These are representative sample records from Science.gov related to your search topic.
For comprehensive and current results, perform a real-time search at Science.gov.
1

Osteopetrosis  

PubMed Central

Osteopetrosis ("marble bone disease") is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. The overall incidence of these conditions is difficult to estimate but autosomal recessive osteopetrosis (ARO) has an incidence of 1 in 250,000 births, and autosomal dominant osteopetrosis (ADO) has an incidence of 1 in 20,000 births. Osteopetrotic conditions vary greatly in their presentation and severity, ranging from neonatal onset with life-threatening complications such as bone marrow failure (e.g. classic or "malignant" ARO), to the incidental finding of osteopetrosis on radiographs (e.g. osteopoikilosis). Classic ARO is characterised by fractures, short stature, compressive neuropathies, hypocalcaemia with attendant tetanic seizures, and life-threatening pancytopaenia. The presence of primary neurodegeneration, mental retardation, skin and immune system involvement, or renal tubular acidosis may point to rarer osteopetrosis variants, whereas onset of primarily skeletal manifestations such as fractures and osteomyelitis in late childhood or adolescence is typical of ADO. Osteopetrosis is caused by failure of osteoclast development or function and mutations in at least 10 genes have been identified as causative in humans, accounting for 70% of all cases. These conditions can be inherited as autosomal recessive, dominant or X-linked traits with the most severe forms being autosomal recessive. Diagnosis is largely based on clinical and radiographic evaluation, confirmed by gene testing where applicable, and paves the way to understanding natural history, specific treatment where available, counselling regarding recurrence risks, and prenatal diagnosis in severe forms. Treatment of osteopetrotic conditions is largely symptomatic, although haematopoietic stem cell transplantation is employed for the most severe forms associated with bone marrow failure and currently offers the best chance of longer-term survival in this group. The severe infantile forms of osteopetrosis are associated with diminished life expectancy, with most untreated children dying in the first decade as a complication of bone marrow suppression. Life expectancy in the adult onset forms is normal. It is anticipated that further understanding of the molecular pathogenesis of these conditions will reveal new targets for pharmacotherapy. PMID:19232111

Stark, Zornitza; Savarirayan, Ravi

2009-01-01

2

Association of Infantile Neuroaxonal Dystrophy and Osteopetrosis: A Rare Autosomal Recessive Disorder  

Microsoft Academic Search

The association of neuroaxonal dystrophy and osteopetrosis is reported in 2 siblings born to non-consanguineous parents. The 1 st child was diagnosed as having infantile osteopetrosis shortly after delivery. A computed tomography scan of the head revealed agenesis of the corpus callosum. She died at the age of 9 months. Post-mortem examination showed pneumonia and bony sclerosis. Neuropathological examination revealed

Henrike Rees; Lee-Cyn Ang; Robin Casey; David H. George

1995-01-01

3

Association of infantile neuroaxonal dystrophy and osteopetrosis: a rare autosomal recessive disorder.  

PubMed

The association of neuroaxonal dystrophy and osteopetrosis is reported in 2 siblings born to non-consanguineous parents. The 1st child was diagnosed as having infantile osteopetrosis shortly after delivery. A computed tomography scan of the head revealed agenesis of the corpus callosum. She died at the age of 9 months. Post-mortem examination showed pneumonia and bony sclerosis. Neuropathological examination revealed cerebral atrophy, ventricular dilation, absence of the corpus callosum, and a small hippocampus. Neuroaxonal spheroids were found in hippocampus, basal ganglia, pons, medulla, spinal cord, cranial nerves, cerebellum, and peripheral nerves. Ultrastructural examination revealed membranous cytoplasmic bodies and electron-dense granular deposits within the neuroaxonal spheroids as well as the soma of neurons. The 2nd child was delivered at 36 weeks of gestation because of intrauterine fetal distress. The diagnosis of osteopetrosis and partial agenesis of the corpus callosum was made shortly after delivery. The child died at 1 month without an autopsy. There are rare cases reported previously with the association of neuroaxonal dystrophy and osteopetrosis. We review these cases and compare them with ours. PMID:7577667

Rees, H; Ang, L C; Casey, R; George, D H

1995-01-01

4

Importance of neurological assessment before bone marrow transplantation for osteopetrosis  

Microsoft Academic Search

Neurological complications of malignant infantile osteopetrosis are well recognised; successful bone marrow transplantation, when performed early in life, can prevent or halt some of them. In a subgroup of infants osteopetrosis is associated with primary retinal degeneration and\\/or generalised neurodegeneration. Bone marrow transplantation, in spite of being successful in correcting the osseous and haematological abnormalities, does not influence the progressive

M Abinun; T Newson; P W Rowe; T J Flood; A J Cant

1999-01-01

5

Osteopetrosis mimicking juvenile myelomonocytic leukemia.  

PubMed

A 5-month-old boy developed splenomegaly, anemia, thrombocytopenia with elevated white cells, monocytosis and immature granulocytes in the peripheral blood. Bone marrow showed dysplasia without blastosis. Increased colony-forming unit-granulocyte-macrophage was found in the peripheral blood, mimicking granulocyte-macrophage colony-stimulating factor hypersensitivity. These findings fulfilled the diagnosis criteria for juvenile myelomonocytic leukemia (JMML), but no mutations in the CBL, NRAS, KRAS, or PTPN11 genes were detected. In addition to these findings severe hypogammaglobulinemia and elevated alkaline phosphatase were present. Bone X-ray showed dense and radiopaque bones with a bone-in-bone appearance characteristic of infantile malignant osteopetrosis (IMO). Genetic mutation in T-cell, immune regulator 1 (TCIRG1) was identified, confirming the diagnosis of IMO. Careful differential diagnosis including osteopetrosis, is therefore recommended in patients with clinical features and hematologic findings consistent with JMML. PMID:25335998

Hoyoux, Claire; Dresse, Marie Françoise; Forget, Patricia; Piette, Caroline; Rausin, Léon; Villa, Anna; Gothot, Andre; Florkin, Benoit

2014-10-01

6

Neurological aspects of osteopetrosis.  

PubMed

The osteopetroses are caused by reduced activity of osteoclasts which results in defective remodelling of bone and increased bone density. They range from a devastating neurometabolic disease, through severe malignant infantile osteopetrosis (OP) to two more benign conditions principally affecting adults [autosomal dominant OP (ADO I and II)]. In many patients the disease is caused by defects in either the proton pump [the a3 subunit of vacuolar-type H(+)-ATPase, encoded by the gene variously termed ATP6i or TCIRG1] or the ClC-7 chloride channel (ClCN7 gene). These pumps are responsible for acidifying the bone surface beneath the osteoclast. Although generally thought of as bone diseases, the most serious consequences of the osteopetroses are seen in the nervous system. Cranial nerves, blood vessels and the spinal cord are compressed by either gradual occlusion or lack of growth of skull foramina. Most patients with OP have some degree of optic atrophy and many children with severe forms of autosomal recessive OP are rendered blind; optic decompression is frequently attempted to prevent the latter. Auditory, facial and trigeminal nerves may also be affected, and hydrocephalus can develop. Stenosis of both arterial supply (internal carotid and vertebral arteries) and venous drainage may occur. The least understood form of the disease is neuronopathic OP [OP and infantile neuroaxonal dystrophy, MIM (Mendelian inheritance in man) 600329] which causes rapid neurodegeneration and death within the first year. Although characterized by the finding of widespread axonal spheroids and accumulation of ceroid lipofuscin, the biochemical basis of this disease remains unknown. The neurological complications of this disease and other variants are presented in the context of the latest classification of the disease. PMID:12662317

Steward, C G

2003-04-01

7

The Therapy of Infantile Malignant Brain Tumors: Current Status?  

Microsoft Academic Search

Summary  Malignant brain tumors are not uncommon in infants as their occurrence before the age of three represents 20–25% of all malignant\\u000a brain tumors in childhood [1]. Genetic predisposition to infantile malignant brain tumors are known in Gorlin syndrom for\\u000a example who\\u000a present with desmoplastic medulloblastoma in about 5% of the affected patients. In addition, sequelae from tumor and its treatment

Chantal Kalifa; Jacques Grill

2005-01-01

8

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

PubMed

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

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

2014-02-01

9

Characterization of the immunosuppression accompanying virus-induced avian osteopetrosis.  

PubMed Central

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

Smith, R E; Van Eldik, L J

1978-01-01

10

A rare case of multiple sclerosis and cerebral hemorrhage associated with osteopetrosis.  

PubMed

Osteopetrosis, or Albers-Schönberg disease, is a rare hereditary disease characterized by osteoclast dysfunction and consequent diminished bone resorption and disturbed bone building and remodeling, resulting in abnormally dense and brittle bones. Bone marrow failure, pathologic fractures, and neurologic deficits are common. Osteopetrosis is diagnosed on radiographs. Patients have generalized osteosclerosis, and radiographs may show evidence of fractures. We report a case of cerebral hemorrhage and multiple sclerosis associated with the benign adult form of osteopetrosis. PMID:19813169

Kaya, Dilaver; Tüzün, Erdem; Dinçer, Alp; Pamir, M Necmettin; Kürtüncü, Murat

2010-03-01

11

Infantile colic.  

PubMed

Infantile colic is a common problem, but it is still a cause of great stress and anxiety to the parents of a colicky baby. Dipak Kanabar believes that failure of lactose digestion has an important part to play in colic and in this bulletin he reviews the causes of infantile colic and the available management options. PMID:15160628

Kanabar, Dipak

2004-01-01

12

A prosthetic management technique for osteopetrosis affecting the maxilla.  

PubMed

Bony anatomical anomalies can complicate the construction and successful wearing of removable prostheses. Osteopetrosis is a group of diseases that affect the growth and continuous remodelling of bone which in turn can result in gross irregular alveolar bone morphology. This paper describes the management of a patient with this problem and emphasises the challenges in constructing a successful complete maxillary removable prosthesis. The utilisation of a flexible base plate material as an alternative to traditional materials will be highlighted. Irregular bony morphology is a recognised potential obstacle to the successful construction of removable prostheses. In most cases the problem can be overcome but in extreme and less common circumstances, management of these features can be more problematic. This paper describes a technique used to manage extreme alveolar irregularity which may perhaps be applied to those problems more commonly encountered in every day clinical practice but are less extreme then those described in this paper. PMID:17645071

Dewan, Karun; Bishop, Karl; Hollisey-Mclean, David

2007-06-01

13

Infantile encephalopathies  

Microsoft Academic Search

Many cases of drug-resistant infantile epilepsy (West syndrome, Lennox-Gastaut syndrome, Landau-Kleffner syndrome, severe myoclonic epilepsy, and Rasmussen’s encephalitis) were found to respond in some measure to treatments with intravenous immunoglobulins (IVIG), but relapses were common. However, as the side effects of IVIG infusion are insignificant, it is better not to deny treatment of epileptic encephalopathies to patients who have been

G. B. Cavazzuti

2003-01-01

14

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

PubMed Central

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

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

2014-01-01

15

A case of cavernous sinus thrombophlebitis and meningitis as a complication in osteopetrosis.  

PubMed

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

Chung, Hyun Chul; Park, So Hyun; Kim, Eun Sook; Kim, Young Il; Lee, Sun Ho; Nam-Goong, Il Seong

2014-08-01

16

INFANTILE PARALYSIS  

PubMed Central

At the recent Forty-fourth Annual Meetings of the American Public Health Association, Cincinnati, Ohio, there was held a Round Table Discussion on Infantile Paralysis, in which health authorities throughout the country took part. This discussion was held under the auspices of the Section on Public Health Administration. Dr. George W. Goler, Health Officer of Rochester, N. Y., Chairman of this Section, presided. We take great pleasure in being able to reproduce for readers of the Journal what took place at this most important session. PMID:18009618

1917-01-01

17

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

PubMed Central

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

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

2008-01-01

18

Infantile fibromatosis of the mandible: a case report.  

PubMed

We report an aggressive tumour in a 5-year-old girl causing facial disfigurement. Imaging confirmed a solid, diffusely enhancing mass at the right internal pterygoid muscle, infiltrating the adjacent bone. Surgical excision and reconstruction of the mandible were performed. Histology revealed aggressive infantile fibromatosis. No recurrence was noted 7 months later. Infantile fibromatosis may mimic malignancies and should be considered in aggressive mandibular soft tissue masses, in order to carefully plan biopsy and reconstructive surgery. PMID:18316509

Krokidis, M; Raissaki, M; Mantadakis, E; Giannikaki, E; Velegrakis, G; Kalmanti, M; Gourtsoyiannis, N

2008-03-01

19

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

PubMed Central

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

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

2012-01-01

20

A new osteopetrosis mutant mouse strain (ntl) with odontoma-like proliferations and lack of tooth roots  

PubMed Central

A new spontaneous mouse mutant (ntl) with autosomal-recessive osteopetrosis was characterized. These mice formed tartrate-resistant acid phosphate (TRAP)-positive osteoclasts but their osteoclasts had no ruffled border and did not resorb bone. These mice displayed no tooth eruption or tooth root formation. Adult mutant mice developed odontoma-like proliferations near the proximal ends of the incisors. Intraperitoneal injection of progenitor cells from the liver of 16.5 days postcoitum wild-type embryos into newborn mutants rescued the osteopetrosis phenotype, indicating that the defects were intrinsic to the osteoclasts. Our findings not only provide further support for a critical role of osteoclasts in tooth eruption and tooth root development, but also suggest that the perturbation of the homeostasis of the odontogenic precursors of the incisors is primarily responsible for the development of the odontoma-like proliferations in this osteopetrosis mutant. Genetic mapping has narrowed down the location of the mutant allele to a genetic interval of 3.2 cM on mouse chromosome 17. PMID:20121924

Lu, Xincheng; Rios, Hector F.; Jiang, Baichun; Xing, Lianping; Kadlcek, Renata; Greenfield, Edward M.; Luo, Guangbin; Feng, Jian Q.

2014-01-01

21

Infantile neuroaxonal dystrophy  

Microsoft Academic Search

Ultrastructural study of the biopsied sural nerve in a case of infantile neuroaxonal dystrophy was made. The characteristic change in the ballooned axons is an accumulation of membranous profiles associated with mitochondria, glycogen like granules, dense bodies, vesicles and electron lucent material. The membranous profile is classified into three morphological types and discussed on each of them. Probably tubulo-membranous profile

Masatake Shimono; Michiya Ohta; Masahiro Asada; Yoshigoro Kuroiwa

1976-01-01

22

Infantile neuroaxonal dystrophy  

Microsoft Academic Search

An unusual case of infantile neuroaxonal dystrophy (INAD) in which seizures were the presenting and predominant clinical feature is described. Although the clinical manifestations were indistinguishable from neuronal ceroid-lipofuscinosis, the diagnosis was readily established by electron microscopic examination of the brain biopsy specimen. Even after the ultrastructural features were known, the dystrophic axons were not evident by light microscopy. This

John F. Butzer; Syndney S. Schochet; William E. Bell

1975-01-01

23

Infantile neuroaxonal dystrophy  

Microsoft Academic Search

Two cases of infantile neuroaxonal dystrophy in female siblings are reported. The clinical features, with a fatal outcome within 7 years and 3 years respectively, were characterized by progressive psycho-motor retardation. The first manifestation of the disease appeared at the age of one and half years and at the age of 4 months, respectively. Light microscopy shows spheroids with a

Saburo Yagishita; Seiji Kimura

1974-01-01

24

Infantile neuroaxonale Dystrophie  

Microsoft Academic Search

The neuropathological findings of a sporadic case of infantile neuroaxonal dystrophy (InaD) are reported who died at an earlier age than any of the previously recorded ones. The patient was a boy with negative family history who showed progressive neurologic symptoms (deviation of bulbi, muscle hypotonia and quadruplegia in flexion) soon after birth and died at 6 months of age.

K. Jellinger; F. Seitelberger; W. Rosenkranz

1968-01-01

25

Infantile Neuroaxonal Dystrophy  

Microsoft Academic Search

Four cases of infantile neuroaxonal dystrophy (a familial progressive disorder of the central nervous system) are presented with clinical and pathological findings. The clinical picture is characterized by a fairly normal development of the children up to about one year of age when a standstill and regression of motor and psychic development became apparent. Some children develop a marked generalized

R. Kohn; G. Mundel; K. Wallis

1970-01-01

26

Hyperlexia in Infantile Autism.  

ERIC Educational Resources Information Center

Followup of 20 boys (from 7-17 years old) diagnosed with infantile autism revealed Ss' compulsion to decode written materials without comprehension of its meaning. Major differences in intelligence and verbal and nonverbal abilities were noted. It is suggested that the presence of hyperlexia may identify a subgroup of autistic children. (Author/CL)

Whitehouse, Dennis; Harris, James C.

1984-01-01

27

Relations between immunity and malignancy.  

PubMed

A higher incidence of malignancy as well as greater susceptibility to infection has been found to be associated with primary immunodeficiencies. An increased incidence of leukemia has been associated with X-linked infantile agammaglobulinemia-an isolated defect of humoral immunities. An increased frequency of a wide variety of malignancies have been found to accompany several different forms of primary immunodeficiency. Secondary immunodeficiencies produced by immunosuppressant therapy to facilitate renal transplantation have also been found to have far too much cancer to be explained by chance assocaition. Many experimental associations between immunity and malignancy have also been encountered, indicating that these two adaptive processes have an essential relationship that must be elucidated. PMID:4558479

Good, R A

1972-04-01

28

MRI in infantile neuroaxonal dystrophy.  

PubMed

A 6-year-old boy with the typical clinical features of infantile neuroaxonal dystrophy was examined with magnetic resonance imaging. The findings suggested increased metal deposition in the globus pallidus. Magnetic resonance imaging findings of Hallervorden-Spatz syndrome and infantile neuroaxonal dystrophy are similar, suggesting that these two disease entities overlap. Magnetic resonance imaging findings, as well as relevant clinical features, may be useful in the diagnosis and classification of infantile neuroaxonal dystrophy. PMID:2803380

Ito, M; Okuno, T; Asato, R; Mutoh, K; Nakano, S; Kataoka, K; Fujii, T; Mikawa, H; Saida, K

1989-01-01

29

Infantile sexuality in monkeys  

Microsoft Academic Search

Developmental patterns of sexuality for young male and female rhesus monkeys are illustrated. These patterns show oral, anal,\\u000a and phallic components, in a manner reminiscent of Freud's postulated stages of human psychosexual development. Unequivocal\\u000a sex differences exist at early ages. Significantly more pelvic thrusting is demonstrated by young males. Infantile female\\u000a monkeys rarely exhibit male-type behavior, and males rarely exhibit

Harry F. Harlow; Margaret K. Harlow; Ernst W. Hansen; Stephen J. Suomi

1972-01-01

30

Infantile neuroaxonal dystrophy.  

PubMed

Eight cases of late infantile neuroaxonal dystrophy are reported. In all cases, the diagnosis was made during life on the basis of the clinical picture and course, the results of neurophysiological studies and the finding of typical spheroids in cortical or peripheral (skin and conjunctival) biopsies. A review of 76 previously published cases revealed that 42 displayed a stereotyped clinical picture identical to that exhibited by our 8 patients. The most important clinical features, as they emerge from the study of these 50 cases, are those of a progressive disorder starting at the end of the first or beginning of the second year of life, progressive motor and mental deterioration bilateral pyramidal tract signs, marked hypotonia and early visual disturbances without epileptic seizures. The presence of high voltage, fast rhythms in the EEG and signs of denervation of an anterior horn-cell type at EMG, with normal nerve conduction velocities, is frequent additional evidence in favour of infantile neuroaxonal dystrophy. The finding of spheroid bodies in axonal endings seems to be constant and is necessary for an in vivo diagnosis. Spheroids can be found in peripheral tissues, for example, skin and conjunctiva, and cortical biopsy is no longer required. The spheroids, however, are not specific and both clinical and pathological features are necessary to establish a firm diagnosis. Since infantile neuroaxonal dystrophy is a recessively inherited disorder its recognition is imperative even though the nosology of the disease remains uncertain. PMID:509195

Aicardi, J; Castelein, P

1979-12-01

31

Infantile Refsum Disease: Case Report  

Microsoft Academic Search

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

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

32

[Infantile neuroaxonal dystrophy].  

PubMed

Infantile neuroaxonal dystrophy is a degenerative disease, mostly of nerve endings in the central and peripheral nervous system, with typical pathological findings. We describe a 3-year-old boy who had suffered from nystagmus, progressive muscle weakness and dementia since the age of 10 months. Biochemical work-up, MRI of the brain, and electrophysiological studies were within normal limits. Only skin biopsy, and sural nerve biopsy at a later stage, were diagnostic. We stress the importance of performing tissue biopsy even when intensive investigation is negative. PMID:1464383

Galil, A; Schiffmann, R; Neeman, Z; Porter, B

1992-11-15

33

Intracranial infantile hemangiopericytoma.  

PubMed

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

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

2014-08-01

34

Infantile hemangiomas: A review  

PubMed Central

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

Callahan, Alison B.; Yoon, Michael K.

2012-01-01

35

Malignant mesothelioma  

Microsoft Academic Search

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

Alastair J Moore; Robert J Parker; John Wiggins

2008-01-01

36

Mangement of infantile esotropia.  

PubMed

We evaluated the management of infantile esotropia-constant, alternating esotropia before 6 months of age-in 34 children. Planned one-state surgery for satisfactory mechanical alignment was highly predicatable (79 to 84%), and was obtained at any age. Stable bifoveal motor fusion was also obtained but was more frequent with alignment before 2 years of age. The use of postsurgical spectacle orthoptics (minus lenses or prisms, or both) increased the incidence of bifoveal fusion. Surgery alone resulted in bifoveal fusion in 6% of the cases, whereas an overall incidence of 33% bifoveal fusion resulted after the use of postsurgical spectacle orthoptics by some patients. Of those receiving postsurgical spectacle orthoptics, 53% obtained bifoveal fusion. This study demonstrated a correlation between the incidence of secondary A patterns (after surgery for V esotropia) and the amount of horizontal muscle surgery done in combination with bilateral inferior oblique muscle myectomies. PMID:949082

Foster, R S; Paul, T O; Jampolsky, A

1976-08-01

37

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

SciTech Connect

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.

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

38

Infantile spasms--evidence based medical management.  

PubMed

Infantile spasms constitute significant burden of refractory epilepsy in children. The first line treatment choice varies at different centres. The author presents concise evidence based update on medical management of infantile spasms. PMID:24986193

Sahu, Jitendra Kumar

2014-10-01

39

Genetics Home Reference: Infantile neuroaxonal dystrophy  

MedlinePLUS

... rare disorder. Its specific incidence is unknown. What genes are related to infantile neuroaxonal dystrophy? Mutations in the PLA2G6 gene have been identified in most individuals with infantile ...

40

Hyperlexia in infantile autism.  

PubMed

Twenty boys meeting the current DSM III criteria for infantile autism at the time of diagnosis were found to be hyperlexic in childhood and have been followed up for 7-17 years. The most striking feature of the group was the compulsion to decode written material without comprehension of its meaning, and this constituted a behavioral phenotype for this population. On word recognition tests such as the WRAT, they scored significantly higher than would be predicted on the basis of intelligence but demonstrated severe reading retardation on tests of reading comprehension such as the Gates-McGinitie. Major differences in intelligence were detected, ranging from severe mental retardation to very superior intelligence. Major differences in verbal and nonverbal abilities were also noted. Many were found to have unusually good memory, both visual and auditory, and the majority possessed an excellent stored vocabulary that could be used with written words despite the poverty of their expressive language. It is suggested that the presence of hyperlexia may identify a subgroup of autistic children. PMID:6480546

Whitehouse, D; Harris, J C

1984-09-01

41

Identification of the first deletion in the LRP5 gene in a patient with autosomal dominant osteopetrosis type I.  

