Sample records for infantile malignant osteopetrosis

  1. Infantile malignant osteopetrosis: report of 2 cases with osteomyelitis of the jaws.

    PubMed

    Sekerci, Ahmet Ercan; Sisman, Yildiray; Ertas, Elif Tarim; Sahman, Halil; Aydinbelge, Mustafa

    2012-01-01

    Infantile malignant osteopetrosis (IMO) is an uncommon autosomal recessive disease characterized by dense, brittle, sclerotic, radiopaque bones, which generally results in neurological and hematological abnormalities. In general, IMO is fatal, as patients fail to grow and expire due to complications of the disease such as severe chronic anemia, bleeding, and/or infections. In children with IMO, the development of the dentition is seriously disturbed. Patients with infantile osteopetrosis have a variety of signs and symptoms, including osteomyelitis of the jaws, which frequently and generally resists treatment. Infections may eventually become lethal; hence, jaw infection control is an important aspect of the disease for dentists and oral surgeons to consider. The purpose of this case report was to present 2 rare cases of pediatric patients (one of them died due to respiratory failure at 10 years old) diagnosed with osteopetrosis complicated by osteomyelitis of the jaw. PMID:22828766

  2. A fatal case of infantile malignant osteopetrosis complicated by pulmonary arterial hypertension after hematopoietic stem cell transplantation.

    PubMed

    Kuroyanagi, Yuichi; Kawasaki, Hirohide; Noda, Yukihiro; Ohmachi, Taichi; Sekiya, Shin-ichiro; Yoshimura, Ken; Ohe, Chisato; Michigami, Toshimi; Ozono, Keiichi; Kaneko, Kazunari

    2014-01-01

    Infantile malignant osteopetrosis (IMO) is a rare and fatal autosomal recessive condition characterized by a generalized increased in bone density. Hematopoietic stem cell transplantation (HSCT) is the only effective and rational therapy with achieving long-term disease-free survival. However, complications with HSCT for IMO remain unclear. Here we describe a male infant with IMO, carrying two novel mutations in the T-cell immune regulator 1 (TCIRG1) gene. The TCIRG1 gene encodes the a3 subunit of vacuolar H(+)-ATPase that plays an essential role in the resorptive function of osteoclasts. Direct sequencing of all 20 exons of the TCIRG1 gene revealed a single nucleotide change in exon 11 (c1305 G > T), which causes the substitution of Asp (GAT) for Glu (GAG) at position 435, and a two-nucleotide deletion in exon 16 (c1952-1953 del CA), causing a frame-shift mutation. However, the functional consequence of each mutation remains to be determined. Allogeneic HSCT was performed in the patient at the age of nine months. Donor engraftment was achieved, and abnormal bone metabolism and extramedullary hematopoiesis were corrected. Graft-versus-host disease was mild (grade I). However, the patient died of complication of pulmonary arterial hypertension at seven months after the HSCT. Postmortem examination revealed prominent vascular wall thickening of the pulmonary artery and macrophage infiltration to alveoli. It should be noted that a patient with IMO has a risk for pulmonary arterial hypertension, and the evaluation of pulmonary arterial flow should be included in the assessment of each patient with IMO even after HSCT. PMID:25504019

  3. Malignant osteopetrosis: hypercalcaemia after bone marrow transplantation.

    PubMed

    Rawlinson, P S; Green, R H; Coggins, A M; Boyle, I T; Gibson, B E

    1991-05-01

    A 3 year old girl presented with malignant osteopetrosis, which was treated by allogeneic bone marrow transplantation. Successful engraftment was complicated by prolonged hypercalcaemia, which was controlled by a combination of a bisphosphonate, phosphate infusions, vigorous resalination, and salmon calcitonin. She was alive and well 16 months after the transplant. PMID:2039258

  4. Hematopoietic stem cell transplantation for infantile osteopetrosis.

    PubMed

    Orchard, Paul J; Fasth, Anders L; Le Rademacher, Jennifer; He, Wensheng; Boelens, Jaap Jan; Horwitz, Edwin M; Al-Seraihy, Amal; Ayas, Mouhab; Bonfim, Carmem M; Boulad, Farid; Lund, Troy; Buchbinder, David K; Kapoor, Neena; O'Brien, Tracey A; Perez, Miguel A Diaz; Veys, Paul A; Eapen, Mary

    2015-07-01

    We report the international experience in outcomes after related and unrelated hematopoietic transplantation for infantile osteopetrosis in 193 patients. Thirty-four percent of transplants used grafts from HLA-matched siblings, 13% from HLA-mismatched relatives, 12% from HLA-matched, and 41% from HLA-mismatched unrelated donors. The median age at transplantation was 12 months. Busulfan and cyclophosphamide was the most common conditioning regimen. Long-term survival was higher after HLA-matched sibling compared to alternative donor transplantation. There were no differences in survival after HLA-mismatched related, HLA-matched unrelated, or mismatched unrelated donor transplantation. The 5- and 10-year probabilities of survival were 62% and 62% after HLA-matched sibling and 42% and 39% after alternative donor transplantation (P = .01 and P = .002, respectively). Graft failure was the most common cause of death, accounting for 50% of deaths after HLA-matched sibling and 43% of deaths after alternative donor transplantation. The day-28 incidence of neutrophil recovery was 66% after HLA-matched sibling and 61% after alternative donor transplantation (P = .49). The median age of surviving patients is 7 years. Of evaluable surviving patients, 70% are visually impaired; 10% have impaired hearing and gross motor delay. Nevertheless, 65% reported performance scores of 90 or 100, and in 17%, a score of 80 at last contact. Most survivors >5 years are attending mainstream or specialized schools. Rates of veno-occlusive disease and interstitial pneumonitis were high at 20%. Though allogeneic transplantation results in long-term survival with acceptable social function, strategies to lower graft failure and hepatic and pulmonary toxicity are urgently needed. PMID:26012570

  5. Autosomal dominant osteopetrosis and maxillomandibular osteomyelitis.

    PubMed

    Junquera, Luis; Rodríguez-Recio, Cristian; Villarreal, Pedro; García-Consuegra, Luis

    2005-01-01

    Osteopetroses represent a heterogeneous group of rare, hereditary bony dysplasias. They range from a devastating neurometabolic disease (including severe malignant infantile osteopetrosis) to 2 more benign conditions principally affecting adults: autosomal dominant osteopetrosis (ADO) type I and type II. The present study describes the maxillofacial manifestations associated with the 2 subgroups of ADO. In this paper, we present the oldest patient described in the literature with ADO type I (76 years old). We also document the first ADO type II patient described in the literature with synchronic osteomyelitis of the mandible and the maxilla. PMID:15991096

  6. Osteopetrosis ('marble bone' disease).

    PubMed

    Manusov, E G; Douville, D R; Page, L V; Trivedi, D V

    1993-01-01

    Osteopetrosis is a hereditary disorder in which pathologic alteration of osteoclast resorption of bone results in thickening of cortical and lamellar bone. Before bone marrow transplantation, the infantile recessive form was uniformly fatal within the first two decades of life as a result of invasion of the marrow space by abnormal bone formation. The adult autosomal dominant form causes minimal morbidity and is usually diagnosed incidentally on routine radiographs. Although osteopetrosis is an extremely rare disorder, the study of this disease can provide insights into the formation of bone and the inheritance of disease. PMID:8418580

  7. Osteomyelitis of the Mandible in a Patient with Osteopetrosis. Case Report and Review of the Literature

    Microsoft Academic Search

    Carlos Moreno García; María Asunción Pons García; Raúl González García; Florencio Monje Gil

    Osteopetrosis is a rare hereditary bone disorder presenting with variable clinical features and is characterized by an increase\\u000a in bone density and reduction of marrow spaces that result from a defect in the function of osteoclasts and, consequently,\\u000a a decrease in bone turnover. This disease is generally divided into three types: severe infantile malignant autosomal recessive,\\u000a intermediate mild autosomal recessive,

  8. 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

  9. Osteopetrosis: radiological & radionuclide imaging.

    PubMed

    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 (99m)Tc-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

  10. 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

  11. Maxillary osteomyelitis secondary to osteopetrosis.

    PubMed

    Hanada, T; Furuta, S; Moriyama, I; Hanamure, Y; Miyanohara, T; Ohyama, M

    1996-12-01

    A 41-year-old Japanese woman complained of a gradually enlarging swelling of her left cheek for seven months. She was diagnosed with osteopetrosis by standard skeletal radiographs, and her cheek swelling was diagnosed as maxillary osteomyelitis secondary to osteopetrosis. She underwent a left partial maxillectomy, and her post-operative course was stable with no complications. A literature review is also presented. PMID:9050105

  12. Maxillomandibular osteomyelitis associated with osteopetrosis.

    PubMed

    Infante-Cossio, Pedro; Gonzalez-Perez, Luis-Miguel; Martinez-de-Fuentes, Rafael; Infante-Cossio, Monica; Castaño-Seiquer, Antonio; Jimenez-Castellanos, Emilio

    2014-01-01

    Osteopetrosis is a heterogeneous disorder characterized by abnormal bone remodeling and increased bone density primarily due to defective osteoclast resorption. The diagnosis is based on a history of numerous fractures and radiological findings indicative of osteosclerosis, usually sufficient for a definitive diagnosis. We present a quite rare case of osteopetrosis complicated by recurrent episodes of maxillomandibular osteomyelitis associated with cutaneous fistulization and purulent nasal discharge. We used intravenous antibiotic therapy and necrotic bone debridement that prevented the appearance of acute infections over a 3-year follow-up, but the complete healing of the case was not achieved. PMID:24406610

  13. Biological characterization of avian osteopetrosis.

    PubMed Central

    Banes, A J; Smith, R E

    1977-01-01

    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

  14. [Osteomyelitis of the jaw and osteopetrosis].

    PubMed

    Khochtali, H; Abassi-Bakir, D; Korbi, S; Ezzeddine, H; Bakir, A

    1991-01-01

    Osteopetrosis (Albers-Schönberg disease) is a rare sclerosing bone disorder in which osteomyelitis of the jaws is a frequent complication. Treatment of osteomyelitis is difficult and may lead to large resection. We report three new cases and we review the literature. PMID:1896806

  15. Osteopetrosis: A New Cause of Upper Gastrointestinal Bleeding

    PubMed Central

    Shafqet, Muhammad A.; Rampertab, S. Devi; Pooran, Nakechand

    2014-01-01

    Osteopetrosis is a genetic disorder of bone remodeling caused by osteoclast dysfunction. Clinical features include short stature, frequent fractures, and recurrent infections. Abnormal bone obliterates the marrow cavity, resulting pancytopenia and extramedullary hematopoiesis in the liver and spleen. The splenomegaly can lead to left-sided portal hypertension. We report the second case of osteopetrosis-induced portal hypertension and the first case of upper gastrointestinal bleeding in a 52-year-old woman with osteopetrosis.

  16. 99Tcm-MDP Imaging of Osteopetrosis: Case Report.

    PubMed

    Zheng, Li-Chun; OuYang, Xiang-Liu; Liu, Gui-Chao; Zhang, Wen-Jun; Zhang, Xiao-Ming

    2015-06-01

    Osteopetrosis, also known as marble bone disease, is a clinically rare genetic disease, which represents a heterogeneous group of rare, inherited bone dysplasias that share the hallmark of abnormally increased bone density caused by osteoclast dysfunction. Hereby, the authors describe a case of osteopetrosis that showed increased diffuse radioactive uptake on whole body bone Tc-methylene diphosphonate imaging in a 56-year-old man, which increased universal radioactive uptake on craniofacial bone imaging, and enlargement of the limb long bone near the joints with evenly symmetrical enriched distribution of radioactivity. Osteopetrosis was made which based on these features and characteristics shown on 99Tcm-MDP imaging.Skeletal scintigraphy with Tc-methylene diphosphonate imaging is helpful to the diagnosis of osteopetrosis. There is a characteristic of osteopetrosis different from other bone metabolic diseases. PMID:26039130

  17. Scintigraphy in a patient with complicated osteopetrosis

    SciTech Connect

    Adams, B.K.

    1989-05-01

    Skeletal, reticuloendothelial and renal images were obtained on a patient with osteopetrosis using Tc-99m MDP, Tc-99m HSA millimicrospheres and Tc-99m DTPA respectively. The bone scan showed increased uptake in multiple fracture sites, in the frontal bone, and in the splayed metaphyses of long bones while the remainder of the skeleton appeared normal. Reticuloendothelial images demonstrated an absence of bone marrow activity, hepatosplenomegaly and a site of extramedullary hematopoiesis. A renogram demonstrated a left kidney displaced and distorted by the massive splenomegaly.

  18. Optic nerve decompression for osteopetrosis in early childhood.

    PubMed

    Haines, S J; Erickson, D L; Wirtschafter, J D

    1988-10-01

    Visual failure in osteopetrosis may result from retinal degeneration or compression of the optic nerve in the narrowed optic canals. We report the evaluation and treatment of five children with osteopetrosis whose optic nerve dysfunction seems to have been related to the latter etiology. Evaluation of visual function was carried out by means of behavioral observation and flash visual evoked responses. Of six nerves evaluated both pre- and postoperatively, the visual evoked responses seemed to improve in four. Three nerves were serially evaluated without an operation, and one showed changes consistent with maturation. One nerve was evaluated with serial postoperative evoked potentials and showed no change. We conclude that surgical decompression of the optic nerve in patients with documented optic nerve dysfunction and osteopetrosis allows improvement in visual function and is, therefore, an important consideration in the evaluation and management of patients with this disease. PMID:3200377

  19. Characterization of the immunosuppression accompanying virus-induced avian osteopetrosis.

    PubMed Central

    Smith, R E; Van Eldik, L J

    1978-01-01

    Infection of chickens with a myeloblastosis-associated virus which induced a high incidence of osteopetrosis was accompanied by immunosuppression. The immunosuppression was manifested in the following ways. The weight of the bursa, spleen, and thymus was depressed in infected chickens. Infected animals had a diminished capacity to form hemolytic plaques in a direct assay. Spleen cells from osteopetrotic animals did not respond to phytohemagglutinin, and the spleen and bursa had a decreased proportion of cells possessing surface immunoglobulin. Osteopetrotic animals failed to show an age-dependent increase in the proportion of cells demonstrating surface immunoglobulin that was observed in normal animals. However, several individual chickens with heavy osteopetrosis responded to antigenic stimulation in a normal fashion, indicating that although immunosuppression usually accompanies avian osteopetrosis, it may not contribute directly to abnormal bone proliferation. PMID:730367

  20. Osteopetrosis--a review and report of two cases.

    PubMed

    Filho, A M; de Castro Domingos, A; de Freitas, D Q; Whaites, E J

    2005-01-01

    We present a brief review of the rare condition of osteopetrosis together with two case reports of this disease in the same family affecting the jaws. The first in a 41-year-old woman, and the second in her 39-year-old brother. Plain films and computed tomography showed marked sclerosis of the affected bones with obliteration of the medullary cavities and thickening of the cortices as well as multiple absent and unerupted teeth. In addition radiographs showed discrete mixed radiopaque/radiolucent areas consistent with the appearance of fibro-cemento-osseous dysplasia, but which may also represent part of the overall spectrum of bone changes in osteopetrosis. PMID:15641967

  1. Cánceres infantiles

    Cancer.gov

    Los cánceres infantiles no siempre se tratan como los cánceres en adultos. La oncología pediátrica es una especialización médica que se concentra en la atención de niños con cáncer. Es importante saber que existen estos conocimientos especializados y que hay tratamientos eficaces para muchos cánceres infantiles.

  2. 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 ...

  3. Rapid gene identification in a Chinese osteopetrosis family by whole exome sequencing.

    PubMed

    Sui, Weiguo; Ou, Minglin; Liang, Jinlong; Ding, Min; Chen, Jiejing; Liu, Wei; Xiao, Ruo; Meng, Xiaohua; Wang, Lijuan; Pan, Xiaohua; Zhu, Peng; Xue, Wen; Zhang, Yue; Lin, Hua; Li, Fengyan; Zhang, Jianguo; Dai, Yong

    2013-03-10

    Osteopetrosis is a rare genetically heterogeneous disorder of bone metabolism characterized by increased skeleton density. In the past, standard methods for genetic diagnosis of osteopetrosis have primarily been performed by candidate gene screening and positional cloning. However, these methods are time and labor consumptive; and the genetic basis of approximately 30% of the cases is yet to be elucidated. Here, we employed whole exome sequencing of two affected individuals from an osteopetrosis family to identify a candidate mutation in CLCN7 (Y99C). It was identified from a total of 1757 and 1728 genetic variations found in either patient, which were then distilled using filtering strategies and confirmed using Sanger sequencing. We identified this mutation in six family members, while not in population matched controls. This mutation was previously found in osteopetrosis patients by other researchers. Our evolutionary analysis also indicated that it is under extremely high selective pressure, and is likely to be critical for the correct function of ClC-7, and thus is likely to be the responsible cause of disease. Collectively, our data further indicated that mutation (Y99C) may be a cause of osteopetrosis, and highlights the use of whole exome sequencing as a valuable approach to identifying disease mutations in a cost and time efficient manner. PMID:23296056

  4. Infantile botulism

    Microsoft Academic Search

    G E Smith; F Hinde; D Westmoreland; P R Berry; R J Gilbert

    1989-01-01

    A 4 month old boy presented with respiratory difficulty and hypotonia. Clostridium botulinum and its toxin were isolated from his faeces and he had electromyographic changes typical of infantile botulism. This is only the second case in the United Kingdom: unfamiliarity with the presentation could result in misdiagnosis.

  5. 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

  6. [Diagnosis and treatment of osteopetrosis complicated by osteomyelitis in maxilla and mandible: report of two cases].

    PubMed

    Lu, Jian-dong; Wang, Xu-dong; Shen, Guo-fang

    2007-10-01

    Two cases of osteopetrosis complicated by osteomyelitis were reported. Their clinical symptoms, pathogenic mechanism, diagnosis and treatment were analyzed concerning study the diagnosis and treatment of the disease in the maxilla and mandible. It was found that there was a close relationship between the prognosis and inheridity ways, appropriate diagnosis and treatment methods. The result indicates that the key points of therapy of osteopetrosis complicated by osteomyelitis are complete, radical resection of the infected bone and enough soft tissues to cover the surgical wound. PMID:18004492

  7. MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis

    ClinicalTrials.gov

    2015-06-19

    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; Sphingolipidosis; Gangliosidosis; Globoid Cell Leukodystrophy; Metachromatic Leukodystrophy; Niemann Pick B; Niemann Pick C Subtype 2; I-cell Disease

  8. 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

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

    ClinicalTrials.gov

    2015-04-22

    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

  10. 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

  11. Osteopetrosis complicated by osteomyelitis of the maxilla and mandible: light and electron microscopic findings.

    PubMed

    Trivellato, Alexandre Elias; Ribeiro, Michel Campos; Sverzut, Cassio Edvard; Bonucci, Ermanno; Nanci, Antonio; de Oliveira, Paulo Tambasco

    2009-12-01

    This report presents a case of osteopetrosis in a 25-year-old male, which was complicated by the development of osteomyelitis in the maxilla and mandible following traumatic injury and tooth extractions. The osteomyelitis in the mandible was refractory to marginal resection and antibiotic therapy. Partial resection with mandible reconstruction was then carried out. Light and backscattered electron scanning microscopy revealed sclerosis of spongy bone and variations in mineral density of the bone matrix. There was also a prominent periosteal bone formation in regions affected by osteomyelitis. An 18-month follow-up showed absence of active infections in the face and oral structures, with a focal area of bone exposure in the right parasymphysis. However, development of anemia and bone marrow deficiency will likely affect prognosis. The importance of preventive oral health care and dental/periodontal managements in osteopetrosis is emphasized. PMID:20596853

  12. 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

  13. Solitary infantile myofibroma of the orbital bone.

    PubMed

    Nam, Dong Heun; Moon, Hyun Seung; Chung, Dong Hae; Baek, Se Hyun

    2005-10-01

    Infantile myofibroma of the orbit is an extremely rare condition. Only a few instances of this condition have ever been reported. A 3-year-old boy visited our clinic with lateral lower eyelid swelling and a palpable mass in the left eye, which had apparently persisted for 2 months. A computed tomography scan revealed a well-circumscribed mass in the inferolateral orbital portion of the zygomatic bone, coupled with erosion of bone and orbital extension with reactive hyperostosis. Immunohistochemical stains proved positive for smooth muscle actin, supporting the diagnosis of solitary infantile myofibroma of the orbital bone (zygoma). Although rarely found in the orbit, solitary infantile myofibroma can display more aggressive or malignant neoplasm. Immunohistochemistry is integral to the differential diagnosis and a systemic evaluation for multicentric myofibroma is essential. PMID:16181295

  14. Vigabatrin for infantile spasms.

    PubMed

    Pesaturo, Kimberly A; Spooner, Linda M; Belliveau, Paul

    2011-03-01

    Infantile spasms describe a pediatric epilepsy syndrome characterized by frequent clusters of brief symmetric muscle contractions; the condition is often associated with developmental delay. When infantile spasms are accompanied by hypsarrhythmia on electroencephalogram, the condition is labeled West syndrome. The mainstay of treatment for infantile spasms is adrenocorticotropic hormone; however, vigabatrin, a vinyl derivative of ?-aminobutyric acid, has been used for the treatment of infantile spasms in Europe since 1989. In 2009, vigabatrin was approved by the United States Food and Drug Adminstration (FDA) for use as monotherapy in the treatment of infantile spasms in patients aged 1 month-2 years when the benefits of treatment outweigh the risks. Results from numerous trials examining the role of vigabatrin in infantile spasms have been published; many of these trials were small, open-label, or noncontrolled. Although clinical trials have provided some insight into the utility of vigabatrin for the treatment of infantile spasms, these studies have notable limitations. In addition, vigabatrin is associated with a black-box warning that describes the potential for permanent bilateral concentric visual field defects. Currently, vigabatrin is available through a manufacturer-sponsored program in accordance with its FDA-approved Risk Evaluation and Mitigation Strategy. Although several guidelines recommend vigabatrin as a first-line therapy for infantile spasms, specifically infantile spasms related to tuberous sclerosis, it is still unclear whether vigabatrin should supersede hormone therapy as first-line therapy. Further research comparing the two therapies is needed. PMID:21361740

  15. Targeted disruption of the Cl?/HCO3? exchanger Ae2 results in osteopetrosis in mice

    PubMed Central

    Josephsen, Kaj; Praetorius, Jeppe; Frische, Sebastian; Gawenis, Lara R.; Kwon, Tae-Hwan; Agre, Peter; Nielsen, Søren; Fejerskov, Ole

    2009-01-01

    Osteoclasts are multinucleated bone-resorbing cells responsible for constant remodeling of bone tissue and for maintaining calcium homeostasis. The osteoclast creates an enclosed space, a lacuna, between their ruffled border membrane and the mineralized bone. They extrude H+ and Cl? into these lacunae by the combined action of vesicular H+-ATPases and ClC-7 exchangers to dissolve the hydroxyapatite of bone matrix. Along with intracellular production of H+ and HCO3? by carbonic anhydrase II, the H+-ATPases and ClC-7 exchangers seems prerequisite for bone resorption, because genetic disruption of either of these proteins leads to osteopetrosis. We aimed to complete the molecular model for lacunar acidification, hypothesizing that a HCO3? extruding and Cl? loading anion exchange protein (Ae) would be necessary to sustain bone resorption. The Ae proteins can provide both intracellular pH neutrality and serve as cellular entry mechanism for Cl? during bone resorption. Immunohistochemistry revealed that Ae2 is exclusively expressed at the contra-lacunar plasma membrane domain of mouse osteoclast. Severe osteopetrosis was encountered in Ae2 knockout (Ae2?/?) mice where the skeletal development was impaired with a higher diffuse radio-density on x-ray examination and the bone marrow cavity was occupied by irregular bone speculae. Furthermore, osteoclasts in Ae2?/? mice were dramatically enlarged and fail to form the normal ruffled border facing the lacunae. Thus, Ae2 is likely to be an essential component of the bone resorption mechanism in osteoclasts. PMID:19164575

  16. A founder mutation in the TCIRG1 gene causes osteopetrosis in the Ashkenazi Jewish population.

    PubMed

    Anderson, S L; Jalas, C; Fedick, A; Reid, K F; Carpenter, T O; Chirnomas, D; Treff, N R; Ekstein, J; Rubin, B Y

    2015-07-01

    Osteopetrosis is a rare and heterogeneous genetic disorder characterized by dense bone mass that is a consequence of defective osteoclast function and/or development. Autosomal recessive osteopetrosis (ARO) is the most severe form and is often fatal within the first years of life; early hematopoietic stem cell transplant (HSCT) remains the only curative treatment for ARO. The majority of the ARO-causing mutations are located in the TCIRG1 gene. We report here the identification and characterization of an A to T transversion in the fourth base of the intron 2 donor splice site (c.117+4A?T) in TCIRG1, a mutation not previously seen in the Ashkenazi Jewish (AJ) population. Analysis of a random sample of individuals of AJ descent revealed a carrier frequency of approximately 1 in 350. Genotyping of five loci adjacent to the c.117+4A?T-containing TCIRG1 allele revealed that the presence of this mutation in the AJ population is due to a single founder. The identification of this mutation will enable population carrier testing and will facilitate the identification and treatment of individuals homozygous for this mutation. PMID:24989235

  17. Genetics Home Reference: Infantile neuroaxonal dystrophy

    MedlinePLUS

    ... to the symptoms of infantile neuroaxonal dystrophy is unknown. How common is infantile neuroaxonal dystrophy? Infantile neuroaxonal ... a very rare disorder. Its specific incidence is unknown. What genes are related to infantile neuroaxonal dystrophy? ...

  18. Histidinemia and Infantile Autism

    ERIC Educational Resources Information Center

    Kotsopoulos, S.; Kutty, K. M.

    1979-01-01

    The article presents a case history of a boy with both infantile autism and histidenia (an inborn error of amino acid metabolism), and discusses the possible relationship between the two conditions. (DLS)

  19. Autosomal dominant type I osteopetrosis is related with iatrogenic fractures in arthroplasty.

    PubMed

    van Hove, Ruud P; de Jong, Tjitte; Nolte, Peter A

    2014-12-01

    Autosomal dominant osteopetrosis (ADO) is a sclerotic bone disorder due to failure of osteoclasts. ADO poses difficulties during arthroplasty because of the increased chance for iatrogenic fractures due to sclerotic bone. ADO is divided into two types based on radiological findings, fracture risk, and osteoclast activity. These differences suggest less brittle bone in patients with ADO I compared to that of patients with ADO II, which suggests a smaller chance of preoperative fractures during cementless arthroplasty in ADO I compared with that in ADO II. A case of cementless total knee arthroplasty in a patient with ADO I is presented. Total hip arthroplasty was performed during follow-up, and known major problems related to ADO II were experienced. Therefore, the differences between ADO I and ADO II may not be clinically relevant for an iatrogenic fracture during arthroplasty in patients with ADO. PMID:25436076

  20. Overexpression of a novel osteopetrosis-related gene CCDC154 suppresses cell proliferation by inducing G2/M arrest

    PubMed Central

    Liao, Wanqin; Zhao, Rongsen; Lu, Liting; Zhang, Rongrong; Zou, Jiawei; Xu, Tao; Wu, Changjie; Tang, Jiajia; Deng, Yuezhen; Lu, Xincheng

    2012-01-01

    Osteopetrosis, a disorder of skeletal bone, can cause death during childhood. We previously described a new spontaneous autosomal recessive osteopetrosis mouse mutant, “new toothless” (ntl). In this study, we reported for the first time the identification, cloning and characterization of the coiled-coil domain-containing 154 (CCDC154), a novel gene whose deletion of ~5 kb sequence including exons 1–6 was completely linked to the ntl mutant. The CCDC154 was conserved between mouse and human and is wildly expressed in mouse tissues. The cellular localization of CCDC154 was in the early endosomes. Overexpression of CCDC154 inhibited cell proliferation of HEK293 cells by inducing G2/M arrest. CCDC154 also inhibited tumor cell growth, and the soft agar assay revealed a significant decrease of the colony size of Hela cells upon transfection of CCDC154. Our results indicate that CCDC154 is a novel osteopetrosis-related gene involved in cell cycle regulation and tumor suppression growth. PMID:22895184

  1. Propranolol (Infantile Hemangioma)

    MedlinePLUS

    Propranolol oral solution is used to treat proliferating infantile hemangioma (benign [noncancerous] growths or tumors appearing on or under the skin ... Propranolol comes as an oral solution (liquid) to take by mouth. ... is usually taken twice daily (9 hours apart) during or immediately after a ...

  2. Infantile Refsum Disease: Case Report

    Microsoft Academic Search

    Vaishali Choksi; Ellen Hoeffner; Ercan Karaarslan; Cengiz Yalcinkaya; Sinan Cakirer

    Summary: Infantile Refsum disease is a rare inborn error of phytanic acid metabolism. It is inherited in an autoso- mal recessive manner and frequently causes signs and symptoms in the neonate period. The only source of phy- tanic acid in humans is exogenous, from diet. We report the MR imaging findings in two cases of infantile Refsum disease and note

  3. 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

  4. Instantánea de los cánceres infantiles

    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.

  5. 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

  6. Malignant pheochromocytoma.

    PubMed

    Pande, A K

    1992-03-01

    We present an interesting case of paroxysmal hypertension in a young male caused by malignant pheochromocytoma. This patient, who had history of paroxysms of abdominal pain with severe hypertension, developed osseous metastasis in the first lumbar vertebra resulting in collapse of the vertebra and it caused paraplegia. The diagnosis of pheochromocytoma was confirmed on histopathology. PMID:1563860

  7. Distinct roles of enhancer nuclear factor 1 (NF1) sites in plasmacytoma and osteopetrosis induction by Akv1-99 murine leukemia virus

    SciTech Connect

    Sorensen, Karina Dalsgaard [Department of Molecular Biology, University of Aarhus, C.F. Mollers Alle, Building 130, DK-8000 Aarhus C (Denmark); Sorensen, Annette Balle [Department of Molecular Biology, University of Aarhus, C.F. Mollers Alle, Building 130, DK-8000 Aarhus C (Denmark); Quintanilla-Martinez, Leticia [Institute of Pathology, GSF-National Research Center for Environment and Health, Neuherberg (Germany); Kunder, Sandra [Institute of Pathology, GSF-National Research Center for Environment and Health, Neuherberg (Germany); Schmidt, Joerg [Department of Comparative Medicine, GSF-National Research Center for Environment and Health, Neuherberg (Germany); Pedersen, Finn Skou [Department of Molecular Biology, University of Aarhus, C.F. Mollers Alle, Building 130, DK-8000 Aarhus C (Denmark) and Department of Medical Microbiology and Immunology, University of Aarhus (Denmark)]. E-mail: fsp@mb.au.dk

    2005-04-10

    Murine leukemia viruses (MLVs) can be lymphomagenic and bone pathogenic. In this work, the possible roles of two distinct proviral enhancer nuclear factor 1 (NF1) binding sites in osteopetrosis and tumor induction by B-lymphomagenic Akv1-99 MLV were investigated. Akv1-99 and mutants either with NF1 site 1, NF1 site 2 or both sites disrupted induced tumors (plasma cell proliferations by histopathology) with remarkably similar incidence and mean latency in inbred NMRI mice. Clonal immunoglobulin gene rearrangement detection, by Southern analysis, confirmed approximately half of the tumors induced by each virus to be plasmacytomas while the remaining lacked detectable clonally rearranged Ig genes and were considered polyclonal; a demonstration that enhancer NF1 sites are dispensable for plasmacytoma induction by Akv1-99. In contrast, X-ray analysis revealed significant differences in osteopetrosis induction by the four viruses strongly indicating that NF1 site 2 is critical for viral bone pathogenicity, whereas NF1 site 1 is neutral or moderately inhibitory. In conclusion, enhancer NF1 sites are major determinants of osteopetrosis induction by Akv1-99 without significant influence on viral oncogenicity.

  8. 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

  9. [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

  10. 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

  11. [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

  12. Genetics Home Reference: X-linked infantile nystagmus

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > X-linked infantile nystagmus On this page: Description Genetic ... names Glossary definitions Reviewed September 2009 What is X-linked infantile nystagmus? X-linked infantile nystagmus is ...

  13. Malignant mesothelioma

    PubMed Central

    Ahmed, Ishtiaq; Ahmed Tipu, Salman; Ishtiaq, Sundas

    2013-01-01

    Malignant Mesothelioma (MM) is a rare but rapidly fatal and aggressive tumor of the pleura and peritoneum with limited knowledge of its natural history. The incidence has increased in the past two decades but still it is a rare tumor. Etiology of all forms of mesothelioma is strongly associated with industrial pollutants, of which asbestos is the principal carcinogen. Mesothelioma is an insidious neoplasm arising from mesothelial surfaces i.e., pleura (65%-70%), peritoneum (30%), tunica vaginalis testis, and pericardium (1%-2%). The diagnosis of peritoneal and Pleural mesothelioma is often delayed, due to a long latent period between onset and symptoms and the common and nonspecific clinical presentation. The definite diagnosis can only be established by diagnostic laparoscopy or open surgery along with biopsy to obtain histological examination and immunocytochemical analysis. Different treatment options are available but Surgery can achieve a complete or incomplete resection and Radical resection is the preferred treatment. Chemotherapy has an important role in palliative treatment. Photodynamic therapy is also an option under trial. Patients who successfully underwent surgical resection had a considerably longer median survival as well as a significantly higher 5-year survival. Source of Data/Study Selection: The data were collected from case reports, cross-sectional studies, Open-label studies and phase –II trials between 1973-2012. Data Extraction: Web sites and other online resources of American college of surgeons, Medline, NCBI and Medscape resource centers were used to extract data. Conclusion: Malignant Mesothelioma (MM) is a rare but rapidly fatal and aggressive tumor with limited knowledge of its natural history. The diagnosis of peritoneal and Pleural mesothelioma is often delayed, so level of index of suspicion must be kept high. PMID:24550969

  14. Neuroimaging findings in infantile GM1 gangliosidosis

    Microsoft Academic Search

    Ilknur Erol; Füsun Alehan; M. Ali Pourbagher; Oguz Canan; S. Vefa Yildirim

    2006-01-01

    GM1 gangliosidosis is an autosomal recessive glycosphingolipid storage disease caused by defects in the enzyme ?-galactosidase. Three clinical forms (infantile-, juvenile-, and adult-onset) of the disease are recognized. Patients with infantile GM1 gangliosidosis present at birth or shortly thereafter with somatic and bony changes, followed by severe neurological deterioration ultimately leading to death within the first 2 years of life.

  15. Infantile pericardial round cell tumor

    PubMed Central

    Sridevi, KH; Awasthy, Neeraj; Singh, Virender; Rana, Seema; Sharma, Rajesh

    2015-01-01

    Cardiac malignancies presenting in infancy are rare. Desmoplastic small round cell tumor (DSRCT) is a rare occurrence in this age group. No case of intrapericardial DSRCT has been reported in the literature in infants.

  16. Congenital infantile fibrosarcoma in a very low-birth-weight infant.

    PubMed

    Mukai, Motoi; Sameshima, Hiroshi; Kodama, Yuki; Yamashita, Rie; Kaneko, Masatoki; Ikenoue, Tsuyomu; Matsufuji, Hiroshi; Kondo, Kazuhiro; Chijiiwa, Kazuo

    2012-04-01

    We describe a prenatally diagnosed case with congenital infantile fibrosarcoma, which is a rare malignant tumor, of which there have been only 14 cases reported in the English literature. A giant mass on the left thigh was detected at 24 weeks' gestation by prenatal ultrasonography. Because of its rapid growth and nonreassuring fetal status in utero, the baby was delivered by cesarean delivery at 27 weeks' gestation. The case was complicated by hemorrhagic anemia, coagulopathy, and cardiac failure, and a tumor resection was performed on day 3. As of age 2.5 years, he was healthy without evidence of recurrence. Because some fetal cases with congenital infantile fibrosarcoma have a poor prognosis, termination of pregnancy at an appropriate time and postnatal early treatment are crucial for successful treatment. PMID:22498408

  17. Oral Propranolol for Infantile Hemangioma.

    PubMed

    2015-07-16

    To the Editor: The article by Léauté-Labrèze et al. (Feb. 19 issue)(1) emphasizes the therapeutic efficacy and the short-term safety of propranolol in the treatment of infantile hemangiomas. However, recent studies raise concerns about potential long-term neurodevelopmental or cognitive effects of the highly lipophilic propranolol.(2) Indeed, lipophilic beta-blockers cross the blood-brain barrier, leading to sleep and memory disturbances.(3) For example, sleep disturbance, somnolence, and irritability have been observed in many infants treated with propranolol,(4) and this drug has been shown to decrease specific memory functions in adults.(5) A recent review suggested the possibility that blockage of neural pathways critical for . . . PMID:26176392

  18. Oral Propranolol for Infantile Hemangioma.

    PubMed

    Tozzi, Arturo

    2015-07-16

    To the Editor: The article by Léauté-Labrèze et al. (Feb. 19 issue)(1) emphasizes the therapeutic efficacy and the short-term safety of propranolol in the treatment of infantile hemangiomas. However, recent studies raise concerns about potential long-term neurodevelopmental or cognitive effects of the highly lipophilic propranolol.(2) Indeed, lipophilic beta-blockers cross the blood-brain barrier, leading to sleep and memory disturbances.(3) For example, sleep disturbance, somnolence, and irritability have been observed in many infants treated with propranolol,(4) and this drug has been shown to decrease specific memory functions in adults.(5) A recent review suggested the possibility that blockage of neural pathways critical for . . . PMID:26176393

  19. Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

    PubMed Central

    Campeau, Philippe M.; Lu, James T.; Sule, Gautam; Jiang, Ming-Ming; Bae, Yangjin; Madan, Simran; Högler, Wolfgang; Shaw, Nicholas J.; Mumm, Steven; Gibbs, Richard A.; Whyte, Michael P.; Lee, Brendan H.

    2012-01-01

    Dysosteosclerosis (DSS) is the form of osteopetrosis distinguished by the presence of skin findings such as red-violet macular atrophy, platyspondyly and metaphyseal osteosclerosis with relative radiolucency of widened diaphyses. At the histopathological level, there is a paucity of osteoclasts when the disease presents. In two patients with DSS, we identified homozygous or compound heterozygous missense mutations in SLC29A3 by whole-exome sequencing. This gene encodes a nucleoside transporter, mutations in which cause histiocytosis–lymphadenopathy plus syndrome, a group of conditions with little or no skeletal involvement. This transporter is essential for lysosomal function in mice. We demonstrate the expression of Slc29a3 in mouse osteoclasts in vivo. In monocytes from patients with DSS, we observed reduced osteoclast differentiation and function (demineralization of calcium surface). Our report highlights the pleomorphic consequences of dysfunction of this nucleoside transporter, and importantly suggests a new mechanism for the control of osteoclast differentiation and function. PMID:22875837

  20. Genetics Home Reference: Osteopetrosis

    MedlinePLUS

    ... spinal abnormalities, arthritis in the hips, and a bone infection called osteomyelitis. These problems usually become apparent in late childhood ... inherit ; inheritance ; inheritance pattern ; inherited ; kidney ; lymphedema ; mutation ; ... pattern of inheritance ; recessive ; renal ; scoliosis ; sex chromosomes ; ...

  1. 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

  2. Infantile hypertrophic pyloric stenosis: myopathic type

    Microsoft Academic Search

    R. Dieler; J. M. Schröder; H. Skopnik; G. Steinau

    1990-01-01

    Smooth muscle cell biopsies obtained at pyloromyotomy from 37 children with infantile hypertrophic pyloric stenosis (IHPS) were studied by light and electron microscopy and compared with 6 autopsy control cases without any clinical evidence of this disorder. In cases with IHPS an apparently irregular increase in the number of smooth muscle cells by mitosis was accompanied by an increase of

  3. Helicobacter pylori and Egyptian infantile colic.

    PubMed

    Ali, Adel S A; Borei, Maher B M

    2013-08-01

    Excessive infant crying is a common and often stress-inducing condition for parents that can ultimately result in infant abuse. Although the infantile colic is reported commonly and causes appreciable distress for both parents and pediatricians, its pathogenesis remains unclear, despite 40 years of research. This work studied the role of H. pylori in infantile colic. This study was conducted in a primary health care office in Sharkia Governorate. The study included 50 infants with infantile colic according to Wessel's criteria, along with age and sex matched 50 healthy controls. All-infants without apparent cause for their colic underwent full history taking, clinical examination and H. pylori antigen in their stools. This study supports the new evidence for the role of H. pylori in the pathogenesis of infantile colic. H. pylori stool antigen was present in 31 (62%) of cases in contrast to 10 (20%) of controls (P<0.0001). Normal vaginal delivery, male, vomiting and breast feeding may be risk factors for H. pylori infection in this age period. PMID:24260811

  4. Hirschsprung's disease with infantile nephropathic cystinosis

    PubMed Central

    Mittal, Deepak; Bagga, Arvind; Tandon, Radhika; Sharma, Mehar Chand; Bhatnagar, Veereshwar

    2015-01-01

    The case of a 3-year-old boy diagnosed to have Hirschsprung's disease with infantile nephropathic cystinosis is being reported. Both these conditions are etiologically and genetically different as per current understanding and available information. The association is incidental and has not reported before in the English literature.

  5. ACTH therapy in infantile spasms: side effects

    Microsoft Academic Search

    R Riikonen; M Donner

    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

  6. 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,

  7. 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

  8. 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

  9. Imaging malignant and apparent malignant transformation of benign gynaecological disease.

    PubMed

    Lee, A Y; Poder, L; Qayyum, A; Wang, Z J; Yeh, B M; Coakley, F V

    2010-12-01

    Common benign gynaecological diseases, such as leiomyoma, adenomyosis, endometriosis, and mature teratoma, rarely undergo malignant transformation. Benign transformations that may mimic malignancy include benign metastasizing leiomyoma, massive ovarian oedema, decidualization of endometrioma, and rupture of mature teratoma. The aim of this review is to provide a contemporary overview of imaging findings in malignant and apparent malignant transformation of benign gynaecological disease. PMID:21070909

  10. Chemoembolization of hepatic malignancy

    Microsoft Academic Search

    Carin F. Gonsalves; Daniel B. Brown

    2009-01-01

    Treatment of primary and secondary hepatic malignancies with transarterial chemoembolization represents an essential component\\u000a of interventional oncology. This article discusses patient selection, procedure technique, results, and complications associated\\u000a with transarterial chemoembolization.

  11. Chemoembolization of hepatic malignancy

    Microsoft Academic Search

    Carin F. Gonsalves; Daniel B. Brown

    Treatment of primary and secondary hepatic malignancies with transarterial chemoembolization (TACE) represents an essential\\u000a component of interventional oncology. This article discusses patient selection, procedure technique, results, and complications\\u000a associated with TACE.

  12. 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).

  13. 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

  14. Neuroleptic Malignant Syndrome

    MedlinePLUS

    ... to be useful. What is the prognosis? Early identification of and treatment for individuals with neuroleptic malignant ... http://www.rarediseases.org Tel: 203-744-0100 Voice Mail 800-999-NORD (6673) Fax: 203-798- ...

  15. Asbestos-related malignancy

    SciTech Connect

    Antmann, K.; Aisner, J.

    1986-01-01

    This book contains 20 chapters. Some of the chapter titles are: The Radiology of Asbestosis and Related Neoplasms; Computed Tomography and Malignant Mesothelioma; Radiation Therapy for Pleural Mesothelioma; and Radiation Therapy of Peritoneal Mesothelioma.

