survival. Conclusions To our best knowledge, we report the largest population-based series of malignant ameloblastoma. The incidence rate was 1.79 per 10 million person/year and the overall survival was 17.6 years. PMID:25692490

  3. Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations.

    PubMed

    Case, Laura E; Beckemeyer, Alexandra A; Kishnani, Priya S

    2012-02-15

    Enzyme replacement therapy (ERT) with alglucosidase alpha, approved by the FDA in 2006, has expanded possibilities for individuals with Pompe disease (glycogen storage disease type II, GSDII, or acid maltase deficiency). Children with infantile Pompe disease are surviving beyond infancy, some achieving independent walking and functional levels never before possible. Individuals with late-onset Pompe disease are experiencing motor and respiratory improvement and/or stabilization with slower progression of impairments. A new phenotype is emerging for those with infantile Pompe disease treated with ERT. This new phenotype appears to be distinct from the late-onset phenotype rather than a shift from infantile to late-onset phenotype that might be expected from a simple diminution of symptoms with ERT. Questions arise regarding the etiology of the distinct distribution of weakness in this new phenotype, with increasing questions regarding exercise and musculoskeletal management. Answers require an increased understanding of the muscle pathology in Pompe disease, how that muscle pathology may be impacted by ERT, and the potential impact of, and need for, other clinical interventions. This article reviews the current state of knowledge regarding the pathology of muscle involvement in Pompe disease and the potential change in muscle pathology with ERT; the newly emerging musculoskeletal and gross motor phenotype of infantile Pompe disease treated with ERT; updated recommendations regarding musculoskeletal management in Pompe disease, particularly in children now surviving longer with residual weakness impacting development and integrity of the musculoskeletal system; and the potential impact and role of exercise in infantile Pompe survivors treated with ERT. PMID:22252989

  4. Definitions of Single and Subsequent Primaries for Hematologic Malignancies

    Cancer.gov

    While it is recognized that some malignancies occur predominantly (or even exclusively) in liquid or solid form, because so many malignancies can potentially arise as either leukemias or lymphomas (or both), all hematopoietic malignancies are assumed to have this potential. 2. Malignancies of the lymphoid series are considered to be different from those of the myeloid series.

  5. Collecting and Storing Malignant, Borderline Malignant Neoplasms, and Related Samples From Young Patients With Cancer

    ClinicalTrials.gov

    2014-08-21

    Acute Undifferentiated Leukemia; Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative; Childhood Acute Lymphoblastic Leukemia; Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies; Childhood Chronic Myelogenous Leukemia; Chronic Lymphocytic Leukemia; Hairy Cell Leukemia; Juvenile Myelomonocytic Leukemia; Mast Cell Leukemia; Neoplasm of Uncertain Malignant Potential; Prolymphocytic Leukemia; Secondary Acute Myeloid Leukemia; T-cell Large Granular Lymphocyte Leukemia; Unspecified Childhood Solid Tumor, Protocol Specific

  6. Malignant peripheral nerve sheath tumour (malignant schwannoma) in the diaphragm of a goat.

    PubMed

    Ramírez, G A; Herráez, P; Rodríguez, F; Godhino, A; Andrada, M; Espinosa de los Monteros, A

    2007-01-01

    This report describes a malignant schwannoma in the diaphragm of a 2-year-old goat. The immunohistochemical and histological features indicated a diagnosis of malignant schwannoma rather than neurofibrosarcoma. The diaphragm represents an unusual location for neoplasia in both domestic animals and human beings. A possible anatomical origin from the phrenic nerve is discussed. PMID:17645892

  7. Pulmonary infantile hemangioma presenting as a mass in a premature male infant: a case report focusing on pathological features.

    PubMed

    Siaghani, Parwiz J; Chavez, Claire; Anselmo, Dean M; Shane, Lisa

    2015-01-01

    Infantile hemangiomas are the most common benign neoplasm of infancy, with most occurring in the head and neck region. Predisposing factors include prematurity, low birth weight, multiple gestations, advanced maternal age, and chorionic villous sampling. In addition, white women, particularly those with a family history, are also at a higher risk. However, pulmonary infantile hemangiomas are exceedingly rare, with only a few case reports in the literature. Infantile hemangiomas should be considered in the differential diagnosis of a pulmonary mass in the early pediatric population. We present a case of pulmonary infantile hemangioma in a premature male infant successfully managed by surgical excision, with an emphasis on the pathogenesis and histologic features. PMID:25360560

  8. Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity

    Microsoft Academic Search

    Utcharee Intusoma; Fadell Hayeeduereh; Thanya Sripo; Punnee Vasiknanonte; Supachai Janjindamai; Apasri Lusawat; Sasipa Thammongkol; Anannit Visudtibhan; Pornprot Limprasert

    2011-01-01

    PurposesTo perform CDKL5 mutation screening in Thai children with cryptogenic infantile intractable epilepsy and to determine the clinical sensitivity of CDKL5 screening when different inclusion criteria were applied.

  9. Evaluation of Pre-Malignant and Malignant Lesions in Cervico Vaginal (PAP) Smears by Nuclear Morphometry

    PubMed Central

    Rani M.N, Divya; Kumar ML, Harendra; SR, Sheela

    2014-01-01

    Background: Cervical cancer is the second most common cancer occurring among women worldwide, with almost half a million new cases each year. Normal cells gradually transform to form cancer cells through several stages. So, the changes occurring during the transformational stages need to be assessed. Aim: Our aim was to study various nuclear parameters useful in evaluating pre-malignant and malignant cervico-vaginal pap smears. Materials and Methods: Bethesda System was used to categorize cervical pap smears into premalignant and malignant lesions. Nuclear parameters were calculated using J 1.44C morphometric software. Several nuclear size parameters were analysed. Results: The nuclear area, perimeter, diameter were found to be statistically significant (p<0.05) parameters in differentiating premalignant from malignant cervical smears. Conclusion: Nuclear morphometry was thus a useful objective tool in differentiating premalignant from malignant cervical smears. PMID:25584229

  10. Malignant phyllode tumor metastatic to the duodenum

    PubMed Central

    Asoglu, Oktar; Karanlik, Hasan; Barbaros, Umut; Yanar, Hakan; Kapran, Yersu; Kecer, Mustafa; Parlak, Mesut

    2006-01-01

    Phyllode tumor (PT) is extremely rare tumor of the breast. Distant metastasis occurs in 10-20% of patients with malignant phyllode tumor. The most common sites of metastases are the lungs and bones. Although theoretically any organ may have metastasis, an isolated duodenum metastasis has not been documented as yet in the English-language literature. We report herein a case with a isolated duodenal metastasis from PT of breast in a 31 year-old-woman who underwent right mastectomy 4 years before because of the recurrent malignant PT. She presented to our hospital with massive upper gastrointestinal bleeding. Clinical evaluation revealed a huge mass originated from duodenum. Urgent laparotomy and pancreaticoduodenectomy were carried out in order to remove the bleeding duodenal mass. The pathologic examination of the resected specimen showed a malignant spindle cell tumor consistent with metastatic malignant PT. Our case of gastrointestinal bleeding due to an isolated duodenal metastasis as a result of hematogenous spread from malignant phyllode tumor of breast is unique in the English literature and pancreaticoduodenectomy is a curative treatment for patients with isolated duodenal involvement. PMID:16570365

  11. Malignant mesenterial mesothelioma in stroke patients.

    PubMed

    Budiyasa, Dewa Gde Agung; Wibawa, I Dewa Nyoman

    2008-10-01

    Mesothel is the cell lining of serosal surface of the pleura, peritoneum, pericardium, and testis. Malignant mesothelioma is a highly aggressive tumor from mesothel that has a tendency to grow rapidly and invade locally. Although the incidence of malignant mesenterial mesothelioma is not so high, the case fatality rate is very high. The aim of this case report is to report the rare and difficult case with several complications. A Balinese man, 64 years old, came with chief complaint of weakness, abdominal enlargement, and nausea, with history of previous liver disease. On physical examination were found a decrease of conciousness, subfebrile, abdominal distension, ascites, negative traube space, and paralysis of the left side of the body. Laboratory examination results showed leukocytosis, hypochromic-micrositic anemia, trombocytosis, hypoalbuminemia, increase of alkaline phosphatase, and mild hyponatremia. Abdominal USG showed intraperitoneal mass which some of them attach to abdominal wall, possibly from mesenterium and ascites, esophagogastroduodenoscopy (EGD) revealed reflux esofagitis and anthral erossive gastritis, skull CT scan showed small infarction at left parietal medulla and right basal ganglia, cytology showed spreaded and grouped mesothel with reactive lymphocyte and amorph back ground. FNAB result showed malignant mesothelioma, and normal colonoscopy. Based on the above data, the diagnoses were malignant mesenterial mesothelioma, reflux esofagitis and anthral erossive gastritis, and non hemorrhagic stroke. Malignant mesenterial mesothelioma should be considered in patient with the combination of unexplained ascites and abdominal pain. Although the result of treatment is very disappointing, the patient had to be treated optimally to increase quality of life. PMID:19151450

  12. Asbestos exposure and malignant mesothelioma in Korea.

    PubMed

    Lee, Kyoung-Ho; Yoon, Hyung-Suk; Choi, Sang-Jun; Kang, Daehee

    2009-01-01

    Although importation of asbestos to Korea has decreased, there are growing concerns of its hazardous effects. This paper describes the use and occupational exposure to asbestos, and the incidence and mortality of malignant mesotheliomas in Korea. Asbestos raw material imports from other countries peaked between 1990 and 1995, but importation of asbestos-containing and -processed materials has steadily increased until now. A comprehensive exposure survey was conducted in Korea between 1995 and 2006. The average airborne asbestos concentration was lower than from other countries and steadily decreased during the study period. The number of malignant mesothelioma cases in Korea was 48 in 1998, 39 in 1999, 45 in 2000, 38 in 2001, and 46 in 2002. There were 334 deaths due to malignant mesothelioma and an average of 30.4 deaths per year between 1996 and 2006. The number of deaths attributed to malignant mesothelioma ranged from 16 cases in 1999 to 57 cases in 2006. The magnitude of asbestos-related health problems in Korea has been underestimated due to under-diagnosis, incomplete reports, and shorter duration of exposure. A nationwide surveillance system for asbestos exposure and malignant mesothelioma should therefore be implemented. PMID:19827900

  13. Neuroleptic malignant syndrome induced by lamotrigine.

    PubMed

    Ishioka, Masamichi; Yasui-Furukori, Norio; Hashimoto, Kojiro; Sugawara, Norio

    2013-01-01

    This case report describes a 54-year-old man with bipolar I disorder who was treated with aripiprazole (ARP) and lithium. The patient was admitted to our hospital because of aggravation of depressive symptoms, and treatment with lamotrigine (LTG) was initiated. Two weeks after admission, we discontinued administration of ARP after the appearance of a tremor. Three weeks after discontinuing ARP, the patient developed a high fever, rigidity of the arms, diarrhea, dysphagia, and diaphoresis. We suspected these symptoms were consistent with neuroleptic malignant syndrome and therefore removed the application of LTG. After 2 days, most of the patient's symptoms and blood results had improved, leading us to conclude that the LTG treatment had induced neuroleptic malignant syndrome. Thus, the purpose of this case report was to warn psychiatrists against therapy with LTG, as it may be conducive to neuroleptic malignant syndrome. PMID:23783003

  14. Pretargeted Radioimmunotherapy for Hematologic and Other Malignancies

    PubMed Central

    Press, Oliver W.; Pagel, John M.

    2010-01-01

    Summation Radioimmunotherapy (RIT) has emerged as one of the most promising treatment options, particularly for hematologic malignancies. However, this approach has generally been limited by a suboptimal therapeutic index (target-to-nontarget ratio) and an inability to deliver sufficient radiation doses to tumors selectively. Pretargeted RIT (PRIT) circumvents these limitations by separating the targeting vehicle from the subsequently administered therapeutic radioisotope, which binds to the tumor-localized antibody or is quickly excreted if unbound. A growing number of preclinical proof-of-principle studies demonstrate that PRIT is feasible and safe and provides improved directed radionuclide delivery to malignant cells compared with conventional RIT while sparing normal cells from nonspecific radiotoxicity. Early phase clinical studies corroborate these preclinical findings and suggest better efficacy and lesser toxicities in patients with hematologic and other malignancies. With continued research, PRIT-based treatment strategies promise to become cornerstones to improved outcomes for cancer patients despite their complexities. PMID:20423225

  15. Aberrant DNA methylation in malignant melanoma

    PubMed Central

    Schinke, Carolina; Mo, Yongkai; Yu, Yiting; Amiri, Kathy; Sosman, Jeff; Greally, John; Verma, Amit

    2010-01-01

    Malignant Melanoma remains one of the most deadly human cancers with no effective cures for metastatic disease. The poor efficacy of current therapy in advanced melanoma highlights the need for better understanding of molecular mechanisms contributing to the disease. Recent work has shown that epigenetic changes, including aberrant DNA methylation, lead to alterations in gene expression and are as important in the development of malignant melanoma as the specific and well characterized genetic events. Reversion of these methylation patterns could thus lead to a more targeted therapy and are currently under clinical investigation. The purpose of this review is to compile recent information on aberrant DNA methylation of melanoma, to highlight key genes and molecular pathways in melanoma development that have found to be epigenetically altered and to provide insight as of how DNA methylation might serve as targeted treatment option as well as a molecular and prognostic marker in malignant melanoma. PMID:20418788

  16. Malignant mastocytosis with circulating mast cells.

    PubMed

    Torrey, E; Simpson, K; Wilbur, S; Munoz, P; Skikne, B

    1990-08-01

    A case of malignant mastocytosis with peripheral blood involvement is presented. The course of the patient's illness was complicated by recurrent hypotensive episodes, presumed to have been caused by mast cell degranulation. Treatment with hydroxyurea was associated with persistent hypotension which resulted in death. It has been proposed that the diagnosis of mast cell leukemia be given to patients presenting with greater than 10% atypical mast cells in the blood. However, review of 16 published cases of malignant mastocytosis with circulating mast cells reveals that the clinical manifestations, complications, and survival do not vary significantly with the percentage of peripheral blood mast cells. Patients with malignant mastocytosis with significant involvement by atypical mast cells in the bone marrow and peripheral blood should be considered as having an aggressive disease, regardless of the percentage of circulating mast cells. PMID:2114786

  17. Giant Malignant Phyllodes Tumour of Breast

    PubMed Central

    Krishnamoorthy, Ramakrishnan; Savasere, Thejas; Prabhuswamy, Vinod Kumar; Babu, Rajashekhara; Shivaswamy, Sadashivaiah

    2014-01-01

    The term phyllodes tumour includes lesions ranging from completely benign tumours to malignant sarcomas. Clinically phyllodes tumours are smooth, rounded, and usually painless multinodular lesions indistinguishable from fibroadenomas. Percentage of phyllodes tumour classified as malignant ranges from 23% to 50%. We report a case of second largest phyllodes tumour in a 35-year-old lady who presented with swelling of right breast since 6 months, initially small in size, that progressed gradually to present size. Examination revealed mass in the right breast measuring 36×32?cms with lobulated firm surface and weighing 10?kgs. Fine needle aspiration cytology was reported as borderline phyllodes; however core biopsy examination showed biphasic neoplasm with malignant stromal component. Simple mastectomy was done and specimen was sent for histopathological examination which confirmed the core biopsy report. Postoperatively the patient received chemotherapy and radiotherapy. The patient is on follow-up for a year and has not shown any evidence of metastasis or recurrence. PMID:25548696

  18. Primary Gastric Malignant Melanoma Mimicking Adenocarcinoma

    PubMed Central

    Cho, Jun-Min; Lee, Chang Min; Jang, You-Jin; Park, Sung-Soo; Park, Seong-Heum; Kim, Seung-Joo; Mok, Young-Jae; Kim, Chong-Suk; Lee, Ju-Han

    2014-01-01

    We report a case of primary gastric malignant melanoma that was diagnosed after curative resection but initially misdiagnosed as adenocarcinoma. A 68-year-old woman was referred to our department for surgery for gastric adenocarcinoma presenting as a polypoid lesion with central ulceration located in the upper body of the stomach. The preoperative diagnosis was confirmed by endoscopic biopsy. We performed laparoscopic total gastrectomy, and the final pathologic evaluation led to the diagnosis of primary gastric malignant melanoma without a primary lesion detected in the body. To the best of our knowledge, primary gastric malignant melanoma is extremely rare, and this is the first case reported in our country. According to the literature, it has aggressive biologic activity compared with adenocarcinoma, and curative resection is the only promising treatment strategy. In our case, the patient received an early diagnosis and underwent curative gastrectomy with radical lymphadenectomy, and no recurrence was noted for about two years. PMID:25580362

  19. [Chemotherapy for malignant gliomas: an update].

    PubMed

    Wakabayashi, Toshihiko; Natsume, Atsushi; Fujii, Masazumi

    2013-10-01

    Gliomas account for approximately 30% of all brain tumors and are thus the most common primary tumors of the central nervous system (CNS). Despite treatment with aggressive surgical resection, chemotherapy, and radiotherapy, high-grade (WHO grades III and IV) malignant gliomas, especially glioblastoma (GBM), the most common glioma in adults, kill patients within a median time span of a year after diagnosis. In Japan, alkylating agents such as 1-(4-amino-2-methyl-5-pyridiminyl) methyl-3-(2-chloroethyl)-3-nitrosourea (ACNU) and methyl-6-[3-(2-chloroethyl)-3-nitrosoureido]-6-deoxy-alpha-D-glucopyranoside (MCNU) have been used to treat malignant gliomas for a long time; however, this treatment provides few clinical benefits. Temozolomide (TMZ), an oral alkylating agent, has been demonstrated to possess antitumor activity against malignant gliomas with minimal additional toxicity; furthermore, a previous study found that treatment with TMZ significantly prolonged median survival time. In 2006, TMZ was certified as the treatment agent for malignant gliomas by the National Ministry of Health and Welfare of Japan. It is now used as first-line therapy. However, its clinical outcomes depend on the O6-methylguanine-DNA methyltransferase (MGMT) status, and MGMT modification is one of the key factors to deriving greater clinical benefits in the future. Combination therapy with TMZ and other antitumor drugs, especially anti-vascular endothelial growth factor (VEGF) antibody (Avascin), has been aggressively investigated for treating gliomas. Some of these drugs have been studied in experimental animal models and advanced to clinical trials. These studies suggest that combination therapy with TMZ and other antitumor drugs might further improve the clinical outcome of malignant gliomas as compared to TMZ plus radiotherapy. Based on these data, the next step will be to carry out phase II to III clinical studies to improve treatment of malignant brain tumors further. PMID:24105052

  20. [Four cases of malignant primary breast lymphoma].

    PubMed

    Ishihara, Sae; Kashiwagi, Shinichiro; Asano, Yuka; Morisaki, Tamami; Noda, Satoru; Kawajiri, Hidemi; Takashima, Tsutomu; Onoda, Naoyoshi; Ohsawa, Masahiko; Hirakawa, Kosei

    2014-11-01

    Primary malignant lymphoma of the breast (PBL) is comparatively rare in Japan.Herein, the authors present report 4 cases of PBL. All patients had the primary finding of a palpable left breast mass.Malignant lymphoma was strongly suspected by core needle biopsy, and final diagnosis was made on surgical specimens. All cases were diffuse large B-cell lymphoma and were treated with targeted chemotherapy with R-CHOP. Only 1 of the 4 patients needed multidisciplinary therapy due to advanced age.Whenever PBL is suspected, targeted therapy should be considered. PMID:25731383

  1. Cutaneous Manifestations of Internal Malignant Disease

    PubMed Central

    McLean, David I.

    1987-01-01

    The skin can provide clues to the well-being of our patients. Some skin changes, such as hypertrichosis lanuginosa acquisita or erythema gyratum repens, are so specific that there is a virtual certainty of internal malignancy. Other changes, such as severe pruritus, are significant management problems in late-stage lymphoma and leukemia. Still others, such as herpes zoster in a cancer patient in remission, may be a marker for recurrent malignant disease. This review will discuss many of the skin changes associated with systemic cancer. ImagesFigure 1Figure 2Figure 3Figure 4Figure 5 PMID:21263960

  2. Ultrasonographic thyroid findings suspicious for malignancy.

    PubMed

    Azar, Nami; Lance, Craig; Nakamoto, Dean; Michael, Claire; Wasman, Jay

    2013-12-01

    Asymptomatic incidental thyroid nodules (thyroid incidentalomas) are found in up to a third of the adult population. There is notable overlap in the sonographic appearance of benign and malignant thyroid nodules. This paper provides a brief review of the ultrasound findings of thyroid nodules that are suspicious for malignancy with pathologic correlates. We then discuss the standard approach to a fine needle aspiration biopsy of a thyroid nodule at our institution. Finally, we review specific diagnostic challenges in image guided fine needle aspiration biopsies. PMID:24254202

  3. Micro-RNAs in Hematologic Malignancies

    Microsoft Academic Search

    Muller Fabbri; George A. Calin

    \\u000a Micro-RNAs (miRNAs) are small noncoding RNAs with gene regulatory functions. Abnormal expression of miRNAs distinguishes normal\\u000a from tumoral tissues in both solid and hematological malignancies. These aberrations parallel abnormal expression of miRNA\\u000a target genes, which ultimately are responsible for the development of the malignant phenotype. Intriguingly, miRNAs expression\\u000a levels are variable during normal hematopoiesis, revealing that their up\\/downregulation is required

  4. Targeting apoptosis pathways in childhood malignancies.

    PubMed

    Fulda, Simone

    2013-05-28

    Evasion of apoptosis (programmed cell death) is a characteristic feature of human cancers including childhood malignancies. Since cytotoxic therapies such as chemotherapy or radiotherapy trigger apoptosis as a primary mechanism of action, resistance to apoptosis can also lead to treatment resistance. Studies on apoptosis pathways in childhood malignancies yielded a series of key molecules that can now be exploited as molecular targets for the development of targeted therapies. This strategy is anticipated to open novel perspectives for more effective treatment options for children with cancer. PMID:21036468

  5. Malignant otitis externa with skull base osteomyelitis

    PubMed Central

    Illing, E; Zolotar, M; Ross, E; Olaleye, O; Molony, N

    2011-01-01

    Malignant otitis externa associated with skull base osteomyelitis is a condition seen classically in the elderly, diabetic patient. This disease is difficult to manage, often requiring long-term antibiotic therapy. Here we present such a case, seen in a 74- year-old lady. Initially, she was treated for a number of years in the outpatient department with intermittent ear complaints, but eventually required a hospital admission that lasted for 6 months due to a severe malignant otitis externa complicated by skull base osteomyelitis. We will discuss the clinical features, diagnostic criteria, imaging and management of this life-threatening clinical entity. PMID:24950586

  6. [Modern diagnostic approaches to malignant hyperthermia susceptibility].