PubMed

In the last decade, the low-density lipoprotein receptor-related protein 5 (LRP5) gene, coding for a coreceptor in the canonical Wnt signalling pathway, has been shown to play an important role in regulating bone mass and to be involved in the pathogenesis of several bone disorders. Here we describe a patient who presented with a clinical picture of Autosomal Dominant Osteopetrosis type I (ADO I), in whom we could identify the first deletion in the LRP5 gene causing increased bone mass. This mutation caused the in-frame deletion of two amino acids in the fourth blade of the first propeller of the protein, namely the highly conserved glycine at position 171 and the following glutamate residue. In vitro studies suggested that the pathogenic effect of this novel mutation could be due to a decreased inhibition of Wnt signalling by the antagonistic proteins sclerostin and Dickkopf-1, encoded respectively by the SOST and DKK1 genes, in the presence of mutated LRP5. Our results highlight an increasing molecular heterogeneity in LRP5-related bone diseases. PMID:21600326

Pangrazio, Alessandra; Boudin, Eveline; Piters, Elke; Damante, Giuseppe; Lo Iacono, Nadia; D'Elia, Angela Valentina; Vezzoni, Paolo; Van Hul, Wim; Villa, Anna; Sobacchi, Cristina

2011-09-01

42

Identification of the first deletion in the LRP5 gene in a patient with Autosomal Dominant Osteopetrosis type I  

PubMed Central

In the last decade, the low-density lipoprotein receptor-related protein 5 (LRP5) gene, coding for a coreceptor in the canonical Wnt signalling pathway, has been shown to play an important role in regulating bone mass and to be involved in the pathogenesis of several bone disorders. Here we describe a patient who presented with a clinical picture of Autosomal Dominant Osteopetrosis type I (ADO I), in whom we could identify the first deletion in the LRP5 gene causing increased bone mass. This mutation caused the in-frame deletion of two amino acids in the fourth blade of the first propeller of the protein, namely the highly conserved glycine at position 171 and the following glutamate residue. In vitro studies suggested that the pathogenic effect of this novel mutation could be due to a decreased inhibition of Wnt signalling by the antagonistic proteins sclerostin and Dickkopf-1, encoded respectively by the SOST and DKK1 genes, in the presence of mutated LRP5. Our results highlight an increasing molecular heterogeneity in LRP5-related bone diseases. PMID:21600326

Pangrazio, Alessandra; Boudin, Eveline; Piters, Elke; Damante, Giuseppe; Iacono, Nadia Lo; D'Elia, Angela Valentina; Vezzoni, Paolo; Van Hul, Wim; Villa, Anna; Sobacchi, Cristina

2011-01-01

43

Pediatric Malignancies  

Microsoft Academic Search

\\u000a Outcomes in many pediatric tumors have improved dramatically over the last few decades. Eighty percent of all children diagnosed\\u000a today with childhood malignancies are expected to be long-term survivors [1]. The number of long-term survivors in almost\\u000a every disease site and histology has increased with advancements in combined modality therapy such that a new era in cancer\\u000a therapy, treatment de-intensification

Nadia N. Issa Laack; Paula J. Schomberg; Suzanne Wolden; Jesus Vazquez

44

Infantile neuroaxonal dystrophy (Seitelberger's disease)  

Microsoft Academic Search

An autopsy case of 4 2\\/3 year-old male child with the typical features of infantile neuroaxonal dystrophy was described. His parents were consanguineous (second cousins), but no history of neurological disorder was found in his family. The most characteristic pathological features were found in the central nervous system and may be summarized in the following three groups; 1. the presence

Yoshio Takei

1965-01-01

45

Obesidade infantil: excessos na sociedade  

Microsoft Academic Search

1 Resumo: A obesidade representa um grave problema de saúde pública, caracterizada por um contexto de epidemia mundial. A especificidade da obesidade infantil se estabelece a partir das conseqüências físicas e emocionais da doença, além da elevação dos riscos da moléstia na vida adulta. Através de encontros grupais com familiares de crianças obesas, identificaram-se aspectos relevantes na vida social que

Andréia Mendes dos Santos

46

Social class and infantile autism  

Microsoft Academic Search

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

Christopher Gillberg; Helen Schaumann

1982-01-01

47

Infantile convulsions with mild gastroenteritis  

Microsoft Academic Search

The development of sensitive new molecular genetic techniques has led to the detection of rotavirus in cerebrospinal fluid, stools and throat swabs from patients with gastroenteritis with accompanying clinical symptoms similar to infantile benign convulsions. Small round structured virus (SRSV) has also been found in stools of patients with similar clinical symptoms by a new procedure. However, the mechanism by

Toshiaki Abe; Masaaki Kobayashi; Kazuko Araki; Hiroko Kodama; Yasuko Fujita; Tatsuhiko Shinozaki; Hiroshi Ushijima

2000-01-01

48

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 ...

49

Clinical Features: Patients with Infantile Neuroaxonal Dystrophy (INAD) [OMIM #256600] have infantile onset of progressive  

E-print Network

1/08 Clinical Features: Patients with Infantile Neuroaxonal Dystrophy (INAD) [OMIM #256600] have Laboratories PLA2G6 analysis for Infantile Neuroaxonal Dystrophy #12;1/08 Results You will be informed Genet, 38(7):752-754. 3. Khateeb, S., et al. "PLA2G6 mutation underlies infantile neuroaxonal dystrophy

Das, Soma

50

Clinical Features: Patients with Infantile Neuroaxonal Dystrophy (INAD) [OMIM #256600] have infantile onset of progressive  

E-print Network

6/11 Clinical Features: Patients with Infantile Neuroaxonal Dystrophy (INAD) [OMIM #256600] have for Infantile Neuroaxonal Dystrophy #12;6/11 Testing for a known mutation in additional family members infantile onset of progressive neurodegeneration characterized by hypotonia, spasticity, hyperreflexia

Gilad, Yoav

51

Infantile neuroaxonal dystrophy (Seitelberger's disease)  

Microsoft Academic Search

The findings in a case of infantile neuroaxonal dystrophy are presented. Light microscopy shows wide distribution of spheroids, cerebellar atrophy and striatal degeneration. Electron microscopy shows numerous spheroids consisting of tubulo-vesiculo-membranous profiles. The dystrophic changes appear first in the axon terminals, extend proximally and in the proximal axons seem to be modified by axostasis and\\/or transneuronal degeneration in addition to

Saburo Yagishita; Seiji Kimura

1975-01-01

52

Targeted disruption of leucine-rich repeat kinase 1 but not leucine-rich repeat kinase 2 in mice causes severe osteopetrosis.  

PubMed

To assess the roles of Lrrk1 and Lrrk2, we examined skeletal phenotypes in Lrrk1 and Lrrk2 knockout (KO) mice. Lrrk1 KO mice exhibit severe osteopetrosis caused by dysfunction of multinucleated osteoclasts, reduced bone resorption in endocortical and trabecular regions, and increased bone mineralization. Lrrk1 KO mice have lifelong accumulation of bone and respond normally to the anabolic actions of teriparatide treatment, but are resistant to ovariectomy-induced bone boss. Precursors derived from Lrrk1 KO mice differentiate into multinucleated cells in response to macrophage colony-stimulating factor (M-CSF)/receptor activator of NF-?B ligand (RANKL) treatment, but these cells fail to form peripheral sealing zones and ruffled borders, and fail to resorb bone. The phosphorylation of cellular Rous sarcoma oncogene (c-Src) at Tyr-527 is significantly elevated whereas at Tyr-416 is decreased in Lrrk1-deficient osteoclasts. The defective osteoclast function is partially rescued by overexpression of the constitutively active form of Y527F c-Src. Immunoprecipitation assays in osteoclasts detected a physical interaction of Lrrk1 with C-terminal Src kinase (Csk). Lrrk2 KO mice do not show obvious bone phenotypes. Precursors derived from Lrrk2 KO mice differentiate into functional multinucleated osteoclasts. Our finding of osteopetrosis in Lrrk1 KO mice provides convincing evidence that Lrrk1 plays a critical role in negative regulation of bone mass in part through modulating the c-Src signaling pathway in mice. PMID:23526378

Xing, Weirong; Liu, Jeff; Cheng, Shaohong; Vogel, Peter; Mohan, Subburaman; Brommage, Robert

2013-09-01

53

Malignant melanoma of nose.  

PubMed

Malignant melanoma (MM) is one of the uncommon malignancies of the nose. We present an unusually big proliferative like MM in the vestibule of the nose. Malignancy of nose constitutes less than 1% of all malignancies (3% of head & neck tumour). MM however contributes only 2% of all malignant neoplasms of the nose (Moore & Martin. 1955). PMID:23119756

Kundu, I N; Haldar, B; Saha, A K

2001-01-01

54

Neuroimaging findings in infantile GM1 gangliosidosis  

Microsoft Academic Search

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.

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

2006-01-01

55

Hypothesis: the metastatic niche theory can elucidate infantile hemangioma development.  

PubMed

Recent advances in the understanding of the metastatic phenomenon in cancer have led to the description of a metastatic niche. This concept describes a site prepared for the tumor cells in areas frequently associated with metastasis for the individual tumor studied. This niche is a "soil" that allows for the tumor cell or "seed" to lodge and grow. Certain aspects of the biology of infantile hemangioma cells suggest a relationship to the placenta as a possible site of origin for the hemangioma precursor cells. In this article, a relationship between the placenta, with or without a chorangioma and the hemangioma sites of localization, is hypothesized. The placenta is suggested as the site of humoral factors that prepare a niche similar to the function of malignant tumor cells. If the hypothesis proves to be valid, clues for possible treatment are outlined. PMID:20482680

Mihm, Martin C; Nelson, J Stuart

2010-04-01

56

Malignant hyperthermia.  

PubMed

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

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

2007-01-01

57

Genetics Home Reference: Infantile systemic hyalinosis  

MedlinePLUS

... and Families Resources for Health Professionals What glossary definitions help with understanding infantile systemic hyalinosis? autosomal ; autosomal ... prevalence ; protein ; recessive ; tissue ; wasting You may find definitions for these and many other terms in the ...

58

Clinical Features: Patients with Infantile Neuroaxonal Dystrophy (INAD) [OMIM #256600] have infantile onset of progressive  

E-print Network

1/13 Clinical Features: Patients with Infantile Neuroaxonal Dystrophy (INAD) [OMIM #256600] have Neuroaxonal Dystrophy #12;1/13 Testing for a known mutation in additional family members by sequence analysis infantile onset of progressive neurodegeneration characterized by hypotonia, spasticity, hyperreflexia

Ober, Carole

59

Contact inhibition and malignancy  

Microsoft Academic Search

The role of contact inhibition in influencing the behaviour of malignant cells is discussed in a review. Although tissue culture cannot simulate the immense complexity of the conditions in vivo, some of the distinctive features of malignant invasion can be conveniently observed with this technique. The evidence derived from this technique indicates that defective contact inhibition of movement of malignant

M. Abercrombie

1979-01-01

60

Stages of Malignant Mesothelioma  

MedlinePLUS

... cells. The disease is metastatic malignant mesothelioma, not brain cancer. The following stages are used for malignant mesothelioma: ... distant parts of the body such as the brain, spine, thyroid , or prostate . Recurrent Malignant ... mesothelioma is cancer that has recurred (come back) after it has ...

61

Genetics Home Reference: Infantile-onset ascending hereditary spastic paralysis  

MedlinePLUS

... with a small number of reported cases. What genes are related to infantile-onset ascending hereditary spastic paralysis? Mutations in the ALS2 gene cause infantile-onset ascending hereditary spastic paralysis. The ...

62

Precursors to Lymphoproliferative Malignancies  

PubMed Central

We review monoclonal B-cell lymphocytosis (MBL) as a precursor to chronic lymphocytic leukemia and monoclonal gammopathy of undetermined significance (MGUS) as a precursor to plasma cell disorders. These conditions are present in the general population and increase with age. These precursors aggregate with lymphoproliferative malignancies in families suggesting shared inheritance. MBL and MGUS may share some of the same risk factors as their related malignancies but data are limited. While these conditions are characterized by enhanced risk for the associated malignancy, the majority of individuals with these conditions do not progress to malignancy. A key focus for current work is to identify markers that predict progression to malignancy. PMID:23549397

Goldin, Lynn R.; McMaster, Mary L.; Caporaso, Neil E.

2013-01-01

63

Terminal axon pathology in infantile neuroaxonal dystrophy.  

PubMed

In order to clarify the pathogenesis of infantile neuroaxonal dystrophy, ultrastructural studies of the terminal and nonterminal axons of motor and autonomic nerves in muscle and skin, of which structures are much simpler than those of the central nervous system, were performed in 5 patients affected by infantile neuroaxonal dystrophy. The primary lesion was located in the axon terminal; the majority of terminal axons were dystrophic with tubulo-membranous profiles, while there were only a few dystrophic axons in the nonterminal axons. According to these findings, it is logical to consider that interruption of axonal transport at the site of the "turnaround" process is a cause of dystrophic change of the terminal axon in infantile neuroaxonal dystrophy. PMID:2059251

Kimura, S

1991-01-01

64

Infantile Spasm: A Review Article  

PubMed Central

Objective Infantile spasm (IS) is a convulsive disease characterized by brief, symmetric axial muscle contraction (neck, trunk, and/or extremities). IS is a type of seizure that was first described by West in 1841, who witnessed the seizure in his own son. West’s syndrome refers to the classic triad of spasms, characteristic EEG, and neurodevelopmental regression. Most cases involve flexors and extensors, but either of the types may be involved independently. IS, as its name implies, most often occurs during the first year of life with an incidence of approximately 1 per 2000-4000 live births. Most, but not all, patients with this disorder have severe EEG abnormalities; this pattern was originally referred to as hypsarrhythmia by Gibbs and Gibbs. Cases with known etiology or signs of brain damage are considered as symptomatic. The Overall prognosis of the disease is poor. Peak onset age of the epileptic syndrome is 3 to 7 months, which mainly occurs before 2 years of age in 93% of patients. Hypsarrhythmia is the EEG hallmark of IS, which comprised a chaotic, bilaterally asynchronous high-voltage polyspike, and slow wave discharges interspersed with multifocal spikes and slow waves. Etiological classification is as follows: 1) Symptomatic: with identifiable prenatal, perinatal, and postnatal causes with developmental delay at the presentation time; 2) Cryptogenic: unknown underlying cause, normal development at the onset of spasms, normal neurological exam and neuroimaging, and no abnormality in the metabolic evaluation; 3) Idiopathic: pure functional cerebral dysfunction with complete recovery, no residual dysfunction, normal neuroimaging and normal etiologic evaluation, and normal neurodevelopment. PMID:25143766

TAGHDIRI, Mohammad Mahdi; NEMATI, Hamid

2014-01-01

65

Malignant melanoma in children  

Microsoft Academic Search

Background: Cutaneous melanoma is an uncommon malignancy in children and for this reason, there is little information available regarding\\u000a the timing and patterns of recurrence in children with this disease. This study reviews the experience at a single institution\\u000a (Duke University Melanoma Clinic) in treating children with malignant melanoma.\\u000a \\u000a \\u000a \\u000a Methods: Eighty-five patients ?18 years of age with malignant melanoma have

Andrew M. Davidoff; Constance Cirrincione; Hilliard F. Seigler

1994-01-01

66

Rheumatic Diseases and Malignancies  

PubMed Central

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

BOJINCA, Violeta; JANTA, Iustina

2012-01-01

67

Infantile neuroaxonal dystrophy or Seitelberger's disease  

Microsoft Academic Search

The autonomic nervous system is studied by electron microscopy for the first time in two siblings born of North African consanguineous parents and affected by infantile neuroaxonal dystrophy. The changes already reported in dystrophic axons of the central and peripheral nervous system, are seen in the myenteric plexus of rectum mucosa. The authors stress the diffuse involvement of the nervous

Madeleine Berard-Badier; M. Toga; D. Gambarelli; J. Hassoun; J. F. Pellissier; N. Pinsard; R. Bernard

1974-01-01

68

Ultrastructural muscle pathology in infantile neuroaxonal dystrophy.  

PubMed

Ultrastructural examination of muscle in infantile neuroaxonal dystrophy (INAD) revealed intramuscular cytoplasmic bodies, fibrous bodies and concentric laminated bodies. Although these intramuscular inclusions have been reported in various conditions and thus are considered to be non-specific changes, this is the first report of observing them in INAD. PMID:3239699

Kimura, S; Sasaki, Y

1988-01-01

69

Seitelberger’s Infantile Neuroaxonal Dystrophy  

Microsoft Academic Search

A case of Seitelberger’s infantile neuroaxonal dystrophy is reported. The histopathological features comprise a large amount of axonal spheroids, mainly in the gray matter of the CNS, associated with complex systemic degenerations involving the long tracts, the visual system, the cerebellum and the basal ganglia. The pathological picture of the disease is essentially that of a dying back degeneration involving

Nicola Rizzuto; Mara Vio; Loretta Ghersini; F. Panizzon

1973-01-01

70

New enzymatic findings in infantile neuroaxonal dystrophy  

Microsoft Academic Search

Two siblings with infantile neuroaxonal dystrophy (INAD) exhibited highly increased activity of nonspecific esterase (resistant to physostigmine and sensitive to organophosphates) topically correlating with the morphological manifestations of the disease (spheroids), confined in those two particular cases to the central nervous system (CNS). This is demonstrated for the first time. NADH tetrazolium reductase was another enzyme noted with increased activity

M. Elleder; A. Jirflsek

1983-01-01

71

Infantile Refsum disease: an inherited peroxisomal disorder  

Microsoft Academic Search

Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly, failure to thrive and hypocholesterolaemia. Initially, only an accumulation of phytanic acid was thought to be present. More recent findings showed a biochemical profile very similar to that found in classical Zellweger syndrome or neonatal adrenoleukodystrophy. Morphologically typical peroxisomes were

B. T. Poll-The; J. M. Saudubray; H. A. M. Ogier; M. Odièvre; J. M. Scotto; L. Monnens; L. C. P. Govaerts; F. Roels; A. Cornelis; R. B. H. Schutgens; R. J. A. Wanders; A. W. Schram; J. M. Tager

1987-01-01

72

Best age for surgery for infantile esotropia  

Microsoft Academic Search

Infantile esotropia (IE) is defined as an esotropia before the age of 6 months, with a large angle, latent nystagmus, dissociated vertical deviation, limitation of abduction, and reduced binocular vision, without neurological disorder. Prematurity, low birth weight, and low Apgar scores are significant risk factors for IE. US standard age of first surgery is 12–18 months, in Europe 2–3 years.

H. J. Simonsz; G. H. Kolling

2011-01-01

73

Infantile Subdural Hematomas due to Traffic Accidents  

Microsoft Academic Search

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,

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

2002-01-01

74

Infantile hypertrophic pyloric stenosis: myopathic type  

Microsoft Academic Search

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

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

1990-01-01

75

Changing trends in characteristics of infantile hydronephrosis  

PubMed Central

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

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

2014-01-01

76

Infantile Amnesia: Forgotten but Not Gone  

ERIC Educational Resources Information Center

Unlike adult memories that can be remembered for many years, memories that are formed early in life are more fragile and susceptible to being forgotten (a phenomenon known as "infantile" or "childhood" amnesia). Nonetheless, decades of research in both humans and nonhuman animals demonstrate the importance of early life…

Li, Stella; Callaghan, Bridget L.; Richardson, Rick

2014-01-01

77

Familial malignant melanoma  

SciTech Connect

Characteristics associated with familial compared with nonfamilial malignant melanoma were assessed. These data were obtained from consecutive prospectively completed questionnaires on 1169 cases of cutaneous malignant melanoma. Of these, 69 patients indicated a positive family history for this cancer. Among the various clinical and histological variables compared, those that significantly correlated with the familial occurrence of malignant melanoma include younger age at first diagnosis, smaller diameter of the lesion, lower Clark level, decreased frequency of nonmelanoma skin cancer, and reduced prevalence of noncutaneous cancer. Increased awareness of malignant melanoma among family members could account for some of these observations. Identification of the familial variety of malignant melanoma has practical implications concerning early detection and prompt intervention.

Kopf, A.W.; Hellman, L.J.; Rogers, G.S.; Gross, D.F.; Rigel, D.S.; Friedman, R.J.; Levenstein, M.; Brown, J.; Golomb, F.M.; Roses, D.F.; Gumport, S.L.

1986-10-10

78

Structure-based development of a receptor activator of nuclear factor-?B ligand (RANKL) inhibitor peptide and molecular basis for osteopetrosis  

PubMed Central

The receptor activator of nuclear factor-?B (RANK) and its ligand RANKL, which belong to the tumor necrosis factor (TNF) receptor-ligand family, mediate osteoclastogenesis. The crystal structure of the RANKL ectodomain (eRANKL) in complex with the RANK ectodomain (eRANK) combined with biochemical assays of RANK mutants indicated that three RANK loops (Loop1, Loop2, and Loop3) bind to the interface of a trimeric eRANKL. Loop3 is particularly notable in that it is structurally distinctive from other TNF-family receptors and forms extensive contacts with RANKL. The disulfide bond (C125-C127) at the tip of Loop3 is important for determining the unique topology of Loop3, and docking E126 close to RANKL, which was supported by the inability of C127A or E126A mutants of RANK to bind to RANKL. Inhibitory activity of RANK mutants, which contain loops of osteoprotegerin (OPG), a soluble decoy receptor to RANKL, confirmed that OPG shares the similar binding mode with RANK and OPG. Loop3 plays a key role in RANKL binding. Peptide inhibitors designed to mimic Loop3 blocked the RANKL-induced differentiation of osteoclast precursors, suggesting that they could be developed as therapeutic agents for the treatment of osteoporosis and bone-related diseases. Furthermore, some of the RANK mutations associated with autosomal recessive osteopetrosis (ARO) resulted in reduced RANKL-binding activity and failure to induce osteoclastogenesis. These results, together with structural interpretation of eRANK-eRANKL interaction, provided molecular understanding for pathogenesis of ARO. PMID:21059944

Ta, Hai Minh; Nguyen, Giang Thi Tuyet; Jin, Hye Mi; Choi, Jongkeun; Park, Hyejin; Kim, Nacksung; Hwang, Hye-Yeon; Kim, Kyeong Kyu

2010-01-01

79

Dysosteosclerosis Presents as an "Osteoclast-Poor" Form of Osteopetrosis: Comprehensive Investigation of a 3-Year-Old Girl and Literature Review  

PubMed Central

Dysosteosclerosis (DSS), an extremely rare dense bone disease, features short stature and fractures and sometimes optic atrophy, cranial nerve palsy, developmental delay, and failure of tooth eruption in infancy or early childhood consistent with osteopetrosis (OPT). Bone histology during childhood shows unresorbed primary spongiosa from deficient osteoclast action. Additionally, there is remarkable progressive flattening of all vertebrae and, by adolescence, paradoxical metaphyseal osteopenia with thin cortical bone. Reports of consanguinity indicate autosomal recessive inheritance, yet more affected males than females suggest X-linked recessive inheritance. We investigated a nonconsanguineous girl with DSS. Osteosclerosis was discovered at age 7 months. Our studies, spanning ages 11 to 44 months, showed weight at approximately 50th percentile, and length diminishing from approximately 30th percentile to –2.3 SD. Head circumference was +4 SD. The patient had frontal bossing, blue sclera, normal teeth, genu valgum, and unremarkable joints. Radiographs showed orbital and facial sclerosis, basilar thickening, bone-in-bone appearance of the pelvis, sclerotic long bone ends, and fractures of ribs and extremities. Progressive metaphyseal widening occurred as vertebrae changed from ovoid to flattened and became beaked anteriorly. A hemogram was normal. Consistent with OPT, serum parathyroid hormone (PTH) concentrations reflected dietary calcium levels. Serum bone alkaline phosphatase, osteocalcin, and TRACP-5b were subnormal. The iliac crest contained excessive primary spongiosa and no osteoclasts. No mutations were identified in the splice sites or exons for the genes encoding chloride channel 7, T-cell immune regulator 1, OPT-associated transmembrane protein 1, and monocyte colony-stimulating factor (M-CSF) and its receptor C-FMS, ANKH, OPG, RANK, and RANKL. Genomic copy-number microarray was unrevealing. Hence, DSS is a distinctive OPT of unknown etiology featuring osteoclast deficiency during early childhood. How osteopenia follows is an enigma of human skeletal pathobiology. © 2010 American Society for Bone and Mineral Research. PMID:20499338

Whyte, Michael P; Wenkert, Deborah; McAlister, William H; Novack, Deborah V; Nenninger, Angie R; Zhang, Xiafang; Huskey, Margaret; Mumm, Steven

2010-01-01

80

Management of Infantile Hemangiomas: Current Trends  

PubMed Central

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

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

2014-01-01

81

Gynecologic malignancy in pregnancy  

PubMed Central

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

Ji, Yong Il

2013-01-01

82

Localized malignant pleural mesothelioma.  

PubMed

Localized malignant pleural mesothelioma (LMPM) is a rare tumor; previously only 52 cases have been reported in the English literature. This type of tumor should be distinguished from diffuse malignant pleural mesothelioma, because a good outcome may be obtained by surgical resection. We report a case of LMPM which grew rapidly within 1 year. Surgical resection was performed, and at present, 6 months since the operation, the patient remains free of the disease. PMID:22566254

Nakano, Takayuki; Hamanaka, Rurika; Oiwa, Kana; Nakazato, Kenei; Masuda, Ryota; Iwazaki, Masayuki

2012-07-01

83

Thoracic Malignancy Steering Committee  

Cancer.gov

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

84

Infantile neuroaxonal dystrophy in an albino girl  

Microsoft Academic Search

We present a cliniconeuropathologic study of infantile neuroaxonal dystrophy (INAD) in a 5-year-old Black girl with albinism. The clinical picture shows progressive psychomotor deterioration, beginning after 1 year of age, with hypotonia, pyramidal signs, optic atrophy, and deafness. Light-microscopic examination of the brain reveals wide distribution of spheroids, cerebellar atrophy, and neuronal loss with astrocytosis. This is the first described

K. E. Wisniewski; M. Laure-Kamionowska; J. Sher; J. Pitter

1985-01-01

85

Rectal biopsy findings in infantile neuroaxonal dystrophy.  