  16. Malignant liver tumors.

    PubMed

    Levy, Angela D

    2002-02-01

    The primary hepatic malignancies are a diverse group of neoplasms with distinctive clinical and pathologic features. Imaging of the primary hepatic malignancies continues to be challenging. Ultrasonography, CT scanning, and MR imaging play complementary roles in the evaluation of these patients. Many [figure: see text] of these neoplasms have distinctive imaging features that may permit diagnosis. In most instances, however, biopsy is required for definitive diagnosis and treatment planning. PMID:11933586

  17. Malignant mixed mullerian tumors

    Microsoft Academic Search

    J. Ruiz Tovar; M. E. Reguero Callejas; J. I. Arano Bermejo; L. F. Capote Armas; F. González-Palacios Martínez; L. Cabañas Navarro

    2006-01-01

    Malignant mixed mullerian tumours (MMMTs) are rare neoplasms, highly aggressive and with an extremely poor prognosis, usually\\u000a arising in elderly postmenopausal women and presenting at an advanced stage. MMMTs derive from the mullerian mesodermus that\\u000a differentiates in epithelial and stromal elements, both malignant elements.\\u000a \\u000a The clinic pathological features of 3 uterine MMMTs are reported here. The patients ranged in age

  18. [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

  19. Management of Infantile Hemangiomas: Current Trends

    PubMed Central

    Sethuraman, Gomathy; Yenamandra, Vamsi K; Gupta, Vishal

    2014-01-01

    Infantile hemangiomas (IH) are common vascular tumours. IH have a characteristic natural course. They proliferate rapidly during the early infantile period followed by a period of gradual regression over several years. Most of the uncomplicated IH undergo spontaneous involution, with a small proportion of cases requiring intervention. These are children with IH in life-threatening locations, local complications like haemorrhage, ulceration and necrosis and functional or cosmetic disfigurements. Systemic corticosteroids have been the first line of treatment for many years. Recently, non-selective beta-blockers, such as oral propranalol and topical timolol, have emerged as promising and safer therapies. Other treatment options include interferon ? and vincristine which are reserved for life-threatening haemangiomas that are unresponsive to conventional therapy. This review mainly focuses on the current trends and evidence-based approach in the management of IH. PMID:25136206

  20. Infantile lobar emphysema. A case report.

    PubMed

    Kwik, R S

    1977-06-01

    A case of infantile lobar emphysema is presented. The period of weaning the infant from the ventilator is discussed, together with some suggestions for the future management of similar cases. Respiratory therapists were used to keep constant surveillance on ventilator function and inspired oxygen concentration. The use of dummies or pacifiers by infants may be detrimental in some instances. Excess humidification may increase airway resistance. PMID:871359

  1. 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

  2. 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

  3. Malignant peritoneal mesothelioma

    PubMed Central

    Munkholm-Larsen, Stine; Cao, Christopher Q; Yan, Tristan D

    2009-01-01

    Malignant mesothelioma is a highly aggressive neoplasm. The incidence of malignant mesothelioma is increasing worldwide. Diffuse malignant peritoneal mesothelioma (DMPM) represents one-fourth of all mesotheliomas. Association of asbestos exposure with DMPM has been observed, especially in males. The great majority of patients present with abdominal pain and distension, caused by accumulation of tumors and ascitic fluid. In the past, DMPM was considered a pre-terminal condition; therefore attracted little attention. Patients invariably died from their disease within a year. Recently, several prospective trials have demonstrated a median survival of 40 to 90 mo and 5-year survival of 30% to 60% after combined treatment using cytoreductive surgery and perioperative intraperitoneal chemotherapy. This remarkable improvement in survival has prompted new search into the medical science related to DMPM, a disease previously ignored as uninteresting. This review article focuses on the key advances in the epidemiology, diagnosis, staging, treatments and prognosis of DMPM that have occurred in the past decade. PMID:21160794

  4. 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

  5. Giant malignant insulinoma

    PubMed Central

    Karavias, Dimitrios; Habeos, Ioannis; Maroulis, Ioannis; Kalogeropoulou, Christina; Tsamandas, Athanasios; Chaveles, Ioannis

    2015-01-01

    Insulinomas are the most common pancreatic neuroendocrine tumors. Most insulinomas are benign, small, intrapancreatic solid tumors and only large tumors have a tendency for malignancy. Most patients present with symptoms of hypoglycemia that are relieved with the administration of glucose. We herein present the case of a 75-year-old woman who presented with an acute hypoglycemic episode. Subsequent laboratory and radiological studies established the diagnosis of a 17-cm malignant insulinoma, with local invasion to the left kidney, lymph node metastasis, and hepatic metastases. Patient symptoms, diagnostic and imaging work-up and surgical management of both the primary and the metastatic disease are reviewed. PMID:25960993

  6. Giant malignant insulinoma.

    PubMed

    Karavias, Dimitrios; Habeos, Ioannis; Maroulis, Ioannis; Kalogeropoulou, Christina; Tsamandas, Athanasios; Chaveles, Ioannis; Karavias, Dionissios

    2015-05-01

    Insulinomas are the most common pancreatic neuroendocrine tumors. Most insulinomas are benign, small, intrapancreatic solid tumors and only large tumors have a tendency for malignancy. Most patients present with symptoms of hypoglycemia that are relieved with the administration of glucose. We herein present the case of a 75-year-old woman who presented with an acute hypoglycemic episode. Subsequent laboratory and radiological studies established the diagnosis of a 17-cm malignant insulinoma, with local invasion to the left kidney, lymph node metastasis, and hepatic metastases. Patient symptoms, diagnostic and imaging work-up and surgical management of both the primary and the metastatic disease are reviewed. PMID:25960993

  7. Malignant migrating partial seizures in infancy.

    PubMed

    Coppola, Giangennaro

    2013-01-01

    The syndrome of malignant migrating partial seizures in infancy (MMPSI) was first reported in 1995, and is now included among the childhood epileptic syndromes in the revision proposal of the ILAE Commission on classification and terminology. The main clinical features are seizure onset in the first 6 months of life, occurrence of almost continuous migrating polymorphous focal seizures, associated with multifocal ictal EEG discharges, progressive deterioration of psychomotor development combined with frequent evolution of acquired microcephaly, and lack of a significant familial and etiological context. Eventually, children develop major axial hypotonia, pyramidal and extrapyramidal signs with athetotic movements and strabismus. Neuroradiological, biochemical, and genetic investigations thus far have note contributed to our knowledge about this syndrome. Etiology is still unknown, though it appears reasonable to suspect a genetic etiology for MMPSI; a channelopathy may be responsible for the age-dependent cortical neuronal hyperexcitability. Seizures are markedly drug resistant and outcome is generally severe. However, some patients may respond favourably to bromide, stiripentol associated with clonazepam, and, more recently, to levetiracetam. Vagus nerve stimulation and a ketogenic diet have been tried also but with poor or inconclusive results. Based on age at onset, MMPEI may be placed between early epileptic encephalopthies and infantile spasms. PMID:23622207

  8. Isolated infantile myofibromatosis of the upper eyelid: uncommon localization and long-term results after surgical management.

    PubMed

    Gatibelza, Marie-Eve; Vazquez, Birmania Ramos; Bereni, Natacha; Denis, Danièle; Bardot, Jacques; Degardin, Nathalie

    2012-07-01

    Myofibroma, the most common juvenile fibrous disorder in infancy, usually manifests as a solitary soft tissue tumor and less commonly as simultaneous multiple tumors in both soft tissue and bones. Infantile myofibromatosis is well described in the head and neck, but cutaneous lesions rarely occur in the periorbit and orbit, where fast growth and bone damage can mimic malignant tumors. We describe a case of a solitary periorbital myofibroma in a newborn. Treatment consisted of partial excision of the tumor. Histologic and immunohistochemistry analyses provided the diagnosis of infantile myofibromatosis. The patient remains disease-free at 10 years of age, but with some visual impairment. Infantile myofibromatosis is an uncommon tumor with exceptional periorbital involvement. Differential diagnosis can be difficult when it is solely based on histologic assessment. Immunohistochemistry evaluation demonstrating cytoplasmic actin filaments in neoplastic spindle cells confirms the diagnosis. As soon as the diagnosis is made, chest and abdominal imaging must be performed to evaluate the overall prognosis and direct treatment. The treatment of choice is early conservative surgery to minimize functional and/or esthetic damage. Complete tumor excision is not always possible. Lengthy ophthalmologic monitoring is required to detect the onset of amblyopia. PMID:22813815

  9. Gynaecological malignancies in Qatar.

    PubMed

    Ejeckam, G C; Abdulla, F; el-Sakka, M; Dauleh, W; Haseeb, F

    1994-12-01

    Gynaecological malignancies constitute 6.88% (144 of 2092) of all malignant lesions in Qatar over a 15 year period (1979-1993). Cancer of the cervix was the most common with 54.86% followed by ovarian cancer 22.91%, endometrium 15.97%, vulva and vagina 2.75% and 2.08% respectively. Malignancies of the corpus uteri were rare. No tumours of the Fallopian tubes were registered during the study period. Early marriage, frequent coitus started early in life and increasing number of pregnancies were predisposing factors for the genesis of cancer of the cervix. As in some other developing countries, cervical and ovarian neoplasms tend to occur in the younger age group. Germ cell and gonadal stromal tumours were rare in Qatar and this may suggest rarity of these tumours in women of Arab and Indian subcontinent descent. Increasing number of pregnancies seems to protect against ovarian cancer. Abortions and age at menarche do not influence the incidence of gynaecological malignancies. Our findings provide an adequate data base for planning of gynaecological cancer education, screening programmes and resource allocation in Qatar. PMID:7705247

  10. 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...

  11. 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.

  12. Therapeutic Trial of Vigabatrin in Refractory Infantile Spasms

    Microsoft Academic Search

    Catherine Chiron; Olivier Dulac; Daniel Beaumont; Leonardo Palacios; Nicole Pajot; John Mumford

    1991-01-01

    Infantile spasms usually start during the first year of life and constitute one of the most difficult types of epilepsy to treat. They carry a very poor prognosis for both epilepsy and mental development. Seventy children, including 47 infants, with intractable infantile spasms were entered into an open study with vigabatrin as add-on therapy to the usual anticonvulsant treatment. All

  13. Extending Childhood into the Teen Years: "Infantilization" and Its Consequences

    ERIC Educational Resources Information Center

    Skager, Rodney

    2009-01-01

    Young people sandwiched between childhood and adulthood often rebel when adults treat them like children rather than with the respect that acknowledges their intelligence and potential. Research and theory supporting the view of "infantilizing" adolescents has proliferated. The extent to which modern cultures infantilize youth is evident in…

  14. Agronegócio, responsabilidade social e erradicação do trabalho infantil

    Microsoft Academic Search

    Joel Orlando Bevilaqua Marin

    2008-01-01

    O artigo analisa estratégias adotadas por setores do agronegócio no campo das ações de responsabilidade social para erradicar a exploração do trabalho infantil no Brasil. No contexto da globalização da economia e da internacionalização dos direitos da infância, setores empresariais de cadeias produtivas do agronegócio passaram a desenvolver ações de responsabilidade social para combater o trabalho infantil, mediante a adesão

  15. Prevalence of infantile colic at a secondary level hospital

    Microsoft Academic Search

    Pankaj Garg

    2004-01-01

    Sir, Infantile colic is a common complaint for which mothers bring their babies to the pediatricians. The incidence reported in different studies has been between 5-19%. 1 There has been extensive research in the field and reviews from all over the world are available in the literature. 1,2 However, infantile colic remains an ignored entity in Indian literature. Surprisingly there

  16. 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…

  17. Optic nerve enlargement in infantile form of Krabbe disease

    PubMed Central

    Castilha-Neto, Dimas; Monteiro, Letícia Fernandes; Peruchi, Mirella Maccarini; Filho, João Moreno; Scarlatelli-Lima, Aline Vieira; Lin, Jaime

    2012-01-01

    Krabbe disease (KD) is an autosomal recessive lysosomal storage disorder caused by dysfunctional galactosylceramidase activity. Infantile form is the most common subtype, occurring at about 6-month of age. We present a rare case of infantile KD with magnetic resonance imaging showing white matter, thalamic and basal ganglia lesions rarely associated with an enlargement of the optic nerves bilaterally. PMID:24765480

  18. CSF B-Endorphin Levels in Patients with Infantile Autism.

    ERIC Educational Resources Information Center

    Nagamitsu, Shinichiro; And Others

    1997-01-01

    A Japanese study measured CSF (cerebrospinal fluid) levels of beta-endorphin in 19 children (ages 4-6) with infantile autism and in 3 children (ages 10-14) with Rett syndrome. In infantile autism, levels did not differ significantly from control participants (n=23). However, levels were significantly higher in those with Rett syndrome. (Author/CR)

  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. COSMC Is Overexpressed in Proliferating Infantile Hemangioma and Enhances Endothelial Cell Growth via VEGFR2

    PubMed Central

    Lee, Jian-Jr; Huang, Miao-Juei; Huang, John; Hung, Ji-Shiang; Chen, Ming-Ting; Huang, Min-Chuan

    2013-01-01

    Infantile hemangiomas are localized lesions comprised primarily of aberrant endothelial cells. COSMC plays a crucial role in blood vessel formation and is characterized as a molecular chaperone of T-synthase which catalyzes the synthesis of T antigen (Gal?1,3GalNAc). T antigen expression is associated with tumor malignancy in many cancers. However, roles of COSMC in infantile hemangioma are still unclear. In this study, immunohistochemistry showed that COSMC was upregulated in proliferating hemangiomas compared with involuted hemangiomas. Higher levels of T antigen expression were also observed in the proliferating hemangioma. Overexpression of COSMC significantly enhanced cell growth and phosphorylation of AKT and ERK in human umbilical vein endothelial cells (HUVECs). Conversely, knockdown of COSMC with siRNA inhibited endothelial cell growth. Mechanistic investigation showed that O-glycans were present on VEGFR2 and these structures were modulated by COSMC. Furthermore, VEGFR2 degradation was delayed by COSMC overexpression and facilitated by COSMC knockdown. We also showed that COSMC was able to regulate VEGF-triggered phosphorylation of VEGFR2. Our results suggest that COSMC is a novel regulator for VEGFR2 signaling in endothelial cells and dysregulation of COSMC expression may contribute to the pathogenesis of hemangioma. PMID:23424651

  1. Malignant melanoma...133 Chapter 12

    E-print Network

    Paxton, Anthony T.

    NICR/NCRI Malignant melanoma...133 Chapter 12: Malignant melanoma (C43) KEY FINDINGS - INCIDENCE During 2000-2004 incidence rates for melanoma increased with increasing affluence. o Male incidence rates and 60 female deaths from malignant melanoma in Ireland. o Among males mortality rates increased

  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. Probiotics for infantile colic: a systematic review

    PubMed Central

    2013-01-01

    Background Infantile colic is a common paediatric condition which causes significant parental distress. Increased intestinal coliform colonization in addition to alteration in Lactobacillus abundance and distribution may play an important role in its pathogenesis. The objectives of this systematic review are to evaluate the efficacy of probiotic supplementation in the reduction of crying time and successful treatment of infantile colic. Methods Literature searches were conducted of MEDLINE, EMBASE and the Cochrane Central Register of Controlled Trials. Only randomized controlled trials enrolling term, healthy infants with colic were included. A meta-analysis of included trials was performed utilizing the Cochrane Collaboration methodology. Results Three trials that enrolled 220 breastfed infants met inclusion criteria, of which 209 infants were available for analysis. Two of the studies were assessed as good quality. Lactobacillus reuteri (strains-American Type Culture Collection Strain 55730 and DSM 17 938) was the only species utilized in the therapeutic intervention. Two of the trials were industry funded. Probiotic supplementation compared to simethicone or placebo significantly and progressively shortened crying times to 7 days reaching a plateau at three weeks post initiation of therapy [mean difference ?56.03 minutes; 95% CI (?59.92, -52.15)]. Similarly, probiotics compared to placebo significantly increased the treatment success of infantile colic with a relative risk (RR) of 0.06; 95% CI (0.01, 0.25) and a number needed to treat of 2. Conclusions Although L. reuteri may be effective as a treatment strategy for crying in exclusively breastfed infants with colic, the evidence supporting probiotic use for the treatment of infant colic or crying in formula-fed infants remains unresolved. Results from larger rigorously designed studies will help draw more definitive conclusions. PMID:24238101

  4. Audiological findings in Infantile Refsum disease.

    PubMed

    Vandana, V P; Bindu, Parayil Sankaran; Nagappa, Madhu; Sinha, Sanjib; Taly, Arun B

    2015-08-01

    Audiological manifestations in a four-year-old child with Infantile Refsum disease are reported. He was born to non-consanguineous parents and had normal birth history and mildly delayed milestones prior to presentation. Clinical features were characterized by neuroregression, retinitis pigmentosa, hearing loss, peripheral neuropathy and white matter signal changes on magnetic resonance imaging. Biochemical evaluation showed elevated serum levels of long chain fatty acid and phytanic acid confirming the diagnosis. The audiological profile was characterized by absent auditory brainstem responses with robust otocoustic emissions, which indicated auditory neuropathy as the possible cause of hearing loss. PMID:26055198

  5. Advances in infantile hypertrophic pyloric stenosis.

    PubMed

    Peters, Babette; Oomen, Mathijs W N; Bakx, Roel; Benninga, Marc A

    2014-07-01

    Infantile hypertrophic pyloric stenosis (IHPS) is a common condition in infancy, characterized by an acquired narrowing of the pylorus, which requires surgery. These infants usually present with projectile, nonbilious vomiting, with a palpable 'olive' in the abdomen and sometimes a 'peristaltic wave' after being fed with formula or breast milk. Although IHPS is a common disorder, its etiology is largely unknown. Surgical intervention is the standard treatment, preoperative preparation, however is essential to optimal outcome. In this review, the latest advances in IHPS regarding epidemiology, etiology, diagnostics and treatment will be discussed. PMID:24716658

  6. Pembrolizumab in Treating Patients With Malignant Mesothelioma

    ClinicalTrials.gov

    2015-04-24

    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

  7. Epigenetics in the hematologic malignancies.

    PubMed

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

    2014-12-01

    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

  8. [Isolated malignant mediastinal lymphadenopathy].

    PubMed

    Riquet, M; Bagan, P; Fabre-Guillevin, E; Scotté, F; Cazes, A; Le Pimpec-Barthes, F

    2010-02-01

    Mediastinal adenopathies without pulmonary disease may be benign, lymphomatous or the metastases from intra- or extrathoracic malignancy or more rarely metastases with unknown primary site. We observed 507 patients with isolated mediastinal adenopathies: benign, lymphomatous and metastatic disease represented 41.4% (210/507), 26.8% (136/507), 31.8% (161/507) of them, respectively. Management of the latter was the most challenging. Surgery was generally diagnostic, restricted to confirming the metastatic process, because of too numerous and disseminated or unresectable lymph nodes in 84% of patients (135/161). However, radical surgery consisting in lymphadenectomy proved effective in case of mediastinal lymph node malignancy without other extra- and intrathoracic disease. We observed long-term good results in such cases, which also was demonstrated by case reports in the literature. We suggest that including surgery in the multimodality treatment of mediastinal metastatic lymph nodes may be advisable in selected patients. PMID:20207295

  9. 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.

  10. Esophageal tuberculosis mimicking malignancy.

    PubMed

    Geusens, E; Verschakelen, J A; Flamaing, J; Bogaert, J; Ponette, E; Decramer, M; Baert, A L

    1996-01-01

    A case of pulmonary and esophageal tuberculosis in an 82-year-old female is presented. Esophageal tuberculosis is very rarely seen in Europe and the United States, but the disease is still endemic in India. The major differential diagnosis is esophageal malignancy. Findings that can suggest the diagnosis are tracheo-esophageal fistula formation, enlarged, centrally necrotizing lymph nodes, and a micronodular lung pattern. PMID:8797957

  11. Stents in Tracheobronchial Malignancy

    Microsoft Academic Search

    H.-J. Wagner

    \\u000a Malignant obstructions of the tracheobronchial system usually derive from cancer of the trachea or bronchus. However, infiltration\\u000a from tumors arising from adjacent organs (e.g., lymph nodes, esophageal cancer) can cause airway stenosis as well. For non-small\\u000a cell lung cancer the only curative approach is resection. However, many bronchial cancers are not resectable at the time of\\u000a diagnosis. Therefore, palliative measures

  12. Malignant spinal cord compression

    Microsoft Academic Search

    Madhuri Yalamanchili; Glenn J. Lesser

    2003-01-01

    Opinion statement  Malignant spinal cord compression is one of the most dreaded complications of cancer. If untreated, it can lead to worsening\\u000a neurologic function culminating in paralysis and sphincter incontinence. The most challenging aspect in the management of\\u000a this complication is early diagnosis because the single most important factor determining outcome is the level of neurologic\\u000a function at initiation of therapy.

  13. 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

  14. 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.

  15. Infantile hemangioma is originated from placental trophoblast, fact or fiction?

    PubMed

    Sun, Zhi-Yong; Yi, Cheng-Gang; Zhao, Huan; Yin, Guo-Qian; Gao, Ming; Liu, Yan-Bin; Qin, Jia-De; Wang, Shou-Feng; Guo, Shu-Zhong

    2008-09-01

    Infantile hemangiomas are common, benign tumors, distinctive for their perinatal presentation, rapid growth and subsequent involution. Hemangiomas can pose serious concerns to the cosmetic and psychosocial development of the afflicted child, but none of the current therapeutic modalities is ideal to date, partly because the origin of the pathogenic ECs in infantile hemangioma is unknown. Many clues and evidences suggest a link between infantile hemangiomas and the maternal placental trophoblasts. Shared expression of distinct endothelial markers in hemangioma and placental tissues raises a possibility that infantile hemangioma is originated from placental trophoblast. Moreover, the findings of a very high similarity between the transcriptomes of placenta and hemangioma provide strong support for this theory. Furthermore, epidemiologic and clinical evidences accumulated in recent years also suggest the placental trophoblast as the cell of origin for infantile hemangioma. These findings imply a unique relationship between hemangioma and the placental trophoblast and suggest a hypothesis that infantile hemangioma is originated from placental trophoblast. The hypothesis could provide new understanding of these vascular tumors of childhood and may become the most promising research fields for the etiology of infantile hemangiomas. Further study of the precise mechanisms for the placental trophoblast originated hemangiomas will produce new preventive strategies and therapeutic avenues, possibly immunologic treatment, to the very difficult problem. PMID:18440158

  16. Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease).

    PubMed

    Hawkins-Salsbury, Jacqueline A; Cooper, Jonathan D; Sands, Mark S

    2013-11-01

    The neuronal ceroid lipofuscinoses (NCL, Batten disease) are a group of inherited neurodegenerative diseases. Infantile neuronal ceroid lipofuscinosis (INCL, infantile Batten disease, or infantile CLN1 disease) is caused by a deficiency in the soluble lysosomal enzyme palmitoyl protein thioesterase-1 (PPT1) and has the earliest onset and fastest progression of all the NCLs. Several therapeutic strategies including enzyme replacement, gene therapy, stem cell-mediated therapy, and small molecule drugs have resulted in minimal to modest improvements in the murine model of PPT1-deficiency. However, more recent studies using various combinations of these approaches have shown more promising results; in some instances more than doubling the lifespan of PPT1-deficient mice. These combination therapies that target different pathogenic mechanisms may offer the hope of treating this profoundly neurodegenerative disorder. Similar approaches may be useful when treating other forms of NCL caused by deficiencies in soluble lysosomal proteins. Different therapeutic targets will need to be identified and novel strategies developed in order to effectively treat forms of NCL caused by deficiencies in integral membrane proteins such as juvenile neuronal ceroid lipofuscinosis. Finally, the challenge with all of the NCLs will lie in early diagnosis, improving the efficacy of the treatments, and effectively translating them into the clinic. This article is part of a Special Issue entitled: The Neuronal Ceroid Lipofuscinoses or Batten Disease. PMID:23747979

  17. Intraoral malignant melanoma.

    PubMed

    Babburi, Suresh; Subramanyam, R V; Aparna, V; Sowjanya, P

    2013-07-01

    Primary oral mucosal melanoma is a rare aggressive neoplasm and accounts for only 0.2-8% of all reported melanomas. It is a malignant neoplasm of melanocytes that may arise from a benign melanocytic lesion or de novo from melanocytes within normal skin or mucosa. It is considered to be the most deadly and biologically unpredictable of all human neoplasms, having the worst prognosis. In this article, we report a case of oral melanoma in a 52-year-old female patient with a chief complaint of black discolouration of the maxillary gingiva and palate. PMID:24249959

  18. Genetics Home Reference: Infantile-onset ascending hereditary spastic paralysis

    MedlinePLUS

    ... management of genetic conditions is available in the Handbook. Read more about genetic testing , particularly the difference ... a genetics professional in my area? in the Handbook. Where can I find additional information about infantile- ...

  19. 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

  20. 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

  1. Vitamin D metabolites in idiopathic infantile hypercalcaemia.

    PubMed

    Martin, N D; Snodgrass, G J; Cohen, R D; Porteous, C E; Coldwell, R D; Trafford, D J; Makin, H L

    1985-12-01

    Metabolites of vitamin D were measured in plasma from 83 patients with idiopathic infantile hypercalcaemia syndrome who were mentally handicapped but had normal calcium values at the time of the study. No significant difference was detected in the mean plasma concentrations of 25-hydroxyvitamin D2, 1,25-dihydroxyvitamin D, 24,25-dihydroxyvitamin D3, or 25,26-dihydroxyvitamin D3 between patients and age matched controls. The mean plasma concentration of 25-hydroxyvitamin D3 was significantly lower in patients than controls but this may be a secondary phenomenon related to less sunlight exposure. In addition, two hypercalcaemic patients with this syndrome were studied during the first year of life, and were found to have normal concentrations of vitamin D metabolites. These findings do not support a role for abnormal vitamin D metabolism in the pathogenesis of this syndrome. PMID:3879160

  2. A pilot study of ST36 acupuncture for infantile colic

    Microsoft Academic Search

    Holgeir Skjeie; Trygve Skonnord; Arne Fetveit; Mette Brekke

    2011-01-01

    ObjectiveTo conduct a pilot study to assess the feasibility of a proposed design of an acupuncture trial to relieve symptoms of infantile colic.MethodAn open randomised single-blinded controlled trial, using standardised bilateral treatment of the acupuncture point ST36. Infants fulfilling Wessel's definition of infantile colic were included.Patients were randomised to active treatment or to no-treatment control. General practitioners (GPs) educated in

  3. Outcomes in Treatment of Infantile Spasms With Pulse Methylprednisolone

    Microsoft Academic Search

    John R. Mytinger; Mark Quigg; William C. Taft; Marcia L. Buck; Robert S. Rust

    2010-01-01

    The authors report their experience with intravenous methylprednisolone for the treatment of infantile spasms. A pulse dose of 20 mg\\/kg intravenous methylprednisolone on each of 3 successive days, followed by a 2-month oral prednisolone taper, led to the rapid remission (range, 2-6 days) of infantile spasms in 5 of 10 (50%) infants. In the subgroup of infants treated within 1

  4. Severe infantile hypothermia: short- and long-term outcome

    Microsoft Academic Search

    S. Sofer; E. Benkovich

    2000-01-01

    Objective: To determine short- and long-term outcomes of infants with severe hypothermia (? 28 ?C) treated in a pediatric intensive\\u000a care unit (PICU).?Design: (1) Retrospective evaluation of medical records of all patients admitted for severe infantile hypothermia from 1984 to 1993.\\u000a (2) Medical and developmental evaluations of survivors of severe infantile hypothermia 3–12 years after hospital discharge.?Setting: Six-bed PICU of

  5. [Malignant keratoma: Harlequin fetus].

    PubMed

    Larguèche, K; Lâarif, Z; Ajroud, C; Oueslati, H

    2009-01-01

    Harlequin fetus, with an incidence of about 1 in 300.000 births, is an extremely severe form of congenital ichtyosis. We report a case of malignant keratoma: a male infant was born at 40 weeks' gestational age. The parents were first cousins. This infant was covered with massive thick, waxy, plate-like scales and deep fissures. There was striking facial distortion including severe eclabium and ectropion. The baby was transferred to the Neonatal Intensive Care Unit but he died at 2 days of age. There is limited information regarding the course and prognosis of neonates affected with Harlequin ichthyosis because most affected patients die within the first days or weeks of life. However, it is now evident that these infants, may have extended survival potential with intensive supportive measures as well as the addition of retinoids. Prenatal diagnosis for malignant keratoma had been performed by fetal skin biopsy and electron microscopic observation at 19-23 weeks estimated gestational age. In 2005, ABCA12 was identified as the causative gene for this disease. It has now become possible to make DNA-based prenatal diagnosis for Harlequin ichthyosis by chorionic villus or amniotic fluid sampling procedures in the earlier stages of pregnancy with a lower risk to fetal health and with a reduced burden on the mothers. PMID:19353943

  6. Tuberose sclerosis with malignant astrocytoma.

    PubMed

    Brown, J M

    1975-06-28

    A case is described of a recurrent malignant gemistocytic astrocytoma in which a diagnosis of tuberose sclerosis was made at post-mortem examination, when "rhabdomyomata" were found in the cardiac muscle and tubers in the cerebral hemispheres. Malignant degeneration of a cerebral lesion has not been described in association with tuberose sclerosis. PMID:1152773

  7. Das maligne Lymphom des Hodens

    Microsoft Academic Search

    M. Raute; K. Wurster

    1974-01-01

    Malignant lymphoma of the testis is rare, accounting for only about 3–8% of all testicular neoplasms. The most common type of these tumors is the reticulum cell sarcoma. Its histopathological features are described. Malignant lymphoma tends to occur after the age of 60, as opposed to germ cell tumors: occurrence in children is rarely reported. The right testicle is more

  8. Neuroleptic Malignant Syndrome

    PubMed Central

    Berman, Brian D.

    2011-01-01

    Neuroleptic malignant syndrome (NMS) is a life-threatening idiosyncratic reaction to antipsychotic drugs characterized by fever, altered mental status, muscle rigidity, and autonomic dysfunction. It has been associated with virtually all neuroleptics, including newer atypical antipsychotics, as well as a variety of other medications that affect central dopaminergic neurotransmission. Although uncommon, NMS remains a critical consideration in the differential diagnosis of patients presenting with fever and mental status changes because it requires prompt recognition to prevent significant morbidity and death. Treatment includes immediately stopping the offending agent and implementing supportive measures, as well as pharmacological interventions in more severe cases. Maintaining vigilant awareness of the clinical features of NMS to diagnose and treat the disorder early, however, remains the most important strategy by which physicians can keep mortality rates low and improve patient outcomes. PMID:23983836

  9. Malignant fibrous histiocytoma

    PubMed Central

    Mohan, Ravi Prakash Sasankoti; Verma, Sankalp; Siddhu, Vivek Kumar; Agarwal, Neha

    2013-01-01

    Malignant fibrous histiocytoma (MFH) is a type of histiocytoma and is the most common soft tissue sarcoma of late adult life. However, it is relatively uncommon in the head and neck area. It usually occurs/develops in the lower extremities and in the retroperitonium. This tumour is difficult to distinguish histologically from other sarcomas and carcinomas. Surgery is the only treatment option. Prognosis is fairly poor; recurrence and local metastasis are common. In comparison with MFH of the extremities and the trunk, the 5-year survival rate for cases of this tumour in the head and neck is low. It is important to consider MFH in differential diagnosis of head and neck tumours because of its poor prognosis. We report a rare case of MFH in an 11-year-old girl. PMID:23729703

  10. [Malignant vasovagal syncope].

    PubMed

    Halmai, László; Avramov, Katalin; Rudas, László

    2003-06-22

    The diagnosis of epilepsy is complicated by various conditions that can mimic an epileptic seizure. Many patients with abnormal seizure activity during loss of consciousness may have cardiovascular syncope with global cerebral hypoxia (convulsive syncope), which may be difficult to differentiate from epilepsy on clinical grounds. The differentiation is, however, important because they need quite different treatment modalities. In addition, long-term anticonvulsant therapy is expensive and can cause serious morbidity. The authors present a case of a patient thought to have treatment-resistant epilepsy for years with recurrent seizure-attacks, who were subsequently found to have a malignant vasovagal reaction of 24s-asystole as a cause for the so called convulsive syncope. A simple, non-invasive evaluation of circulatory responses to acute orthostasis, the head-up tilt table test, can identify cardiovascular reflex abnormalities in patients with recurrent idiopathic seizure-like episodes. The authors could also reproduce the symptoms of the spontaneous attacks in their patient by this way, to confirm an alternative diagnosis of malignant vasovagal reaction and convulsive syncope in this patient with "refractory epilepsy". This rare cardioinhibition can be safely treated by dual-chamber pacemaker implantation, alleviating for the convulsive attacks, this therapeutic option was advised to this patient as well. Orthostatic stress tests should be considered early in the diagnostic workup of patients with convulsive blackouts. Cardiac causes of loss of consciousness should be considered in patients with presumed epilepsy, atypical premonitory symptoms, non-diagnostic electroencephalograms and failure to respond to anticonvulsant therapy. PMID:12901179

  11. Primary intrahepatic malignant epithelioid mesothelioma

    PubMed Central

    Perysinakis, Iraklis; Nixon, Alexander M.; Spyridakis, Ioannis; Kakiopoulos, George; Zorzos, Charalampos; Margaris, Ilias

    2014-01-01

    INTRODUCTION Primary malignant hepatic mesotheliomas are extremely rare. We report the case of a patient with primary intrahepatic malignant mesothelioma who was treated in our department. PRESENTATION OF CASE A 66-year old male patient was admitted to our department for the evaluation of anemia. An abdominal computed tomography scan revealed a large space occupying lesion in the right liver lobe. DISCUSSION The tumor was subsequently resected and a diagnosis of primary intrahepatic malignant mesothelioma was made after pathologic examination. The patient did not receive adjuvant therapy and is currently alive and free of disease, 36 months after the resection. CONCLUSION To our knowledge this is the eighth adult case of primary intrahepatic malignant mesothelioma reported in the literature. These tumors are rarely diagnosed preoperatively. Absence of previous asbestos exposure does not exclude malignant mesothelioma from the differential diagnosis. Proper surgical treatment may offer prolonged survival to the patient, without adjuvant therapy. PMID:25460485

  12. Secretion of a truncated osteopetrosis-associated transmembrane protein 1 (OSTM1) mutant inhibits osteoclastogenesis through down-regulation of the B lymphocyte-induced maturation protein 1 (BLIMP1)-nuclear factor of activated T cells c1 (NFATc1) axis.

    PubMed

    Shin, Bongjin; Yu, Jungeun; Park, Eui-Soon; Choi, Seunga; Yu, Jiyeon; Hwang, Jung Me; Yun, Hyeongseok; Chung, Young-Ho; Hong, Kwan Soo; Choi, Jong-Soon; Takami, Masamichi; Rho, Jaerang

    2014-12-26

    Genetic mutations in osteoclastogenic genes are closely associated with osteopetrotic bone diseases. Genetic defects in OSTM1 (osteopetrosis-associated transmembrane protein 1) cause autosomal recessive osteopetrosis in humans. In particular, OSTM1 mutations that exclude the transmembrane domain might lead to the production of a secreted form of truncated OSTM1. However, the precise role of the secreted form of truncated OSTM1 remains unknown. In this study, we analyzed the functional role of truncated OSTM1 in osteoclastogenesis. Here, we showed that a secreted form of truncated OSTM1 binds to the cell surface of osteoclast (OC) precursors and inhibits the formation of multinucleated OCs through the reduction of cell fusion and survival. Truncated OSTM1 significantly inhibited the expression of OC marker genes through the down-regulation of the BLIMP1 (B lymphocyte-induced maturation protein 1)-NFATc1 (nuclear factor of activated T cells c1) axis. Finally, we demonstrated that truncated OSTM1 reduces lipopolysaccharide-induced bone destruction in vivo. Thus, these findings suggest that autosomal recessive osteopetrosis patients with an OSTM1 gene mutation lacking the transmembrane domain produce a secreted form of truncated OSTM1 that inhibits osteoclastogenesis. PMID:25359771

  13. Occupational exposure and malignant lymphoma.

    PubMed

    Persson, B

    1996-01-01

    The incidence of malignant lymphoma, especially non-Hodgkin's lymphoma has increased over the last few decades. This statement is true despite the fact that methods for diagnosing malignant lymphoma have changed and misclassification has become a problem. The present review is mainly concerned with occupational aspects of malignant lymphoma. Several subsequent studies have dealt with malignant lymphoma among woodworkers and pulp and paper mill workers pointing to increased risks. Exposure to phenoxy herbicides have provided reasonable evidence to be connected with an increased risk of non-Hodgkin's lymphoma, whereas there is limited information regarding Hodgkin's disease. The relationship between solvent exposure and malignant lymphoma has been observed in a great number of studies. It is, however, still hard to identify specific solvent compounds responsible for the increased risk. Other occupational exposures i.e. wood preservatives, welding, asbestos, hair dyes and exposure to animal viruses among meatworkers and veterinarians have also been studied in relation to malignant lymphoma. This review shows that occupational factors, especially exposure to solvents and phenoxy herbicides and also to wood, play a role in the epidemiology of malignant lymphoma. PMID:9117190

  14. Malignancy and chronic renal failure.

    PubMed

    Peces, Ramon

    2003-01-01

    Increased incidence of cancer at various sites is observed in patients with end-stage renal disease (ESRD). Certain malignant diseases, such as lymphomas and carcinomas of the kidney, prostate, liver and uterus, show an enhanced prevalence compared with the general population. In particular, renal cell carcinoma (RCC) shows an excess incidence in ESRD patients. A multitude of factors, directly or indirectly associated with the renal disease and the treatment regimens, may contribute to the increased tumor formation in these patients. Patients undergoing renal replacement therapy (RRT) are prone to develop acquired cystic kidney disease (ACKD), which may subsequently lead to the development of RCC. In pre-dialysis patients with coexistent renal disease, as in dialysis and transplant patients, the presence of ACKD may predispose to RCC. Previous use of cytotoxic drugs (eg, cyclophosphamide) or a history of analgesic abuse, are additional risk factors for malignancy. Malignancy following renal transplantation is an important medical problem during the follow-up. The most common malignancies are lymphoproliferative disorders (early after transplantation) and skin carcinomas (late after transplantation). Another important confounder for risk of malignancy after renal transplantation is the type of immunosuppression. The type of malignancy is different in various countries and dependent on genetic and environmental factors. Finally, previous cancer treatment in a uremic patient on the transplant waiting list is of great importance in relation to waiting time and post-malignancy screening. PMID:17657083

  15. Osteopetrosis cured by temporary parabiosis.

    PubMed

    Walker, D G

    1973-05-25

    The excessive accumulations of spongiosa in the long bones of congenitally osteopetrotic mice permanently disappeared after a brief parabiotic union to normal littermates. Most of the bone removal was accomplished long after interruption of parabiosis. It is proposed that, during parabiosis, progenitors of competent osteolytic cells were recruited from the blood of the normal mouse. PMID:4706681

  16. Incidence and Clinical Characteristics of Periocular Infantile Hemangiomas

    PubMed Central

    Alniemi, Saba T.; Griepentrog, Gregory J.; Diehl, Nancy; Mohney, Brian G.

    2013-01-01

    Objective To report the incidence, demographics, and clinical findings among a population-based cohort of children with periocular infantile hemangiomas. Design Retrospective population-based cohort. Participants All patients (< 19 years of age) diagnosed with periocular infantile hemangiomas while residing in Olmsted County, Minnesota, from January 1, 1965, through December 31, 2004. Methods The medical records of all potential patients identified by the Rochester Epidemiology Project were reviewed. Main Outcome Measures Incidence, demographics, and clinical findings of periocular infantile hemangiomas. Results A total of 43 children were diagnosed with periocular infantile hemangiomas during the 40-year period, yielding an incidence of 5.4 per 100,000 <19 years (95% CI: 3.8–7.1), or a birth prevalence of 1 in 1586 live births. Thirty (70%) were female (p<0.001). There was a history of maternal infertility in approximately 1 in 5 children and premature birth in 1 in 8 children. Twenty-six (60.5%) had other abnormalities, including secondary hemangiomas in 9 (20.9%). The majority of patients (n = 41, 95%) had unilateral disease and most hemangiomas (n = 37, 86%) were located on the upper eyelid. Conclusions In this population-based study, periocular infantile hemangiomas occurred in 1 in 1586 live births and were most prevalent on the unilateral upper eyelid of Caucasian females. Prevalent associations included maternal infertility and premature birth. Other abnormalities, including secondary hemangiomas in 1 in 5 children, were common in this cohort. PMID:22776927

  17. Has infantile sexuality anything to do with infants?

    PubMed

    Salomonsson, Björn

    2012-06-01

    Classical psychoanalytic theory draws many concepts from mental processes that are assumed to arise in the infant and influence the adult mind. Still, psychoanalytic practice with mothers and infants has been integrated but little within general psychoanalytic theory. One reason is that only few analysts have utilized such practice to further theory. Another reason is that infant therapists tend to abandon classical psychoanalytic concepts in favour of attachment concepts. As a result the concept of infantile sexuality, so central to classical theory, plays an unobtrusive role in clinical discussions on infant therapy. The author argues that infantile sexuality plays an important role in many mother-infant disturbances. To function as a clinical concept, it needs to be delineated from attachment and be understood in the context of mother-infant interaction. Two examples are provided; one where the analyst's infantile sexuality emerged in a comment to the infant. Another is a case of breast-feeding problems with a little boy fretting at the breast. This is interpreted as reflecting the mother's infantile sexual conflicts as well as the boy's emerging internalization of them. Thus, to conceptualize such disorders we need to take into account the infantile sexuality in both mother and baby. PMID:22671253

  18. Evaluation of Infantilizing Intonation and Content of Speech Directed at the Aged.

    ERIC Educational Resources Information Center

    Whitbourne, Susan Krauss; And Others

    1995-01-01

    Infantilization was investigated in a sample of elderly adults, both community residents (n=18) and residents of institutions (n=17). Community residents were more negative in their ratings of infantilizing speech content and intonation, and appeared particularly resentful of infantilizing speech intonation of the dimension of respect. (JPS)

  19. Malignant sigmoidoduodenal fistula

    PubMed Central

    Shapey, I.M.; Mahmood, K.; Solkar, M.H.

    2014-01-01

    INTRODUCTION Duodenocolic fistula is a rare complication of malignant colonic disease especially when involving and originating from the sigmoid colon. We aim to discuss the unusual clinical presentation of this case as well as the investigation and management of duodenocolic fistulas. PRESENTATION OF CASE A 91 year old lady presented as an emergency to a general surgical service at a District General Hospital with diarrhoea, vomiting and weight loss. Computed Tomography (CT) reported a large ovarian cyst elevating the sigmoid colon into immediate proximity of the duodenum. Adenocarcinoma was confirmed on histology obtained by colonoscopy. A classic apple core lesion with fistulating tract from the sigmoid colon to the duodenum was synchronously demonstrated on barium enema. DISCUSSION Sigmoido-duodenal fistulae represent a complex manifestation of gastrointestinal pathologies. CONCLUSION Management options must be considered in the context of patient wishes, their co-morbidities, and predicted post-operative outcome. In most cases this is likely to represent a non-operative approach, however surgical resection may benefit selected cases on occasion. PMID:25460456

  20. 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.

  1. Infantile hemiplegia in pediatric dental set-up

    PubMed Central

    Syed, Ghousia; Benni, Deepa; Naik, Saraswathi V; Surendra, Poornima

    2012-01-01

    Infantile hemiplegia refers to brain injuries that occur before or at birth and lead to hemiplegia/ total paralysis of one side of the body, including the face, arm and leg. The main purpose of this article is to provide valuable information to pediatric dentists about the review and treatment alternatives for patients with infantile hemiplegia. This article reports the case of a 12-year-old girl with a hemiplegia of left side of the body suffering with tooth ache and gum inflammation. The treatment performed was rehabilitation with oral prophylaxis and extractions of root stumps followed by thorough preventive regimen with periodic check-ups. PMID:23559936

  2. Malignant transformation of oral lichen planus

    Microsoft Academic Search

    R. Rajentheran; N. R. McLean; C. G. Kelly; M. F. Reed; A. Nolan

    1999-01-01

    Aims: To investigate the malignant potential of oral lichen planus (OLP), a common mucocutaneous disease of unknown aetiology. The malignant potential of OLP is still controversial, with studies reporting malignant transformation rates of between 0 and 5.6%. We also aimed to identify factors that might be associated with malignant transformation. Methods: We retrospectively reviewed the records of 832 patients with

  3. Basic and clinical aspects of malignant melanoma

    SciTech Connect

    Nathanson, L. (Health Sciences Center, State Univ. of New York at Stony Brook, Stony Brook, NY (US))

    1987-01-01

    This book contains the following 10 chapters: The role of oncogenes in the pathogenesis of malignant melanoma; Laminin and fibronectin modulate the metastatic activity of melanoma cells; Structure, function and biosynthesis of ganglioside antigens associated with human tumors derived from the neuroectoderm; Epidemiology of ocular melanoma; Malignant melanoma: Prognostic factors; Endocrine influences on the natural history of human malignant melanoma; Psychosocial factors associated with prognostic indicators, progression, psychophysiology, and tumor-host response in cutaneous malignant melanoma; Central nervous system metastases in malignant melanoma; Interferon trials in the management of malignant melanoma and other neoplasms: an overview; and The treatment of malignant melanoma by fast neutrons.