    PubMed

    Kazantseva, A A; Lebedinski?, K M

    2014-01-01

    Malignant hyperthermia is a well-known rare life-threatening autosomal-dominant pharmacogenetic disease, The arti- cle deals with a halothane-caffeine contracture test. The test is a model of muscle reaction to triggers in-vitro and it is the "golden standard" for malignant hyperthermia susceptibility (MHS) diagnosis. Genetic analysis is less invasive, but its sensitivity is significantly lower. The review discusses both the methods which are essential to be completely reproduced in Russia, and their role in modern approach to MHS diagnosis. PMID:25549489

  7. Malignant transformation in 5071 southern Taiwanese patients with potentially malignant oral mucosal disorders

    PubMed Central

    2014-01-01

    Background Oral cancers can be preceded by clinically evident oral potentially malignant disorders (OPMDs). The current study evaluated the rate and the time of malignant transformation in the various OPMDs in a cohort of patients from southern Taiwan. Parameters possibly indicative for malignant transformation of OPMDs, such as epidemiological and etiological factors, and clinical and histopathological features were also described. Methods We followed-up 5071 patients with OPMDs—epithelial dysplasia with oral submucous fibrosis, epithelial dysplasia with hyperkeratosis/epithelial hyperplasia, hyperkeratosis/epithelial hyperplasia, oral submucous fibrosis, lichen planus, and verrucous hyperplasia—between 2001 and 2010 for malignant transformation. Results Two hundred nineteen of these 5071 OPMD patients (202 men, 17 women; mean age: 51.25 years; range: 30–81 years) developed oral cancers (179 squamous cell carcinomas; 40 verrucous carcinomas) in the same sites as the initial lesions at least 6 months after their initial biopsies. The overall transformation rate was 4.32% (mean duration of transformation: 33.56 months; range: 6–67 months). Additionally, the mean time of malignant transformation was significantly shorter for lesions with than without epithelial dysplasia. The risk of malignant transformation was 1.89 times higher for epithelially dysplastic than non-dysplastic lesions. The anatomical site of OPMD and the presence of epithelial dysplasia were significantly associated with malignant transformation. The hazard rate ratio was 1.87 times larger for tongue lesions than for buccal lesions. Conclusion Patients with OPMDs require long-term follow up. PMID:25096230

  8. Comparison of four malignancy risk indices in the detection of malignant ovarian masses

    PubMed Central

    Karaca, R?za Efendi; Alanbay, ?brahim; Dede, Murat; Kara?ahin, Emre; Yenen, Müfit Cemal; Ba?er, ?skender

    2011-01-01

    Objective The aim of this study was to evaluate the ability of four risk of malignancy indices (RMI) to detect malignant ovarian tumors. Methods This is a prospective study of 100 women admitted to the Department of Obstetrics and Gynecology of Gulhane Military Medicine Academy for surgical exploration of pelvic masses. To diagnose malignant ovarian tumors, the sensitivity, specificity, negative and positive predictive values and diagnostic accuracy of four RMIs (RMI 1, RMI 2, RMI 3, and RMI 4) were obtained. Results In our study we found that there is no statistically significant difference in the performance of four different RMIs in discriminating malignancy. We think that malignancy risk indices is more reliable than the menopausal status, serum CA-125 levels, ultrasound features and tumor size separately in detecting malignancy. Conclusion We concluded that any of the four malignancy risk indices described can be used for selection of cases for optimal therapy. These methods are simple techniques that can be used even in less-specialized gynecology clinics to facilitate the selection of cases for referral to an oncological unit. PMID:21998760

  9. [Successful treatment with prednisone in a critical ill newborn with symptomatic multifocal infantile hepatic hemangioendothelioma].

    PubMed

    Miranda, Miurkis Endis; Villamil Martínez, Ramón; Thomas Olivares, Pastor Alexander; Trujillo Gálvez, Juan Jose

    2013-10-01

    Infantile hepatic hemangioendothelioma is the most common vascular tumor of the liver in infancy. The diagnosis can be enunciated without histological defnition, if the clinical, analytical and images fndings are very suggestive; particularly in children less than six months old, because the biopsy is not exempt of complications. We report a female patient, four days old and 3500 g, who developed a hypovolemic shock as a complication of the biopsy from a multifocal infantile hepatic hemangioendothelioma. She developed clinical manifestations of cardiac failure and thrombocytopenia. Because of the critical clinical status we choose the medical treatment with prednisone which was administered for fve month and complete remission of the tumor was obtained. We highlight the Doppler ultrasonography as a safe and no invasive diagnosis method. Management of this disease is commented as well. PMID:24092041

  10. [Management of infantile cataracts: surgical technics and choices in lens implantation].

    PubMed

    Thouvenin, D

    2011-03-01

    Management of congenital or infantile cataracts benefited from progresses realized in adult surgery. It stays however specific to children's eyes and is incorporated in a global therapeutic strategy. It must be guided by a pediatric ophthalmogical team used to this kind of treatment. We report here, function of the type of cataract, uni or bilateral, congenital or infantile, the choice of the timing of surgery, of the therapeutic strategy, parental information, and preoperative evaluation. The actual standard of surgery is bimanual phacoaspiration with posterior capsulorhexis and anterior vitrectomy. It is described step by step. Indication of lens implantation, choice of the type and power of IOL function of age of the child is described, be it for initial or secondary lens implantation. PMID:21392844

  11. Interneuron, Interrupted: Molecular Pathogenesis of ARX Mutations and X-linked Infantile Spasms

    PubMed Central

    Olivetti, Pedro R.; Noebels, Jeffrey L.

    2012-01-01

    X-linked Infantile Spasms Syndrome (ISSX) is a catastrophic epilepsy of early childhood with intractable seizures, intellectual disability, and poor prognosis. A spectrum of mutations in the Aristaless-Related Homeobox gene (ARX) has been linked to ISSX, and downstream targets of this interneuron-expressed transcription factor are being defined. Recent advances combining in vitro and in vivo methods have unveiled complex interactions between Arx and its binding partners and their effects on cell migration and maturation that can help explain the diversity of ARX phenotypes. New mutant mouse models of Arx-induced pathology, including a recent human triplet-repeat expansion mutation with a phenotype of infantile spasms and electrographic seizures, provide valuable tools for exploring the pathophysiology of Arx and substrates for testing novel therapies. PMID:22565167

  12. Neonatal estradiol stimulation prevents epilepsy in Arx model of X-linked infantile spasms syndrome.

    PubMed

    Olivetti, Pedro R; Maheshwari, Atul; Noebels, Jeffrey L

    2014-01-22

    Infantile spasms are a catastrophic form of pediatric epilepsy with inadequate treatment. In patients, mutation of ARX, a transcription factor selectively expressed in neuronal precursors and adult inhibitory interneurons, impairs cell migration and causes a major inherited subtype of the disease X-linked infantile spasms syndrome. Using an animal model, the Arx((GCG)10+7) mouse, we determined that brief estradiol (E2) administration during early postnatal development prevented spasms in infancy and seizures in adult mutants. E2 was ineffective when delivered after puberty or 30 days after birth. Early E2 treatment altered mRNA levels of three downstream targets of Arx (Shox2, Ebf3, and Lgi1) and restored depleted interneuron populations without increasing GABAergic synaptic density. Postnatal E2 treatment may induce lasting transcriptional changes that lead to enduring disease modification and could potentially serve as a therapy for inherited interneuronopathies. PMID:24452264

  13. Prenatal and postnatal risk factors for infantile pneumonia in a representative birth cohort.

    PubMed

    Chen, C H; Wen, H J; Chen, P C; Lin, S J; Chiang, T L; Hsieh, I C; Guo, Y L

    2012-07-01

    Pneumonia is an important cause of mortality and morbidity in infants. However, information of risk factors for pneumonia in children aged <6 months is limited. This study aimed to evaluate the risk factors and their contribution to infantile pneumonia in a large population-based survey. Of 24,200 randomly sampled main caregivers invited, 21,248 (87.8%) participated in this study. A structured questionnaire was used to interview the main caregivers. Information regarding whether hospitalization was required, family environment, and medical history were obtained. The prevalence of pneumonia was 0.62% in our study cohort. Multivariate logistic regression analysis showed that preterm birth, congenital cardiopulmonary disease, antibiotic use during pregnancy, maternal overweight, daily prenatal exposure to environmental tobacco smoke, maternal smoking during pregnancy, and visible mould on walls at home are risk factors associated with infantile pneumonia. Further study is warranted to investigate the causality and mechanisms of these novel factors. PMID:21920066

  14. Neonatal Estradiol Stimulation Prevents Epilepsy in Arx Model of X-Linked Infantile Spasms Syndrome

    PubMed Central

    Olivetti, Pedro R.; Maheshwari, Atul; Noebels, Jeffrey L.

    2014-01-01

    Infantile spasms are a catastrophic form of pediatric epilepsy with inadequate treatment. In patients, mutation of ARX, a transcription factor selectively expressed in neuronal precursors and adult inhibitory interneurons, impairs cell migration and causes a major inherited subtype of the disease X-linked infantile spasms syndrome. Using an animal model, the Arx(GCG)10+7 mouse, we determined that brief estradiol (E2) administration during early postnatal development prevented spasms in infancy and seizures in adult mutants. E2 was ineffective when delivered after puberty or 30 days after birth. Early E2 treatment altered mRNA levels of three downstream targets of Arx (Shox2, Ebf3, and Lgi1) and restored depleted interneuron populations without increasing GABAergic synaptic density. Postnatal E2 treatment may induce lasting transcriptional changes that lead to enduring disease modification and could potentially serve as a therapy for inherited interneuronopathies. PMID:24452264

  15. Successful Treatment of Severe Infantile Hyperekplexia With Low-Dose Clobazam

    Microsoft Academic Search

    Wendy A. Stewart; Ellen P. Wood; Kevin E. Gordon; Peter R. Camfield

    2002-01-01

    We report two cases of severe infantile hyperekplexia successfully treated with low-dose clobazam. The first case presented at 6 weeks of age with multiple episodes consisting of difficulty diapering because of stiffness and loud inspiratory noises followed by breath-holding in inspiration. She was diagnosed with hyperekplexia and started on clonazepam 0.05 mg daily. This was discontinued because of excessive sleepiness.

  16. The presence of two different infantile Tay-Sachs disease mutations in a Cajun population

    Microsoft Academic Search

    G. A. McDowell; M. G. Blitzer; E. H. Mules; P. Fabacher; E. Shapira

    1992-01-01

    A study was undertaken to characterize the mutation(s) responsible for Tay-Sachs disease (TSD) in a Cajun population in southwest Louisiana and to identify the origins of these mutations. Eleven of 12 infantile TSD alleles examined in six families had the [beta]-hexosaminidase A (Hex A) [alpha]-subunit exon 11 insertion mutation that is present in approximately 70% of Ashkenazi Jewish TSD heterozygotes.

  17. Substrate reduction therapy in the infantile form of Tay-Sachs disease.

    PubMed

    Bembi, B; Marchetti, F; Guerci, V I; Ciana, G; Addobbati, R; Grasso, D; Barone, R; Cariati, R; Fernandez-Guillen, L; Butters, T; Pittis, M G

    2006-01-24

    Substrate reduction therapy (SRT) with miglustat has been proposed for treatment of some lysosomal storage disorders. Based on the positive experience in Gaucher disease and experimental data in Tay-Sachs (TSD) and Sandhoff animal models, the authors investigated the clinical efficacy of SRT in two patients with infantile TSD. SRT could not arrest the patients' neurologic deterioration. However, a significant drug concentration in CSF as well as macrocephaly prevention were observed. PMID:16434676

  18. Diverging racial trends in neonatal infantile hemangioma diagnoses, 1979-2006.

    PubMed

    Amrock, Stephen M; Weitzman, Michael

    2013-01-01

    Nationally representative historical trends in neonatal infantile hemangioma (IH) diagnosis have not been previously assessed. Using the National Hospital Discharge Survey (NHDS), trends in IH diagnoses were assessed according to race and sex. Findings confirmed prior research that female and white newborns are more likely to be diagnosed with IH, and a statistically significant increase in IH diagnoses was observed in white, but not in nonwhite, infants. PMID:23331036

  19. Congenital heart disease is a feature of severe infantile spinal muscular atrophy

    Microsoft Academic Search

    S Rudnik-Schöneborn; R Heller; C Berg; C Betzler; T Grimm; T Eggermann; K Eggermann; R Wirth; B Wirth; K Zerres

    2008-01-01

    Objective:Homozygous deletions\\/mutations of the SMN1 gene cause infantile spinal muscular atrophy (SMA). The presence of at least one SMN2 gene copy is required for normal embryogenesis. Lack of SMN protein results in degeneration of motor neurons, while extraneuronal manifestations have been regarded as a chance association with SMA. We report on heart defects in the subgroup of congenital SMA type

  20. Pedagogia e a formação de professores(as) de Educação Infantil

    Microsoft Academic Search

    Tizuko Morchida Kishimoto

    2005-01-01

    * Resumo: O texto analisa o Curso de Pedagogia e a formaÁªo do professor(a) de EducaÁªo Infantil, tendo como base 12 cursos de Pedagogia da rede privada no Brasil. Questiona, ‡ luz dos recentes estudos sobre a profissionalizaÁªo no campo da formaÁªo de professor, a falta de especificidade da formaÁªo docente, pela adoÁªo de perfis hÌbridos; com a formaÁªo conjugada

  1. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

    Microsoft Academic Search

    Jouni Vesa; Elina Hellsten; Linda A. Verkruyse; Laura A. Camp; Juhani Rapola; Pirkko Santavuori; Sandra L. Hofmann; Leena Peltonen

    1995-01-01

    NEURONAL ceroid lipofuscinoses (NCL) represent a group of common progressive encephalopathies of children which have a global incidence of 1 in 12,500 (ref. 1). These severe brain diseases are divided into three autosomal recessive subtypes, assigned to different chromosomal loci2á¤-4. The infantile subtype of NCL (INCL), linked to chromosome 1p32, is characterized by early visual loss and rapidly progressing mental

  2. Effects of propranolol and isoproterenol on infantile hemangioma endothelial cells in vitro

    PubMed Central

    ZHU, YALIN; TUERXUN, AERZIGULI; HUI, YAN; ABLIZ, PARIDE

    2014-01-01

    The aim of the present study was to investigate the effects of propranolol and isoproterenol on the growth curve of infantile hemangioma endothelial cells (IHECs) in vitro and determine the functions of the ?-adrenergic receptor in the pathogenesis of infantile hemangioma. IHECs were divided into three groups: The control group, the propranolol group (PG) and the isoproterenol group (IG). The PG and IG were administered with high, medium and low concentrations of the corresponding drugs. The cell growth in each group was determined using the MTT assay. A high propranolol concentration resulted in the inhibition of cell growth. By comparison, isoproterenol promoted cell growth. Within a specific time-frame (72–96 h), high drug concentrations (20 ?g/ml) elicited strong effects on the cells. At certain concentrations, propranolol inhibited cell growth once the proliferation stage of IHECs had been affected for a specific length of time, whereas isoproterenol yielded opposite results. The ?-adrenergic receptor elicits an important effect in the pathogenesis of infantile hemangioma. PMID:25009634

  3. Use of the modified Atkins diet in infantile spasms refractory to first-line treatment.

    PubMed

    Sharma, Suvasini; Sankhyan, Naveen; Gulati, Sheffali; Agarwala, Anuja

    2012-01-01

    This prospective, open label, uncontrolled study was performed to evaluate the efficacy and tolerability of the modified Atkins diet in children with refractory infantile spasms. Fifteen consecutive children aged six months to three years having daily infantile spasms in clusters with electroencephalographic evidence of hypsarrhythmia despite treatment with hormonal treatment (oral corticosteroids/adrenocorticotrophic hormone) and/or vigabatrin, and at least one additional anti-epileptic drug were enrolled. Children with known or suspected inborn errors of metabolism or systemic illnesses were excluded. Carbohydrate intake was restricted to ten grams/day. Among these 12 boys and three girls (median age-24 months), 13 had symptomatic etiology. After three months of diet, six children were spasm free. The time to spasm freedom after diet initiation ranged from two days to two months. The most frequent adverse effect observed was constipation. The modified Atkins diet was found to be effective and well tolerated in children with refractory infantile spasms (ClinicalTrials.gov identifier: NCT01006811). PMID:21920781

  4. A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping.

    PubMed Central

    Haider, N B; Carmi, R; Shalev, H; Sheffield, V C; Landau, D

    1998-01-01

    A novel type of infantile nephronophthisis was identified in an extended Bedouin family from Israel. This disease has an autosomal recessive mode of inheritance, with the phenotypic presentation ranging from a Potter-like syndrome to hyperechogenic kidneys, renal insufficiency, hypertension, and hyperkalemia. Affected individuals show rapid deterioration of kidney function, leading to end-stage renal failure within 3 years. Histopathologic examination of renal tissue revealed variable findings, ranging from infantile polycystic kidneys to chronic tubulointerstitial nephritis, fibrosis, and cortical microcysts. A known familial juvenile nephronophthisis locus on chromosome 2q13 and autosomal recessive polycystic kidney disease on chromosome 6p21.1-p12 were excluded by genetic linkage analysis. A genomewide screen for linkage was conducted by searching for a locus inherited by descent in all affected individuals. Pooled DNA samples from parents and unaffected siblings and individual DNA samples from four affected individuals were used as PCR templates with trinucleotide- and tetranucleotide-repeat polymorphic markers. Using this approach, we identified linkage to infantile nephronophthisis for markers on chromosome 9q22-31. The disorder maps to a 12.9-cM region flanked by markers D9S280 and GGAT3G09. PMID:9792867

  5. Growth impairment and growth hormone-IGF-1 axis in infantile anorexia nervosa.

    PubMed

    Ghione, Silvia; Maestro, Sandra; Dati, Eleonora; Silvestri, Virginia; Baroncelli, Giampiero I; Bertelloni, Silvano

    2014-08-15

    Abstract Background: Infantile anorexia nervosa (AN) is a specific eating disorder of prepubertal children. Poor data are available on growth hormone (GH)-insulin-like growth factor 1 (IGF-1) axis in this disorder. Patient report: We report on a boy (4.5 years) with progressive growth impairment. At psychiatric assessment (DC: 0-3 R, AXIS I), he fulfilled all required criteria for diagnosis of infantile AN. Endocrine evaluation suggested impaired peripheral response to GH (high GH and low IGF-1 levels), likely related to energy deficiency. Methods: Auxological evaluation was shown as raw data and SDS using Italian reference values. GH secretion was assessed by arginine provocative test; IGFI generation test was done administering recombinant GH (0.05 mg/kg/day for four days). Psychiatric assessment was performed according to the DC:0-3R protocol. Conclusion: Impaired GH-IGF-1 axis may be involved in growth delay of children with infantile AN. A strict collaboration between endocrine pediatricians and child psychiatrists is advisable in the assessment of poor growing children without recognizable organic causes, showing normal/high GH levels and low IGF-1 values. PMID:25153569

  6. Moderate size infantile haemangioma of the neck – conservative or surgical treatment? : a case report

    PubMed Central

    Hussain, Abdulzahra; Mahmood, Hind; Almusawy, Hussein

    2008-01-01

    Introduction Infantile haemangioma is the commonest benign tumour in infancy. While the management of the majority of small haemangiomas consists of simply watching or steroid treatment, giant and moderate size infantile haemangiomas are challenging problems, especially in health systems with limited resources in developing countries. Case presentation A one-year old boy was presented to us by his parents with a moderate size haemangioma on the posterior triangle of the left side of the neck. Clinical assessment and radiological examinations were helpful in confirming the diagnosis. Surgical excision was performed successfully without major morbidity. Partial necrosis of the skin flap developed shortly after the operation but healing was complete in eight weeks. There was no residual problem on review five years after the operation. Conclusion Early surgical excision of a moderate size infantile haemangioma may be justified especially when there is difficulty of follow-up, which can be a common problem in developing countries. This approach will prevent growth deformation, impact on nearby vital organs and psychological problems. PMID:18284695

  7. [Catamnestic study of children hospitalized with the diagnosis of Kanner's infantile autism].