PubMed

A 21-month-old boy with a family history of parental consanguinity and two siblings having died of a progressive neurological disorder was investigated for a neurometabolic disease because of recent loss of gait and lack of intellectual progress. While a lysosomal disease could not be verified, his clinical findings were compatible with infantile neuroaxonal dystrophy, the diagnosis of which was electron microscopically established by demonstrating typical enlarged axonal terminals in rectal biopsy tissue. PMID:7207709

Goebel, H H; Kohlschütter, A; Schulte, F J

1980-11-01

86

Infantile neuroaxonal dystrophy: diagnosis by skin biopsy.  

PubMed

A child who shows progressive motor and mental deterioration after the first year of life, who has pyramidal signs, marked muscle hypotonia, but no seizures, suggests to have infantile neuroaxonal dystrophy (INAD). Beyond the age of two years, the EEG also entails characteristic findings. Diagnosis may be obtained by an ultrastructural examination of biopsied skin. The respective clinical and morphological findings are recorded and illustrated from four patients in this report. PMID:1659791

Ozmen, M; Cali?kan, M; Goebel, H H; Apak, S

1991-07-01

87

[Early infantile autism and its biochemistry].  

PubMed

In the first part of this paper the different orientations of biochemical research in early infantile autism are recalled. The most significant results of these studies concerning the dopaminergic, noradrenergic and indolaminergic (serotonin, efflux, uptake) systems as well as the various enzymatic complexes are also reviewed. In the second part, the methodologic problems which arise in biochemical research in the field of autism are addressed. PMID:6312602

Ferrari, P; Bursztejn, C

1983-09-22

88

[Malignant nail tumors].  

PubMed

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

Haneke, E

2014-04-01

89

Cytoplasmic expression of Wilms tumor transcription factor-1 (WT1): a useful immunomarker for young-type fibromatoses and infantile fibrosarcoma.  

PubMed

There is increasing evidence that Wilms' tumor transcription factor-1 (WT1) is expressed in the cytoplasm of neoplastic cells from different benign and malignant tumors. Only a few studies on WT1 cytoplasmic immunolocalization are available in pediatric tumors. The aim of the present study was to investigate immunohistochemically the expression and distribution of WT1 in a large series of soft tissue fibroblastic/myofibroblastic lesions occurring in children and adolescents. Notably WT1 was not expressed in nodular fasciitis and desmoid-type (adult) fibromatosis, while it stained diffusely and strongly in several infantile-type fibromatoses, such as fibrous hamartoma of infancy, myofibroma/myofibromatosis, and lipofibromatosis. Interestingly, WT1 cytoplasmic expression was also found in all cases (10/10) of infantile fibrosarcomas examined. The present study shows that a diffuse WT1 cytoplasmic expression is of complementary diagnostic value to conventional myofibroblastic markers (?-smooth muscle actin; desmin) in confirming diagnosis of young-type fibromatoses or infantile fibrosarcoma and in ruling out both desmoid-type fibromatoses and nodular fasciitis. WT1 cytoplasmic expression in infantile fibrosarcoma is a novel finding which could be exploitable as an immunomarker for this tumor. Although highly sensitive, WT1 cytoplasmic immunostaining is not specific for infantile fibrosarcoma, and thus it should be evaluated in the context of a wide immunohistochemical panel when pathologists are dealing with spindle cell lesions of soft tissues in children and adolescents. Accordingly we recommend that a correct diagnosis of fibroblastic/myofibroblastic soft tissue lesion in pediatric patients is usually achieved on the basis of a careful correlation of morphological and immunohistochemical findings in the appropriate clinical context. The different cellular localization of WT1, namely nuclear, cytoplasmic or nucleo-cytoplasmic, in different benign and malignant tumors supports the hypothesis that this transcription factor plays a complex role in tumorigenesis, likely as a chameleon protein functioning as either a tumor suppressor gene or an oncogene, depending on cellular context. PMID:25005570

Magro, Gaetano; Salvatorelli, Lucia; Vecchio, Giada Maria; Musumeci, Giuseppe; Rita, Alaggio; Parenti, Rosalba

2014-09-01

90

Physiological Regulation and Infantile Anorexia: A Pilot Study  

ERIC Educational Resources Information Center

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

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

2004-01-01

91

Infantile Methemoglobinemia: Reexamining the Role of Drinking Water Nitrates  

Microsoft Academic Search

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

Alexander Austin Avery

92

Hemostasis and malignancy.  

PubMed

There is considerable evidence that the hemostatic system is involved in the growth and spread of malignant disease. There is an increased incidence of thromboembolic disease in patients with cancers and hemostatic abnormalities are extremely common in such patients. Antihemostatic agents have been successfully used to treat a variety of experimental tumors, and several clinical trials in humans have been initiated. Although metastasis is undoubtedly multifactorial, intravascular coagulation activation and peritumor fibrin deposition seem to be important. The mechanisms by which hemostatic activation facilitates the malignant process remain to be completely elucidated. Of central importance may be the presence on malignant cells of tissue factor and urokinase receptor. Recent studies have suggested that these proteins, and others, may be involved at several stages of metastasis, including the key event of neovascularization. Tissue factor, the principal initiator of coagulation, may have additional roles, outside of fibrin formation, that are central to the biology of some solid tumors. PMID:9579631

Francis, J L; Biggerstaff, J; Amirkhosravi, A

1998-01-01

93

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

PubMed

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

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

2012-07-01

94

Surveillance for gastrointestinal malignancies  

PubMed Central

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

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

2012-01-01

95

Angiotropic metastatic malignant melanoma.  

PubMed

Three years after excision of a primary malignant melanoma from the lower back, a mass was noted in the right scapular region of a 51-year-old man. Histopathology revealed a malignant spindle-cell neoplasm invading the wall of a deep cutaneous blood vessel. Immunohistochemistry confirmed the diagnosis of angiotropic metastatic melanoma and ruled out primary leiomyosarcoma. Angiotropism is a rare pattern of metastasis of melanoma; the biochemical mechanisms that permit melanoma cells to undergo hematogenous dissemination, and the favorable milieu that the vascular wall offers for melanoma cells, may be responsible for this unusual growth pattern. PMID:7695012

Shea, C R; Kline, M A; Lugo, J; McNutt, N S

1995-02-01

96

Immunotherapy of Genitourinary Malignancies  

PubMed Central

Most cancer patients are treated with some combination of surgery, radiation, and chemotherapy. Despite recent advances in local therapy with curative intent, chemotherapeutic treatments for metastatic disease often remain unsatisfying due to severe side effects and incomplete long-term remission. Therefore, the evaluation of novel therapeutic options is of great interest. Conventional, along with newer treatment strategies target the immune system that suppresses genitourinary (GU) malignancies. Metastatic renal cell carcinoma and non-muscle-invasive bladder caner represent the most immune-responsive types of all human cancer. This review examines the rationale and emerging evidence supporting the anticancer activity of immunotherapy, against GU malignancies. PMID:22481927

Inamoto, Teruo; Azuma, Haruhito

2012-01-01

97

Probiotics for infantile colic: a systematic review  

PubMed Central

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

2013-01-01

98

Looking for new treatments of Infantile Colic.  

PubMed

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

Savino, Francesco; Ceratto, Simone; De Marco, Angela; Cordero di Montezemolo, Luca

2014-01-01

99

Fatal infantile form of muscle phosphofructokinase deficiency.  

PubMed

We studied a girl with an infantile syndrome of limb weakness, seizures, cortical blindness, and corneal opacifications; she died at age 7 months of respiratory failure. There was no consanguinity or family history of neuromuscular diseases. Histochemical and biochemical studies of muscle showed mildly increased glycogen content and markedly decreased PFK activity (1.4% of the normal mean). Anaerobic glycolysis in vitro confirmed the metabolic block. Immunofluorescence and immunotitration by ELISA using monoclonal antibodies against subunit M of PFK showed a normal amount of cross-reacting material. The brain showed typical features of neuroaxonal dystrophy. This variant of PFK deficiency may be due to a distinct genetic defect. PMID:2945125

Servidei, S; Bonilla, E; Diedrich, R G; Kornfeld, M; Oates, J D; Davidson, M; Vora, S; DiMauro, S

1986-11-01

100

Cerebellar hypoperfusion in infantile neuroaxonal dystrophy.  

PubMed

An identical abnormal pattern was detected by means of (99m)Tc-hexamethyl-propyleneamine-oxime single-photon emission computed tomography in two siblings with infantile neuroaxonal dystrophy. The markedly decreased cerebellar perfusion, along with the early motor symptoms, characteristic magnetic resonance imaging and pathologic findings, points to a preferential cerebellar involvement in this disease. A relative increase in the perfusion to the basal ganglia correlated with the magnetic resonance imaging abnormalities, highly resembling that of Hallervorden-Spatz disease in one of the males, at this site. PMID:15664778

Kóbor, Jeno; Javaid, Ahmad; Omojola, Matthew F

2005-02-01

101

Ulcerated infantile hemangioma treated with imiquimod.  

PubMed

A 5-month-old boy was observed in our department presenting with an ulcerated infantile hemangioma on the right buttock. This lesion appeared during the first week of life and had been growing progressively, showing ulceration for 3 weeks. We started treatment with corticosteroids, first with the association of betametasone and fusidic acid topically, and then systemically. After 6 weeks of oral treatment as there was no significant improvement, corticosteroid therapy was slowly tapered and local application of imiquimod 5 percent cream, on alternate days, was started. After 12 weeks of therapy with imiquimod there was complete resolution of the ulceration. There were no side effects. PMID:21971278

Mascarenhas, Rosa; Guiote, V; Agro, J; Henrique, M

2011-01-01

102

Sclerotherapy for the Treatment of Infantile Hemangiomas  

PubMed Central

Sclerotherapy is a simple, technically easy and effective mode of treatment for infantile hemangiomas (IH). It acts by blocking the growth of actively proliferating lesions, by targeting their vascularity accelerating their regression. Polidocanol is a commonly used sclerosant. We report two interesting cases of IH treated solely with polidocanol sclerotherapy and discuss the unique place this modality has in the armamentarium against IH. Sclerotherapy was found to be especially useful for large, exuberant and pedunculated lesions, producing rapid regression and preventing the disfiguring sequelae which are likely if large or pedunculated lesions are left to involute on their own. PMID:23112519

Grover, Chander; Khurana, Ananta; Bhattacharya, Sambit N

2012-01-01

103

Factors associated with infantile hypertrophic pyloric stenosis.  

PubMed

We examined perinatal factors in relation to the rise in incidence of infantile hypertrophic pyloric stenosis among children in Olmsted County, Minnesota, during the period from 1950 through 1984. Primogeniture was associated with male infants but not female infants; some factor related to primogeniture, such as breast-feeding, may be etiologically important. Our data did not support a role for maternal disease, use of doxylamine succinate-pyridoxide hydrochloride (Bendectin), or an infectious process. Further study should be directed toward environmental factors associated with primogeniture. PMID:3344722

Jedd, M B; Melton, L J; Griffin, M R; Kaufman, B; Hoffman, A D; Broughton, D; O'Brien, P C

1988-03-01

104

Advances in infantile hypertrophic pyloric stenosis.  

PubMed

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

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

2014-07-01

105

Neuroleptic Malignant Syndrome  

PubMed Central

The neuroleptic malignant syndrome (NMS) is a potentially fatal syndrome characterized by diffuse muscular rigidity, pyrexia, sweating, cardiovascular instability, and elevated serum creatinine phosphokinase. NMS occurs in 2% of all patients exposed to neuroleptics (antipsychotic drugs). A case of successfully treated NMS is presented, and the typical symptomatic presentation, etiology, pathogenesis, and treatment options of this syndrome are described. PMID:21253261

Reinish, Lawrence W.; Remick, Ronald A.

1988-01-01

106

Malignant tumors of childhood  

SciTech Connect

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.

Brooks, B.J.

1986-01-01

107

[Malignant peritoneal mesothelioma].  

PubMed

Mesothelioma is a neoplasm originating from the mesothelial surface lining cells of the serous human cavities. It may involve the pleura, less frequently the peritoneum rarely, the pericardium, the tunica vaginalis testis and ovarian epithelium. Asbestos has been widely used in industry. A causal relationship between asbestos exposure and pleural, peritoneal and pericardial malign mesothelioma was suggested, the risk of cancer being correlated to cumulate exposure. Studies from National Cancer Institute, USA, show that the malignant mesothelioma is a rare and aggressive asbestos related malignancy. The symptomatology is insidious and poses difficult problems in diagnosis and treatment. This paper presents the case of a 59 year old patient with malignant peritoneal mesothelioma who worked almost 40 years as an electrician, exposed to asbestos fibers. He was hospitalized for important weight loss, abdominal pain and tiredness being diagnosed after imaging tests with a giant tumor, localized at the abdominal upper level, which seems to originate from the spleen's superior pole. During surgery we discovered a tumor with cystic parts, intense vascularized, which turn to be adherent in the upper side to the lower face of the left midriff cupola, to the spleen superior pole and 1/3 middle level of the great gastric curve. It was performed surgical ablation of the tumor, splenectomy with favorable postoperative evolution, the patient being now under chemotherapy treatment. PMID:17283842

Scripcariu, V; Dajbog, Elena; Lefter, L; Ferariu, D; Pricop, Adriana; Grigora?, M; Dragomir, Cr

2006-01-01

108

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

PubMed Central

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

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

2008-01-01

109

Outcomes in biliary malignancy.  

PubMed

The biliary malignancies that are reviewed here are gallbladder cancer (GBC), intrahepatic cholangiocarcinoma (IHC), and perihilar cholangiocarcinoma (PHC). The focus is on outcomes after potentially curative resection of biliary malignancies. Key outcomes are postoperative mortality, median and 5-year overall survival (OS), recurrence-free survival, and recurrence patterns. Poor prognostic factors for recurrence and survival as well as prognostic models are also discussed. The incidence of biliary malignancies in the United States is about 5 in 100,000. Postoperative mortality for resection of GBC and IHC is similar to that of liver resections for other indications. However, 90 day postoperative mortality after liver resection for PHC is about 10%. For GBC, median OS depends strongly on the T-stage and ranges from 8 months (pT3) to 79 months (pT1b). Median OS after resection for IHC is about 30 months, and for PHC about 38 months. The majority of patients with biliary malignancies develop a recurrence after resection. Patients with GBC recur early with a median time to recurrence of 12 months, versus about 20 months for IHC and PHC. In patients with resected IHC or PHC locoregional recurrence was the only site of recurrence in about 60% of patients, versus 15% in patients with GBC. Poor prognostic factors after resection of all biliary malignancies include the presence of lymph node metastasis, a positive surgical resection margin, and moderate or poor tumor differentiation. Several prognostic nomograms have been developed to predict long-term outcomes of biliary cancer resection. J. Surg. Oncol. 2014 110:585-591. © 2014 Wiley Periodicals, Inc. PMID:25250887

Groot Koerkamp, Bas; Fong, Yuman

2014-10-01

110

Malignant Melanoma of the Foot  

MedlinePLUS

... Text Size Print Bookmark Malignant Melanoma of the Foot What is Malignant Melanoma? Melanoma is a cancer ... age groups, even the young. Melanoma in the Foot Melanoma that occurs in the foot or ankle ...

111

GABAA Receptor Properties in Catastrophic Infantile Epilepsy  

PubMed Central

Catastrophic epilepsy due to cortical dysplasia is often intractable to anticonvulsant treatment. Many of the medications used unsuccessfully in treating this disorder are thought to exert at least a portion of their action through enhancement of inhibitory GABAA neurotransmission. In the present study, GABAA receptor properties in resected brain tissue from four infants with infantile spasms and intractable epilepsy due to cortical dysplasia were measured to determine if this clinical resistance to pharmacologic treatment correlates with alterations in receptor function. Results from epileptic cortex were compared with those from autopsy control samples. To perform these studies, we utilized the technique of injection of brain cellular membrane preparations into the Xenopus oocyte, which results in the incorporation of human GABAA receptors in their native configuration into the oocyte plasma membrane. Two-electrode voltage clamp electrophysiology analysis was then performed to assess GABAA receptor pharmacologic properties. The intrinsic properties of affinity, reversal potential, current decay, and current rundown were unchanged in the epileptic infants. Current enhancement by benzodiazepines was also unaltered, as was the response to barbiturates. However, a significant decrease was found in the degree of GABAA current enhancement by neurosteroids in the epileptic infants, along with an increase in current inhibition by zinc. These findings may contribute to the mechanisms of intractability in catastrophic infantile epilepsy due to cortical dysplasia, and suggest alternative therapeutic approaches. PMID:18650066

Peugh, Lindsey D.; Ojemann, Jeffrey G.

2008-01-01

112

Malignancy in Neurofibromatosis Type 1  

Microsoft Academic Search

Neurofibromatosis type 1 (NF1) represents a major risk factor for development of malignancy, particularly malignant peripheral nerve sheath tumors (MPNST), optic gliomas, other gliomas, and leukemias. The oncol- ogist will see NF1 patients referred for treatment of malignancy, and should be alert to the possibility of undiagnosed NF1 among patients with cancer. Brain tumors tend to have a more indolent

BRUCE R. KORF

113

Lymphoscintigraphy in malignant melanoma  

SciTech Connect

The development and rationale for the use of lymphoscintigraphy in the preoperative evaluation of patients with malignant melanoma being considered for elective lymph node dissection is reviewed. This overview is updated by an analysis of 135 patients with early stage malignant melanoma involving the head, neck, shoulders, and trunk at Moffitt Cancer Center and Research Institute at the University of South Florida (Tampa, FL). High discordancy rates (overall, 41%) were seen between drainage patterns predicted from historical anatomical guidelines and those revealed by the lymphoscintigraphic examination. The high discordancy rate was most pronounced in the head (64%) and the neck (73%). Surgical management was changed in 33% of the patients, overall. A preoperative lymphoscintigram is recommended for all patients with melanoma with head, neck, and truncal lesions evaluated for elective lymph node dissection as the lymphatic drainage patterns are often unpredictable and variable.

Berman, C.G.; Norman, J.; Cruse, C.W.; Reintgen, D.S.; Clark, R.A. (Department of Radiology, H. Lee Moffitt Cancer Center, Tampa, FL (United States))

1992-01-01

114

Managing Malignant Cerebral Infarction  

PubMed Central

Opinion statement Managing patients with malignant cerebral infarction remains one of the foremost challenges in medicine. These patients are at high risk for progressive neurologic deterioration and death due to malignant cerebral edema, and they are best cared for in the intensive care unit of a comprehensive stroke center. Careful initial assessment of neurologic function and of findings on MRI, coupled with frequent reassessment of clinical and radiologic findings using CT or MRI are mandatory to promote the prompt initiation of treatments that will ensure the best outcome in these patients. Significant deterioration in either neurologic function or radiologic findings or both demand timely treatment using the best medical management, which may include osmotherapy (mannitol or hypertonic saline), endotracheal intubation, and mechanical ventilation. Under appropriate circumstances, decompressive craniectomy may be warranted to improve outcome or to prevent death. PMID:21190097

Sahuquillo, Juan; Sheth, Kevin N.; Kahle, Kristopher T.; Walcott, Brian P.

2011-01-01

115

Malignant insulinoma in childhood.  

PubMed

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

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

2006-05-01

116

Chemotherapy for malignant glioma.  

PubMed

Malignant gliomas comprise a small percentage of all cancers, but continue to cause disproportionate levels of morbidity and mortality. Despite decades of intensive effort from many disciplines--surgery, radiation oncology and medicine--they remain refractory to cure and, in most cases, even to prolonged treatment response. Comprehensive multidisciplinary treatment is well recognized as the optimal approach. While continued advances and refinement in both surgical and radiotherapy-based techniques are certain, medical therapies are expanding at a much more rapid rate. This is due, in large part, to an understanding of the molecular events that underlie cancer pathogenesis and improved laboratory techniques to manufacture and study molecules that influence this process. This review will focus on medical therapies in the treatment of malignant glioma, never losing sight of their place as one of several therapeutic modalities used to confront brain cancer. PMID:16274270

Nicholas, M Kelly; Lukas, Rimas; Bangalore, Samir

2005-11-01

117

Hyaluronan in human malignancies  

SciTech Connect

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.

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

118

Malignant mesothelioma in women.  

PubMed Central

BACKGROUND: Malignant mesothelioma reportedly shows different epidemiology and pathology in females, and a proportion are believed to arise spontaneously. METHODS: One hundred and seventy seven cases of malignant mesothelioma in females were reviewed, examined by histochemistry and immunohistochemistry, assessed for asbestosis and lung fibre burden by transmission electron microscopy with energy dispersive x ray analysis, and compared with 31 female controls. RESULTS: Two of one hundred and three cases tested for carcinoembryonic antigen were positive and were excluded from further analysis. Tumour cases showed increased amphibole burdens; in those in whom exposure information was known, 74 (80%) of 93 patients had a history of exposure to asbestos. Seventy two (47%) of 152 patients had lung fibrosis. Tumour site and histological type were little different from those reported in adult males. Mixed type histological pattern, lung fibrosis, and peritoneal site were associated with heavier lung asbestos burdens, but not exclusively. Thirty five (30%) of 117 patients had amphibole burdens of less than 2 x 10(6) fibres/g; the sites affected and the histological pattern of tumours in this group were similar to those in cases with amphibole fibre counts of > or = 2 x 10(6)/g lung. A higher lung amphibole burden than the mean burden in control females was found in 115 (98%) of 117 patients tested. CONCLUSIONS: The pathology of malignant mesothelioma appears to be similar in women and in men, and in cases associated and unassociated with asbestos. PMID:8497827

Dawson, A; Gibbs, A R; Pooley, F D; Griffiths, D M; Hoy, J

1993-01-01

119

POSTER PRESENTATION Open Access Infantile de novo primary antiphospholipid  

E-print Network

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

Paris-Sud XI, Université de

120

[Infantile neuroaxonal dystrophy: report of 2 cases].  

PubMed

We describe two cases of infantile neuroaxonal dystrophy, which is a rare, neurodegenerative disease, with autosomal recessive inheritance. The first case was an 8 year old boy, with arrested motor and mental development, ataxia and muscle weakness. On physical examination there was horizontal and vertical nystagmus, optic disc atrophy, hypotonia; deep tendon reflexes were absent. The second case was a 1.6 year old boy with arrested motor and mental development, and seizures. On physical examination there was optic atrophy, hypertonia and hyperreflexia. Both patients had on sural nerve biopsy neuronal enlargement, consistent with neuroaxonal dystrophy. Diagnosis without pathological confirmation with neuroaxonal spheroids is very difficult, because the clinical picture is variable and the neurophysiological findings are non specific. PMID:10683693

Scola, R H; Werneck, L C; Ramos, C S; Barea, L M; da Cunha, F M; Sanderson, A M

1999-12-01

121

New enzymatic findings in infantile neuroaxonal dystrophy.  

PubMed

Two siblings with infantile neuroaxonal dystrophy (INAD) exhibited highly increased activity of nonspecific esterase (resistant to physostigmine and sensitive to organophosphates) topically correlating with the morphological manifestations of the disease (spheroids), confined in those two particular cases to the central nervous system (CNS). This is demonstrated for the first time. NADH tetrazolium reductase was another enzyme noted with increased activity and similar topography. The lesions were devoid of any marked activity of typical mitochondrial (succinate and alpha-glycerolphosphate) dehydrogenases and lysosomal (acid phosphatase and beta-glucuronidase) enzymes. The diagnostic significance of monitoring non-specific esterase and NADH tetrazolium reductase activities in the diagnosis of INAD is discussed in particular. PMID:6410678

Elleder, M; Jirásek, A

1983-01-01

122

Infantile neuroaxonal dystrophy caused by uniparental disomy.  

PubMed

Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegenerative disorder caused by mutations in the phospholipase A2 group 6 (Pla2G6) gene. Affected individuals usually present between the ages of 6 months and 2 years with rapid cognitive and motor regression and axial hypotonia. Gait disturbance, limb spasticity, cerebellar signs, and optic atrophy are other common features associated with INAD. Although magnetic resonance imaging (MRI) can sometimes contribute towards the diagnosis, the confirmation of INAD is by Pla2G6 gene analysis. In this case report, we describe the first individual (female) with INAD due to a combination of uniparental heterodisomy and isodisomy; we discuss the possible underlying mechanism and highlight the importance of parental carrier testing in accurately predicting the recurrence risk in these families. We also confirm the recent report of hypertrophy of the clava (also known as the 'gracile tubercle') as a useful MRI sign in INAD. PMID:24628589

Solomons, Joyce; Ridgway, Oliver; Hardy, Carol; Kurian, Manju A; Kurian, Manju; Jayawant, Sandeep; Hughes, Sarah; Pretorius, Pieter; Németh, Andrea H

2014-04-01

123

Diagnosis of infantile neuroaxonal dystrophy by conjunctival biopsy.  