  4. Hypercalcemia associated with infantile fibrosarcoma producing parathyroid hormone-related protein.

    PubMed

    Michigami, T; Yamato, H; Mushiake, S; Nakayama, M; Yoneda, A; Satomura, K; Imura, K; Ozono, K

    1996-03-01

    We describe a 7-month-old boy who manifested severe hypercalcemia associated with mesenchymal neoplasm. A huge hypervascular tumor on the neck had been detected in prenatal ultrasonography. Surgical removal of the entire tumor at birth was not indicated, because the tumor was diagnosed as hemangioma. Chemotherapy and radiotherapy were attempted, but there was no effect on tumor growth. When the infant was 6 months old, the serum calcium level increased rapidly, associated with the expansion of the tumor. Hypophosphatemia due to phosphaturia was also observed. Serum PTH was undetectable, whereas the serum concentration of carboxyl-terminal (C-terminal) fragments of PTH-related protein (PTH-rP) was markedly elevated. Northern blot analysis and immunostaining demonstrated the expression of PTH-rP in the tumor. The tumor was transplantable to nude mice and caused elevation of circulating PTH-rP in the animals. Histological examination of the patient's bone revealed an increased number of osteoclasts. These findings were consistent with humoral hypercalcemia of malignancy caused by the excess production of PTH-rP. The tumor was identified histologically as infantile fibrosarcoma, which has not been reported as a cause of humoral hypercalcemia of malignancy to date. The expression of PTH/PTH-rP receptor messenger ribonucleic acid was detected in the tumor by the RT-PCR, suggesting that PTH-rP may have exerted its effect in the tumor in an autocrine/paracrine manner. In addition to the systemic effect of PTH-rP manifested as hypercalcemia, the PTH-rP secreted from the neoplasm could have been a local factor involved in the growth of the tumor. PMID:8772581

  5. Ultrasound compared with clinical examination in infantile hypertrophic pyloric stenosis

    Microsoft Academic Search

    P Godbole; A Sprigg; J A Dickson; P C Lin

    1996-01-01

    OBJECTIVES: To assess the accuracy of clinical examination as compared with ultrasound imaging in the diagnosis of infantile hypertrophic pyloric stenosis. Duration of hospital stay, time between admission and surgery, and financial implications were also considered. DESIGN: A prospective study of patients referred to the surgical team with a possible diagnosis of pyloric stenosis from May 1993 to January 1995.

  6. Myenteric plexus neuropathy in infantile hypertrophic pyloric stenosis

    Microsoft Academic Search

    R. Dieler; J. M. Schröder

    1989-01-01

    The myenteric plexus and intramuscular nerve bundles in the circular muscle layer of the pylorus from 37 children with infantile hypertrophic pyloric stenosis (IHPS) obtained at pyloromyotomy were studied by light and electron microscopy and compared to six control cases without clinical evidence of IHPS. In certain IHPS cases degenerative alterations of the axons predominated. The axonal changes consisted of

  7. Recent results of treatment of infantile hypertrophic pyloric stenosis

    Microsoft Academic Search

    B Zeidan; J Wyatt; A Mackersie; R J Brereton

    1988-01-01

    During the five year period December 1980 to November 1985, 106 infants with hypertrophic pyloric stenosis were treated. There were no operative deaths, but two late deaths occurred from associated abnormalities. The combination of preoperative rehydration, skilled anaesthesia, and the use of the Fredet-Ramstedt operation (pyloromyotomy) have virtually eliminated mortality from uncomplicated infantile hypertrophic pyloric stenosis. The most common complications

  8. The pathology of infantile hypertrophic pyloric stenosis after healing

    Microsoft Academic Search

    Jean-Marie Vanderwinden; Hao Liu; Roberte Menu; Jean-Louis Conreur; Marc-Henri De Laet; Jean-Jacques Vanderhaeghen

    1996-01-01

    Introduction: Infantile hypertrophic pyloric stenosis (IHPS) is a common surgical affection of unknown etiology. The muscular hypertrophy is known to resolve within a few months after pyloromyotomy (PM). The pathology of IHPS has been studied extensively at the time of PM, but the fate of the pylorus after healing remains unknown. Materials and Methods: We had the rare opportunity to

  9. Infantile hypertrophic pyloric stenosis in Belfast, 1957-1969

    Microsoft Academic Search

    J A Dodge

    1975-01-01

    Infants with hypertrophic pyloric stenosis born in Belfast during the 13 years 1957-1969 have been reviewed. Their distribution shows a bias towards higher social classes, breast feeding, and primogeniture. Obstetric factors and parental ages seem to be of no importance. More affected infants were born during winter months than would be expected. The overall incidence of infantile pyloric stenosis in

  10. Pyloromyotomy versus atropine sulfate for infantile hypertrophic pyloric stenosis

    Microsoft Academic Search

    Atsuyuki Yamataka; Kazuko Tsukada; Yuko Yokoyama-Laws; Mitsunori Murata; Makiko Osawa; Takao Fujimoto; Takeshi Miyano

    2000-01-01

    Purpose: Atropine sulfate (atropine) and pyloromyotomy were compared for managing infantile hypertrophic pyloric stenosis (IHPS).Methods: From 1996 to 1998, cases of IHPS treated surgically (pyloromyotomy; n = 20) or medically (atropine; n = 14) at separate institutions were compared retrospectively with regard to status on presentation, physical symptoms and signs, progress, and costs. Atropine was given orally, then intravenously if

  11. A Review of Infantile and PediatricAcne

    Microsoft Academic Search

    Anne W. Lucky

    1998-01-01

    Acne occurs primarily in the first year of life and at puberty. Neonatal and infantile acne may reflect the relatively high androgens from the adrenal in girls and the adrenal and testes in boys characteristic of this age. Early in puberty, acne in boys and girls is primarily comedonal and midfacial. The best predictors of severe acne are early onset

  12. 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…

  13. Infantile multicystic encephalomalacia after maternal bee sting anaphylaxis during pregnancy

    PubMed Central

    Erasmus, C; Blackwood, W; Wilson, J

    1982-01-01

    We report a case of infantile multicystic encephalomalacia after maternal bee sting anaphylaxis in the 30th week of pregnancy. The clinical features and findings at necropsy are described, and it is suggested that these are the result of severe fetal hypoxia secondary to maternal hypotension. ImagesFig. 2 PMID:7138068

  14. 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.…

  15. Polygraphic Study during Whole Night Sleep in Infantile Spasms

    Microsoft Academic Search

    Yukio Fukuyama; Atsuko Shionaga; Yoko Iida

    1979-01-01

    The whole night EEG were polygraphically recorded and analyzed in 9 patients with infantile spasms prior to ACTH therapy. The subjects were divided into two groups, favorable and unfavorable, depending upon the response to the ACTH therapy. (1) Among the unfavorable group, the deep sleep stage was not observed; while the light sleep stage tended to dominate. (2) REM sleep

  16. Skin and conjunctival biopsies in infantile neuroaxonal dystrophy

    Microsoft Academic Search

    J. J. Martin; J. G. Leroy; J. Libert; M. van Eygen; N. Logghe

    1979-01-01

    The diagnosis of infantile neuro-axonal dystrophy (INAD) in a 5-year-old patient was confirmed by the ultrastructural study of neuromuscular, skin and conjunctival biopsy specimens. Abnormal networks of smooth membranous, lamellar and tubular profiles were found in presynaptic terminals and in conjunctival and dermal axons.

  17. ADVERGAMING APLICADO A LAS ESTRATEGIAS COMUNICATIVAS DIRIGIDAS AL TARGET INFANTIL

    Microsoft Academic Search

    Cristina González Díaz; Teresa Francés Barceló

    1. INTRODUCCIÓN. 1.1. Los nuevos invasores del espacio lúdico infantil: los videojuegos. Los videojuegos, ya sea a través de consolas, ordenador o teléfono móvil, se han consolidado como una de las actividades lúdicas preferidas por los niños que, sin duda, se sienten atraídos por las continúas innovaciones tecnológicas que este tipo de entretenimiento trae consigo. De hecho, según un estudio

  18. [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

  19. Febrile neutropenia in hematologic malignancies.

    PubMed

    Keng, Michael K; Sekeres, Mikkael A

    2013-12-01

    Febrile neutropenia (FN) can occur at any time during the course of a malignancy, especially hematologic malignancies, from diagnosis to end-stage disease. The majority of FN episodes are typically confined to the period of initial diagnosis and active treatment. Because of suppressed inflammatory responses, fever is often the sole sign of infection. As FN is a true medical emergency, prompt identification of and intervention in FN can prolong survival and improve quality of life. This article reviews FN in the setting of hematologic malignancies, specifically myelodysplastic syndromes and acute leukemias, providing an overview of the definition of fever and neutropenia, diagnostic approach, categories of risk/risk assessment, management in patients at low and high risk, and prophylaxis of infections. PMID:23990311

  20. Rare variants of malignant melanoma

    Microsoft Academic Search

    G. W. Milton; H. M. Shaw

    1992-01-01

    The personal experience with 5 rare types of malignant melanoma is reviewed to point out some of the practical problems in the diagnosis and management of these tumors. The rare forms discussed are conjunctival, nasal, oral, vulvar, and penile melanomas. All pigmented lesions in the oral cavity, but not the penis or vulva, should be prophylactically excised as lesions in

  1. Malignant mesothelioma of the pleura

    Microsoft Academic Search

    A. Calavrezos; G. Koschel; H. Hfisselmann; A. Taylessani; H.-P. Heilmann; H. Fabel; H.-J. Schmoll; H. Dietrich; E. Hain

    1988-01-01

    Summary Between March 1981 and February 1985, 93 out of 132 patients with a histologically confirmed diagnosis of malignant pleural mesothelioma were eligible for therapy and were prospectively assigned to receive either combined therapy or best supportive care, according to their personal preferences. Fifty-seven patients underwent multimodal therapy including surgical resection where possible, polychemotherapy, and radiation therapy in case of

  2. Management of paranasal sinus malignancy.

    PubMed

    Day, Terry A; Beas, Ricardo A; Schlosser, Rodney J; Woodworth, Bradford A; Barredo, Julio; Sharma, Anand K; Gillespie, M Boyd

    2005-01-01

    Malignancies of the nasal cavity and paranasal sinuses represent a wide spectrum of histologies, tissues of origin, and anatomic primary sites. The inherent difficulty in generalizing treatment approaches is obvious, given the numerous variables associated with the broadly-based term, paranasal sinus malignancy (PNSCa). Nevertheless, the majority of epithelial and salivary malignancies of this region (ie, squamous cell carcinoma, adenocarcinoma, adenoid cystic carcinoma, sinonasal undifferentiated carcinoma, and esthesioneuroblastoma) require surgical intervention as part of any treatment regimen. Recent trends have broadened the indications for chemotherapeutic and radiotherapeutic options in the management of advanced PNSCa. Nonepithelial malignancies, including the wide variety of sarcomas arising in this region, most commonly require multimodality treatment including chemotherapy, radiation, and/or surgery for definitive treatment. Moreover, the proximity of the nasal cavity and paranasal sinuses to structures including the orbit, dura, brain, cranial nerves, and carotid arteries mandates careful radiologic and neurologic evaluations throughout the course of the disease. Surgical advances now permit complex tumor removal and reconstruction surrounding these structures resulting in functional and cosmetic improvements when compared to earlier techniques. However, additional clinical trials are necessary to systematically evaluate the locoregional control, organ-preservation strategies, and survival related to the variety of treatments currently available. PMID:15610711

  3. Skin Manifestations of Internal Malignancy

    PubMed Central

    Donsky, Howard J.

    1978-01-01

    Although some of the skin manifestations of internal malignancy are relatively rare, their identification may often be made at a crucial time, when intervention may save a life. This article classifies such signs and describes those which may be seen in family practice. ImagesFig. 1Fig. 2Fig. 3Fig. 4Fig. 5Fig. 6Fig. 7Fig. 8 PMID:21301498

  4. Animal models of malignant mesothelioma.

    PubMed

    Kane, Agnes B

    2006-11-01

    Animal models of diffuse malignant mesothelioma have historically been used to assess carcinogenicity of various fiber types and to study the pathogenesis of this unusual neoplasm. Pleural and peritoneal mesotheliomas have been induced in rodents following exposure to erionite or asbestos fibers, radionuclides, particulate nickel compounds, and chemicals such as 3-methylcholanthrene. The role of SV40 virus as a cofactor with asbestos fibers in the development of diffuse malignant mesotheliomas in humans has been explored in animal models. SV40 virus alone induces mesotheliomas in hamsters. Generation of new transgenic mouse strains with targeted expression of SV40 large T and small t antigens in the mesothelium would be very useful for mechanistic studies. Human malignant mesotheliomas frequently show hypermethylation or deletions at the Cdkn2a/Arf and Cdkn2b gene loci and deletions or mutations at the NF2 gene locus. Heterozygous Nf2 (+/-) mice exposed to crocidolite asbestos fibers exhibited accelerated development of malignant mesotheliomas compared to wild-type littermates. Loss of the wild-type Nf2 allele, leading to biallelic inactivation, was observed in nine mesothelioma cell lines derived from Nf2 (+/-) mice. Similar to human malignant mesotheliomas, tumors from Nf2 (+/-) mice showed frequent homozygous deletions of the Cdkn2a/Arf locus and adjacent Cdkn2b tumor suppressor gene. As in the human disease, murine mesotheliomas also showed constitutive activation of Akt. This murine model of asbestos carcinogenesis recapitulates the molecular and histopathological features of the human disease and has significant implications for preclinical testing of novel preventive or therapeutic modalities. PMID:16920675

  5. Interleukin 1 Receptor Antagonist Deficiency Presenting as Infantile Pustulosis Mimicking Infantile Pustular Psoriasis

    PubMed Central

    Minkis, Kira; Aksentijevich, Ivona; Goldbach-Mansky, Raphaela; Magro, Cynthia; Scott, Rachelle; Davis, Jessica G.; Sardana, Niti; Herzog, Ronit

    2012-01-01

    Background Deficiency of interleukin 1 receptor antagonist (DIRA) is a recently described autoinflammatory syndrome of skin and bone caused by recessive mutations in the gene encoding the interleukin 1 receptor antagonist. Few studies have been published about this debilitating condition. Early identification is critical for targeted lifesaving intervention. Observations A male infant, born to nonconsanguineous Puerto Rican parents, was referred for management of a pustular eruption diagnosed as pustular psoriasis. At 2 months of age, the infant developed a pustular eruption. After extensive evaluation, he was confirmed to be homozygous for a 175-kb genomic deletion on chromosome 2 that includes the IL1RN gene, commonly found in Puerto Ricans. Therapy with anakinra was initiated, with rapid clearance of skin lesions and resolution of systemic inflammation. Conclusions Recent identification of DIRA as a disease entity, compounded by the limited number of reported cases, makes early identification difficult. It is critical to consider this entity in the differential diagnosis of infantile pustulosis. Targeted therapy with the recombinant human interleukin 1 receptor antagonist anakinra can be lifesaving if initiated early. A high carrier frequency of the 175-kb DIRA-associated genomic deletion in the Puerto Rican population strongly supports testing infants presenting with unexplained pustulosis in patients from this geographic region. PMID:22431714

  6. The Malignant Cell and Its Membranes

    PubMed Central

    Warren, Leonard

    1974-01-01

    In this brief review the hypothesis that altered membrane proteins and glycoproteins may be critical mediators of malignant expression is discussed. Examples of alterations of membrane proteins in malignancy are presented. Data is summarized showing changes in the carbohydrate components of glycoproteins of surface and internal membranes of malignant cells in culture as compared to their normal counterparts. PMID:4374888

  7. Renal cell carcinoma presenting with malignant ascites

    PubMed Central

    Wathuge, Gayathri W; Gorard, David A

    2015-01-01

    Lesson It is rare for renal cell carcinoma to involve the peritoneum and cause malignant ascites. Furthermore, it is uncommon for malignant ascites to be a presenting feature of this cancer. An unusual case of renal cell carcinoma presenting with malignant ascites is reported, and its response to sunitinib described. PMID:25973217

  8. Congenital malignant rhabdoid tumor of the orbit

    Microsoft Academic Search

    D. Brian Stidham; Richard A. Burgett; Mary M. Davis; David A. Plager

    1999-01-01

    Malignant rhabdoid tumor is a rare and highly malignant renal tumor of infancy. Extrarenal tumors involving the orbit have been reported, but never at birth.1-5 The authors describe a primary malignant rhabdoid tumor of the orbit in a neonate who had massive unilateral proptosis at birth. Clinical, radiographic, and histologic features of the tumor are discussed.

  9. Infantile hydrocephalus epidemiology: an indicator of enhanced survival.

    PubMed Central

    Fernell, E; Hagberg, G; Hagberg, B

    1994-01-01

    The epidemiology of infantile hydrocephalus in the birth years 1973-90 was investigated in west Sweden. The study revealed a significant increase in prevalence from 1973-8 and 1979-82 considered due to the enhanced survival of very and extremely preterm infants. The increase did not continue from 1983-90. This could indicate an improved outcome in preterm survivors as the neonatal survival rate continued to increase. The striking predominance of a perinatal/neonatal aetiology in very preterm hydrocephalic infants could be confirmed: 89% born from 1983-90 had suffered a confirmed postpartum intraventricular haemorrhage. In infants born at term, prenatal origins, mainly maldevelopments, dominated. The outcome in very preterm surviving infants with infantile hydrocephalus was poor: 73% had cerebral palsy, 52% epilepsy, 22% severe visual disability, and 55% were mentally retarded. Despite the increased survival resulting in a majority of healthy infants, there is an accumulating cohort of hydrocephalic children. PMID:8154905

  10. Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.

    PubMed

    Kenny, Joanna; Lees, Melissa M; Drury, Susan; Barnicoat, Angela; Van't Hoff, William; Palmer, Rodger; Morrogh, Deborah; Waters, Jonathan J; Lench, Nicholas J; Bockenhauer, Detlef

    2011-08-01

    Sotos syndrome is characterized by overgrowth, a typical facial appearance, and learning difficulties. It is caused by heterozygous mutations, including deletions, of NSD1 located at chromosome 5q35. Here we report two unrelated cases of Sotos syndrome associated with nephrocalcinosis. One patient also had idiopathic infantile hypercalcemia. Genetic investigations revealed heterozygous deletions at 5q35 in both patients, encompassing NSD1 and SLC34A1 (NaPi2a). Mutations in SLC34A1 have previously been associated with hypercalciuria/nephrolithiasis. Our cases suggest a contiguous gene deletion syndrome including NSD1 and SLC34A1 and provide a potential genetic basis for idiopathic infantile hypercalcemia. PMID:21597970

  11. 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

  12. Ten-year prognosis for generalized infantile eczema.

    PubMed

    Linna, O; Kokkonen, J; Lahtela, P; Tammela, O

    1992-12-01

    Forty children treated in our hospital for generalized infantile eczema were re-examined at 11-13 years of age. In 7 (18%) children the eczema had disappeared and in 26 (65%) it had become less severe. Unrelated to dermatological status or gender, allergic rhinitis was diagnosed in 31 (78%) and asthma in 21 (53%) children. Only 8 children continued without either of these two conditions. All 32 children with allergic rhinitis and/or asthma showed at least one positive skin test reaction in a test panel of 11 common inhalant and food allergens compared with only 4 of 8 children without either allergic rhinitis or asthma (p < 0.001). Our results showed an improvement of dermatological status in most children with generalized infantile eczema but there was a high risk of a concomitant respiratory allergy and development of allergic rhinitis or asthma. PMID:1290844

  13. Pathogenesis of infantile hypertrophic pyloric stenosis: recent progress

    Microsoft Academic Search

    K. Ohshiro; P. Puri

    1998-01-01

    Although infantile hypertrophic pyloric stenosis (IHPS) is the most common condition requiring surgery in the first few months\\u000a of life, its pathogenesis is not fully understood. Reviews of the recent progress in the pathogenesis of IHPS show: (1) there\\u000a is increasing evidence to suggest that smooth-muscle cells in IHPS are not properly innervated; (2) because non-adrenergic,\\u000a non-cholinergic nerves are mediators

  14. Early experience with laparoscopic pyloromyotomy for infantile hypertrophic pyloric stenosis

    Microsoft Academic Search

    A Najmaldin; H. L Tan

    1995-01-01

    The authors report on 37 infants with infantile hypertrophic pyloric stenosis who underwent successful laparoscopic pyloromyotomy. The average age was 6 weeks and average weight was 4.5 kg. Three 4-mm ports were used in each procedure. The average operating time was 29 minutes (range, 7 to 60 minutes). Feeding was begun an average of 5.2 hours (range, 3 to 12

  15. 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

  16. 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

  17. Alveolar rhabdomyosarcoma in infantile spinal muscular atrophy: coincidence or predisposition?

    Microsoft Academic Search

    Sabine Rudnik-Schöneborn; Dirk Anhuf; Ewa Koscielniak; Klaus Zerres

    2005-01-01

    We report two unrelated patients with infantile spinal muscular atrophy (SMA) types II and IIIa who developed alveolar rhabdomyosarcoma (ARMS) at 15 and 19 years, respectively. The tumours were located in the forearm, within severely atrophic flexor muscles. They displayed a similar histology and shared the most common translocation, t(2;13)(q35;14) in ARMS. Since cell proliferation is increased in de- and

  18. Chemotherapy for Generalized Infantile Myofibromatosis With Visceral Involvement.

    PubMed

    Wu, Susan Y; McCavit, Timothy L; Cederberg, Kevin; Galindo, Rene L; Leavey, Patrick J

    2015-07-01

    Infantile myofibromatosis (IM) is most commonly limited to cutaneous lesions that resolve spontaneously. However, generalized IM with visceral involvement, which has a reported mortality rate as high as 73%, has been successfully treated with a combination of methotrexate and vinblastine. Here we report the further efficacy of low-dose methotrexate and vinblastine in 2 pediatric patients with IM and visceral involvement and review the literature describing chemotherapy for these patients. PMID:24608078

  19. Infantile myofibromatosis: a most unusual cause of gastric outlet obstruction.

    PubMed

    Rohrer, Kellie; Murphy, Robyn; Thresher, Caroline; Jacir, Nabil; Bergman, Kerry

    2005-08-01

    Non-bilious vomiting in the newborn is common. Etiologies include both surgical and medical conditions. Gastroesophageal reflux, soy or milk protein allergy, and prostaglandin-induced foveolar hyperplasia are among the medical causes. Surgical entities include gastric antral webs, pre-ampullary duodenal and pyloric atresia, and hypertrophic pyloric stenosis. We report the unique case of an 8-day-old girl who presented with gastric outlet obstruction secondary to infantile myofibromatosis. PMID:15841368

  20. 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.

  1. 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

  2. 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

  3. Effects of macrophage colony-stimulating factor on macrophages and their related cell populations in the osteopetrosis mouse defective in production of functional macrophage colony-stimulating factor protein.

    PubMed Central

    Umeda, S.; Takahashi, K.; Shultz, L. D.; Naito, M.; Takagi, K.

    1996-01-01

    The development of macrophage populations in osteopetrosis (op) mutant mice defective in production of functional macrophage colony-stimulating factor (M-CSF) and the response of these cell populations to exogenous M-CSF were used to classify macrophages into four groups: 1) monocytes, monocyte-derived macrophages, and osteoclasts, 2) MOMA-1-positive macrophages, 3) ER-TR9-positive macrophages, and 4) immature tissue macrophages. Monocytes, monocyte-derived macrophages, osteoclasts in bone, microglia in brain, synovial A cells, and MOMA-1- or ER-TR9-positive macrophages were deficient in op/op mice. The former three populations expanded to normal levels in op/op mice after daily M-CSF administration, indicating that they are developed and differentiated due to the effect of M-CSF supplied humorally. In contrast, the other cells did not respond or very slightly responded to M-CSF, and their development seems due to either M-CSF produced in situ or expression of receptor for M-CSF. Macrophages present in tissues of the mutant mice were immature and appear to be regulated by either granulocyte/macrophage colony-stimulating factor and/or interleukin-3 produced in situ or receptor expression. Northern blot analysis revealed different expressions of GM-CSF and IL-3 mRNA in various tissues of the op/op mice. However, granulocyte/macrophage colony-stimulating factor and interleukin-3 in serum were not detected by enzyme-linked immunosorbent assay. The immature macrophages differentiated and matured into resident macrophages after M-CSF administration, and some of these cells proliferated in response to M-CSF. Images Figure 4 Figure 6 Figure 8 Figure 10 Figure 11 PMID:8701995

  4. Unusual variants of malignant melanoma

    Microsoft Academic Search

    Cynthia M Magro; A Neil Crowson; Martin C Mihm

    2006-01-01

    A potential diagnostic pitfall in the histologic assessment of melanoma is the inability to recognize unusual melanoma variants. Of these, the more treacherous examples include the desmoplastic melanoma, the nevoid melanoma, the so-called ‘minimal-deviation melanoma,’ melanoma with prominent pigment synthesis or ‘animal-type melanoma,’ and the malignant blue nevus. Also problematic are the unusual phenotypic profiles seen in vertical growth phase

  5. Gene therapy for hematological malignancies

    Microsoft Academic Search

    G. D. Schmidt-Wolf; I. G. H. Schmidt-Wolf

    2003-01-01

    .   Since cancer is the result of genetic mutations, it should be well suited for correction through gene therapy. Hematological\\u000a malignancies in which human gene transfer has been performed are leukemias, lymphomas, graft-versushost disease after allogeneic\\u000a bone marrow transplantation in leukemia, and multiple myeloma. Gene therapy may be used to induce or enhance an antitumor\\u000a immunological reaction, to correct a

  6. Comparative effectiveness in hepatic malignancies.

    PubMed

    Page, Andrew J; Cosgrove, David; Pawlik, Timothy M

    2015-01-01

    The benefits of applying comparative effectiveness research (CER) strategies to the management of cancer are important. As the incidence of cancer increases both in the United States and worldwide, accurate analysis of which tests and treatments should be applied in which situations is critical, both in terms of measurable and meaningful clinical outcomes and health care costs. In the last 20 years alone, multiple controversies have arisen in the diagnosis and treatment of primary and metastatic tumors of the liver, making the management of liver malignancies a prime example of CER. Contributing factors to the development of these controversies include improvements in molecular characterization of these diseases and technological advances in surgery and radiology. The relative speed of these advances has outpaced data from clinical trials, in turn making robust data to inform clinical practice lacking. Indeed, many of the current treatment recommendations for the management of liver malignancies are based primarily on retrospective data. We herein review select CER issues concerning select decision-making topics in the management of liver malignancies. PMID:25677025

  7. Immunotherapy of malignant brain tumors

    PubMed Central

    Mitchell, Duane A.; Fecci, Peter E.; Sampson, John H.

    2012-01-01

    Summary Despite aggressive multi-modality therapy including surgery, radiation, and chemotherapy, the prognosis for patients with malignant primary brain tumors remains very poor. Moreover, the non-specific nature of conventional therapy for brain tumors often results in incapacitating damage to surrounding normal brain and systemic tissues. Thus, there is an urgent need for the development of therapeutic strategies that precisely target tumor cells while minimizing collateral damage to neighboring eloquent cerebral cortex. The rationale for using the immune system to target brain tumors is based on the premise that the inherent specificity of immunologic reactivity could meet the clear need for more specific and precise therapy. The success of this modality is dependent on our ability to understand the mechanisms of immune regulation within the central nervous system (CNS), as well as counter the broad defects in host cell-mediated immunity that malignant gliomas are known to elicit. Recent advances in our understanding of tumor-induced and host-mediated immunosuppressive mechanisms, the development of effective strategies to combat these suppressive effects, and a better understanding of how to deliver immunologic effector molecules more efficiently to CNS tumors have all facilitated significant progress toward the realization of true clinical benefit from immunotherapeutic treatment of malignant gliomas. PMID:18363995

  8. 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

  9. Etiology of convulsions in neonatal and infantile period.

    PubMed

    Kurokawa, T; Yokata, K; Takashima, S; Nambu, Y; Hanai, T

    1976-01-01

    1) Etiology of convulsions starting prior to two years of age was discussed in 418 cases. Neonatal seizures before 30 days old appeared in 86 cases (53 boys and 33 girls). Three hundred and thirty-two patients (172 boys and 160 girls) had convulsions in infancy. Twelve patients (9 boys and 3 girls) suffered from convulsions both in neonatal and infantile period. 2)Etiology of convulsions was prenatal in 67 cases (16%), natal in 49 cases (12%), postnatal in 158 cases (38%) and unknown in 144 cases (34%). Prenatal factors consisted of cerebral malformation (23 cases, 6%), associated physical minor anomaly such as cataracta or finger abomaly (11 cases, 3%), abnormal pernatal history (8 cases, 2%), congenital heart disease 3) cases, 1%), tuberose scleorsis (7 cases, 2%) and positive family history (13 cases, 3%). Postnatal causes included hypocalcemia or hypoglycemia (7 cases, 2%), brain tumors (3 cases, 1%), breath-holding spells (21 cases, 5%), febrile convulsion (44 cases, 11%), bathing (3 cases, 1%), afebrile colds (3 cases, 1%), purulent meningitis (17 cases, 4%), DPT immunization (10 cases 2%), vaccination (7 cases, 2%) and acute hemiplegia (10 cases, 2%). The group of unknown etiology were as fns (38 cases, 9%), epilepsy associated with interictal signs (23 cases, 6%), benign infantile convulsions (57 cases, 14%), neonatal convulsion of unknown etiology (12 cases, 3%) and miscellaneous categories (4%). 3) Pregnancy was abnormal in 53% of cases with cerebral malformation. Asphyxia at birth was noted in 43% of patients with tuberose sclerosis and in 35% of congenital cerebral abomaly. 4) Pneumoencephalographic examinations revealed midline anomaly in 50% of cerebral malformation. It was abnormal in all cases with tuberose sclerosis, head injury and epilepsy with interseizure neurological signs. 5) There were no correlations between the seizure pattern and the etiology in neonatal convulsion. In infancy, focal-unilateral convulsions and infantile spasms were frequently associated with organic damages. Generalized seizures were seen in organic lesions as well as functional ones although approximately half of the cases were febrile convulsion, benign infantile convulsion or breath-holding spell. 6) EEG features of cerebral malformation were asymmetrical or multifocal dischages in neonatal period and hypsarhythmia or focal-unilateral spike discharges in infancy. Tuberose sclerosis showed hypsarhythmia in infancy. In birth injury or cerebral anoxia, EEG mostly revealed focal-unilateral abnormality or suppression-burst activity in newborns and hypsarhythmia or focal features in infants. 7) The occurrence rate of neonatal seizures in autopsy cases with intracranial pathology was demonstrated. EEG with intravenous diazepam was useful to know pathophysiology of infantile spasms. PMID:992519

  10. Infantile Hepatic Hemangioendothelioma in Comparison with Hepatoblastoma in Children: Clinical and Ultrasound Features

    PubMed Central

    Pan, Fu-shun; Xu, Ming; Wang, Wei; Zhou, Lu-yao; Xie, Xiao-yan

    2013-01-01

    Background Infantile hepatic hemangioendothelioma (IHH) and hepatoblastoma (HBL) are respectively the most common benign and malignant liver tumors in children. Objectives To study the clinical manifestations and the ultrasound features of the pediatric patients for distinguishing IHH from HBL. Patients and Methods Between 2002 and 2012, thirteen children with IHH and 38 children with HBL under the age of 10 years were included. We retrospectively reviewed the clinical and the ultrasound features of the two groups, especially including parameters as follows: age at diagnosis, gender, alpha-fetoprotein (AFP) elevation, venous involvement and Doppler ultrasound. Results Compared with HBL group, the age of IHH group was much younger (5.8 months vs. 35.1 months, P = 0.000), the AFP elevation was less likely to be detected in IHH group (23.1% vs. 89.5%, P = 0.000). Although the color flow were the same commonly observed (61.5% vs. 52.6%, P > 0.05), the spectral Doppler showed IHH was less likely to appear as arterial flow with resistance index (RI) > 0.7(12.5% vs. 75.0%, P < 0.05), characterized by arterial flow with RI < 0.7 and/or venous flow. Combined the clinical features including age (< 6 months) and normal AFP level yielded high capability in differential diagnosis, with sensitivity, specificity and Youden index of 77% (10/13), 95% (36/38), and 0.72, respectively. When combined clinical features (age and AFP) and spectral Doppler as the diagnostic criterion for distinguishing these cases with positive color flow signals, the sensitivity, specificity, accuracy and Youden Index were 88%, 95%, 89% and 0.83, respectively. Conclusions The clinical features are effective indicators for distinguishing IHH from HBL, and the spectral Doppler may be a useful adjunct parameter for differential diagnosis. PMID:24171008

  11. Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome

    Microsoft Academic Search

    Z Borochowitz; B Glick; S Blazer

    1991-01-01

    Acute infantile spinal muscular atrophy (SMA type I, Werdnig-Hoffmann disease) has generally been accepted as an autosomal recessive disorder. However, several investigators have noted a slightly increased male to female ratio. We describe here a family with two affected male sibs who had a form of acute infantile SMA with congenital bone fractures, whose parents were first cousins. Pedigree analysis

  12. Association analysis of polymorphisms of the CRHR1 gene with infantile spasms

    PubMed Central

    YANG, GUANG; ZOU, LI-PING; WANG, JING; SHI, XIU-YU; YANG, XIAO-FAN; WANG, BIN; LIU, YU-JIE; SUN, YAN-HONG; JIA, FEI-YONG

    2015-01-01

    While >200 types of etiologies have been shown to be involved in the pathogenesis of infantile spasms, the pathophysiology of infantile spasms remains largely elusive. Pre-natal stress and hypothalamic-pituitary-adrenal axis dysfunction were shown to be involved in the development of infantile spasms. To test the genetic association between the CRHR1 gene, which encodes the corticotrophin-releasing hormone (CRH) receptor, and infantile spasms, five single nucleotide polymorphisms (SNPs) in the CRHR1 gene were genotyped in a sample set of 128 cases with infantile spasms and 131 healthy controls. Correlation analysis was performed on the genotyped data. Under the assumption of the dominant model, the selected five SNPs, rs4458044, rs171440, rs17689966, rs28364026 and rs242948, showed no association with the risk of infantile spasms and the effectiveness of adrenocorticotropic hormone treatment. In addition, subsequent haplotype analysis suggested none of them was associated with infantile spasms. In conclusion, the experimental results of the present study suggested no association between the CRHR1 gene and infantile spasms in a Chinese population. PMID:25954915

  13. Selective Type II Muscle Fiber Hypertrophy in Severe Infantile Spinal Muscular Atrophy

    Microsoft Academic Search

    Douglas W. Kingma; Daniel L. Feeback; Warren A. Marks; Gary B. Bobele; Richard W. Leech; Roger A. Brumback

    1991-01-01

    The diagnostic muscle biopsy finding in severe infantile spinal muscular atrophy (Werdnig-Hoffmann disease, SMA type 1) is considered to be large-group atrophy with isolated clusters of hypertrophic type I myofibers. We present a unique case of severe infantile spinal muscular atrophy with selective hypertrophy of type II myofibers. A male infant presented at age 2 months with breathing difficulties and

  14. 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

  15. Association analysis of polymorphisms of the CRHR1 gene with infantile spasms.

    PubMed

    Yang, Guang; Zou, Li-Ping; Wang, Jing; Shi, Xiu-Yu; Yang, Xiao-Fan; Wang, Bin; Liu, Yu-Jie; Sun, Yan-Hong; Jia, Fei-Yong

    2015-08-01

    While >200 types of etiologies have been shown to be involved in the pathogenesis of infantile spasms, the pathophysiology of infantile spasms remains largely elusive. Pre-natal stress and hypothalamic-pituitary-adrenal axis dysfunction were shown to be involved in the development of infantile spasms. To test the genetic association between the CRHR1 gene, which encodes the corticotrophin-releasing hormone (CRH) receptor, and infantile spasms, five single nucleotide polymorphisms (SNPs) in the CRHR1 gene were genotyped in a sample set of 128 cases with infantile spasms and 131 healthy controls. Correlation analysis was performed on the genotyped data. Under the assumption of the dominant model, the selected five SNPs, rs4458044, rs171440, rs17689966, rs28364026 and rs242948, showed no association with the risk of infantile spasms and the effectiveness of adrenocorticotropic hormone treatment. In addition, subsequent haplotype analysis suggested none of them was associated with infantile spasms. In conclusion, the experimental results of the present study suggested no association between the CRHR1 gene and infantile spasms in a Chinese population. PMID:25954915

  16. The malignant lymphomas in Africa.

    PubMed

    Jacobs, P

    1991-10-01

    Africa, the "dark continent" and the source of such wonderful tales as King Solomon's Mines and Jock of the Bushveld, has an equally enthralling story to tell about malignant disease in general and the lymphomas in particular as they occur among its varied people. It is uncertain how far back in history contact existed with the rest of the world, primarily in the form of slave trading and colonization by, among others, the Portuguese and the British. Until recent times, however, Africa's secrets have remained largely undisturbed. Fragments of medical information are recorded in the diaries of those early, intrepid explorers, such as Albert Cook, Henry Stanley, David Livingstone, and Albert Schweitzer. However, it is only in recent years that the great natural experiments that have for so long been underestimated, and very much less understood, belatedly started to attract attention. Examples are the systematic studies by Denis Burkitt, who through perseverance unraveled the lymphoma that now bears his name, and the thought-provoking description of the immunoproliferative small intestinal disease carried out by the Cape Town group, with both illustrating the axiom that "the study of man is man." Despite such occasional outstanding achievements, there is still considerable paucity of data pertaining to the various lymphoreticular malignancies, so that only limited conclusions are possible. Certainly, lymphoma in Africa differs from that elsewhere in the world. In part, this may reflect a background of immunologic disturbance attributable to parasitic infestation, viral infection, rampant malnutrition, and the impact of a wide variety of vectors, such as mosquitoes, in disease transmission. Striking differences exist in the distribution of these tumors as the incidence and pattern are followed from the equator to the milder climates in the south. This confirmed phenomenon gives rise to the tantalizing suggestion that, to some significant extent, the changes reflect the influence of geography. Thus, there may be associated alterations in the fauna and flora that determine the presence of intermediary hosts that have an impact on the eventual expression of the malignant clone. Many questions remain unanswered. For example, how can the lower incidence of Hodgkin's disease and the predominance of high-grade malignancies in the tropics and subtropics be explained? To what extent does the lymphocytic and plasmacytic hyperplasia, ascribed to intense antigenic stimulus in Burkitt's lymphoma and myeloma--perhaps even other lymphomas, such as IPSID--predispose the host to a mutational event that leads to the emergence of each distinctive neoplasm?(ABSTRACT TRUNCATED AT 400 WORDS) PMID:1938763

  17. Malignant Leydig cell tumour of the testis.

    PubMed

    Powari, Manish; Kakkar, Nandita; Singh, S K; Rai, R S; Jogai, Sanjay

    2002-01-01

    A case of malignant Leydig cell tumour is presented. It is a rare primary malignant tumour of the testis and occurs exclusively in adults. The present case is of interest because it occurred at the young age of 25 years which is rare. Histologically it showed almost all features which suggest malignancy and also had metastases to the lungs and liver. The clinical details and pathology of this tumour are discussed. PMID:11803271

  18. Infantile hypertrophic pyloric stenosis: does size really matter?

    PubMed

    Hsu, Peter; Klimek, Jan; Nanan, Ralph

    2014-10-01

    Pyloric stenosis is a common infantile disorder typically occurring between 2 weeks and 8 weeks of age. Presentation outside this range and in premature infants is uncommon and often atypical. We present three cases, a pair of premature twins and a 5.5-month-old infant with pyloric stenosis. We highlight that despite their difference in size and weight, ultrasound examination remains a reliable diagnostic tool. However, pyloric measurements should be interpreted in combination with the other dynamic features on ultrasound. PMID:20598068

  19. Infantile Systemic Hyalinosis: Report of 17-year Experience

    PubMed Central

    Raeeskarami, Seyed Reza; Aghighi, Yahya; Afshin, Azadeh; Malek, Abdolreza; Zamani, Ali; Ziaee, Vahid

    2014-01-01

    Background: Infantile Systemic Hyalinosis (ISH) is a very rare autosomal recessive disorder characterized by connective tissue involvement as hyaline deposition in skin, gastrointestinal tract, muscles, glands and other organs. Cases Presentation: We report eight Iranian children (4 male and 4 female) with ISH referred to our hospital from 1996 to 2013. The illness had been diagnosed by clinical manifestations and disease progression. Six of them died and two are alive but very sick. Conclusion: ISH is a very rare disorder with poor prognosis. Seventy five percent of our 8 patients died before 2 years old due to severe diarrhea, malabsorption and/or infection. PMID:26019786

  20. An atypical case of infantile globoid cell leukodystrophy.

    PubMed

    Vos, A J; Joosten, E M; Gabreëls-Festen, A A; Gabreëls, F J; Joosten, E M; Verspreet, F A

    1983-05-01

    A 17-month-old boy with infantile globoid cell leukodystrophy is presented. The diagnosis was made by enzymic assay. Atypical features of his disease included a delayed onset at 12 months and a slow course. At the time of diagnostic evaluation, 5 months after onset, the usual features of opisthotonos posture, slowing of nerve conduction and marked elevation of cerebrospinal fluid protein were still absent. Sural nerve biopsy showed no significant demyelination and only inconspicuous deposition of the characteristic storage products. PMID:6877527

  1. Autosomal recessive polymicrogyria with infantile spasms and limb deformities.

    PubMed

    Ciardo, F; Zamponi, N; Specchio, N; Parmeggiani, L; Guerrini, R

    2001-12-01

    We describe two siblings, a girl and a boy, aged 4 and 2 years and 10 months respectively, born from non-consanguineous parents,with diffuse polymicrogyria, lower limb deformities, infantile spasms and developmental delay. Spasms had a good outcome under antiepileptic drug treatment. Clinical and imaging features were of identical severity in both siblings. Muscle biopsy,creatine kinase, metabolic investigations and chromosomal analysis were normal. This combination of anatomo-clinical features and their occurrence in siblings of both sexes suggests an autosomal recessive malformation syndrome. PMID:11870589

  2. Malignant gastric lymphoma with spontaneous perforation

    PubMed Central

    Shimada, Satoko; Gen, Tokichi; Okamoto, Hiroyuki

    2013-01-01

    Malignant gastric lymphoma, accounting only for 1% of primary gastric carcinoma, is usually a diffuse large B-cell lymphoma. Toyota et al reported that 37% of gastric perforations involved malignancy, generally gastric carcinoma. Fukuda et al found that less than 5% of malignant gastric lymphomas perforate. While it is relatively well known that perforations often take place during chemotherapy, they are rare in patients not receiving chemotherapy. To our knowledge, spontaneous perforation is rare in gastric malignant lymphoma, having been reported in the Japanese literature only 26 times, including this case, in the last 25?years. PMID:23329705

  3. Rationale for Proton Therapy in Pediatric Malignancies

    NASA Astrophysics Data System (ADS)

    Woo, Shiao Y.

    Proton therapy (PT) is being applied with increasing frequency in the treatment of pediatric malignancies. The principal rationale, selected published clinical results, and remaining challenges will be presented.