    PubMed

    Stárková, L; Zmrzlíková, L

    1989-08-01

    Kanner's infantile autism is conceived as a psychosis of early childhood manifested clinically as schizophrenic syndrome with dominating extreme spontaneous isolation of the child (autism). The authors attempted a catamnestic investigation of 20 patients where their diagnosis was made during hospitalization. In 17 cases it was possible to confirm this diagnosis after a certain time interval, in two patients oligophrenia was confirmed and only in one child disharmonious personality development. In patients with a confirmed diagnosis of Kanner's infantile autism the actual psychopathology of rational abilities was tested (a defective intellect was confirmed in all investigated children), social relations of the patients and the level of speech development. Attention was also paid to psychopharmacotherapy. The majority of junior patients, but only four of the senior patients, are in families. Senior patients and sometimes also preschool children with partial speech development are in social care institutions where the defect of the disease proper is potentiated by negative aspects of the asylum. Kanner's infantile autism is a serious disease which affects the entire mental development of the child, not only the emotional development. In the sphere of therapy, and in particular psychopharmacotherapy, much remains to be done, psychiatric intervention is frequently only at the diagnostic and follow-up level of the disease. PMID:2805123

  8. A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease.

    PubMed

    Wang, Zhaohui; Okamoto, Patricia; Keutzer, Joan

    2014-02-01

    Pompe disease is caused by a deficiency of acid ?-glucosidase (GAA; EC, 3.2.1.20), and the infantile-onset form is rapidly fatal if left untreated. However, recombinant human GAA (rhGAA) enzyme replacement therapy (ERT) extends survival for infantile Pompe patients. Although cross-reactive immunologic material (CRIM)-negative patients, who lack detectable endogenous GAA, mount an immune response to rhGAA that renders the therapy ineffective, timely induction of immune tolerance in these patients may improve clinical outcomes. Previously, CRIM status has been determined by Western blot analysis in cultured skin fibroblasts, a process that can take a few weeks. We present a blood-based CRIM assay that can yield results within 48 to 72 h. Results from this assay have been confirmed by GAA Western blot analysis in fibroblasts or by GAA sequencing in a small number of Pompe disease patients. Rapid classification of CRIM status will assist in identifying the most effective treatment course and minimizing treatment delays in patients with infantile-onset Pompe disease. PMID:24044919

  9. Clinicopathological study of three cases of infantile fibromatosis of the orbit.

    PubMed

    Hayashi, Kengo; Katori, Nobutada; Otsuki, Yoshiro; Ohno-Matsui, Kyoko

    2014-10-01

    We report the clinical and pathological findings in three infants with infantile fibromatosis that involved several extraocular muscles which led to disorders of ocular motility. We also describe their clinical features before and after surgery. This was a retrospective interventional case study with clinicopathological correlations. We present three cases of infantile fibromatosis that were diagnosed by clinical features and histopathlogical examination of biopsy specimens. The three patients were all female children aged 1, 3, and 3 years at their initial visit. The orbital tumor was unilateral in all patients. All three patients had disorders of ocular motility because the tumors involved ?2 extraocular muscles. The margins between the tumor and the involved extraocular muscles were not distinct. We performed partial resection of the tumors to preserve the extraocular muscles. In all cases, the tumors partially remained, but periodic postoperative magnetic resonance imaging showed no enlargement of the tumors during the follow-up period. All three patients had residual limitations of eye movements. We should consider the postoperative binocular function when we treat infantile benign fibrous tumors involving the extraocular muscles. PMID:24535563

  10. Successful treatment of oral itraconazole for infantile hemangiomas: A case series.

    PubMed

    Ran, Yuping; Chen, Shuang; Dai, Yalin; Kang, Daoxian; Lama, Jebina; Ran, Xin; Zhuang, Kaiwen

    2015-02-01

    Infantile hemangiomas can present a therapeutic challenge to clinicians, especially when associated with severe pain and feeding difficulties. The standard therapeutic management includes corticosteroids and propranolol. However, the clinical response is not always satisfactory. We present six cases of infantile hemangiomas successfully treated with oral itraconazole approximately 5 mg/kg per day. In the first month, the red color of the lesions became a little lighter and the growth of the lesions was controlled in all cases. An obvious clinical improvement was noted in all cases during the 3-month period, with 80-100% improvement in each patient at the end of the treatment, which was judged by both their parents and the dermatologists. Compliance with treatment instructions of oral itraconazole in infants was judged to be very good. Side-effects were mild and limited. Although itraconazole can inhibit angiogenesis and tumor growth in vitro and in vivo associated with some cancers, further research is required to understand the pathogenesis of infantile hemangiomas and the mechanism of itraconazole. PMID:25512128

  11. Anatomoclinical aspects of conjunctival malignant metastatic melanoma.

    PubMed

    Costea, Claudia Florida; Anghel, Kreolla; Dimitriu, Gabriela; Dumitrescu, Gabriela Floren?a; Faiyad, Ziyad; Dumitrescu, Ana Maria; Sava, Anca

    2014-01-01

    Conjunctival malignant melanoma is a rare tumor with a high risk of local recurrence, lymph node and systemic metastases. The aim of this study was to correlate tumor thickness, tumor ulceration, high mitotic rate, epithelioid cells with the presence of metastases and death from conjunctival malignant melanoma. We report the case of a 33-year-old patient who presented with a left eyelid ptosis associated with an eyelid prominence, foreign body sensation in the eye, and bloody discharge, symptoms occurring about one month earlier. Ophthalmologic examination revealed in eyelid conjunctiva two vegetant and ulcerative tumors of 8/6 mm and 3/3 mm. The two tumors were surgically removed with safety margins. The diagnosis of amelanotic malignant melanoma of the conjunctiva with brain metastasis was made by routine morphological methods and immunohistochemical reactions (HMB45, vimentin, S100 protein). Systemic metastases (skin, brain, lung, liver, kidney, peritoneal) and peripancreatic lymph node metastases were detected at 1.9 years after the diagnosis of conjunctival malignant melanoma. The patient died three months after the surgical excision of brain metastasis. Early diagnosis is essential to prevent tumor recurrence, ocular invasion, systemic and lymph node metastases, and preserving visual function. PMID:25329123

  12. Primary malignant melanoma of the uterine cervix.

    PubMed

    Owens, O J; Pollard, K; Khoury, G G; Dyson, J E; Jarvis, G J; Joslin, C A

    1988-05-01

    A case of primary malignant melanoma of the uterine cervix is presented. It demonstrates the histological findings at both light and electron microscopy, the unusual flow cytofluorometric analysis, the clinical response to irradiation and the rapid dissemination of the tumour. PMID:3396293

  13. Malignancy in scars, chronic ulcers, and sinuses

    PubMed Central

    Cruickshank, A. H.; McConnell, E. Mavis; Miller, D. G.

    1963-01-01

    A collection of 44 cases of malignancy in scars, chronic ulcers, and sinuses, included the following predisposing lesions: a 20-year-old sinus from ischial bursitis, a 23-year-old bed sore, a congenital gumma about 50 years old, three burn scars (average age of scar 56 years), 11 sinuses from chronic osteomyelitis, and 27 chronic ulcers of the leg. The osteomyelitis cases included two rapidly fatal sarcomas, one in a sinus present for 16 years, the other in a 20-year-old sinus. The remaining tumours in this group were squamous carcinomas that developed in sinuses with an average duration of 37 years. In the cases of varicose ulcer, the ulcer had been present on the average for 21 years before the onset of malignancy. One patient in this group, with an ulcer not known to be more than five years old, developed a sarcoma that was fatal in six months. The biopsy diagnosis was difficult in 17 cases, including one of the cases of sarcoma. The difficulty was greatest in cases of osteomyelitis. The conditions discussed are now known as `Marjolin's ulcer'. In the present series, the degree of malignancy in tumours arising in scars may be low but the malignancy of tumours arising in chronic ulcers and sinuses may be high. Images PMID:14076377

  14. Malignant phyllodes tumor of the left atrium

    PubMed Central

    Bhambhani, Anupam; Ayyagari, Sudha; Mohapatra, Tushar; Rehman, Syed Abdul; Shah, Milap; Rao, Sudhakar; Rangashamanna, Vital; Rajasekhar, V.; Chittimilla, Santosh

    2014-01-01

    Metastatic tumors to the heart usually involve right sided chambers. We report a rare case of malignant phyllodes tumor of breast with metastatic involvement of left atrium occurring through direct invasion from mediastinal micro-metastasis and presenting as a left atrial mass causing arrhythmia. PMID:24814127

  15. Clinicopathologic analysis of malignant melanoma in Taiwan

    Microsoft Academic Search

    Yi-Ju Chen; Chun-Ying Wu; Jung-Ta Chen; Jui-Lung Shen; Chien-Chou Chen; Hsi-Ching Wang

    1999-01-01

    Background: Malignant melanoma is the leading cause of death among skin cancers in western countries. However, the incidence, histologic subtypes, and tumor behaviors are quite different in Asians and people of color. Objective: Our purpose was to define the tumor behaviors and possible prognostic predictors of melanomas based on a Taiwanese patient population. Methods: From the 65 patients diagnosed with

  16. Hyperparathyroidism After Irradiation for Childhood Malignancy

    SciTech Connect

    McMullen, Todd; Bodie, Greg [University of Sydney Endocrine Surgical Unit, Sydney, NSW (Australia); Gill, Anthony [Department of Anatomical Pathology, Royal North Shore Hospital and University of Sydney, Sydney, NSW (Australia); Ihre-Lundgren, Catharina [University of Sydney Endocrine Surgical Unit, Sydney, NSW (Australia); Shun, Albert [Department of Surgery, Children's Hospital at Westmead, Sydney (Australia); Bergin, Mary [Late Effects Oncology Clinic, Children's Hospital at Westmead, Sydney (Australia); Stevens, Graham [Oncology Service, Auckland Hospital, Auckland (New Zealand); Delbridge, Leigh [University of Sydney Endocrine Surgical Unit, Sydney, NSW (Australia)], E-mail: leighd@med.usyd.edu.au

    2009-03-15

    Purpose: To examine the occurrence of hyperparathyroidism in a cohort of patients undergoing combined parathyroid and thyroid surgery after previous head-and-neck irradiation for childhood malignancy. Methods and Materials: This is a retrospective cohort study for the years 1996 to 2007. The study group comprised patients undergoing surgery in University of Sydney Endocrine Surgical Unit who had received previous head-and-neck irradiation in childhood and who were identified as having pathologic thyroid and parathyroid characteristics. Results: A total of 53 patients were identified in whom head-and-neck irradiation for the treatment of childhood malignancy had been documented. In each of the cases, thyroid disease was the primary reason for referral for surgery. Five of these patients (10%) were found to exhibit coexisting hyperparathyroidism. The latency period for hyperparathyroidism was less than 20 years in 4 of the 5 cases. There were four conventional parathyroid adenomas and one parathyroid lipoadenoma. All patients exhibited a significant decrease in postoperative calcium levels after surgery. Conclusions: To our knowledge, this is the first study to document the significant risk of hyperparathyroidism after radiation exposure for childhood malignancy. The timeframe for development of disease is much shorter than that published for individuals who have undergone irradiation for benign diseases. High doses of therapeutic radiation at a young age make childhood survivors of malignancy at especially high risk for developing hyperparathyroidism.

  17. Virotherapy against malignant glioma stem cells

    Microsoft Academic Search

    Mahua Dey; Ilya V. Ulasov; Maciej S. Lesniak

    2010-01-01

    Glioblastoma multiforme, the most common primary intracranial malignancy, is associated with very poor outcome despite advances in surgical techniques and chemo- and radiation therapy. Many novel treatment modalities are being investigated with varying amount of success. Evolution of cancer stem cell hypothesis provides a new venue for developmental therapeutics. In this review, we highlight the literature regarding the existence of

  18. Malignant Syphilis in a HIV Infected Patient.

    PubMed

    Jalili, Ahmad; Mosleh, Martin; Grabmeier-Pfistershammer, Katharina; Loewe, Robert; Stingl, Georg; Rieger, Armin

    2015-04-01

    We present a 47 year old female white HIV-1 infected patient with multiple painless rupioid skin lesions, a CD4 count of 155 cells/mm3, positive syphilis serology and a histopathology conspicuous for malignant syphilis. She could be successfully treated with Benzathine-Benzylpenicillin (Retarpen®) 2,4 Mega I.E., 3x intramuscularly in weekly intervals. PMID:25763666

  19. A case report of neuroleptic malignant syndrome.

    PubMed

    Kuchibatla, Shankar Srinivas; Cheema, Sofia Akram; Chakravarthy, Kripa S; Sayeh, Hany George El

    2009-01-01

    A 32-year-old male patient with a history of treatment resistant paranoid schizophrenia developed neuroleptic malignant syndrome (NMS) during changeover of his antipsychotic medication from zuclopenthixol depot to clozapine. This case highlights the difficulties of cross-tapering two antipsychotics-that is, converting from a typical depot medication to an oral atypical antipsychotic. PMID:21686818

  20. Malignant phyllodes tumor of the left atrium.

    PubMed

    Bhambhani, Anupam; Ayyagari, Sudha; Mohapatra, Tushar; Rehman, Syed Abdul; Shah, Milap; Rao, Sudhakar; Rangashamanna, Vital; Rajasekhar, V; Chittimilla, Santosh

    2014-01-01

    Metastatic tumors to the heart usually involve right sided chambers. We report a rare case of malignant phyllodes tumor of breast with metastatic involvement of left atrium occurring through direct invasion from mediastinal micro-metastasis and presenting as a left atrial mass causing arrhythmia. PMID:24814127

  1. Malignant histiocytosis in a cat - Case report

    Microsoft Academic Search

    Maria E. Trost; Adriano T. Ramos; Eduardo K. Masuda; Bruno L. dos Anjos; Marina G. M. C. M. Cunha; Dominguita L. Graça

    2008-01-01

    A crossbred 14-year-old castrated male cat had a history of lethargy, anorexia and weight loss of one month evolution. On clinical examination, anemia, emaciation, jaundice and a large mass in the abdomen were detected. Ultrasonography revealed hepatomegaly and a single splenic mass. The cat was submitted to biopsy and euthanatized during the surgical procedure. The diagnosis of malignant histiocytosis was

  2. Tensional homeostasis and the malignant phenotype

    Microsoft Academic Search

    Matthew J. Paszek; Nastaran Zahir; Kandice R. Johnson; Johnathon N. Lakins; Gabriela I. Rozenberg; Amit Gefen; Cynthia A. Reinhart-King; Susan S. Margulies; Micah Dembo; David Boettiger; Daniel A. Hammer; Valerie M. Weaver

    2005-01-01

    Summary Tumors are stiffer than normal tissue, and tumors have altered integrins. Because integrins are mechanotransducers that regulate cell fate, we asked whether tissue stiffness could promote malignant behavior by modulating integrins. We found that tumors are rigid because they have a stiff stroma and elevated Rho-dependent cytoskeletal tension that drives focal adhesions, disrupts adherens junctions, perturbs tissue polarity, enhances

  3. Therapeutic options for recurrent malignant glioma

    Microsoft Academic Search

    Maximilian Niyazi; Axel Siefert; Silke Birgit Schwarz; Ute Ganswindt; Friedrich-Wilhelm Kreth; Jörg-Christian Tonn; Claus Belka

    2011-01-01

    Background and purpose: Despite the given advances in neuro-oncology most patients with high grade malignant glioma ultimately fail locally or locoregionally. In parallel with improvements of initial treatment options, several salvage strategies have been elucidated and already entered clinical practice. Aim of this article is to review the current status of salvage strategies in recurrent high grade glioma. Material and

  4. Clinical Immunologic Responsiveness in Malignant Disease

    Microsoft Academic Search

    M. Al-Sarraf; S. Sardesai; V. K. Vaitkevicius

    1972-01-01

    Patients with nonresectable and advanced malignant disease had marked suppression of delayed type of hypersensitivity to different antigens in vivo, and showed marked impairment of the response of their lymphocytes cultured in vitro with phytohemagglutinin. This suppression was significant as compared to hospitalized non-cancer patients. There were no differences in response to lymphocyte stimulation with PHA in different primary sites

  5. Advances in optical adjunctive AIDS for visualisation and detection of oral malignant and potentially malignant lesions.

    PubMed

    Bhatia, Nirav; Lalla, Yastira; Vu, An N; Farah, Camile S

    2013-01-01

    Traditional methods of screening for oral potentially malignant disorders and oral malignancies involve a conventional oral examination with digital palpation. Evidence indicates that conventional examination is a poor discriminator of oral mucosal lesions. A number of optical aids have been developed to assist the clinician to detect oral mucosal abnormalities and to differentiate benign lesions from sinister pathology. This paper discusses advances in optical technologies designed for the detection of oral mucosal abnormalities. The literature regarding such devices, VELscope and Identafi, is critically analysed, and the novel use of Narrow Band Imaging within the oral cavity is also discussed. Optical aids are effective in assisting with the detection of oral mucosal abnormalities; however, further research is required to evaluate the usefulness of these devices in differentiating benign lesions from potentially malignant and malignant lesions. PMID:24078812

  6. Advances in Optical Adjunctive Aids for Visualisation and Detection of Oral Malignant and Potentially Malignant Lesions

    PubMed Central

    Bhatia, Nirav; Lalla, Yastira; Vu, An N.; Farah, Camile S.

    2013-01-01

    Traditional methods of screening for oral potentially malignant disorders and oral malignancies involve a conventional oral examination with digital palpation. Evidence indicates that conventional examination is a poor discriminator of oral mucosal lesions. A number of optical aids have been developed to assist the clinician to detect oral mucosal abnormalities and to differentiate benign lesions from sinister pathology. This paper discusses advances in optical technologies designed for the detection of oral mucosal abnormalities. The literature regarding such devices, VELscope and Identafi, is critically analysed, and the novel use of Narrow Band Imaging within the oral cavity is also discussed. Optical aids are effective in assisting with the detection of oral mucosal abnormalities; however, further research is required to evaluate the usefulness of these devices in differentiating benign lesions from potentially malignant and malignant lesions. PMID:24078812

  7. Stages of Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies

    MedlinePLUS

    ... Clinical Trials NCI Publications Español Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies Treatment (PDQ®) Stages of Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies Key Points for This ...

  8. Treatment Option Overview (Ovarian Low Malignant Potential Tumors)

    MedlinePLUS

    ... types of treatment for patients with ovarian low malignant potential tumor. Different types of treatment are available for patients with ovarian low malignant potential tumor . Some treatments are standard (the currently ...

  9. What Should You Ask Your Doctor about Malignant Mesothelioma?

    MedlinePLUS

    ... for malignant mesothelioma? What should you ask your doctor about malignant mesothelioma? As you cope with cancer ... need to have honest, open discussions with your doctor. You should feel free to ask any question, ...

  10. What's New in Malignant Mesothelioma Research and Treatment?

    MedlinePLUS

    ... Next Topic Additional resources for malignant mesothelioma What’s new in malignant mesothelioma research and treatment? There is ... drug that has shown promise in studies. . Other new drugs have different targets. For example, some new ...

  11. What Are the Key Statistics about Malignant Mesothelioma?

    MedlinePLUS

    ... factors for malignant mesothelioma? What are the key statistics about malignant mesothelioma? Mesothelioma is fairly rare. About ... mesothelioma can be found in the section, “ Survival statistics for mesothelioma .” Last Medical Review: 12/19/2013 ...

  12. [Problems of diagnosis and prevention of occupational malignancies].

    PubMed

    Petruk, Yu A; Miloutka, E V; Karavayeva, O V; Shimanskaya, T G; Ivanova, F A

    2013-01-01

    The authors presented statistics on quantity of registered occupational malignancies in Russian Federation and some foreign countries, analyzed causes of difficult diagnosis of occupational malignancies, suggested ways to improve the situation. PMID:24745178

  13. [Own experience in the treatment of infantile haemangiomas with propranolol - preliminary results.

    PubMed

    Przewratil, Przemys?aw; Sitkiewicz, Anna; Kierzkowska, Beata; Lewandowska, Magdalena; Lewandowska, Ma?gorzata; Andrzejowska, Ewa

    2011-01-01

    Background: Infantile haemangiomas are the most common vascular tumours in children. Since 2008 the application of propranolol has been a promising therapy in the management of haemangiomas. Aim of the study: Analysis of the patients with infantile haemangiomas treated with propranolol. Material and methods: Between June 2009 and December 2010 in Department of Pediatric Surgery and Oncology Medical University of Lodz, 35 children with infantile haemangiomas (29 females and 6 males) were treated with propranolol. Therapy was initiated in age of 2-15 months (mean 4.5). All infantile haemangiomas were in a proliferative phase. In 27 children lesions were located in the head and neck, 2 of them were located in the orbital region and 3 penetrated into the orbit. In 5 children haemangiomas were located in the trunk, with 3 in the perineum and 3 in limbs. In 2 children the PHACE Syndrome was diagnosed. In one of these cases exploratory laparatomy revealed jejunal haemangiomatosis. The indication for propranolol application was impairment of physiological functions in 23 cases, cosmetic defect in 8 and ulceration in 4. The duration of treatment was 4 to 12 months (mean 7.5-months). The change of haemangioma volume, density and colour were evaluated. Reduction of ? haemangioma volume was assessed as very good response, 1/3 as good response, and 1/4 as poor. Results: In 7 patients therapy has been finished. In all cases decrease in density, volume and fading was observed. Very good result was achieved in 27 patients, good in 5, poor in 3. Recurrence of haemangioma appeared in two patients after termination of treatment. A spectacularly good result was achieved in the child with PHACE syndrome and in one with jejunal haemangiomatosis. Conclusions: Propranolol therapy is safe and effective in children with infantile proliferating haemangiomas. It can be the treatment of choice in cases with impairment of physiological functions or severe cosmetic defect. Election and therapy of the children should be carried out in highly reference centres. PMID:22253126

  14. Stromal myofibroblasts in potentially malignant and malignant lesions of the oral cavity

    PubMed Central

    RODRIGUES, PRISCILA CAMPIONI; DA COSTA MIGUEL, MÁRCIA CRISTINA; DE AQUINO, SIBELE NASCIMENTO; FONSECA, FELIPE PAIVA; SILVA, ALAN ROGER DOS SANTOS; LEME, ADRIANA FRANCO PAES; COLETTA, RICARDO D.

    2015-01-01

    Previous studies have demonstrated that myofibroblasts in the adjacent stroma are involved in the development and progression of malignant tumors. The aim of this study was to investigate the involvement of myofibroblasts in the progression of oral squamous cell carcinomas (OSCCs) by determining myofibroblast density in potentially malignant and malignant oral lesions. A total of 69 potentially malignant oral lesions (leukoplakias with mild, moderate or severe dysplasia), 90 OSCCs (well-, moderately and poorly differentiated), eight oral verrucous carcinomas and 29 fibrous hyperplasias were examined for the presence of myofibroblasts using immunohistochemical detection of isoform ? of smooth muscle actin. Myofibroblasts were not identified in the adjacent stroma of fibrous hyperplasias and potentially malignant oral lesions, whereas 59.8% of the oral carcinomas exhibited myofibroblasts in various densities. The density was significantly higher in moderately and poorly differentiated OSCCs when compared with well-differentiated tumors (P=0.04 and P=0.007, respectively). In verrucous carcinomas, the specific variant of well-differentiated OSCC, stromal myofibroblasts were not detected. The results of the present study demonstrated that immunodetection of myofibroblasts does not aid with the determination of the malignant transformation potential of oral dysplasias, although moderately and poorly differentiated tumors exhibited a significantly higher density of myofibroblasts. The results reinforce the hypothesis that myofibroblasts may contribute to oral tumorigenesis, indicating that verification and monitoring of such may serve as a putative marker of OSCC behavior. PMID:25621035

  15. Endosonographic differentiation of benign and malignant stromal cell tumors

    Microsoft Academic Search

    Amitabh Chak; Marcia Irene Canto; Thomas Rösch; Hans J. Dittler; Robert H. Hawes; T. Lok Tio; Charles J. Lightdale; H. Worth Boyce; James Scheiman; Steve L. Carpenter; Jacques Van Dam; Michael L. Kochman; Michael V. Sivak

    1997-01-01

    Background: Endosonography (EUS) is a valuable technique for diagnosing gastrointestinal stromal cell tumors. However, EUS features that are predictive of malignancy in these tumors have not been defined. Methods: Videotapes and photographs of EUS examinations performed prior to surgical resection of 35 stromal cell tumors (9 malignant) were blindly reviewed by a single examiner. EUS features associated with malignancy were

  16. Symptoms Associated with Malignant Wounds: A Prospective Case Series

    Microsoft Academic Search

    Vincent Maida; Marguerite Ennis; Craig Kuziemsky; Linda Trozzolo

    2009-01-01

    A significant proportion of cancer patients develop malignant wounds. Malignant wounds are generally nonhealable and are managed with palliative methods. Palliative wound care encompasses the pain and symptom management of such wounds. Sixty-seven of 472 cancer patients from a prospective sequential case series of palliative medicine consultations demonstrated malignant wounds at the time of referral and were studied to determine

  17. Some Benign and Malignant Neoplasms of Michigan Cottontail Rabbits

    Microsoft Academic Search

    L. D. FAY; Center Route

    Neoplasms were found in 19 of 170 cottontail rabbits (Sylvilagus floridanus mearnsii) necropsied at the Wildlife Pathology Laboratory, Michigan Department of Conservation, 1950-1956. Nine tumors were benign; eight fibromas and one lipoma. Six malignant lymphomas, one nephroblastoma and three undiagnosed but apparently malignant tumors, also were found. Of particular interest is the high ratio of malignant to benign neoplasms. Gross

  18. Multiple cutaneous and hepatic infantile hemangiomas having a successful response to propranolol as monotherapy at neonatal period.