PubMed

Conjunctival biopsy and ultrastructural examination of conjunctival nerves, showing the presence of spheroids within axons, led to the confirmation of the diagnosis of infantile neuroaxonal dystrophy in two children with progressive mental deterioration. Conjunctival biopsy, which is simple to perform, even in young children, and does not require general anaesthesia or admission to hospital, is presented as a reliable and very convenient technique for the diagnosis of infantile neuroaxonal dystrophy. PMID:671062

Arsénio-Nunes, M L; Goutières, F

1978-06-01

124

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

Microsoft Academic Search

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

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

2008-01-01

125

Severe infantile hypothermia: short- and long-term outcome  

Microsoft Academic Search

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

S. Sofer; E. Benkovich

2000-01-01

126

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

PubMed Central

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

Khan, Sarah N.; Sepahdari, Ali R.

2012-01-01

127

[Malignant cardiac tumors].  

PubMed

Cardiac neoplasms are a rare occurrence in clinical practice. The various frequencies of primary and secondary malignant tumors vary from report to report, approximately 1% in most autopsy series and 4% in cancer patient's autopsies. Cardiac malignancies account for less 1% of cardiac surgery and about for 0.1% of cardiac echographic studies. The presence of metastatic tumor to the heart usually indicates widespread metastases. Lung carcinomas are the most commonly encountered tumor followed by breast and pancreas cancer and melanoma. Apart from primary pericardial mesothelioma, primary cardiac tumors are high-grade sarcomas with a high metastatic potency that often becomes evident early after surgery. Symptoms are non specific, occur late in the disease and affect few patients; especially secondary neoplasms of the heart take their course so fast that they cannot become symptomatic. The signs of cardiac neoplasms are divided into systemic symptoms (fever, arthralgias and myalgias), cardiac symptoms (congestive heart failure, arrhythmia, chest pain) and uncommon embolisms. Diagnosis is actually made easier with cardiac echography. Cardiac RMI is helpful to estimate vessels and pericardium involvement. Due to its poor prognosis, treatment of cardiac metastases is restricted to best supportive care. For primary cardiac neoplasms, surgery must be carefully discussed because operative intervention is often followed by rapid widespread metastases that adjuvant chemotherapy cannot avoid in most cases. PMID:15899620

Debourdeau, Philippe; Gligorov, Joseph; Teixeira, Luis; Aletti, Marc; Zammit, Christine

2004-11-01

128

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

PubMed Central

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

van der Waal, Isaac

2014-01-01

129

Neuroleptic Malignant Syndrome  

PubMed Central

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

Berman, Brian D.

2011-01-01

130

Temozolomide in malignant glioma  

PubMed Central

Glioblastoma multiforme WHO grade IV (GBM) is the most aggressive malignant glioma and the most frequent primary tumor of the central nervous system. The median survival of newly diagnosed GBM patients was between 9 to 12 months prior to treatment with temozolomide being introduced. Primary resection that is as complete as possible is recommended for malignant glioma. Conventional fractionated irradiation 55 to 60 gy with concomitant temozolomide followed by standard temozolomide 6 cycles (5/28) (EORTC/NCIC-regime published by R Stupp in 2005) is the standard of care for newly diagnosed GBM after surgery, independent of the methylation status of the MGM-T gene promoter. Age is no contraindication for treatment with temozolomide, although comorbidity and performance status have to be considered. For temozolomide naive GBM and astrocytoma grade III patients with disease progression, temozolomide is still the treatment of choice outside of clinical studies. A general consensus regarding the schedule of choice has not yet been achieved; so far the 5 out of 28 days regimen (5/28) is the standard of care in most countries. Patients with disease progression after standard temozolomide (5/28) are candidates for clinical studies. Outside of clinical studies, dose-dense (7/7), prolonged (21/28), or metronomic (28/28) temozolomide, or alternatively a nitrosourea-based regimen can be an option. The excellent toxicity profile of temozolomide allows for various combinations with antitumor agents. None of these combinations, however, have been demonstrated to be statistically significantly superior compared to temozolomide alone. The role of lower dosed, dose-dense, or continuous regimen with or without drug combination and the role of temozolomide for newly diagnosed astrocytoma grade III and low grade glioma still has to be determined. PMID:20856849

Dresemann, Gregor

2010-01-01

131

Cerebral cortical isolation in infantile neuroaxonal dystrophy.  

PubMed

Three patients with infantile neuroaxonal dystrophy (INAD, Seitelberger's disease) studied between ages 2 and 5 years, with the characteristic electroencephalographic pattern of high-voltage, fast (16-24 c/sec) rhythms and absence of reactivity on eye-opening or closure (Radermecker and Dumon-Radermecker 1972), also showed no changes in response to intermittent photic stimulation and absence of evoked potentials to flashes, clicks or median nerve stimuli. Although some theta rhythms and delta activity appeared during drowsiness and sleep, the fast rhythms persisted as the dominant feature. There were no central transients or K-complexes. When the patients cried, with hyperventilation, and also during breath-holding spells, slow rhythms appeared and the fast rhythm was reduced. These findings are interpreted as evidence of cerebral cortex isolation, the fast rhythm representing the spontaneous ("idling") activity of the cortex largely disconnected from subcortical or remote cortical influences by the slowly progressive, selective degeneration of axons, characteristic of the pathology of INAD, but the cortex remains responsive to chemical influences. These electrophysiological features become established furing the third year of age, prior EEGs being normal and later ones showing paroxysmal and other abnormal features in addition to the fast rhythm. PMID:69528

Ferriss, G S; Happel, L T; Duncan, M C

1977-08-01

132

Psychosocial predisposing factors for infantile colic.  

PubMed Central

OBJECTIVE--To study associations between characteristics of families during the first pregnancy and after childbirth and the development of infantile colic. DESIGN--Randomised, stratified cluster sampling. Follow up from the first visit to a maternity health care clinic during pregnancy to three months after birth with confidential semistructured questionnaires. SETTING--Maternity health care clinics in primary health care centres in Finland. SUBJECTS--1443 nulliparous women and 1407 partners. Altogether 1333 women and 1279 men returned the questionnaires. When the infants were 3 months old 1208 women and 1115 men returned questionnaires. MAIN OUTCOME MEASURES--Marital relationship; personal and social behaviour of parents during the pregnancy and their coping with the pregnancy; mothers' physical health and events, symptoms, and experiences in relation to pregnancy; self confidence and experiences of mothers and fathers in relation to childbirth; and parents' sociodemographic and educational variables. Measure of colic when the infant was 3 months old. RESULTS--Experience of stress and physical symptoms during the pregnancy, dissatisfaction with the sexual relationship, and negative experiences during childbirth were associated with the development of colic in the baby. None of the sociodemographic factors was associated with colic. CONCLUSIONS--Early preventive health work during pregnancy should attempt to improve parents' tolerance of symptoms of stress and ability to cope and increase their confidence in parenting abilities. PMID:8401016

Rautava, P; Helenius, H; Lehtonen, L

1993-01-01

133

Marrow cell transplantation for infantile hypophosphatasia.  

PubMed

An 8-month-old girl who seemed certain to die from the infantile form of hypophosphatasia, an inborn error of metabolism characterized by deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP), underwent the first trial of bone marrow cell transplantation for this heritable type of rickets. After cytoreduction, she was given T-cell-depleted, haplo-identical marrow from her healthy sister. Chimerism in peripheral blood and bone marrow became 100% donor. Three months later, she was clinically improved, with considerable healing of rickets and generalized skeletal remineralization. However, 6 months post-transplantation, worsening skeletal disease recurred, with partial return of host hematopoiesis. At the age of 21 months, without additional chemotherapy or immunosuppressive treatment, she received a boost of donor marrow cells expanded ex vivo to enrich for stromal cells. Significant, prolonged clinical and radiographic improvement followed soon after. Nevertheless, biochemical features of hypophosphatasia have remained unchanged to date. Skeletal biopsy specimens were not performed. Now, at 6 years of age, she is intelligent and ambulatory but remains small. Among several hypotheses for our patient's survival and progress, the most plausible seems to be the transient and long-term engraftment of sufficient numbers of donor marrow mesenchymal cells, forming functional osteoblasts and perhaps chondrocytes, to ameliorate her skeletal disease. PMID:12674323

Whyte, Michael P; Kurtzberg, Joanne; McAlister, William H; Mumm, Steven; Podgornik, Michelle N; Coburn, Stephen P; Ryan, Lawrence M; Miller, Cindy R; Gottesman, Gary S; Smith, Alan K; Douville, Judy; Waters-Pick, Barbara; Armstrong, R Douglas; Martin, Paul L

2003-04-01

134

Recent advances in the pharmacotherapy of infantile spasms.  

PubMed

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

Riikonen, Raili

2014-04-01

135

Has infantile sexuality anything to do with infants?  

PubMed

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

Salomonsson, Björn

2012-06-01

136

Malignant eroticized countertransference.  

PubMed

Gabbard (1994) divided the pathology of therapists, both male and female, who commit sexual boundary violations into those who are psychotic, those who are predatory psychopaths, those engaging in masochistic surrender, and those called "the lovesick therapist." Lovesick therapists are the most common type and manifest crucial narcissistic themes of "a desperate need for validation by their patients, a hunger to be loved and idealized, and a tendency to use patients to regulate their own self-esteem" (p. 127). Among the psychodynamic aspects of this curiously circumscribed area of loss of reality testing that makes it difficult for the therapist to see how self-destructive and harmful such enactment is, are an unconscious reenactment of incestuous longings, a misperception of the patient's wish for maternal nurturance as a sexual overture, enactments of rescue fantasies, a projected idealization of the self of the therapist, a confusion of the therapist's needs with the patient's needs, a fantasy that love is curative, acting out disavowed rage at the patient, or rage at an organization, an institute, or one's training analyst, a manic defense against mourning, a narcissistic fantasy that their sexual affair is an exception, insecurity regarding masculine identity, and assorted primitive preoedipal themes. Gabbard's (1991) erotized countertransference is one variety of what I have termed malignant eroticized countertransference. His variety is a development that occurs under the pressure of the patient's preemptive and compelling expressions of lust and love, the patient's erotic transference. But malignant eroticized countertransference can also occur without the patient having offered any such expressions; it can even occur on first meeting the patient when he or she walks into the office! This is akin to the romantic "love-at-first-sight" theme so favored in the movies and by novelists, but it is always pathological when it occurs in the therapeutic situation. Countertransference enactments are a creation between the patient and the therapist on a continuum from one pole, where the patient has just walked into the office and contributes almost nothing directly, to the other pole, where the therapist loses control of himself or herself as a response to the unbearable pressure of the patient's lust. In the treatment of malignant eroticized countertransference it seems clear from this discussion that every case should be evaluated psychodynamically and the treatment should be made to fit the patient, not the patient to the treatment. Each situation should be studied in psychodynamic depth without preconceptions based on generalizations or formulas. Therapists who are psychotic should of course be treated with antipsychotic drugs and usually should not be allowed to practice any further. Therapists who are psychopathic or sociopathic predators should certainly never be allowed to practice. Some of the individuals who are "lovesick," or, as I put it "love/lust obsessed," or those who have made a masochistic surrender to a sadistic destructive patient, are in need of reanalysis and have the potential to continue as effective therapists under careful supervision. Therapists like this do not deserve to be summarily dismissed from the profession but, like therapists who develop other serious neurotic problems, should receive appropriate help from us. PMID:9395991

Chessick, R D

1997-01-01

137

[Malignant peritoneal mesothelioma].  

PubMed

The peritoneal mesothelioma is a rare pathology with unspecific symptoms reason to be a difficult diagnosis. We report a case of a 58 year old man with diabetes mellitus type 2, arterial hypertension and smoking; without precedent of asbestos exposure. The patient presented a one month history characterized by progressive increase of the abdominal volume and sensation of fullness; three weeks later they added breathlessness and hyporexia. The patient was in regular general condition; he was not presenting hepatic stigmas, edema or adenomegalies. The examination of thorax and cardiovascular it was normal. The abdomen distended by ascites, not painful, liver and spleen not examined. Laboratory: Hemoglobin 11,9 gr/dl, WBC 6840/mm3 Bands 1 %, lymphocytes 10 %, platelets 620000/mm3, PT 12 seconds, PTT 34 seconds, glucose 158 mg/dl, BUN 20,5 mg/ dl, creatinine 1,2 mg/dl, proteins 6,1 gr/dl, albumin 2,6 gr/dl. LDH 316 U/l, beta2microglobulin 2,2 mg/l (0.83-1.15 mg/l). HBV and HCV negative. Ca 19.9, CEA, AFP and PSA negative. Hemocultive negative. Ascitic fluid: ADA 20,3 U/l, serum-ascitic albumin gradient (SAAG) 1,1. Leukocytes 2237 cells/mm3, PMN 6 %, lymphocytes 90 %, mesothelial cells 4 %, proteins 4,6 gr/dl, albumin 2,34 gr/dl, glucose 44 mg/dl, LDH 1918 U/l. Gram and cultive: negatives. BAAR and cultive: negative . Cytology: mesothelial cells with changes of type reagent, Block cell for tumour cells: negative. Abdominal US: increased peritoneum and abundant ascitic fluid. Thoracic-abdominal CT: left side pleural effusion, severe ascites with thick epyplon. Upper GI endoscopy: moderate gastritis. Colonoscopy: two small sessile polyps in sigmoid colon. The finds of the laparoscopy were interpreted like carcinomatosis or peritoneal tuberculosis. The report of the peritoneal biopsy was informed as suggestive of undifferentiated carcinoma; the reappraisal with inmunohystochemic (calretinin +,cytokeratin +, vimentin +) indicated malignant peritoneal mesothelioma, type epithelial. The evolution was torpid. The patient was transferred to the Service of Oncology where they initiated chemotherapy with Cysplatin (CDDP) and died 20 days later. The malignant mesothelioma peritoneal is a unfrequent entity, with limited therapeutic options; generally detected late, with a palliative treatment. PMID:20445731

Torrejón Reyes, Paul N; Frisancho, Oscar; Gómez, Aldo; Yábar, Alejandro

2010-01-01

138

Infantile galactosialidosis presenting with congenital adrenal hyperplasia and renal hypertension.  

PubMed

A patient with early infantile galactosialidosis presenting as congenital adrenal hyperplasia with clitoral hypertrophy and arterial hypertension is reported. Serum 17-alpha-OH-progesterone and plasma renin levels were elevated. Adrenal hyperplasia and thickening of the cardiac septum were detected by sonography; however, progressive hepatosplenomegaly, increasingly coarse features, and vacuolization of bone marrow and liver cells suggested a storage disorder. Combined deficiency of beta-galactosidase and sialidase enzyme activity in both lymphocytes and cultured fibroblasts was detected. This patient with early infantile galactosialidosis is the first reported who presented with congenital adrenal hyperplasia. PMID:8216548

Kyllerman, M; Månsson, J E; Westphal, O; Conradi, N; Nellström, H

1993-01-01

139

Liver transplantation for malignancies.  

PubMed

Liver transplantation (LT) has become an acceptable and effective treatment for selected patients with hepatocellular carcinoma with excellent outcomes. More recently, LT has been tried in different primary and secondary malignancies of the liver. The outcomes of LT for very selected group of patients with hilar cholangiocarcinoma (CCA) have been promising. Excellent results have been reported in LT for patients with unresectable hepatic epithelioid hemangioendothelioma (HEHE). In contrast to excellent results after LT for HEHE, results of LT for angiosarcoma have been disappointing with no long-term survivors. Hepatoblastoma (HB) is the most common primary liver cancer in pediatric age group. Long-term outcomes after LT in patients with unresectable tumor and good response to chemotherapy have been promising. Indication for LT for hepatic metastasis from neuroendocrine tumors (NETs) is mainly for patients with unresectable tumors and for palliation of medically uncontrollable symptoms. Posttransplant survival in those patients with low tumor activity index is excellent, despite recurrence of the tumor. More recent limited outcomes data on LT for unresectable hepatic metastases from colorectal cancer have claimed some survival benefit compared to the previous reports. However, due to the high rate of tumor recurrence in a very short time after LT, especially in the era of organ shortage, this indication has not been favored by the transplant community. PMID:24604263

Eghtesad, Bijan; Aucejo, Federico

2014-09-01

140

Malignant gonadal mesothelioma.  

PubMed

Malignant mesothelioma of the gonads is a rare and highly lethal disease. Most of these tumors arise from the tunica vaginalis, which is a continuation of the mesothelium similar to the pleura and the peritoneum. However, intratesticular and ovarian mesotheliomas have also been described. Occasionally, patients with localized disease at the time of detection have been known to survive for more than 10 years; however, the majority will not live beyond 5 years, with median survival being approximately 23 months. The principle reasons for this are difficulty in making a preoperative diagnosis and advanced stage at the time of treatment. Surgery forms the mainstay of management for all stages of the tumor. Adjuvant therapy in the form of chemotherapy, immunotherapy, or radiotherapy has negligible benefit. It is essential to diagnose this rare entity at the early stages to allow complete surgical extirpation. For the management of localized disease, we suggest the following protocol: initial staging of suspected cases with computed tomographic scan of the abdomen and pelvis; radical inguinal orchiectomy or hemiscrotectomy; retroperitoneal lymph node dissection in cases with positive nodes on scan or biopsy; and inguinal node dissection in cases requiring hemiscrotectomy. For advanced or recurrent disease, we suggest local radical resection with chemotherapy, including high-dose cisplatin and doxorubicin for two cycles of 5 days each; add local radiotherapy for uncontrolled locally advanced disease. PMID:12194801

Gupta, Narmada P; Kumar, Rajeev

2002-10-01

141

Osteoclasts from Patients with Autosomal Dominant Osteopetrosis Type I Caused by a T253I Mutation in Low-Density Lipoprotein Receptor-Related Protein 5 Are Normal in Vitro, but Have Decreased Resorption Capacity in Vivo  

PubMed Central

Autosomal dominant osteopetrosis type I (ADOI) is presumably caused by gain-of-function mutations in the LRP5 gene. Patients with a T253I mutation in LRP5 have a high bone mass phenotype, characterized by increased mineralizing surface index but abnormally low numbers of small osteoclasts. To investigate the effect of the T253I mutation in LRP5 on osteoclasts, we isolated CD14+ monocytes from ADOI patients and assessed their ability to generate osteoclasts when treated with RANKL and M-CSF compared to that of age- and sex-matched control osteoclasts. We found normal osteoclastogenesis, expression of osteoclast markers, morphology, and localization of proteins involved in bone resorption, such as ClC-7 and cathepsin K. The ability to resorb bone was also normal. In vivo, we compared the bone resorption and bone formation response to T3 in ADOI patients and age- and sex-matched controls. We found attenuated resorptive response to T3 stimulation, despite a normal bone formation response, in alignment with the reduced number of osteoclasts in vivo. These data demonstrate that ADOI osteoclasts are normal with respect to all aspects investigated in vitro. We speculate that the mutations causing ADOI alter the osteoblastic phenotype toward a smaller potential for supporting osteoclastogenesis. PMID:16251418

Henriksen, Kim; Gram, Jeppe; H?egh-Andersen, Pernille; Jemtland, Rune; Ueland, Thor; Dziegiel, Morten H.; Schaller, Sophie; Bollerslev, Jens; Karsdal, Morten A.

2005-01-01

142

Ibrutinib for B cell malignancies  

PubMed Central

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

2014-01-01

143

AMG 319 Lymphoid Malignancy FIH  

ClinicalTrials.gov

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

2014-07-31

144

JAMA Patient Page: Malignant Hyperthermia  

MedlinePLUS

... MH ) is severe, potentially fatal increased body energy consumption after exposure to certain anesthetic drugs. Malignant hyperthermia ... monitoring of breathing, heart function, and body temperature. Oxygen is provided with an increased breathing rate using ...

145

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.

146

Molecular therapies for malignant glioma  

Microsoft Academic Search

\\u000a Zusammenfassung  Trotz den heute zur Verfügung stehenden Therapiemöglichkeiten besitzen maligne Gliome weiterhin eine schlechte Prognose. Daher\\u000a besteht ein dringender Bedarf zur Evaluierung neuer Therapiekonzepte, die auf einem besseren molekularen Verständnis der Onkogenese\\u000a maligner Gliome basieren. Verschiedene Ansätze molekularer Therapien bei malignen Gliomen werden in präklinischen und klinischen\\u000a Studien auf ihre Wirksamkeit und Anwendbarkeit überprüft. Dazu zählen vor allem selektiv wirkende klein-molekulare

Markus Hutterer; Eberhard Gunsilius; Guenther Stockhammer

2006-01-01

147

Diagnosis of infantile neuroaxonal dystrophy by skin biopsy.  

PubMed

Skin biopsy with ultrastructural examination of cutaneous nerves showed dystrophic axons (spheroids), confirming a diagnosis of infantile neuroaxonal dystrophy. Independent of axonal changes, a few endoneurial and Schwann cells showed cytoplasmic inclusion bodies composed of structures similar to those seen in the spheroids. PMID:6246837

Wisniewski, K; Wisniewski, H M

1980-04-01

148

Skin and conjunctival biopsies in infantile neuroaxonal dystrophy  

Microsoft Academic Search

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.

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

1979-01-01

149

Infantile neuroaxonal dystrophy: perinatal onset with symptoms of diencephalic syndrome.  

PubMed

In a neonatal case of infantile neuroaxonal dystrophy, there was emaciation, nystagmus, and endocrinologic disorder suggesting the diencephalic syndrome. At autopsy, spheroid bodies were widely disseminated, particularly in the hypothalamus, infundibulum, and neurohypophysis. The pathologic process may have started in utero. PMID:2986047

Nagashima, K; Suzuki, S; Ichikawa, E; Uchida, S; Honma, T; Kuroume, T; Hirato, J; Ogawa, A; Ishida, Y

1985-05-01

150

Diagnosis of infantile neuroaxonal dystrophy by conjunctival biopsy  

Microsoft Academic Search

Conjunctival biopsy and ultrastructural examination of conjunctival nerves, showing the presence of spheroids within axons, led to the confirmation of the diagnosis of infantile neuroaxonal dystrophy in two children with progressive mental deterioration. Conjunctival biopsy, which is simple to perform, even in young children, and does not require general anaesthesia or admission to hospital, is presented as a reliable and

M L Arsénio-Nunes; F Goutières

1978-01-01

151

Un cas de dystrophie neuroaxonale infantile ou maladie de Seitelberger  

Microsoft Academic Search

This paper deals with the first ultrastructural study of muscle fiber in a child affected by infantile neuroaxonal dystrophy or Seitelberger's disease. In a first step, diagnosis was performed by light and electron microscopy in biopsy and autopsy findings in central and peripheral nervous system. Muscle fiber and axonal changes are very similar. The ultrastructure findings in muscle fiber are

M. Toga; M. Bérard-Badier; D. Gambarelli; N. Pinsard; J. Hassoun

1971-01-01

152

Axonal pathology of the skin in infantile neuroaxonal dystrophy  

Microsoft Academic Search

Ultrastructural studies on the skin of two patients affected by infantile neuroaxonal dystrophy (INAD) were performed to evaluate its diagnostic value and to discuss the etiology of INAD. While the majority of terminal axons around intradermal glands were dystophic consisting of tubulomembranous and tubulovesicular profiles sometimes accompanied by synaptic vesicles, there were only few dystophic axons inside intradermal nerve bundles.

S. Kimura; Y. Sasaki; I. Warlo; H. H. Goebel

1987-01-01

153

A Case of Infantile Neuroaxonal Dystrophy—Connatal Seitelberger Disease  

Microsoft Academic Search

We present a male stillbirth with infantile neuroaxonal dystrophy (connatal Seitelberger disease). Following the development of polyhydramnios with an ultrasound scan showing severe distal arthrogryposis, the mother was induced at 38 weeks. A moderately macerated severely intrauterine growth restricted male stillbirth was delivered. External microcephaly, sloping forehead, simplified palmar skin creases, fixed flexion deformities of the knees, severe talipes equinovarus,

Gabriel Chow; C. James H. Padfield

2008-01-01

154

Infantile hydrocephalus and the slit ventricle syndrome in early infancy  

Microsoft Academic Search

Slit ventricle syndrome is well known as a complication in the treatment of hydrocephalus by shunting. It is generally considered to be a chronic (but not acute) complication, occurring years after the shunt procedure; there has been no report of this syndrome occurring before 1 year of age. The authors present infantile cases that developed a severe form of this

Shizuo Oi; Satoshi Matsumoto

1987-01-01

155

Molecular genetics of infantile-onset retinal dystrophies.  