  4. Indwelling pleural catheters for malignant pleural effusion.

    PubMed

    McPhillips, Dympna; Breen, David

    2015-06-01

    Pleural effusions are a common cause of symptoms in patients with malignancy and can adversely affect quality of life. However, not all effusions in the setting of malignancy are due to the cancer itself and therefore it is essential to perform an extensive assessment to diagnose the underlying aetiology. There are a number of treatment options available to manage a malignant effusion and reduce the associated symptomatology. The choice of intervention depends on a number of factors and, in particular, patient preference. In this paper, we will discuss the role of an indwelling pleural catheter in the outpatient management of individuals with malignant effusions. PMID:26126674

  5. Cytosine modifications in myeloid malignancies.

    PubMed

    Meldi, Kristen M; Figueroa, Maria E

    2015-08-01

    Aberrant DNA methylation is a hallmark of many cancers, including the myeloid malignancies acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS). The discovery of TET-mediated demethylation of 5-methylcytosine (5mC) and technological advancements in next-generation sequencing have permitted the examination of other cytosine modifications, namely 5-hydroxymethylcytosine (5hmC), in these myeloid malignancies on a genome-wide scale. Due to the prominence of mutations in epigenetic modifiers that can influence cytosine modifications in these disorders, including IDH1/2, TET2, and DNMT3A, many recent studies have evaluated the relative levels, distribution, and functional consequences of cytosine modifications in leukemic cells. Furthermore, several therapies are being used to treat AML and MDS that target various proteins within the cytosine modification pathway in an effort to revert the abnormal epigenetic patterns that contribute to the diseases. In this review, we provide an overview of cytosine modifications and selected technologies currently used to distinguish and analyze these epigenetic marks in the genome. Then, we discuss the role of mutant enzymes, including DNMT3A, TET2, IDH1/2, and the transcription factor, WT1, in disrupting normal patterns of 5mC and 5hmC in AML and MDS. Finally, we describe several therapies, both standard, front-line treatments and new drugs in clinical trials, aimed at inhibiting the proteins that ultimately lead to aberrant cytosine modifications in these diseases. PMID:25956466

  6. 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.

  7. [Prognostic factors in malignant gliomas].

    PubMed

    Ushio, Y; Kochi, M

    1996-04-01

    The most important prognostic factor in malignant gliomas is histopathological diagnosis of the tumor. The survival of patients with anaplastic astrocytoma is much longer than that of patients with glioblastoma. The median survival of the former has been improved up to almost 4 years by the recent progress of multidisciplinary treatment, whereas that of the latter has still remained in less than 1.5 years. Other important factors proved to be associated with survival of patients with malignant gliomas are the age of patients, Karnofsky performance status on admission, surgery, radiotherapy and chemotherapy. There is substantial evidence suggesting an association between younger patient age and longer survival in adults with supratentorial anaplastic astrocytoma as well as glioblastoma. It is also consistent with evidence that the patients with better performance status on admission live longer after treatment. Gross total resection of supratentorial anaplastic astrocytoma is directly associated with longer and better survival when compared to subtotal or partial resection. For glioblastoma, however, gross total resection has not been proved to have a significant survival advantage over subtotal or partial removal. Radiotherapy has been proved to be associated with longer survival of patients with supratentorial anaplastic astrocytoma and glioblastoma. Chemotherapy has not proved effective in prolonging the survival of patients with glioblastoma. Multidrug chemotherapy with CCNU, procarbazine and vincristine has proved to have significant survival advantage over BCNU alone, suggesting chemotherapy is also a prognostic factor in patients with anaplastic astrocytoma. PMID:8678527

  8. Malignant gastric ghrelinoma with hyperghrelinemia.

    PubMed

    Tsolakis, Apostolos V; Portela-Gomes, Guida M; Stridsberg, Mats; Grimelius, Lars; Sundin, Anders; Eriksson, Barbro K; Oberg, Kjell E; Janson, Eva T

    2004-08-01

    A characteristic feature of neuroendocrine tumors is production and release of peptide hormone. Ghrelin is a 28-amino acid hormone that stimulates GH release. In this paper, we describe a patient with a metastasizing gastric neuroendocrine tumor displaying intense immunoreactivity for ghrelin and extremely high circulating levels of ghrelin. Tumor tissue biopsies from the primary tumor and one liver metastasis were examined by immunohistochemistry. Ghrelin and several other hormones and tumor markers were measured in blood. The clinical course of the patient was followed. Tumor tissue biopsies showed immunoreactivity for cytokeratin, chromogranin A, human synaptic vesicle protein 2, synaptophysin, and ghrelin. Grossly elevated circulating levels of total ghrelin, 2100 microg/liter (reference interval < 5 microg/liter) and active ghrelin, 28 microg/liter (reference interval < 0.1 microg/liter) were found at presentation. Chromogranin A, chromogranin B, and calcitonin levels were also increased. Both total and active ghrelin increased, despite treatment, during follow-up of the patient. We have identified and characterized a patient with a malignant gastric neuroendocrine tumor secreting ghrelin as the main hormone. This might be a new tumor entity of the stomach, and it is suggested that patients with malignant gastric neuroendocrine tumors should be investigated for ghrelin production. PMID:15292299

  9. Ultrastructural study of benign, low-malignant potential (LMP), and malignant ovarian tumors

    Microsoft Academic Search

    Shin-ichi Ishioka; Satoru Sagae; Eiki Ito; Ryuichi Kudo

    2004-01-01

    Ultrastructural characteristics of benign, low-malignant potential (LMP), and malignant ovarian tumors were investigated, considering the aspects of histologic subtypes and histologic grading. In addition, the histogenesis of ovarian cancer was histologically investigated in an attempt to elucidate whether malignant tumor was generated from benign or LMP tumor, or whether it was generated de novo from normal tissues. Although all the

  10. 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.

  11. Clinical radiobiology of malignant melanoma.

    PubMed

    Bentzen, S M; Overgaard, J; Thames, H D; Overgaard, M; Vejby Hansen, P; von der Maase, H; Meder, J

    1989-11-01

    Tumor-control probability (TCP) was analyzed in a series of 121 patients having 239 histologically proven recurrent or metastatic malignant melanomas. These were treated with fractionated radiotherapy with various doses per fraction, total doses, and overall times. Cutaneous lesions (127, 53%) were treated with electron beams, and more deeply seated tumors (112, 47%) with 60Co or 4-8 MV X-rays. The fraction size was highly variable, and this permitted determination of the alpha/beta ratio in the multifraction linear-quadratic model, which was estimated at 0.57 Gy with 95% confidence limits [-1.07, 2.5] Gy. Treatment time had no demonstrable influence on TCP. Thus this tumor exhibits the fractionation sensitivity characteristic of a late-responding normal tissue, suggesting that an adequate fractionation schedule for malignant melanomas would be characterized by larger-than-conventional doses per fraction, possibly about 6 Gy per fraction. This is consistent with the conclusions of other authors. Tumor size, evaluated as mean tumor diameter, S, had a major impact on TCP: the number of target cells increased as a power function of S with exponent 0.72 (95% confidence limits [0.49, 0.94]. In fact, a considerable amount of the heterogeneity in the dose-response data could be removed by accounting for size. Thus, the weak or absent dose response became highly significant. When a patient had multiple lesions, the responses of these to radiotherapy tended to be similar, thus implying that results were significantly influenced by a "hidden parameter" (such as inherent radiosensitivity or immunological status). A test of the predictive value of the TCP-model was performed in a different series of 183 cutaneous and lymph node malignant melanomas. The observed dose-response relationship in this data set was in good agreement with the model prediction. A chi-square test for goodness-of-fit showed that the variation between predicted and observed results could be explained by the binomial variation on quantal response data. PMID:2587808

  12. Astrocytosis in infantile neuronal ceroid lipofuscinosis: friend or foe?

    PubMed

    Shyng, Charles; Sands, Mark S

    2014-10-01

    Infantile neuronal ceroid lipofuscinosis (INCL; infantile Batten disease) is an inherited paediatric neurodegenerative disease. INCL is caused by a deficiency in the lysosomal enzyme palmitoyl-protein thioesterase-1 (PPT1) and is thus classified as a lysosomal storage disease. Pathological examination of both human and murine INCL brains reveals progressive, widespread neuroinflammation. In fact, astrocyte activation appears to be the first histological sign of disease. However, the role of astrocytosis in INCL was poorly understood. The hallmark of astrocyte activation is the up-regulation of intermediate filaments, such as glial fibrillary acidic protein (GFAP) and vimentin. The role of astrocytosis in INCL was studied in a murine model lacking PPT1 and the intermediate filaments GFAP and vimentin (triple-knockout). This murine model of INCL with attenuated astrocytosis had an exacerbated pathological and clinical phenotype. The triple-knockout mouse had a significantly shortened lifespan, and accelerated cellular and humoural neuroinflammatory response compared with the parental PPT1(-/-) mouse. The data obtained from the triple-knockout mouse strongly suggest that astrocyte activation plays a beneficial role in early INCL disease progression. A more thorough understanding of the glial responses to lysosomal enzyme deficiencies and the accumulation of undergraded substrates will be crucial to developing effective therapeutics. PMID:25233404

  13. Protective effect of probiotics in the treatment of infantile eczema

    PubMed Central

    LIN, RONG-JUN; QIU, LI-HUA; GUAN, REN-ZHENG; HU, SU-JUAN; LIU, YING-YING; WANG, GUANG-JUN

    2015-01-01

    The aim of the present study was to provide evidence for the application of probiotics in the prevention and treatment of infantile eczema by exploring changes in the intestinal Bifidobacteria levels and the Scoring Atopic Dermatitis (SCORAD) index prior and subsequent to treatment with probiotics in infants with eczema. A total of 40 infants with eczema were randomly divided into treatment and control groups. Prior and subsequent to the treatment, the SCORAD index was evaluated and the content of Bifidobacterium bifidum in the stool of each infant in the two groups was quantified using 16S rRNA/DNA quantitative polymerase chain reaction analysis. After four weeks of treatment with B. bifidum triple viable capsules, the levels of B. bifidum increased sharply (P<0.05) and the SCORAD index was notably reduced (P<0.05) as compared with the values prior to treatment. By contrast, neither the content of B. bifidum nor the SCORAD index changed significantly in the control group after four weeks (P>0.05). Following treatment, the levels of B. bifidum in the stools of the treatment group were significantly higher than those in the stools of the control group (P<0.05), and the SCORAD index was significantly lower than that of the control group (P<0.05). In conclusion, probiotic supplementation has a positive effect on the prevention and treatment of infantile eczema.

  14. 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

  15. 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.

  16. 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

  17. Malignancy in Children with Trisomy 21

    Microsoft Academic Search

    KAREN R. RABIN; JAMES A. WHITLOCKb

    Patients with Down syndrome (DS) display a unique spectrum of malignancies, with a 10- to 20-fold higher riskofacuteleukemias,andamarkedlylowerincidence of solid tumors. This review discusses the current un- derstanding of the basis for this distinctive pattern of cancerincidenceandtheclinicalandbiologicfeaturesof the malignant disorders most frequent in DS individ- uals: transient myeloproliferative disease, acute megakaryoblastic leukemia, and acute lymphoblastic leukemia. We also review distinctive

  18. Subungual Malignant Melanoma: Difficulty in Diagnosis

    Microsoft Academic Search

    Barbara Leppard; K. V. Sanderson; F. Behan

    1974-01-01

    Subungual malignant melanoma developed on both great toes of a 61-year-old woman. The lesions had been diagnosed elsewhere as ingrowing toenails and had been treated as such for two years. The difficulty in clinical diagnosis is illustrated by the description of three other patients with subungual malignant melanoma. The tumour should be considered as a possible cause of any persistent

  19. Malignant Rhabdoid Tumor of the Uterine Corpus

    Microsoft Academic Search

    Swei Hsueh; Ting-Chang Chang

    1996-01-01

    Malignant rhabdoid tumor (MRT) was first described as a variant of Wilms’ tumor but was subsequently found to be a highly malignant tumor composed of primitive cells that resemble rhabdomyoblasts. In the past decade, extrarenal MRTs were reported in different locations and organs throughout the body including the female genital tract. We here report an MRT that arose in the

  20. [PET and malignant cerebral tumors].

    PubMed

    Talbot, Jean-Noël; Kerrou, Khaldoun; Gault, Nicolas; Gutman, Fabrice; Grahek, Dany; Touboul, Emmanuel; Schlienger, Michel; Montravers, Françoise

    2006-09-01

    Normal biodistribution of FDG includes intense physiologic uptake in the brain, which consumes glucose. The high background therefore makes it difficult to detect the foci taking up glucose, which correspond to malignant lesions. FDG PET is nevertheless clinically useful for detecting high-grade gliomas, cerebral lymphomas and, in some cases, unexpected brain metastases in whole-body PET examinations. As an adjunct to CT and MRI, FDG-PET can make stereotactic radiosurgery more precise in targeting primary or secondary brain cancers and can differentiate necrotic fibrosis from viable cancer tissue during follow-up in cases of abnormal or equivocal MRI results. When available, methionine-(11C) PET delineates low grade gliomas accurately. Several fluorine (18F)-labeled radiopharmaceuticals have been proposed in this setting, with FET and FDOPA apparently the most effective. Four original clinical cases illustrating performances of FET and FDOPA PET in this setting are presented. PMID:16969331

  1. Oncolytic poliovirus against malignant glioma

    PubMed Central

    Goetz, Christian; Dobrikova, Elena; Shveygert, Mayya; Dobrikov, Mikhail; Gromeier, Matthias

    2011-01-01

    In cancerous cells, physiologically tight regulation of protein synthesis is lost, contributing to uncontrolled growth and proliferation. We describe a novel experimental cancer therapy approach based on genetically recombinant poliovirus that targets an intriguing aberration of translation control in malignancy. This strategy is based on the confluence of several factors enabling specific and efficacious cancer cell targeting. Poliovirus naturally targets the vast majority of ectodermal/neuroectodermal cancers expressing its cellular receptor. Evidence from glioblastoma patients suggests that the poliovirus receptor is ectopically upregulated on tumor cells and may be associated with stem cell-like cancer cell populations and proliferating tumor vasculature. We exploit poliovirus’ reliance on an unorthodox mechanism of protein synthesis initiation to selectively drive viral translation, propagation and cytotoxicity in glioblastoma. PVSRIPO, a prototype nonpathogenic poliovirus recombinant, is scheduled to enter clinical investigation against glioblastoma. PMID:21984883

  2. Surgery for malignant pleural mesothelioma.

    PubMed

    Sugarbaker, David J; Wolf, Andrea S

    2010-06-01

    The role of surgery for malignant pleural mesothelioma encompasses the need for rapid diagnosis, preoperative staging and surgical resection, and also the need for a greater biological understanding of this rare and aggressive malignancy. In the multimodality treatment paradigm, the goal of surgery is to provide a macroscopic complete resection (i.e., complete removal of all grossly visible tumor). Two operations have evolved: extrapleural pneumonectomy and pleurectomy/decortication. The former is indicated for patients with advanced locally invasive disease; the latter for patients with more superficial spread of tumor that spares the lung and fissures. If critical mediastinal structures (e.g., aorta and vertebral bodies) are found to be involved at thoracotomy, the tumor is classified as T4, and pleurectomy/decortication is recommended. Despite having more advanced disease, a subset of patients with favorable prognostic factors can experience extended survival by undergoing trimodality therapy with extrapleural pneumonectomy, chemotherapy and/or radiation. The influence of surgery goes beyond diagnosis and resection. Much of what we know about the biology of mesothelioma has been gleaned from studying the surgical pathophysiology, including the delineation of histopathologic subtypes, disease stage stratification with survival, the propensity for local (in contrast to systemic) recurrence, as well as the prognostic effect of epithelial versus nonepithelial cell type, extrapleural nodal involvement, tumor bulk and surgical margins. Pending the discovery of new drugs, the focus of clinical research over the next 5 years will emphasize refinements in patient selection, pathologic staging, molecular staging and other novel adjuvant therapies. PMID:20524919

  3. Oral malignant melanoma--an unusual presentation.

    PubMed

    Thomas, Priya Sara; Babu, Gogineni Subhas; Anusha, Rangare Laxman; Shetty, Shishir

    2012-06-01

    Malignant melanoma is the least common but most deadly of all primary skin cancers. Oral malignant melanoma is a rare aggressive neoplasm usually seen in middle aged persons. This malignancy is more frequently seen on the hard palate and gingiva. Oral melanomas are associated with very poor prognosis because of the tendency to metastasise or invade tissues locally more readily than other malignant tumours of the oral cavity especially in the case of a geriatric patient. The surgical approach, combined with the chemotherapy, is the first choice treatment. This report highlights a case report of 71-year-old female patient diagnosed and treated surgically for an oral malignant melanoma of the pedunculated variety affecting the hard palate and gingiva with review of literature. PMID:22612841

  4. 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.

  5. From Melanocyte to Metastatic Malignant Melanoma

    PubMed Central

    Bandarchi, Bizhan; Ma, Linglei; Navab, Roya; Seth, Arun; Rasty, Golnar

    2010-01-01

    Malignant melanoma is one of the most aggressive malignancies in human and is responsible for almost 60% of lethal skin tumors. Its incidence has been increasing in white population in the past two decades. There is a complex interaction of environmental (exogenous) and endogenous, including genetic, risk factors in developing malignant melanoma. 8–12% of familial melanomas occur in a familial setting related to mutation of the CDKN2A gene that encodes p16. The aim of this is to briefly review the microanatomy and physiology of the melanocytes, epidemiology, risk factors, clinical presentation, historical classification and histopathology and, more in details, the most recent discoveries in biology and genetics of malignant melanoma. At the end, the final version of 2009 AJCC malignant melanoma staging and classification is presented. PMID:20936153

  6. The paradoxes of the infantile sexual: A case of extemporal temporality.

    PubMed

    Kahn, Laurence

    2014-10-18

    The theoretical tension raised by the concept of infantile neurosis is featured all through the Freudian corpus - caught at the crossroads between the psychic facts of the child's development (infantile history and clinical study of pathologies) and the universal structure of unconscious complexes, including the Oedipus complex (the model of intrapsychic conflicts and of the process of "civilisation" undergone by the child). Inscribed in diachronic "temporality" like every individual lived experience and its vicissitudes, or "extemporal" like every organising schema and the structuring of repressions that it elicits, infantile neurosis leads us to examine the metapsychological status of defence mechanisms. PMID:25327258

  7. Phyllodes tumor of the breast containing the intracytoplasmic inclusion bodies identical with infantile digital fibromatosis.

    PubMed

    Hiraoka, N; Mukai, M; Hosoda, Y; Hata, J

    1994-05-01

    This report illustrates a case of the phyllodes tumor of the breast with intracytoplasmic inclusion bodies that are diffusely distributed over the tumor. The inclusion bodies were identified as aggregated actin filaments by modified immunohistochemical and ultrastructural analyses. These structures are thought to be identical to those of the characteristic intracytoplasmic inclusion bodies observed in the case of infantile digital fibromatosis. To date, tumors with such intracytoplasmic inclusion bodies have been recognized exclusively as infantile digital fibromatosis. Although a few rare cases in which the infantile digital fibromatosis-like tumor occurred outside the digit or in adulthood, all these cases were in the category of fibromatosis or fibroma. This case is the first instance of the tumor containing intracytoplasmic inclusion bodies identical with the infantile digital fibromatosis other than fibromatosis or fibroma. PMID:8172324

  8. The Effects of Leptin Antagonist on Hypothalamic Neuropeptide Y Circuitry in Infantile Male Lambs. 

    E-print Network

    Bedenbaugh, Michelle

    2012-04-16

    It is proposed that leptin signaling during infantile development is critical for structural organization of hypothalamic circuitry involved in the control of food intake and energy expenditure. The present study tested the hypothesis...

  9. Malignant Mesothelioma Diagnosed by Bronchoscopic Biopsy.

    PubMed

    Park, Yeon-Hee; Choi, Jae-Woo; Jung, Sang-Ok; Cho, Min-Ji; Kang, Da-Hyun; Chung, Chae-Uk; Park, Dong-Il; Moon, Jae-Young; Park, Hee-Sun; Jung, Sung-Soo; Kim, Ju-Ock; Kim, Sun-Young; Lee, Jeong-Eun

    2015-07-01

    Malignant mesothelioma is a rare malignant neoplasm that arises from mesothelial surfaces of the pleural cavity, peritoneal cavity, tunica vaginalis, or pericardium. Typically, pleural fluid cytology or closed pleural biopsy, surgical intervention (video thoracoscopic biopsy or open thoracotomy) is conducted to obtain pleural tissue specimens. However, endobronchial lesions are rarely seen and cases diagnosed from bronchoscopic biopsy are also rarely reported. We reported the case of a 77-year-old male who was diagnosed as malignant mesothelioma on bronchoscopic biopsy from obstructing masses of the endobronchial lesion. PMID:26175790

  10. II. Malignant potential of gastric polyps.

    PubMed

    Ming, S C

    1976-01-01

    The malignant potential of gastric polyps is correlated to their features. The vast majority can be divided into two types: hyperplastic polyp and ademona. Hyperplastic polyp is composed of well-differentiated glands and rarely becomes malignant. It is small, smooth-surfaced, often multiple, and randomly distributed. Adenoma is composed of dysplastic glands and often becomes malignant. The small adenoma is flat-surfaced and slightly raised. The large adenoma is papillary and broad-based. Adenoma is usually single and located in the antrum. In either case, a separate independent carcinoma may be present in the same stomach. PMID:1052453

  11. Histological patterns in orbital malignant tumors.

    PubMed

    Ibric-Cioranu, Viorel; Nicolae, Vasile; Iorgulescu, Daniel; F?ge?an, Iulian Mihai; Petrescu Seceleanu, Vlad; Cernu?c?-Mi?ariu, Mihaela; Nicolae, Silviu; Ibric-Cioranu, Sorin

    2014-01-01

    There is a wide variety of tumors affecting the orbit. The most encountered histological type of malignant orbital tumor is the basal cell carcinoma followed by the malignant melanoma and the squamous cell carcinoma. The authors conducted a retrospective review of the malignant orbit tumors from the Department of Oral and Maxillofacial Surgery, University Emergency Hospital of Sibiu, Romania. The main surgical methods implied were tumor resection, exenteration and extended exenteration. The reconstruction was performed with the help of local flaps using different techniques: advancement, translation or rotation. The use of local flaps allowed for a good esthetic outcome and a decrease in the healing time. PMID:25178348

  12. A case of intracranial malignant fibrous histiocytoma

    PubMed Central

    Sarrami, Amir Hossein; Setareh, Mehrdad; Afshar-Moghaddam, Noushin; Izadinejad, Masoud; Saadatnia, Mohammad

    2011-01-01

    We describe a case of intracranial malignant fibrous histiocytoma which had infiltrated pons, cerebellum and basal surface of left temporal lobe without any visible mass. The patient presented with a sudden loss of consciousness and vomiting. Clinical findings, laboratory tests, imaging and examination of the cerebrospinal fluid tended to establish the diagnosis of an infectious condition than a malignancy. Without any response to the antibiotics and with a progressive deterioration of neurologic and mental condition, the patient died after 20 days. In the autopsy, histological and immunohistochemical study of the brain revealed the diagnosis of malignant fibrous histiocytoma (MFH). PMID:22279468

  13. Malignant Mesothelioma Diagnosed by Bronchoscopic Biopsy

    PubMed Central

    Park, Yeon-Hee; Choi, Jae-Woo; Jung, Sang-Ok; Cho, Min-Ji; Kang, Da-Hyun; Chung, Chae-Uk; Park, Dong-Il; Moon, Jae-Young; Park, Hee-Sun; Jung, Sung-Soo; Kim, Ju-Ock; Kim, Sun-Young

    2015-01-01

    Malignant mesothelioma is a rare malignant neoplasm that arises from mesothelial surfaces of the pleural cavity, peritoneal cavity, tunica vaginalis, or pericardium. Typically, pleural fluid cytology or closed pleural biopsy, surgical intervention (video thoracoscopic biopsy or open thoracotomy) is conducted to obtain pleural tissue specimens. However, endobronchial lesions are rarely seen and cases diagnosed from bronchoscopic biopsy are also rarely reported. We reported the case of a 77-year-old male who was diagnosed as malignant mesothelioma on bronchoscopic biopsy from obstructing masses of the endobronchial lesion.

  14. [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

  15. Hyperthermic treatment of cutaneous malignancies.

    PubMed

    Draelos, Z K; Levine, N

    1983-10-01

    Malignant cells are susceptible to high temperatures, and recent technical advances have allowed heat to be concentrated at the site of the neoplasm in vivo. The mechanism(s) of hyperthermic cytotoxicity is(are) unclear but may involve cellular accumulation of nuclear proteins, plasma membrane damage, and/or lysosomal effects. Three methods of localized hyperthermia delivery have been described: ultrasound, radiofrequency, and microwave. All involve production of high-energy save forms which are produced by passing electrical energy through an oscillator that produces heat of sufficient magnitude to cause tumor necrosis. Temperatures of at least 42 degrees C are necessary, but other factors, such as tissue pH, metabolic depletion, tissue hypoxia, and tumor vascularity, also influence cell killing. Hyperthermic treatment of cutaneous neoplasms may have great potential usefulness. Animal studies show high cure rates for squamous cell carcinoma with the use of radiofrequency hyperthermia. Human trials are needed before this technic can be considered suitable for clinical use. PMID:6355221

  16. Noncoding RNAs in Endocrine Malignancy

    PubMed Central

    Kentwell, Jessica; Gundara, Justin S.

    2014-01-01

    Only recently has it been uncovered that the mammalian transcriptome includes a large number of noncoding RNAs (ncRNAs) that play a variety of important regulatory roles in gene expression and other biological processes. Among numerous kinds of ncRNAs, short noncoding RNAs, such as microRNAs, have been extensively investigated with regard to their biogenesis, function, and importance in carcinogenesis. Long noncoding RNAs (lncRNAs) have only recently been implicated in playing a key regulatory role in cancer biology. The deregulation of ncRNAs has been demonstrated to have important roles in the regulation and progression of cancer development. In this review, we describe the roles of both short noncoding RNAs (including microRNAs, small nuclear RNAs, and piwi-interacting RNAs) and lncRNAs in carcinogenesis and outline the possible underlying genetic mechanisms, with particular emphasis on clinical applications. The focus of our review includes studies from the literature on ncRNAs in traditional endocrine-related cancers, including thyroid, parathyroid, adrenal gland, and gastrointestinal neuroendocrine malignancies. The current and potential future applications of ncRNAs in clinical cancer research is also discussed, with emphasis on diagnosis and future treatment. PMID:24718512

  17. Molecular Dermatopathology in Malignant Melanoma

    PubMed Central

    Reginster, Marie-Annick; Pierard-Franchimont, Claudine; Piérard, Gérald E.; Quatresooz, Pascale

    2012-01-01

    At present, immunohistochemistry is taken for granted in the establishment of malignant melanoma (MM) diagnosis. In recent years, molecular diagnosis in dermatopathology has benefited from a vast array of advances in the fields of genomics and proteomics. Sensitive techniques are available for detecting specific DNA and RNA sequences by molecular hybridization. This paper intends to update methods of molecular cytogenetics available as diagnostic adjuncts in the field of MM. Cytogenetics has highlighted the pathogenesis of atypical melanocytic neoplasms with emphasis on the activation of the mitogen-activated protein kinase (MAPK) signalling pathway during the initiation step of the neoplasms. 20 to 40% of MM families have mutations in the tumour suppressor gene p16 or CDKN2A. In addition, somatic mutations in p16, p53, BRAF, and cKIT are present in MM. Genome-wide scan analyses on MM indicate positive associations for genes involved in melanocytic naevi, but MM is likely caused by a variety of common low-penetrance genes. Molecular dermatopathology is expanding, and its use in the assessment of melanocytic neoplasms appears to be promising in the fields of research and diagnosis. Molecular dermatopathology will probably make its way to an increased number of diagnostic laboratories. The expected benefit should improve the patient management. This evolution points to a need for evolution in the training requirements and role of dermatopathologists. PMID:22028703

  18. 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

  19. 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

  20. [Forearm malignant epithelioid schwannoma associated with melanoma].

    PubMed

    García-Alvarez García, F E; García-Alvarez García, I; Castiella, T; García-Alvarez Alvarez, F

    2003-04-01

    Tumours originating in peripheric nerves usually appear in patients with neurofibromatosis (NF) signs, presenting frequent combinations of tumours in nerves and cutaneous lesions. Nevertheless, this association is very rare in cases without NF. Therefore, the aim of the present article is to present a case of malignant melanoma and malignant schwannoma, without any described NF. A 69-year-old woman with antecedents of malignant melanoma diagnosed two years previously in the dorsum of the fifth finger of the left hand, treated by means of amputation of the finger. The patient presented a malignant epithelioid schwannoma adhered to the median nerve that required elbow amputation. One month later lung metastases appeared and the patient died. This case presented no known NF sign. However, a relationship must be searched for in the common origin of melanoma and schwannoma from the embryonic neural crest. PMID:12768834

  1. [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

  2. Toward automated detection of malignant melanoma

    E-print Network

    Gareau, Daniel S.

    In vivo reflectance confocal microscopy shows promise for the early detection of malignant melanoma (MM). Two hallmarks of MM have been identified: the presence of pagetoid melanocytes in the epidermis and the breakdown ...

  3. Desmoplastic malignant mesothelioma of the peritoneum

    PubMed Central

    Badak, Bartu; Turk, Ozgur; Ates, Ersin; Arik, Deniz

    2014-01-01

    Malignant mesothelioma is an uncommon neoplasm arising in body cavities lined by the mesothelium. Immunohistochemical stains are useful for making a diagnosis, but the correct combination of antibodies as should be selected in a comprehensive assessment. A peritoneal origin combined with desmoplastic histology is an extremely rare disease entity. Here, we report a case of the primary peritoneal malignant mesothelioma. A 53-year-old man admitted to the hospital with abdominal distension and pelvic pain. In laparotomy, peritonitis carcinomatosa situation was exposed. Multiple biopsies were taken from omentum, peritoneum and fascia. Calretinin, WT-1, D2-40, keratin 5/6, mesothelin, keratin 7, keratin 20, CD99, CEA, smooth muscle actin, desmin, CD34 and S-100 were negative. With these findings tumor was evaluated as desmoplastic malignant mesothelioma of the peritoneum. Currently, no established standard treatments for malignant peritoneal mesothelioma, but early diagnosis by exploratory laparotomy followed by chemotherapy may have contributed to longer survival for patients. PMID:25988025

  4. Pulmonary Malignancies in the Immunocompromised Patient

    Microsoft Academic Search

    Jacques Cadranel; Jean-Marc Naccache; Marie Wislez; Charles Mayaud

    1999-01-01

    Clinicians should be familiar with immunodeficiency-related malignancies, as their incidence is expected to increase further with the rise in the number and survival of immunocompromised patients. The most common malignancies affecting the lungs in those patients are Kaposi’s sarcoma, non-Hodgkin’s lymphoma and, to a far less extent, Hodgkin’s disease and bronchogenic carcinoma. However, their relative frequency depends on the types

  5. Malignant mesothelioma: Canadian perspective and research directions

    PubMed Central

    Lee, C.W.; Martin, J.; MacRae, R.; Tsao, M.S.; Nguyen, E.; Johnston, M.; Baas, P.; Laurie, S.; Feld, R.; Murray, N.; Shepherd, F.A.

    2008-01-01

    Since the 1960s, the incidence of malignant mesothelioma in Canada has increased dramatically because of work-related asbestos exposures. Treatment options are limited. Although chemotherapy is now an accepted standard in the management of advanced disease, uncertainty surrounds the roles of radical surgery and radiation. In March 2007, a symposium was held in Vancouver, B.C., to review the current approach to malignant mesothelioma in Canada and to discuss development of a national clinical research strategy.

  6. Malignant peripheral nerve sheath tumor of mandible.

    PubMed

    Zakhary, Ibrahim; Elsalanty, Mohammed; Ishag, Ilia; Taher, Taher; Hassan, Mohammed; Gehani, Rafi; Orafi, Marai; El-Mekkawi, Hatem

    2011-03-01

    Malignant peripheral nerve sheath tumor is a common tumor that rarely affects the head and neck region. The patient presented in this report is a teenage girl presented with a lesion in the right body of the mandible with severe disfigurement of the lower face. The lesion was first histopathologically diagnosed as embryonal rhabdomyosarcoma. After excision, however, the histopathology report proved the diagnosis of malignant peripheral nerve sheath tumor. PMID:21415661

  7. Extracorporeal irradiation for malignant bone tumors

    Microsoft Academic Search

    Angela Hong; Graham Stevens; Paul Stalley; Susan Pendlebury; Verity Ahern; Anna Ralston; Edgar Estoesta; Ian Barrett

    2001-01-01

    Purpose: Extracorporeal irradiation (ECI) has been used selectively in the management of primary malignant bone tumors since 1996. We report our techniques for ECI and the short-term oncologic and orthopedic outcomes.Methods and Materials: Sixteen patients with primary malignant bone tumors were treated with ECI from 1996 to 2000. The median age was 14 years. The histologic diagnoses were Ewing’s sarcoma

  8. Malignant syphilis in an immunocompetent female patient.

    PubMed

    Requena, Camila Bueno; Orasmo, Cínthia Rosane; Ocanha, Juliana Polizel; Barraviera, Silvia Regina Catharino Sartore; Marques, Mariangela Esther Alencar; Marques, Silvio Alencar

    2014-01-01

    Malignant syphilis is an uncommon manifestation of secondary syphilis, in which necrotic lesions may be associated with systemic signs and symptoms. Generally it occurs in an immunosuppressed patient, mainly HIV-infected, but might be observed on those who have normal immune response. Since there is an exponential increase in the number of syphilis cases, more diagnoses of malignant syphilis must be expected. We report a case in an immunocompetent female patient. PMID:25387504

  9. Cancer associated fibroblasts in hematological malignancies

    PubMed Central

    Raffaghello, Lizzia; Vacca, Angelo; Pistoia, Vito; Ribatti, Domenico

    2015-01-01

    Tumor microenvironment plays an important role in cancer initiation and progression. In hematological malignancies, the bone marrow represents the paradigmatic anatomical site in which tumor microenvironment expresses its morphofunctional features. Among the cells participating in the composition of this microenvironment, cancer associated fibrobasts (CAFs) have received less attention in hematopoietic tumors compared to solid cancers. In this review article, we discuss the involvement of CAFs in progression of hematological malignancies and the potential targeting of CAFs in a therapeutic perspective. PMID:25474039

  10. Dual Primary Malignancy: A Rare Organ Combination

    PubMed Central

    Acharya, Preetam; Ramakrishna, Anand; Kanchan, Tanuj; Magazine, Rahul

    2014-01-01

    A 63-year-old female smoker was evaluated for lump over the right breast, fine needle aspiration cytology of which showed infiltrating ductal carcinoma. Investigations also revealed the presence of left upper lobe mass lesion, the biopsy of which suggested small cell carcinoma. The existence of two malignancies having different histopathologies at anatomically distinct sites suggests the diagnosis of dual primary malignancy involving the breast and the lung which, being a rare combination, prompted us to report the case. PMID:25400968

  11. Endoscopic treatment of malignant biliary strictures.

    PubMed

    Rustagi, Tarun; Jamidar, Priya A

    2015-01-01

    Endoscopic stenting is a widely accepted strategy for providing effective drainage in both extrahepatic and intrahepatic malignant strictures. In patients with extrahepatic malignancies, uncovered self-expanding metal stents (SEMS) provide excellent palliation. Hilar malignancies are probably best palliated by placement of uncovered SEMS although some disagreement exists among experts regarding the type and number of stents for optimal palliation. Preoperative biliary drainage (PBD) is commonly performed although a higher risk of complications and the lack of clear benefit raise questions about this practice. Certain groups of patients such as those with markedly elevated bilirubin levels, and in those in whom neoadjuvant therapy is planned, are good candidates for PBD. Considerable controversy exists regarding the optimal method as well as type of stent for PBD in patients with hilar malignancies. Novel endoscopic therapies, including photodynamic therapy and radiofrequency ablation, have emerged as potential adjuvant therapies in the management of malignant bile duct strictures but need further long-term evaluation to establish survival benefit. This review focuses on the current status of endoscopic therapies for malignant biliary obstructions. PMID:25613178

  12. Malignant Melanoma of the External Auditory Canal

    PubMed Central

    Kumar, Prasanna; Ravikumar, A; Joseph, Leena Dennis; Rajendiran, Swaminathan

    2014-01-01

    Primary malignant melanoma of the external auditory canal is rarely reported. Malignant melanoma of the ear is estimated to occur in 1-4% of all skin melanomas and about 7-20% of melanomas of the head and neck region. The pathophysiology of these tumours is different from other skin lesions because of their anatomical and functional characteristics. The case presented is of a 11 year old female child with malignant melanoma of the external auditory canal confined to the right side, who initially presented with right ear pain, bleeding, post auricular swelling and also a mass in the external auditory canal which was thought to be an aural polyp in the right ear. Excision of the tumour was accomplished by a radical mastoidectomy. It was confirmed to be malignant melanoma after histopathological examination and Immunohistochemistry. Despite all efforts, the patient succumbed to the disease after receiving three cycles of chemotherapy. Even though this malignancy is rarely found in the external auditory canal, it should be expanded into the differential diagnosis of an aural polyp and a post aural abscess. The incidence, symptoms, investigations, treatment and prognosis of malignant melanoma of the external auditory canal is discussed in this article. PMID:25302202

  13. Current concepts in malignant hyperthermia.

    PubMed

    Finsterer, Josef

    2002-12-01

    Malignant hyperthermia (MH) is a rare, potentially lethal, clinically and genetically heterogeneous pharmacogenic myopathy, which during or after general anesthesia manifests as MH crisis (MHC) in genetically predisposed, but otherwise mostly normal, individuals (MH susceptibles) in response to anesthetic-triggering agents. MHC can also occur in patients with central core disease. MCH-like crises have been reported in those with Duchenne/Becker muscular dystrophy, myotonic dystrophy, mitochondriopathy, and various other conditions. MH susceptibility is diagnosed if there is an MHC in the individual or family history or by the in vitro caffeine-halothane contracture test. Although screening for mutations in the ryanodine-receptor-1 gene and the dihydropyridine-receptor gene, respectively, could further substantiate the diagnosis, the caffeine-halothane-contracture test still remains the gold standard for diagnosing MH susceptibility. The most well-known triggers of an MHC are depolarizing muscle relaxants and volatile anesthetics. Therapy of an MHC comprises discontinuation of triggering agents, oxygenation, and correction of the acidosis and electrolyte disturbances, treatment of arrhythmias, cooling, and dantrolene. If MH susceptibility is not known preoperatively and an MHC unexpectedly interrupts anesthesia, consultation by a specialist in MH susceptibility after anesthesia is essential to investigate the patient for MH susceptibility or subclinical myopathy, guide laboratory investigations, manage therapy, and counsel the family on further risk. To further reduce morbidity and mortality of those with MHC, anesthesiologists and neurologists should be well educated and should strengthen their clinical vigilance. Research should be intensified and extended with regard to the development of new in vitro tests to further elucidate the heterogeneous genetic background of MH susceptibility. PMID:19078692

  14. Serologic laboratory findings in malignancy.

    PubMed

    Madrid, Félix Fernández; Maroun, Marie-Claire

    2011-11-01

    Autoantibodies are extremely promising diagnostic and prognostic biomarkers of cancer, and have the potential to promote early diagnosis and to make a large impact by improving patient outcome and decreasing mortality. Moreover, autoantibodies may be useful reagents in the identification of subjects at risk for cancer, bearing premalignant tissue changes. Great efforts are being made in many laboratories to validate diagnostic panels of autoantibodies with high sensitivity and specificity that could be useful in a clinical setting. It is likely that prospective studies of sufficiently large cohorts of patients and controls using high-throughput technology may allow the identification of biomarkers with diagnostic significance, and perhaps of discrete antigen phenotypes with clinical significance. The identification of TAAs may also be essential for the development of anticancer vaccines, because autoantibodies found in cancer sera target molecules involved in signal transduction, cell-cycle regulation, cell proliferation, and apoptosis, playing important roles in carcinogenesis. On this basis, molecular studies of antigenantibody systems in cancer promise to yield valuable information on the carcinogenic process. TAAs identified by serum antibodies in cancer sera can be natural immunogenic molecules, useful as targets for cancer immunotherapy. An important problem encountered in the practice of medicine is the identification of healthy individuals in the general population who unknowingly are at high risk of developing cancer. For the rheumatologist, a related problem is the identification of those patients with rheumatic diseases who are at high risk for developing a malignant process. These problems encountered in the fields of cancer and the rheumatic diseases can in the future be helped by new diagnostic instruments based on antibodies. The need for promoting the early diagnosis of cancer is a recognized major public health problem in need of significant research support for the validation of multiple promising but inconclusive studies, with the intention of producing diagnostic panels of autoantibodies in various types of cancers. Cancer developing in patients with rheumatic diseases is also an important problem requiring prospective longterm follow-up studies of patients with rheumatic diseases, particularly because some of the new biologic therapies seem to increase the cancer risk. It is possible that a panel of autoantibodies common to patients with cancer and the rheumatic diseases may prove to be of value in the identification of those patients with ADs at high risk for neoplasms. PMID:22075195

  15. Clonal genomic alterations in glioma malignancy stages.

    PubMed

    James, C D; Carlbom, E; Dumanski, J P; Hansen, M; Nordenskjold, M; Collins, V P; Cavenee, W K

    1988-10-01

    Comparison of constitutional and tumor genotypes at chromosomal loci defined by restriction fragment length alleles has proven useful in determining the genomic position and tissue specificity of recessive mutations that predispose to cancer (Hansen, M.F., and Cavenee, W.K. Cancer Res., 47:5518-5527, 1987). Here we have applied this approach to 53 unrelated patients with glial tumors of varying histological malignancy grade. Loss of constitutional heterozygosity for loci on chromosome 10 was observed in 28 of 29 tumors histologically classified as glioblastoma (malignancy grade IV) whereas no similar losses were observed in any of 22 gliomas of lower malignancy grade. Examination of restriction fragment length alleles on other chromosomes revealed that loss of sequences on chromosomes 13, 17, or 22 had occurred at nonrandom frequencies and in at least one instance of each malignancy grade of adult glioma. The tumors in which loss of constitutional heterozygosity was observed were composed of one or a mixture of glial cell subtypes displaying astrocytic, oligodendrocytic, and/or ependymal differentiation. These results demonstrate a close association of the loss of chromosome 10 sequences with the most malignant histological stage of glioma and that glioblastoma arises as the clonal expansion of an earlier staged precursor. Furthermore they suggest that glioblastoma is a common phenotypic and malignancy terminus for glial tumors of various cellular subtypes which is reached through a common molecular pathway. This approach which involves the identification of malignancy stage specific somatic losses of heterozygosity provides a genotypic, rather than phenotypic, analysis of tumor progression. PMID:2901288

  16. Benign infantile convulsion as a diagnostic clue of paroxysmal kinesigenic dyskinesia: a case series

    PubMed Central

    2014-01-01

    Introduction Paroxysmal kinesigenic dyskinesia is characterized by sudden attacks of involuntary movements. It is often misdiagnosed clinically as psychogenic illness, which distresses the patients to a great extent. A correct diagnosis will improve the quality of life in patients with paroxysmal kinesigenic dyskinesia because treatment with low doses of anticonvulsants is effective for eliminating the clinical manifestations. Paroxysmal kinesigenic dyskinesia can occur independently of or concurrently with benign infantile convulsion. Identification of PRRT2 as the causative gene of benign infantile convulsion and paroxysmal kinesigenic dyskinesia allows genetic confirmation of the clinical diagnosis. Case presentation We describe the clinical features of a Japanese family with either paroxysmal kinesigenic dyskinesia or benign infantile convulsion. A PRRT2 missense mutation (c.981C?>?G, p.Ile327Met) was identified in two patients with benign infantile convulsion and three patients with paroxysmal kinesigenic dyskinesia as well as in two unaffected individuals. Allowing incomplete penetrance in the mutation carriers, this mutation co-segregated completely with the phenotype. The patients with paroxysmal kinesigenic dyskinesia had been misdiagnosed with psychogenic illness for many years. They were correctly diagnosed with paroxysmal kinesigenic dyskinesia when their children visited a pediatrician for benign infantile convulsion. Treatment with carbamazepine controlled their involuntary movements completely. Conclusions Paroxysmal kinesigenic dyskinesia is a treatable movement disorder that is often misdiagnosed clinically as psychogenic illness. It is important to note that two clinically distinct disorders, benign infantile convulsion and paroxysmal kinesigenic dyskinesia, are allelic conditions caused by PRRT2 mutations. Paroxysmal kinesigenic dyskinesia should be suspected in families with a child with benign infantile convulsion. PMID:24886244

  17. Is a CIS phenotype apparent in children with Disorders of Sex Development? Milder testicular dysgenesis is associated with a higher risk of malignancy.