    PubMed

    Cavalli, R; Novotna, V; Buffon, R B; Gelmetti, C

    2013-10-01

    Infantile hepatic hemangioma (IHH) is a common liver tumors of infancy with a higher incidence in females. Various treatments for infantile hepatic hemangioma such as systemic corticosteroids, interferon-alpha, vincristine and cyclophosphamide have been suggested, though no consensus exists about the first-choice treatment. Recent evidences suggest that propranolol, a nonselective ?-blocker, may be effective and safe as first-line therapy for infantile hepatic hemangioma. We report a case of female born at term with a weight of 2.450 g started to develop multiple cutaneous IHs at 10 days of age and presenting concomitant multiple cutaneous and hepatic infantile hemangiomas confirmed on magnetic resonance imaging. Propranolol, used as monotherapy, was started at 14 days of age at a dose of 2 mg/kg/day orally and maintained for 6 months. Patient was monitored in the hospital during first days of treatment with propranolol, and discharged after no side-effects were detected. Hepatic and cutaneous lesions had complete resolution in three months, although the fibro-fatty residuum of largest cutaneous nodule was still palpable at month 6. A further control after 6 months showed no recurrences. Our report case suggests that propranolol can be a safe and effective first-line therapy for neonates with concomitant multiple cutaneous and hepatic infantile hemangiomas. PMID:24005146

  19. Proyecto Piloto de Producción de una Compota de Zapallo como una opción para mejorar la nutrición infantil de los niños de la ciudad de Guayaquil

    Microsoft Academic Search

    Jenny Guananga; Adriana Guerrero; Marco Tulio Mejia; Económicas ICHE

    The World Program of Foods indicates that the hunger and the nutrition bad cause infantile mortality, in the Ecuador, the rate of infantile mortality in the County of the Guayas is of 21.5%, while in the country this value increases dramatically to 27,7%. To eradicate the poverty it is necessary to take a short cut the hunger and the nutrition

  20. Lower gastrointestinal malignancy in Crohn's disease.

    PubMed Central

    Connell, W R; Sheffield, J P; Kamm, M A; Ritchie, J K; Hawley, P R; Lennard-Jones, J E

    1994-01-01

    An increased incidence of carcinoma of the small bowel and colon has been described in patients with Crohn's disease. Tumours arising in the rectum and anus are reported less often. Between 1940 and 1992, of some 2500 patients with Crohn's disease seen at this hospital, 15 are known to have developed carcinoma of the lower gastrointestinal tract. Malignancy occurred in the colon in two patients, in the upper two thirds of rectum in one, in the lower third of rectum in seven, and in the anus in five. The 12 patients with carcinoma arising in the anus or lower rectum had longstanding severe anorectal Crohn's disease, which included a stricture in four, fistula in four, proctitis in one, abscess in two, and enlarged anal skin tags in one. The development of malignancy in patients with Crohn's disease may apply particularly to those with chronic complicated anorectal disease. Images Figure 1 Figure 2 PMID:8150345

  1. [Malignant insulinoma: recommendations for workup and treatment].

    PubMed

    Baudin, Eric; Caron, Philippe; Lombard-Bohas, Catherine; Tabarin, Antoine; Mitry, Emmanuel; Reznick, Yves; Taieb, David; Pattou, François; Goudet, Pierre; Vezzosi, Delphine; Scoazec, Jean-Yves; Cadiot, Guillaume; Borson-Chazot, Françoise; Do Cao, Christine

    2014-06-01

    Insulinoma are malignant in 4 to 14 % of cases. Their rarity and the sparse data available in the literature have limited publication of specific guidelines for their management. The following review aim to provide up-to-date recommendations on initial evaluation including pathologic grading, measures to control hypoglycemia, antitumor strategies and long term follow-up. Will be discussed in detail respective indications of surgery, diazoxide, somatostatin analogs, everolimus, sunitinib, liver directed treatments including arterial embolization, chemotherapy and radiometabolic therapy. A Medline search using terms "insulinoma", "neuroendocrine pancreatic tumors", "islet cell carcinoma", "malignant insulinoma" was performed limiting the selection to English language articles and adult age cases, along with cross referencing. PMID:24857257

  2. Adoptive cellular immunotherapy for childhood malignancies.

    PubMed

    Cooper, L J N

    2008-01-01

    Clinical trials have established that T cells have the ability to prevent and treat pathogens and tumors. This is perhaps best exemplified by engraftment of allogeneic T cells in the context of hematopoietic stem-cell transplantation (HSCT), which for over the last 50 years remains one of the best and most robust examples of cell-based therapies for the treatment of hematologic malignancies. Yet, the approach to infuse T cells for treatment of cancer, in general, and pediatric tumors, in particular, generally remains on the sidelines of cancer therapy. This review outlines the current state-of-the-art and provides a rationale for undertaking adoptive immunotherapy trials with emphasis on childhood malignancies. PMID:18026145

  3. Stathmin 1 in normal and malignant hematopoiesis

    PubMed Central

    Machado-Neto, João Agostinho; Olalla Saad, Sara Teresinha; Traina, Fabiola

    2014-01-01

    Stathmin 1 is a microtubule destabilizer that plays an important role in cell cycle progression, segregation of chromosomes, clonogenicity, cell motility and survival. Stathmin 1 overexpression has been reported in malignant hematopoietic cells and Stathmin 1 inhibition reduces the highly proliferative potential of leukemia cell lines. However, during the differentiation of primary hematopoietic cells, Stathmin 1 expression decreases in parallel to decreases in the proliferative potential of early hematopoietic progenitors. The scope of the present review is to survey the current knowledge and highlight future perspectives for Stathmin 1 in normal and malignant hematopoiesis, with regard to the expression, function and clinical implications of this protein. [BMB Reports 2014; 47(12): 660-665] PMID:24667172

  4. Malignant syphilis in an AIDS patient.

    PubMed

    Dos Santos, T R; de Castro, I J; Dahia, M M B; de Azevedo, M C V M; da Silva, G A R; Motta, R N; da Cunha Pinto, J; de Almeida Ferry, F R

    2015-04-01

    Malignant syphilis is an uncommon, but not unknown, ulcerative variation of secondary syphilis. The lesions typically begin as papules, which quickly evolve to pustules and then to ulcers with elevated edges and central necrosis. It is usually, but not mandatory, found in patients with some level of immunosuppression, such as HIV patients, when the TCD4(+) cell count is >200 cells/mm(3). Despite the anxiety the lesions cause, this form of the disease has a good prognosis. The general symptoms disappear right after the beginning of treatment, and lesions disappear over a variable period. This study reports the case of a 27-year-old man who has been HIV positive for 6 years, uses antiretroviral therapy incorrectly, has a TCD4(+) cell count of 340 cells/mm(3), a VDRL of 1:128 and itchy disseminated hyperchromic maculopapular lesions with rupioid crusts compatible with malignant syphilis. PMID:25408098

  5. Green Tea: Nature's Defense against Malignancies

    Microsoft Academic Search

    Masood Sadiq Butt; Muhammad Tauseef Sultan

    2009-01-01

    The current practice of introducing phytochemicals to support the immune system or fight against diseases is based on centuries old traditions. Nutritional support is a recent advancement in the domain of diet-based therapies; green tea and its constituents are one of the important components of these strategies to prevent and cure various malignancies. The anti-carcinogenic and anti-mutagenic activities of green

  6. Malignant syphilis with human immunodeficiency virus infection

    PubMed Central

    Rajan, Jiby; Prasad, P. V. S.; Chockalingam, K.; Kaviarasan, P. K.

    2011-01-01

    Malignant syphilis or Lues maligna, commonly reported in the pre-antibiotic era, has now seen a resurgence with the advent of human immunodeficiency virus (HIV). Immunosuppression and sexual promiscuity set the stage for this deadly association of HIV and Treponema pallidum that can manifest atypically and can prove to cause diagnostic problems. We report one such case in a 30-year-old female who responded favorably to treatment with penicillin. PMID:23130209

  7. Retinal Arteriolar Changes in Malignant Arterial Hypertension

    Microsoft Academic Search

    Sohan Singh Hayreh; Gary E. Servais; Prem Singh Virdi

    1989-01-01

    Experimental renovascular malignant arterial hypertension was produced by modified Goldblatt’s procedures, in 60 rhesus monkeys, and various retinal arteriolar changes in hypertensive retinopathy were studied in detail (by serial ophthalmoscopy, and stereoscopic color fundus photography and fluorescein fundus angiography on long-term follow-up). The retinal arteriolar changes, in ophthalmoscopically visible arterioles, consisted of arteriolar sclerosis and associated changes, e.g., increased arteriolar

  8. Immunomodulation in the treatment of haematological malignancies

    Microsoft Academic Search

    Michela Cesco-Gaspere; Emma Morris; Hans J. Stauss

    2009-01-01

    Despite the continuous advances in immunology and cancer biology, haematological malignancies are often incurable. Conventional\\u000a chemotherapy and radiation are efficacious for some lymphoma and leukaemia, however relapse and progressive disease often\\u000a occurs. The evidence that the immune system can play an essential role in controlling cancer progression provide a basis for\\u000a the development of active therapies, such as immunization, aimed

  9. Transgenic mouse model of malignant skin melanoma.

    PubMed

    Mintz, B; Silvers, W K

    1993-10-01

    Tyr-SV40E transgenic mice are specifically susceptible to melanoma due to expression of the oncogene in pigment cells. Mice of the more susceptible lines die young of early-onset eye melanomas, when skin melanomas are still infrequent and benign. To surmount this obstacle, skin from donors of two high-susceptibility lines was grafted to Tyr-SV40E hosts of a low-susceptibility line of the same inbred strain, thereby enabling the skin to outlive the donors and continue to grow in immunocompetent but tolerant hosts. Unexpectedly, donor pigment cells in all the grafts soon selectively proliferated close to areas of greatest wound healing, forming a dense black tracery, especially at the outer rim of the grafts. These lesions slowly grew radially within the grafts, producing irregular greyish patches. Local vertical thickenings then appeared and developed into small melanomas, which soon ulcerated through the epidermis. The tumors rapidly enlarged and became deeply invasive. Discrete black nevi also arose, with many becoming larger and distinctly blue, but those not near areas of pronounced wound healing did not progress to malignancy. In this first series, malignant melanoma resulted in all the grafts from the more susceptible of two donor lines and in some grafts from the other line. Distant metastases occurred in some cases from each line. Most tumors were hypomelanotic and heterogeneous, with lobes or areas differing in melanization. The results strongly suggest that growth factors and cytokines--known to be produced in wound repair--are triggering the growth and malignant conversion of these genetically susceptible melanocytes and that in the graft situation we are merely witnessing a caricature--a usefully exaggerated manifestation of the true events underlying the genesis of melanomas. The striking resemblance to the human malignancy, the genetic uniformity and different susceptibilities of the transgenic lines, and the experimental possibilities in the grafted mice all make them an excellent model of the disease. PMID:8415613

  10. Targeted molecular therapy of malignant gliomas

    Microsoft Academic Search

    Santosh Kesari; Naren Ramakrishna; Claire Sauvageot; Charles D. Stiles; Patrick Y. Wen

    2006-01-01

    Malignant gliomas are the most common form of primary brain tumors in adults. Despite advances in diagnosis and standard therapies\\u000a such as surgery, radiation, and chemotherapy, the prognosis remains poor. Recent scienti fic advances have enhanced our understanding\\u000a of the biology of gliomas and the role of tyrosine kinase receptors and signal transduction pathways in tumor initiation and\\u000a maintenance, such

  11. Targeted molecular therapy of malignant gliomas

    Microsoft Academic Search

    Santosh Kesari; Naren Ramakrishna; Claire Sauvageot; Charles D. Stiles; Patrick Y. Wen

    2005-01-01

    Malignant gliomas are the most common form of primary brain tumors in adults. Despite advances in diagnosis and standard therapies\\u000a such as surgery, radiation, and chemotherapy, the prognosis remains poor. Recent scientific advances have enhanced our understanding\\u000a of the biology of gliomas and the role of tyrosine kinase receptors and signal transduction pathways in tumor initiation and\\u000a maintenance, such as

  12. Targeting cell cycle regulators in hematologic malignancies

    PubMed Central

    Aleem, Eiman; Arceci, Robert J.

    2015-01-01

    Hematologic malignancies represent the fourth most frequently diagnosed cancer in economically developed countries. In hematologic malignancies normal hematopoiesis is interrupted by uncontrolled growth of a genetically altered stem or progenitor cell (HSPC) that maintains its ability of self-renewal. Cyclin-dependent kinases (CDKs) not only regulate the mammalian cell cycle, but also influence other vital cellular processes, such as stem cell renewal, differentiation, transcription, epigenetic regulation, apoptosis, and DNA repair. Chromosomal translocations, amplification, overexpression and altered CDK activities have been described in different types of human cancer, which have made them attractive targets for pharmacological inhibition. Mouse models deficient for one or more CDKs have significantly contributed to our current understanding of the physiological functions of CDKs, as well as their roles in human cancer. The present review focuses on selected cell cycle kinases with recent emerging key functions in hematopoiesis and in hematopoietic malignancies, such as CDK6 and its role in MLL-rearranged leukemia and acute lymphocytic leukemia, CDK1 and its regulator WEE-1 in acute myeloid leukemia (AML), and cyclin C/CDK8/CDK19 complexes in T-cell acute lymphocytic leukemia. The knowledge gained from gene knockout experiments in mice of these kinases is also summarized. An overview of compounds targeting these kinases, which are currently in clinical development in various solid tumors and hematopoietic malignances, is presented. These include the CDK4/CDK6 inhibitors (palbociclib, LEE011, LY2835219), pan-CDK inhibitors that target CDK1 (dinaciclib, flavopiridol, AT7519, TG02, P276-00, terampeprocol and RGB 286638) as well as the WEE-1 kinase inhibitor, MK-1775. The advantage of combination therapy of cell cycle inhibitors with conventional chemotherapeutic agents used in the treatment of AML, such as cytarabine, is discussed.

  13. Application of tumor markers in ovarian malignancies

    Microsoft Academic Search

    T. Malati; G. Rajani Kumari; B. Yadagiri

    2001-01-01

    Ovarian cancer is the fifth leading cause of death in women. The incidence of this malignancy increases in women over the\\u000a age of 40. The overall five years survival is less than 30%, as most women present with advanced stage disease. Until recently,\\u000a detection of early stage ovarian cancer has been difficult since it is usually nonpalpable and asymptomatic. The

  14. Secondary hematological malignancies following breast cancer treatment

    Microsoft Academic Search

    Soley BayraktarMaricer; Maricer P. Escalón

    2010-01-01

    Breast cancer (BC) incidence has increased among women in most Western countries. Concurrently, the survival time of BC patients\\u000a has increased with 5-year survival rates reaching 80–90%. Secondary hematological malignancies (SHM) following BC treatment\\u000a are an issue of concern to clinicians and also to patients and their families. However, therapy-induced leukemia after BC\\u000a is an underemphasized clinical problem. In this

  15. Malignant and benign thoracic tumors during pregnancy.

    PubMed

    Dieter, Raymond A; Kuzycz, George B; Dieter, Raymond A

    2006-01-01

    Eight female patients 23-38 years of age are presented who were pregnant and had concomitant thoracic tumors. The tumors were of a variety of cell types, both malignant and benign, causing chest pain, dyspnea, shock, hemoptysis, and mass formation. Surgical intervention, cobalt radiation, and chemotherapy led to survival and cure of both the mothers and the children. An aggressive approach is recommended. PMID:17436612

  16. MGMT promoter methylation in malignant gliomas

    Microsoft Academic Search

    Markus J. Riemenschneider; Monika E. Hegi; Guido Reifenberger

    2010-01-01

    The O6-methylguanine-DNA methyltransferase (MGMT) gene is located at chromosome 10q26 and codes for a DNA repair enzyme that—if active—can counteract the effects of alkylating\\u000a chemotherapy. Malignant gliomas often have the MGMT gene inactivated due to aberrant methylation of its promoter region. The assessment of the MGMT promoter methylation status has become of clinical relevance as a molecular marker associated with

  17. Cryosurgery for malignant tumours of the liver

    PubMed Central

    McKinnon, J. Gregory; Temple, Walley J.; Wiseman, David A.; Saliken, John C.

    1996-01-01

    Objective To evaluate the safety and efficacy of ultrasound-guided cryosurgery to treat malignant tumours of the liver. Design A prospective nonrandomized trial. The follow-up was complete and ranged from 8 to 35 months. Setting A university-affiliated hospital. Patients Ten patients with secondary malignant tumours of the liver; 1 with primary hepatoma. Interventions Computed portography for preoperative staging; laparotomy and ultrasonographic examination of the liver; cryosurgical ablation of liver tumours with or without a concomitant resection. Thirteen procedures were performed on 11 patients. Main Outcome Measures Preoperative morbidity, disease-free and overall survival. Results Of 24 lesions frozen, the procedure on 4 lesions was considered a technical failure because of persistent disease. There were no perioperative deaths. One patient had a liver abscess that resolved with percutaneous drainage. One patient had a biliary fistula that resolved spontaneously, and one had a transient rise in the serum creatinine level. Of 11 patients treated, 7 had a recurrence in the liver (persistent disease in 2 and new liver metastases in 5); 2 of these patients died. One patient died of distant disease with no local recurrence. At the time of writing, one patient was alive with extrahepatic disease and no local recurrence and two were free of disease. Conclusions Cryosurgery of the liver is a relatively safe procedure that allows treatment of otherwise un-resectable malignant disease. Proof of long-term benefit requires further experience and follow-up. PMID:8857990

  18. Malignant external otitis: early scintigraphic detection

    SciTech Connect

    Strashun, A.M.; Nejatheim, M.; Goldsmith, S.J.

    1984-02-01

    Pseudomonas otitis externa in elderly diabetics may extend aggressively to adjacent bone, cranial nerves, meninges, and vessels, leading to a clinical diagnosis of ''malignant'' external otitis. Early diagnosis is necessary for successful treatment. This study compares the findings of initial radiographs, thin-section tomography of temporal bone, CT scans of head and neck, technetium-99m methylene diphosphonate (MDP) and gallium-67 citrate scintigraphy, and single-photon emission computed tomography (SPECT) for detection of temporal bone osteomylitis in ten patients fulfilling the clinical diagnostic criteria of malignant external otitis. Skull radiographs were negative in all of the eight patients studied. Thin-section tomography was positive in one of the seven patients studied using this modality. CT scanning suggested osteomyelitis in three of nine patients. Both Tc-99m and Ga-67 citrate scintigraphy were positive in 10 of 10 patients. These results suggest that technetium and gallium scintigraphy are more sensitive than radiographs and CT scans for early detection of malignant external otitis.

  19. A case of pelvic malignant paraganglioma.

    PubMed

    Taue, R; Takigawa, H; Sinotou, K; Uno, S; Mori, R; Tatara, K; Sano, T

    2001-12-01

    We report a rare case of pelvic malignant paraganglioma that was treated with surgery, combination chemotherapy and radiation. A 47-year-old man was diagnosed with pelvic malignant paraganglioma that had metastasised to the thoracic vertebrae. The pelvic mass, which was 6 cm in size, was on the posterior side of the bladder and had invaded the prostate, seminal vesicle and bladder neck. We resected the intrapelvic tumor and lymph nodes using cystoprostatectomy. Metastases to bilateral obturator lymph nodes and the right internal iliac lymph node were shown by pathology. Adjuvant therapies included six courses of the combination chemotherapy (cyclophosphamide, vincristine and dacarbazine), and 12 courses of VP-16 therapy. Radiation therapy was done for metastasis of the thoracic vertebrae. Local recurrence, progression of bone metastasis and new metastasis have not been detected since these treatments. The patient has been clinically stable during 20 months of follow-up. Chemotherapy of cyclophosphamide, vincristine and dacarbazine and VP-16 with radiation appears to be effective in treating advanced malignant paraganglioma. PMID:11851776

  20. Targeting the Apoptosis Pathway in Hematologic Malignancies

    PubMed Central

    Zaman, Shadia; Wang, Rui; Gandhi, Varsha

    2014-01-01

    Apoptosis is a cell death program that is well-orchestrated for normal tissue homeostasis and for removal of damaged, old, or infected cells. It is regulated by intrinsic and extrinsic pathways. The intrinsic pathway responds to signals such as ultraviolet radiation or DNA damage and activates “executioner” caspases through a mitochondria-dependent pathway. The extrinsic pathway is activated by death signals induced, for example, by an infection that activates the immune system or receptor-mediated pathways. The extrinsic pathway signals also cascade down to executioner caspases that cleave target proteins and lead to cell death. Strict control of cellular apoptosis is important for the hematopoietic system as it has a high turnover rate. However, the apoptosis program is often deregulated in hematologic malignancies leading to the accumulation of malignant cells. Therefore, apoptosis pathways have been identified for development of anticancer therapeutics. We review here the proteins that have been targeted for anticancer drug development in hematologic malignancies. These include BCL-2 family proteins, death ligands and receptors, inhibitor of apoptosis family proteins, and caspases. Except for caspase activators, drugs that target each of these classes of proteins have advanced into clinical trials. PMID:24295132

  1. Growth hormone treatment and risk of malignancy

    PubMed Central

    Chae, Hyun-Wook; Kim, Duk-Hee

    2015-01-01

    Growth hormone (GH) treatment has been increasingly widely used for children with GH deficiencies as the survival rate of pediatric patients with malignancies has increased. Both GH and insulin-like growth factor-I have mitogenic and antiapoptotic activity, prompting concern that GH treatment may be associated with tumor development. In this review, the authors examined the relationship between GH treatment and cancer risk in terms of de novo malignancy, recurrence, and secondary neoplasm. Although the results from numerous studies were not entirely consistent, this review of various clinical and epidemiological studies demonstrated that there is no clear evidence of a causal relationship between GH treatment and tumor development. Nonetheless, a small number of studies reported that childhood cancer survivors who receive GH treatment have a small increased risk of developing de novo cancer and secondary malignant neoplasm. Therefore, regular follow-ups and careful examination for development of cancer should be required in children who receive GH treatment. Continued surveillance for an extended period is essential for monitoring long-term safety.