PubMed

Over the last decade there have been major advances in our understanding of the molecular pathology of inherited retinal dystrophies. This paper reviews recent advances in the identification of genetic mutations underlying infantile-onset inherited retinal disorders and considers how this knowledge may lead to novel therapeutic approaches. PMID:17914438

Moradi, P; Moore, A T

2007-10-01

156

Clinical spectrum of infantile scimitar syndrome: A tertiary center experience  

PubMed Central

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

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

2014-01-01

157

Conservative treatment of infantile subglottic hemangioma with corticosteroids.  

PubMed

Infantile subglottic hemangioma is a rare, potentially fatal cause of airway obstruction. Diagnosis is made by history, neck roentgenograms, and direct laryngoscopy. A regimen of high-dose intravenous steroids in combination with oxygen and a mist tent is the preferred mode of therapy in cases where tracheostomy is not required. PMID:7059313

Kveton, J F; Pillsbury, H C

1982-02-01

158

Infantile hypertrophic pyloric stenosis and asymptomatic joint hypermobility  

Microsoft Academic Search

A significant association with asymptomatic joint hypermobility was observed in 37 children with a history of infantile hypertrophic pyloric stenosis (P = .0016) and their parents (mothers, P < .0001; fathers, P < .05). The subjects with articular hypermobility showed an increased frequency of absent mandibular frenulum, thereby suggesting the presence of a previously unrecognized, systemic abnormality of the extracellular

Claudio De Felice; Giovanni Di Maggio; Paolo Toti; Stefano Parrini; Angelo Salzano; Urania E. Lagrasta; Franco Bagnoli

2001-01-01

159

Part One: Infantile Spasms--The New Consensus  

ERIC Educational Resources Information Center

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…

Pellock, John

2011-01-01

160

Recent results of treatment of infantile hypertrophic pyloric stenosis  

Microsoft Academic Search

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

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

1988-01-01

161

The pathology of infantile hypertrophic pyloric stenosis after healing  

Microsoft Academic Search

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

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

1996-01-01

162

Myenteric plexus neuropathy in infantile hypertrophic pyloric stenosis  

Microsoft Academic Search

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

R. Dieler; J. M. Schröder

1989-01-01

163

Pyloromyotomy versus atropine sulfate for infantile hypertrophic pyloric stenosis  

Microsoft Academic Search

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

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

2000-01-01

164

Ultrasound compared with clinical examination in infantile hypertrophic pyloric stenosis  

Microsoft Academic Search

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.

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

1996-01-01

165

Infantile hypertrophic pyloric stenosis in Belfast, 1957-1969  

Microsoft Academic Search

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

J A Dodge

1975-01-01

166

Colour Doppler imaging of intracranial vasculopathy in severe infantile sialidosis  

Microsoft Academic Search

Neonatal ascites is usually attributed to prenatal infections, lysosomal storage disease and anomalies of the genitourinary tract, gastrointestinal tract or cardiovascular system. We report one case of neonatal ascites associated with infantile sialidosis. Cerebral sonography showed stripe-like intracerebral echogenicities in the region of the basal ganglia. Colour Doppler imaging demonstrated blood flow within the echogenicities confirming the suspected diagnosis of

M. Ries; K.-H. Deeg; D. Wölfel; H. Ibel; B. Maier; G. Buheitel

1992-01-01

167

Molecular genetics of infantile-onset retinal dystrophies  

Microsoft Academic Search

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

P Moradi; A T Moore

2007-01-01

168

Alexander disease with mild dorsal brainstem atrophy and infantile spasms.  

PubMed

We present the case of a Japanese male infant with Alexander disease who developed infantile spasms at 8 months of age. The patient had a cluster of partial seizures at 4 months of age. He presented with mild general hypotonia and developmental delay. Macrocephaly was not observed. Brain magnetic resonance imaging (MRI) findings fulfilled all MRI-based criteria for the diagnosis of Alexander disease and revealed mild atrophy of the dorsal pons and medulla oblongata with abnormal intensities. DNA analysis disclosed a novel heterozygous missense mutation (c.1154 C>T, p.S385F) in the glial fibrillary acidic protein gene. At 8 months of age, tonic spasms occurred, and electroencephalography (EEG) revealed hypsarrhythmia. Lamotrigine effectively controlled the infantile spasms and improved the abnormal EEG findings. Although most patients with infantile Alexander disease have epilepsy, infantile spasms are rare. This comorbid condition may be associated with the distribution of the brain lesions and the age at onset of Alexander disease. PMID:22818990

Torisu, Hiroyuki; Yoshikawa, Yoko; Yamaguchi-Takada, Yui; Yano, Tamami; Sanefuji, Masafumi; Ishizaki, Yoshito; Sawaishi, Yukio; Hara, Toshiro

2013-05-01

169

Case report: consumptive hypothyroidism consequent to multiple infantile hepatic haemangiomas.  

PubMed

A 10-month-old infant with multiple infantile hepatic hemangiomas and developmental delay is reported. He was found to be profoundly hypothyroid. Evaluation and management issues are discussed. This case emphasizes the importance of screening for hypothyroidism in patients with hemangiomas and the potential therapeutic benefit of prednisolone therapy in this condition. PMID:18332720

Cho, Yoon Hi; Taplin, Craig; Mansour, Albert; Howman-Giles, Robert; Hardwick, Robert; Lord, David; Howard, Neville J

2008-04-01

170

Infantile Spasms and Cytomegalovirus Infection: Antiviral and Antiepileptic Treatment  

ERIC Educational Resources Information Center

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

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

2007-01-01

171

The Organic Etiology of Infantile Autism: Myth or Fact?  

ERIC Educational Resources Information Center

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.…

Sanua, Victor D.

172

Basic and clinical aspects of malignant melanoma  

SciTech Connect

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.

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

1987-01-01

173

Risk of third malignancies and death after a second malignancy in retinoblastoma survivors  

Microsoft Academic Search

Retinoblastoma patients have a strongly increased risk of second malignancies, and survivors with a third or subsequent malignancy are increasingly observed. However, it has not been examined whether survivors who developed a second malignancy have a greater risk of a subsequent malignancy. On the basis of the Dutch retinoblastoma registry, the risk of a third malignancy was compared with cancer

T. Marees; F. E. van Leeuwen; M. Schaapveld; S. M. Imhof; M. R. de Boer; W. A. Kors; P. J. Ringens; A. C. Moll

2010-01-01

174

Epidemiologic overview of malignant lymphoma  

PubMed Central

Malignant lymphoma encompasses a wide variety of distinct disease entities. It is generally more common in developed countries and less common in developing countries. The East Asia region has one of the lowest incidence rates of malignant lymphoma. The incidence of malignant lymphoma around the world has been increasing at a rate of 3-4% over the last 4 decades, while some stabilization has been observed in developed countries in recent years. The reasons behind this lymphoma epidemic are poorly understood, although improving diagnostic accuracy, the recent AIDS epidemic, an aging world population and the increasing adoption of cancer-causing behaviors are suggested as contributing factors. Etiologies of malignant lymphoma include infectious agents, immunodeficiency, autoimmune disease, exposure to certain organic chemicals, and pharmaceuticals. The distribution of many subtypes exhibit marked geographic variations. Compared to the West, T/natural killer (NK) cell lymphomas (T/NK-cell lymphoma) and extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma) are relatively more common, whereas other B-cell lymphomas, particularly follicular lymphoma and chronic lymphocytic leukemia/small lymphocytic lymphoma, are less common in Asia. Some subtypes of T/NK-cell lymphomas defined by Epstein-Barr virus association are predominantly Asian diseases, if not exclusively so. Both ethnic and environmental factors play roles in such diversity. In this review, we discuss the geographic distribution and etiology of malignant lymphoma, as well as the trend. PMID:22783355

2012-01-01

175

[MALIGNANT GASTRIC LEIOMYOBLASTOMA: CASE REPORT  

PubMed

The gastric leiomyoblastoma is a benign neoplasia -extremely uncommon and potentially malignant-, which arises from the muscular layer of the stomach. We present the case of a 21 year old male patient with this disease, who suddenly had intraperitoneal hemorrhage. He underwent an exploratory operation and the surgical findings showed an ulcerated and bleeding nodular tumor, located on the anterior wall and minor curvature of the gastric antrum, ulcerated and with active bleeding. A distal subtotal gastrectomy was performed, as well as a Billroth II-type gastroenteroanastomosis from the Hoffmeister-Finsterer variety. The anatomopathologic report was, "malignant gastric leiomyoblastoma". We discuss the clinical features and therapeutical options used. PMID:12219107

Díaz Plasencia, Juan; Tantaleán, Enrique; Guzmán, Rafael; Pomatanta Plasencia, Jorge; Grados Méndez, Johnny; Vilela, Carlos

1997-01-01

176

Dyskeratosis congenita with malignant transformation  

PubMed Central

Dyskeratosis congenita (DC) is a rare genodermatosis characterised by a classic triad of dystrophic nails, reticular skin pigmentation and mucous membrane leukoplakic patches, which have a high rate of malignant transformation. The case report presented here deals with a sporadic case of DC without similar clinical presentation in the first-degree and second-degree relatives. Of note in this case, there was rapid malignant transformation in the non-homogeneous nodulo-speckled leukoplakic patch on the dorsum of the tongue. PMID:22715219

Ray, Jay Gopal; Swain, Niharika; Ghosh, Ranjan; Richa; Pattanayak (Mohanty), Sweta

2011-01-01

177

Malignant Melanoma of the Rectum  

PubMed Central

Malignant melanoma of the rectum is an extremely rare disease. It typically presents in the fifth or sixth decade of life with nonspecific complaints such as rectal bleeding or anal pain. A timely diagnosis of anal melanoma is made even more difficult by the fact that most of the lesions lack obvious pigmentation and are even histologically amelanotic. Prognosis is very poor. Anorectal malignant melanomas spread along submucosal planes and are often beyond complete resection at the time of diagnosis. We present the radiological and pathological features seen in a 43-year-old woman diagnosed with melanoma of the rectum. PMID:24678436

Kohli, Supreethi; Narang, Seema; Singhal, Anu; Kumar, Vinod; Kaur, Omkar; Chandoke, Raj

2014-01-01

178

Malignant melanoma of the rectum.  

PubMed

Malignant melanoma of the rectum is an extremely rare disease. It typically presents in the fifth or sixth decade of life with nonspecific complaints such as rectal bleeding or anal pain. A timely diagnosis of anal melanoma is made even more difficult by the fact that most of the lesions lack obvious pigmentation and are even histologically amelanotic. Prognosis is very poor. Anorectal malignant melanomas spread along submucosal planes and are often beyond complete resection at the time of diagnosis. We present the radiological and pathological features seen in a 43-year-old woman diagnosed with melanoma of the rectum. PMID:24678436

Kohli, Supreethi; Narang, Seema; Singhal, Anu; Kumar, Vinod; Kaur, Omkar; Chandoke, Raj

2014-01-01

179

Second Malignant Neoplasms Following Radiotherapy  

PubMed Central

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

Kumar, Sanath

2012-01-01

180

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

PubMed Central

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

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

2012-01-01

181

Infantile neuroaxonal dystrophy. Ultrastructural study of peripheral nerve.  

PubMed

Ultrastructural study of the biopsied sural nerve in a case of infantile neuroaxonal dystrophy was made. The characteristic change in the ballooned axons is an accumulation of membranous profiles associated with mitochondria, glycogen like granules, dense bodies, vesicles and electron lucent material. The membranous profile is classified into three morphological types and discussed on each of them. Probably tubulomembranous profile of the first type is most common and may be cardinal deposit in this condition. These membranous structures of various types might be, however, only different manifestations occurring on the same morbid process. Enormous amount of glycogen like granules and mitochondria might be related to the metabolic derangement of carbohydrate in the ballooned axons. Electron lucent material we observed was not described in the previous papers on this condition. We added one more example showing that nerve biopsy is helpful to confirm the diagnosis in infantile neuroaxonal dystrophy. PMID:184642

Shimono, M; Ohta, M; Asada, M; Kuroiwa, Y

1976-09-15

182

A case of infantile neuroaxonal dystrophy: connatal Seitelberger disease.  

PubMed

We present a male stillbirth with infantile neuroaxonal dystrophy (connatal Seitelberger disease). Following the development of polyhydramnios with an ultrasound scan showing severe distal arthrogryposis, the mother was induced at 38 weeks. A moderately macerated severely intrauterine growth restricted male stillbirth was delivered. External microcephaly, sloping forehead, simplified palmar skin creases, fixed flexion deformities of the knees, severe talipes equinovarus, spinal scoliosis, and empty scrotum were present. The brain was microcephalic with normal gyration, having a hypoplastic corpus callosum, thinned insular cortex, and enlarged lateral ventricles. There was a progressive increase in axonal spheroids going in a rostrocaudal direction in the central nervous system with the preferential distal denervation of muscles, with their motor nerves showing axonal spheroids. The presence of axonal spheroids in both the central and peripheral nervous systems and electron microscopic appearances were diagnostic of infantile neuroaxonal dystrophy occurring in utero. PMID:18287574

Chow, Gabriel; Padfield, C James H

2008-04-01

183

Pauwels' osteotomy for surgical correction of infantile coxa vara.  

PubMed

Infantile coxa vara can be corrected by valgus osteotomies, but recurrence is high. Achieving an Hilgenreiner epiphyseal angle (HEA) of 40° or less prevents recurrence. In this study, Pauwels' osteotomy is stabilized using a rigid method of fixation. The aim of the study is to confirm previous reports regarding the correction of the physeal inclination to 40° or less to prevent recurrence. Thirty-one hips with infantile coxa vara were subjected to an intertrochanteric Y-shaped valgus osteotomy. In 27 hips, the HEA was corrected to 40° or less and none had a recurrence. This study confirms previous recommendations regarding the correction of HEA to 40° or less to avoid recurrence. PMID:22547145

Abdelaziz, Tarek Hassan; El-Sayed, Mohamed M

2012-07-01

184

Beta blocker treatment of infantile conjunctival hemangiomas--observations from 2 cases.  

PubMed

Infantile conjunctival hemangiomas are rare lesions in comparison to cutaneous and orbital capillary hemangiomas. They generally present several weeks following birth as a red stromal mass. Recent reports of cutaneous and orbital infantile hemangiomas involuting in response to oral or topical beta blocker treatment suggest that infantile conjunctival hemangiomas could respond similarly. We report 2 cases of presumed infantile hemangiomas of the conjunctiva. One, associated with cutaneous hemangiomas, did not respond to oral propranolol; the other was isolated and resolved with topical timolol. PMID:24568991

Chang, Ta C; Estes, Robert

2014-02-01

185

Diffusion magnetic resonance imaging in infantile neuroaxonal dystrophy.  

PubMed

A 7-month-old girl with infantile neuroaxonal dystrophy is reported. In diffusion MRI, the pyramidal tracts and dentate nuclei had high signal on b = 1,000 s/mm2 images and low apparent diffusion coefficient (ADC) values. This pattern likely reflected the presence of abnormal (dystrophic) axons with restricted mobility of water molecules. A reverse pattern was evident in the cerebellar cortex with high ADC values. This was likely a reflection of dysmyelination or lack of myelination. PMID:12544240

Sener, R Nuri

2003-01-01

186

Infantile neuroaxonal dystrophy. Schwann cell inclusion in the peripheral nerve.  

PubMed

Abnormal Schwann cell inclusion is reported in biopsied peripheral nerve in a case of infantile neuroaxonal dystrophy. In addition to non-specific dystrophic changes of the axons, the Schwann cells contained several distinct bodies which were composed of stacks of irregularly disposed membranes; in some instances, transformed Schwann cell cytoplasm was distined with similar bodies. This change has not been reported on this condition and its significance is briefly discussed. PMID:206093

Yagishita, S; Itoh, Y; Nakano, T; Oizumi, J; Okuyama, Y; Aoki, K

1978-03-15

187

Infantile neuroaxonal dystrophy in an albino girl. A cliniconeuropathologic study.  

PubMed

We present a cliniconeuropathologic study of infantile neuroaxonal dystrophy (INAD) in a 5-year-old Black girl with albinism. The clinical picture shows progressive psychomotor deterioration, beginning after 1 year of age, with hypotonia, pyramidal signs, optic atrophy, and deafness. Light-microscopic examination of the brain reveals wide distribution of spheroids, cerebellar atrophy, and neuronal loss with astrocytosis. This is the first described case of the combination of INAD with albinism. PMID:2986405

Wisniewski, K E; Laure-Kamionowska, M; Sher, J; Pitter, J

1985-01-01

188

Skin and conjunctival biopsies in infantile neuroaxonal dystrophy.  

PubMed

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. INAD is the first neurological disease outside the group of storage disorders in which skin and conjunctival biopsies contribute significiantly to the diagnosis. PMID:442990

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

1979-03-15

189

Infantile neuroaxonal dystrophy: neuroradiological studies in 11 patients  

Microsoft Academic Search

We report the imaging findings in 11 patients with infantile neuroaxonal dystrophy. Ten patients underwent 15 MRI examinations;\\u000a one patient had only CT. Of the ten patients who underwent MRI, eight had cerebellar atrophy and mildly increased signal from\\u000a the cerebellar cortex on T2-weighted images. With T2 weighting there was slightly increased signal from the dentate nuclei\\u000a in two patients

L. Farina; N. Nardocci; M. G. Bruzzone; L. D'Incerti; G. Zorzi; L. Verga; M. Morbin; M. Savoiardo

1999-01-01

190

Infantile Refsum's disease: Biochemical findings suggesting multiple peroxisomal dysfunction  

Microsoft Academic Search

Infantile Refsum's disease was diagnosed in three male patients, presenting with facial dysmorphia, retinitis pigmentosa,\\u000a neurosensory hearing loss, hepatomegaly, osteopenia and delayed growth and psychomotor development.\\u000a \\u000a An elevated plasma phytanic acid concentration and a deficient phytanic acid oxidase activity in fibroblasts were found with\\u000a an accumulation of very long chain fatty acids in plasma and fibroblasts. There were elevated pipecolic

B. T. Poll-The; J. M. Saudubray; H. Ogier; R. B. H. Schutgens; R. J. A. Wanders; G. Schrakamp; H. van den Bosch; J. M. F. Trijbels; A. Poulos; H. W. Moser; J. van Eldere; H. J. Eyssen

1986-01-01

191

Early experience with laparoscopic pyloromyotomy for infantile hypertrophic pyloric stenosis  

Microsoft Academic Search

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

A Najmaldin; H. L Tan

1995-01-01

192

Prenatal prescription of macrolide antibiotics and infantile hypertrophic pyloric stenosis  

Microsoft Academic Search

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

William O Cooper; Wayne A Ray; Marie R Griffin

2002-01-01

193

Pathogenesis of infantile hypertrophic pyloric stenosis: recent progress  

Microsoft Academic Search

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

K. Ohshiro; P. Puri

1998-01-01

194

Neuroleptic Malignant Syndrome: A Review  

PubMed Central

There has recently been interest in neuroleptic malignant syndrome (NMS) as the disorder has been better characterized. Nms is still poorly recognized, however, by most physicians. Hyperpyrexia, rigidity, altered consciousness, autonomic instability, and enzymatic evidence of muscle breakdown after drug intake are the cardinal features. The authors of this article review the proposed pathogenesis, complications, and treatment of NMS. PMID:21248945

O'Brien, Richard A.; Young, G. Bryan

1989-01-01

195

Malignant nodular hidradenoma of scalp.  

PubMed

Malignant nodular hidradenoma (MNH) is a rare tumor of sweat gland known by many names in the literature. Scalp is a known and yet uncommon site of occurrence. We describe two patients with scalp MNH with brain parenchymal invasion. Both tumors recurred in spite of total excision and radiotherapy. PMID:25288856

Maiti, Tanmoy; Somanna, Sampath; Devi, Bhagavatula Indira; Unchagi, Asha; Shukla, Dhaval

2014-10-01

196

Current therapy for malignant mesothelioma  

Microsoft Academic Search

This review briefly summarizes the results of previous systemic (chemotherapy) and local (surgery and radiotherapy) treatment\\u000a attempted to date for malignant mesothelioma. The prospects for newer modalities, ie molecular and biologic therapies, are also highlighted, including results of both preclinical and early clinical research.

W. Roy Smythe

2002-01-01

197

Rare variants of malignant melanoma  

Microsoft Academic Search

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

G. W. Milton; H. M. Shaw

1992-01-01

198

Proton MR spectroscopy reveals lactate in infantile neuroaxonal dystrophy (INAD).  

PubMed

Changes of cerebral metabolites detected by proton MR spectroscopy in two cases of infantile neuroaxonal dystrophy are described. A 6 11/12-year-old boy and a girl (aged 4 1/12 years at the first and 5 2/12 years at the second examination) with infantile neuroaxonal dystrophy were investigated by magnetic resonance imaging and spectroscopy of the basal ganglia. The signal intensity of the cerebellar cortex was increased on T2-weighted, proton density, and fluid attenuated inversion recovery images. The long echo time (135 ms) spectra revealed the presence of lactate in the basal ganglia of both cases in all investigations. The N-acetylaspartate/creatine ratio was reduced in Case 1 and in the second investigation of Case 2. The choline/creatine ratio was always increased. As the diagnosis of infantile neuroaxonal dystrophy is made by a synopsis of various clinical, neuropathological, neurophysiological, and neuroradiological data, the presence of lactate in the basal ganglia spectra may help to narrow down the diagnosis and can support the decision to perform more invasive diagnostic procedures (such as biopsies of skin, conjunctiva or even of the brain). PMID:11414651

Mader, I; Krägeloh-Mann, I; Seeger, U; Bornemann, A; Nägele, T; Küker, W; Grodd, W

2001-04-01

199

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

PubMed Central

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

2013-01-01

200

Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis  

SciTech Connect

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.

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

1995-06-05

201

Late infantile neuronal ceroid lipofuscinosis: a new mutation in Arabs.  

PubMed

The neuronal ceroid lipofuscinoses are a group of dominant neurodegenerative, progressive, and fatal disorders characterized clinically by myoclonic epilepsy, in variable association with dementia, ataxia, and visual loss. Neuronal ceroid lipofuscinoses were classified into several phenotypes according to their age of onset: infantile, late infantile, juvenile, and adult. A specific phenotype was named "northern epilepsy," and its onset of signs occurs between ages 5-10 years. Deficiencies in the lysosomal activity of two specific enzymes were found in several types of neuronal ceroid lipofuscinosis: palmitoyl-protein thioesterase 1, encoded by the CLN1 gene, and tripeptidyl-peptidase 1, encoded by the CLN2 gene. Several mutations in CLN2 were described previously. We describe a novel mutation in two siblings of Israeli-Arab origin, with a clinical picture compatible with late infantile neuronal ceroid lipofuscinosis. Both siblings were found to be homozygous for a deletion of a C nucleotide at position 775 in exon 7 of the CLN2 gene. These findings have implications for the worldwide epidemiology of neuronal ceroid lipofuscinosis. PMID:19748052

Goldberg-Stern, Hadassa; Halevi, Ayelet; Marom, Dafna; Straussberg, Rachel; Mimouni-Bloch, Aviva

2009-10-01

202

Venous thromboembolism in malignant gliomas  

PubMed Central

Summary Malignant gliomas are associated with a very high risk of venous thromboembolism (VTE). While many clinical risk factors have previously been described in brain tumor patients, the risk of VTE associated with newer anti-angiogenic therapies such as bevacizumab in these patients remains unclear. When VTE occurs in this patient population, concern regarding the potential for intracranial hemorrhage complicates management decisions regarding anticoagulation, and these patients have a worse prognosis than their VTE-free counterparts. Risk stratification models identifying patients at high risk of developing VTE along with predictive plasma biomarkers may guide the selection of eligible patients for primary prevention with pharmacologic thromboprophylaxis. Recent studies exploring disordered coagulation, such as increased expression of tissue factor (TF), and tumorigenic molecular signaling may help to explain the increased risk of VTE in patients with malignant gliomas. PMID:19912518

JENKINS, E. O.; SCHIFF, D.; MACKMAN, N.; KEY, N. S.

2010-01-01

203

Tumor Metabolism of Malignant Gliomas  

PubMed Central

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

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

2013-01-01

204

Unusual variants of malignant melanoma  

Microsoft Academic Search

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

Cynthia M Magro; A Neil Crowson; Martin C Mihm

2006-01-01

205

Angiogenesis in Malignant Fibrous Histiocytoma  

Microsoft Academic Search

The significance of neovascularization for tumor growth and metastasis has recently been postulated for human cancers; increased microvessel density correlates with increased frequency of metastasis. In the present study, micro-vessel density was examined in 42 cases of malignant fibrous histiocytoma (MFH). Microvessels were defined as lumens surrounded by anti-factor-VIII-related antigen (FVIII-RA)-antibody-stained endothelium, and counted in a × 400 field. The

Masahiko Ohsawa; Yasuhiko Tomita; Shigeyuki Kuratsu; Hiroyuki Kanno; Katsuyuki Aozasa

1995-01-01

206

Molecular biology of malignant gliomas  

Microsoft Academic Search

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

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

2006-01-01

207

Infantile Autism and Other Childhood Psychoses in a Swedish Urban Region. Epidemiological Aspects.  