    PubMed

    Chemes, H E; Venara, M; Del Rey, G; Arcari, A J; Musse, M P; Papazian, R; Forclaz, V; Gottlieb, S

    2015-01-01

    All malignant testicular germ cell tumors (TGCT) of adult men are preceded by an in situ stage (CIS) of protracted evolution. The adult CIS is well characterized, but there is debate on the phenotype of infantile CIS, its distinction from delayed maturation of germ cells and prognostic potential. A large series of 43 patients with Disorders of Sex Development (DSD) and dysgenetic testes (90% ranging from neonates to 12 years, mean age 4.7 years), was studied by quantifying dysgenetic features, degree of germ cell abnormalities/atypia (GCA), expression of OCT 3/4 (a pluripotency-undifferentiation marker), germ cell ploidy and evolution to CIS and invasive TGCT. Findings were compared with those of normal testes. The type of gonads present defined three groups of patients: bilateral testes (BT-DSD, n = 21), one testis and one streak gonad (CT-DSD, C for combined, n = 13), and ovarian-testicular combinations (OT-DSD, n = 9). There were 5 boys with infantile CIS, bilateral in 3 (total of 8 infantile CIS) and two patients with adult CIS, bilateral in one (total of 3 adult CIS). Two patients had bilateral seminomas one at 12-17 and the other at 23 years. Histological dysgenesis was significantly higher in CT-DSD (p < 0.05), that had only 1 CIS. The highest frequency of GCA was in BT-DSD (p < 0.05), which coincided with a total of 11CIS + Seminomas. In all patients, aneuploidy was significantly higher (63%) than diploidy (p < 0.02), and GCA were more frequent in aneuploid than in diploid samples (p < 0.02). All CIS and TGCT were OCT 3/4 positive. Finally, there was a significant association between the triad Aneuploidy + GCA + OCT 3/4 positivity and the incidence of CIS (Fisher Exact test p < 0.002, relative risk 7.0). The degree of testicular dysgenesis (derived from abnormal organization of Sertoli cells in fetal testicular cords) is inversely related to the incidence of CIS. Our data demonstrate that the combined use of OCT 3/4 expression, quantification of germ cell abnormalities-atypia and ploidy in dysgenetic testes can satisfactorily identify infantile CIS with high risk of malignant evolution and set it aside from delayed germ cell maturation with lower or nil neoplastic potential. PMID:25598272

  18. Malignant skin lesions in Oshogbo, Nigeria

    PubMed Central

    Oseni, Ganiyu Oyediran; Olaitan, Peter Babatunde; Komolafe, Akinwumi Oluwole; Olaofe, Olaejirinde Olaniyi; Akinyemi, Hezekiah Adebola Morakinyo; Suleiman, Oreoluwa Adeola

    2015-01-01

    Introduction The aim of this study is to retrospectively assess the prevalence of some of skin malignancies in our environment and to provide a data base for creating awareness for prevention and early detection of the diseases in order to reduce morbidity and mortality associated with these skin lesions in our environment. Methods This is a retrospective study of all histologically diagnosed malignant skin lesions which presented at Ladoke Akintola University of Technology Teaching Hospital Osogbo Osun State between January 2006 and December 2010. Results Ninety- eight patients presented with skin cancers out of which 60 (61.2%)were males and 38 (38.8%) were females. Malignant melanoma ranked highest followed by squamous cell carcinoma, dermatofibrosarcoma and basal cell carcinoma in that order. Malignant melanoma affects male more than female and it commonly affects lower limbs. Conclusion Skin malignancies pose a burden to the economy of the country. Efforts should be directed toward prevention, early diagnosis and management in order to abolish or reduce morbidity, as well as mortality associated with late presentation of people in the developing countries.

  19. Infantile status epilepticus in Tunisia. Clinical, etiological and prognostic aspects.

    PubMed

    Tabarki, B; Yacoub, M; Selmi, H; Oubich, F; Barsaoui, S; Essoussi, A S

    2001-07-01

    This retrospective study includes 139 infants (74 girls and 65 boys) treated for status epilepticus at two University hospitals in Tunisia between 1990 and 1997. Their mean age was 11 months. The majority of seizures were generalized (74%) and lasted between 30 minutes and 1 hour (70%). The cause of status epilepticus was classified as acute symptomatic in 56, febrile in 57, remote symptomatic in nine, progressive neurologic in 10 and idiopathic in seven. Overall mortality was 15.8% and neurological sequelae were identified in 36% of the cases during the mean follow-up time of 3.5 years. The incidence of significant sequelae was a function of aetiology (especially acute symptomatic causes) and age (under 1 year of age). We conclude that the most frequent causes of infantile status epilepticus in Tunisia were fever and acute symptomatic causes. Status epilepticus among infants is an important public health problem, with significant associated mortality and morbidity. Management of status epilepticus can be improved by more rapid access to appropriate medical care. PMID:11488648

  20. Vincristine for successful treatment of steroid-dependent infantile hemangiomas.

    PubMed

    Wasserman, Jonathan D; Mahant, Sanjay; Carcao, Manuel; Perlman, Kusiel; Pope, Elena

    2015-06-01

    Infantile hemangiomas (IHs) are common, although systemic therapy has been generally limited to circumstances of potential compromise of vital functions (airway, vision, feeding, or cardiac), risk of disfigurement, or bleeding. IHs have previously been shown to express high levels of type III deiodinase, which catabolizes active thyroid hormone, resulting in a state of severe hypothyroidism, termed "consumptive hypothyroidism." We describe an infant with diffuse hepatic hemangiomas who developed consumptive hypothyroidism who was initially treated successfully with systemic glucocorticoids and ?-blockers. Several efforts to wean her medications were unsuccessful. She subsequently developed severe growth restriction and treatment alternatives were sought. Although previously limited to treatment of life-threatening hemangiomas, a trial of vincristine was initiated. She was ultimately weaned from all systemic therapies, with recovery of a normal growth trajectory. This case highlights broader indications for vincristine as a safe and effective systemic therapy for treatment of IHs. It also stresses the importance of close anthropometric monitoring of infants and toddlers receiving glucocorticoid therapy and intervention when growth compromise becomes evident. PMID:25986022

  1. 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

  2. The social origins of infantile colic: questionnaire study covering 76,747 infants.

    PubMed Central

    Crowcroft, N. S.; Strachan, D. P.

    1997-01-01

    OBJECTIVE: To describe risk factors for infantile colic. DESIGN: Questionnaire administered by health visitors. SETTING: Sheffield. SUBJECTS: Mothers of 76,747 infants born between 1 August 1975 and 31 May 1988, interviewed when the infant was 1 month old. MAIN OUTCOME MEASURES: Reporting of infantile colic and its duration; weight of infant leeding, state of the home, socioeconomic characteristics of the parents, parents' age, and mother's parity. RESULTS: The odds of reporting infantile colic were increased with breast feeding (odds ratio of breast v bottle feeding 1.35 (95% confidence interval 1.28 to 1.43)), increasing parental age, lower parity, increasing parental age at leaving full time education, and more affluent homes and districts of residence. In a logistic regression analysis, mother's age and parity and socioeconomic factors remained the most important risk factors for the reporting of infantile colic (each P < 0.005), and the effect of breast feeding was attenuated (odds ratio of breast v bottle feeding 1.09 (1.02 to 1.15)). CONCLUSION: At a population level, dietary factors contribute little to mothers' reporting of infantile colic, and dietary change should not be the primary intervention. PMID:9158470

  3. 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

  4. The Controversial Role of Food Allergy in Infantile Colic: Evidence and Clinical Management

    PubMed Central

    Nocerino, Rita; Pezzella, Vincenza; Cosenza, Linda; Amoroso, Antonio; Di Scala, Carmen; Amato, Francesco; Iacono, Giuseppe; Berni Canani, Roberto

    2015-01-01

    Food allergies (FAs) are an increasing problem in Western countries, affecting up to 10% of young children. FAs are frequently associated with gastrointestinal manifestations. The role of FAs as a potential causative factor for infantile colic (IC) is still controversial. We report the most recent evidence on the pathogenesis, clinical and diagnostic aspects of FA-induced infantile colic (IC) and suggest a stepwise diagnostic approach. We selected articles on clinical and immunologic features, pathogenesis and management of FAs and IC from of 1981 to 2015. Original and review articles were identified through selective searches performed on PubMed, using the following terms: colic, infantile colic, food allergy and infantile colic, infantile colic treatment. The possible relationship between FAs and IC derives from the presence of dysmotility with visceral hypersensitivity and dysbiosis, demonstrated in both conditions, and the clinical response to dietary interventions. Unfortunately, the design of the studies, poor characterization of atopy and different dietary approaches limit the understanding of the importance of FAs in subjects with IC. The role of FAs in IC subjects without other symptoms of atopy remains controversial. However, where there is a suspicion of FAs, a short trial with an extensively hydrolyzed cow’s proteins formula or, if breast fed, with maternal elimination diet may be considered a reasonable option. PMID:25808260

  5. Review: Cell Dynamics in Malignant Pleural Effusions.

    PubMed

    Giarnieri, Enrico; Bellipanni, Gianfranco; Macaluso, Marcella; Mancini, Rita; Holstein, Adam Carl; Milanese, Carla; Giovagnoli, Maria Rosaria; Giordano, Antonio; Russo, Giuseppe

    2014-09-01

    Malignant pleural effusions (MPEs) are a common manifestation found in patients with lung cancer. After cytological and histological confirmation of malignancy, talc pleurodesis still remains the treatment of choice in patients with MPEs resistant to chemotherapy. Despite this, primary challenges include reduced quality of life and life expectancy in general. Therefore, a better understanding of the cell biology of MPEs, along with improvements in treatment is greatly needed. It has recently been demonstrated that malignant pleural effusions (MPEs) may represent an excellent source for identification of molecular mechanisms within the tumor and its environment. The present review summarizes the current understanding of MPEs cells and tumor microenvironment, and particularly focuses on dissecting the cross-talk between MPEs and epithelial to mesenchymal transition (EMT), inflammation and cancer stem cells. J. Cell. Physiol. © 2014 Wiley Periodicals, Inc. PMID:25205557

  6. [Malignant vascular tumors of the vulva].

    PubMed

    Chokoeva, A; Tchernev, G

    2015-01-01

    Due to the increased vascularity as well as the unique anatomical structure, vascular lesions, which occur in the female reproductive system are common observed and diverse by their morphology. The majority of them are benign, including vascular malformations, lesions due to vascular hyperplasia, tumors with significant vascular component and others. Malignant vascular tumors are rare in the area of the vulva accounting about 1% of all vulvar lesions with vascular origin. Kaposi sarcoma, epithelioid hemangioepithelioma and epithelioid angiosarcoma have been reported with vulvar localization. With a view to their rare incidence, nonspecific clinical manifestation and aggressive behavior associated with high mortality, we present the most common malignant tumors of vascular origin arising in the vulva, as we emphasize on their epidemiology and clinical features, differential diagnosis and therapeutic algorithms for this rare type of malignancies. PMID:25909132

  7. 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

  8. 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

  9. Clinical differences between benign and malignant pheochromocytomas.

    PubMed

    Glodny, B; Winde, G; Herwig, R; Meier, A; Kühle, C; Cromme, S; Vetter, H

    2001-04-01

    Most pheochromocytomas can be cured by resection. In view of the unfavourable prognosis for surgical therapy in cases of late tumour detection and malignant tumours, the aim of the present study is to differentiate between typical signs and symptoms of malignant versus benign pheochromocytomas. We investigated the records of 133 patients retrospectively (1967-1998). In cases of benign tumours (104 of 133, mean age 42+/-15.8 years) tumour size was 5.9+/-3.4 cm, and history was 47.4+/-75.4 months. 7.7% of the tumours were extraadrenal, and 77% had paroxysmal manifestations. The other 29 patients (mean age: 39.2+/-21.9 years) had malignant lesions (tumour size: 9.4+/-5.9 cm (p=0.0022); history: 7.4+/-5.6 months (p=0.0137); extraadrenal: 24.1% (p=0.0219); paroxysmal: 37.9% (p=0.0012)). Symptoms of patients with benign tumours were hypertension (80%), headaches (42.3%), sweating (30.8%), tachycardia (26%) and pallor (24%) (Malignant: Hypertension 46%, p=0.0873; headaches 11%, p=0.0008; sweating 11%, p=0.0196; tachycardia 14%, p=0.1961 and pallor 0%, p=0.0010). Abdominal pain and dorsalgia occurred more frequently in malignant pheochromocytomas (26% versus 7%, p=0.0014). Unusually short histories and extraadrenal localization appear to be suspicious for malignancy. The "typical" clinical signs and symptoms occur more frequently in patients with benign tumours and can therefore be regarded as typical signs of benign pheochromocytomas. PMID:11456261

  10. Practice Parameter: Medical Treatment of Infantile Spasms Report of the American Academy of Neurology and the Child Neurology Society

    Microsoft Academic Search

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

    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,

  11. [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

  12. Malignancy in Children with Trisomy 21

    PubMed Central

    Rabin, Karen R.; Whitlock, James A.

    2009-01-01

    Patients with Down syndrome (DS) display a unique spectrum of malignancies, with a 10 to 20-fold increased risk of acute leukemias, and a markedly decreased incidence of solid tumors. This review discusses current understanding of the basis for this distinctive pattern of cancer incidence, and the clinical and biologic features of the malignant disorders most frequent in DS: transient myeloproliferative disease, acute megakaryoblastic leukemia, and acute lymphoblastic leukemia. We also review distinctive pharmacogenetic issues, highlighting the differential chemosensitivity and toxicity profiles of DS patients compared to the general population; and epidemiologic studies of protective and adverse environmental risk factors for development of leukemia. PMID:19176633

  13. Karzinosarkome (maligne Müller-Mischtumoren) des Uterus

    Microsoft Academic Search

    L.-C. Horn; M. Dallacker; K. Bilek

    2009-01-01

    Zusammenfassung  Maligne Müller-Mischtumoren (MMMT, Karzinosarkome) sind seltene maligne epithelial-mesenchymale Mischtumoren. Mit 30–40% Gesamtüberlebensrate\\u000a zeigen sie eine ungünstigere Prognose als schlecht\\/undifferenzierte bzw. seröse\\/klarzellige Endometriumkarzinome. In Abhängigkeit\\u000a von der Histologie der mesenchymalen Komponente unterscheidet man homologe und heterologe MMMT. Histogenetisch wird die Konversionstheorie\\u000a mit epithelialer Herkunft und Ausbildung einer metaplastischen mesenchymalen Komponente favorisiert. Prognostisch relevant\\u000a ist das FIGO- bzw. pT-Stadium, gefolgt von den

  14. The clinical spectrum of malignant nasal tumors.

    PubMed

    Komorn, R M; McFarlane, J R

    1976-12-01

    Unlike other head and neck cancer, which is almost exclusively squamous cell carcinoma, nasal malignancies present a wide and varied spectrum of tumor types. Classification of these tumors is not standardized and treatment tends to be individualized. In a review of 35 patients with primary nasal malignancies, only 33% had squamous cell carcinoma. Glandular, neurogenic, and hemopoietic tumors accounted for the other major subgroups. Despite the diverse histopathological tumor types, the diagnosis, treatment, and clinical problems seem related more to the nasal location than to the actual type of tumor. Selected cases are presented to illustrate the clinical behavior and problems that occur with nasal tumors. PMID:803067

  15. Radiation-induced intracranial malignant fibrous histiocytoma.

    PubMed

    Gonzalez-Vitale, J C; Slavin, R E; McQueen, J D

    1976-06-01

    An autopsy case of radiation-induced intracranial malignant fibrous histiocytoma (fibroxanthosarcoma) is reported. The tumor developed in the region of the sella turcica 11 years after high dose radiotherapy of a chromophobe adenoma of the pituitary. The tumor had infiltrated the base of the brain as well as the base of the skull. Metastases were not found. The tumor was composed of an admixture of bizarre fibroblasts, histiocytes and giant cells, xanthoma cells and siderophages, with a storiform fibrous stroma. This appears to be the first documented instance of a malignant fibrous histiocytoma occurring intracranially after local x-irradiation. PMID:181126

  16. [Comparative secretory profiles of benign and malignant pheochromocytomas].

    PubMed

    Proye, C; Racadot-Leroy, N; Vix, M; Vermesse, B; Carnaille, B

    1994-01-01

    Distant metastases are the only clue for diagnosis of malignancy in pheochromocytoma patients. This study was designed to define a secretory profile possibly suggestive of malignancy. Among 79 pheochromocytomas (55 benign, 24 malignant), dopamine-secretion, either exclusive or blended with other catecholamines was found in 34.5% of benign and in 75% of malignant tumors. Dopamine secretion, although if more frequent and more abundant in cases of malignant pheochromocytomas, is therefore not actually diagnostic, but only suggestive of malignancy. It demands life-long follow-up as metachronous metastases may supervene extremely late in the course of the disease. PMID:7810975

  17. Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome.

    PubMed

    Borochowitz, Z; Glick, B; Blazer, S

    1991-05-01

    Acute infantile spinal muscular atrophy (SMA type I, Werdnig-Hoffmann disease) has generally been accepted as an autosomal recessive disorder. However, several investigators have noted a slightly increased male to female ratio. We describe here a family with two affected male sibs who had a form of acute infantile SMA with congenital bone fractures, whose parents were first cousins. Pedigree analysis strongly suggested autosomal recessive inheritance, but X linked recessive inheritance could not be ruled out. In view of the heterogeneity of the SMAs, and the distinct clinical features found in our patients, we suggest that their infantile SMA might well be a distinct entity. We suggest that SMA I with congenital contractures and bone fractures appears to be a recognisable disorder that can be distinguished from the more common classic form of SMA I. PMID:1865475

  18. Malignant pirates of the immune system.

    PubMed

    Rui, Lixin; Schmitz, Roland; Ceribelli, Michele; Staudt, Louis M

    2011-10-01

    At great human cost, cancer is the largest genetic experiment ever conducted. This review highlights how lymphoid malignancies have genetically perverted normal immune signaling and regulatory mechanisms for their selfish oncogenic goals of unlimited proliferation, perpetual survival and evasion of the immune response. PMID:21934679

  19. Primary Malignant Melanoma of the Tongue

    Microsoft Academic Search

    Tien-Tse Chiu; Hsin-Ching Lin; Chih-Ying Su; Chao-Cheng Huang

    The oral cavity is a rare location for the development of primary malignant melanoma. The most common primary lesion sites are the palate and gingiva. Melanoma of the tongue is specifically uncommon. A 66-year-old woman was referred to our clinic with a complaint of a huge, painless, black, discolored mass on the right side of the oral tongue for 7

  20. Oral mucosal melanoma: a malignant trap

    Microsoft Academic Search

    Emmanouil K Symvoulakis; Dionysios E Kyrmizakis; Emmanouil I Drivas; Anastassios V Koutsopoulos; Stylianos G Malandrakis; Charalambos E Skoulakis; John G Bizakis

    2006-01-01

    Oral mucosal melanomas are highly malignant tumors. The 'chameleonic' presentation of a mainly asymptomatic condition, the rarity of these lesions, the poor prognosis and the necessity of a highly specialized treatment are factors that should be seriously considered by the involved health provider. We present the case of a 75-year-old man who was referred to the Ear, Nose and Throat

  1. COX-2 expression in nonepithelial ovarian malignancies.

    PubMed

    Menczer, Joseph; Schreiber, Letizia; Sukmanov, Oleg; Czernobilsky, Bernard; Berger, Esther; Golan, Abraham; Levi, Tally

    2011-01-01

    The aim of the study was to assess the expression of cyclooxygenases (COX)-2 in nonepithelial ovarian malignancies.COX-2 immunohistochemical staining was performed on newly prepared deparaffinized slides from formalin-fixed, paraffin-embedded archival tissue blocks of unselected nonepithelial ovarian malignancies diagnosed between January 1993 and October 2009 after reconfirmation of the diagnosis. Staining was assessed according to intensity of staining and the proportion of stained cells. Staining of more than 10% of the cells was considered positive.During the study period, 26 histologically proven nonepithelial ovarian malignancies were diagnosed. Of them, 16 were granulosa cell tumors and 10 were germ cell tumors (4 dysgerminomas and 6 immature teratomas). Five (31.2%) granulosa cell tumors had positive immunohistochemical COX-2 staining. Positive staining was observed only in 1 immature teratoma and in none of the dysgerminomas.Our data seem to indicate that COX-2 expression by immunohistochemical methods is not frequent in nonepithelial ovarian malignancies. PMID:21131835

  2. 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

  3. Malignant catarrhal fever: inching towards understanding

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Malignant catarrhal fever (MCF) is an often lethal infection of many species in the order Artiodactyla, caused by members of the MCF virus group within Gammaherpesvirinae. MCF is a worldwide problem and has a significant economic impact on highly disease-susceptible hosts, such as cattle, bison and ...

  4. Primary peritoneal malignant mixed mesodermal (Müllerian) tumor

    Microsoft Academic Search

    Mahmoud R Hussein; Saad Rezk Abudlwahed Hussein; Ahmad Rezk Abd-Elwahed

    Aims and background. Malignant mixed mesodermal tumor (MMMT) is a biphasic neoplasm (carcinosarcoma) composed of both epithelial and mesenchymal ele - ments. Extragenital MMMT, including primary peritoneal MMMT, is an extremely rare tumor with features consistent with its origin from the secondary Müllerian sys - tem. The neoplastic elements of extragenital MMMT presumably arise directly from themesotheliumorsubmesothelialstromaandhenceparallelthebiphasicpatternof the genital (uterine

  5. Maligne, nichtepitheliale Tumoren des Corpus uteri

    Microsoft Academic Search

    Mathias K. Fehr; Daniel Fink

    ZusammenfassungUterine Sarkome stellen eine heterogene Gruppe von Neoplasien dar, welche etwa 8% der Malignome des Uterus ausmachen. Am häufigsten sind die Karzinosarkome [früher maligne, gemischte mesenchymale Tumoren (MMMT) des Uterus], die etwa 40–50% aller Sarkome stellen. Leiomyosarkome sind am zweithäufigsten und endometriale Stromasarkome am seltensten. Ein ausgedehntes operatives Staging inklusive Lymphadenektomie ist beim Karzinosarkom indiziert. Beim Leiomyosarkom wird eine abdominale

  6. Diagnosis and treatment of malignant pleural effusion

    Microsoft Academic Search

    Frederick H. Hausheer; John W. Yarbro

    1987-01-01

    Pleural effusion is a common and important complication of malignancy which may at times be difficult to diagnose or treat. Its well recognized association with numerous diseases plus the limitations of our usual diagnostic tests may occasionally cause difficulty. In the oncology patient there are a number of common medical problems associated with the development of pleural effusion which frequently

  7. Unusual presentation and location pleural malignant mesothelioma

    PubMed Central

    Kumar, Anjan; Carcano, Carolina; Hadeh, Anas; Lilenbaum, Rogerio

    2013-01-01

    Pleural malignant mesothelioma is an uncommon tumour of the thorax. We report two cases: a patient with atypically isolated location of the tumour at the right hilum and a young female patient. The histopathological and radiological features are reviewed with reference to relevant literature. PMID:23761508

  8. Malignant Solitary Fibrous Tumor of the Pancreas.

    PubMed

    Estrella, Jeannelyn S; Wang, Huamin; Bhosale, Priya R; Evans, Harry L; Abraham, Susan C

    2015-08-01

    Solitary fibrous tumor (SFT) arising in the pancreas is exceedingly rare, with only 11 cases reported in the English literature. All cases described thus far have exhibited benign histology. We report the first case of malignant SFT of the pancreas. The patient was a 52-year-old woman who presented with obstructive jaundice and a 15-cm pancreatic head mass. The mass showed areas with typical histologic features for SFT including small fibroblastlike cells arranged in the well-characterized "patternless pattern" of architecture, hemangiopericytomalike vessels, areas with dense collagen and infrequent mitoses (0-2 per 10 high-power fields [HPFs]). In addition, multiple areas with an overtly sarcomatous morphology were present, containing large spindle and epithelioid cells with nuclear pleomorphism, marked cellularity, up to17 mitoses per 10 HPFs, and necrosis. Immunohistochemical stains were positive for CD34 and B-cell CLL/lymphoma 2 (Bcl-2) in both benign and malignant components and showed strong, diffuse p53 and p16 staining in the malignant component. At last follow-up (40 months), the patient was alive and well without evidence of disease. However, given that the presence of a malignant component in extrapancreatic SFT has been associated with recurrence/metastasis and death, complete surgical resection and close long-term follow-up is required. PMID:26166470

  9. Lower gastrointestinal malignancy in Crohn's disease

    Microsoft Academic Search

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

    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

  10. Wavelengths effective in induction of malignant melanoma

    Microsoft Academic Search

    R. B. Setlow; E. Grist; K. Thompson; A. D. Woodhead

    1993-01-01

    It is generally agreed that sunlight exposure is one of the etiologic agents in malignant melanoma of fair-skinned individuals. However, the wavelengths responsible for tumorigenesis are not known, although DNA is assumed to be the target because individuals defective in the repair of UV damage to DNA are several thousandfold more prone to the disease than the average population. Heavily

  11. 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.

  12. Bone Marrow Lymphoid Aggregates in Malignant Lymphomas

    Microsoft Academic Search

    Mara Dominis; Rajko Kušec

    To examine the usefulness of molecular analysis of IgH gene rearrangement in assessment of clonality in bone marrow biopsies with lymphoid aggregates (LA) and\\/or nodular lymphoid hyperplasia (NLH) in patients with different subtypes of malignant lymphomas. Method Five hundred and twenty nine samples of bone marrow biopsies, taken in a staging procedure at the time of the initial presentation of

  13. [Primary malignant melanoma of the larynx].

    PubMed

    Szmeja, Z; Kruk-Zagajewska, A; Kaczmarek, J; Zieli?ski, L; Majewski, P

    2000-01-01

    Primary malignant melanoma of the larynx is very rare. The case of larynx malignant melanoma in 71-years old men is presented. Hoarseness was the main complaint that encouraged the patient to visit a doctor. The patient was heavy smoker, he had been smoking 40 cigarettes for the last 50 years. He used to drink about 200 ml of pure alcohol per day. In the direct laryngoscopy gluish had cyanotic tumor, extending to the true vocal cord, ventricle, ventricle fold and subglottic space was seen. Enlarged cervical lymph nodes, laterally to the main vessels were found both in palpation and in US examination. Total laryngectomy and neck dissection was performed. The histological examination of surgical specimen revealed; Malignant melanoma. Metastases in the lymph nodes. Neoplastic infiltration of the nodal capsule. The patient was admitted to the complementary radiotherapy. At the moment the follow up in outpatient. The article contains the review of literature concerning the diagnosis, treatment and prognosis in cases of laryngeal malignant melanoma. PMID:10961077

  14. Patterns of second malignant neoplasms in children

    Microsoft Academic Search

    Anna T. Meadows; G. J. DAngio; V. Mike; Alberto Banfi; Curtis Harris; R. D. T. Jenkin; Allen Schwartz

    1977-01-01

    A search of the records of 10 pediatric oncology centers revealed 102 children with more than one malignant neoplasm. In this group of 102 patients, all pediatric cancers were seen as initial lesions, but Wilms' tumor and retinoblastoma were over-represented and leukemia and brain tumors underrepresented. Survival variation as well as tumor susceptibility may be responsible for this disproportion. Osteosarcomas

  15. Medical and oncological management of malignant mesothelioma.

    PubMed

    Bibby, Anna C; Gibbs, Lara; Braybrooke, Jeremy P

    2015-07-01

    Mesothelioma is an aggressive cancer, for which no curative oncological treatment currently exists. This article outlines the options for managing malignant pleural effusions, describes the developments in chemotherapy over the past 10 years and summarizes the evidence for prophylactic and palliative radiotherapy. PMID:26140556

  16. Transcriptome sequencing of malignant pleural mesothelioma tumors

    Microsoft Academic Search

    David J. Sugarbaker; William G. Richards; Gavin J. Gordon; Lingsheng Dong; Assunta de Rienzo; Gautam Maulik; Jonathan N. Glickman; Lucian R. Chirieac; Mor-Li Hartman; Bruce E. Taillon; Lei Du; Pascal Bouffard; Stephen F. Kingsmore; Neil A. Miller; Andrew D. Farmer; Roderick V. Jensen; Steven R. Gullans; Raphael Bueno

    2008-01-01

    Cancers arise by the gradual accumulation of mutations in multiple genes. We now use shotgun pyrosequencing to characterize RNA mutations and expression levels unique to malignant pleural mesotheliomas (MPMs) and not present in control tissues. On average, 266 Mb of cDNA were sequenced from each of four MPMs, from a control pulmonary adenocarcinoma (ADCA), and from normal lung tissue. Previously

  17. Integrating the Diagnosis of Childhood Malignancies

    Microsoft Academic Search

    DOLORES LÓPEZ-TERRADA

    Significant progress has been made in understanding the molecular basis of pediatric malignancies. Mechanisms of pediatric acute leukemia induction include hyperdiploidy, aberrant expression of proto-oncogenes, and activation of trans- cription factors or kinases by aberrant fusion genes. Molecular analysis of these alterations has facilitated the recognition of distinct groups with different sensitivity to therapy, and identified potential targets for antileukemic

  18. Apoptotic response of malignant rhabdoid tumor cells

    Microsoft Academic Search

    Silvano Nocentini

    2003-01-01

    BACKGROUND: Malignant rhabdoid tumors (MRTs) are extremely aggressive and resist current radio- and chemotherapic treatments. To gain insight into the dysfunctions of MRT cells, the apoptotic response of a model cell line, MON, was analyzed after exposure to several genotoxic and non-genotoxic agents employed separately or in association. RESULTS: Fluorescence microscopy of chromatin morphology and electrophoretic analysis of internucleosomal DNA

  19. Malignant rhabdoid tumor of the prostatic region

    Microsoft Academic Search

    Tauno O. Ekfors; Heikki J. Aho; Martti Kekomäki

    1985-01-01

    We describe a malignant rhabdoid tumour of the prostatic region in a 14-year old boy. The tumour showed positive immunoreactivity for epidermal prekeratin, monoclonal cytokeratin, epithelial membrane antigen, carcinoembryonic antigen and monoclonal vimentin but was negative for myoglobin, alfa-fetoprotein and lysozyme. Electron microscopy revealed pleomorphic cells with collections of paranuclear intermediate filaments, sheaves of tonofilaments and abundant microvilli in some

  20. Malignant rhabdoid tumour in the stomach.

    PubMed

    Öfkeli, Özcem; Bulut, Aziz; Yüksek, Yunus Nadi; Y?ld?z, Halil ?brahim

    2015-01-01

    In this case report, a rare tumoral morphology in the gastrointestinal system is introduced. Malignant rhabdoid features are rarely observed in the gastrointestinal system but this discrimination is important due to the tumor's poor prognosis, aggressive behavior and early metastasis. PMID:25931936

  1. Malignant rhabdoid tumor of the colon

    Microsoft Academic Search

    Victoria A. Marcus; Juan Viloria; David Owen; Ming-Sound Tsao

    1996-01-01

    PURPOSE: Malignant rhabdoid tumors were first described in the kidney as a rare variant of Wilms' tumor with a “rhabdomyosarcomatoid” pattern and a particularly poor prognosis. Further studies have demonstrated these neoplasms as a distinct clinicopathologic entity. Subsequently, tumors with a similar histologic appearance, demonstrating the “rhabdoid” cells, have been found in a variety of extrarenal sites. METHODS: We report

  2. Question of an infectious etiology or contribution to the pathogenesis of infantile hypertrophic pyloric stenosis.

    PubMed

    Modarressi, Taher

    2014-05-01

    Infantile hypertrophic pyloric stenosis is a concerning cause of nonbilious vomiting in the neonatal population. Although a number of etiological theories exist, its exact cause remains nebulous. The question of an infectious etiology (or contribution) has been previously examined in case reports and case series, with recent support through suggestions of seasonality and familial aggregation with unclear inheritance patterns. The present review discusses the published literature regarding infectious etiologies of infantile hypertrophic pyloric stenosis. Furthermore, it attempts to demonstrate that newer research regarding an NOS1 genetic etiology does not exclude, but rather can be consistent with, an infectious etiology. PMID:24345839

  3. A comparative study of genetic and neurobiological findings in disintegrative psychosis and infantile autism.

    PubMed

    Mouridsen, S E; Rich, B; Isager, T

    2000-08-01

    Although disintegrative psychosis (DP) was first described in 1908, the validity of the syndrome has not yet been fully documented. To investigate the validity of DP as defined in ICD-9, 13 cases of DP were compared with 39 cases of infantile autism with reference to lifetime parental psychopathology, neuroradiological findings and genetic abnormalities. The groups were matched for gender, age, intellectual level and social class. Apart from a significantly higher rate of electroencephalogram abnormalities in the disintegrative group there was very little in the neurobiological background to support a clear distinction between DP and infantile autism. PMID:10997861

  4. Novel STXBP1 mutations in 2 patients with early infantile epileptic encephalopathy.

    PubMed

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

    2015-04-01

    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

  5. BET 2: Probiotics and crying time in babies with infantile colic.

    PubMed

    Batchelor, Nina; Kelly, Jennifer; Choi, Hyun; Geary, Brona

    2015-07-01

    A short-cut review was carried out to establish whether probiotics reduced crying time in babies with infantile colic. Using the reported searches 88 papers were found, of which five presented the best evidence to answer the clinical question. The author, date and country of publication, patient group studied, study type, relevant outcomes, results and study weaknesses of the best papers are tabulated. It is concluded that there is evidence that the administration of probiotics decreases the severity and duration of infantile colic when compared with placebo and some proprietary remedies. PMID:26092910

  6. How Airway Venous Malformations Differ From Airway Infantile Hemangiomas

    PubMed Central

    Parhizkar, Nooshin; Manning, Scott C.; Inglis, Andrew F.; Finn, Laura S.; Chen, Eunice Y.; Perkins, Jonathan A.

    2013-01-01

    Objective To compare airway infantile hemangiomas (IHs) and venous malformations (VMs) clinically, radiographically, endoscopically, and histologically. Design Retrospective cohort study. Setting Tertiary care pediatric hospital. Patients The study included patients seen in the Vascular Anomaly Clinic, Seattle Children’s Hospital, Seattle, Washington, between 2001 and 2008. Methods All patients with airway vascular anomalies were identified by searching the Vascular Anomaly Quality Improvement Database and hospital discharge data. The data, which were analyzed with descriptive statistics and the Fisher exact test, included presenting age, sex, presenting signs, lesion site, and radiographic, endoscopic, and histologic findings.. Results Seventeen patients with airway lesions were identified, 6 with VMs and 11 with IHs. Patients with VMs presented at a mean (SD) age of 11.3 (13.7) months (age range, 3–39 months), while those with IHs presented at 3 (1.8) months of age (age range, 1–6 months) (P =.03). The patients with IHs were predominantly female (9 of 11 [81%]), while no sex difference was noted among the patients with VMs (3 of 6 [50%]). All patients with IHs presented with stridor and cutaneous lesions, whereas patients with VMs more often presented with hemoptysis or dysphagia (P = .001). Computed tomographic angiograms demonstrated enhancing endolaryngeal lesions in all IHs, while VMs enhanced poorly. Endoscopically, IHs were transglottic, while VMs were postcricoid or epiglottic (P <.001). Histologically, immunostained lesions showed submucosal lobules of capillaries lined by GLUT-1 (glucose transporter isoform 1)–positive endothelium in IHs, whereas VMs consisted of loosely organized venous channels that lacked GLUT-1 staining. Conclusion Patients with airway IHs and VMs differ in presenting age and signs, sex, airway lesion location, enhancement on computed tomographic angiograms, and histologic appearance. PMID:21242531

  7. Infantile postoperative encephalopathy: perioperative factors as a cause for concern.

    PubMed

    McCann, Mary Ellen; Schouten, A N J; Dobija, Nicole; Munoz, Carlos; Stephenson, Lianne; Poussaint, Tina Y; Kalkman, C J; Hickey, Paul R; de Vries, Linda S; Tasker, Robert C

    2014-03-01

    We report on 6 infants who underwent elective surgery and developed postoperative encephalopathy, which had features most consistent with intraoperative cerebral hypoperfusion. All infants were <48 weeks' postmenstrual age and underwent procedures lasting 120 to 185 minutes. Intraoperative records revealed that most of the measured systolic blood pressure (SBP) values were <60 mm?Hg (the threshold for hypotension in awake infants according to the Pediatric Advanced Life Support guidelines) but that only 11% of the measured SBP values were <1 SD of the mean definition of hypotension (<45 mm?Hg) as reported in a survey of members of the Society for Pediatric Anesthesia in 2009. Four infants also exhibited prolonged periods of mild hypocapnia (<35 mm?Hg). One infant did not receive intraoperative dextrose. All infants developed new-onset seizures within 25 hours of administration of the anesthetic, with a predominant cerebral pathology of supratentorial watershed infarction in the border zone between the anterior, middle, and posterior cerebral arteries. Follow-up of these infants found that 1 died, 1 had profound developmental delays, 1 had minor motor delays, 2 were normal, and 1 was lost to follow-up. Although the precise cause of encephalopathy cannot be determined, it is important to consider the role that SBP hypotension (as well as hypoglycemia, hyperthermia, hyperoxia, and hypocapnia) plays during general anesthesia in young infants in the development of infantile postoperative encephalopathy. Our observations highlight the lack of evidence-based recommendations for the lower limits of adequate SBP and end-tidal carbon dioxide in anesthetized infants. PMID:24515520

  8. 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 ... that has shown promise in some studies. Other new drugs have different targets. For example, some new ...

  9. 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 in ... rates can be found in the section “ Survival statistics for mesothelioma .” Last Medical Review: 05/18/2015 ...

  10. 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

  11. 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

  12. [Anorectal malignant melanoma. Report of three cases].

    PubMed

    Jai, Saad Rifki; Adraoui, Jawad; Khaiz, Driss; Lakhloufi, Ali; Chehab, Farid; Bouzidi, Abdelmjid

    2005-07-01

    The authors report three cases of primary anorectal malignant melanoma in order to discuss the various diagnostic problems, therapeutic modalities and to remind of the prognostic factors of this rare and unknown affliction. The diagnosis is unfortunately realized in the advanced stage. Mrs B.O, 55 years old, presented rectal hemorrhages and false meeds since a year, the clinical examination showed rectal tumor that bleeds with touch. The mass has been biopsed during the rectoscopy and the diagnosis of the malignant melamoma has been confirmed. Abdominoperitoneal amputation had been realized. Mr F.K, 35 years old, hospitalized because of constipation and rectal hemorrhages that evolve since 7 months with loss of weight and alteration of the general state. The rectal touch emphasizes a budy rectal polypoid tumor about 6 cm that the biopsies confirmed the diagnosis of invasive malignant. A Hartman's operation has been realized. A resection of the tumoral bud has been realized 3 months later, the patient died 4 months after that. Mrs F.K, 50 years old, presented since 50 days relapsing rectorrhages. The rectal touch showed a rectal tumor far about 6 cm from the amal margin, the biopsy during the rectoscopy confirmed the diagnosis of the pigmented and little invasive malignant melanoma. The abdominal exhography showed hepatic metastases and a resection by endo-mal way in order to reduce the tumor has been realized. The inclusion of the primary anorectal malignant melanoma in the diagnosis of the afflictins of the anorectal region would permit an improvement of this affliction prognosis, this is still unfortunate when the diagnosis is late. Its treatment is still surgical, the role of the other therapies still needs to be defined. PMID:16220701

  13. Evaluation of the phenotype pattern of macrophages isolated from malignant and non-malignant pleural effusions

    Microsoft Academic Search

    Mariusz Kaczmarek; Agata Nowicka; Magdalena Koz?owska; Jakub ?urawski; Halina Batura-Gabryel; Jan Sikora

    Macrophages are among the infiltrate components of most malignant tumors. Tumor-associated macrophages (TAMs) may secrete\\u000a a variety of humoral factors, which promote or inhibit tumor growth. In general, depending on their activation pathway, macrophages\\u000a exhibit two different patterns of phenotype, M1 or M2. It is assumed that TAMs comprise pattern M2. In the malignant pleural\\u000a effusion, macrophages are a frequent

  14. Atypical skin graft-vs.-host disease following bone marrow transplantation in an infant.

    PubMed

    Kuskonmaz, B; Güçer, S; Boztepe, G; Cetin, M; Uckan, D

    2007-03-01

    Herein, we describe an unusual presentation of acute graft versus host disease (GVHD) mimicking contact dermatitis in an infant who underwent 5/6 HLA-matched bone marrow transplantation (BMT) from his mother for malignant infantile osteopetrosis. The initial rash on day +32 simulated diaper rash, which progressed to a belt-shaped rash and then developed hyperkeratotic nodules on the hands. The acute GVHD was atypical and the course was progressive and fatal, with liver and gut involvement. This presentation of atypical initial skin involvement of acute GVHD may be useful for practicing clinicians in the BMT field who need to be aware of the early unusual signs of acute GVHD so that they can initiate prompt treatment. PMID:17300504

  15. Malignant rhabdoid tumor arising from a pleomorphic adenoma

    Microsoft Academic Search

    Kar-Ming Fung; Eduardo M Diaz; Adel K El-Naggar; Mario A Luna

    2004-01-01

    Malignant transformation of pleomorphic adenomas often occurs in long-standing tumors or tumors with multiple local recurrences. The malignant component is usually a carcinoma. The case reported herein concerns a 60-year-old man who had a malignant rhabdoid tumor arising in a painless parotid mass that remained untreated for 25 years. Malignant rhabdoid tumors are clinically aggressive neoplasms with phenotypic features that

  16. Malignant giant cell tumor of the tendon sheaths and joints (malignant pigmented villonodular synovitis).

    PubMed

    Bertoni, F; Unni, K K; Beabout, J W; Sim, F H

    1997-02-01

    Malignant pigmented villonodular synovitis (PVNS) is a rare lesion whose existence may be debatable. We studied eight cases that we consider to be examples of malignant PVNS. The three male and five female patients were aged 12 to 79 years. The knee was involved in three cases; the ankle in two; and the cheek, dorsum of the foot, and thigh in one each. Four patients had swelling for 6 months to 17 years before presentation. Three cases of malignant PVNS were secondary, arising in patients in whom PVNS had been documented previously, and five cases were primary, with histologic features similar to those of the secondary ones. Important histologic features of malignancy were (a) a nodular, solid infiltrative pattern of the lesion; (b) large, plump, round or oval cells with deep eosino philic cytoplasm and indistinct borders; (c) large nuclei with prominent nucleoli; and (d) necrotic areas. Atypical mitoses were occasionally seen. Four patients died with pulmonary metastasis (two also had metastasis to inguinal lymph nodes). Four patients are alive from 3 1/2 to 5 years after the last surgical treatment. The malignant nature of this lesion, the histologic architecture similar to that of PVNS, and the fibrohistiocytic appearance of the cells suggest that malignant PVNS is an entity. PMID:9042281

  17. Lessons from next-generation sequencing analysis in hematological malignancies

    E-print Network

    Cai, Long

    OPEN REVIEW Lessons from next-generation sequencing analysis in hematological malignancies E in the study of hematological malignancies with a substantial number of publications and discoveries in the understanding of hematological malignancies derived through genome-wide sequence analysis. Blood Cancer Journal

  18. Pediatric related and unrelated cord blood transplantation for malignant diseases

    Microsoft Academic Search

    V Rocha; N Kabbara; I Ionescu; A Ruggeri; D Purtill; E Gluckman

    2009-01-01

    The use of umbilical or placental donor cord blood transplantation (CBT) in children with malignant and non-malignant diseases has witnessed important progress, mainly because of better cord blood donor choice and patient selection translating into better patient outcome. Approximately 2000 children with malignant diseases (about 75 % with acute leukemias) have been transplanted with a related (n=199) or unrelated CBT

  19. Malignant cylindroma in a patient with Brooke-Spiegler syndrome

    PubMed Central

    Borik, Liliane; Heller, Patricia; Shrivastava, Monica; Kazlouskaya, Viktoryia

    2015-01-01

    Malignant cylindroma (cylindromatous carcinoma, cylindrocarcinoma) is the malignant counterpart of benign cylindroma. It is a rare neoplasm, more often developing in the setting of multiple preexisting benign neoplasms. Herein we present an additional case of malignant transformation of the cylindroma diagnosed in an 83-year-old patient with known Brooke-Spiegler syndrome. PMID:26114054

  20. Computerderived Nuclear Features Distinguish Malignant from Benign Breast Cytology.

    E-print Network

    Street, Nick

    previously encountered. Materials and Methods Patients and Aspirate The benign and malignant cell samples1 Wolberg Computer­derived Nuclear Features Distinguish Malignant from Benign Breast Cytology features. These features are then tested to distinguish between benign and malignant breast cytology

  1. 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

  2. Electrochemotherapy with Cisplatin: Clinical Experience in Malignant Melanoma Patients1

    E-print Network

    Ljubljana, University of

    Electrochemotherapy with Cisplatin: Clinical Experience in Malignant Melanoma Patients1 Gregor cisplatin adminis- tration on cutaneous tumor nodules in malignant melanoma patients. In 10 patients, 133 that electrochemotherapy with cisplatin is a highly effective approach for treatment of cutaneous malignant melanoma

  3. HISTOLOGICAL ANALYSIS OF TESTES IN LOCALLY AND WHOLE BODY IRRADIATED INFANTILE RATS

    Microsoft Academic Search

    N. V. Savkovic; D. V. Radivojevic; S. I. Hajdukovic; M. M. Radotic; S. H. Popovic; J. Karanovic

    1961-01-01

    Histological changes of testes in locally and whole-body irradiated ; infantile rats untreated and treated with cysteamine are studied. The results ; show that the testes in fertile males have normal structure. However, in sterile ; animals the testes are destroyed in most cases. Giant cells in sterile and in ; some fertile animals are observed depending on whether they

  4. Laparoscopic pyloromyotomy for infantile hypertrophic pyloric stenosis: Report of 11 cases

    Microsoft Academic Search

    Kevin L. Greason; W. Raleigh Thompson; Earl C. Downey; Barry Lo Sasso

    1995-01-01

    Pyloromyotomy remains the standard of care for the treatment of infantile hypertrophic pyloric stenosis. Open pyloromyotomy is effective and is the gold-standard technique. The authors report on the technique of laparoscopic pyloromyotomy. The clinical courses of the first 11 infants treated with laparoscopic pyloromyotomy were compared with the courses of 14 infants treated recently with open pyloromyotomy. The average surgical

  5. Study of the interstitial cells of Cajal in infantile hypertrophic pyloric stenosis

    Microsoft Academic Search

    JM Vanderwinden; H Liu; MH De Laet; JJ Vanderhaeghen

    1996-01-01

    BACKGROUND & AIMS: The interstitial cells of Cajal form a network in close association with the smooth muscle of the gut. They are regarded as pacemaker cells and might be involved in motility disorders. Their distribution was studied in a common disorder with a dysfunction of the pyloric sphincter called infantile hypertrophic pyloric stenosis. METHODS: Specimens from 27 infants with

  6. Altered messenger RNA expression of the neuronal nitric oxide synthase gene in infantile hypertrophic pyloric stenosis

    Microsoft Academic Search

    T. Kusafuka; P. Puri

    1997-01-01

    Nitric oxide (NO) has been described as a mediator of smooth muscle relaxation in the mammalian gastrointestinal tract. The enzyme neuronal nitric oxide synthase (NOS) catalyzes the formation of NO. We examined the expression of the neuronal NOS gene at the messenger RNA (mRNA) level in pyloric smooth-muscle biopsy specimens from six patients with infantile hypertrophic pyloric stenosis (IHPS) using

  7. Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies.