  2. Diagnosis of toxoplasmosis in children with malignancy.

    PubMed

    Ramadan, N I; Abdel Latif, M M; Abdel Aaty, H E

    2000-08-01

    The study aimed at the diagnosis of toxoplasmosis in 73 children with malignancy; 31 with lymphoma (22 with Hodgkin's and 9 with non-Hodgkin's lymphoma) and 42 with leukemia (34 with acute lymphoblastic leukemia and 8 with acute myelogenic leukemia). In positive cases toxoplasmosis was manifested by any of the following; fever, lymph node enlargement, neurological manifestations and/or hepatosplenomegaly. The indirect hemagglutination test (IHA) for toxoplasmosis detected 4 (5.4%) positive cases with malignancy, 2 with Hodgkin's lymphoma, one with non-Hodgkin's lymphoma and one with acute lymphoblastic leukemia. The immunoglobulin M enzyme-linked immunosorbent assay (IgM ELISA) detected only one (1.4%) case with Hodgkin's lymphoma. Immunoglobulin G (IgG) ELISA detected 6 (8.2%) positive cases, 3 with Hodgkin's lymphoma, one with non-Hodgkin's lymphoma and 2 cases with acute lymphoblastic leukemia. Polymerase chain reaction for detection of parasite DNA in blood (PCR) was the most useful in diagnosing toxoplasmosis with malignancy, as it was able to detect 9 (12.3%) positive cases; 5 (6.8%) with Hodgkin's lymphoma, one (1.4%) with non-Hodgkin's lymphoma and 3 (4.1%) with acute lymphoblastic leukemia. No positive toxoplasmosis cases were detected with acute myelogenic leukemia by any of the above methods. PMID:10946513

  3. NF-?B pathways in hematological malignancies.

    PubMed

    Gasparini, Chiara; Celeghini, Claudio; Monasta, Lorenzo; Zauli, Giorgio

    2014-06-01

    The nuclear factor ?B or NF-?B transcription factor family plays a key role in several cellular functions, i.e. inflammation, apoptosis, cell survival, proliferation, angiogenesis, and innate and acquired immunity. The constitutive activation of NF-?B is typical of most malignancies and plays a major role in tumorigenesis. In this review, we describe NF-?B and its two pathways: the canonical pathway (RelA/p50) and the non-canonical pathway (RelB/p50 or RelB/p52). We then consider the role of the NF-?B subunits in the development and functional activity of B cells, T cells, macrophages and dendritic cells, which are the targets of hematological malignancies. The relevance of the two pathways is described in normal B and T cells and in hematological malignancies, acute and chronic leukemias (ALL, AML, CLL, CML), B lymphomas (DLBCLs, Hodgkin's lymphoma), T lymphomas (ATLL, ALCL) and multiple myeloma. We describe the interaction of NF-?B with the apoptotic pathways induced by TRAIL and the transcription factor p53. Finally, we discuss therapeutic anti-tumoral approaches as mono-therapies or combination therapies aimed to block NF-?B activity and to induce apoptosis (PARAs and Nutlin-3). PMID:24419302

  4. Therapeutic nuclear medicine in pediatric malignancy.

    PubMed

    Schmidt, M; Baum, R P; Simon, T; Howman-Giles, R

    2010-08-01

    The following review aims to provide contemporary information on therapeutic nuclear medicine procedures in paediatric malignancies. Neuroblastoma is the most common paediatric extra cranial solid cancer characterized by meta-iodobenzylguanidine (mIBG) avidity in >/=90% of patients. There exists approximately a 30-year experience with I-131-mIBG treatment. Ongoing efforts include a more standardized approach including dosimetric data for patient selection and treatment guidance of I-131-mIBG therapy. Neuroendocrine tumours (NETs) are very rare neoplasms in the paediatric population accounting for <1% of all paediatric malignancies. These neoplasms are characterized by the presence of neuroamine uptake mechanisms and/or peptide receptors at the cell membrane. These features constitute the basis of the clinical use of peptide receptor radionuclide therapy (PRRNT) using radiolabeled somatostatin analogues. Osteosarcoma is the most common primary bone tumour in children usually treated with chemotherapy and surgery. In palliative situations bone seeking radionuclide therapies (strontium-89 [Sr-89], rhenium-186 hydroxyethylene diphosphonate [Rh-186 HEDP] and Samarium-153-ethylene diamine tetramethylene phosphonic acid [Sm-153-EDTMP]) may be offered to patients with painful metastatic osteosarcoma or in case of recurrent bone sites inaccessible to local therapies (surgery, external irradiation). Thyroid cancer is a rare childhood malignancy with an approximate incidence of 0.54 per 100000 per year but is the most frequent tumour of endocrine glands in children and adolescents. Management includes radioiodine therapy but there are some distinct differences in comparison to adult thyroid cancer management. PMID:20823809

  5. Overheating alone can trigger malignant hyperthermia in piglets.

    PubMed

    Denborough, M; Hopkinson, K C; O'Brien, R O; Foster, P S

    1996-06-01

    Seven out of eight piglets which were susceptible to malignant hyperthermia (MHS) died when subjected to a heat challenge which was well tolerated by controls. The piglets which succumbed developed the classical clinical and biochemical changes of malignant hyperthermia before they died. These results show that overheating alone can trigger malignant hyperthermia in susceptible animals. Because the biochemical basis of malignant hyperthermia is similar in both humans and pigs, these observations suggest that overheating can also trigger malignant hyperthermia in humans. The susceptibility to overheating in malignant hyperthermia susceptible humans and animals probably explains why the myopathy which predisposes to this condition has also been reported to predispose to heat-stroke and the sudden infant death syndrome. In view of this, particular care to prevent overheating should be taken in infants of parents who are susceptible to malignant hyperthermia. PMID:8805890

  6. Multifocal infantile hepatic hemangiomas--imaging strategy and response to treatment after propranolol and steroids including review of the literature.

    PubMed

    Bosemani, Thangamadhan; Puttgen, Katherine B; Huisman, Thierry A G M; Tekes, Aylin

    2012-07-01

    Infantile hepatic hemangioma is the most common benign liver tumor during infancy. Prompt diagnosis and timely institution of therapy are of utmost importance. Magnetic resonance imaging (MRI) plays a key role in the correct diagnosis and monitoring of treatment. We report on a 15-week-old girl with multifocal infantile hemangiomas of the liver and high output congestive heart failure. Diagnosis was confirmed by MRI. Subsequent treatment with propranolol and steroids showed dramatic regression of the lesions within 24 weeks. We present the characteristic MRI findings and discuss treatment options together with a comprehensive review of the relevant literature. Conclusion Propranolol appears highly efficacious in the management of infantile hepatic hemangioma; dedicated MRI is essential in confirming the diagnosis and monitoring of treatment. PMID:22234480

  7. Percutaneous balloon pericardiotomy for patients with malignant pericardial effusion including three malignant pleural mesotheliomas.

    PubMed

    Ovünç, K; Aytemir, K; Ozer, N; Atalar, E; Aksöyek, S; Nazli, N; Gürsel, G; Kes, S

    2001-05-01

    Ten patients were enrolled in this study to evaluate the therapeutic value of percutaneous balloon pericardiotomy in patients with symptomatic pericardial effusion secondary to malignant diseases. Four patients had breast cancer; 2 had lung cancer; 1 had non-Hodgkin's lymphoma; and 3 had malignant pleural mesothelioma, which is commonly seen in Central Anatolian region of Turkey. All patients underwent percutaneous balloon pericardiotomy with monofoil balloons (Mansfield, NuMed). No complication was seen during these procedures. In 3 patients, the balloon could not be expanded completely and was entered from a more lateral position by a second puncture. There was no recurrence of pericardial effusion in 6 of 7 patients without mesothelioma. After percutaneous balloon pericardiotomy, surgical subxiphoid windowing was performed due to drainage greater than 100 mL/day in a patient with lung cancer and in 1 patient with mesothelioma. In the other 2 patients with mesothelioma, recurrence of pericardial effusion was seen and then subxiphoid surgical windowing was performed due to development of cardiac tamponade in 1 of them. All the patients died 68.6 +/- 36 days later due to the primary malignancies. The survival time of patients with mesothelioma was shorter than that of the others (p < 0.05). These results suggest that percutaneous balloon pericardiotomy may be used in the treatment of patients with malignant pericardial effusion as an alternative to surgical pericardial window creation. But in patients with malignant pleural mesothelioma, the success rate of this procedure was lower than that of the others. PMID:11386383

  8. Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.

    PubMed

    Götz, Alexandra; Tyynismaa, Henna; Euro, Liliya; Ellonen, Pekka; Hyötyläinen, Tuulia; Ojala, Tiina; Hämäläinen, Riikka H; Tommiska, Johanna; Raivio, Taneli; Oresic, Matej; Karikoski, Riitta; Tammela, Outi; Simola, Kalle O J; Paetau, Anders; Tyni, Tiina; Suomalainen, Anu

    2011-05-13

    Infantile cardiomyopathies are devastating fatal disorders of the neonatal period or the first year of life. Mitochondrial dysfunction is a common cause of this group of diseases, but the underlying gene defects have been characterized in only a minority of cases, because tissue specificity of the manifestation hampers functional cloning and the heterogeneity of causative factors hinders collection of informative family materials. We sequenced the exome of a patient who died at the age of 10 months of hypertrophic mitochondrial cardiomyopathy with combined cardiac respiratory chain complex I and IV deficiency. Rigorous data analysis allowed us to identify a homozygous missense mutation in AARS2, which we showed to encode the mitochondrial alanyl-tRNA synthetase (mtAlaRS). Two siblings from another family, both of whom died perinatally of hypertrophic cardiomyopathy, had the same mutation, compound heterozygous with another missense mutation. Protein structure modeling of mtAlaRS suggested that one of the mutations affected a unique tRNA recognition site in the editing domain, leading to incorrect tRNA aminoacylation, whereas the second mutation severely disturbed the catalytic function, preventing tRNA aminoacylation. We show here that mutations in AARS2 cause perinatal or infantile cardiomyopathy with near-total combined mitochondrial respiratory chain deficiency in the heart. Our results indicate that exome sequencing is a powerful tool for identifying mutations in single patients and allows recognition of the genetic background in single-gene disorders of variable clinical manifestation and tissue-specific disease. Furthermore, we show that mitochondrial disorders extend to prenatal life and are an important cause of early infantile cardiac failure. PMID:21549344

  9. Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

    PubMed Central

    Götz, Alexandra; Tyynismaa, Henna; Euro, Liliya; Ellonen, Pekka; Hyötyläinen, Tuulia; Ojala, Tiina; Hämäläinen, Riikka H.; Tommiska, Johanna; Raivio, Taneli; Oresic, Matej; Karikoski, Riitta; Tammela, Outi; Simola, Kalle O.J.; Paetau, Anders; Tyni, Tiina; Suomalainen, Anu

    2011-01-01

    Infantile cardiomyopathies are devastating fatal disorders of the neonatal period or the first year of life. Mitochondrial dysfunction is a common cause of this group of diseases, but the underlying gene defects have been characterized in only a minority of cases, because tissue specificity of the manifestation hampers functional cloning and the heterogeneity of causative factors hinders collection of informative family materials. We sequenced the exome of a patient who died at the age of 10 months of hypertrophic mitochondrial cardiomyopathy with combined cardiac respiratory chain complex I and IV deficiency. Rigorous data analysis allowed us to identify a homozygous missense mutation in AARS2, which we showed to encode the mitochondrial alanyl-tRNA synthetase (mtAlaRS). Two siblings from another family, both of whom died perinatally of hypertrophic cardiomyopathy, had the same mutation, compound heterozygous with another missense mutation. Protein structure modeling of mtAlaRS suggested that one of the mutations affected a unique tRNA recognition site in the editing domain, leading to incorrect tRNA aminoacylation, whereas the second mutation severely disturbed the catalytic function, preventing tRNA aminoacylation. We show here that mutations in AARS2 cause perinatal or infantile cardiomyopathy with near-total combined mitochondrial respiratory chain deficiency in the heart. Our results indicate that exome sequencing is a powerful tool for identifying mutations in single patients and allows recognition of the genetic background in single-gene disorders of variable clinical manifestation and tissue-specific disease. Furthermore, we show that mitochondrial disorders extend to prenatal life and are an important cause of early infantile cardiac failure. PMID:21549344

  10. Infantile Hepatitis B in Immunized Children: Risk for Fulminant Hepatitis and Long-Term Outcomes

    PubMed Central

    Tseng, Yu-Ru; Wu, Jia-Feng; Kong, Man-Shan; Hu, Fu-Chang; Yang, Yao-Jong; Yeung, Chun-Yan; Huang, Fu-Chen; Huang, I-Fei; Ni, Yen-Hsuan; Hsu, Hong-Yuan; Chang, Mei-Hwei; Chen, Huey-Ling

    2014-01-01

    Background Infantile hepatitis B after neonatal immunoprophylaxis is a rare yet distinct disease. This study aimed to analyze the long-term outcomes and risk factors in immunized infants with hepatitis B. Methods The clinical parameters and outcomes of 41 infants born after universal immunization, and admitted for HBV-positive hepatitis were studied. All patients were followed for at least 6 months (median ?=?4.4 years, range 0.6–18.1 years). Patient survival, changes of HBsAg and HBeAg status, and complications were analyzed. Results Among the 41 cases (32 males, 9 females), 21 presented with fulminant hepatitis (FH), and 20 with non-fulminant hepatitis (NFH). Ninety-five percent (36/38) of the mothers were positive for hepatitis B surface antigen (HBsAg). Multivariate analyses revealed younger age of onset (age <7 months) and negative maternal hepatitis B e antigen (HBeAg) were associated with FH (p?=?0.03 and p?=?0.01, respectively). An infantile fulminant hepatitis B risk score using maternal/infant HBeAg positivity and onset age was proposed. Among the FH cases, the rate of mortality, HBsAg clearance, and chronic HBV infection were 47.6%, 38.1%, and 14.3%, respectively. Among the NFH cases, 35% developed chronic infection. Of the 9 chronically infected children received long-term follow-up, 8 had HBeAg seroconversion before 4 years of age. One case of FH developed hepatocellular carcinoma 14 years later. Conclusions Maternal HBsAg + /HBeAg- and early onset age were risk factors for FH in immunized infants. A significant portion of patients with FH or NFH evolve to chronic HBV infection, with HBeAg seroconversion in young childhood. Close surveillance for hepatocellular carcinoma is warranted in patients surviving infantile hepatitis B. PMID:25380075

  11. [Sibling cases of severe infantile form of nemaline myopathy with ACTA1-gene mutation].

    PubMed

    Sudo, Akira; Hayashi, Yukiko; Sano, Hitomi; Kawamura, Nobuaki; Nishino, Ichizo; Nonaka, Ikuya

    2013-11-01

    Severe infantile form of nemaline myopathy is clinically characterized by marked muscle hypotonia and weakness with respiratory and feeding difficulties since infancy. Recently, mutations in the skeletal muscle alpha-actine gene (ACTA1) have been identified in many patients with the nemaline myopathy. We experienced two cases of severe infantile form of nemaline myopathy with ACTA1 mutation (missence heterozygous mutation;c.553C>T, p.R185C) in siblings presenting with different clinical symptoms and courses. The elder brother was a typical "floppy infant" at birth. Because he could not suck and swallow at all, he was fed completely through a nasogastric tube. At 2 months of age, he developed respiratory insufficiency and was placed on a respirator all day. He was diagnosed with having nemaline myopathy from his muscle biopsy, which revealed marked variation in muscle fiber size with large numbers of nemaline bodies on Gomori-trichrome stain. In contrast, the younger brother presented with mild muscular hypotonia and feeding difficulty during the neonatal stage;therefore, he was partly fed through a nasogastric tube. At 2 months of age, he was admitted to our hospital because of respiratory distress, and he required nasal continuous positive airway pressure with oxygen followed by noninvasive positive pressure ventilation intermittently, mainly at night. He was followed at his home by parents with no serious problems;however he unexpectedly died at the age of 15 months. Although most cases of severe infantile form of nemaline myopathy caused by ACTA1 mutations are sporadic and have no family history, we emphasize that clinical symptoms are variable in siblings with the same mutation. PMID:24313005

  12. Recurrent infantile myofibromatosis in a 19-month-old boy presenting as ulcerated plaque.

    PubMed

    Hocar, Ouafa; Sab, Imane Ait; Akhdari, Nadia; Amal, Said; Ouladsiad, Mohamed; Belaabidia, Badiaa

    2013-01-01

    A 19-month-old boy presented to our department with ulcerated plaque on the right lumbar region. The lesion was known to have been growing for about 5 months. At another center 9 months prior to presenting to our department, the patient's parents reported a history of cutaneous nodules from the same lumbar region. Their total excision was performed, and the pathology report stated that it was infantile calcifying fibromatosis or nodular fasciitis. The patient was healthy with a nonsignificant, medical history including no use of medications, no known drug allergies, and no significant family history of disease. PMID:24517046

  13. Cause-Specific Mortality Due to Malignant and Non-Malignant Disease in Korean Foundry Workers

    PubMed Central

    Yoon, Jin-Ha; Ahn, Yeon-Soon

    2014-01-01

    Background Foundry work is associated with serious occupational hazards. Although several studies have investigated the health risks associated with foundry work, the results of these studies have been inconsistent with the exception of an increased lung cancer risk. The current study evaluated the mortality of Korean foundry workers due to malignant and non-malignant diseases. Methods This study is part of an ongoing investigation of Korean foundry workers. To date, we have observed more than 150,000 person-years in male foundry production workers. In the current study, we stratified mortality ratios by the following job categories: melting-pouring, molding-coremaking, fettling, and uncategorized production work. We calculated standard mortality ratios (SMR) of foundry workers compare to general Korean men and relative risk (RR) of mortality of foundry production workers reference to non-production worker, respectively. Results Korean foundry production workers had a significantly higher risk of mortality due to malignant disease, including stomach (RR: 3.96; 95% CI: 1.41–11.06) and lung cancer (RR: 2.08; 95% CI: 1.01–4.30), compared with non-production workers. High mortality ratios were also observed for non-malignant diseases, including diseases of the circulatory (RR: 1.92; 95% CI: 1.18–3.14), respiratory (RR: 1.71; 95% CI: 1.52–21.42 for uncategorized production worker), and digestive (RR: 2.27; 95% CI: 1.22–4.24) systems, as well as for injuries (RR: 2.36; 95% CI: 1.52–3.66) including suicide (RR: 3.64; 95% CI: 1.32–10.01). Conclusion This study suggests that foundry production work significantly increases the risk of mortality due to some kinds of malignant and non-malignant diseases compared with non-production work. PMID:24505454

  14. Role of CT in assessing pleural malignancy prior to thoracoscopy.

    PubMed

    Hallifax, R J; Haris, M; Corcoran, J P; Leyakathalikhan, S; Brown, E; Srikantharaja, D; Manuel, A; Gleeson, F V; Munavvar, M; Rahman, N M

    2015-02-01

    The definitive diagnosis of pleural malignancy depends upon histological confirmation by pleural biopsy. CT is reported to have a high sensitivity and specificity for the diagnosis of malignant pleural disease, and is part of the routine diagnostic workup of these patients. The aim of this study was to assess the sensitivity and specificity of CT in detecting pleural malignancy prior to definitive histology obtained via thoracoscopy in a large cohort of patients with suspected malignant pleural disease. Retrospective review of thoracoscopies between January 2008 and January 2013 at two UK tertiary referral centres: Oxford and Preston. The histological results were compared with the CT reported diagnosis before the procedure. CT scan reports were assessed by independent respiratory physicians as to whether the radiologist concluded evidence of malignant pleural disease or benign features only. 211 (57%) of 370 patients included in the analysis had malignant disease: CT scans were reported as 'malignant' in 144, giving a sensitivity of 68% (95% CI 62% to 75%). Of the 159 patients with benign disease, 124 had CT scans reported as benign: specificity 78% (72% to 84%). The positive predictive value of a malignant CT report was 80% (75% to 86%), with a negative predictive value of 65% (58% to 72%). A significant proportion of patients being investigated for malignant disease will have malignancy despite a negative CT report. The use of CT alone in determining which patients should have invasive pleural biopsies should be re-evaluated, and further studies to define the diagnostic pathway are now required. PMID:25077699

  15. Secondary pulmonary alveolar proteinosis in hematologic malignancies.

    PubMed

    Chaulagain, Chakra P; Pilichowska, Monika; Brinckerhoff, Laurence; Tabba, Maher; Erban, John K

    2014-12-01

    Pulmonary alveolar proteinosis (PAP), characterized by deposition of intra-alveolar PAS positive protein and lipid rich material, is a rare cause of progressive respiratory failure first described by Rosen et al. in 1958. The intra-alveolar lipoproteinaceous material was subsequently proven to have been derived from pulmonary surfactant in 1980 by Singh et al. Levinson et al. also reported in 1958 the case of 19-year-old female with panmyelosis afflicted with a diffuse pulmonary disease characterized by filling of the alveoli with amorphous material described as "intra-alveolar coagulum". This is probably the first reported case of PAP in relation to hematologic malignancy. Much progress has been made on PAP first described by Rosen which is currently classified as idiopathic or primary or autoimmune PAP. Idiopathic PAP occurs as a result of auto-antibodies directed against granulocyte-macrophage colony stimulating factor (GM-CSF) impeding the surfactant clearing function of alveolar macrophages leading to progressive respiratory failure. Whole lung lavage and GM-CSF therapy has improved outcomes in patients with idiopathic PAP. Despite major advancement in the management of hematologic malignancy and its complications, little is known about the type of PAP first described by Levinson and now known as secondary PAP; a term also used when PAP occurs due to other causes such as occupational dusts. In this article we review and analyze the limited literature available in secondary PAP due to hematologic malignancies and present a case of PAP associated with chronic lymphocytic leukemia successfully treated with bendamustine and rituximab. PMID:25300566

  16. Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1.

    PubMed

    Krüger, Stefan; Kinzel, Miriam; Walldorf, Constanze; Gottschling, Sven; Bier, Andrea; Tinschert, Sigrid; von Stackelberg, Arend; Henn, Wolfram; Görgens, Heike; Boue, Stephanie; Kölble, Konrad; Büttner, Reinhard; Schackert, Hans K

    2008-01-01

    Heterozygous germline mutations in mismatch repair (MMR) genes MLH1, PMS2, MSH2, and MSH6 cause Lynch syndrome. New studies have indicated that biallelic mutations lead to a distinctive syndrome, childhood cancer syndrome (CCS), with haematological malignancies and tumours of brain and bowel early in childhood, often associated with signs of neurofibromatosis type 1. We provide further evidence for CCS reporting on six children from two consanguineous families carrying homozygous PMS2 germline mutations. In family 1, all four children had the homozygous p.I590Xfs mutation. Two had a glioblastoma at the age of 6 years and one of them had three additional Lynch-syndrome associated tumours at 15. Another sibling suffered from a glioblastoma at age 9, and the fourth sibling had infantile myofibromatosis at 1. In family 2, two of four siblings were homozygous for the p.G271V mutation. One had two colorectal cancers diagnosed at ages 13 and 14, the other had a Non-Hodgkin's lymphoma and a colorectal cancer at ages 10 and 11, respectively. All children with malignancies had multiple café-au-lait spots. After reviewing published cases of biallelic MMR gene mutations, we provide a concise description of CCS, revealing similarities in age distribution with carriers of heterozygous MMR gene mutations. PMID:17851451

  17. Molecular targeting in childhood malignancies using nanoparticles

    NASA Astrophysics Data System (ADS)

    Satake, Noriko; Barisone, Gustavo; Diaz, Elva; Nitin, Nitin; Nolta, Jan; Lam, Kit

    2012-06-01

    The goal of our project is to develop a new therapy for childhood malignancies using nanoformulated siRNA targeting Mxd3, a molecule in the Sonic Hedgehog signaling pathway, which we believe is important for cell survival. We plan to use cancer-specific ligands and superparamagnetic iron oxide nanoparticles (SPIO NPs) to carry siRNA. This delivery system will be tested in mouse xenograft models that we developed with primary cancer tissues. Our current focus is acute lymphoblastic leukemia (ALL), the most common cancer in children. We report our progress to date.