ERIC Educational Resources Information Center

A total population screening of children born from 1962 to 1976 who lived in the Gothenberg region at the end of 1980 was carried out to obtain prevalence figures for infantile autism and other childhood psychoses. Prevalence was found to be approximately two per 10,000; boys were more affected by infantile autism than were girls. (RH)

Gillberg, C.

1984-01-01

208

La formació permanent del professorat d'educació infantil: elements de reflexió  

Microsoft Academic Search

Las características específicas del colectivo de profesionales de la etapa de Educación infantil proyectan una dinámica muy activa que genera nuevas metodologías, estrategias y recursos para una intervención educativa de calidad, en una etapa de vital importancia para el correcto desarrollo infantil. Estas características han de tenerse en cuenta en la formación de formadores del profesorado de esta etapa educativa,

Otília Defis i Peix; Ferran A. Candela; Francesc Martínez Olmo; Silvia Morón Sompolinski; Maria Vinuesa

2006-01-01

209

Malignant cancer and invasive placentation  

PubMed Central

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

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

2014-01-01

210

[MRI as an aid for diagnosis of infantile neuroaxonal dystrophy].  

PubMed

We experienced a 5-year-old girl, who had presented with nystagmus and psychomotor regression since 1 year old. No clinical diagnosis had been made despite various examinations including lysosomal enzymes and muscle biopsy. Her brain magnetic resonance imaging (MRI) revealed increased a T2 signal in bilateral cerebellar hemisphere. Recently this MRI finding was reported as a typical feature of infantile neuroaxonal dystrophy (INAD). Then we performed the second biopsy from her peripheral nerve, and diagnosed her as having INAD. It was suggested that MRI was a useful aid for the diagnosis of INAD. PMID:1389334

Ishii, M; Tanabe, Y; Goto, M; Sugita, K

1992-09-01

211

Ictal video-EEG analysis of infantile neuroaxonal dystrophy.  

PubMed

A 4-year-old boy with infantile neuroaxonal dystrophy (INAD) showed gradual deterioration from age 9 months with seizure development at age approximately 36 months. Sural nerve biopsy performed at age 42 months confirmed INAD. The seizure, recorded by video-EEG, consisted of a series of symmetrical tonic spasms of both upper extremities after a prodrome period of staring and akinesis. Each spasm had phonation, and episodic autonomic symptoms such as hypertension and flushing of the face occurred throughout the seizure. Ictal EEG with each tonic spasm, showed diffuse 1-s, irregular sharp and high-voltage slow wave complexes followed by desynchronization. PMID:8082629

Wakai, S; Asanuma, H; Hayasaka, H; Kawamoto, Y; Sueoka, H; Ishikawa, Y; Minami, R; Chiba, S

1994-01-01

212

Infantile neuroaxonal dystrophy (Seitelberger's disease). A light and ultrastructural study.  

PubMed

The findings in a case of infantile neuroaxonal dystrophy are presented. Light microscopy shows wide distribution of spheroids, cerebullar atrophy and striatal degeneration. Electron microscopy shows numerous spheroids consisting of tubulo-vesiculo-membranous profiles. The dystrophic changes appear first in the axon seem to be modified by axostasis and/or transneuronal degeneration in addition to the dystrophic changes. The participation of the endoplasmic reticulum and microtubules in spheroid formation and their relation to the malformation of the synaptic vesicles have been discussed. Diverse mitochondrial abnormalities and Hiranolike body are also described. PMID:1138528

Yagishita, S; Kimura, S

1975-01-01

213

Axonal pathology of the skin in infantile neuroaxonal dystrophy.  

PubMed

Ultrastructural studies on the skin of two patients affected by infantile neuroaxonal dystrophy (INAD) were performed to evaluate its diagnostic value and to discuss the etiology of INAD. While the majority of terminal axons around intradermal glands were dystophic consisting of tubulomembranous and tubulovesicular profiles sometimes accompanied by synaptic vesicles, there were only few dystophic axons inside intradermal nerve bundles. These observations suggest that the primary lesion of INAD is located in terminal and presynaptic axons. Therefore, terminal axons have to be investigated when a diagnostic skin biopsy is performed in INAD. PMID:3434228

Kimura, S; Sasaki, Y; Warlo, I; Goebel, H H

1987-01-01

214

Early cerebellar degeneration in twins with infantile neuroaxonal dystrophy.  

PubMed

Dizygotic twin girls with typical infantile neuroaxonal dystrophy (INAD) were studied at age 19 months with computed tomography and magnetic resonance imaging (MRI). Both methods showed distinct atrophy confined to the cerebellum and MRI revealed diffuse signal abnormality of the cerebellar parenchyma. This neuro-imaging evidence for selective early involvement of the cerebellum is consistent with both the typical presenting symptoms and the gross pathological findings in the disorder. Neuroimaging may aid in differentiation of INAD from other neurodegenerative disorders with onset in late infancy, providing impetus for diagnostic biopsy and early genetic counseling. PMID:2540694

Barlow, J K; Sims, K B; Kolodny, E H

1989-04-01

215

Infantile neuroaxonal dystrophy: axonal changes in biopsied muscle tissue.  

PubMed

Dystrophic axons were found in the biopsied muscle tissue of a 17-month-old hypotonic infant after confirmation of a diagnosis of infantile neuroaxonal dystrophy (INAD) by subsequent peripheral nerve biopsy. He manifested gradual deterioration and had brief tonic seizures. The sural nerve biopsy, performed at age 42 months, confirmed INAD. Intensive ultrastructural investigation of the preceding muscle biopsy specimens demonstrated infrequent but definite findings of axonal degeneration in the musculature. Ultrastructural investigation of muscle biopsy should include a careful search for neural tissue because in INAD axonal changes occur primarily in the presynaptic region. PMID:8216545

Wakai, S; Asanuma, H; Tachi, N; Ishikawa, Y; Minami, R

1993-01-01

216

Infantile hypertrophic pyloric stenosis: Does size really matter?  

PubMed

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

Hsu, Peter; Klimek, Jan; Nanan, Ralph

2014-10-01

217

Immune therapies for malignant mesothelioma.  

PubMed

Malignant mesothelioma (MM) is a rare disease which can develop in pleura, pericardium or peritoneum and in which the therapies available have limited efficacy and are associated with various side effects. Therefore, there is a need for more targeted and more effective therapies which are able to halt the disease progression. Among them immune therapies actively or passively directed against various structures of the MM cells seem to be particularly promising given their inhibitory potential demonstrated in both experimental and early clinical studies. Mesothelin in particular seem to be not only a biomarker of disease activity but also a therapeutic target. This review discusses the immune therapies currently investigated for MM. PMID:24833011

Antoniu, Sabina Antonela; Dimofte, Gabriel; Ungureanu, Didona

2014-08-01

218

Pulmonary malignant granular cell tumor  

PubMed Central

Background Malignant granular cell tumor (MGCT) is a rare disease entity. Forty-one well-documented MGCTs have been reported in the world literature. Case Report This report describes a patient who presented with a MGCT of the lung and reviews the preoperative evaluation, pathologic features and differential diagnosis of the disease. This case represents the first report of resected primary pulmonary MGCT. Conclusions Diagnosis of MGCT is based on histology of the primary tumor, immunohistochemistry, and exclusion of tumors that may mimic granular cell tumor. PMID:14613555

Jiang, Ming; Anderson, Timothy; Nwogu, Chukwumere; Tan, Dongfeng

2003-01-01

219

Vaccine therapies for pediatric malignancies.  

PubMed

Cancer vaccines are examples of active immunotherapy. In pediatric malignancy such active strategies may be particularly problematic because of immune suppression produced by the tumor or its intensive treatment with combined chemotherapy. Nonetheless, the expression of tumor-specific and tumor-associated antigens on a range of pediatric tumors has encouraged investigation of the approach in patients with either bulky or minimal residual disease. Here we describe promising results in neuroblastoma and acute leukemia, suing genetically modified whole cell vaccines, peptides, and dendritic cells. The difficulties of conducting and evaluating such studies in a pediatric population are also described, and a strategy for cancer vaccine development is outlined. PMID:16197723

Rousseau, Raphaël F; Brenner, Malcolm K

2005-01-01

220

Primary cutaneous malignant melanoma of the breast  

PubMed Central

Cutaneous malignant melanoma of the breast can be divided into two categories: primary and metastatic lesions. Cutaneous malignant melanoma of the breast is a rare tumor, accounting for less than 5% of all malignant melanomas. Clinical features and diagnostic methods of primary cutaneous malignant melanoma of the breast are similar to those arising from other cutaneous areas. Treatment of choice is wide local excision with adequate resection margin according to tumor thickness. Sentinel lymph node biopsy should be performed because the presence of lymph node metastasis is the most important prognostic factor. There have been only limited reports involving primary cutaneous malignant melanoma of the breast. Thus, we report a case of primary cutaneous malignant melanoma in a 59-year-old woman with a review of the recent literature. PMID:23230558

Kim, Seon Kwang; Kim, Young Wook; Park, Ho Sung; Jung, Sung Hoo

2012-01-01

221

Dysmorphic face in two siblings with infantile neuroaxonal dystrophy.  

PubMed

Infantile neuroaxonal dystrophy (INAD) is an autosomal recessive, neurodegenerative disease with onset in the first or second year of life. It has been reported that INAD shows numerous phenotype characteristics including problems associated with vision, hearing and physical coordination. It has however been very rare to see facial dysmorphism in these children. The study analyzes a girl and boy of a first cousin marriage with infantile neuroaxonal dystrophy affected at birth. At infancy, the children were examined in the Cerrahpa?a Medical Faculty Genetic Research Center, Istanbul. They had typical INAD features such as the lack of head control, vision, speech, sitting, and walking which are also seen in children with other congenital abnormalities. These children showed remarkable dysmorphism in the face which included prominent forehead, strabismus, small nose, fish mouth (boy), micrognathia, and large and low-settled ears. The presence of these facial features makes the patients appear unique and diagnosis more accurate. While these features are commonly seen diagnosis may be difficult at its onset. Until now this appearence has not been reported in INAD patients. In conclusion, in the first few months of life without any clinical or neurological signs, the physician should also consider diagnosing the disease of the infant as INAD. PMID:12558119

Seven, M; Ozkiliç, A; Yüksel, A

2002-01-01

222

[Thalidomide therapy for infantile-onset Crohn's disease].  

PubMed

A 6-month-old boy was diagnosed as having Crohn's disease (CD) by the endoscopic examination. Primary immunodeficiency syndrome was initially suspected due to a refractory infection that occurred just after birth and a family history that his older brother died at the age of 3 months of septicemia associated with perirectal abscess. Thalidomide was used because conventional medical treatment by steroids and immunosuppressives was ineffective. Thalidomide improved the symptoms of diarrhea, abdominal pain, high fever and fistula, and the PCDAI score decreased markedly from 45 to 15. Although thalidomide was discontinued after three months because of the onset of side effects, including edema, rash and the peripheral neuropathy, the effect on the fistula closure was maintained over a long period of time. Further studies will be necessary to determine the dosage of thalidomide that does not elicit side effects, but thalidomide seems to be effective in patients with refractory CD. Infantile CD is very rare and the diagnosis is often delayed. CD is generally resistant to medical treatment. More detailed information of infantile CD will be needed to elucidate the pathogenesis of this disease and progress of treatment. Recently the incidence of inflammatory bowel diseases has increased. CD should be suspected in any infant with the perianal lesion (fissures, fistula, skin tag and abscesses) especially when prolonged gastrointestinal symptoms, stomatitis or fever coexist. PMID:15863968

Kabuki, Tomoyuki; Ogimi, Chikara; Tanaka, Risa; Ikematsu, Kaori; Joh, Kohsuke; Kagimoto, Seiichi; Oh-Ishi, Tsutomu

2005-04-01

223

The relationship between infantile atopic dermatitis and urinary tract infection.  

PubMed

Atopic dermatitis (AD) is one of the most common infantile diseases. Immunological dysfunctions in AD patients may predispose them to infections. The aim of this study was to evaluate the relationship between infantile AD and urinary tract infection (UTI).In this cross sectional study, we enrolled 57 patients with AD aged 1 to 24 months that referred to dermatology clinic, and 57 healthy controls who were referred to pediatric clinic. The groups were matched according to age and gender. Urine samples were collected by clean-voided bag method. If a single organism was cultured at concentration of > or = 105 organisms per millimeter and the existence of white blood cells more than 10 per microscopic field was seen the patients underwent suprapubic aspiration. The presence of one organism in suprapubic aspiration sample was regarded as positive culture. Data were analyzed using SPSS version 15 software. P value <0.05 was considered as the level of significance. Twelve (21.1%) of AD patients and 1(1.8%) of normal controls had positive urine culture tests. The difference between two groups was statistically significant (p = 0.001). The most common bacteria was E-coli. Infants with AD showed a higher frequency of UTI in this study. So, we suggest screening all AD infants for urinary tract infection. PMID:20404392

Farajzadeh, Saeedeh; Ghazanfari, Farzaneh; Esfandiarpour, Iraj; Shahesmaeili, Armita; Rahnama, Zahra; Aghaei, Hamideh

2009-12-01

224

Leuloplakia - review of a potentially malignant disorder.  

PubMed

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

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

2014-08-01

225

Leuloplakia - Review of A Potentially Malignant Disorder  

PubMed Central

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

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

2014-01-01

226

Delayed Onset Malignant Hyperthermia after Sevoflurane  

PubMed Central

Malignant hyperthermia is a hypermetabolic response to inhalation agents (such as halothane, sevoflurane, and desflurane), succinylcholine, vigorous exercise, and heat. Reactions develop more frequently in males than females (2?:?1). The classical signs of malignant hyperthermia are hyperthermia, tachycardia, tachypnea, increased carbon dioxide production, increased oxygen consumption, acidosis, muscle rigidity and rhabdomyolysis. In this case report, we present a case of delayed onset malignant hyperthermia-like reaction after the second exposure to sevoflurane. PMID:23819066

Turhan, K. Sanem Cakar; Baytas, Volkan; Batislam, Yesim; Ozatamer, Oya

2013-01-01

227

Targeted Therapies for Malignant Glioma  

PubMed Central

Malignant gliomas represent one of the most aggressive forms of brain cancer. Recent advances in the understanding of the deregulated molecular pathways of gliomas have brought about targeted therapies that have the ability to increase therapeutic efficacy in tumors while decreasing toxicity. Multi-targeted kinase inhibitors, novel monoclonal antibodies, and new vaccines have been developed. Standard treatments and current development of new therapies for malignant gliomas are reviewed, focusing specifically on growth factors and their receptors (e.g. epidermal growth factor receptor, vascular endothelial growth factor receptor, and platelet-derived growth factor receptor), as well as the intracellular effector molecules that are downstream of these growth factors (e.g. Ras/Raf/mitogen-activated protein kinase, phosphatidylinositol 3-kinase/AKT/mammalian target of rapamycin, and protein kinase C). The efficacies of other novel targeted inhibitors such as deacetylase inhibitors and heat shock protein 90 inhibitors in the treatment of gliomas are also discussed, as well as new combination therapies. In order for new agents to increase treatment efficacy, new targets need to be developed, drug delivery efficiency needs to be improved, and new biomarkers need to be discovered. All of these goals can be accomplished with time through innovative experimental designs. PMID:19344189

Mercer, Ronald W.; Tyler, Matthew A.; Ulasov, Ilya V.; Lesniak, Maciej S.

2009-01-01

228

Genome sequencing of lymphoid malignancies.  

PubMed

Our understanding of the pathogenesis of lymphoid malignancies has been transformed by next-generation sequencing. The studies in this review have used whole-genome, exome, and transcriptome sequencing to identify recurring structural genetic alterations and sequence mutations that target key cellular pathways in acute lymphoblastic leukemia (ALL) and the lymphomas. Although each tumor type is characterized by a unique genomic landscape, several cellular pathways are mutated in multiple tumor types-transcriptional regulation of differentiation, antigen receptor signaling, tyrosine kinase and Ras signaling, and epigenetic modifications-and individual genes are mutated in multiple tumors, notably TCF3, NOTCH1, MYD88, and BRAF. In addition to providing fundamental insights into tumorigenesis, these studies have also identified potential new markers for diagnosis, risk stratification, and therapeutic intervention. Several genetic alterations are intuitively "druggable" with existing agents, for example, kinase-activating lesions in high-risk B-cell ALL, NOTCH1 in both leukemia and lymphoma, and BRAF in hairy cell leukemia. Future sequencing efforts are required to comprehensively define the genetic basis of all lymphoid malignancies, examine the relative roles of germline and somatic variation, dissect the genetic basis of clonal heterogeneity, and chart a course for clinical sequencing and translation to improved therapeutic outcomes. PMID:24041576

Mullighan, Charles G

2013-12-01

229

Rare variants of malignant melanoma.  

PubMed

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 the mouth have a higher malignant potential. Local excision of all 5 forms of primary melanomas, no matter how locally advanced they may be, is the sole treatment. Nevertheless, anatomic constraints often preclude surgery with generous margins and consequently local recurrence, particularly for conjunctival, nasal, and oral primary lesions, is usually the major first failure in treatment. Lymph node dissection is only performed if the regional nodes are palpable at the time of first presentation. Elective lymph node dissections are not performed since the patients are often elderly, the lymphatic drainage is usually ambiguous or multiple, and the disease tends to spread hematogenously rather than lymphatically. Surgery still remains the cornerstone of treatment for these rare forms of melanoma but prognosis is very poor since surgery is often a palliative rather than a curative measure. Improved survival may depend on identifying more effective chemotherapeutic and immunologic agents. PMID:1561796

Milton, G W; Shaw, H M

1992-01-01

230

Imaging probe for tumor malignancy  

NASA Astrophysics Data System (ADS)

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.

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

2009-02-01

231

Digital ischemia as a manifestation of malignancy.  

PubMed Central

The association of malignancy with thrombotic disorders of the arterial and venous systems is well described. To date, however, there are only 23 published case reports of digital gangrene associated with malignancy. During a prospective evaluation of over 700 patients with finger ischemia, there were five patients with finger gangrene associated with malignancy. Detailed clinical and laboratory evaluation, including detailed immunologic survey and hand angiography, allowed establishment of the precise mechanisms responsible for vascular occlusions in each patient. Three mechanisms were identified: arteritis, hyperviscosity, and hypercoagulability. Digital gangrene associated with malignancy is a rare condition, the mechanism for which can be deduced by careful diagnostic evaluation. Images Fig. 1. PMID:3606232

Taylor, L M; Hauty, M G; Edwards, J M; Porter, J M

1987-01-01

232

[Generalized infantile neuroaxonal dystrophies with pigmentation and lipophanerosis of the pallidum in concordant twins (author's transl)].  

PubMed

Monozygotic male twins died at the age of 6 1/2 and 7 1/2 years respectively after a progressive course of mental deterioration, hypotonia, spasticity, optic atrophy and seizures that had commenced at the age of 2 years. Both patients showed generalized neuroaxonal dystrophy (NAD), marked by numerous spheroids, iron-positive pigment and lipophanerosis of the pallidum. NAD can be classified as a generalized form without pigmentation of the pallidum (infantile type of Seitelberger), a juvenile type of Rozdilsky, a generalized form with pigmentation (cases described here), and localized forms (infantile, late infantile, juvenile = classic Hallervorden-Spatz disease, adult types). PMID:183173

Peiffer, J; Brunner, N; Landolt, R F; Müller, G; Schlote, W

1976-08-01

233

Ulcerated malignant spindle-cell neoplasm of the finger: Malignant peripheral nerve sheath tumor or desmoplastic malignant melanoma?  

Microsoft Academic Search

Extract: Malignant peripheral nerve sheath tumors (MPNSTs) usually occur in the deep soft tissues in patients with neurofibromatosis type 1 (NF-1) in association with or arising from a peripheral nerve, but MPNSTs may also occur in patients without evidence of NF-1. MPNSTs used to be referred to as neurofibrosarcomas, neurogenic sarcomas, malignant schwannomas, and ‘‘Triton tumors’’ when heterologous mesenchymal elements

Thomas Connelly; Joan Mones; Anthony Dixon

2009-01-01

234

Malignant neoplasms metastatic to gingivae.  

PubMed

Malignant neoplasms metastatic to the gingivae are rare. Our review of the literature revealed only eight acceptable examples. We are reporting two additional cases. One patient was a 58-year-old man with an adenocarcinoma of the lung which metastasized bilaterally to the maxillary gingiva. The second patient was a 27-year-old man with a synovial sarcoma which metastasized to multiple sites in the maxillary and mandibular gingiva. Clinically, gingival metastatic lesions are most often confused with hemangioma, pyogenic granuloma, giant-cell granuloma, and pepripheral fibroma. They usually occur late in the course of the disease and are associated with metastatic deposits in many other organs and tissues. Death usually occurs in a few weeks or months after discovery of the gingival metastasis. PMID:9634377

Ellis, G L; Jensen, J L; Reingold, I M; Barr, R J

1977-08-01

235

Thigmotropism of malignant melanoma cells.  

PubMed

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

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

2012-01-01

236

Cachexia and anorexia in malignancy.  

PubMed

The cancer cachexia syndrome may be present in up to 80% of patients with cancer. Malnutrition resulting from cancer cachexia is a significant cause of morbidity and mortality. Anorexia, tissue wasting, and weight loss appear to be the result of metabolic abnormalities caused by host cytokine production in response to the tumor. The host cytokines include TNF-alpha, IL-1, IL-6, IFN-gamma, and D-factor. Nutritional support in the patient with cancer has been controversial, with the belief that tumor growth may be augmented; however, human studies fail to confirm that tumor growth occurs in excess of normal tissue growth. The efficacy of nutritional support in the cancer has not been adequately studied. Considerable interest exists in providing nutritional support pharmacologically to modify the response to malignancy. PMID:8811301

Albrecht, J T; Canada, T W

1996-08-01

237

[PET and malignant cerebral tumors].  

PubMed

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

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

2006-09-01

238

Malignant hyperthermia in endosulfan poisoning.  

PubMed

We are reporting a case of endosulfan poisoning, admitted in a state of altered consciousness, vomiting, and seizure. The diagnosis was based on history, physical examination and positive reports from toxicological screening. After 8 hrs of admission, a sudden rise in EtCO(2), respiratory rate, heart rate, blood pressure, and body temperature was noted. Masseter spasm was there and patient's elbow/knees could not be bent upon manipulation. Caffeine halothane contraction test later confirmed it to be malignant hyperthermia (MH). We suggest that if there is a sudden rise in body temperature, stiffness in limbs or massater spasm in a case of endosulfan poisoning, the diagnosis of MH should be considered as one possibility when etiology is not certain. PMID:22736908

Jain, Gaurav; Singh, Dinesh K; Yadav, Ghanshyam

2012-01-01

239

Biphasic behaviour in malignant invasion.  