    PubMed

    Heron, Sarah E; Ong, Yeh Sze; Yendle, Simone C; McMahon, Jacinta M; Berkovic, Samuel F; Scheffer, Ingrid E; Dibbens, Leanne M

    2013-05-01

    Heterozygous mutations in PRRT2 have recently been identified as the major cause of autosomal dominant benign familial infantile epilepsy (BFIE), infantile convulsions with choreoathetosis syndrome (ICCA), and paroxysmal kinesigenic dyskinesia (PKD). Homozygous mutations in PRRT2 have also been reported in two families with intellectual disability (ID) and seizures. Heterozygous mutations in the genes KCNQ2 and SCN2A cause the two other autosomal dominant seizure disorders of infancy: benign familial neonatal epilepsy and benign familial neonatal-infantile epilepsy. Mutations in KCNQ2 and SCN2A also contribute to severe infantile epileptic encephalopathies (IEEs) in which seizures and intellectual disability co-occur. We therefore hypothesized that PRRT2 mutations may also underlie cases of IEE. We examined PRRT2 for heterozygous, compound heterozygous or homozygous mutations to determine their frequency in causing epileptic encephalopathies (EEs). Two hundred twenty patients with EEs with onset by 2 years were phenotyped. An assay for the common PRRT2 c.649-650insC mutation and high resolution-melt analysis for mutations in the remaining exons of PRRT2 were performed. Neither the common mutation nor any other pathogenic variants in PRRT2 were detected in the 220 patients. Our findings suggest that mutations in PRRT2 are not a common cause of IEEs. PMID:23566103

  8. [Case report of skin manifestations in infantile Mediterranean kala-azar].

    PubMed

    Ayadi, A; Loukil, M; Lakhoua, R; Boubaker, S; Debbabi, A; Ben Rachid, S B; Jedidi, H

    1992-04-01

    The case of a 19-month-old girl with visceral leishmaniasis and unusual skin manifestations is reported. Emphasis is put on the fact that such manifestations are unusual in Mediterranean infantile leishmaniasis. The clinical features, parasitology, histology, and course of these skin lesions are discussed. PMID:1616241

  9. Glial filaments are a major brain fraction in infantile neuronal ceroid-lipofuscinosis

    Microsoft Academic Search

    A. Paetau; I. Elovaara; R. Paasivuo; I. Virtanen; J. Palo; M. Haltia

    1985-01-01

    Extremely severe gliosis develops at the end stage of infantile neuronal ceroid-lipofuscinosis (INCL), a fatal encephalopathy characterized by accumulation of autofluorescent storage material in the brain and other tissues followed by a terminal subtotal neuronal and myelin loss. A major fraction of highly enriched intermediate filaments was obtained with a density gradient centrifugation method from INCL brain tissue, whereas the

  10. 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

  11. The expression of late infantile neuronal ceroid lipofuscinosis (CLN2) gene product in human brains

    Microsoft Academic Search

    Akira Oka; Yukiko Kurachi; Masashi Mizuguchi; Masaharu Hayashi; Sachio Takashima

    1998-01-01

    We raised polyclonal antibodies against a gene product responsible for late infantile neuronal ceroid lipofuscinosis (CLN2). By Western blotting, all three antisera recognized the CLN2 protein at approximately 49 kDa in human brain homogenates. Immunohistochemistry using the antisera demonstrated the granular labelling in the cytoplasm of cerebral neurons and glial cells. The immunoreactivity on Western blots was absent from the

  12. Intraventricular Enzyme Replacement Improves Disease Phenotypes in a Mouse Model of Late Infantile Neuronal Ceroid Lipofuscinosis

    Microsoft Academic Search

    Michael Chang; Jonathan D Cooper; David E Sleat; Seng H Cheng; James C Dodge; Marco A Passini; Peter Lobel; Beverly L Davidson

    2008-01-01

    Late infantile neuronal ceroid lipofuscinosis (LINCL) is an autosomal recessive neurodegenerative disease caused by mutations in CLN2, which encodes the lysosomal protease tripeptidyl peptidase 1 (TPP1). LINCL is characterized clinically by progressive motor and cognitive decline, and premature death. Enzyme-replacement therapy (ERT) is currently available for lysosomal storage diseases affecting peripheral tissues, but has not been used in patients with

  13. 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…

  14. 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…

  15. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial

    E-print Network

    (individual 1-4) has developed neuro- logical symptoms and multiple brain lesions documented by MRIMPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic) DNA depletion syndromes (MDDS) are genetic disorders characterized by a severe, tissue-specific

  16. Axonal Neuropathy and Predominance of Type II Myofibers in Infantile Spinal Muscular Atrophy

    Microsoft Academic Search

    Heymut Omran; Uwe-Peter Ketelsen; Florian Heinen; Manfred Sauer; Sabine Rudnik-Schönebom; Brunhilde Wirth; Klaus Zerres; Wilfried Kratzer; Rudolf Korinthenberg

    1998-01-01

    Two affected siblings with infantile spinal muscular atrophy (SMA I) presented with generalized muscular hypotonia, which progressed to early death. Quadriceps muscle biopsy did not show the typical neurogenic pattern of spinal muscular atrophy. The histochemical fiber type determination revealed a predominance of type II fibers without type I hypertrophy, an unprecedented finding in spinal muscular atrophy. Sural nerve biopsy

  17. Muscle Biopsy and the Clinical Course of Infantile Spinal Muscular Atrophy

    Microsoft Academic Search

    Edwin L. Zalneraitis; John J. Halperin; Margaret L. Grunnet; Barry S. Russman; Nancy Peress

    1991-01-01

    Eight infants with severe early infantile spinal muscular atrophy diagnosed by clinical presentation and muscle biopsy were studied. The extent of alterations in muscle histology, histochemistry, and ultrastructure did not reflect the relative severity of the clinical presentation or the course of the illness. In seven biopsies, ultrastructural studies demonstrated empty sleeves of basal lamina projecting from the surface of

  18. 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

  19. DNA fragmentation and BCL2 expression in infantile spinal muscular atrophy

    Microsoft Academic Search

    D. S. Tews; H. H. Goebel

    1996-01-01

    Chromatin cleavage, a hallmark of apoptosis, was identified by in situ labeling in 55 ± 7% of the muscle fibers in infantile spinal muscular atrophy (ISMA) and, to a lesser extent, in peripheral neuropathy indicating that DNA fragmentation is not specific to ISMA but a common feature in defect innervation. However, as DNA breaks are also known as a temporary

  20. Violencia y prosocialidad en los contenidos televisivos infantiles visionados por menores

    E-print Network

    Escolano, Francisco

    Violencia y prosocialidad en los contenidos televisivos infantiles visionados por menores en no desaparecen. Los menores tienden a visionar más horas los programas de adultos que los específicamente. · La influencia en la conducta del niño es inversamente proporcional a la edad del mismo. Se aprecia

  1. Prediction of Early-Onset Esotropia From Components of the Infantile Squint Syndrome

    Microsoft Academic Search

    Clifton M. Schor; Robert E. Fusaro; Nance Wilson; Suzanne P. McKee

    Purpose. To examine the association between components of the infantile squint syndrome (ISS) and age of onset of esotropia among subjects in the Cooperative Amblyopia Classification Study (CACS). Methods. Fifty subjects were classified retrospectively as having early-onset esotropia (EOE) and 150 subjects were classified as having late-onset esotropia (LOE), depending on whether symptoms of (or treatment for) strabismus occurred before

  2. 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

  3. Infantile scoliosis in Beals syndrome: the use of a non-fusion technique for surgical correction

    Microsoft Academic Search

    Anthony Gwynne Martin; Pedro R. Foguet; David S. Marks; A. G. Thompson; A. H. Child

    2006-01-01

    Beals syndrome (congenital contractural arachnodactyl) is a genetic disorder of the connective tissue phenotypically related to Marfan syndrome. It is characterised by dolichostenomelia, arachnodactyly, multiple joint contractures, crumpled ears, hypoplastic muscles and scoliosis. The latter, the most important clinical feature of this rare condition, presents in the infantile and juvenile age group and has a tendency to rapid progression. Bracing

  4. The leukoencephalopathy of infantile GM1 gangliosidosis: oligodendrocytic loss and axonal dysfunction

    Microsoft Academic Search

    J. Patrick van der Voorn; Wout Kamphorst; Marjo S. van der Knaap; James M. Powers

    2004-01-01

    A myelin deficit in the cerebral white matter in infantile GM1 gangliosidosis is well established. Some have proposed this deficit to be secondary to axonal loss, while others argue for delayed or arrested myelination. We compared the frontal white and gray matter of two infants with GM1 gangliosidosis with four age-matched controls, using light microscopy with a quantitative analysis, immunohistochemistry,

  5. Infantile autism and childhood schizophrenia: Review of the issues from the sociocultural point of view

    Microsoft Academic Search

    Victor D. Sanua

    1983-01-01

    After presenting an historical overview of the development of the concept of childhood psychosis, this paper discusses the various etiologies which have been offered to explain severe disturbances of childhood. Reference is made to the nature\\/nurture polemic. In spite of the general belief that the etiology is biologically determined, particularly in infantile autism, the actual evidence tends to be meagre.

  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. 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

  8. 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

  9. 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

  10. Cultural Changes and Psychopathology in Children: With Special Reference to Infantile Autism. Draft.

    ERIC Educational Resources Information Center

    Sanua, Victor D.

    The paper analyzes research regarding the effects of sociocultural factors and the incidence of mental illness, particularly infantile autism and childhood schizophrenia. Among those topics reviewed are general sociocultural changes and vital statistics, perceptual and cognitive potential of the neonate, the importance of family networks for…

  11. Systemic malignancies presenting as primary osteolytic lesion.

    PubMed

    Sirelkhatim, A; Kaiserova, E; Kolenova, A; Puskacova, J; Subova, Z; Petrzalkova, D; Banikova, K; Suvada, J; Sejnova, D

    2009-01-01

    The tumor formation may be the earliest manifestation preceeding other symptoms, signs and bone marrow evidence of systemic malignancy - leukemia/lymphoma. Here we present three cases of systemic malignancy in which bone lesions were the first manifested signs of the disease. All three cases were thought to be orthopedic cases and had been treated as so without genuing improvement. We would like to draw an attention to children who present with multifocal musculoskeletal pain and the importance of whole-body scaning. We describe interesting cases of diffuse large cell lymphoma and leukemia that initially presented as primary osteolytic bone lesion and discuss the differential diagnosis, literature review of non-Hodgkin's lymphoma arising in bone as the primary site (Tab. 1, Fig. 3, Ref. 18). Full Text (Free, PDF) www.bmj.sk. PMID:20017455

  12. Malignant Sweat Gland Tumors: An Update.

    PubMed

    Brenn, Thomas

    2015-07-01

    Sweat gland carcinomas represent an important and somewhat contentious group of tumors in diagnostic skin pathology. Although their overall incidence is rare, they show a wide range of histologic features, and reliable classification is often challenging. Awareness and recognition of these tumors is, however, important as they may be associated with significant morbidity and even disease-related mortality, especially if left untreated. According to their behavior, sweat gland carcinomas are traditionally separated into tumors with low-grade and high-grade malignant behavior. This article is aimed at increasing awareness and providing an overview of malignant sweat gland tumors with emphasis on recently reported and novel findings and diagnostically challenging and potentially underrecognized entities. It further aims to illustrate the wide morphologic range of these tumors and provides a discussion of the relevant immunohistochemistry, disease-specific behavior, and differential diagnosis. PMID:26050261

  13. Malignant tumours of the kidney: imaging strategy

    PubMed Central

    de Kraker, Jan

    2010-01-01

    Primitive malignant renal tumours comprise 6% of all childhood cancers. Wilms tumour (WT) or nephroblastoma is the most frequent type accounting for more than 90%. Imaging alone cannot differentiate between these tumours with certainty but it plays an important role in screening, diagnostic workup, assessment of therapy response, preoperative evaluation and follow-up. The outcome of WT after therapy is excellent with an overall survival around 90%. In tumours such as those where the outcome is extremely good, focus can be shifted to a risk-based stratification to maintain excellent outcome in children with low risk tumours while improving quality of life and decreasing toxicity and costs. This review will discuss the imaging issues for WT from the European perspective and briefly discuss the characteristics of other malignant renal tumours occurring in children and new imaging techniques with potential in this matter. PMID:20432020

  14. Candida in potentially malignant oral disorders.

    PubMed

    Sankari, S Leena; Gayathri, K; Balachander, N; Malathi, L

    2015-04-01

    Oro-pharyngeal cancer is a significant component in the global burden of cancer. A considerable proportion of oral squamous carcinomas develop from preexsiting potentially malignant disorder of the oral cavity. The term potentially malignant oral disorders (PMD) were proposed for the precancerous lesions and conditions by World Health Organization in 2007. PMD are considered an in-between clinical state, which showed increased risk for cancer development. Etiology of PMD is multifactorial. Tobacco and alcohol are the major risk factors. In recent years, role of candidal infection is recognized as a significant factor in the development of PMD. There is an enduring discussion whether Candida infection can be a cause of PMD or a superimposed infection in a preexisting lesion. This article highlights the association between Candida and PMD. PMID:26015698

  15. Malignant tumours of the hand and wrist

    PubMed Central

    Thomas, Binu P; Sasi, Kiran; Pallapati, Samuel CR; Mathew, Anil; Sreekanth, R; Thomas, Meera

    2011-01-01

    Malignant tumours are rare in the hand and wrist. The clinical presentation may be similar to that of a benign lesion and a high index of suspicion is necessary so that such lesions are not missed by the treating surgeon. Out of a total of 657 tumours/tumour-like lesions of the hand and wrist seen in a tertiary referral centre in a 10-year period, a total of 39 tumours were identified as malignant (5.9%) and of which majority had origin from the skin (53.8%). The management of these tumours is primarily surgical. Limb salvage surgery may be applied when appropriate, though eradication of disease should be the primary goal rather than preservation of function. A multimodal approach is necessary for appropriate management including chemotherapy and radiotherapy. PMID:22022044

  16. Megakaryocytes, Malignancy and Bone Marrow Vascular Niches

    PubMed Central

    Psaila, Bethan; Lyden, David; Roberts, Irene

    2011-01-01

    Summary Dynamic interactions between haematopoietic cells and their specialised bone marrow microenvironments, namely the vascular and osteoblastic ‘niches’ regulate haematopoiesis. The vascular niche is conducive for thrombopoiesis, and megakaryocytes may, in turn, regulate the vascular niche, especially in supporting vascular and haematopoietic regeneration following irradiation or chemotherapy. A role for platelets in tumour growth and metastasis is well established and, more recently, the vascular niche has also been implicated as an area for preferential homing and engraftment of malignant cells. This article aims to provide an overview of the dynamic interactions between cellular and molecular components of the bone marrow vascular niche and the potential role of megakaryocytes in bone marrow malignancy. PMID:22122829

  17. Hand-assisted laparoscopy for pelvic malignancy.

    PubMed

    Pelosi, M A; Pelosi, M A; Eim, J

    2000-06-01

    The inability to palpate intra-abdominal organs is a barrier to the widespread utilization of laparoscopy in the management of pelvic malignancy. Hand-assisted laparoscopy permits the insertion of the hand into the abdomen through a glove-sized incision while preserving the pneumoperitoneum. This new modality preserves both the technical benefits of traditional manual assistance and the convalescent advantages of minimally invasive surgery. Our preliminary experience suggests that this approach is a feasible, safe, and expeditious access option that can effectively replace an extended open laparotomy incision or an excessively tedious laparoscopic exercise in the evaluation and management of pelvic malignancy. Moreover, oncologic surgeons, reluctant to relinquish the tactile advantages of open surgery, may find hand-assisted laparoscopy an appealing alternative. PMID:10883991

  18. The cutaneous manifestations of metastatic malignant melanoma.

    PubMed

    Reed, Kurtis B; Cook-Norris, Robert H; Brewer, Jerry D

    2012-03-01

    Cutaneous metastases are common sequelae of primary malignant melanoma. Because patients with melanoma are examined frequently after diagnosis, it is important that dermatologists are aware of the range of findings that may represent metastatic disease. Many case reports and a few retrospective series have been published detailing the wide variety of clinical presentations of cutaneous metastatic melanoma. This article reviews the various manifestations of metastatic melanoma of the skin and oral mucous membranes and summarizes treatment options for metastatic disease. PMID:22348556

  19. Tetanus immunity in patients with hematological malignancies

    Microsoft Academic Search

    V. Hamarström; K. Pauksen; H. Svensson; G. Öberg; C. Paul; P. Ljungman

    1998-01-01

    The aim of this study was to investigate long-term immunity to tetanus toxoid among patients with hematological disease who\\u000a had been treated with conventional doses of chemotherapy. Altogether 206 patients with different hematological malignancies\\u000a were included in the study. There were marked differences between the rates of seronegativity against tetanus, varying from\\u000a 20% to 70% in different groups of study

  20. Lympho-hemopoietic malignancies in India

    Microsoft Academic Search

    Manisha Bhutani; Amish Vora; Lalit Kumar; Vinod Kochupillai

    2002-01-01

    Available information on lympho-hemopoietic malignancies in India is presented. The incidence of most cancers, including multiple\\u000a myeloma, lymphomas, and leukemias, is lower compared to that in the West; chronic myelogenous leukemia, however, is higher\\u000a and the incidence of non-Hodgkin’s lymphoma (NHL) is rising. Most cancers occur at a younger age. Higher frequencies of mixed-cellularity\\u000a Hodgkin’s disease, diffuse large-cell NHL and

  1. Current therapies for malignant pleural mesothelioma

    Microsoft Academic Search

    Takashi Nakano

    2008-01-01

    Mesothelioma is a highly lethal tumor derived from mesothelial cells, and its global incidence is increasing because of widespread\\u000a exposure of numerous individuals to asbestos in the last 50 years. Mesothelioma is largely untreatable with any of the therapeutic\\u000a modalities. Recently, a novel multitargeted antifolate pemetrexed has shown promising activity against malignant pleural mesothelioma,\\u000a producing response rates of up to 40%

  2. 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

  3. Assessment of Heterogeneity in Malignant Brain Tumors

    Microsoft Academic Search

    Timothy E. Van Meter; Gary Tye; Catherine Dumur; William C. Broaddus

    \\u000a Primary malignant brain tumors are highly lethal cancers and vary in their histology, due to the many cell types in the brain\\u000a and also the multipotent cells of origin (Singh et al. 2003, 2004). The most notorious among these is glioblastoma multiforme\\u000a (GBM), the most aggressive glioma subtype, carrying the highest World Health Organization (WHO) grade of IV. As the

  4. 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. PMID:25914884

  5. Primary Malignant Melanoma in the Pineal Region

    PubMed Central

    Hong, Yong-Kil

    2014-01-01

    A 59-year-old male patient had 5-month history of gait disturbance and memory impairment. His initial brain computed tomography scan showed 3.5×2.8 cm sized mass with high density in the pineal region. The tumor was hypointense on T2 weighted magnetic resonance images and hyperintense on T1 weighted magnetic resonance images with heterogenous enhancement of central portion. The tumor was totally removed via the occipital transtentorial approach. Black mass was observed in the operation field, and after surgery, histopathological examination confirmed the diagnosis of malignant melanoma. Whole spine magnetic resonance images and whole body 18-fluoro-deoxyglucose positron emission tomography could not demonstrate the primary site of this melanoma. Scrupulous physical examination of his skin and mucosa was done and dark pigmented lesion on his left leg was found, but additional studies including magnetic resonance images and skin biopsy showed negative finding. As a result, final diagnosis of primary pineal malignant melanoma was made. He underwent treatment with the whole brain radiotherapy and extended local boost irradiation without chemotherapy. His preoperative symptoms were disappeared, and no other specific neurological deficits were founded. His follow-up image studies showed no recurrence or distant metastasis until 26 weeks after surgery. Primary pineal malignant melanomas are extremely rare intracranial tumors, and only 17 cases have been reported since 1899. The most recent case report showed favorable outcome by subtotal tumor resection followed by whole brain and extended local irradiation without chemotherapy. Our case is another result to prove that total tumor resection with radiotherapy can be the current optimal treatment for primary malignant melanoma in the pineal region. PMID:25628812

  6. Malignant tumours of the kidney: imaging strategy

    Microsoft Academic Search

    Anne M. Smets; Jan de Kraker

    2010-01-01

    Primitive malignant renal tumours comprise 6% of all childhood cancers. Wilms tumour (WT) or nephroblastoma is the most frequent\\u000a type accounting for more than 90%. Imaging alone cannot differentiate between these tumours with certainty but it plays an\\u000a important role in screening, diagnostic workup, assessment of therapy response, preoperative evaluation and follow-up. The\\u000a outcome of WT after therapy is excellent

  7. Malignant seminoma in two unilaterally cryptorchid stallions.

    PubMed

    De Lange, V; Chiers, K; Lefère, L; Cools, M; Ververs, C; Govaere, J

    2015-06-01

    Two unilateral cryptorchid stallions were referred to the clinic because of chronic debilitating condition with emaciation. Rectal examination, and ultrasound and gross examination revealed in both animals an abdominal mass, caudally of the kidney, and multiple nodules spread over the abdomen. Histologic analysis revealed an intra-abdominal malignant seminoma with intraperitoneal and renal metastasis. Interestingly, a seminoma was also present in the descended testis of the draught horse. PMID:25759202

  8. Malignant Rhabdoid Tumor of the Orbit

    Microsoft Academic Search

    Kaan Gunduz; Jerry A. Shields; Ralph C. Eagle; Carol L. Shields; Patrick De Potter; Lee Klombers

    36-month-old girl had a 3-week history of proptosis of the right eye. Computed to- mography showed an ill-defined homogeneous mass filling the intraconal space. His- topathologic examination and immunohistochemistry findings of an incisional bi- opsy specimen were consistent with malignant undifferentiated tumor with rhabdoid features. Despite chemotherapy (a combination of vincristine sulfate and dactinomycin) and ra- diotherapy, massive orbital recurrence

  9. Primary malignant rhabdoid tumor of the cerebellum

    Microsoft Academic Search

    Juan F. Martínez-Lage; Andrés Nieto; Joaquín Sola; Rosario Domingo; Trinidad R. Costa; Máximo Poza

    1997-01-01

    Malignant rhabdoid tumor (MRT) is a recently described variety of childhood renal neoplasm. MRT arising primarily in the\\u000a central nervous system (CNS) is still a rather unfamiliar pathological entity and is frequently misdiagnosed as medulloblastoma\\u000a or primitive neuroectodermal tumor (PNET). We describe a 7-month-old boy who harbored a CNS-MRT that originated within the\\u000a IV ventricle and invaded the brain stem

  10. Malignancy Risk Models for Oral Lesions

    PubMed Central

    Zarate, Ana M.; Brezzo, María M.; Secchi, Dante G.; Barra, José L.

    2013-01-01

    Objectives: The aim of this work was to assess risk habits, clinical and cellular phenotypes and TP53 DNA changes in oral mucosa samples from patients with Oral Potentially Malignant Disorders (OPMD), in order to create models that enable genotypic and phenotypic patterns to be obtained that determine the risk of lesions becoming malignant. Study Design: Clinical phenotypes, family history of cancer and risk habits were collected in clinical histories. TP53 gene mutation and morphometric-morphological features were studied, and multivariate models were applied. Three groups were estabished: a) oral cancer (OC) group (n=10), b) OPMD group (n=10), and c) control group (n=8). Results: An average of 50% of patients with malignancy were found to have smoking and drinking habits. A high percentage of TP53 mutations were observed in OC (30%) and OPMD (average 20%) lesions (p=0.000). The majority of these mutations were GC ? TA transversion mutations (60%). However, patients with OC presented mutations in all the exons and introns studied. Highest diagnostic accuracy (p=0.0001) was observed when incorporating alcohol and tobacco habits variables with TP53 mutations. Conclusions: Our results prove to be statistically reliable, with parameter estimates that are nearly unbiased even for small sample sizes. Models 2 and 3 were the most accurate for assessing the risk of an OPMD becoming cancerous. However, in a public health context, model 3 is the most recommended because the characteristics considered are easier and less costly to evaluate. Key words:TP53, oral potentially malignant disorders, risk factors, genotype, phenotype. PMID:23722122

  11. Malignant spiradenoma/cylindroma of the vulva.

    PubMed

    Emam, Eman E; Sawan, Ali S; Al-Tamimi, Soha R; Molah, Rihab M

    2012-11-01

    Malignant spiradenoma/cylindroma of the vulva is an extremely rare adnexal tumor. We report the clinicopathological features of a 58-year-old woman who presented with malignant spiradenoma/cylindroma originating in the vulva and metastasized to the inguinal lymph nodes. Surgical excision with adequate margins and lymph node dissection was performed. Sections from the case were stained with Periodic Acid Schiff stain before and after diastase. Immunohistochemical study of the case using antibodies to carcinoembryonic antigen (CEA), epithelial membrane antigen (EMA), cytokeratin5/6 (CK 5/6), p63, cytokeratin7 (CK 7), smooth muscle actin (SMA), and S100 were performed. Microscopic examination revealed that spiradenoma nodules were positive to EMA and CEA. However, the cylindroma lobules showed strong immunoreactivity to p63 and CK5/6, whereas both tumor components were negative to S100, SMA, and CK7. Malignant spiradenoma/cylindroma is a rare tumor with controversial histogenesis that should be considered in the differential diagnosis of primary adnexal carcinoma and secondary metastatic tumors in the vulva. Further studies on a wider cohort should be encouraged. PMID:23147883

  12. 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. PMID:25774194

  13. 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.

  14. Diagnosis and treatment of malignant pleural mesothelioma.

    PubMed

    Rodríguez Panadero, Francisco

    2015-04-01

    There are three major challenges in the diagnosis of malignant pleural mesothelioma: mesothelioma must be distinguished from benign mesothelial hyperplasia; malignant mesothelioma (and its subtypes) must be distinguished from metastatic carcinoma; and invasion of structures adjacent to the pleura must be demonstrated. The basis for clarifying the first two aspects is determination of a panel of monoclonal antibodies with appropriate immunohistochemical evaluation performed by highly qualified experts. Clarification of the third aspect requires sufficiently abundant, deep biopsy material, for which thoracoscopy is the technique of choice. Video-assisted needle biopsy with real-time imaging can be of great assistance when there is diffuse nodal thickening and scant or absent effusion. Given the difficulties of reaching an early diagnosis, cure is not generally achieved with radical surgery (pleuropneumonectomy), so liberation of the tumor mass with pleurectomy/decortication combined with chemo- or radiation therapy (multimodal treatment) has been gaining followers in recent years. In cases in which surgery is not feasible, chemotherapy (a combination of pemetrexed and platinum-derived compounds, in most cases) with pleurodesis or a tunneled pleural drainage catheter, if control of pleural effusion is required, can be considered. Radiation therapy is reserved for treatment of pain associated with infiltration of the chest wall or any other neighboring structure. In any case, comprehensive support treatment for pain control in specialist units is essential: this acquires particular significance in this type of malignancy. PMID:25059587

  15. Fluorescence Spectroscopy of Human Nonmalignant and Malignant Cells and Tissues.

    NASA Astrophysics Data System (ADS)

    Glassman, Wenling Sha

    This thesis explores steady state and time resolved fluorescence spectroscopy from human malignant and non -malignant cells and tissues. The focus of these studies are the analysis of the excitation spectra, emission spectra, and decay time based on the contribution from several key intrinsic fluorophors: NAD(P)H, flavins, tryptophan, elastin and collagen that exist in different amounts in the human tissues and cells. The comparison between the spectra from malignant and non-malignant cells and tissues gives information on the changes that occur from non-malignancy to malignancy in the cells and tissues. The spectra of tissues and cells are also compared to help in understanding what fluorophors are responsible for fluorescence spectral differences between the malignant and non-malignant tissues and cells. The results in this thesis show that the spectral differences between the normal and cancerous tissues and cells exist in various wavelength ranges. The experimental data from GYN tissues have shown with over 95% of the sensitivity and specificity to separate malignant from non-malignant tissues using 300nm excitation. The 340nm band, which is mostly in response to intrinsic fluorophor (amino acid tryptophan), from malignant tissues were relatively higher then that from the non-malignant tissues. This might have been caused by the higher concentration of free tryptophan in the malignant tumor when compared to that of the normal tissue. This has been found in medical clinical study. The experimental data in this thesis also show that the fluorescence intensities around 450nm-460nm, which are mostly due to the intrinsic fluorophor coenzyme NADH, from both malignant cells in vitro and tissues in vitro are relatively higher than from non-malignant cells in vitro and tissues in vitro. These findings are reinforced by the faster decay time of the NADH fluorescence from normal cells in vitro than from neoplasm cells in vitro. Thus, the NADH in the mitochondria might be bound less tight in the malignant cells then that in the non-malignant cells because of metabolism changes from non-malignance to malignance. This thesis contributes to the new field of "mediphotonics" in life science.

  16. Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): Evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes

    SciTech Connect

    Williams, R.; McKay, T.; Mitchison, H.; Gardiner, M. (Univ. College of London Medical School (United Kingdom)); Vesa, J.; Jaervelae, I.; Hellsten, E.; Peltonen, L.; Thompson, A.; Callen, D.; Sutherland, G.; Luna-Battadano, D.; Stallings, R.

    1993-10-01

    The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigment in neurons and other cell types. Inheritance is autosomal recessive. Three main childhood subtypes are recognized: Infantile (Haltia-Santavuori disease; MIM 256743), late infantile (Jansky-Bielschowsky disease; MIM 204500), and juvenile (Spielmeyer-Sjoegren-Vogt, or Batten disease; MIM 204200). The gene loci for the juvenile (CLN3) and infantile (CLN1) types have been mapped to human chromosomes 16p and 1p, respectively, by linkage analysis. Linkage analysis of 25 families segregating for late-infantile NCL has excluded these regions as the site of this disease locus (CLN2). The three childhood subtypes of NCL therefore arise from mutations at distinct loci. 17 refs., 2 figs., 3 tabs.

  17. Laparoscopic Liver Resection for Malignant Liver Tumors

    PubMed Central

    Gigot, Jean-François; Glineur, David; Santiago Azagra, Juan; Goergen, Martine; Ceuterick, Marc; Morino, Mario; Etienne, José; Marescaux, Jacques; Mutter, Didier; van Krunckelsven, Ludo; Descottes, Bernard; Valleix, Dominique; Lachachi, François; Bertrand, Claude; Mansvelt, Baudouin; Hubens, Guy; Saey, Jean-Pierre; Schockmel, Romain

    2002-01-01

    Objective To assess the feasibility, safety, and outcome of laparoscopic liver resection for malignant liver tumors. Summary Background Data The precise role of laparoscopy in resection of liver malignancies (hepatocellular carcinoma [HCC] and liver metastases) remains controversial despite an increasing number of publications reporting laparoscopic resection of benign liver tumors. Methods A retrospective study was performed in 11 surgical centers in Europe regarding their experience with laparoscopic resection of liver malignancies. Detailed questionnaires were sent to each surgeon focusing on patient characteristics, clinical data, type and characteristics of the tumor, technical details of the operation, and early and late clinical outcome. All patients had radiologic investigations at follow-up to exclude disease recurrence. Results From February 1994 to December 2000, 37 patients with malignant liver tumors were included in this study. Ten patients had HCC, including 9 with cirrhotic liver, and 27 patients had liver metastases. The mean tumor size was 3.3 cm, and 89% of the tumors were located in the left lobe or in the anterior segments of the right liver. Liver procedures included 12 wedge resections, 9 segmentectomies, 14 bisegmentectomies (including 13 left lateral segmentectomies), and 2 major hepatectomies. The transfusion rate, the use of pedicular clamping, the conversion rate (13.5% in the whole series), and the complication rate were significantly greater in patients with HCC. There were no deaths. Postoperative complications occurred in eight patients (22%). The surgical margin was less than 1 cm in 30% of the patients. During a mean follow-up of 14 months, the 2-year disease-free survival was 44% for patients with HCC and 53% for patients having hepatic metastases from colorectal cancer. No port-site metastases were observed during follow-up. Conclusions In patients with small malignant tumors, located in the left lateral segments or in the anterior segments of the right liver, laparoscopic resection is feasible and safe. The complication rate is low, except in patients with HCC on cirrhotic liver. By using laparoscopic ultrasound, a 1-cm free surgical margin should be routinely obtained. The late outcome needs to be evaluated in expert centers. PMID:12131090

  18. 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.

  19. 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

  20. Infantile fibrosarcoma-a clinical and histologic mimicker of vascular malformations: case report and review of the literature.

    PubMed

    Hu, Zhihong; Chou, Pauline M; Jennings, Lawrence J; Arva, Nicoleta C

    2013-01-01

    Infantile fibrosarcoma is a rare soft tissue tumor that usually presents either at birth or in the 1st year of life. Here we describe a case of a 4-month-old female who presented with a congenital right axillary mass. The initial clinical impression was benign vascular/lymphatic malformation. The core biopsy showed a spindle cell lesion with abundant vasculature represented by small vascular channels. However, immunohistochemical analysis did not support a diagnosis of vascular lesion/tumor. Polymerase chain reaction study for ETS Translocation Variant 6/neurotrophic tyrosine kinase receptor, type 3 fusion transcript was positive, and the diagnosis of infantile fibrosarcoma was established. The patient underwent resection of the axillary mass. Microscopic examination of the resection specimen showed numerous vascular channels. Intermixed there were also cellular areas composed of spindle cells similar to those seen in the biopsy material. Molecular studies were repeated and confirmed the diagnosis of infantile fibrosarcoma. Infantile fibrosarcoma has been previously reported in the literature to clinically masquerade as hemangioma. In addition, this case proves that infantile fibrosarcoma could also mimic vascular malformations on clinical, radiologic, and pathologic exams. In fact, the vascular component of the tumor is very unusual in our patient and represents a histologic feature that has not been described before. The case highlights the diagnostic challenges at clinical, radiologic, and pathologic levels in some cases of infantile fibrosarcoma and raises awareness among clinicians and pathologists related to another peculiar pattern that can be encountered in this disease. PMID:23718697

  1. 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

  2. Do thymic malignancies respond to target therapies?

    PubMed

    Hu, Bin; Rong, Hao; Han, Yongtao; Li, Qiang

    2015-06-01

    A best evidence topic in cardiothoracic surgery was written according to a structured protocol. The question addressed was 'Do thymic malignancies respond to target therapies?' Altogether, 347 papers were found using the reported search, of which, in our opinion, 16 papers represented the best evidence to answer the clinical question. The authors, journal, date and country of publication, patient group studied, study type, relevant outcomes and results of these papers were tabulated. We did not find any randomized controlled trials on target therapies for the thymic malignancies, due to the very small incidence of this tumour, and it seems unlikely that there will be any such trials in the foreseeable future. Three studies on target therapies showed that several cases of thymic malignancies were reported to have partial response (PR) to epidermal growth factor receptor tyrosine kinase inhibitors such as cetuximab and erlotinib, whereas, one study on erlotinib and another on gefitinib showed no activity. Proto-oncogene c-KIT (KIT) mutant thymic carcinomas were noted to benefit from target therapies, implying that systematic sequencing of KIT in thymic carcinoma tumours may be warranted for optimal patient selection. A study that investigated the efficacy of cixutumumab, a fully human IgG1 monoclonal antibody that binds to insulin-like growth factor 1 receptor, indicated that relapsed thymomas tended to respond, whereas thymic carcinoma did not. The antiangiogenesis agent belinostat had modest antitumour activity in heavily pretreated thymoma, but no response to thymic carcinoma was found. Several cases with metastatic thymic carcinoma showed that multitargeted kinase inhibitors, such as sunitinib and sorafenib, were effective. We concluded that, as the side-effects of the agents were tolerable in almost all reported cases, target therapies can be an option for patients with heavily pretreated thymoma. PMID:25754373

  3. Cholesterol granuloma of the breast mimicking malignancy.

    PubMed

    Khan, Roobina; Narula, Varsha; Jain, Anshu; Maheshwari, Veena

    2013-01-01

    Cholesterol granuloma of the breast is an unusual non-neoplastic condition which frequently resembles malignancy clinically as well as radiologically. We herein report a case of a 28-year-old woman who presented with a lump in the upper outer quadrant of right breast. Physical examination and ultrasonography strongly suggested a carcinomatous lesion, but histopathological examination confirmed the diagnosis to be cholestrol granulomas. This article highlights the perplexing clinical presentation of cholesterol granulomas and affirms the role of histopathological examination in diagnosing these lesions correctly. PMID:23925685

  4. Neuroleptic malignant syndrome: A diagnostic challenge

    PubMed Central

    Ambulkar, Reshma P; Patil, Vijaya P; Moiyadi, Aliasgar V

    2012-01-01

    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

  5. 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

  6. Mediastinal gossypiboma simulating a malignant tumour.

    PubMed

    Nemati, Mohammad Hassan

    2012-10-01

    Gossypiboma or textiloma are two terms used to describe any cotton matrix such as gauze pads left behind during an operation in the body cavities. They may lead to infections or abscess formations, or may mimic malignant tumours. Here, we present a woman with a history of a previous operation on her thorax who became symptomatic 25 years after the operation because of retained surgical gauzes covered by fibrinous materials with adhesions to the left lung. The cotton matrix had developed into a gossypiboma mimicking a mediastinal tumour. PMID:22786789

  7. Mediastinal gossypiboma simulating a malignant tumour

    PubMed Central

    Nemati, Mohammad Hassan

    2012-01-01

    Gossypiboma or textiloma are two terms used to describe any cotton matrix such as gauze pads left behind during an operation in the body cavities. They may lead to infections or abscess formations, or may mimic malignant tumours. Here, we present a woman with a history of a previous operation on her thorax who became symptomatic 25 years after the operation because of retained surgical gauzes covered by fibrinous materials with adhesions to the left lung. The cotton matrix had developed into a gossypiboma mimicking a mediastinal tumour. PMID:22786789

  8. Non-asbestos-related malignant pleural mesothelioma.

    PubMed

    Kanbay, Asiye; Ozer Simsek, Zuhal; Tutar, Nuri; Y?lmaz, Insu; Buyukoglan, Hakan; Canoz, Ozlem; Demir, Ramazan

    2014-01-01

    Malignant pleural mesothelioma (MPM) is an uncommon tumor derived from mesothelial lining cells. MPM has been described as an insidious neoplasm because of its long latency period. The tumor is typically found in patients several decades after asbestos exposure. We herein describe a 26-year-old patient with MPM who presented with pleural effusion. The patient had not been exposed to asbestos or erionite. There are few case reports of non-asbestos-related MPM in young patients. We report this case to remind physicians to consider MPM in the differential diagnosis of pleural effusion in young patients without exposure to asbestos or erionitis. PMID:25175133

  9. Tyrosine kinase gene rearrangements in epithelial malignancies

    PubMed Central

    Shaw, Alice T.; Hsu, Peggy P.; Awad, Mark M.; Engelman, Jeffrey A.