  18. Mimicking pancreatic malignancy: a systemic sarcoidosis.

    PubMed

    Zhang, Li-Na; Xue, Qing-Liang; Wang, Jian-Xin

    2014-01-01

    Systemic sarcoidosis that initially presents as a pancreatic mass has rarely been reported. A 47-year-old man presented with idiopathic epigastric abdominal pain. Abdominal CT showed multiple enlarged lymph nodes in the retroperitoneal area and a suspected tumor mass in the pancreatic head region. The preliminary diagnosis was celiac metastasis of a pancreatic malignancy. The definitive diagnosis was systemic sarcoidosis, which was supported by granulomas on histology, clinical radiographic findings, and clinical response to steroids. A review of published reports on sarcoidosis presenting initially as a pancreatic or celiac mass from the Chinese biomedical database (1978-2010) is included. PMID:24658558

  19. Malignant Clival Chordoma with Postoperative Cutaneous Metastases

    PubMed Central

    Couldwell, William T.; Stillerman, Charles B.; Rice, Dale; Maceri, Dennis; Sherman, Randolph; Fukushima, Takanori; Hinton, David R.

    1996-01-01

    The authors report the case of a chordoma with malignant cytologic features, presenting as a mass lesion in the clival and infratemporal region at the level of the craniocervical junction in an 8-year-old female. Following gross resection of the mass, the patient subsequently developed distant subcutaneous and peritoneal metastases from the lesion. The rare histologic features, the surgical approach to the lesion, and the follow-up management of this unique case are discussed. ImagesFigure 1Figure 2Figure 3Figure 4 PMID:17170954

  20. Neuroleptic malignant syndrome: A diagnostic challenge.

    PubMed

    Ambulkar, Reshma P; Patil, Vijaya P; Moiyadi, Aliasgar V

    2012-10-01

    We report the case of a 7-year-old girl operated for craniopharyngioma who developed hyperkalemic cardiac arrest in the post-operative period. She was diagnosed as Neuroleptic malignant syndrome (NMS) and the causative drug was carbamazepine. It was essentially a diagnosis of exclusion, and treatment was mainly supportive in form of withdrawal of the neuroleptic medication (carbamazepine) and administration of dantrolene and bromocriptine. Although, relatively uncommon, NMS can be fatal. NMS presents a clinical challenge as the patient outcome depends on its prompt recognition and treatment. PMID:23225938

  1. Malignant peripheral nerve sheath tumor: A rarity

    PubMed Central

    Yaga, Uday Shankar; Shivakumar, Rashmi; Kumar, M. Ashwini; Sathyaprakash

    2015-01-01

    Malignant peripheral nerve sheath tumor (MPNST) of the mandible is an uncommon tumor that develops either from a preexisting neurofibroma or de novo. MPNSTs are sarcomas that originate from peripheral nerves or from cells associated with the nerve sheath, such as Schwann cells, perineural cells or from fibroblasts. Because MPNSTs can arise from multiple cell types, the overall appearance can vary greatly from one case to the next. A case of MPNST of the right side of the mandible in a 23-year-old female is reported.

  2. Researchers discover new mutations driving malignant melanoma

    Cancer.gov

    Two new mutations that collectively occur in 71 percent of malignant melanoma tumors have been discovered in what scientists call the "dark matter" of the cancer genome, where cancer-related mutations haven't been previously found. Reporting their findings in the Jan. 24 issue of Science Express, the researchers from Dana-Farber Cancer Institute and the Broad Institute said the highly "recurrent" mutations – occurring in the tumors of many people – may be the most common mutations in melanoma cells found to date.

  3. Curative stereotactic body radiotherapy for liver malignancy

    Microsoft Academic Search

    Peter Gunvén; Henric Blomgren; Ingmar Lax; Seymour H. Levitt

    2009-01-01

    Nine patients with 11 primary or secondary liver non-neuroendocrine malignancies with mean and maximum diameters of 4.0 and\\u000a 7.7 cm became long-term survivors after precision irradiation in a stereotactic body frame. Doses varied from 20 to 45 Gy\\u000a split at 2–4 occasions a few days apart, with higher doses in the target centers. Occasional chemotherapy was stopped well\\u000a before irradiation. No hospitalizations

  4. Oncolytic Viral Therapy of Malignant Glioma

    PubMed Central

    Parker, Jacqueline Nuss; Bauer, David; Cody, James J.; Markert, James M.

    2014-01-01

    SUMMARY Novel approaches to treatment of malignant glioma, the most frequently occurring primary brain tumor, have included the use of a wide range of oncolytic viral vectors. These vectors, either naturally tumor-selective, or engineered as such, have shown promise in the handful of Phase I and Phase II clinical trials conducted in recent years. The strategies developed for each of the different viruses currently being studied, and the history of their development, are summarized here. Additionally, the results of clinical trials in patients, and their implication for future trials, are also discussed. PMID:19560745

  5. Amelanotic malignant melanoma of the cervical oesophagus.

    PubMed

    Ramaswamy, Balakrishnan; Bhandarkar, Ajay M; Venkitachalam, Shruti; Trivedi, Shivangi

    2014-01-01

    We report the case of a young woman who presented with progressive dysphagia and swelling in the anterior aspect of the neck of short duration. On evaluation, she was diagnosed with amelanotic malignant melanoma of the cervical oesophagus. She underwent total laryngopharyngo-oesophagectomy with gastric transposition with bilateral modified radical neck dissection with feeding jejunostomy and a permanent tracheostomy with postoperative combined chemoradiation therapy. However, in spite of aggressive treatment, the patient expired 8 months after initial presentation with distant metastasis. PMID:24729119

  6. Considering iatrogenic psychosis after malignant glioma resection.

    PubMed

    Shah, Ashish Harish; Gordon, Catherine E; Bregy, Amade; Shah, Nirav; Komotar, Ricardo Jorge

    2014-01-01

    It is generally well known that medial temporal lobe resections have been associated with a variety of postoperative neuropsychiatric disturbances. Most of the neurosurgical literature on psychiatric disturbances after a temporal lobectomy concern patients with a strong history of epilepsy; however, relatively few articles have been reported due to a mesial temporal lobectomy following tumour removal. We report the case of a patient who underwent a gross total resection of a malignant astrocytoma in the temporal lobe who developed transient psychosis. Difficulties in diagnosing and predicting this condition are discussed as along with management considerations. PMID:24759157

  7. RNA targeted therapeutics for hematologic malignancies.

    PubMed

    Gewirtz, Alan M

    2007-01-01

    In a variety of experimental systems, antisense nucleic acids (ASNA) of various composition, including antisense oligodeoxynucleotides (ODN) and siRNA, have been shown to have the ability to variably perturb gene expression in a sequence specific manner. Pilot clinical studies from our group, and others, have demonstrated that gene silencing is a therapeutic strategy that is starting to make a real contribution to the treatment of various diseases. The development of this field, with specific reference to hematologic malignancies, is reviewed very briefly below. PMID:17215146

  8. LA INTEGRACIÓN DE LAS TIC EN LOS CENTROS ESCOLARES DE EDUCACIÓN INFANTIL Y PRIMARIA: CONDICIONES PREVIAS INTEGRATION OF ICTs IN SCHOOL CENTERS OF INFANTILE AND PRIMARY EDUCATION: PREVIOUS CONDITIONS

    Microsoft Academic Search

    José Luis Lázaro Cantabrana; Mercè Gisbert Cervera

    2006-01-01

    The integration of the ICTs is one of the current objectives of many school centers. We consider that the systematizing starting from the design and development of specific curricular projects, as well as the preparation of the scenario are key factors for the success. We describe in this article an experience in this respect in a center of infantile and

  9. Distal infantile neuroaxonal dystrophy--a new familial variant with perineuronal argyrophilic bodies.

    PubMed

    Kyllerman, M; Månsson, J E; Lichtenstein, M; Percy, A K; Nordborg, C

    2001-07-01

    We report on two sisters with an infantile onset of dyskinetic movements, tonic spasms, seizures and apneic spells. The condition deteriorated to a hypotonic "burnt out" stage by the age of 3 years in the older sister and to a stable dyskinetic condition by the age of 2.5 years in the younger one. A skin biopsy from the older sister revealed myelinated nerve fibers crowded with neurofilaments. The extensive investigation for neurometabolic disorder, magnetic resonance imaging of the brain, and ophthalmological and neurophysiological examinations were not especially revealing. The older sister died at the age of 3 years. The autopsy revealed no apparent loss of nerve cells in the brain and no sign of storage disease. However, silver-stained coarse granules, immunopositive for neurofilament polypeptide, were found around nerve cell bodies in the cortex and in the basal ganglia. Electron microscopy revealed perineuronal membrane-bound profiles filled with filaments. Silver-stained axonal torpedoes were found in the cerebellum, but there were no spheroids. The substantia nigra, the locus ceruleus and the nucleus basalis of Meynert showed extensive perineuronal and perivascular swelling. Homovanillic acid was severely reduced, while 5-hydroxyindoleacetic acid and hydroxymethylphenyl glycol were normal in the cerebrospinal fluid of the severely affected, autopsied case. The two cases are considered to represent a new form of infantile neuroaxonal dystrophy, characterized by the degeneration of perineuronal terminals in the cerebral cortex and in the basal ganglia, as well as by axonal degeneration in the cerebellum and peripheral nerves. PMID:11547955

  10. Early-infantile galactosialidosis: Clinical, biochemical, and molecular observations in a new patient

    SciTech Connect

    Zammarchi, E.; Donati, M.A.; Morrone, A. [Univ. of Florence (Italy)] [and others] [Univ. of Florence (Italy); and others

    1996-08-23

    Few patients with the early-infantile form of galactosialidosis have been described to date. Presented here is the first Italian case. Fetal hydrops was detected by ultrasound at week 24 of gestation. At birth, the infant presented with hypotonial, massive edema, a flattened coarse facies. telangiectasias, and hepatosplenomegaly, but no dysostosis multiplex. The patient died 72 days postpartum. Excessive sialyloligosaccharides in urine, as well as vacuolation of lymphocytes and eosinophilic granulocytes in peripheral blood, were indicative of a lysosomal storage disease. In the patient`s fibroblasts, both {alpha}-neuraminidase and {beta}-galactosidase activities were severely reduced, and cathepsin A activity was <1% of control levels, confirming the biochemical diagnosis of galactosialidosis. However, in contrast to previously reported early-infantile cases, a normal amount of protective protein/cathepsin A mRNA was detected on Northern blots. This mutant transcript was translated into a precursor protein that was not processed into the mature enzyme and lacked both protective and catalytic activities. 28 refs., 4 figs., 1 tab.

  11. Treatment of severe sequelae of infantile hip sepsis with trochanteric arthroplasty.

    PubMed

    Wang, En B; Ji, Shi J; Zhao, Qun; Zhang, Li J

    2007-03-01

    We retrospectively reviewed 30 hips in 30 patients with complete destruction of the femoral head and neck from infantile septic arthritis to investigate the result and the ideal age for performance of trochanteric arthroplasty. All patients were treated with a 1-stage trochanteric arthroplasty at age from 11 to 98 months. We measured the range of motion of the hip, and we used the modified Harris hip score to evaluate pain and hip function and the multiplier growth-remaining method to assess predicted limb-length discrepancy. At a mean 7-year follow-up, we found that the modified Harris hip scores were negatively correlative--and the predicted limb-length discrepancy positively correlative--with the age at surgery in months. Range of motion in flexion and abduction of the hips of patients operated on at age older than 4 years were worse than that of the hips of patients operated on at age younger than 4 years. Therefore, we recommend that trochanteric arthroplasty should be performed as early as age 1 year for children with Hunka type V deformities after infantile septic arthritis of hip. Children older than 4 years might be contraindicated for trochanteric arthroplasty. PMID:17314641

  12. Autologous Cord Blood Therapy for Infantile Cerebral Palsy: From Bench to Bedside

    PubMed Central

    Jensen, A.

    2014-01-01

    About 17 million people worldwide live with cerebral palsy, the most common disability in childhood, with hypoxic-ischemic encephalopathy, preterm birth, and low birth weight being the most important risk factors. This review will focus on recent developments in cell therapy for infantile cerebral palsy by transplantation of autologous umbilical cord blood. There are only 4 publications available at present; however, the observations made along with experimental data in vivo and in vitro may be of utmost importance clinically, so that a review at an early developmental stage of this new therapeutic concept seems justified. Particularly, since the first published double-blind randomized placebo-controlled trial in a paradigm using allogeneic cord blood and erythropoietin to treat cerebral palsy under immunosuppression showed beneficial therapeutic effects in infantile cerebral palsy, long-held doubts about the efficacy of this new cell therapy are dispelled and a revision of therapeutic views upon an ailment, for which there is no cure at present, is warranted. Hence, this review will summarize the available information on autologous cord blood therapy for cerebral palsy and that on the relevant experimental work as far as potential mechanisms and modes of action are concerned. PMID:24695413

  13. Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency

    PubMed Central

    Boczonadi, Veronika; Smith, Paul M.; Pyle, Angela; Gomez-Duran, Aurora; Schara, Ulrike; Tulinius, Mar; Chinnery, Patrick F.; Horvath, Rita

    2013-01-01

    Childhood-onset mitochondrial encephalomyopathies are severe, relentlessly progressive conditions. However, reversible infantile respiratory chain deficiency (RIRCD), due to a homoplasmic mt-tRNAGlu mutation, and reversible infantile hepatopathy, due to tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency, stand out by showing spontaneous recovery, and provide the key to treatments of potential broader relevance. Modification of mt-tRNAGlu is a possible functional link between these two conditions, since TRMU is responsible for 2-thiouridylation of mt-tRNAGlu, mt-tRNALys and mt-tRNAGln. Here we show that down-regulation of TRMU in RIRCD impairs 2-thiouridylation and exacerbates the effect of the mt-tRNAGlu mutation by triggering a mitochondrial translation defect in vitro. Skeletal muscle of RIRCD patients in the symptomatic phase showed significantly reduced 2-thiouridylation. Supplementation with l-cysteine, which is required for optimal TRMU function, rescued respiratory chain enzyme activities in human cell lines of patients with RIRCD as well as deficient TRMU. Our results show that l-cysteine supplementation is a potential treatment for RIRCD and for TRMU deficiency, and is likely to have broader application for the growing group of intra-mitochondrial translation disorders. PMID:23814040

  14. Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors

    PubMed Central

    Poulton, Cathryn J.; Schot, Rachel; Kia, Sima Kheradmand; Jones, Marta; Verheijen, Frans W.; Venselaar, Hanka; de Wit, Marie-Claire Y.; de Graaff, Esther; Bertoli-Avella, Aida M.; Mancini, Grazia M.S.

    2011-01-01

    We describe a syndrome of primary microcephaly with simplified gyral pattern in combination with severe infantile epileptic encephalopathy and early-onset permanent diabetes in two unrelated consanguineous families with at least three affected children. Linkage analysis revealed a region on chromosome 18 with a significant LOD score of 4.3. In this area, two homozygous nonconserved missense mutations in immediate early response 3 interacting protein 1 (IER3IP1) were found in patients from both families. IER3IP1 is highly expressed in the fetal brain cortex and fetal pancreas and is thought to be involved in endoplasmic reticulum stress response. We reported one of these families previously in a paper on Wolcott-Rallison syndrome (WRS). WRS is characterized by increased apoptotic cell death as part of an uncontrolled unfolded protein response. Increased apoptosis has been shown to be a cause of microcephaly in animal models. An autopsy specimen from one patient showed increased apoptosis in the cerebral cortex and pancreas beta cells, implicating premature cell death as the pathogenetic mechanism. Both patient fibroblasts and control fibroblasts treated with siRNA specific for IER3IP1 showed an increased susceptibility to apoptotic cell death under stress conditions in comparison to controls. This directly implicates IER3IP1 in the regulation of cell survival. Identification of IER3IP1 mutations sheds light on the mechanisms of brain development and on the pathogenesis of infantile epilepsy and early-onset permanent diabetes. PMID:21835305

  15. The mystery of persistent pulmonary hypertension: an idiopathic infantile arterial calcification

    PubMed Central

    2013-01-01

    Background Idiopathic infantile arterial calcification (IIAC) is a rare autosomal recessive disorder, characterized by wide spread calcifications in arterial walls, leading to vaso-occlusive ischaemia of multiple organs. Mortality is high, and there is no definitive treatment. Case presentation A male neonate, 36+5 weeks gestation, 2.81 kg, was admitted to NICU for respiratory distress. At one hour of age, he was noted to be pale, hypoperfused, with weak pulses, a hyperdynamic precordium and a grade IV/VI pansystolic murmur. The rest of his examination was normal. A chest X-ray showed massive cardiomegaly and pulmonary oedema. An echocardiogram (ECHO) indicated moderate persistent pulmonary hypertension (PPHN) of unclear etiology. A diagnosis of Idiopathic infantile arterial calcification was made and a trial of Editronate therapy was given without success. Conclusion IIAC is a rare disorder, it should be considered whenever a neonate presents with unexplainable cardiac failure, PPHN, echogenic vessels on X-ray/ultrasound and, or concentric hypertrophic ventricles on ECHO. Serial antenatal ultrasound findings of echogenic cardiac foci should raise the suspicion of IIAC. Further studies to determine the long term effects of Editronate on vascular calcifications, disease outcome, and other treatment options are needed. PMID:23855924

  16. Water content and structure in malignant and benign skin tumours

    NASA Astrophysics Data System (ADS)

    Gniadecka, M.; Nielsen, O. F.; Wulf, H. C.

    2003-12-01

    Analysis of the low frequency region of Raman spectra enables determination of water structure. It has been previously demonstrated by various techniques that water content and possibly also the water structure is altered in some malignant tumours. To further elucidate possible change in water structure in tumours we performed NIR FT Raman spectroscopy on biopsies from selected benign and malignant skin tumours (benign: seborrheic keratosis, pigmented nevi; malignant: malignant melanoma, basal cell carcinoma). We did not observe any differences in water content between malignant and benign skin tumours with an exception of seborrheic keratosis, in which the water content was decreased. Increase in the tetrahedral (free) water was found in malignant skin tumours and sun-damaged skin relative to normal young skin and benign skin tumours. This finding may add to the understanding of molecular alterations in cancer.

  17. [Detection of potentially malignant and malignant lesions of oral cavity using autofluorescence visualization device].

    PubMed

    Matsumoto, Kanako

    2011-06-01

    Light-based oral cancer screening aids have been developed in identifying potentially malignant and malignant lesions of oral cavity at their earliest stage. The VELscope system is a simple hand-held device that facilitates the direct visualization of oral-cavity fluorescence for the detection of precancerous and cancerous lesions. Some published reports have shown that this system can assist in the detection of precancerous and cancerous lesions, but there is no evidence that it can distinguish between them. We studied whether objective discrimination criteria can be set for this system when observing oral mucosal lesions. We examined 74 cases with biopsy-confirmed oral mucosal lesions; 37 squamous cell carcinoma lesions, 14 moderate to severe epithelial dysplasia lesions, 13 mild epithelial dysplasia lesions and 10 lichen planus lesions. Lesions were examined macroscopically under the conventional overhead light, and then, examined by this device. Each examination was recorded with a digital camera. We contrasted findings with histopathological manifestation, and calculated the attenuation score. It is found that several conditions and sites, such as keratinization and the degree of inflammatory cell infiltration, were associated with detection sensitivity using this device. Based on the attenuation scores, a significant difference was seen between squamous cell carcinoma and epithelial dysplasia. It is suggested that this device might be a valuable adjunct in the early detection of potentially malignant and malignant lesions of the oral cavity. PMID:21827020

  18. Orbital infantile myofibroma: a case report and clinicopathologic review of 24 cases from the literature.

    PubMed

    Mynatt, Corey J; Feldman, Kenneth A; Thompson, Lester D R

    2011-09-01

    Isolated orbital infantile myofibroma are rare tumors in the head and neck. The mass-like clinical presentation and variable histologic features result in frequent misdiagnosis and potentially inappropriate clinical management. There are only a few reported cases in the English literature. Twenty-four patients with orbital infantile myofibroma or myofibromatosis were compiled from the English literature (Medline 1960-2011) and integrated with this case report. The patients included 14 males and 10 females, aged newborn to 10 years (mean, 34.8 months), who presented with a painless mass in the infra- or supraorbital regions, usually increasing in size andassociated with exophthalmos (n = 5). Females were on average older than their male counterparts (38.9 vs. 31.9 months, respectively; P = 0.71). The tumors were twice as frequent on the left (n = 16) than right (n = 8). Patients experienced symptoms for an average of 2.7 months before clinical presentation. The tumors involved the bone (n = 17) or the soft tissues (n = 7) of the orbit, with extension into the nasal or oral cavity (n = 3). The mean size was 3.0 cm, with a statistically significant difference between males and females (mean: 3.9 vs. 1.82; P = 0.0047), but without any differences based on age at presentation (P = 0.25), duration of symptoms (P = 0.66), or bone or soft tissue involvement (P = 0.51). Grossly, all tumors were well-circumscribed, firm to rubbery, homogenous, and white-grey. Histologically, the tumors were biphasic, showing whorled and nodular areas of fusiform cells with extracellular collagen, mixed with a population of small, primitive-appearing, darkly staining cells. Necrosis was not present, but mitoses could be seen. Tumors with immunohistochemistry performed showed strong and diffuse smooth muscle actin and vimentin immunoreactivity, but were negative with muscle specific actin, desmin, MYOD1, myogenin, S100 protein, GFAP, keratin, CD31, 34, Factor VIIIR-Ag, and CD45RB. The principle histologic differential diagnosis includes juvenile hyaline fibromatosis, fibrous hamartoma of infancy, fibromatosis coli, leiomyoma, infantile hemangiopericytoma, infantile fibrosarcoma, Ewing sarcoma/primitive neuroectodermal tumor, and lymphoma. All patients were managed with surgery. Recurrences developed in two patients at 4 and 6 months, respectively. Follow-up data was available on all but two patients (n = 22). These patients were either alive without evidence of disease (n = 18), alive but with disease (n = 3), or had died unrelated to this disease (i.e., neuroblastoma, n = 1). Orbital infantile myofibroma is a rare tumor, presenting in infancy as an enlarging mass of the orbit, with characteristic histomorphologic and immunophenotypic features. Orbital disease is usually isolated rather than part of systemic disease, and shows an excellent long-term prognosis, making appropriate separation from other conditions important. PMID:21512784

  19. Preoperative Evaluation of Risk of Ovarian Malignancy Algorithm Index in Prediction of Malignancy of Adnexal Masses

    PubMed Central

    Farzaneh, Farah; Honarvar, Zahra; Yaraghi, Mansoore; Yaseri, Mehdi; Arab, Maliheh; Hosseini, Maryamsadat; Ashrafgangoi, Tahereh

    2014-01-01

    Background: Differentiation between benign and malignant ovarian neoplasms is essential to create a system for patient referrals. Objectives: The aim of the present prospective trial was to analyze the value of the risk of ovarian malignancy algorithm (ROMA) in prediction of adnexal masses malignancy in pre- and post-menopause women before operation. Materials and Methods: Preoperative serum samples were tested for CA125 and HE4 using fully automated methods (Abbott architect) and gained best cutoff. The ROMA index was analyzed in 99 patients (including 68 pre-menopause and 31 menopause) with adnexal masses referred to Imam Hossein Hospital/Tehran/Iran and had been scheduled for operation. The pathological results showed 43 cases (22 menopause) with malignant adnexal masses and 56 cases (9 menopauses) with benign adnexal masses. Demographical data, clinical symptoms and the ROMA index were separately analyzed and contrasted in benign and malignant in both menopause and pre-menopause patients. Results: The only significant difference was the older age of the malignant group vs. benign group (P = 0.001) regarding demographic findings. As concerns the clinical symptoms, presence of abdominal discomfort in pre-diagnosis period was the only significant parameter in malignant group (P = 0.001). Additionally, data analysis of patients as a total group showed that specificity (96.4%), positive predictive value (PPV) (94.1%), area under the curve (AUC) (0.907), and diagnostic accuracy (DA) (86.9%) of the ROMA were higher than HE4 (91.1%, 85.7%, 0.857 and 81.8%. respectively) and CA125 (87.9%, 67.3%, 0.828 and 75.8%, respectively) alone. Besides, negative predictive value (NPV) (86.4%) and sensitivity (86.1%) of CA125 were higher than HE4 (79.7% and 69.8%, respectively). In contrast, specificity of HE4 (91.1%) was higher than CA125 (67.9%). Data analysis of patients as two groups (pre and post menopause groups) showed the same results. Conclusions: Specificity, DA and AUC of the ROMA were higher than HE4 and CA125 taken separately. PMID:25068046

  20. EFFECTS OF PRENATAL TESTOSTERONE PROPIONATE AND VINCLOZOLIN ON PERINATAL AND INFANTILE DEVELOPMENT OF MALE AND FEMALE RATS

    EPA Science Inventory

    Effects of Prenatal Testosterone Propionate and Vinclozolin on Perinatal and Infantile Development of Male and Female Rats Cynthia Wolf1,2, Jonathan Furr1, Gerald A. LeBlanc2, and L. Earl Gray, Jr.1 1USEPA, NHEERL, RTD, EB, RTP, NC 27711, 2Dept. of Environmental and Molecu...