PubMed

Invasion is an important facet of malignant growth that enables tumour cells to colonise adjacent regions of normal tissue. Factors known to influence such invasion include the rate at which the tumour cells produce tissue-degrading molecules, or proteases, and the composition of the surrounding tissue matrix. A common feature of experimental studies is the biphasic dependence of the speed at which the tumour cells invade on properties such as protease production rates and the density of the normal tissue. For example, tumour cells may invade dense tissues at the same speed as they invade less dense tissue, with maximal invasion seen for intermediate tissue densities. In this paper, a theoretical model of malignant invasion is developed. The model consists of two coupled partial differential equations describing the behaviour of the tumour cells and the surrounding normal tissue. Numerical methods show that the model exhibits steady travelling wave solutions that are stable and may be smooth or discontinuous. Attention focuses on the more biologically relevant, discontinuous solutions which are characterised by a jump in the tumour cell concentration. The model also reproduces the biphasic dependence of the tumour cell invasion speed on the density of the surrounding normal tissue. We explain how this arises by seeking constant-form travelling wave solutions and applying non-standard phase plane methods to the resulting system of ordinary differential equations. In the phase plane, the system possesses a singular curve. Discontinuous solutions may be constructed by connecting trajectories that pass through particular points on the singular curve and recross it via a shock. For certain parameter values, there are two points at which trajectories may cross the singular curve and, as a result, two distinct discontinuous solutions may arise. PMID:16627537

Marchant, Ben P; Norbury, John; Byrne, Helen M

2006-09-01

240

Perioperative intraperitoneal chemotherapy for peritoneal surface malignancy  

Microsoft Academic Search

The treatment of peritoneal surface malignancy mainly focuses on diffuse malignant peritoneal mesothelioma, pseudomyxoma peritonei from appendiceal cancer, and peritoneal dissemination from gastrointestinal and ovarian cancers. Cancer progression causes peritoneal implants to be distributed throughout the abdominopelvic cavity. These nodules plus the ascitic fluid result in abdominal distension. As the disease progresses, these tumors cause intestinal obstruction leading to debilitating

Tristan D Yan; Oswald A Stuart; Dal Yoo; Paul H Sugarbaker

2006-01-01

241

Malignant solitary fibrous tumor of the meninges  

Microsoft Academic Search

Increasing numbers of solitary fibrous tumors (SFTs) in the meninges have been reported since this entity was first recognized. While most cases previously reported were considered to be benign, the malignant potential of extrathoracic SFTs has not been excluded. The authors report a rare case of a meningeal SFT with malignant behavior occurring in a Japanese female patient, initially resected

Kumiko Ogawa; Toyohiro Tada; Satoru Takahashi; Naotake Sugiyama; Shingo Inaguma; Seishiro S. Takahashi; Tomoyuki Shirai

2004-01-01

242

Benign clavicular lesions that may mimic malignancy  

Microsoft Academic Search

Nontraumatic lesions of the clavicle are infrequent. Of these, malignant tumors are more common than benign lesions. From January 1988 to January 1990, we examined 17 patients with benign lesions of the clavicle; in 8, the morphologic appearance of the lesion raised the possibility of malignancy in the differential diagnosis. The radiologic findings in these patients are presented. We propose

Eugenio O. Gerscovich; Adam Greenspan; Robert M. Szabo

1991-01-01

243

Diagnosis and management of malignant pleural effusions  

Microsoft Academic Search

Approximately half of all patients with metastatic cancer develop malignant pleural effusions. Because the patients are already terminally ill, these effusions can present significant diagnostic and therapeutic challenges. Symptoms are either present at the time of diagnosis or develop subsequently in virtually all cases. The diagnosis is based on chest radiography followed by thoracentesis or thoracoscopy. Most malignant effusions are

Kathieen N. Fenton; J. David Richardson

1995-01-01

244

Leptomeningeal metastasis from malignant pleural mesothelioma.  

PubMed

Leptomeningeal metastasis from malignant mesothelioma is very rare; to our knowledge, only one imaging report exists in the literature. We present the case of widespread leptomeningeal lesions secondary to a malignant mesothelioma in a 61-year-old woman. PMID:15313714

Petrovic, Boris D; Kozic, Dusko B; Semnic, Robert R; Prvulovic, Mladen; Djilas-Ivanovic, Dragana; Sener, R Nuri; Klem, Istvan

2004-08-01

245

Primary malignant melanoma of the male urethra.  

PubMed

Primary malignant melanoma of the male urethra is a rare disease, with only 24 cases previously reported in the literature, including 1 black patient. We describe 2 additional patients with primary malignant melanoma of the urethra, one of whom was a black man. The literature is reviewed briefly and treatment recommendations are discussed. PMID:3286893

Pow-Sang, J M; Klimberg, I W; Hackett, R L; Wajsman, Z

1988-06-01

246

Malignant Melanoma with Probable Smooth Muscle Differentiation  

PubMed Central

Malignant melanomas occasionally exhibit various divergent differentiation types. Of these, smooth muscle differentiation is extremely rare; only 1 case has been reported in the literature until recently. We report an extremely rare case of malignant melanoma with smooth muscle differentiation, which appeared as an amelanotic reddish nodule on the left toe. PMID:24575006

Morimoto, Aya; Asai, Jun; Wakabayashi, Yusuke; Komori, Satoshi; Hanada, Keiji; Takenaka, Hideya; Konishi, Eiichi; Katoh, Norito

2014-01-01

247

Malignant melanoma with probable smooth muscle differentiation.  

PubMed

Malignant melanomas occasionally exhibit various divergent differentiation types. Of these, smooth muscle differentiation is extremely rare; only 1 case has been reported in the literature until recently. We report an extremely rare case of malignant melanoma with smooth muscle differentiation, which appeared as an amelanotic reddish nodule on the left toe. PMID:24575006

Morimoto, Aya; Asai, Jun; Wakabayashi, Yusuke; Komori, Satoshi; Hanada, Keiji; Takenaka, Hideya; Konishi, Eiichi; Katoh, Norito

2014-01-01

248

Malignancy markers in the cerebrospinal fluid  

Microsoft Academic Search

The specificity and sensitivity of malignancy marker determinations in cerebrospinal fluid (CSF) are often insufficient. Even at the subclinical stage of the disease the marker should be present. The effect of therapy should be monitored and relapses noted. Thus high standards of methodology are required. There are many substances that may indicate a malignant process in the central nervous system.

M. Koskiniemi

1988-01-01

249

Malignancy in Children with Trisomy 21  

Microsoft Academic Search

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

KAREN R. RABIN; JAMES A. WHITLOCKb

250

Permanent pacing for cardioinhibitory malignant vasovagal syndrome  

Microsoft Academic Search

OBJECTIVE--To evaluate the effect of permanent pacing in cardioinhibitory malignant vasovagal syndrome. PATIENTS AND METHODS--37 patients with permanent pacemakers for cardioinhibitory malignant vasovagal syndrome. All presented with syncope (median six episodes, median frequency two episodes a year) and after conventional investigation and invasive electrophysiological assessment they remained undiagnosed, and without a generally accepted indication for pacemaker implantation. In all vasovagal

M. E. Petersen; R. Chamberlain-Webber; A. P. Fitzpatrick; A. Ingram; T. Williams; R. Sutton

1994-01-01

251

Implications of delayed diagnosis of infantile spasm in a child with Down syndrome  

PubMed Central

Trisomy 21, leading to Down syndrome (DS) is the most common genetic cause of intellectual disability. Approximately 1–13% of children with DS have co-morbid seizures, with infantile spasm being the most frequent type of seizure identified. Although the clinical and electroencephalography findings of infantile spasm are similar between children with DS and typically developing children, there is often a delay in the diagnosis of these seizures in children with DS. We present the case of a male infant with DS, where the diagnosis of infantile spasm was delayed by 5 mo. His case was associated with developmental regression and intractable seizure activity following diagnosis. The case highlights the implications of delayed diagnosis on treatment strategies and developmental outcomes. Keywords: Down syndrome, infantile spasm, delayed diagnosis PMID:25309120

Buterbaugh, Allison; Visootsak, Jeannie

2014-01-01

252

Management of malignant hyperthermia: diagnosis and treatment  

PubMed Central

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

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

2014-01-01

253

From Melanocyte to Metastatic Malignant Melanoma  

PubMed Central

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

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

2010-01-01

254

Neuroaxonal dystrophy in infantile alpha-N-acetylgalactosaminidase deficiency.  

PubMed

Morphologic alterations in biopsies of central and peripheral nervous tissue were investigated at the light-and electron-microscopic level in the first cases of lysosomal alpha-N-acetylgalactosaminidase deficiency. Widespread spheroid formation was observed in terminal and preterminal axons. Neocortical and peripheral autonomic axons contained tubulovesicular and lamelliform membranous arrays, prominent acicular clefts, and electron-dense axoplasmic matrix, the typical ultrastructural abnormalities corresponding to axonal spheroids in many inherited and acquired axonopathies. Central and peripheral membranous distal axonal spheroids were the only neuropathologic abnormality identified; other alterations resembling those in various neuronopathic lysosomal storage diseases were not observed. The morphologic findings and the distribution of the lesion in the present disorder are remarkably similar to those reported in the inherited infantile form of neuroaxonal dystrophy with normal alpha-N-acetylgalactosaminidase activity (Seitelberger disease). PMID:8523030

Wolfe, D E; Schindler, D; Desnick, R J

1995-09-01

255

Infantile neuroaxonal dystrophy: neuroradiological studies in 11 patients.  

PubMed

We report the imaging findings in 11 patients with infantile neuroaxonal dystrophy. Ten patients underwent 15 MRI examinations; one patient had only CT. Of the ten patients who underwent MRI, eight had cerebellar atrophy and mildly increased signal from the cerebellar cortex on T2-weighted images. With T2 weighting there was slightly increased signal from the dentate nuclei in two patients and from the posterior periventricular white matter in three. We saw four patients with a thin optic chiasm. The only two brothers in the series had markedly low signal from the globus pallidus and substantia nigra on 1.5 T T2-weighted images, as seen in Hallervorden-Spatz disease (HSD). Abnormalities of the globus pallidus may be related to a protracted course of the disease. However, an overlap with HSD should be considered. PMID:10379598

Farina, L; Nardocci, N; Bruzzone, M G; D'Incerti, L; Zorzi, G; Verga, L; Morbin, M; Savoiardo, M

1999-05-01

256

[Gluten-free diet in infantile autism. A therapeutic trial].  

PubMed

It has been postulated that there may be a connection between wheat-gluten/milk-casein and mental disorders such as schizophrenia, hyperactivity and autism. In this study seven patients with infantile autism, three before puberty and four after puberty, were given a gluten-free diet. Three children were provoked with gluten/placebo in a double-blind study. Four young patients participated in an open study and were given a gluten-free diet in six months. Behaviour was registered before, during and after the period with a gluten-free diet. Visual Analogue Scale and Real Life Rating Scale were used to register changes in behaviour. No connection was observed between gluten and behaviour typical for these patients. On the contrary, the gluten-free diet seemed to be another negative factor leading to further social isolation in this group of highly socially handicapped patients and families. PMID:2008691

Sponheim, E

1991-02-28

257

Infantile acne as the initial sign of an adrenocortical tumor.  

PubMed

A 23-month-old boy with persistent acne since 6 months of age had signs of virilization and accelerated growth. Hormone evaluation indicated increased levels of dehydroepiandrosterone (DHEA) and testosterone. Ultrasound and abdominal computed tomographic scan revealed a large adrenal mass consistent with an adrenocortical tumor. The patient underwent surgical excision of the well-encapsulated tumor with normalization of his hormones and no subsequent recurrence. Although rare, childhood adrenocortical tumors have a poor prognosis, with the majority of tumors having regional and metastatic disease. Because early diagnosis and complete surgical excision improve prognosis, children with refractory infantile acne should be evaluated for signs of virilization and accelerated growth. Laboratory evaluation should include luteinizing hormone, follicle-stimulating hormone, total and free testosterone cortisol, DHEA, and its sulfate (DHEA-S). Elevated levels of DHEA and DHEA-S should prompt an aggressive diagnostic evaluation for an adrenocortical tumor. PMID:17097383

Mann, Margaret Wing-Yan; Ellis, Susan Schroeder; Mallory, Susan Bayliss

2007-02-01

258

[Neuroanatomical, genetic and neurochemical aspects of infantile autism].  

PubMed

Infantile autism is a neurodevelopmental disorder characterized by impairments in communication, reciprocal social interaction and restricted repetitive behaviors or interests. Although the cause of these disorders is not yet known, studies strongly suggest a genetic basis with a complex mode of inheritance. The etiopathogenetic processes of autism are extremely complex, which is reflected in the varying course and its symptomatology. Trajectories of brain development and volumes of its structures are aberrant in autistic patients. It is suggested that disturbances in sertotoninergic, gabaergic, glutaminergic, cholinergic and dopaminergic neurotransmission can be responsible for symptoms of autism as well as can disturb the development of the young brain. The objective of this article is to present the results of reasearch on neuroanatomical, neurochemical and genetic aspects of autism. PMID:25007541

Gerhant, Aneta; Olajossy, Marcin; Olajossy-Hilkesberger, Luiza

2013-01-01

259

RAGE signaling contributes to neuroinflammation in infantile neuronal ceroid lipofuscinosis.  

PubMed

Palmitoyl-protein thioesterase-1 (PPT1) deficiency causes infantile neuronal ceroid lipofuscinosis (INCL), a devastating childhood neurodegenerative storage disorder. We previously reported that neuronal apoptosis in INCL is mediated by endoplasmic reticulum-stress. ER-stress disrupts Ca(2+)-homeostasis and stimulates the expression of Ca(2+)-binding proteins. We report here that in the PPT1-deficient human and mouse brain the levels of S100B, a Ca(2+)-binding protein, and its receptor, RAGE (receptor for advanced glycation end-products) are elevated. We further demonstrate that activation of RAGE signaling in astroglial cells mediates pro-inflammatory cytokine production, which is inhibited by SiRNA-mediated suppression of RAGE expression. We propose that RAGE signaling contributes to neuroinflammation in INCL. PMID:18948101

Saha, Arjun; Kim, Sung-Jo; Zhang, Zhongjian; Lee, Yi-Ching; Sarkar, Chinmoy; Tsai, Pei-Chih; Mukherjee, Anil B

2008-11-12

260

Model of cryptogenic infantile spasms after prenatal corticosteroid priming  

PubMed Central

Infantile spasms (IS) is a devastating epilepsy syndrome of childhood. They occur in 3-12 month old infants and are characterized by spasms, interictal EEG hypsarrhythmia and profound mental retardation. Hormonal therapy (ACTH, corticosteroids) are frequently used, their efficacy is however tainted by severe side effects. For research of novel therapies, a validated animal model of IS is required. We propose the model of spastic seizures triggered by NMDA in infant rats prenatally exposed to betamethasone. The spasms have remarkable similarity to human IS, including motor flexion spasms, ictal EEG electrodecrement, and responsiveness to ACTH. Interestingly, the spasms do not involve the hippocampus. Autoradiographic metabolic mapping as well as tagging the areas of neuronal excitation with c-fos indicate a strong involvement of hypothalamic structures such as the arcuate nucleus, which has significant bilateral connections with other hypothalamic nuclei as well as with the brainstem. PMID:20618421

Velisek, Libor; Chachua, Tamar; Yum, Mi-Sun; Poon, Ka-Lai; Veliskova, Jana

2010-01-01

261

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

PubMed

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

Figueroa, Gustavo C

2014-01-01

262

Sarcoidosis and the occurrence of malignant diseases.  

PubMed

Whereas the association between sarcoidosis and malignant diseases has been well described, it remains controversial whether this association is merely a coincidence or the consequence of a common pathophysiologic mechanism. We investigated the incidence of malignancies in a large cohort of patients with sarcoidosis from a German University Hospital. Patients with a malignant disease were identified in a retrospective analysis of a cohort of 425 patients with sarcoidosis at the Medical Center of the University of Heidelberg. The type of malignancies and the onset before, concomitant or after sarcoidosis were analyzed. Sixty-one patients with a malignant disease were identified in our cohort of 425 patients with sarcoidosis. Among them, there were 18 patients with malignant lymphoma, 13 with breast cancer and 5 with cervical cancer. Malignant lymphoma was diagnosed up to 30 years after sarcoidosis with a median of 6.9 years. Breast or cervical cancers were diagnosed up to 20 years before or after sarcoidosis, and the median was 0.0 years. A high prevalence of B-cell lymphoma, breast and cervical cancers was found in our sarcoidosis cohort. In most patients, B-cell lymphoma was diagnosed many years after chronic sarcoidosis. In contrast, the diagnosis of breast or cervical cancer was evenly distributed before, around and after the diagnosis of sarcoidosis. Our hypothesis is that the immune dysregulation which persists during or after chronic sarcoidosis might represent a contributing factor for the development of B-cell lymphoma. PMID:24658811

Blank, Norbert; Lorenz, Hanns-Martin; Ho, Anthony D; Witzens-Harig, Mathias

2014-10-01

263

Peritoneovenous shunts palliate malignant ascites.  

PubMed

Fifty-five peritoneovenous shunts (PVS) were implanted in 45 patients (29 LeVeen and 26 Denver shunts). Seventy-five percent of patients experienced relief of symptoms referable to their ascites. The mean survival time post-shunt placement was 33 weeks; however, considerable variation was noted in survival times for the various tumor types (pancreas 7 weeks, ovary 71 weeks). Significant alterations in coagulation parameters consistent with subclinical disseminated intervascular coagulation (DIC) were present in all patients with functioning shunts. These coagulation changes have proven reliable indicators of shunt patency. Shunt revision was necessary in 18 percent of patients. No significant difference in shunt patency was detected when Denver and LeVeen shunts were compared. This experience indicates that PVS offers effective palliation without undue morbidity for malignant ascites. The best results can be expected in those patients with ovarian and breast primary tumors. Because of the short time from onset of disabling ascites until death, PVS is not indicated in the majority of patients with pancreatic cancer. PMID:2480068

Edney, J A; Hill, A; Armstrong, D

1989-12-01

264

Malignant melanoma and bone resorption  

PubMed Central

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

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

2006-01-01

265

Improved radioimmunotherapy of hematologic malignancies  

SciTech Connect

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

Press, O.W.

1992-03-24

266

Malignant peripheral nerve sheath tumors.  

PubMed

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

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

2014-02-01

267

Malignant tumours in patients with HIV infection.  

PubMed Central

One of the most important though somewhat neglected aspects of research in HIV infection concerns the development, clinicopathological characteristics, and treatment of malignant tumours in infected patients. With the improved survival of patients with AIDS owing to the better prevention and treatment of infectious complications there may well be an increase in AIDS related malignancies. This paper reviews the epidemiology, pathology, and treatment of malignant tumours in patients with HIV. Images p1149-a p1149-b p1149-c FIG 1 FIG 2 FIG 3 p1151-a p1151-b p1151-c PMID:8173459

Tirelli, U.; Franceschi, S.; Carbone, A.

1994-01-01

268

Canine olfactory detection of malignant melanoma.  

PubMed

Our patient is a 75-year-old man who presented after his pet dog licked persistently at an asymptomatic lesion behind his right ear. Examination revealed a nodular lesion in the postauricular sulcus. Histology confirmed malignant melanoma, which was subsequently excised. Canine olfactory detection of human malignancy is a well-documented phenomenon. Advanced olfaction is hypothesised to explain canine detection of bladder, breast, colorectal, lung, ovarian, prostate and skin cancers. Further research in this area may facilitate the development of a highly accurate aid to diagnosis for many malignancies, including melanoma. PMID:24127369

Campbell, Leon Frederick; Farmery, Luke; George, Susannah Mary Creighton; Farrant, Paul B J

2013-01-01

269

Radiation Associated Malignancies of the Esophagus.  

National Technical Information Service (NTIS)

This report documents the experience of the authors with two patients who had received thoracic radiation for dissemination teratocarcinomas of the testis, survived their malignancies, and subsequently developed squamous cell carcinomas of the esophagus. ...

D. J. Sherrill, B. A. Grishkin, F. S. Galal, R. Zajtchuk, G. M. Graeber

1984-01-01

270

Liver Metastases of Unknown Primary: Malignant Melanoma  

PubMed Central

According to the National Cancer Institute's (NCI) data, the increase in the number of patients diagnosed with malignant melanoma was found to be at a higher rate than the current increase in all other types of cancer (Jemal et al., 2008). Early diagnosis, appropriate surgical treatment, and chemotherapy have positive impacts on the course of the disease but despite these developments on the treatment, current prognosis of metastatic malignant melanoma prognosis is still extremely poor. Life expectancy in patients with metastatic disease is between 2 and 8 months. The 5-year disease-free survival rate is identified in only 5% of the patients (Leong, 2003) (Kirkwood et al., 1996). In this study, we try to report a patient with metastatic malignant melanoma and give recent informations about the liver metastases of malignant melanoma. PMID:25374724

Bostanci, Ozgur; Battal, Muharrem

2014-01-01

271

Isolated Malignant Melanoma Metastasis to the Pancreas  

PubMed Central

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.

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

2013-01-01

272

Malignant phosphaturic mesenchymal tumor of the larynx.  

PubMed

Phosphaturic mesenchymal tumors are rare neoplasms predominantly originating in the trunk and extremities. Malignant variants are exceedingly rare, and can present significant diagnostic challenges to the pathologist and otolaryngologist alike. This report describes the first case of malignant phosphaturic mesenchymal tumor involving the larynx, and emphasizes the importance of vigilance in both histopathologic and clinical actions so that appropriate treatment can be provided in a timely manner. The clinical presentation, radiologic and histologic features, and management are discussed. PMID:21721013

Sidell, Douglas; Lai, Chi; Bhuta, Sunita; Barnes, Leon; Chhetri, Dinesh K

2011-09-01

273

Pediatric Malignancies: Synopsis of Current Imaging Techniques  

Microsoft Academic Search

The imaging evaluation of malignancies is directed towards the assessment of size, location and characterization of the neoplasm.\\u000a Imaging children necessitates additional attention to the dose of radiation, given the radiosensitivity and the expected longevity\\u000a of children. This chapter will present some of the latest technologies used to image pediatric malignancies, as well as methods\\u000a to evaluate the most common

Sabah Servaes; Monica Epelman; Avrum Pollock; Karuna Shekdar

274

Malignant syphilis in an immunocompetent female patient*  

PubMed Central

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

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

2014-01-01

275

Dual Primary Malignancy: A Rare Organ Combination  

PubMed Central

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.

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

2014-01-01

276

Giant Chondroid Syringoma Radiologically Mimicking Malignancy  

PubMed Central

Chondroid syringoma, or mixed tumor of skin, is a relatively rare, usually benign sweat gland tumor, most often seen in the head-and-neck region. Rare malignant examples have been reported, commonly involving the extremities. We report here a case radiologically mimicking a malignant neoplasm, but histologically-proven benign subcutaneous chondroid syringoma, arising in the anterior aspect of the upper thigh of a 59-year-old male. PMID:23723512

Uyar, Belkiz; Solak, Aynur; Sahin, Neslin; Bugdayci, Husnu

2013-01-01

277

Steroid requirements during radiotherapy for malignant gliomas  

Microsoft Academic Search

Radiotherapy (RT) is the standard treatment for high-grade gliomas. However, toxicity may develop during RT, such as brain\\u000a edema or worsening of neurological symptoms. Surprisingly, no dedicated study had focused on steroid requirements during RT\\u000a in adult patients with malignant gliomas. We evaluated prospectively all patients with malignant gliomas treated by RT in\\u000a a single center from July 2006 to

Athina Marantidou; Christine Levy; Alyette Duquesne; Renata Ursu; Olivier Bailon; Irene Coman; Catherine Belin; Antoine F. Carpentier

2010-01-01

278

Malignant solitary fibrous tumor in the pleura  

Microsoft Academic Search

We present a case of malignant solitary fibrous tumor of the pleura in an asymptomatic 75-year-old man. A needle biopsy specimen\\u000a revealed a solitary fibrous tumor of the pleura with suspected. The tumor was resected and the final diagnosis was a malignant\\u000a solitary fibrous tumor. At one-and-a-half years later, the patient has no clinical or radiological evidence of recurrence.\\u000a The

Ryoji Yamamoto; Hirohito Tada; Akihiro Kishi; Takashi Tojo

2000-01-01

279

Increased incidence of malignancy in dermatitis herpetiformis  

Microsoft Academic Search

A retrospective study of 109 patients with dermatitis herpetiformis showed that malignant tumours had developed in seven patients, the expected incidence being 2.93, giving a relative risk of 2.38. In three of the seven patients the malignancy was a lymphoma, giving a relative risk of 100 for this tumour (expected incidence 0.03). In six of the seven patients who developed

J N Leonard; W F Tucker; J S Fry; C A Coulter; A W Boylston; R M McMinn; G P Haffenden; A F Swain; L Fry

1983-01-01

280

[Primary malignant melanoma of the female urethra].  

PubMed

Primary malignant melanoma of the genitourinary tract is rare and accounts for less than 1 per cent of all melanomas. The most frequent locations in male are penis and urethra. The most frequent site in female is urethra and it most commonly affects meatus and the distal urethra. The prognosis is poor. We report a patient with primary malignant melanoma of the female urethra. Clinicopathologic features and treatment of this tumor are discussed. PMID:10437350

Markovi?-Puac, L; Relji?, A; Kruslin, B

1999-03-01

281

Urethral malignant melanoma closely mimicking urothelial carcinoma.  

PubMed Central

Primary malignant melanoma of the urethra is very rare. In the male, the distal urethra is the most common site. The histopathology does not usually differ from that of melanoma at other body sites. This report describes a case of urethral malignant melanoma which closely resembled urethral carcinoma. It showed both papillary and solid growth, and the diagnosis only became apparent from special stains. Pathologists should be aware of this rare occurrence. Images PMID:9155678

Radhi, J M

1997-01-01

282

[Amelanotic malignant melanoma: about three cases].  

PubMed

The amelanotic melanoma is a rare type of malignant melanoma. The purpose of this report is to point out this aspect of melanoma, whose diagnostic delay is frequent. We describe one localisation on the penis, rare in this kind of melanoma and two cases of the extremities, more frequent localization of the amelanotic melanoma. The therapeutic issues and recommendation are similar to the classical pigmented malignant melanoma. PMID:17030390

Mercadier, B; Hu, W; Valentin, S; Sassolas, B

2007-02-01

283

Primary malignancies of the heart and pericardium.  