    2014-01-01

    Chromosomal rearrangements that lead to oncogenic kinase activation are observed in many epithelial cancers. These cancers express activated fusion kinases that drive the initiation and progression of malignancy, and often have a considerable response to small-molecule kinase inhibitors, which validates these fusion kinases as ‘druggable’ targets. In this Review, we examine the aetiologic, pathogenic and clinical features that are associated with cancers harbouring oncogenic fusion kinases, including anaplastic lymphoma kinase (ALK), ROS1 and RET. We discuss the clinical outcomes with targeted therapies and explore strategies to discover additional kinases that are activated by chromosomal rearrangements in solid tumours. PMID:24132104

  10. Prognostic factors in malignant pleural mesothelioma.

    PubMed

    Davidson, Ben

    2015-06-01

    Malignant pleural mesothelioma (MPM) is a clinically aggressive tumor originating from mesothelial cells, which line the serosal cavities. Recent years have seen extensive research aimed at identifying new therapeutic targets, predictive markers and prognostic factors in this disease. These include both serum and tissue markers, and are related to multiple cellular pathways which affect cell survival, proliferation, apoptosis, angiogenesis, interaction with the immune response and DNA repair. Several of these molecules may become relevant for pathologists as part of the effort to select patient sub-populations for targeted therapy in the future. This review summarizes current data in this area and discusses their potential clinical relevance. PMID:25824607

  11. Diffuse Interstitial Pulmonary Infiltrates in Malignant Melanoma.

    PubMed

    Bräunlich, Jens; Seyfarth, Hans-Jürgen; Frille, Armin; Wirtz, Hubert

    2015-07-01

    Only a few cases of sarcoidosis-like reaction to a pharmacologic compound have been reported in patients with melanoma in the literature. Long-term treatment with interferon alpha may be assumed. We report a case of a 25-y-old man who presented to our department with diffuse interstitial pulmonary infiltrates and slightly enlarged mediastinal lymph nodes as determined by computed tomography. He had a history of malignant melanoma with 18 months of interferon alpha-2 therapy. Histological analysis of a transbronchial biopsy revealed sarcoidosis-like reactions. PMID:25587168

  12. Malignant Rhabdoid Tumors of the CNS

    Microsoft Academic Search

    Michael R. Carter

    \\u000a Rhabdoid tumors are a group of rare and highly aggressive neoplasms occurring at almost any anatomical location and presenting\\u000a predominantly in early childhood [15].\\u000a \\u000a \\u000a Malignant rhabdoid tumors (MRT) were first described in the kidney and were thought to represent a sarcomatous variant of\\u000a Wilms' tumor [3]. Similar tumors were subsequently identified at numerous extra-renal locations, including the CNS, which\\u000a remains

  13. Pleurodesis outcome in malignant pleural mesothelioma.

    PubMed

    Fysh, Edward Thomas Hamilton; Tan, Sze Khen; Read, Catherine Ann; Lee, Felicity; McKenzie, Kate; Olsen, Nola; Weerasena, Indunil; Threlfall, Timothy; de Klerk, Nicholas; Musk, A William; Lee, Y C Gary

    2013-06-01

    Few data exist on the pleurodesis outcome in patients with malignant pleural mesothelioma (MPM). A retrospective review of the Western Australian Mesothelioma Registry over 5 years revealed 390 evaluable patients. Only a subset of patients (42.3%) underwent pleurodesis, surgically (n=78) or by bedside instillation of sclerosants (n=87). Surgical pleurodesis showed no advantages over bedside pleurodesis in efficacy (32% vs 31% failures requiring further drainage, p=0.98), patient survival (p=0.52) or total time spent in hospital from procedure till death (p=0.36). No clinical, biochemical or radiographic parameters tested adequately predict pleurodesis outcome. PMID:23299964

  14. 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.

  15. [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

  16. Primary malignant melanoma of the cervix: report of a case

    Microsoft Academic Search

    Gülseren Yücesoy; Evrim Kus; Yigit Cakiroglu; Bahar Muezzinoglu; Kursat Yildiz; Izzet Yucesoy

    2009-01-01

    Background  To present a case of primary malignant melanoma of the cervix.\\u000a \\u000a \\u000a \\u000a Case   The patient was admitted with the complaint of vaginal bleeding. Gynecological examination revealed a dark, papillary mass\\u000a on the posterior lip of the cervix. Histopathology showed a malignant neoplasm with increased vascularity, indicating the\\u000a possibility of a primary uterine cervical melanoma. Diagnosis of malignant melanoma was confirmed with

  17. Bladder-Sparing Surgery in Locally Advanced Nonurological Pelvic Malignancy

    Microsoft Academic Search

    G. Siva Prasad; K. N. Chacko; D. Antony; G. Lionel; N. S. Kekre; G. Gopalakrishnan

    2006-01-01

    Introduction: The urinary bladder is commonly involved in pelvic malignancy. The incidence of apparent extension into adjacent organs in locally advanced colorectal malignancy is 5–12%. It is not known with other pelvic malignancy. No guidelines are available for its management. Often a dilemma exists between cystectomy and a bladder-sparing procedure. We studied the validity of bladder-sparing surgery (BSS) in locally

  18. Jejunal intussusception due to malignant phyllodes tumor of the breast.

    PubMed

    Bilen, Mehmet Asim; Laucirica, Rodolfo; Rimawi, Mothaffar F; Nangia, Julie R; Cyprus, Gerald S

    2012-06-01

    Phyllodes tumors are rare fibroepithelial neoplasms of the breast; classified as benign, borderline, or malignant based on the mitotic activity, cellular atypia, and stromal overgrowth. Wide surgical excision is the treatment of choice. The most common locations for metastasis are lung, bone, and liver; small intestinal metastasis is extremely rare. Here we present the first patient with jejunal metastases and intussusception due to malignant phyllodes tumor of the breast. Adjuvant treatment of malignant phyllodes tumor needs to be investigated. PMID:22381472

  19. 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

  20. Treatment of complex infantile haemangioma in a resource-poor setting.

    PubMed

    Natawidjaja, Ronald; Wang, Ewen

    2014-01-01

    Infantile haemangiomas affect approximately 5% of the population and usually do not require treatment. However, complex cutaneous haemangiomas can cause disabling disfigurement, while haemangiomas in the brain, airway or gastrointestinal tract can cause life-threatening complications. Although children with infantile haemangiomas are often first brought to general practitioners and paediatricians by parents for care, they are thought of as a surgical problem and usually referred to specialty care. We present a case of an infant from a resource-poor setting in rural Indonesia with disfiguring facial haemangiomas, as well as a probable airway haemangioma causing stridor at rest. The infant was treated with oral propranolol with marked involution of the cutaneous haemangioma, resolution of stridor and increase in weight. PMID:25053694

  1. Hepatocellular carcinoma and other hepatic malignancies: MR imaging.

    PubMed

    Roth, Christopher G; Mitchell, Donald G

    2014-07-01

    Magnetic resonance (MR) imaging surpasses all other imaging modalities in characterizing liver lesions by virtue of the exquisite tissue contrast, specificity for various tissue types, and extreme sensitivity to contrast enhancement. In addition to differentiating benign from malignant lesions, MR imaging generally discriminates between the various malignant liver lesions. Hepatocellular carcinoma constitutes most primary malignant liver lesions and usually arises in the setting of cirrhosis. Intrahepatic cholangiocarcinoma is a distant second and features distinctly different imaging features. Overall, metastases are the most common malignant liver lesions and arise from several primary neoplasms; most commonly gastrointestinal, lung, breast, and genitourinary. PMID:24889167

  2. Ultrasound of malignant cervical lymph nodes

    PubMed Central

    Ying, M.; Ho, S.Y.; Antonio, G.; Lee, Y.P.; King, A.D.; Wong, K.T.

    2008-01-01

    Abstract Malignant lymph nodes in the neck include metastases and lymphoma. Cervical nodal metastases are common in patients with head and neck cancers, and their assessment is important as it affects treatment planning and prognosis. Neck nodes are also a common site of lymphomatous involvement and an accurate diagnosis is essential as its treatment differs from other causes of neck lymphadenopathy. On ultrasound, grey scale sonography helps to evaluate nodal morphology, whilst power Doppler sonography is used to assess the vascular pattern. Grey scale sonographic features that help to identify metastatic and lymphomatous lymph nodes include size, shape and internal architecture (loss of hilar architecture, presence of intranodal necrosis and calcification). Soft tissue oedema and nodal matting are additional grey scale features seen in tuberculous nodes or in nodes that have been previously irradiated. Power Doppler sonography evaluates the vascular pattern of nodes and helps to identify the malignant nodes. In addition, serial monitoring of nodal size and vascularity are useful features in the assessment of treatment response. PMID:18390388

  3. Malignant mixed mullerian tumor: an immunohistochemical study.

    PubMed

    Bing, Zhanyong; Pasha, Theresa; Wang, Li-Ping; Zhang, Paul J

    2012-01-01

    Malignant mixed Mullerian tumor (MMMT) is an uncommon aggressive neoplasm composed of both malignant epithelial and mesenchymal components. In this study, immunohistochemical stains of germ cell markers, including SALL4, OCT3/4, glypican-3, and alpha-fetal protein (AFP), and CDX2 were performed in a series of MMMTs. SALL4 nuclear immunoreactivity was detected in 6 out of 19 cases (33%). The staining extent ranged from focal to extensive. The staining intensity was usually intermediate to strong (the score ranged from 1.5 to 3, and average score was 2.3 ± 0.5 in the positive cases). In addition, glypican-3 cytoplasmic reactivity was detected in 14 out of 16 cases (88%) with a mean score of 1.8 ± 0.7 (score ranging from 1 to 3). In contrast, OCT3/4 was only positive in 1 out of 19 cases and AFP in 2 out of 18 cases (11%). In summary, SALL4 and glypican-3 were frequently expressed in a subset of MMMTs. Their roles in the pathogenesis and biology of MMMT are yet to be determined. MMMT should be included in the differential diagnosis when a tumor is positive for SALL4 and/or glypican-3. PMID:22848863

  4. 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

  5. The molecular basis of myeloid malignancies.

    PubMed

    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

  6. 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

  7. Pathways of lymphatic spread in gynecologic malignancies.

    PubMed

    Paño, Blanca; Sebastià, Carmen; Ripoll, Enric; Paredes, Pilar; Salvador, Rafael; Buñesch, Laura; Nicolau, Carlos

    2015-01-01

    Precise radiologic evaluation of regional adenopathic involvement in pelvic gynecologic tumors is fundamental to clinical practice because of its prognostic and therapeutic significance. Likewise, the identification of metastatic adenopathies at posttreatment imaging is essential for assessing response and detecting recurrence. Similar to urologic neoplasms, gynecologic neoplasms most often spread regionally to the pelvic and retroperitoneal lymph nodes, following the normal drainage pathways of the pelvic organs. Familiarity with routes of dissemination, treatment options, and means of analyzing lymph node characteristics is crucial to determine the extent of disease. Two staging systems can be used in characterizing gynecologic malignancies: the FIGO (International Federation of Gynecology and Obstetrics) system, which is the most commonly and universally used, and the TNM (tumor, node, metastasis) system, which is based on clinical and/or pathologic classification. Anatomic assessment with multidetector computed tomography (CT) and magnetic resonance (MR) imaging is still the most commonly used technique for the detection of lymph node spread, which is mainly based on morphologic criteria, the most important of which is nodal size. However, size has limited diagnostic specificity. Consequently, functional imaging techniques such as diffusion-weighted MR imaging, positron emission tomography combined with CT, lymphoscintigraphy, and sentinel lymph node mapping, which are based on molecular and physiologic activity and allow more precise evaluation, are often incorporated into diagnostic imaging protocols for staging of gynecologic malignancies. (©)RSNA, 2015. PMID:25969940

  8. [Surgical management of cutaneous malignant melanoma. Review].

    PubMed

    Lavie, A; Desouches, C; Casanova, D; Bardot, J; Grob, J-J; Legré, R; Magalon, G

    2007-02-01

    Nowadays managing a cutaneous malignant melanoma can concern different kind of physicians: dermatologists, general or plastic surgeons The primary surgical procedure is a major step of the treatment. Biopsy must be total to properly determine the thickness of the tumor in case of malignancy. Wide local excision of the scar is often necessary to decrease the local and general recurrence rates. Wide local excision must be performed conforming to its own surgical rules. Managing tumor located on the face or limb extremities is a matter of plastic surgery. Sentinel node biopsy has succeeded to elective lymph node dissection. This procedure allows research of lymphatic spreading of the disease. Practice of sentinel node biopsy must be achieved in a protocolar way. Topography of the lesion can modified achievement and results of this procedure. Prognosis benefit of sentinel biopsy is now clear. Elective lymph node dissection is only performed in case of invaded sentinel node or clinically invaded lymph nodes. Local or locoregional recurrences mainly respond to surgical treatment using wide excision. However, alternative solutions are being evaluated (isolated limb perfusion). PMID:17030081

  9. Skin malignancy and the reconstructive plastic surgeon.

    PubMed Central

    Griffiths, R. W.

    1989-01-01

    Skin malignancy represents at least 25% of the plastic surgeon's workload. The commonest tumour, the basal cell carcinoma, usually arises in the skin of elderly patients who are frequently managed by surgery under local anaesthetic, often as outpatients. The recurrent basal cell carcinoma poses a difficult problem regardless of the primary therapy. Skin repair with direct closure or skin grafts is usually simple, but skin flaps will be needed when bone, cartilage or major neurovascular structures are exposed, or where tissue vascularity has been reduced by irradiation fibrosis. Squamous cell carcinomas of lip, ear and hand may recur as lymph node metastases despite clinical and histological clearance. Malignant melanoma continues to present as advanced disease (thick tumours) in this country, and this largely dictates prognosis, since tumour thickness is recognised as the single most important dominant prognostic variable. Incisional biopsy compromises histological microstaging and should be avoided. Indirect evidence from narrow margin excision of invasive head and neck cutaneous melanomas suggests no detriment, and narrow margin excision of melanomas is increasingly being practised. Images fig. 1 fig. 2 fig. 3 fig. 4 fig. 5 fig. 6 fig. 7 FIG. 8 fig. 9 fig. 10 fig. 11 fig. 12 fig. 13 PMID:2589782

  10. Leptomeningeal metastasis from supratentorial malignant gliomas.

    PubMed

    Awad, I; Bay, J W; Rogers, L

    1986-08-01

    The clinical and diagnostic findings in 13 patients with leptomeningeal metastasis from supratentorial malignant gliomas are reported. Criteria for inclusion in this study were positive myelographic examination, positive cerebrospinal fluid cytology on two or more samples, or evidence of leptomeningeal seeding at autopsy. Eight patients had premortem symptoms of leptomeningeal metastasis, with the diagnosis confirmed during life in 5 patients. Average survival after the onset of symptoms was 3 months (range, 1 to 5 months). Comparison of the autopsied group with 10 concurrent autopsied patients without leptomeningeal gliomatosis did not reveal any significant differences in age, but leptomeningeal gliomatosis was more prevalent in patients with longer postoperative survival. Leptomeningeal involvement at autopsy was more extensive in symptomatic patients. Cerebrospinal fluid examination often gave nondiagnostic or nonspecific results. Computed tomography of the brain showed evidence of ventriculomegaly, periventricular contrast enhancement, or multifocal tumor involvement in every case. Iophendylate myelography was the most reliable diagnostic tool and established the diagnosis whenever performed. The natural history and clinical significance of leptomeningeal metastasis from supratentorial malignant gliomas are discussed. PMID:3748352

  11. Ultrastructure of human malignant diffuse mesothelioma.

    PubMed Central

    Suzuki, Y.; Kannerstein, M.

    1976-01-01

    Eleven cases of malignant diffuse mesotheliomas, histologically classified into two groups, epithelial (5 pleural and 3 peritoneal) and biphasic or mixed (2 pleural and 1 peritoneal) forms, were stuied by electron microscopy to elucidate their ultrastructural characteristics. The neoplastic cells of the epithelial forms were varied in ultrastructure, from well differentiated (marked by polarity, micovilli, glycogen granules, junctional structures, tonofilaments, intracellular vacuoles, and a basement membrane) to poorly differentiated (which lacked some of these epithelial characteristics). In four of eight instances in epithelial type tumors, nonepithelial or mesenchymal neoplastic cells were recognized. The biphasic or mixed cases included three major cell types: epithelial, atypical epithelial, and mesenchymal. It appeared that there were transitional forms among the three cell types. The observations support the concept that the neoplastic cell of malignant mesothelioma can differentiate into a number of cell lines. Images Figures 20 and 21 Figure 22 Figure 23 Figures 24 and 25 Figure 26 Figure 27A Figure 27B and C Figure 28 Figure 29 Figure 30 Figure 31 Figures 32 and 33 Figure 34 Figure 35 Figure 36 Figures 1-4 Figures 5 and 6 Figure 37 Figures 7-10 Figure 11 Figure 12 Figure 13 Figure 14 Figure 15 Figure 16 Figures 17 and 18 Figure 19 PMID:998721

  12. New sources of drugs for hematologic malignancies

    PubMed Central

    Sukhai, Mahadeo A.; Spagnuolo, Paul A.; Weir, Scott; Kasper, James; Patton, Lavonne

    2011-01-01

    Advancing novel therapeutic agents for the treatment of malignancy into the marketplace is an increasingly costly and lengthy process. As such, new strategies for drug discovery are needed. Drug repurposing represents an opportunity to rapidly advance new therapeutic strategies into clinical trials at a relatively low cost. Known on-patent or off-patent drugs with unrecognized anticancer activity can be rapidly advanced into clinical testing for this new indication by leveraging their known pharmacology, pharmacokinetics, and toxicology. Using this approach, academic groups can participate in the drug discovery field and smaller biotechnology companies can “de-risk” early-stage drug discovery projects. Here, several scientific approaches used to identify drug repurposing opportunities are highlighted, with a focus on hematologic malignancies. In addition, a discussion of the regulatory issues that are unique to drug repurposing and how they impact developing old drugs for new indications is included. Finally, the mechanisms to enhance drug repurposing through increased collaborations between academia, industry, and nonprofit charitable organizations are discussed. PMID:21511957

  13. 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

  14. Hypopharyngeal foreign body masquerading as malignancy.

    PubMed

    Rana, I; Syed, M I; Adams, C; Clark, L J

    2009-10-24

    Foreign body ingestion in dental and ENT practice is a commonly encountered emergency. In most cases, particularly in adults, there is a definite history of its ingestion, the nature of the foreign body is usually identifiable and the patient almost always presents immediately. We report an unusual case of an elderly patient with a six month history of progressive dysphagia referred to us by the physicians after investigations which were highly suggestive of a hypopharyngeal malignancy. Surprisingly when a biopsy was attempted, the hypopharyngeal mass turned out to be a dental plate. Dentists and otolaryngologists should be aware that pharyngeal foreign bodies can present without a positive history and can have a clinical presentation mimicking malignancy. A history of head injury, dementia, alcohol and drug abuse should be specifically excluded. A routine examination of a patient with dysphagia should include eliciting a specific history of wearing dentures and examination of teeth. In future designs for dental plates, bridges and crowns the use of a radio opaque material should be considered. PMID:19851377

  15. 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

  16. Lack of intestinal pacemaker (C-KIT-positive) cells in infantile hypertrophic pyloric stenosis

    Microsoft Academic Search

    Atsuyuki Yamataka; Toshio Fujiwara; Yoshifumi Kato; Tadaharu Okazaki; Masakatsu Suhagawa; Takeshi Miyano

    1996-01-01

    The pathogenesis of infantile hypertrophic pyloric stenosis (IHPS) is not well understood. Recent studies have shown that the protooncogene c-kit is essential for the development or maintenance of autonomic gut motility, and also show that the c-kit gene protein product (C-KIT) positive cells in the mammalian gut are responsible for intestinal pacemaker activity. This study examines cells in the pyloric

  17. Chromosomal localization of two genes underlying late-infantile neuronal ceroid lipofuscinosis

    Microsoft Academic Search

    Jonathan L. Haines; Rose-Mary N. Boustany; Joseph Alroy; Kristen J. Auger; Kerida S. Shook; Henry Terwedow; Terry J. Lerner

    1998-01-01

    Classical late-infantile neuronal ceroid lipofuscinosis (LINCL;CLN2) is an inherited neurodegenerative disorder of childhood characterized by seizures, loss of vision, and progressive motor\\u000a and mental deterioration. The hallmark of this disease is the accumulation of enlarged, secondary lysosomes packed with curvilinear\\u000a bodies in cells of affected individuals. The biochemical basis of LINCL remains unknown and there is no treatment effective\\u000a in

  18. 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

  19. Late Infantile Neuronal Ceroid Lipofuscinosis Is Due to Splicing Mutations in the CLN2 Gene

    Microsoft Academic Search

    Jaana M. Hartikainen; Weina Ju; Krystyna E. Wisniewski; Dorota N. Moroziewicz; Alexandra L. Kaczmarski; Lucille McLendon; David Zhong; Carolin T. Suarez; W. Ted Brown; Nan Zhong

    1999-01-01

    Late infantile neuronal ceroid lipofuscinosis, LINCL, is one of the most common pediatric neurodegenerative disorders. It is caused by mutations in the CLN2 gene, which encodes a lysosomal pepstatin-insensitive peptidase (LPIP). We have identified a novel mutation, T523-1G ? A, by molecular analyses of three unrelated LINCL cases. The mutation was found to affect a 3? intronic splicing acceptor site,

  20. 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

  1. Stretched and sheared microcatheter retained after onyx embolization of infantile myofibromatosis.

    PubMed

    Puri, A S; Rahbar, R; Dearden, J; Graham, R J; Lillehei, C; Orbach, D B

    2011-06-01

    We describe a rare neurointerventional complication, namely a stretched and sheared microcatheter, extending 52 cm from its point of retention within an Onyx cast in an infant patient's neck mass, to the groin. The tumor was an unusual manifestation of infantile myofibromatosis and prior attempts at resection had proven impossible due to bleeding. Recommendations regarding microcatheter selection, diagnostic workup, and management of the ensuing complication are given. PMID:21696669

  2. La mejora de la educación infantil desde el análisis del pensamiento práctico de sus educadores

    Microsoft Academic Search

    Javier Argos

    2000-01-01

    \\u000a Resumen  La mejora de la Educación Infantil ha de fundamentarse, entre otros elementos o referentes, en los docentes que la han de\\u000a implementar. Para ello, nuestro interés deberá centrarse no tanto en el qué (contenido) y en el cómo (modo) de su actuación\\u000a sino en lo relacionado con el por qué y el para qué de su acción pedagógica.\\u000a \\u000a De los

  3. Epilepsy associated with infantile hemiparesis: predictors of long-term evolution

    Microsoft Academic Search

    Roberto Gaggero; Raffaella Devescovi; Alessandra Zaccone; Giambattista Ravera

    2001-01-01

    To study the evolution of epilepsy associated with infantile hemiparesis (IH) in relation to age and identification of factors predictive of pharmacoresistance. Thirty-four children with epilepsy and associated IH were followed for a period of 13 years and 3 months (range 5–19 years). All the patients underwent clinical evaluation and EEG, CT and\\/or MRI. Disease course was evaluated from the

  4. Genetic complementation in somatic cell hybrids of four variants of infantile G M2 gangliosidosis

    Microsoft Academic Search

    S. Sonderfeld; S. Brendler; K. Sandhoff; H. Galjaard; A. T. Hoogeveen

    1985-01-01

    Summary  Cell hybridizations between fibroblasts of four variants (B, O, AB, and B1) of infantile GM2 gangliosidosis were performed. Cocultivated as well as hybrid cells were analyzed for their capability to degrade exogenously\\u000a added [3H]-GM2. Hybridization of variant AB fibroblasts with fibroblasts of variant O, variant B, or variant B1 resulted in an enhanced\\u000a rate of GM2 hydrolysis, showing intergenic complementation.

  5. Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population

    Microsoft Academic Search

    Ivanka Sinigerska; David Chandler; Vijesh Vaghjiani; Irfet Hassanova; Rebecca Gooding; Amelia Morrone; Ivo Kremensky; Luba Kalaydjieva

    2006-01-01

    The Gypsies are a trans-national founder population of Asian descent, whose genetic heritage is still incompletely characterized. Here, we describe the first founder mutation leading to a lysosomal storage disorder in this population: R59H in GLB1, which causes infantile GM1-gangliosidosis. The R59H carrier rate is ?2% in the general Gypsy population and ?10% in the Rudari sub-isolate. Haplotype analysis suggests

  6. Infantile hydrocephalus in the south-western region of Saudi Arabia.

    PubMed

    el Awad, M E

    1992-01-01

    During the period January 1988 to December 1990, the overall incidence of infantile hydrocephalus in the south-western region of Saudi Arabia was 0.81/1000. The series comprised 61 infants affected by infantile hydrocephalus. The total number of live births in this period was 74,923. Hydrocephalus associated with spinal dysraphism (spina bifida cystica and encephalocoele) constituted 24 cases (39.3%), and there was aqueduct stenosis in 10 cases (16.4%). Nine cases (11.9%) were post-meningitic, and seven (14.8%) post-haemorrhagic. There was Dandy-Walker malformation in five cases (8.2%), three (4.9%) had congenital idiopathic hydrocephalus, two (3.3%) congenital toxoplasmosis, and one (1.6%) isolated Arnold Chiari malformation. There were congenital causes in 45 cases, 73.7% of all the cases in this series (incidence: 0.6/1000 births). Of the remaining 16 cases (26.3%) which were due to postnatal factors, seven (11.5%) were caused by acquired cerebral haemorrhage, only two of them being premature, and the other nine (14.8%) were due to meningitis. The data indicate the predominance of prenatal causes of infantile hydrocephalus and the relatively low contribution of extreme prematurity. This is possibly due to the high mortality of this group of infants in this region. PMID:1280053

  7. 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

  8. [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

  9. Non-epithelial malignancies and metastatic tumours of the breast

    Microsoft Academic Search

    Mark E O'Donnell; Mark McCavert; Jim Carson; Fred J Mullan; Michael W Whiteside; W Ian

    Introduction: Non-epithelial breast malignancies include primary lymphomas, sarcomas, haematological malignancies, melanomas as well as secondary metastases to the breast. They account for less than 1% of all breast tumours. The demographics and clinical features are similar to epithelial breast cancers but the prognosis and management options are often very different. Most reported series are small with limited follow-up. The main

  10. Pigmented Mammary Paget Disease Misdiagnosed as Malignant Melanoma

    PubMed Central

    Lee, Ji Hye; Kim, Tae Hyung; Kim, Soo-Chan; Kim, You Chan

    2014-01-01

    Pigmented mammary Paget disease is a very rare clinicopathologic variant of mammary Paget disease. Diagnosis is often difficult because its clinical and histological features are very similar to those of malignant melanoma. Herein, we report a case of pigmented mammary Paget disease misdiagnosed as malignant melanoma. PMID:25473229

  11. The Role of Diagnostic Laparoscopy in Pancreatic and Periampullary Malignancies

    Microsoft Academic Search

    Helmut Friess; Jörg Kleeff; Juan Carlos Silva; Charlotte Sadowski; Hans U Baer; Markus W Büchler

    1998-01-01

    Background: The role of diagnostic laparoscopy before laparotomy in patients with pancreatic or periampullary malignancies remains controversial. We analyzed the value of using diagnostic laparoscopy to avoid laparotomy in these patients.Study Design: Between November 1993 and December 1996, 254 patients with pancreatic or periampullary malignancies were treated. In 74 patients, multiple distant metastases precluded further surgical treatment. In all, 180

  12. Bafl-boyun mukozal malign melanomlu üç olgunun sunumu

    Microsoft Academic Search

    T. Balam; M. Sar; Z. M. Yaz; N. Özdemir; C. Üneri

    2006-01-01

    38 Mucosal melanoma of the head and neck: report of three cases Primary malignant mucosal melanoma of the head and neck is a rare and usually lethal disease, accounting for only 0.5-2% of all malignant melanomas. Of lesions arising in head and neck, the most frequent location is the nasal cavity followed by the oral mucosa. In general, suspicious lesions

  13. A Geo-Pathological Study on Malignant Melanoma in Japan

    Microsoft Academic Search

    W. Mori

    1971-01-01

    Two hundred and twelve autopsied cases of malignant melanoma observed in Japan were studied as to incidence, primary sites, and mode of metastases, mainly from the point of view of geographic pathology. The overall incidence among all autopsy cases was 0.16%. Malignant melanoma in Japan seems to have some specific features such as: (1) a relatively low incidence of cutaneous

  14. Hematopoietic stem cell transplantation for childhood malignancies of myeloid origin

    Microsoft Academic Search

    S Shenoy; F O Smith

    2008-01-01

    Myeloid malignancies in children include de novo acute\\/chronic myeloid leukemia (AML\\/CML) and secondary malignancy due to genetic predisposition or previous therapy. Generations of clinical trials for childhood myeloid disorders have resulted in improved disease characterization and outcome, and defined therapeutic strategies combining chemotherapy, biologic response modifiers and immunotherapy. With advancement in molecular genetics and the development of sensitive techniques to

  15. Palliation of proximal malignant biliary obstruction by endoscopic endoprosthesis insertion

    Microsoft Academic Search

    A A Polydorou; S R Cairns; J F Dowsett; A R Hatfield; P R Salmon; P B Cotton; R C Russell

    1991-01-01

    For four years up to December 1987, 190 patients (median age 73 years) with proximal malignant biliary obstruction were treated by endoscopic endoprosthesis insertion. Altogether 101 had cholangiocarcinoma, 21 gall bladder carcinoma, 20 local spread of pancreatic carcinoma, and 48 metastatic malignancy. Fifty eight patients had type I, 54 type II, and 78 type III proximal biliary strictures (Bismuth classification).

  16. Cytostaticahaltiger Knochenzement: Neue Aspekte in der Behandlung maligner Knochentumoren

    Microsoft Academic Search

    H.-U. Langendorff; K. H. Jungbluth; E. Dingeldein; H. Wahlig; G. Delling; R. Senokowitsch

    1987-01-01

    Summary Radical surgery in malignant bone tumors can either be limited by anatomical structures or seems inadequate in the palliative stabilization of bone metastases. Incomplete removal of the tumor and stabilization by compound osteosynthesis or endoprosthesis contains two problems: 1) the wide spread of malignant cells by manipulation in the tumor bearing area; 2) progressive destruction of bone due to

  17. Virtual bronchoscopy for evaluation of malignant tumors of the thorax

    Microsoft Academic Search

    Steven E. Finkelstein; Ronald M. Summers; Dao M. Nguyen; John H. Stewart; Jean A. Tretler; David S. Schrump

    2002-01-01

    Objective: Virtual bronchoscopy is a novel technique making use of 3-dimensional reconstruction of 2-dimensional helical computed tomographic images for noninvasive evaluation of the tracheobronchial tree. This study was undertaken to evaluate the diagnostic potential of virtual bronchoscopy by comparing virtual bronchoscopic images with fiberoptic bronchoscopic findings in patients with thoracic malignant disease. Methods: Thirty-two consecutive patients with thoracic malignant tumors

  18. Orthotopic cardiac transplantation in two patients with previous malignancy.

    PubMed

    Hinkamp, T; Sullivan, H; Bakhos, M; Grieco, J; Pifarré, R

    1991-06-01

    This report presents 2 patients with previous malignancy in whom congestive cardiomyopathy developed secondary to doxorubicin toxicity. Both patients underwent orthotopic cardiac transplantation 3 and 5 years ago and are now in functional class I with no evidence of malignant recurrence. PMID:2039297

  19. Talc mediates angiostasis in malignant pleural effusions via endostatin induction

    Microsoft Academic Search

    N. Najmunnisa; K. A. Mohammed; S. Brown; Y. Su; P. S. Sriram; B. Moudgil; R. Loddenkemper; V. B. Antony

    2007-01-01

    Talc remains the most effective sclerosing agent for pleurodesis. However, its mechanism of action in resolving pleural malignant disease remains unclear. The present study evaluated the angiogenic balance in the pleural space in patients with malignant pleural effusions (MPE) following talc insufflation. Patient pleural fluid samples were collected both before and after talc insufflation. The ability of pleural mesothelial cells

  20. Neuroleptic malignant syndrome: A complication of neuroleptics and cocaine abuse

    Microsoft Academic Search

    MaCaulay J. Akpaffiong; Pedro Ruiz

    1991-01-01

    One hundred and sixty psychiatric patients on Neuroleptics, with and without a history of substance abuse were daily monitored in order to establish the incidence of neuroleptic malignant syndrome in these two groups. Four (5.1%) of the cocaine abusers and none of the non-cocaine abusers developed neuroleptic malignant syndrome when treated with neuroleptics. Thus we argue that psychiatric patients with

  1. [Diagnosis of malignant thyroid tumors by indirect thyroid lymphography].

    PubMed

    Serpukhovitin, S Iu; Bukhman, A I; Kazeev, K N; Tochilin, A V

    1985-01-01

    Indirect thyroidolymphography was used for 38 patients with malignant thyroid tumors. A conclusion has been made that indirect lymphography of the thyroid is a simple and rather informative diagnostic method for malignant thyroid tumors and should be followed by spot biopsy. PMID:2997774

  2. Acute leukaemia following malignant ependymoma: a case report

    SciTech Connect

    Pai, M.R.; Advani, S.H.; Gopal, R.; Nair, C.N.; Saikia, T.; Kamat, D.M.

    1985-05-01

    Though an increasing number of chemotherapy- and radiotherapy-related leukaemias are being reported, acute promyelocytic leukaemia developing as a therapy-related second malignancy is still uncommon. Here the authors report a case of acute promyelocytic leukemia, microgranular variant, developing in a case of intracranial malignant ependymoma, 1.5 years following treatment with craniospinal radiotherapy.

  3. Biopsy-negative malignant esophageal stricture: diagnosis by endoscopic ultrasound

    Microsoft Academic Search

    Douglas O. Faigel; Clifford Deveney; Daniel Phillips; M. Brian Fennerty

    1998-01-01

    Endoscopic ultrasound (EUS) of the esophagus has been used primarily in staging biopsy-proven cancers. Its use as a primary diagnostic modality for esophageal malignancy has not been previously described. We report our recent experience in four patients with dysphagia and endoscopic biopsies negative for malignancy, including one patient with clinical and manometric features suggestive of achalasia. In all cases, EUS

  4. Integrative therapies for children with hematological malignancies.

    PubMed

    Kelly, Kara M

    2009-01-01

    Evidence for integrative therapies (IT) in children with hematological malignancies is slowly evolving. The ideal model of integrative pediatric oncology would offer IT modalities that are deemed safe and effective in conjunction with effective conventional medical treatments. Because of potential interactions, herbs and other dietary supplements should be used with caution, especially during active therapy. Health and wellness should be the emphasis, with IT therapies supporting health promotion and key disease prevention strategies for childhood cancer survivors. All uses, responses, and effects of IT therapies should be carefully documented. A desire to use IT therapies may be an effort to become an active participant in the healing process. Health care providers should encourage, not discourage, this partnership. PMID:20008215

  5. 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

  6. [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

  7. Small bowel diaphragm disease mimicking malignancy.

    PubMed

    Sarantitis, Ioannis; Gerrard, Adam Daniel; Teasdale, Rebecca; Pettit, Stephen

    2015-01-01

    Non-steroidal anti-inflammatory drugs (NSAIDs) can produce diaphragm disease where multiple strictures develop in the small bowel. This typically presents with anaemia and symptoms of small bowel obstruction. The strictures develop as a result of circumferential mucosal ulceration with subsequent contraction of rings of scar tissue. We report a case of a 47-year-old woman with a 6-month history of NSAIDs abuse who presented with subacute small bowel obstruction 1?year after stopping NSAIDs. CT and MRI showed multiple ileal strictures with florid locoregional lymphadenopathy. A malignant diagnosis such as lymphoma was considered likely as florid mesenteric lymphadenopathy has not been previously reported in diaphragm disease. Laparotomy with small bowel resection was therefore performed. Histology showed diaphragm disease with the enlarged mesenteric nodes having reactive features. Gross locoregional lymphadenopathy should not deter a diagnosis of diaphragm disease in cases of multiple small bowel strictures where there is a strong history of NSAIDs use. PMID:26174729

  8. Malignant melanoma of the nasal septum.

    PubMed

    Lazzeri, Davide; Agostini, Tommaso; Giacomina, Alessandro; Giannotti, Giordano; Colizzi, Livio; De Rosa, Maurizio; Massei, Pietro; Pantaloni, Marcello

    2010-11-01

    Primary malignant melanoma involving the nasal and paranasal sinus mucosa is a rare neoplasm, accounting for less than 1% of all melanomas. Being more aggressive than its cutaneous counterpart, it carries a poor prognosis. We report a case arising from the nasal septum mucosae in a 78-year-old man. We describe clinical features, diagnosis, and treatment of this rare disease along with a review of the pertinent literature. Endoscopic resection of the neoplasm was performed, enabling diagnosis of sinonasal mucosal melanoma involving the frontal sinus floor. Because the patient was too compromised to achieve radical surgical approach (craniofacial resection), he underwent radiation therapy. Through this article, we wish to emphasize that early diagnosis with a high index of suspicion is critical because this type of tumor is extremely aggressive. Its location and relatively nonspecific features frequently delay diagnosis, and its rarity avoids an optimal treatment guideline setting. PMID:21119468

  9. Malignant glomus tumor in pleural cavity

    PubMed Central

    Lin, Feng; Yang, Mei; Pu, Qiang; Ma, Lin; Liu, Chengwu; Mei, Jiandong; Guo, Chenglin

    2015-01-01

    Glomus tumors, an uncommon hypervascular tumor, arise from modified smooth muscle cells of the glomus body that plays a significant role in the regulation of skin circulation. The tumors are usually located in the extremities, typically in the subungual region of the fingers. Primary glomus tumors of the chest are extremely rare, and to our knowledge, there are no cases have been described in thoracic cavity to date. We here report a case of intrathoracic glomus tumor in a 31-year-old man who presented with a persistent chest pain. Chest computed tomography scans demonstrated an irregularly shaped mass in the left thorax. Left thoracotomy was performed under the suspicious diagnosis of unexplained thorax tumor, and a tumor located in the left upper portion of thorax was founded. Complete resection of tumor along with the partial structure of chest wall was performed. Postoperative diagnosis was malignant glomus tumor.

  10. Thoracic Computed Tomography Findings in Malignant Mesothelioma

    PubMed Central

    Tamer Dogan, Omer; Salk, Ismail; Tas, Fikret; Epozturk, Kursat; Gumus, Cesur; Akkurt, Ibrahim; Levent Ozsahin, Sefa

    2012-01-01

    Background Malignant pleural mesothelioma (MPM) is an uncommon neoplasm. MPM occurs more frequently in patients born or living in certain villages of Turkey. Objectives We aimed to review radiological findings of MPM. Patients and Methods We reviewed the CT findings in 219 biopsy-proven MPM patients admitted to our clinic between 1993 and 2008. Results The most common CT findings included pleural thickening (n=197, 90%) classified as diffuse (n=138, 63%), nodular (n=49, 22%) and mass-type (n=16, 7%). Pleural effusion was found in 173 patients (79%), involvement of the interlobar fissures in 159 (73%), mediastinal pleural involvement in 170 (78%), volume contraction in 142 (65%), mediastinal shift in 102 (47%) and mediastinal lymphadenopathy in 54 (25%). Conclusion MPM may present with diverse radiological features. Pleural thickening and pleural effusion were the most frequent radiological findings. Thoracic CT scans might be assessed more cautiously in patients with environmental exposure to asbestos. PMID:23407863

  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. 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

  13. Human malignant melanoma heterotransplanted to nude mice.

    PubMed

    Tropé, C; Johnsson, J E; Alm, P; Landberg, T; Olsson, H; Wennerberg, J

    1981-01-01

    Five different human malignant melanoma were heterotransplanted subcutaneously to nude mice. When small tissue pieces were used 3 out of 5 tumors grew. Subcutaneous injections of suspended tumor cells were also made, but all failed to take. Metastatic or infiltrative growth was never seen in the mice observed for up to 2.5 months. The successful grafts largely retained the original morphologicaL features. The three successfully transplanted tumors could all be serially transferred with 100% tumor take. In one case passage time was reduced from 40 days to 15 days. As measured with 3H-thymidine incorporation the proliferation rate increased during the passages. These changes might be due to a selection of more rapidly growing tumor cells in the nudes. PMID:7312076

  14. Cancer stem cells in haematological malignancies.

    PubMed

    Zagozdzon, Radoslaw; 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

  15. Primary malignant neoplasm of the female urethra

    SciTech Connect

    Ampil, F.L.

    1985-12-01

    This is a retrospective review of 11 cases of primary malignant neoplasm of the female urethra seen at the Louisiana State University Medical Center in Shreveport from 1951 to 1984. The disease was relatively more frequent in the 60- to 79-year age-group. Squamous cell carcinoma was the most common among the different observed histopathology. A modified clinical staging system is introduced. At diagnosis, eight of 11 subjects (73%) had locally extensive disease. The majority of the patients were treated with radiotherapy alone or in combination with surgery. The overall severe complication rate was low. The poor results (20% local control and survival) obtained in this small experience suggest that perhaps a study using promising adjuvant chemotherapeutic agents is warranted. A literature review summary of reported radiotherapy results is included.

  16. Minimal invasive treatments for liver malignancies.

    PubMed

    Orsi, Franco; Varano, Gianluca

    2015-11-01

    Minimal invasive therapies have proved useful in the management of primary and secondary hepatic malignancies. The most relevant aspects of all these therapies are their minimal toxicity profiles and highly effective tumor responses without affecting the normal hepatic parenchyma. These unique characteristics coupled with their minimally invasive nature provide an attractive therapeutic option for patients who previously may have had few alternatives. Combination of these therapies might extend indications to bring curative treatment to a wider selected population. The results of various ongoing combination trials of intraarterial therapies with targeted therapies are awaited to further improve survival in this patient group. This review focuses on the application of ablative and intra-arterial therapies in the management of hepatocellular carcinoma and hepatic colorectal metastasis. PMID:26050603

  17. GLO1 overexpression in human malignant melanoma.

    PubMed

    Bair, Warner B; Cabello, Christopher M; Uchida, Koji; Bause, Alexandra S; Wondrak, Georg T

    2010-04-01

    Glyoxalase I [lactoylglutathione lyase (EC 4.4.1.5) encoded by GLO1] is a ubiquitous cellular defense enzyme involved in the detoxification of methylglyoxal, a cytotoxic byproduct of glycolysis. Accumulative evidence suggests an important role of GLO1 expression in protection against methylglyoxal-dependent protein adduction and cellular damage associated with diabetes, cancer, and chronological aging. On the basis of the hypothesis that GLO1 upregulation may play a functional role in glycolytic adaptations of cancer cells, we examined GLO1 expression status in human melanoma tissue. Quantitative reverse transcription polymerase chain reaction analysis of a cDNA tissue array containing 40 human melanoma tissues (stages III and IV) and 13 healthy controls revealed pronounced upregulation of GLO1 expression at the mRNA level. Immunohistochemical analysis of a melanoma tissue microarray confirmed upregulation of glyoxalase I protein levels in malignant melanoma tissue versus healthy human skin. Consistent with an essential role of GLO1 in melanoma cell defense against methylglyoxal cytotoxicity, siRNA interference targeting GLO1-expression (siGLO1) sensitized A375 and G361 human metastatic melanoma cells towards the antiproliferative, apoptogenic, and oxidative stress-inducing activity of exogenous methylglyoxal. Protein adduction by methylglyoxal was increased in siGLO1-transfected cells as revealed by immunodetection using a monoclonal antibody directed against the major methylglyoxal-derived epitope argpyrimidine that detected a single band of methylglyoxal-adducted protein in human LOX, G361, and A375 total cell lysates. Using two-dimensional proteomics followed by mass spectrometry the methylglyoxal-adducted protein was identified as heat shock protein 27 (Hsp27; HSPB1). Taken together, our data suggest a function of GLO1 in the regulation of detoxification and target adduction by the glycolytic byproduct methylglyoxal in malignant melanoma. PMID:20093988

  18. Targeting Cyclooxygenase-2 in Hematological Malignancies: Rationale and Promise

    PubMed Central

    Bernard, M. P.; Bancos, S.; Sime, P. J.; Phipps, R. P.