  1. Identification of two HEXA mutations causing infantile-onset Tay–Sachs disease in the Persian population

    Microsoft Academic Search

    Alireza Haghighi; Jamileh Rezazadeh; Azam Ahmadi Shadmehri; Amirreza Haghighi; Ruth Kornreich; Robert J Desnick

    2011-01-01

    The ?-hexosaminidase A (HEXA) mutations in the first reported cases of infantile Tay–Sachs disease in the Persian population were identified in two unrelated consanguineous families. The clinical diagnoses of the affected infants were confirmed by their markedly deficient levels of HEXA activity in plasma or peripheral leukocytes. The specific causative mutation in each family was determined by sequencing the HEXA

  2. Chronic low dose Adderall XR ® down-regulates cfos expression in infantile and prepubertal rat striatum and cortex

    Microsoft Academic Search

    J. K. Allen; M. Wilkinson; E. C. Soo; J. P. M. Hui; T. D. Chase; N. Carrey

    2010-01-01

    We previously reported that treatment of prepubertal male rats with low, injected or oral, doses of methylphenidate stimulated cfos, fosB and arc expression in many areas of the developing brain. In the present study our objective was to determine whether the widely prescribed psychostimulant Adderall XR® (ADD) exerted similar effects in infantile and prepubertal rat brain. We report here, for

  3. GLUT1 endothelial reactivity distinguishes hepatic infantile hemangioma from congenital hepatic vascular malformation with associated capillary proliferation

    Microsoft Academic Search

    Jun Q Mo; Haytham H Dimashkieh; Kevin E Bove

    2004-01-01

    Hepatic vascular lesions in pediatric patients have overlapping definitions and a plethora of confusing terminology. The so-called hepatic infantile hemangioendothelioma (IHE) frequently coexists and shares some biological features with cutaneous juvenile hemangioma (CJH). To clarify the nature of hepatic vascular lesions in pediatric patients and to investigate the association between IHE and CJH, we reviewed the clinical features, imaging findings

  4. Mutations in the Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis

    Microsoft Academic Search

    Sandra Hanks; Sarah Adams; Jenny Douglas; Laura Arbour; David J. Atherton; Sevim Balci; Harald Bode; Mary E. Campbell; Murray Feingold; Gökhan Keser; Wim Kleijer; Grazia Mancini; John A. McGrath; Francesco Muntoni; Arti Nanda; M. Dawn Teare; Matthew Warman; F. Michael Pope; Andrea Superti-Furga; P. Andrew Futreal; Nazneen Rahman

    2003-01-01

    Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are autosomal recessive conditions characterized by multiple subcutaneous skin nodules, gingival hypertrophy, joint contractures, and hyaline depo- sition. We previously mapped the gene for JHF to chromosome 4q21. We now report the identification of 15 different mutations in the gene encoding capillary morphogenesis protein 2 (CMG2) in 17 families with JHF

  5. Maternal and infant use of erythromycin and other macrolide antibiotics as risk factors for infantile hypertrophic pyloric stenosis

    Microsoft Academic Search

    Barbara E. Mahon; Marc B. Rosenman; Martin B. Kleiman

    2001-01-01

    Objectives: To evaluate the risk for infantile hypertrophic pyloric stenosis (IHPS) among infants prescribed systemic erythromycin, infants prescribed a course of erythromycin ophthalmic ointment, and infants whose mothers were prescribed a macrolide antibiotic during pregnancy. Study design: Retrospective cohort study of infants born at an urban hospital from June 1993 through December 1999. Results: Of 14,876 eligible infants, 43 (0.29%)

  6. Fractures in Individuals with and without a History of Infantile Autism. A Danish Register Study Based on Hospital Discharge Diagnoses

    ERIC Educational Resources Information Center

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

    2012-01-01

    We compared the prevalence and types of fractures in a clinical sample of 118 individuals diagnosed as children with infantile autism (IA) with 336 matched controls from the general population. All participants were screened through the nationwide Danish National Hospital Register. The average observation time was 30.3 years (range 27.3-30.4…

  7. The influence of etiology upon ictal semiology, treatment decisions and long-term outcomes in infantile spasms and West syndrome

    Microsoft Academic Search

    Andrew L. Lux; John P. Osborne

    2006-01-01

    Studying infantile spasms is challenging because there are so many aspects of variation that introduce potential bias. These might relate to the many underlying etiologies, and variations in clinical semiology and electroencephalographic features that relate more to age or timing of investigation than to the underlying epilepsy or seizures type. New gene defects associated with the CDKL5\\/STK9 and ARX genes

  8. Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

    Microsoft Academic Search

    Alex R Paciorkowski; Liu Lin Thio; Jill A Rosenfeld; Marzena Gajecka; Christina A Gurnett; Shashikant Kulkarni; Wendy K Chung; Eric D Marsh; Mattia Gentile; James D Reggin; James W Wheless; Sandhya Balasubramanian; Ravinesh Kumar; Susan L Christian; Carla Marini; Renzo Guerrini; Natalia Maltsev; Lisa G Shaffer; William B Dobyns

    2011-01-01

    Infantile spasms (ISS) are an epilepsy disorder frequently associated with severe developmental outcome and have diverse genetic etiologies. We ascertained 11 subjects with ISS and novel copy number variants (CNVs) and combined these with a new cohort with deletion 1p36 and ISS, and additional published patients with ISS and other chromosomal abnormalities. Using bioinformatics tools, we analyzed the gene content

  9. Epilepsy and Other Neurological Diseases in the Parents of Children with Infantile Autism. A Case Control Study

    ERIC Educational Resources Information Center

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

    2008-01-01

    In order to study the broader phenotype of infantile autism (IA) we compared the rates and types of epilepsy and other neurological diseases in the parents of 111 consecutively admitted patients with IA with a matched control group of parents of 330 children from the general population. All participants were screened through the nationwide Danish…

  10. Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Idiopathic infantile hypercalcemia (IIH) is a disorder the genetic etiology and physiological basis of which are not well understood. The objective of the study was to describe the underlying physiology and genetic cause of hypercalcemia in an infant with severe IIH and to extend these genetic findi...

  11. [Clinical trial updates for malignant brain tumors].

    PubMed

    Wakabayashi, Toshihiko

    2011-11-01

    Gliomas account for approximately 40% of all brain tumors and are thus the most common primary tumors of the central nervous system (CNS). High-grade (WHO grades III and IV) malignant gliomas that include anaplastic astrocytoma (AA), anaplastic oligodendroglioma (AO), anaplastic oligoastrocytoma (AOA), and glioblastoma multiforme (GBM) are often resistant to treatment; especially, GBM, the most common glioma in adults, kills patients within a median time span of a year after diagnosis despite treatment with aggressive surgical resection, chemotherapy, and radiotherapy. In 2006, Temozolomide (TMZ) was certified as the treatment agent for malignant gliomas in Japan, and it is now used as the first-line therapy. However, its clinical outcomes depend on the O(6)-methylguanine-DNA methyltransferase (MGMT) status, and MGMT modification is one of the key factors to obtain greater clinical benefits. Previously, we demonstrated that Interferon-? (IFN-?) markedly enhanced chemosensitivity to TMZ in an in vitro study of human glioma cells; this finding suggested that one of the major mechanisms by which IFN-? enhances chemosensitivity is the downregulation of MGMT transcription via p53 induction. Previously, we tried clinical trial of gene therapy by means of IFN-? gene in order to evaluate the safety, feasibility, and preliminary clinical effectiveness, and reasonable results could be obtained. As a next step, we are conducting a clinical trial study, namely, genomic therapy using with siRNA-MGMT. We hope that these new regimen will be safe and well tolerated, and may prolong survival in patients with GBM. PMID:22277391

  12. The molecular basis of myeloid malignancies

    PubMed Central

    KITAMURA, Toshio; INOUE, Daichi; OKOCHI-WATANABE, Naoko; KATO, Naoko; KOMENO, Yukiko; LU, Yang; ENOMOTO, Yutaka; DOKI, Noriko; UCHIDA, Tomoyuki; KAGIYAMA, Yuki; TOGAMI, Katsuhiro; KAWABATA, Kimihito C.; NAGASE, Reina; HORIKAWA, Sayuri; HAYASHI, Yasutaka; SAIKA, Makoto; FUKUYAMA, Tomofusa; IZAWA, Kumi; OKI, Toshihiko; NAKAHARA, Fumio; KITAURA, Jiro

    2014-01-01

    Myeloid malignancies consist of acute myeloid leukemia (AML), myelodysplastic syndromes (MDS) and myeloproliferative neoplasm (MPN). The latter two diseases have preleukemic features and frequently evolve to AML. As with solid tumors, multiple mutations are required for leukemogenesis. A decade ago, these gene alterations were subdivided into two categories: class I mutations stimulating cell growth or inhibiting apoptosis; and class II mutations that hamper differentiation of hematopoietic cells. In mouse models, class I mutations such as the Bcr-Abl fusion kinase induce MPN by themselves and some class II mutations such as Runx1 mutations induce MDS. Combinations of class I and class II mutations induce AML in a variety of mouse models. Thus, it was postulated that hematopoietic cells whose differentiation is blocked by class II mutations would autonomously proliferate with class I mutations leading to the development of leukemia. Recent progress in high-speed sequencing has enabled efficient identification of novel mutations in a variety of molecules including epigenetic factors, splicing factors, signaling molecules and proteins in the cohesin complex; most of these are not categorized as either class I or class II mutations. The functional consequences of these mutations are now being extensively investigated. In this article, we will review the molecular basis of hematological malignancies, focusing on mouse models and the interfaces between these models and clinical findings, and revisit the classical class I/II hypothesis. PMID:25504228

  13. [Anti-angiogenic therapy for malignant glioma].

    PubMed

    Nagane, Motoo

    2014-02-01

    Glioblastoma(GBM)is the most malignant and frequent primary brain tumor. The current standard of care consists of maximum safe resection and radiotherapy with concomitant and subsequent temozolomide(TMZ)treatment. With this treatment plan, the prognosis of patients with GBM remains dismal, with a 5-year survival rate of<10%; thus development of effective, novel therapies is needed. Bevacizumab(Bev, Avastin®)is a humanized monoclonal antibody against vascular endothelial growth factor(VEGF), one of the major potent angiogenic factors for the growth of human cancers, including GBM. Bev has been shown to effectively shrink enhancing lesions of recurrent GBM and decrease symptom burden and brain edema. These positive results led to its approval for malignant glioma treatment in June 2013 in Japan. Two double-blind, placebo-controlled, randomized phase III studies of Bev in newly diagnosed GBM were conducted to verify its efficacy as a first-line therapy used in combination with TMZ. The results, which were reported at the American Society for Clinical Oncology(ASCO)meeting in June 2013, failed to show an increase in overall survival, despite prolongation in progression-free survival. These results led to many unsolved issues regarding the use of Bev for the treatment of GBM. We discuss these problems in this paper and highlight our institutional experience with Bev monotherapy for recurrent high-grade gliomas. PMID:24743191

  14. Follicular malignant melanoma: primary follicular or folliculotropic?

    PubMed

    Machan, Salma; El Shabrawi-Caelen, Laila; Nikolay, Eva; Kerl, Helmut; Requena, Luis; Cerroni, Lorenzo

    2015-01-01

    Follicular malignant melanoma (FMM) is a rare variant of melanoma arising on sun-damaged skin of elderly patients. It is characterized histopathologically by a prominent involvement of 1 or 2 adjacent hair follicles. The authors report 3 new cases of FMM (M:F = 2:1; age range, 23-67 years; median age, 50 years) located on the scalp, cheek, and upper back. Complete effacement of the hair follicle, replaced by neoplastic melanocytes, was observed in 1 case. The interfollicular epidermis and adventitial dermis were involved in all 3 cases. Our series shows that FMM is not restricted to elderly patients but may arise also in young individuals without association with chronic sun damage. FMM should be distinguished from folliculotropic metastases of melanoma and from atypical melanocytic nevi. Although the histopathological features and the term FMM may suggest a derivation from melanocytes of the hair follicle, the exact origin of neoplastic cells is yet unclear, and at least some of these cases may represent folliculotropic examples of primary epidermal malignant melanoma. PMID:24614208

  15. Malignant schwannoma of the obturator nerve.

    PubMed

    Kanta, M; Petera, J; Ehler, E; Prochazka, E; Lastovicka, D; Habalova, J; Valis, M; Rehak, S

    2013-01-01

    Lesions of obturator nerve are rare. Tumours and mainly malignant schwannoma of this nerve are extremely rare. The authors describe an unusual case of a gigantic schwannoma of the obturator nerve in 69 year old woman. Due to tumour expansion in the proximal part of the thigh MRI was performed and demonstrated extensive tumour originating most probably from the obturator nerve. The patient had no neurological symptoms. Biopsy from the lesion was taken at the Department of Orthopaedics with the following conclusion: malignant schwannoma. The patient received neoadjuvant chemotherapy due to diffuse metastatic spread on the chest X ray, after which metastatic spread subsided. The main lesion reduced its size by 1 cm. In 4 months after biopsy the patient was referred for operation to neurosurgery. The tumour was removed along its borders and except of minimal weakness of adduction of the right thigh there was no neurological deterioration. She was subsequently referred for further care to oncology and radiotherapy.The goal of this work is to emphasize the extremely rare occurrence of tumours of this nerve and suggest therapeutic options (Fig. 4, Ref. 11). PMID:24156686

  16. A large retroperitoneal malignant solitary fibrous tumor.

    PubMed

    Yoh, Tomoaki; Sata, Ritsuko; Kobayashi, Atsushi; Wada, Seidai; Nakamura, Yuya; Kato, Tatsushi; Nakayama, Hiroyuki; Okamura, Ryuji

    2014-01-01

    Abstract We report on a large, retroperitoneal, malignant, solitary fibrous tumor (SFT) with high proliferation activity. A 43-year-old man was admitted to our department complaining of a palpable mass. Computed tomography (CT) and magnetic resonance imaging (MRI) revealed a large retroperitoneal tumor occupying the entire abdominal cavity. A laparotomy was performed for diagnosis and treatment, which revealed a tumor in the retroperitoneum but with no invasion to the surrounding organs, thereby allowing safe macroscopic excision. Histologically, the tumor was composed of spindle-shaped cells with patternless pattern and a hemangiopericytomatous appearance. Moreover, immunohistochemical staining was positive for CD34, vimentin, Bcl-2, and CD99 and negative for desmin, S-100p, and smooth muscle actin (AMA). The tumor exhibited high cellularity, moderate mitotic activity, pleomorphism, necrosis, and hemorrhagic changes. In addition, the Ki-67 labeling index was 37%. These findings confirmed the diagnosis of malignant SFT with high proliferation activity. Subsequently, adjuvant doxorubicin plus ifosfamide chemotherapy was performed. No signs of recurrence were observed 12 months after the surgery. PMID:25058776

  17. Metallic stents in malignant biliary obstruction

    SciTech Connect

    Rieber, Andrea; Brambs, Hans-Juergen [University of Ulm, Department of Diagnostic Radiology (Germany)

    1997-01-15

    Purpose. Retrospective analysis of our results with metallic stent placement for malignant biliary strictures. We sought to determine parameters that influence stent patency. Methods. A total of 95 Wallstents were implanted in 65 patients (38 men, 27 women; mean age, 65.1 years) with malignant biliary obstruction. Serum bilirubin levels were assessed in 48 patients; the mean value prior to intervention was 15.0 mg/dl. Results. In 12 patients (21%) complications occurred as a result of percutaneous transhepatic drainage. Stent implantation was complicated in 13 patients, but was possible in all patients. A significant decrease in bilirubin level was seen in 83.3% of patients following stent implantation. Approximately 30% of patients developed recurrent jaundice after a mean 97.1 days. In 9 patients (15%) the recurrent jaundice was caused by stent occlusion due to tumor growth. The mean follow-up was 141.8 days, the mean survival 118.7 days. Patients with cholangiocarcinomas and gallbladder carcinomas had the best results. Worse results were seen in patients with pancreatic tumors and with lymph node metastases of colon and gastric cancers. Conclusions. The main predictive factors for occlusion rate and survival are the type of primary tumor, tumor stage, the decrease in bilirubin level, and the general condition of the patient.

  18. Malignant melanoma masqueraded as ingrown toe nail.

    PubMed

    Adnan, A; Bajuri, M Y; Shukur, M H; Subanesh, S; Das, S

    2014-01-01

    We report a case in a 62-year-old female who presented with a year history of dull aching pain of the left big toe, which was aggravated by pressure on the nail and relieved by analgesia. Tissue biopsy confirmed the diagnosis of malignant melanoma. There was a black colour swelling about 3x8 mm in size over the medial side of the dorsum of left big toe with a scar of previous operation. Histopathological examination showed on gross section of 2 blackish area one infiltrate the bone the other the tumour not infiltrate the proximal interphalangial joint with another satellite lesion 20mm from main tumour area was found. Malignant cells were large with abundant cytoplasm, hyperchromatic nuclei and some prominent eosinophilic nucleoli. Melanin pigment was markedly seen. The big toe was amputated. We here highlight a case where the patient was diagnosed and managed as having ingrown nail of the left big toe while in actual fact she had a subungual amelanotic melanoma. PMID:24589950

  19. Palliative treatment for symptomatic malignant pericardial effusion†.

    PubMed

    Jama, Guled M; Scarci, Marco; Bowden, Jack; Marciniak, Stefan J

    2014-12-01

    Consensus has yet to emerge regarding the optimal choice of therapy in the management of malignant pericardial effusion. We review the literature to evaluate the existing evidence on the clinical effectiveness of surgical and interventional cardiological approaches. A formal literature search for all studies addressing the treatment of pericardial effusion in cancer patients was undertaken using predefined keywords. Abstracts were screened and reviewed, and data extracted. Data on intervention type, number of patients treated, number of patients surviving the procedure, effusion recurrences, need for further interventions and procedure-related complications were obtained from each study and collated in a quantitative synthesis. Of 1181 articles identified, 59 contained sufficient quantitative information to be included in the synthesis. A total of 2322 patients with symptomatic pericardial effusion were identified, of which 1399 patients were reported to have underlying malignancy. Three surgical approaches were described in a total of 19 studies, with overall success rates ranging from 93.3 to 100% and associated complication rates ranging from 4.5 to 10.3%. The remaining 40 studies reported four non-surgical treatment modalities, with success rates of 55.1-90.4% and complication rates of 5.9-32%. Data from the literature suggest that surgical drainage of the pericardium is superior to non-surgical approaches for symptom relief, effusion recurrence and morbidity; however, the lack of randomized controlled trials means that selection bias remains an important limitation to the field and definitive adequately controlled trials should be a priority. PMID:25142067

  20. Preoperative cutaneous lymphoscintigraphy in malignant melanoma

    SciTech Connect

    Lock-Andersen, J.; Rossing, N.; Drzewiecki, K.T.

    1989-01-01

    To identify the regional lymph node basins cutaneous lymphoscintigraphy with technetium 99m rhenium sulfide colloid (/sup 99m/Tc-ReS) was performed in 45 patients and with technetium 99m antimony sulfide colloid (/sup 99m/Tc-Sb2S3) in seven patients after excisional biopsy of the primary tumor. All patients had skin tumors located in the face or neck or on the trunk with 47 cases of cutaneous malignant melanoma and 5 cases of benign or premalignant lesions. In 48 patients the scintiscans 1 hour after perilesional injection of the tracer colloid clearly showed the lymphatic drainage patterns from the tumor sites, of them 25 patients demonstrated unidirectional drainage, whereas the remaining 23 patients had multidirectional drainage to two or three lymph node groups. There were technical difficulties in performing the examinations in four patients. The authors recommend cutaneous lymphoscintigraphy as a safe, simple and reliable technique for mapping the lymphatic drainage preoperatively in patients with Stage I cutaneous malignant melanoma of axial localization.