    2009-01-01

    There is much interest in the potential use of Cox-2 selective inhibitors in combination with other cancer therapeutics. Malignancies of hematopoietic and non-hematopoietic origin often have increased expression of cyclooxygenase-2 (Cox-2), a key modulator of inflammation. For example, hematological malignancies such as chronic lymphocytic leukemia, chronic myeloid leukemia, Hodgkin’s lymphoma, non-Hodgkin’s lymphoma and multiple myeloma often highly express Cox-2, which correlates with poor patient prognosis. Expression of Cox-2 enhances survival and proliferation of malignant cells, while negatively influencing anti-tumor immunity. Hematological malignancies expressing elevated levels of Cox-2 potentially avoid immune responses by producing factors that enhance angiogenesis and metastases. Cellular immune responses regulated by natural killer cells, cytotoxic T lymphocytes, and T regulatory cells are also influenced by Cox-2 expression. Therefore, Cox-2 selective inhibitors have promising therapeutic potential in patients suffering from certain hematological malignancies. PMID:18691115

  19. HIV/AIDS associated malignancies of the head and neck.

    PubMed

    Bunn, B K; van Heerden, W F P

    2012-11-01

    Patients with HIV/AIDS are at increased risk for the development of malignancy. Kaposi's sarcoma, non-Hodgkin's lymphoma and cervical carcinoma in women are regarded as AIDS-defining malignancies. The spectrum of malignancy is, however, changing, particularly where patients receive highly active antiretroviral therapy (HAART). South Africa has the highest number of HIV-infected individuals globally. The possibility of the oral health care worker encountering HIV/AIDS-related pathology therefore seems inevitable. The aim of this article is to heighten the awareness of head and neck malignancies occurring in HIV/AIDS whilst highlighting some of the clinical features in order to facilitate early recognition and diagnosis. It is of clinical significance that in many instances, identification of these malignancies precedes HIV/AIDS diagnosis. Optimal patient management requires close co-operation between the oral health care practitioner and the extended health care team. PMID:23957103

  20. Malignant degeneration of pulmonary juvenile-onset recurrent respiratory papillomatosis.

    PubMed

    Knepper, Benjamin R; Eklund, Meryle J; Braithwaite, Kiery A

    2015-07-01

    Juvenile-onset recurrent respiratory papillomatosis (JORRP) is a rare disease associated with the human papilloma virus (HPV) in which papillomas form along the aerodigestive tract in children. Pulmonary involvement is uncommon, but associated with worse clinical outcomes, including the rare complication of malignant transformation. We present a patient with JORRP in which lung disease underwent malignant transformation during adolescence. Our goal is to raise awareness of the potential for malignant transformation in children, as well as to familiarize pediatric radiologists with imaging features of malignant lung disease in JORRP. We advocate for the identification of the subgroup of JORPP patients with pulmonary disease who, due to increased risk for malignant transformation, may benefit from closer clinical and imaging surveillance by a multidisciplinary team. PMID:25487719

  1. More Complete Removal of Malignant Brain Tumors by Fluorescence-Guided Surgery

    ClinicalTrials.gov

    2015-06-02

    Benign Neoplasms, Brain; Brain Cancer; Brain Neoplasms, Benign; Brain Neoplasms, Malignant; Brain Tumor, Primary; Brain Tumor, Recurrent; Brain Tumors; Intracranial Neoplasms; Neoplasms, Brain; Neoplasms, Intracranial; Primary Brain Neoplasms; Primary Malignant Brain Neoplasms; Primary Malignant Brain Tumors; Gliomas; Glioblastoma

  2. Comparison of loss of heterozygosity patterns between ovarian tumors of low malignant potential and malignant ovarian tumors

    SciTech Connect

    Crawford, E.C.; Miller, D.M.; Finley, W.H. [Univ. of Alabama, Birmingham, AL (United States)] [and others

    1994-09-01

    Ovarian tumors of low malignant potential (LMP) represent a pathologic subtype of ovarian tumor that possess many features common to malignant tumors including epithelial stratification, increased mitotic activity and atypical cellularity. These tumors, however, do not invade the ovarian stroma and have a much improved patient prognosis. Utilizing dinucleotide repeats, loss of heterozygosity (LOH) studies were performed on a total of 12 ovarian tumors of LMP in 5 regions found to have significant levels of LOH in malignant ovarian tumors. The regions chosen for study were 3p, 6q, 11p, 17p and 17q. LOH could be demonstrated in malignant ovarian tumors in loci from 3p, 11p and both chromosomal arms of 17 when compared to normal tissue from the same patient. Loss in malignant tumors was more common in loci mapped to 3p21 and to 11p15. OH was not noted in any samples for a repeat in the TP53 gene even though flanking markers on 17p were lost in 1 patient with a malignant tumor. Loss was not demonstrated in any of the loci examined from 6q in malignant ovarian tumors. LOH was not demonstrated in any of the 39 loci examined from any of the five chromosomal regions in the ovarian tumors of LMP. Cytogenetic analyses of these LMP tumors were consistent with lack of involvement in these chromosomal regions. These data suggest the mechanism of tumorigenesis is different in tumors of LMP from that in malignant ovarian tumors.

  3. Role of human papillomavirus and its detection in potentially malignant and malignant head and neck lesions: updated review

    Microsoft Academic Search

    Ajay Kumar Chaudhary; Mamta Singh; Shanthy Sundaram; Ravi Mehrotra

    2009-01-01

    Head and neck malignancies are characterized by a multiphasic and multifactorial etiopathogenesis. Tobacco and alcohol consumption are the most common risk factors for head and neck malignancy. Other factors, including DNA viruses, especially human papilloma virus (HPV), may also play a role in the initiation or development of these lesions. The pathways of HPV transmission in the head and neck

  4. MFH Mimic in Breast: A High-Grade Malignant Phyllodes Tumor

    PubMed Central

    Hemalatha, A. L.; Sindhuram, V. Sumana; Asha, U.

    2012-01-01

    Malignant phyllodes tumor is usually diagnosed by the presence of benign duct-like epithelium and malignant mesenchymal tissue. In addition to the usual fibrosarcomatous features, the mesenchymal component may show areas resembling osteogenic sarcoma, chondrosarcoma, liposarcoma, leiomyosarcoma, rhabdomyosarcoma, malignant mesenchymoma, and, very rarely, malignant fibrous histiocytoma. We present one such rare case of malignant phyllodes tumor with malignant fibrous histiocytoma-like stromal differentiation. PMID:23119211

  5. The short-term effect of spinal manipulation in the treatment of infantile colic: A randomized controlled clinical trial with a blinded observer

    Microsoft Academic Search

    Jesper M. M. Wiberg; Jan Nordsteen; Niels Nilsson

    1999-01-01

    Objective: To determine whether there is a short-term effect of spinal manipulation in the treatment of infantile colic. Design: A randomized controlled trial. Setting: A private chiropractic practice and the National Health Service's health visitor nurses in the uburb Ballerup (Copenhagen, Denmark). Subjects: Infants seen by the health visitor nurses, who fulfilled the diagnostic criteria for infantile colic. Intervention: One

  6. The frequency of malignancy and the relationship between malignancy and ultrasonographic features of thyroid nodules with indeterminate cytology.

    PubMed

    Tutuncu, Yasemin; Berker, Dilek; Isik, Serhat; Akbaba, Gulhan; Ozuguz, Ufuk; Kucukler, Ferit Kerim; Göcmen, Erdal; Yalc?n, Yavuz; Aydin, Yusuf; Guler, Serdar

    2014-02-01

    Various approaches are available for the management of nodules that are evaluated to be indeterminate according to the results of thyroid fine needle aspiration biopsy. The present study aimed to determine the rate of malignancy and the ultrasonographic features that could be used as predictor of malignant pathologies at the nodules with indeterminate cytology. A total of 201 patients who underwent total thyroidectomy and whose fine needle aspiration biopsy results were evaluated to be Hurthle cell lesion (n = 99), follicular neoplasm (n = 61) and [corrected] suspicious for malignancy (n = 41) were enrolled in this study. Of these patients, 178 were females (88.6 %) and 23 were males (11.4 %). The rates of malignancy were found to be 33.3 % in the Hurthle cell lesion group, 23.0 % in the follicular neoplasm group and 53.7 % in the suspicious for malignancy group (p = 0.006). The comparison of the ultrasonographic characteristics of the malignant and benign nodules revealed hypoechogenicity and microcalcification to be more common in malignant nodules (34.3 vs. 16.9 %, p = 0.005; 27.1 vs. 13.1 %, p = 0.014; respectively). While 92.3 % of the malignant nodules were ?1 cm, 82.9 % of the benign nodules were ?1 cm (p = 0.042). We believe that as the patients at Hurthle cell lesion group have higher risk of malignancy than the patients with Follicular Neoplasia so total thyroidectomy will be suitable for these patients. [corrected]. In addition, microcalcification and hypoechoic nodules at patients with indeterminate cytology can be related with increased risk of malignancy. [corrected]. PMID:23504651

  7. Quantitative Proteomics Reveals Myosin and Actin as Promising Saliva Biomarkers for Distinguishing Pre-Malignant and Malignant Oral Lesions

    PubMed Central

    Onsongo, Getiria; Stone, Matthew D.; Chen, Xiao-Bing; Kooren, Joel A.; Refsland, Eric W.; Griffin, Robert J.; Ondrey, Frank G.; Wu, Baolin; Le, Chap T.; Rhodus, Nelson L.; Carlis, John V.; Griffin, Timothy J.

    2010-01-01

    Background Oral cancer survival rates increase significantly when it is detected and treated early. Unfortunately, clinicians now lack tests which easily and reliably distinguish pre-malignant oral lesions from those already transitioned to malignancy. A test for proteins, ones found in non-invasively-collected whole saliva and whose abundances distinguish these lesion types, would meet this critical need. Methodology/Principal Findings To discover such proteins, in a first-of-its-kind study we used advanced mass spectrometry-based quantitative proteomics analysis of the pooled soluble fraction of whole saliva from four subjects with pre-malignant lesions and four with malignant lesions. We prioritized candidate biomarkers via bioinformatics and validated selected proteins by western blotting. Bioinformatic analysis of differentially abundant proteins and initial western blotting revealed increased abundance of myosin and actin in patients with malignant lesions. We validated those results by additional western blotting of individual whole saliva samples from twelve other subjects with pre-malignant oral lesions and twelve with malignant oral lesions. Sensitivity/specificity values for distinguishing between different lesion types were 100%/75% (p?=?0.002) for actin, and 67%/83% (p<0.00001) for myosin in soluble saliva. Exfoliated epithelial cells from subjects' saliva also showed increased myosin and actin abundance in those with malignant lesions, linking our observations in soluble saliva to abundance differences between pre-malignant and malignant cells. Conclusions/Significance Salivary actin and myosin abundances distinguish oral lesion types with sensitivity and specificity rivaling other non-invasive oral cancer tests. Our findings provide a promising starting point for the development of non-invasive and inexpensive salivary tests to reliably detect oral cancer early. PMID:20567502

  8. Molecular analysis of the arylsulphatase A gene in late infantile metachromatic leucodystrophy patients and healthy subjects from Italy.

    PubMed Central

    Regis, S; Filocamo, M; Stroppiano, M; Corsolini, F; Gatti, R

    1996-01-01

    A molecular analysis of the arylsulphatase A gene was performed on 26 unrelated, Italian, late infantile metachromatic leucodystrophy patients. The frequency of the common disease causing mutations 609A and 2381T was 28.8% and 1.9% respectively. Pseudodeficiency allele frequency in patients was found to be 13.5% and a frequency of 10.1% was found in 89 unaffected normal controls. The frequency of the 609A mutation in Italian late infantile patients is lower than in late infantile patients from northern Europe, suggesting a higher frequency of different sporadic mutations in the Italian population. A cooperative in cis effect in phenotype determination involving arylsulphatase A mutations and the eventual background of the pseudodeficiency allele is proposed. Images PMID:8728704

  9. Noninvasive imaging of oral premalignancy and malignancy

    NASA Astrophysics Data System (ADS)

    Wilder-Smith, Petra; Krasieva, T.; Jung, W.; You, J. S.; Chen, Z.; Osann, K.; Tromberg, B.

    2005-04-01

    Objectives: Early detection of cancer and its curable precursors remains the best way to ensure patient survival and quality of life. Despite significant advances in treatment, oral cancer still results in 10,000 U.S. deaths annually, mainly due to the late detection of most oral lesions. Specific aim was to use a combination of non-invasive optical in vivo technologies to test a multi-modality approach to non-invasive diagnostics of oral premalignancy and malignancy. Methods: In the hamster cheek pouch model (120 hamsters), in vivo optical coherence tomography (OCT) and optical Doppler tomography (ODT) mapped epithelial, subepithelial and vascular change throughout carcinogenesis in specific, marked sites. In vivo multi-wavelength multi-photon (MPM) and second harmonic generated (SHG) fluorescence techniques provided parallel data on surface and subsurface tissue structure, specifically collagen presence and structure, cellular presence, and vasculature. Images were diagnosed by 2 blinded, pre-standardized investigators using a standardized scale from 0-6 for all modalities. After sacrifice, histopathological sections were prepared and pathology evaluated on a scale of 0-6. ANOVA techniques compared imaging diagnostics with histopathology. 95% confidence limits of the sensitivity and specificity were established for the diagnostic capability of OCT/ODT+ MPM/SHG using ROC curves and kappa statistics. Results: Imaging data were reproducibly obtained with good accuracy. Carcinogenesis-related structural and vascular changes were clearly visible to tissue depths of 2mm. Sensitivity (OCT/ODT alone: 71-88%; OCT+MPM/SHG: 79-91%) and specificity (OCT alone: 62-83%;OCT+MPM/SHG: 67-90%) compared well with conventional techniques. Conclusions: OCT/ODT and MPM/SHG are promising non-invasive in vivo diagnostic modalities for oral dysplasia and malignancy. Supported by CRFA 30003, CCRP 00-01391V-20235, NIH (LAMMP) RR01192, DOE DE903-91ER 61227, NIH EB-00293 CA91717, NSF BES-86924, AFOSR FA 9550-04-1-0101.

  10. Infantile Cellular Schwannoma Developing on the Skin with Atypical Clinical Features

    PubMed Central

    Fujimura, Taku; Tagami, Hachiro; Aiba, Setsuya

    2014-01-01

    Cellular schwannoma (CS) is a variety of schwannoma with a predominantly cellular growth, normally developing in middle-aged patients. In this report, we describe a 15-month-old infant with primary cutaneous CS on the knee. Because of its histologically malignant features, CS is sometimes overdiagnosed as a malignant nerve tumor. Therefore, awareness of this variant of schwannoma is important for dermatologists to avoid needless treatments for patients with CS. PMID:25232315

  11. Monitoring NK cell activity in patients with hematological malignancies

    PubMed Central

    Viel, Sébastien; Charrier, Emily; Marçais, Antoine; Rouzaire, Paul; Bienvenu, Jacques; Karlin, Lionel; Salles, Gilles; Walzer, Thierry

    2013-01-01

    Natural killer (NK) cells are lymphocytes of the innate immune system that can recognize and kill various types of malignant cells. Monitoring the activity of peripheral NK cells in patients affected by hematological malignancies may provide prognostic information or unveil ongoing tumor-specific immune responses. Moreover, further insights into the biology of NK cells might also promote the development of novel strategies for stimulating their anticancer activity. Here, we review the main methods to monitor phenotypic and functional NK cell properties in cancer patients, focusing on individuals affected by multiple myeloma, a hematological malignancy currently treated with immunomodulatory drugs. PMID:24327939

  12. Intraductal radiofrequency ablation for management of malignant biliary obstruction.

    PubMed

    Rustagi, Tarun; Jamidar, Priya A

    2014-11-01

    Self-expandable metal stents (SEMS) are the current standard of care for the palliative management of malignant biliary strictures. Recently, endoscopic ablative techniques with direct affect to local tumor have been developed to improve SEMS patency. Several reports have demonstrated the technical feasibility and safety of intraductal radiofrequency ablation (RFA), by both endoscopic and percutaneous approaches, in palliation of malignant strictures of the bile duct. Intraductal RFA has also been used in the treatment of occlusion of both covered and uncovered SEMS occlusion from tumor ingrowth or overgrowth. This article provides a comprehensive review of intraductal RFA in the management of malignant biliary obstruction. PMID:24906696

  13. Non-Hodgkin's Malignant Lymphoma with Aggressive Development

    PubMed Central

    DANCIU, Cezara Elisabeta; HEROIU (CATALOIU), Adriana-Daniela; POPESCU, Cristian Radu

    2014-01-01

    Non-Hodgkin's malignant lymphoma is a hematologic malignant disease which usually responds to the polychemotherapy. We present a clinical case report of a 50 years old patient who develops an aggressive type of lymphoma. Patient develops a nodal Non-Hodgkin's malignant lymphoma who present at hospital admission as a huge tumor at the right side of the neck. Any type of treatment was a failure, the patient having a particularly aggressive form of lymphoma, resistant to all three chemotherapy regimens tested. Death occurs quickly, about one year after diagnosis and initiation of therapy. PMID:25553129

  14. [Magnetic resonance imaging in the staging of malignant lymphomas].

    PubMed

    Mikha?lov, A I; Tiurin, I E; Panov, V O

    2014-01-01

    Computed tomography, 18FDG-PET and the hybrid FDG-PET/CT are the most commonly used diagnostic tools for the initial staging and treatment response assessment of malignant lymphomas. MRI techniques such as whole-body MRI and diffusion-weighted imaging may become good radiation-free alternatives to FDG-PET/CT. Diffusion-weighted imaging is characterized by high sensitivity for the detection of lesions and allows quantitative assessment of diffusion that may aid in the evaluation of malignant lymphomas. This article will review the value of these emerging MRI techniques for the staging and response assessment of malignant lymphoma. PMID:25272725

  15. Radiation-induced malignant and atypical peripheral nerve sheath tumors

    SciTech Connect

    Foley, K.M.; Woodruff, J.M.; Ellis, F.T.; Posner, J.B.

    1980-04-01

    The reported peripheral nerve complications of therapeutic irradiation in humans include brachial and lumbar plexus fibrosis and cranial and peripheral nerve atrophy. We have encountered 9 patients with malignant (7) and atypical (2) peripheral nerve tumors occurring in an irradiated site suggesting that such tumors represent another delayed effect of radiation treatment on peripheral nerve. In all instances the radio-theray was within an acceptable radiation dosage, yet 3 patients developed local radiation-induced skin and bony abnormalities. The malignant peripheral nerve sheath tumors developed only in the radiation port. Animal studies support the clinical observation that malignant peripheral nerve sheath tumors can occur as a delayed effect of irradiation.

  16. 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

  17. [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

  18. Stage IV malignant melanoma. Psychosocial issues.

    PubMed

    Pensiero, L

    1995-01-15

    The diagnosis of Stage IV malignant melanoma presents a difficult challenge for the patient with cancer, family, and health care providers. All must deal with a variety of psychosocial issues that range from the existential to the pragmatic. In the past decade an evolution in health care reimbursement methods has occurred, resulting in decreased length of stay in acute care facilities. It is at the point of hospitalization that patients' increasing needs most often become apparent. Physicians, nurses, and hospital social workers face the dilemma of providing care and support services in the reality of shrinking resources brought about by prospective payment, managed care, and cost containment policies. Health care delivery systems strive to meet the needs of patients with cancer through case management methods that link patients with a wide variety of medical and community resources. A case history is presented to demonstrate the need for collaboration among the members of the health care community in order to meet patient and family psychosocial needs. PMID:7805003

  19. Immunomodulatory Effects of Interferons in Malignancies

    PubMed Central

    Bekisz, Joseph; Sato, Yuki; Johnson, Chase; Husain, Syed R.; Puri, Raj K.

    2013-01-01

    Investigation of the antitumor and immunomodulatory activities of interferon (IFN) began shortly after the cytokine was discovered in 1957. Early work showed a direct correlation between administration of IFN and inhibition of symptoms associated with virally induced leukemia in mice as well as an increase in their survival time. Subsequent studies with purified IFNs confirmed the direct and indirect stimulation of immune cells, resulting in antitumor activities of IFN. Clinically, IFN-alphas (?s) have been shown to have activity against a variety of tumors. Initially, the U.S. Food and Drug Administration licensed 2 recombinant IFN-?s for the treatment of hairy-cell leukemia and then later for several other cancers. The success rate seen with IFNs and certain tumors has been varied. Unfortunately, some neoplasms show no response to IFN. Monocytes/macrophages play an important role in cancer progression. Monocytes in combination with IFN may be an important therapy for several cancers. This article focuses on the role of IFN and monocytes alone or in combination in affecting malignancies. PMID:23570381

  20. Malignant catarrhal fever: inching toward understanding.

    PubMed

    Li, Hong; Cunha, Cristina W; Taus, Naomi S; Knowles, Donald P

    2014-02-01

    Malignant catarrhal fever (MCF) is an often lethal infection of many species in the order Artiodactyla. It is caused by members of the MCF virus group within Gammaherpesvirinae. MCF is a worldwide problem and has a significant economic impact on highly disease-susceptible hosts, such as cattle, bison, and deer. Several epidemiologic forms of MCF, defined by the reservoir ruminant species from which the causative virus arises, are recognized. Wildebeest-associated MCF (WA-MCF) and sheep-associated MCF (SA-MCF) are the most prevalent and well-studied forms of the disease. Historical understanding of MCF is largely based on WA-MCF, in which the causative virus can be propagated in vitro. Characterization of SA-MCF has been constrained because the causative agent has never been successfully propagated in vitro. Development of molecular tools has enabled more definitive studies on SA-MCF. The current understanding of MCF, including its etiological agents, epidemiology, pathogenesis, and prevention, is the subject of the present review. PMID:25384141

  1. Mast cells mediate malignant pleural effusion formation.

    PubMed

    Giannou, Anastasios D; Marazioti, Antonia; Spella, Magda; Kanellakis, Nikolaos I; Apostolopoulou, Hara; Psallidas, Ioannis; Prijovich, Zeljko M; Vreka, Malamati; Zazara, Dimitra E; Lilis, Ioannis; Papaleonidopoulos, Vassilios; Kairi, Chrysoula A; Patmanidi, Alexandra L; Giopanou, Ioanna; Spiropoulou, Nikolitsa; Harokopos, Vaggelis; Aidinis, Vassilis; Spyratos, Dionisios; Teliousi, Stamatia; Papadaki, Helen; Taraviras, Stavros; Snyder, Linda A; Eickelberg, Oliver; Kardamakis, Dimitrios; Iwakura, Yoichiro; Feyerabend, Thorsten B; Rodewald, Hans-Reimer; Kalomenidis, Ioannis; Blackwell, Timothy S; Agalioti, Theodora; Stathopoulos, Georgios T

    2015-06-01

    Mast cells (MCs) have been identified in various tumors; however, the role of these cells in tumorigenesis remains controversial. Here, we quantified MCs in human and murine malignant pleural effusions (MPEs) and evaluated the fate and function of these cells in MPE development. Evaluation of murine MPE-competent lung and colon adenocarcinomas revealed that these tumors actively attract and subsequently degranulate MCs in the pleural space by elaborating CCL2 and osteopontin. MCs were required for effusion development, as MPEs did not form in mice lacking MCs, and pleural infusion of MCs with MPE-incompetent cells promoted MPE formation. Once homed to the pleural space, MCs released tryptase AB1 and IL-1?, which in turn induced pleural vasculature leakiness and triggered NF-?B activation in pleural tumor cells, thereby fostering pleural fluid accumulation and tumor growth. Evaluation of human effusions revealed that MCs are elevated in MPEs compared with benign effusions. Moreover, MC abundance correlated with MPE formation in a human cancer cell-induced effusion model. Treatment of mice with the c-KIT inhibitor imatinib mesylate limited effusion precipitation by mouse and human adenocarcinoma cells. Together, the results of this study indicate that MCs are required for MPE formation and suggest that MC-dependent effusion formation is therapeutically addressable. PMID:25915587

  2. Malignant histiocytosis. A phenotypic and genotypic investigation.

    PubMed Central

    Cattoretti, G.; Villa, A.; Vezzoni, P.; Giardini, R.; Lombardi, L.; Rilke, F.

    1990-01-01

    Ten cases of malignant histiocytosis (MH) were evaluated for clinical and histopathologic features, phenotype, and rearrangement of T cell receptor (TCR) beta, gamma, and alpha and immunoglobulin (Ig) genes (7/10). All cases were HLA-DR+ and CD30-positive. Four cases had molecular evidence of T cell lineage such as TCR beta, gamma, and alpha rearrangements, and one additional case synthesized the cytoplasmic TCR beta chain. The remaining five cases did not show unequivocal T, B, natural killer (NK) cell, or macrophagic origin, and three of them had germline TCR and Ig genes. Ultrastructural analysis was not helpful for the definition of the cell lineage. Most myelomonocytic markers (MAC387, CD13, CD14, CD64, CD68) were either negative on the MH cells or were expressed on cells with rearranged TCR gene. Precursor (CD34, CD7) and NK (CD16, CD56, and CD57) cell markers were not found. The lineage of a number of cases of MH remains unresolved. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 Figure 7 Figure 8 Figure 9 Figure 10 PMID:2349962

  3. Polichemotherapy of advanced head and neck malignancies.

    PubMed

    Fazio, M; Cavallero, P; Minetto, E; Rattalino, P G; Sartoris, S

    1976-01-01

    The favorable results obtained by other authors with polichemotherapy encouraged us to employ therapeutic scheme using a combination of 4 drugs. Treatment envolved the administration of 300 mg/mz cyclophosphamide, 350 mg/m2 5-fluorouracil, 10 mg/mw2 methotrexate i.v. on alternate days 6-8 times, and 15 mg bleomycin on alternate days until a total dose of 150-200 mg is reached. Thirty-five out of 37 patients treated with this protocol (30 previously treated and 5 not) qualified for analysis; the site of the neoplasm, mostly squamous cell carcinoma, was different; for the most part it was in the larynx (18/35) and the oral cavity (10/35). Complete remission was achieved in 9/35 patients (25.7%), varying from 5 to 33 months (median 22); partial remission was achieved in 15/35 cases (42.8%), varying from 1 to 14 months (median 3); and there was no success in 11/35 cases (31.5%). Overall, a total remission greater than 50% was observed in 24/35 patients (68.5%). The most serious side effects both ascribed to BLM were observed in the central nervous system (increasing drowsiness and coma) and the lung. This study has shown that in the ultra head and neck malignancies medical treatment can achieve satisfactory results. PMID:67688

  4. Sino-nasal mucosal malignant melanoma.

    PubMed

    Karim, Muneeb Uddin; Khan, Khursheed; Ali, Nasir; Ikram, Mubasher

    2015-01-01

    A 49-year-old man with a history of left nasal discharge and nasal cavity blockage for 5?months was diagnosed with sino-nasal mucosal malignant melanoma on nasal biopsy. On CT scan, the tumour involved the nasal cavity, left maxillary sinus, ethmoid sinus and medial left orbit. The tumour was grossly excised and adjuvant radiation therapy was offered. The patient was planned for an Intensity Modulated Radiotherapy technique to keep tolerance doses of organs at risk within normal limits and at same time deliver the intended dose of radiation to the tumour site, using 66?Gy in 33 fractions. Owing to the anatomical complexity of the sino-nasal region, precision radiotherapy (RT) is mandatory to optimally irradiate the tumour area while sparing critical surrounding normal structures from late toxicity of RT. Established dose constraints for at-risk organs can only be accomplished through this novel technique of RT. However, despite advances in techniques, current treatment modalities have not significantly made an impact on survival of these patients. PMID:25926579

  5. Cancer/testis antigens and urological malignancies

    PubMed Central

    Kulkarni, Prakash; Shiraishi, Takumi; Rajagopalan, Krithika; Kim, Robert; Mooney, Steven M.; Getzenberg, Robert H.

    2012-01-01

    Cancer/testis antigens (CTAs) are a group of tumour-associated antigens (TAAs) that display normal expression in the adult testis—an immune-privileged organ—but aberrant expression in several types of cancers, particularly in advanced cancers with stem cell-like characteristics. There has been an explosion in CTA-based research since CTAs were first identified in 1991 and MAGE-1 was shown to elicit an autologous cytotoxic T-lymphocyte (CTL) response in a patient with melanoma. The resulting data have not only highlighted a role for CTAs in tumorigenesis, but have also underscored the translational potential of these antigens for detecting and treating many types of cancers. Studies that have investigated the use of CTAs for the clinical management of urological malignancies indicate that these TAAs have potential roles as novel biomarkers, with increased specificity and sensitivity compared to those currently used in the clinic, and therapeutic targets for cancer immunotherapy. Increasing evidence supports the utilization of these promising tools for urological indications. PMID:22710665

  6. Taxanes: Their Impact on Gynecologic Malignancy

    PubMed Central

    Schwab, Carlton L.; English, Diana P.; Roque, Dana M.; Santin, Alessandro D.

    2013-01-01

    The use of taxanes in the treatment of gynecologic malignancies expanded tremendously over the past 30 years. Both paclitaxel and docetaxel have unique microtubule stabilizing, antiangiogenic and radiation sensitizing properties that endow them with remarkable activity as chemotherapeutic agents. As research into the appropriate dose, timing, treatment interval and response rates have been studied, they emerged as one of the most active agents available in the treatment of gynecologic cancer. The body of research on taxanes continues to expand especially in regard to the use of taxanes in alternative formulations and in combination with newer treatments or routes of treatment. This review focuses on the development of taxanes as an effective therapy in the treatment of gynecologic cancers and data currently available in the literature regarding their efficacy. Future directions of taxane based chemotherapy in regards to ovarian, uterine and cervical cancers are also addressed. There is little doubt that taxane based chemotherapy will remain an integral part of the treatment of gynecologic cancer for the foreseeable future. PMID:24300913

  7. Febrile neutropenia in children treated for malignancy.

    PubMed

    Barton, Chris D; Waugh, Lucy K; Nielsen, Maryke J; Paulus, Stéphane

    2015-06-01

    Febrile neutropenia (FN) in children treated for malignancy is a common and direct sequela of chemotherapy. Episodes of FN can be life-threatening, and demand prompt recognition, assessment and treatment with broad spectrum antibiotics. While in the majority of episodes no causal infection is identified, 10-20% are secondary to a bloodstream infection (BSI). A reduction in episodes of BSI could be achieved through robust infection prevention strategies, such as CVL care bundles. Alongside good antimicrobial stewardship, these strategies could reduce the risk of emergent, multi-drug resistant (MDR) infections. Emerging bacterial pathogens in BSI include Viridans Group Streptococci (VGS) and Enterobacteriaceae such as Klebsiella spp. which are known for their ability to carry MDR genes. There is also increased recognition of the role of invasive fungal infection (IFI) in FN, in particular with Aspergillus spp. Novel diagnostics, including multiplex blood and respiratory polymerase chain reaction assays can identify infections early in FN, facilitating targeted therapy, and reducing unnecessary antimicrobial exposure. Given appropriate, and sensitive rapid diagnostics, potential also exists to safely inform the risk assessment of patients with FN, identifying those at low risk of complication, who could be treated in the out-patient setting. Several clinical decision rules (CDR) have now been developed and validated in defined populations, for the risk assessment of children being treated for cancer. Future research is needed to develop a universal CDR to improve the management of children with FN. PMID:25917801

  8. Impact of MYC on malignant behavior.

    PubMed

    Ott, German

    2014-12-01

    MYC, a member of the helix-loop-helix leucine zipper family of nuclear transcription factors, is a potent proto-oncogene primarily identified as the target of the t(8;14)(q24;q32) chromosome translocation in Burkitt lymphoma. Activation of the MYC gene in normal cells both results in enhanced cellular proliferation and up-regulation of pro-apoptotic pathways, reflecting the tight regulation of the molecule in the normal cellular system. In the process of transformation, these secondary inhibitory functions of the MYC molecule have to be overcome through secondary mutations of the MYC gene itself and/or by abrogating the inhibitory effects of physiological regulators and/or repressors of proliferation such as BCL2, BCL6, BLIMP1, or others. Most aggressive lymphomas, therefore, harbor additional oncogenic alterations that cooperate with MYC deregulation, with different alterations identified in human solid or hematological tumors. These alterations are likely to counteract the pro-apoptotic function of MYC. MYC gene alterations in diffuse large B-cell lymphomas and in B-cell lymphomas, unclassifiable, with features intermediate between diffuse large B-cell lymphoma and Burkitt lymphoma are frequently associated with BCL2 or/and BCL6 translocations conferring a very aggressive behavior. This review summarizes inherent factors of the biology and function of MYC important in the process of transformation, especially taking account the interdependence of MYC on various cellular networks that have to be co-deregulated to achieve the full malignant phenotype. PMID:25696841

  9. Proteome profiling of keratinocytes transforming to malignancy.

    PubMed

    Paulitschke, Verena; Gerner, Christopher; Hofstätter, Elisabeth; Mohr, Thomas; Mayer, Rupert Laurenz; Pehamberger, Hubert; Kunstfeld, Rainer

    2015-02-01

    To shed light on the multistep process of squamous cell carcinoma development and the underlying pathologic mechanisms, we performed comparative proteome analysis of keratinocytes, keratinocytes stimulated with Il-1beta, and A431 epidermoid carcinoma cells. Fractionation of the cells into supernatant, nucleus, and cytoplasm was followed by protein separation, proteolytic digest, and nano-LC separation, and fragmentation using an ion trap mass spectrometer. Specific bioinformatics tools were used to generate a list of keratinocyte-specific proteins. Ninety percent of these proteins were found to be upregulated in keratinocytes versus the A431 cells. Classification of the identified proteins by biologic function and gene set enrichment analysis revealed that keratinocytes produced more proteins involved in cell differentiation, cell adhesion, cell junction, calcium ion, calmodulin binding, cytoskeleton organization, and cytokinesis, whereas A431 produced more proteins involved in cell cycle checkpoint, cell cycle process, RNA processing and transport, DNA damage and repair, RNA and DNA binding, and chromatin remodeling. The protein signatures of A431 and normal keratinocytes treated with IL-1beta showed marked similarity, confirming that inflammation is an important step in malignant transformation in nonmelanoma skin cancer. Thus, proteome profiling and bioinformatic processing may support the understanding of the underlying mechanisms, with the potential to facilitate development of early biomarkers and patient-tailored therapy. PMID:25395074

  10. PTEN: Multiple Functions in Human Malignant Tumors

    PubMed Central

    Milella, Michele; Falcone, Italia; Conciatori, Fabiana; Cesta Incani, Ursula; Del Curatolo, Anais; Inzerilli, Nicola; Nuzzo, Carmen M. A.; Vaccaro, Vanja; Vari, Sabrina; Cognetti, Francesco; Ciuffreda, Ludovica

    2015-01-01

    PTEN is the most important negative regulator of the PI3K signaling pathway. In addition to its canonical, PI3K inhibition-dependent functions, PTEN can also function as a tumor suppressor in a PI3K-independent manner. Indeed, the PTEN network regulates a broad spectrum of biological functions, modulating the flow of information from membrane-bound growth factor receptors to nuclear transcription factors, occurring in concert with other tumor suppressors and oncogenic signaling pathways. PTEN acts through its lipid and protein phosphatase activity and other non-enzymatic mechanisms. Studies conducted over the past 10?years have expanded our understanding of the biological role of PTEN, showing that in addition to its ability to regulate proliferation and cell survival, it also plays an intriguing role in regulating genomic stability, cell migration, stem cell self-renewal, and tumor microenvironment. Changes in PTEN protein levels, location, and enzymatic activity through various molecular mechanisms can generate a continuum of functional PTEN levels in inherited syndromes, sporadic cancers, and other diseases. PTEN activity can indeed, be modulated by mutations, epigenetic silencing, transcriptional repression, aberrant protein localization, and post-translational modifications. This review will discuss our current understanding of the biological role of PTEN, how PTEN expression and activity are regulated, and the consequences of PTEN dysregulation in human malignant tumors. PMID:25763354

  11. [A case of stage IIIB2 infantile yolk sac tumor of testis achieved complete remission by "COMPE" chemotherapy].

    PubMed

    Ueda, T; Yamauchi, T; Kokuho, M; Ishibashi, K; Kawakami, S; Yonese, J; Kawai, T

    1993-12-01

    A case of metastatic infantile yolk sac tumor of testis is reported herein. The patient was 23 months old with a painless swelling of the right scrotal contents. Histological examination revealed yolk sac tumor. Six months later, the serum alpha-fetoprotein (AFP) was re-elevated and solitary lung metastasis had developed. After 4 courses of chemotherapy with cisplatin (CDDP), vincristine (VCR), methotrexate (MTX), peplomycin (PEP) and Etoposide (COMPE), serum AFP was normalized and lung metastasis disappeared. He has shown no evidence of disease for 5 years with normal physical growth. Aggressive chemotherapy including CDDP might be used for Stage III infantile testicular cancer. PMID:7506867

  12. Infantile perianal pyramidal protrusion: a case report with dermoscopy and ultrasound findings.

    PubMed

    Lamberti, Arianna; Filippou, Georgios; Adinolfi, Antonella; Fimiani, Michele; Rubegni, Pietro

    2015-04-01

    Infantile perianal pyramidal protrusion, it is a rare benign cutaneous condition described in relatively recent times. It is considered to be under-reported in the pediatric literature because it is often mistaken for other conditions. The unawareness of this lesion may be responsible for an excessive concern both in physician and in parents, which leads to overly aggressive and unnecessary treatments. Thus its recognition has many implications regarding proper management and treatment. We report a typical presentation of IPPP in which the diagnosis was based on the use of non-invasive diagnostic tools and in particular of dermoscopy and ultrasonography. PMID:26114069

  13. Olive without a cause: the story of infantile hypertrophic pyloric stenosis.

    PubMed

    Markowitz, Richard I

    2014-02-01

    For many diseases and medical conditions the clinical recognition and the development of accurate diagnostic methods and the etiological cause precede effective treatment. In the case of infantile hypertrophic pyloric stenosis (HPS), this sequence of events did not happen. Clinical recognition of the entity proceeded directly to the development of curative treatment. Reliable diagnostic imaging methods followed, but a definitive etiology has not been elucidated. This paper reviews the historical aspects of hypertrophic pyloric stenosis, discusses how and why it took so long for this not uncommon disease to be recognized, and highlights the physicians who changed an often fatal disease into an easily diagnosed and treated minor affliction. PMID:24281686

  14. Hypofibrinogenemia caused by adrenocorticotropic hormone for infantile spasms: a case report.

    PubMed

    Kamei, Atsushi; Araya, Nami; Akasaka, Manami; Mizuma, Kanako; Asami, Maya; Tanifuji, Sachiko; Chida, Shoichi

    2015-01-01

    We report the case of a 7-month-old boy who developed hypofibrinogenemia (66.6 mg/dL; reference value, 170-405 mg/dL) during adrenocorticotropic hormone (ACTH) therapy for infantile spasms. Although the patient showed no clinical signs of a bleeding diathesis, we recommend that plasma fibrinogen levels should be monitored during ACTH therapy, which should be discontinued when fibrinogen levels fall below hemostatic levels (60.0mg/dL) or when bleeding tendencies are recognized. PMID:24735983

  15. Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population.

    PubMed

    Sinigerska, Ivanka; Chandler, David; Vaghjiani, Vijesh; Hassanova, Irfet; Gooding, Rebecca; Morrone, Amelia; Kremensky, Ivo; Kalaydjieva, Luba

    2006-05-01

    The Gypsies are a trans-national founder population of Asian descent, whose genetic heritage is still incompletely characterized. Here, we describe the first founder mutation leading to a lysosomal storage disorder in this population: R59H in GLB1, which causes infantile GM1-gangliosidosis. The R59H carrier rate is approximately 2% in the general Gypsy population and approximately 10% in the Rudari sub-isolate. Haplotype analysis suggests that the Gypsy diaspora may have contributed to the spread of this mutation to South America. PMID:16466959

  16. Infantile perianal pyramidal protrusion: a case report with dermoscopy and ultrasound findings

    PubMed Central

    Lamberti, Arianna; Filippou, Georgios; Adinolfi, Antonella; Fimiani, Michele; Rubegni, Pietro

    2015-01-01

    Infantile perianal pyramidal protrusion, it is a rare benign cutaneous condition described in relatively recent times. It is considered to be under-reported in the pediatric literature because it is often mistaken for other conditions. The unawareness of this lesion may be responsible for an excessive concern both in physician and in parents, which leads to overly aggressive and unnecessary treatments. Thus its recognition has many implications regarding proper management and treatment. We report a typical presentation of IPPP in which the diagnosis was based on the use of non-invasive diagnostic tools and in particular of dermoscopy and ultrasonography. PMID:26114069

  17. Malignant mixed müllerian tumor with malignant neuroectodermal components (teratoid carcinosarcoma) of the ovary: Report of a case with clinicopathologic findings.

    PubMed

    Matsuura, Yusuke; Kitajima, Mitsuyasu; Hachisuga, Toru; Tanimoto, Akihide; Okura, Naohumi; Kihara, Ikuo

    2010-08-01

    Malignant mixed müllerian tumor (MMMT) or carcinosarcoma of the female genital tract is a rare neoplasm. Malignant ovarian tumor composed of müllerian epithelial tumor and malignant germ cell tumor is also rare, with most cases composed of endometrioid adenocarcinoma and yolk sac tumor. Ovarian MMMT with malignant neuroectodermal components resembling immature teratoma is extremely rare. We report a case of teratoid carcinosarcoma of the ovary occurring in a 40-year-old female. The resected tumor measuring over 20 cm in diameter consisted of cystic and solid components and was very fragile. Microscopic examination showed a heterogenous mixed tumor composed of malignant epithelial, malignant mesodermal and malignant neuroectodermal components. The cells of ganglioneuroblastoma-like area were positive for neural markers (Synaptophysin, S-100 protein, neuron-specific enolase). There was no tumor immunoreactivity to alpha-fetoprotein, carcinoembryonic antigen, human chorionic gonadotropin, and inhibin. In spite of aggressive combination chemotherapy and three times of laparotomy, the patient died of disease 3 years 10 months after the initial treatment. This quite rare ovarian tumor closely resembled nasopharyngeal tumors described as 'teratoid carcinosarcoma' is biologically aggressive. We report the fourth case of ovarian teratoid carcinosarcoma. Further cases need to be accumulated to make diagnosis and to determine a successful treatment modality. PMID:20666968

  18. Diffuse high-grade gliomas as second malignant neoplasms after radio-chemotherapy for pediatric malignancies

    Microsoft Academic Search

    Bernd F. M. Romeike; Yoo-Jin Kim; Wolf-Ingo Steudel; Norbert Graf

    2007-01-01

    Objects  Diffuse high-grade gliomas are known to develop in children after cranial irradiation for other malignancies. Here, clinicopathological\\u000a characteristics are outlined.\\u000a \\u000a \\u000a \\u000a Methods  Nine children received cranial irradiation and chemotherapy for medulloblastoma (n=2) or acute lymphoblastic leukemia (n=7). They developed a high-grade glioma 7–14 years thereafter. Clinical charts, radiologic findings, and pathologic specimens\\u000a were reviewed. Archival material was stained immunohistochemically.\\u000a \\u000a \\u000a \\u000a Conclusion  Gliomas evolving as second

  19. Oral malignant melanoma: A case report with review of literature.

    PubMed

    Manigandan, T; Sagar, G Vikram; Amudhan, A; Hemalatha, V T; Babu, N Aravinda

    2014-07-01

    Oral mucosal melanoma is a rare malignancy with the tendency to metastasize and locally invade tissues more readily than other malignant tumor of the oral cavity. It occurs approximately four times more frequently in the oral mucosa of the upper jaw usually on the palate or alveolar gingiva. The chameleonic presentation of malignant melanoma, its asymptomatic condition, rarity of the lesion, poor prognosis and the necessity of a highly specialized treatment are factors that should be seriously considered by the involved health care provider. Herein we report a rare and interesting case of oral malignant melanoma of the maxillary anterior gingiva, which was clinically and histopathologically diagnosed with a brief review of literature, has been discussed. PMID:25191086

  20. Malignant peritoneal mesothelioma without asbestos exposure: An ovarian cancer imitator.

    PubMed

    Grzankowski, Kassondra S; Brightwell, Rachel M; Kasznica, John M; Odusi, Kunle O

    2015-01-01

    Malignant peritoneal mesothelioma is a rare aggressive tumor with approximately 400 new cases annually in the US.•In optimal cytoreduction HIPEC is the standard treatment.•In suboptimal cytoreduction IV cisplatin and pemetrexed have high efficacy. PMID:26076085