  1. Cellular suicide therapy of malignant disease.

    PubMed

    Link, C J; Seregina, T; Traynor, A; Burt, R K

    2000-01-01

    Adoptive cellular therapy is developing as a supplement or alternative to chemotherapy and/or radiation for malignant disease. Our focus is two ongoing clinical studies with transgeneic (genetically altered) cellular therapy; one uses allogeneic (from another person) lymphocytes to treat leukemia, and the second uses xenogeneic (from another species) fibroblast cells genetically altered to contain a toxin-producing suicide gene to treat ovarian cancer. Allogeneic donor lymphocyte infusions (DLI) are known to induce remission of hematologic malignancies. However, the toxicity associated with DLI is related to graft-versus-host-disease, which is due to donor lymphocytes attacking normal tissue in the recipient. Therefore, we have taken the approach of infusing DLI that have been modified to contain a latent suicide gene to treat leukemia. To treat ovarian cancer, we used xenogeneic nonimmune fibroblast-derived cells to deliver a tumor-directed cytotoxic gene to carcinoma cells. These cells release HStk transgene retroviruses that in turn transduce replicating tumor cells but not quiescent epithelium, rendering the tumor selectively susceptible to ganciclovir-mediated killing. These initial trials summarize the early stage of allogeneic/xenogeneic adoptive cellular therapy for cancer, and although the data are limited, it is encouraging to see some patients with evidence of antitumor responses. Advances in our understanding of the basic science of these treatments, together with improvements in the technology of vector design, will be required to stream-line these methodologies into broader application. PMID:10706652

  2. Malignant edema in postpartum dairy cattle.

    PubMed

    Odani, Jenee S; Blanchard, Patricia C; Adaska, John M; Moeller, Robert B; Uzal, Francisco A

    2009-11-01

    Five cases of postparturient vulvovaginitis and metritis in cattle caused by Clostridium septicum (malignant edema) are described in the current report. The diagnosis was established based on detection of C. septicum by culture and fluorescent antibody test. All animals were Holsteins, and 4 were primiparous (the parity of 1 animal was not reported). All animals developed clinical signs 1-3 days after calving, consisting of swelling of perineal and perivulvar areas, fever, and depression. Perineal, perivulvar, and perivaginal gelatinous and often hemorrhagic edema was consistently observed on gross examination. Longitudinal vulvar, vaginal, cervical, and uterine body tears, covered by fibrinous exudates, were also present. Microscopically, vulvar, vaginal, and uterine mucosae were multifocally necrotic and ulcerated. Large Gram-positive rods, some with subterminal spores, were present within the edematous subcutaneous and submucosal tissues. Clostridium septicum was demonstrated by culture and/or fluorescent antibody test in tissues of most animals. These cases of malignant edema were considered to be produced by C. septicum and predisposed by the trauma occurring during parturition. PMID:19901305

  3. Gynaecological Malignancies from Palliative Care Perspective

    PubMed Central

    Mishra, Kamlesh

    2011-01-01

    Of the approximately 80,000 new cases of all cancers detected every year in India, 10–15% are gynecological malignancies. As per population-based registries under the National Cancer Registry Program, the leading sites of cancer among women are the cervix uteri, breast, and oral cavity. About 50–60% of all cancers among women in India are mainly of the following four organs: cervix uteri, breast, corpus uteri, and ovaries. Over 70% of these women report for diagnostic and treatment services at an advanced stage of disease, resulting in poor survival and high mortality rates. Among all gynecological cancers, ovarian cancer is the deadliest one and, in 2/3rd of the cases, is detected in an advanced stage. But, in India and in other developing countries, due to inadequate screening facilities for the preventable cancer cervix, this kills more women than any other cancer in females. Gynecology Oncologist as a sub-specialist has an immensely important role in curtailing the menace of gynecological malignancies by providing comprehensive preventive, curative, palliative and follow-up services, with the aim of assuring a good quality of life to women as a cornerstone of cancer management. PMID:21811372

  4. Intermittent everolimus administration for malignant insulinoma

    PubMed Central

    Brizzi, Maria Pia; Tampellini, Marco; Scagliotti, Giorgio Vittorio; Priola, Adriano; Terzolo, Massimo; Pia, Anna; Berruti, Alfredo

    2014-01-01

    Summary Insulinoma is a rare form of insulin-secreting pancreatic islet cell neuroendocrine (NE) tumor. The medical treatment of the malignant NE disease of the pancreas deeply changed in the last years, thanks to the introduction of new target molecules, as everolimus. Even if the exact mechanism is not actually known, one of the side effects of everolimus, hyperglycemia, has been demonstrated to be useful to contrast the typical hypoglycemia of the insulinoma. We report the case of a patient with a metastatic malignant insulinoma treated with intermittent everolimus, obtaining an important improvement in the quality of life; this suggests the necessity of preclinical studies to analyze the cellular pathways involved in insulin-independent gluconeogenesis. Learning points Effect of somatostatin analogs is long-lasting in the control of functioning NE tumors.Persistent everolimus control of hypoglycemia despite serum insulin levels and disease progression.Open issue: are disease progression and the increase in serum markers the only valid criteria to reject a treatment? PMID:25298880

  5. Hyperglycemia in patients with hematologic malignancies.

    PubMed

    Healy, Sara J; Dungan, Kathleen M

    2015-03-01

    Patients with hematologic malignancies are at high risk for hyperglycemia due to factors such as frequent exposure to glucocorticoids, immunosuppressants, total parenteral nutrition, and medical stress. Hyperglycemia in these patients has been associated with poor outcomes including increased risk of infection, organ dysfunction, durability of remission, graft-versus-host disease, and mortality. However, the appropriate glucose targets are not well established, and there are few prospective data assessing whether glucose control improves outcomes. HbA1c should be interpreted with caution in patients with hematologic malignancies, due to inaccuracies imposed by disordered hematopoiesis and frequent transfusions, and short-term perturbations imposed by acute illness or medications. Management of diabetes or glucocorticoid-induced hyperglycemia in the hospital generally requires insulin therapy, which is tailored based upon nutritional needs, baseline glucose control, and concomitant factors such as type and dose of glucocorticoid administration. Close follow-up and adjustment of therapy, ideally with the assistance of patient self-titration algorithms, is required after discharge. Patients are at increased long-term risk for developing diabetes and therefore should undergo regular screening. PMID:25644817

  6. Fludarabine Based Conditioning for Allogeneic Transplantation for Advanced Hematologic Malignancies

    ClinicalTrials.gov

    2014-03-27

    Acute Myeloid Leukemia; Acute Leukemia; Chronic Myelogenous Leukemia; Malignant Lymphoma; Hodgkin's Disease; Multiple Myeloma; Lymphocytic Leukemia; Myeloproliferative Disorder; Polycythemia Vera; Myelofibrosis; Aplastic Anemia

  7. Primary malignant melanoma of the penis with secondary to adrenal.

    PubMed

    Islam, M R; Siddique, M I; Joarder, A I; Ahmed, S U; Karim, S S; Hossain, M J

    2015-01-01

    Primary malignant melanoma of penis with secondaries to the adrenal gland is rare. Here we report a case of malignant melanoma of penis in a 60 years old man who presented with intermittent gross, episodic haematuria of 11 months duration and a hard indurated pigmented fungating lesion over the glans penis. Following an initial tissue biopsy from the penile growth which revealed malignant melanoma the patient underwent partial Panectomy. Few days after recovery the patient underwent laparotomy and incisional biopsy from adrenal mass revealed metastatic malignant melanoma histopathologically. PMID:25725691

  8. Prenatal corticosteroids modify glutamatergic and GABAergic synapse genomic fabric: insights from a novel animal model of infantile spasms.

    PubMed

    Iacobas, D A; Iacobas, S; Chachua, T; Goletiani, C; Sidyelyeva, G; Velíšková, J; Velíšek, L

    2013-11-01

    Prenatal exposure to corticosteroids has long-term postnatal somatic and neurodevelopmental consequences. Animal studies indicate that corticosteroid exposure-associated alterations in the nervous system include hypothalamic function. Infants with infantile spasms, a devastating epileptic syndrome of infancy with characteristic spastic seizures, chaotic irregular waves on interictal electroencephalogram (hypsarhythmia) and mental deterioration, have decreased concentrations of adrenocorticotrophic hormone (ACTH) and cortisol in cerebrospinal fluid, strongly suggesting hypothalamic dysfunction. We have exploited this feature to develop a model of human infantile spasms by using repeated prenatal exposure to betamethasone and a postnatal trigger of developmentally relevant spasms with NMDA. The spasms triggered in prenatally primed rats are more severe compared to prenatally saline-injected ones and respond to ACTH, a treatment of choice for infantile spasms in humans. Using autoradiography and immunohistochemistry, we have identified a link between the spasms in our model and the hypothalamus, especially the arcuate nucleus. Transcriptomic analysis of the arcuate nucleus after prenatal priming with betamethasone but before trigger of spasms indicates that prenatal betamethasone exposure down-regulates genes encoding several important proteins participating in glutamatergic and GABAergic transmission. Interestingly, there were significant sex-specific alterations after prenatal betamethasone in synapse-related gene expression but no such sex differences were found in prenatally saline-injected controls. A pairwise relevance analysis revealed that, although the synapse gene expression in controls was independent of sex, these genes form topologically distinct gene fabrics in males and females and these fabrics are altered by betamethasone in a sex-specific manner. These findings may explain the sex differences with respect to both normal behaviour and the occurrence and severity of infantile spasms. Changes in transcript expression and their coordination may contribute to a molecular substrate of permanent neurodevelopmental changes (including infantile spasms) found after prenatal exposure to corticosteroids. PMID:23763471

  9. Prenatal corticosteroids modify glutamatergic and GABAergic synapse genomic fabric: Insights from a novel animal model of infantile spasms

    PubMed Central

    Iacobas, D.A.; Iacobas, S.; Chachua, T.; Goletiani, C.; Sidyelyeva, G.; Velíšková, J.; Velíšek, L.

    2013-01-01

    Summary Prenatal exposure to corticosteroids has long-term postnatal somatic and neurodevelopmental consequences. Animal studies indicate that corticosteroid exposure-associated alterations in the nervous system include hypothalamic function. Infants with infantile spasms, a devastating epileptic syndrome of infancy with characteristic spastic seizures, chaotic irregular waves on interictal electroencephalogram (EEG; hypsarhythmia) and mental deterioration, have decreased concentrations of adrenocorticotropic hormone (ACTH) and cortisol in cerebrospinal fluid strongly suggesting hypothalamic dysfunction. We have exploited this feature to develop a model of human infantile spasms by using repeated prenatal exposure to betamethasone and postnatal trigger of developmentally relevant spasms with N-methyl-D-aspartic acid (NMDA). The spasms triggered in prenatally primed rats are more severe compared to prenatally saline-injected ones and respond to ACTH, a treatment of choice for infantile spasms in humans. Using autoradiography and immunohistochemistry, we have identified a link between the spasms in our model and hypothalamus, especially the arcuate nucleus. Transcriptomic analysis of the arcuate nucleus after prenatal priming with betamethasone but before trigger of spasms indicates that prenatal betamethasone exposure down-regulates genes encoding several important proteins participating in glutamatergic and GABAergic transmission. Interestingly, there were significant sex-specific alterations after prenatal betamethasone in synapse-related gene expression but no such sex differences were found in prenatally saline-injected controls. A pair-wise relevance analysis revealed that, although the synapse gene expression in controls was independent of sex, these genes form topologically distinct gene fabrics in males and females and these fabrics are altered by betamethasone in a sex-specific manner. These findings may explain the sex differences in both normal behaviour and occurrence and severity of infantile spasms. Changes in transcript expression and their coordination may contribute to a molecular substrate of permanent neurodevelopmental changes (including infantile spasms) found after prenatal exposure to corticosteroids. PMID:23763471

  10. Cancer stem cells in haematological malignancies

    PubMed Central

    Golab, Jakub

    2015-01-01

    At least several types of human haematological malignancies can now be seen as ‘stem-cell diseases’. The best-studied in this context is acute myeloid leukaemia (AML). It has been shown that these diseases are driven by a pool of ‘leukaemia stem cells (LSC)’, which remain in the quiescent state, have the capacity to survive and self-renew, and are responsible for the recurrence of cancer after classical chemotherapy. It has been understood that LSC must be eliminated in order to cure patients suffering from haematological cancers. Recent advances in LSC research have allowed for description of LSC phenotype and identification of potential targets for anti-LSC therapies. This concise review summarises the current view on LSC biology and targeted approaches against LSC. PMID:25691816

  11. Malignant pleural mesothelioma: an epidemiological perspective

    PubMed Central

    2012-01-01

    This paper reviews the aetiology, distribution and projected future incidence of malignant mesothelioma. Asbestos exposure is the most thoroughly established risk factor. Debate continues regarding the relative importance of the different asbestos fibre types and the contribution of Simian virus 40 (SV40). Disease incidence varies markedly within and between countries. The highest annual rates of disease, approximately 30 case per million, are reported in Australia and Great Britain. The risk of disease increases with age and is higher in men. Time from asbestos exposure to disease diagnosis is on average greater than 40 years. Non-occupational asbestos exposures contribute an increasing proportion of disease. With the exception of the United States, incidence continues to increase. In developed countries peak incidence is expected to occur before 2030. PMID:23977542

  12. Non-malignant central airway obstruction.

    PubMed

    Barros Casas, David; Fernández-Bussy, Sebastian; Folch, Erik; Flandes Aldeyturriaga, Javier; Majid, Adnan

    2014-08-01

    The most common causes of non-malignant central airway obstruction are post-intubation and post-tracheostomytracheal stenosis, followed by the presence of foreign bodies, benign endobronchial tumours and tracheobronchomalacia. Other causes, such as infectious processes or systemic diseases, are less frequent. Despite the existence of numerous classification systems, a consensus has not been reached on the use of any one of them in particular. A better understanding of the pathophysiology of this entity has allowed us to improve diagnosis and treatment. For the correct diagnosis of nonspecific clinical symptoms, pulmonary function tests, radiological studies and, more importantly, bronchoscopy must be performed. Treatment must be multidisciplinary and tailored to each patient, and will require surgery or endoscopic intervention using thermoablative and mechanical techniques. PMID:24703501

  13. Adult Ocular Toxocariasis Mimicking Ciliary Body Malignancy

    PubMed Central

    Mansour, Ahmad M.; Abiad, Bachir; Boulos, Fouad I.; Alameddine, Ramzi; Maalouf, Fadi C.; Bu Ghannam, Alaa; Hamam, Rola N.

    2014-01-01

    Purpose. To discuss an unusual presentation of ocular toxocariasis. Methods. Case report. Results. A 40-year-old woman presented with decreased vision in the left eye with a long history of recurrent red eye from uveitis. Eosinophilia and positive ELISA titers for Toxocara canis favored the diagnosis of ocular toxocariasis. Over 3 months, an anterior scleral mass had a rapid growth raising the possibility of medulloepithelioma, which rarely can mimic uveitic syndromes. Surgical plan changed from local excision to enucleation. Histopathology demonstrated a large homogeneous mass of chronic inflammatory cells with inflammation of the overlying thinned out sclera, medial rectus insertion, and limbal cornea. The triad of peripheral granuloma, eosinophilia, and positive blood serology established the diagnosis of ocular toxocariasis. Conclusions. Ocular toxocariasis can mimic ocular malignancy such as medulloepithelioma in adults and rarely presents as an anterior scleral mass. PMID:25371681

  14. Ablative Therapies for Colorectal Polyps and Malignancy

    PubMed Central

    Hochwald, Steven N.; Nurkin, Steven

    2014-01-01

    Endoscopic techniques are gaining popularity in the management of colorectal polyps and occasionally superficial cancers. While their use is in many times palliative, they have proven to be curative in carefully selected patients with polyps or malignancies, with less morbidity than radical resection. However, one should note that data supporting local and ablative therapies for colorectal cancer is scarce and may be subject to publication bias. Therefore, for curative intent, these techniques should only be considered in highly select cases as higher rates of local recurrences have also been reported. The aim of this review is to explain the different modalities of local and ablative therapies specific to colorectal neoplasia and explain the indications and circumstances where they have been most successful. PMID:25089281

  15. [Cytoreductive surgery for malignant peritoneal tumors].

    PubMed

    Piso, P; Leebmann, H; März, L; Mayr, M

    2015-01-01

    Cytoreductive surgery is an essential part of a multimodality treatment concept for peritoneal metastases. Indications are primary peritoneal tumors like peritoneal mesothelioma or secondaries from colorectal cancer or pseudomyxoma peritonei. Patients with gastric or ovarian carcinoma or abdominal sarcoma with peritoneal seedings can be treated within studies. Tumor entity, tumor load, and tumor distribution are the most critical issues for patient selection. Complete macroscopic cytoreduction is the strongest prognostic factor and can be achieved by parietal and visceral peritonectomy. The operation should be performed in a standardized manner. Due to possible tumor manifestation in all four quadrants of the abdomen and extensive extraperitoneal dissection, extensive surgical and oncological expertise is prerequisite. Treatment in specialized surgical oncology centers is recommended to minimize morbidity and mortality. The German Society for General and Visceral Surgery is certifying centers of competence for surgical treatment of peritoneal malignancies. Data of all patients are documented in the HIPEC register. The inclusion of patients in studies is recommended. PMID:24722868

  16. A malignant eccrine spiradenoma of the scalp.

    PubMed

    Chow, Whitney; Griffiths, Mat

    2014-01-01

    Malignant eccrine spiradenoma (MES) is an extremely rare but aggressive tumour, resulting in high mortality. We report the first case in the UK of metastatic MES on the scalp of a 37-year-old man who initially presented with a raised nodular mass which had grown rapidly over a few months. Excision biopsy of the lesion was performed and histology confirmed MES with evidence of cytological atypia and necrosis. A further wide local excision of the lesion with a 1?cm surgical margin was performed and full clearance was achieved. At 10-month follow-up another similar lesion had developed close to the previously excised area. A CT scan demonstrated metastatic lesions in the lungs, liver and pelvis, and subsequently chemotherapy was initiated. Although MES is uncommon, it has a high propensity to metastasise, therefore prompt identification, treatment and close follow-up of these tumours is essential. PMID:24842352

  17. Nonengraftment haploidentical cellular therapy for hematologic malignancies.

    PubMed

    Reagan, John L; Fast, Loren D; Winer, Eric S; Safran, Howard; Butera, James N; Quesenberry, Peter J

    2012-01-01

    Much of the therapeutic benefit of allogeneic transplant is by a graft versus tumor effect. Further data shows that transplant engraftment is not dependant on myeloablation, instead relying on quantitative competition between donor and host cells. In the clinical setting, engraftment by competition alone is not feasible due to the need for large numbers of infused cells. Instead, low-level host irradiation has proven to be an effective engraftment strategy that is stem cell toxic but not myeloablative. The above observations served as the foundation for clinical trials utilizing allogeneic matched and haploidentical peripheral blood stem cell infusions with minimal conditioning in patients with refractory malignancies. Although engraftment was transient or not apparent, there were compelling responses in a heavily pretreated patient population that appear to result from the breaking of tumor immune tolerance by the host through the actions of IFN?, invariant NK T cells, CD8 T cells, NK cells, or antigen presenting cells. PMID:22312367

  18. Cellular immunotherapy for refractory hematological malignancies

    PubMed Central

    2013-01-01

    Background Acute myeloid leukemia (AML) and other aggressive refractory hematological malignancies unresponsive to upfront therapy remain difficult conditions to treat. Often, the focus of therapy is centered on achieving complete remission of disease in order to proceed with a consolidative stem cell transplant. At issue with this paradigm is the multitude of patients who are unable to achieve complete remission with standard chemotherapeutic options. A major benefit of transplantation is the graft versus tumor effect that follows successful engraftment. However, with this graft versus tumor effect comes the risk of graft versus host disease. Therefore, alternative treatment options that utilize immunotherapy while minimizing toxicity are warranted. Herein, we propose a novel treatment protocol in which haploidentical peripheral blood stem cells are infused into patients with refractory hematological malignancies. The end goal of cellular therapy is not engraftment but instead is the purposeful rejection of donor cells so as to elicit a potent immune reaction that appears to break host tumor tolerance. Methods/design The trial is a FDA and institutional Rhode Island Hospital/The Miriam Hospital IRB approved Phase I/II study to determine the efficacy and safety of haploidentical peripheral blood cell infusions into patients with refractory hematological malignancies. The primary objective is the overall response rate while secondary objectives will assess the degree and duration of response as well as safety considerations. Patients with refractory acute leukemias and aggressive lymphomas over the age of 18 are eligible. Donors will be selected amongst family members. Full HLA typing of patients and donors will occur as will chimerism assessments. 1-2x108 CD3+ cells/kilogram will be infused on Day 0 without preconditioning. Patients will be monitored for their response to therapy, in particular for the development of a cytokine release syndrome (CRS) that has been previously described. Blood samples will be taken at the onset, during, and following the cessation of CRS so as to study effector cells, cytokine/chemokine release patterns, and extracellular vesicle populations. Initially, six patients will be enrolled on study to determine safety. Provided the treatment is deemed safe, a total of 25 patients will be enrolled to determine efficacy. Discussion Cellular Immunotherapy for Refractory Hematological Malignancies provides a novel treatment for patients with relapsed/refractory acute leukemia or aggressive lymphoma. We believe this therapy offers the immunological benefit of bone marrow transplantation without the deleterious effects of myeloablative conditioning regimens and minus the risk of GVHD. Laboratory correlative studies will be performed in conjunction with the clinical trial to determine the underlying mechanism of action. This provides a true bench to bedside approach that should serve to further enrich knowledge of host tumor tolerance and mechanisms by which this may be overcome. Trial registration NCT01685606. PMID:23782682

  19. [Current surgical therapy for malignant pleural mesothelioma].

    PubMed

    Takuwa, Teruhisa; Hasegawa, Seiki

    2015-01-01

    Malignant pleural mesothelioma (MPM) is a rare tumor and associated with very poor prognosis. The median survival time( MST) was 8.9 months for those treated by palliative care only. For a radical treatment, total removal of the tumor is the main therapy as well as other solid tumors, but these diffuse and infiltrate growth pattern of tumor make it difficult. The MST was 13 months for patients treated by surgery only. On the other hand, MST using pemetrexed/cisplatin was 12.1 months. There are negative opinions for invasive surgical treatment such as extrapleural pneumonectomy (EPP). Currently surgical treatment of mesothelioma is conducted as part of the multidisciplinary treatment combined with chemotherapy and radiation therapy. PMID:25595163

  20. Malignancy of the larynx in a child.

    PubMed

    Prasad, K C; Abraham, P; Peter, R

    2001-08-01

    Squamous cell carcinoma of the larynx in children is rare. The management of laryngeal malignancy is more difficult in children than adults for several reasons: the aggressive nature of a tumor that is often diagnosed late in children; the delicacy of pediatric anatomic structures; intraoperative blood loss; long-term post-treatment complications; and psychological factors particular to children. A tracheostomized 13-year-old boy came to us with a 4-month history of hoarseness, breathing difficulty, and swelling in the neck. A detailed examination revealed that a transglottic tumor had infiltrated the thyroid and cricoid cartilage, the upper two tracheal rings, and the thyroid gland. Such an infiltration has not been previously reported. The lesion proved to be a well-differentiated squamous cell carcinoma. We performed a wide-field total laryngectomy, which was followed by radiotherapy. Unfortunately, the child survived only 3 years postoperatively. PMID:11523465