PubMed

Primary malignancies of the heart and pericardium are rare. All the available data come from autopsy studies, case reports, and, in recent years, from large, specialized, single-center studies. Nevertheless, if primary malignancy is present, it may have a devastating implication for patients. Malignancies may affect heart function, also causing left-sided or right-sided heart failure. In addition, they can be responsible for embolic events or arrhythmias. Today, with the widespread use of noninvasive imaging modalities, heart tumors become evident, even as an incidental finding. A multimodality imaging approach is usually required to establish the final diagnosis. Despite the increased awareness and improved diagnostic techniques, clinical manifestations of primary malignancy of the heart and pericardium are so variable that their occurrence may still come as a surprise during surgery or autopsy. No randomized clinical trials have been carried out to determine the optimal therapy for these primary malignancies. Surgery is performed for small tumors. Chemotherapy and radiation therapy can be of help. Partial resection of large neoplasms is performed to relieve mechanical effects, such as cardiac compression or hemodynamic obstruction. Most patients present with marginally resectable or technically nonresectable disease at the time of diagnosis. It seems that orthotopic cardiac transplantation with subsequent immunosuppressive therapy may represent an option for very carefully selected patients. Early diagnosis and radical exeresis are of great importance for long-term survival of a primary cardiac malignancy. This can rarely be accomplished, and overall results are very disappointing. PMID:24895291

Burazor, Ivana; Aviel-Ronen, Sarit; Imazio, Massimo; Markel, Gal; Grossman, Yoni; Yosepovich, Ady; Adler, Yehuda

2014-09-01

284

Malignant Melanoma of the External Auditory Canal  

PubMed Central

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

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

2014-01-01

285

Infantile intestinal leiomyosarcoma: Surgical resection (without adjuvant therapy) for cure  

Microsoft Academic Search

A 7-week-old boy presented with a 6-week history of failure to thrive, acute intestinal obstruction, and an apparently irreducible intussusception (noted on contrast enema). He underwent abdominal exploration, during which a cecal mass was identified and resected. The mass proved to be a leiomyosarcoma. Histologically, it was an intermediategrade malignancy with a predicted 5-year survival rate of 16% to 23%

Brenda B Simpson; Ellen M Reynolds; Samuel H Kim; William S Ferguson; Fiona Graeme-Cook; Daniel P Doody

1996-01-01

286

A colonization of Basal cell carcinoma by malignant melanoma in situ resembling a malignant basomelanocytic tumor.  

PubMed

: We report a case of colonization of basal cell carcinoma (BCC) by malignant melanoma in situ (MIS) simulating a malignant basomelanocytic tumor. A biopsy of a pigmented lesion present on an 83-year-old man's scalp displayed intimate admixing of basaloid and melanocytic cells. This seemingly inseparable combination of BCC and neoplastic melanocytes has been referred to as a malignant basomelanocytic tumor. However, our case also displays an adjacent component of MIS, thus favoring colonization of BCC by MIS as the etiology. To our knowledge, this is the third case report of colonization of BCC by MIS resembling a malignant basomelanocytic tumor. PMID:24752214

Goeser, Megan; DiMaio, Dominick J

2014-11-01

287

Definitions of Single and Subsequent Primaries for Hematologic Malignancies  

Cancer.gov

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

288

A large primary malignant melanoma of the female urethra.  

PubMed

We present a case of large, primary malignant melanoma of the female urethra with poor prognosis in this case report. Malignant melanoma is one of the rare tumors of the female urethra and accounts for 0.2% of all malignant melanoma cases. Large (5.6 cm in diameter), primary malignant melanoma of the female urethra is exceedingly rare. PMID:10738194

Girgin, C; Tarhan, H; Sezer, A; Ermete, M; Gürel, G

1999-01-01

289

PLA2G6 mutation underlies infantile neuroaxonal dystrophy.  

PubMed

Infantile neuroaxonal dystrophy (INAD) is an autosomal recessive progressive neurodegenerative disease that presents within the first 2 years of life and culminates in death by age 10 years. Affected individuals from two unrelated Bedouin Israeli kindreds were studied. Brain imaging demonstrated diffuse cerebellar atrophy and abnormal iron deposition in the medial and lateral globus pallidum. Progressive white-matter disease and reduction of the N-acetyl aspartate : chromium ratio were evident on magnetic resonance spectroscopy, suggesting loss of myelination. The clinical and radiological diagnosis of INAD was verified by sural nerve biopsy. The disease gene was mapped to a 1.17-Mb locus on chromosome 22q13.1 (LOD score 4.7 at recombination fraction 0 for SNP rs139897), and an underlying mutation common to both affected families was identified in PLA2G6, the gene encoding phospholipase A2 group VI (cytosolic, calcium-independent). These findings highlight a role of phospholipase in neurodegenerative disorders. PMID:17033970

Khateeb, Shareef; Flusser, Hagit; Ofir, Rivka; Shelef, Ilan; Narkis, Ginat; Vardi, Gideon; Shorer, Zamir; Levy, Rachel; Galil, Aharon; Elbedour, Khalil; Birk, Ohad S

2006-11-01

290

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.  

PubMed

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

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

2014-06-01

291

Infantile type of sialic acid storage disease with sialuria.  

PubMed

We describe a male infant of Austrian ancestry, the main clinical features including attacks of dyspnea due to laryngomalacia, severe mental and motor retardation, pronounced splenohepatomegaly and vacuolisation of peripheral lymphocytes. The clinical condition deteriorated progressively and the child died at the age of 21 months. Phase and electron microscopy of cultured skin fibroblasts showed multiple vacuoles and inclusions suggestive of a lysosomal storage disorder. Increased excretion of free sialic acid was demonstrated by resorcinol staining after routine thin-layer screening for urinary oligosaccharides. Quantitative analyses of urine, leucocytes and cultured fibroblasts revealed 10 to 30-fold increased concentration of free sialic acid. In addition, 3-fold elevated amounts of sialyloligosaccharides were found in the urine. The activities of a variety of lysosomal enzymes, including sialidase, were normal. Our case is compared with infantile sialic acid storage disease recently observed by other authors. The close convergence of clinical, morphological and biochemical signs support the concept of a distinct lysosomal disease entity. The basic defect is so far unknown. PMID:3742847

Paschke, E; Trinkl, G; Erwa, W; Pavelka, M; Mutz, I; Roscher, A

1986-05-01

292

Late rebound of infantile hemangioma after cessation of oral propranolol.  

PubMed

Propranolol has become the first line of treatment for infantile hemangiomas (IHs), with a high response rate, but rebound growth after cessation of propranolol has been reported, primarily in the first year of life. We sought to determine the frequency and associated factors leading to late regrowth after successful treatment at an age when the proliferative phase has usually ceased. We retrospectively reviewed the clinical charts, serial photographs, and radiologic images of children with rebound IH occurring after the age of 15 months after a successful course of oral propranolol averaging 2.6 mg/kg/day (range 2-3 mg/kg/day). Thirteen (10 female, 3 male) of 212 patients (6%) treated with oral propranolol since 2008 were evaluated. The mean age at the start of treatment was 5.3 months (range 1.8-13 months), and an average of 10.3 months (range 4.5-16 months) of treatment was given. It took an average of 5.3 months (range 1-13.8 months) for a significant rebound to appear. Late rebound after successful propranolol indicates a prolonged proliferation phase of IH even after 15 months of age. This is compared with previous reports of rebound, which occurred primarily in infants younger than 1 year old. Late proliferation can occur in localized, small, mixed, and deep IH, even after several months of a positive response to propranolol. A second course of propranolol readily controlled the recurrence. PMID:24016283

Shehata, Nancy; Powell, Julie; Dubois, Josée; Hatami, Afshin; Rousseau, Elizabeth; Ondrejchak, Sandra; McCuaig, Catherine

2013-01-01

293

Infantile hypertrophic pyloric stenosis in Belfast, 1957-1969.  

PubMed Central

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 this community has fallen during the period under review. Clinically, the patients started vomiting at a mean age of 22 days and it is recommended that the condition should not be called 'congenital'. The size of the tumour is mainly determined by the size of the patient, rather than by his age or duration of symptoms. Attention is drawn to the occurrence of haematemesis in 17-5% and melaena in 2-9% of infants. Jaundice occurred in 1-8% of patients in this series, and is attributed to the adverse effect of starvation on hepatic glucuronyl transferase activity. Other conditions noted in these patients included inguinal hernia, partial thoracic stomach, and phenylketonuria. Subsequent growth and development were in the anticipated range. PMID:1170811

Dodge, J A

1975-01-01

294

Infantile hypertrophic pyloric stenosis in Belfast, 1957-1969.  

PubMed

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 this community has fallen during the period under review. Clinically, the patients started vomiting at a mean age of 22 days and it is recommended that the condition should not be called 'congenital'. The size of the tumour is mainly determined by the size of the patient, rather than by his age or duration of symptoms. Attention is drawn to the occurrence of haematemesis in 17-5% and melaena in 2-9% of infants. Jaundice occurred in 1-8% of patients in this series, and is attributed to the adverse effect of starvation on hepatic glucuronyl transferase activity. Other conditions noted in these patients included inguinal hernia, partial thoracic stomach, and phenylketonuria. Subsequent growth and development were in the anticipated range. PMID:1170811

Dodge, J A

1975-03-01

295

A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis  

PubMed Central

Infantile myofibromatosis (IM) is the most common benign fibrous tumor of soft tissues affecting young children. By using whole-exome sequencing, RNA sequencing, and targeted sequencing, we investigated germline and tumor DNA in individuals from four distinct families with the familial form of IM and in five simplex IM cases with no previous family history of this disease. We identified a germline mutation c.1681C>T (p.Arg561Cys) in platelet-derived growth factor receptor ? (PDGFRB) in all 11 affected individuals with familial IM, although none of the five individuals with nonfamilial IM had mutations in this gene. We further identified a second heterozygous mutation in PDGFRB in two myofibromas from one of the affected familial cases, indicative of a potential second hit in this gene in the tumor. PDGFR-? promotes growth of mesenchymal cells, including blood vessels and smooth muscles, which are affected in IM. Our findings indicate p.Arg561Cys substitution in PDGFR-? as a cause of the dominant form of this disease. They provide a rationale for further investigations of this specific mutation and gene to assess the benefits of targeted therapies against PDGFR-? in aggressive life-threatening familial forms of the disease. PMID:23731537

Cheung, Yee Him; Gayden, Tenzin; Campeau, Philippe M.; LeDuc, Charles A.; Russo, Donna; Nguyen, Van-Hung; Guo, Jiancheng; Qi, Ming; Guan, Yanfang; Albrecht, Steffen; Moroz, Brenda; Eldin, Karen W.; Lu, James T.; Schwartzentruber, Jeremy; Malkin, David; Berghuis, Albert M.; Emil, Sherif; Gibbs, Richard A.; Burk, David L.; Vanstone, Megan; Lee, Brendan H.; Orchard, David; Boycott, Kym M.; Chung, Wendy K.; Jabado, Nada

2013-01-01

296

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

NASA Astrophysics Data System (ADS)

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

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

2012-06-01

297

Safety and Efficacy of Vigabatrin for the Treatment of Infantile Spasms  

PubMed Central

In 2009, vigabatrin became the first FDA approved medication for the treatment of infantile spasms in the United States. There are few well-designed prospective studies comparing the drug to placebo or other modalities used in the treatment of infantile spasms. The available data have demonstrated that vigabatrin is efficacious in the treatment of infantile spasms regardless of underlying etiology, but that it is particularly beneficial in patients with a diagnosis of tuberous sclerosis. Adrenocorticotropic hormone (ACTH), the only other medication with robust efficacy data, has been used as first line therapy for infantile spasms associated with other etiologies, and in general controls spasms sooner than vigabatrin, though relapse is common with both therapies. Vigabatrin is generally well tolerated. However, use has been associated with permanent loss of peripheral vision in some patients. In children with tuberous sclerosis, vigabatrin should be considered as initial therapy for infantile spasms. It is a viable alternative for patients with suboptimal response, contraindications or intolerance to ACTH. PMID:23861649

Faulkner, Michele A.; Tolman, Justin A.

2011-01-01

298

Safety and efficacy of vigabatrin for the treatment of infantile spasms.  

PubMed

In 2009, vigabatrin became the first FDA approved medication for the treatment of infantile spasms in the United States. There are few well-designed prospective studies comparing the drug to placebo or other modalities used in the treatment of infantile spasms. The available data have demonstrated that vigabatrin is efficacious in the treatment of infantile spasms regardless of underlying etiology, but that it is particularly beneficial in patients with a diagnosis of tuberous sclerosis. Adrenocorticotropic hormone (ACTH), the only other medication with robust efficacy data, has been used as first line therapy for infantile spasms associated with other etiologies, and in general controls spasms sooner than vigabatrin, though relapse is common with both therapies. Vigabatrin is generally well tolerated. However, use has been associated with permanent loss of peripheral vision in some patients. In children with tuberous sclerosis, vigabatrin should be considered as initial therapy for infantile spasms. It is a viable alternative for patients with suboptimal response, contraindications or intolerance to ACTH. PMID:23861649

Faulkner, Michele A; Tolman, Justin A

2011-01-01

299

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

PubMed Central

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

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

1997-01-01

300

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

ClinicalTrials.gov

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

2014-08-21

301

Nonmyeloablative stem cell transplantation and cell therapy for malignant and non-malignant diseases  

Microsoft Academic Search

The conditioning prior to allogeneic stem cell transplantation was originally designed as a myeloablative conditioning, designed to eliminate malignant or genetically abnormal cells and then use the transplant procedure for rescue of the patients or to replace missing bone marrow products. However, allografts can induce effective graft vs. malignancy effects and can also eliminate undesirable hematopoietic stem cells in patients

I. B. Resnick; M. Y. Shapira; S. Slavin

2005-01-01

302

Infantile neuroaxonal dystrophy--immunohistochemical and ultrastructural studies on the central and peripheral nervous systems in infantile neuroaxonal dystrophy.  

PubMed

We performed pathological studies on the central and peripheral nervous systems of cases with infantile neuroaxonal dystrophy (INAD). Numerous spheroid bodies in the central and peripheral nervous systems, were seen and divided into large spheroid bodies (LSB) and small spheroid bodies (SSB) photo-microscopically. LSB had a relation to some specific neurons with weak expression of neuron specific enolase, neurofilament and chromogranin using PAP method. SSB showed a relation to the axon without immunohistochemical expression of neuron specific enolase, neurofilament, glial fibrillary acidic protein, myelin basic protein, chromogranin, S 100 protein or antitrypsin. LSB were prominent in the posterior column, gracile nucleus, cuneate nucleus, and the tegmentum of the midbrain and the pons associated with neuronal loss and gliosis. SSB were observed in the thalamus, basal ganglia and the cerebral cortex. The cerebellum was sclerotic with few microtubule-like structures disposed in a dense network in association with degenerated mitochondria. Similar changes were observed in the sural nerves, autonomic nerve endings in the skin, and the nerve plexus of the digestive tract. Although INAD is a generalized neurodegenerative disease, it is suggested that the primary disorder might occur in the neurons and axons of the sensory tracts. PMID:8289437

Itoh, K; Negishi, H; Obayashi, C; Hayashi, Y; Hanioka, K; Imai, Y; Itoh, H

1993-08-01

303

Malignant mesenterial mesothelioma in stroke patients.  

PubMed

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

Budiyasa, Dewa Gde Agung; Wibawa, I Dewa Nyoman

2008-10-01

304

The use of magnetic resonance imaging in diagnosing infantile neuroaxonal dystrophy.  

PubMed

We used MRI to investigate the brains of four children ranging from 3 to 10 years of age with infantile neuroaxonal dystrophy. T2-weighted imaging revealed characteristic findings of marked cerebellar atrophy and diffuse hyperintensity of the cerebellar cortex. At autopsy, one child had extensive astrogliosis and neuronal loss with shrinkage of the cerebellar cortex, in addition to typical widespread changes of neuroaxonal dystrophy. The characteristic hyperintensity of the cerebellar cortex on T2-weighted imaging probably is secondary to the extensive gliosis and shrinkage of the cerebellar cortex. These cerebellar findings on MRI may permit early diagnosis of infantile neuroaxonal dystrophy. PMID:8423872

Tanabe, Y; Iai, M; Ishii, M; Tamai, K; Maemoto, T; Ooe, K; Takashima, S

1993-01-01

305

[Infantile neuroaxonal dystrophy: diagnosis during life by biopsy of the conjunctiva].  

PubMed

Three cases of infantile neuroaxonal dystrophy diagnosed by conjunctival biopsy are reported. Some axons of the conjunctival nerves showed aggregates of tubular and membranous structures identical to the spheroids of the CNS. The visualization of these structures is the only diagnostic tool in this disease of unknown metabolic basis. Conjunctival biopsy which is ease to perform is the preferential technique for the diagnosis of this disease. Clinically, the intense hypotonia with pyramidal tract signs, the absence of seizures, the cerebellar atrophy observed at the computerized tomography suggest strongly the diagnosis of infantile neuroaxonal dystrophy. PMID:4015437

Rosemberg, S; Arita, F; Campos, C

1985-03-01

306

The psoas muscle as cause of low back pain in infantile cerebral palsy  

PubMed Central

Psoas muscle spasticity is hypothesised as a rare cause of low back pain in patients with infantile cerebral palsy. The authors describe a new manoeuvre for the study of psoas tenderness and ultrasound (US)-guided transabdominal botulinum toxin injection technique. A possible causal relationship between psoas tension and low back pain was found incidentally in two examined cases. In subsequent patients, botulinum toxin was injected and, in cases of disappearance of symptoms, the psoas tendon was sectioned at the pelvic brim with definitive disappearance of pain. The relationship between psoas tension and low back pain in patients with infantile cerebral palsy seems likely, given the result in the four patients. PMID:19384481

Camoriano, R.; Valle, M.; Boero, S.

2008-01-01

307

Infantile spasms: an early epileptic manifestation in some patients with the congenital bilateral perisylvian syndrome.  

PubMed

We report four patients with infantile spasms and the congenital bilateral perisylvian syndrome. Onset of spasms occurred during the first 6 months of life. Response to corticotropin treatment was prompt and resulted in resolution of seizures in all patients. Epilepsy developed in the four children after an interval of 2 to 12 years. Developmental outcome was variable; three were severely restricted and one was married and lived independently. Imaging studies revealed bilateral perisylvian lesions characteristic of polymicrogyria. Infantile spasms may be the presenting seizure type in some patients with the congenital bilateral perisylvian syndrome. PMID:7822736

Kuzniecky, R; Andermann, F; Guerrini, R

1994-10-01

308

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

PubMed

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

Modarressi, Taher

2014-05-01

309

Targeting oncogenic Ras signaling in hematologic malignancies  

PubMed Central

Ras proteins are critical nodes in cellular signaling that integrate inputs from activated cell surface receptors and other stimuli to modulate cell fate through a complex network of effector pathways. Oncogenic RAS mutations are found in ? 25% of human cancers and are highly prevalent in hematopoietic malignancies. Because of their structural and biochemical properties, oncogenic Ras proteins are exceedingly difficult targets for rational drug discovery, and no mechanism-based therapies exist for cancers with RAS mutations. This article reviews the properties of normal and oncogenic Ras proteins, the prevalence and likely pathogenic role of NRAS, KRAS, and NF1 mutations in hematopoietic malignancies, relevant animal models of these cancers, and implications for drug discovery. Because hematologic malignancies are experimentally tractable, they are especially valuable platforms for addressing the fundamental question of how to reverse the adverse biochemical output of oncogenic Ras in cancer. PMID:22898602

Ward, Ashley F.; Braun, Benjamin S.

2012-01-01

310

Identification of Serum Regression Signs in Infantile Hemangioma  

PubMed Central

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

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

2014-01-01

311

Relationship of immunodeficiency to lymphoid malignancy.  

PubMed

Individuals with either primary or secondary immunodeficiencies are at high risk to develop not only infections but also malignancy (especially of the lymphoid system). The major focus of this paper is on malignancies that develop in immunodeficiency syndromes, particularly malignancies in naturally occurring immunodeficiencies and following bone marrow transplantation (BMT). As of August, 1986, 514 cases of naturally occurring immunodeficiencies have been registered at the Immunodeficiency Cancer Registry. Overall non-Hodgkin's lymphomas predominate in these patients, accounting for 48.6% of all cases. Non-Hodgkin's lymphoma is the predominant malignancy in ataxia-telangiectasia, common variable immunodeficiency, Wiskott-Aldrich syndrome (WAS) and severe combined immunodeficiency (SCID). The histopathology of the lymphomas differs somewhat in each of the disorders. In WAS, large cell "histiocytic" lymphoma predominates, with most cases having the features of B lymphocytes, including pleomorphic immunocytoma and immunoblastic lymphoma. Non-Hodgkin's lymphoma in SCID also generally has B cell features and in some cases multiple copies of Epstein-Barr virus (EBV) genomic DNA have been found in tumor tissue. In contrast to ataxia-telangiectasia, in which non-Hodgkin's lymphoma is also the predominant neoplasm, the morphology and cell marker characteristics are more similar to those seen in nonimmunodeficient children. The lymphomas in ataxia-telangiectasia are very heterogeneous with representation from all the major histologic subtypes. We have found no relationship between the degree of immunodeficiency and the development of malignancy. Immunodeficiency following BMT, as in naturally occurring immunodeficiencies, appears to predispose patients to the development of lymphoid malignancy, especially for recipients of partially mismatched bone marrow. In Minnesota 8 patients have developed B cell lympho-proliferative disorders (BLPD) following BMT.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:2840629

Kersey, J H; Shapiro, R S; Filipovich, A H

1988-05-01

312

Malignant lymphoma in african lions (panthera leo).  

PubMed

Malignant lymphoma has become an increasingly recognized problem in African lions (Panthera leo). Eleven African lions (9 male and 2 female) with clinical signs and gross and microscopic lesions of malignant lymphoma were evaluated in this study. All animals were older adults, ranging in age from 14 to 19 years. Immunohistochemically, 10 of the 11 lions had T-cell lymphomas (CD3(+), CD79a(-)), and 1 lion was diagnosed with a B-cell lymphoma (CD3(-), CD79a(+)). The spleen appeared to be the primary site of neoplastic growth in all T-cell lymphomas, with involvement of the liver (6/11) and regional lymph nodes (5/11) also commonly observed. The B-cell lymphoma affected the peripheral lymph nodes, liver, and spleen. According to the current veterinary and human World Health Organization classification of hematopoietic neoplasms, T-cell lymphoma subtypes included peripheral T-cell lymphoma (4/11), precursor (acute) T-cell lymphoblastic lymphoma/leukemia (2/11), chronic T-cell lymphocytic lymphoma/leukemia (3/11), and T-zone lymphoma (1/11). The single B-cell lymphoma subtype was consistent with diffuse large B-cell lymphoma. Feline leukemia virus (FeLV) and feline immunodeficiency virus (FIV) testing by immunohistochemistry on sections of malignant lymphoma was negative for all 11 lions. One lion was seropositive for FeLV. In contrast to domestic and exotic cats, in which B-cell lymphomas are more common than T-cell lymphomas, African lions in this study had malignant lymphomas that were primarily of T-cell origin. Neither FeLV nor FIV, important causes of malignant lymphoma in domestic cats, seems to be significant in the pathogenesis of malignant lymphoma in African lions. PMID:20610770

Harrison, T M; McKnight, C A; Sikarskie, J G; Kitchell, B E; Garner, M M; Raymond, J T; Fitzgerald, S D; Valli, V E; Agnew, D; Kiupel, M

2010-09-01

313

Radiation-induced intracranial malignant gliomas  

SciTech Connect

The authors present seven cases of malignant gliomas that occurred after radiation therapy administered for diseases different from the subsequent glial tumor. Included among these seven are three patients who were treated with interstitial brachytherapy. Previously reported cases of radiation-induced glioma are reviewed and analyzed for common characteristics. Children receiving central nervous system irradiation appear particularly susceptible to induction of malignant gliomas by radiation. Interstitial brachytherapy may be used successfully instead of external beam radiotherapy in previously irradiated, tumor-free brain, and thus may reduce the risk of radiation necrosis. 31 references.

Shapiro, S.; Mealey, J. Jr.; Sartorius, C.

1989-07-01

314

Renal malignancies with normal excretory urograms  

SciTech Connect

Four patients with malignant renal masses showed no abnormality of excretory urograms with tomography. Of the four lesions, two were primary renal cell carcinomas, one was a metastatic focus from a contralateral renal cell carcinoma, and one was a metastatic lesion from rectal adenocarcinoma. A normal excretory urogram should not be considered sufficient to exclude a clinically suspected malignant renal mass. In such an instance, diagnostic evaluation should be pursued using a method capable of topographic anatomic display, such as computed tomography or sonography.

Kass, D.A. (Univ. of California, San Francisco); Hricak, H.; Davidson, A.J.

1983-10-01

315

Primary tubercular mastitis masquerading as malignancy  

PubMed Central

The significance of primary tubercular mastitis is due to rare occurrence and often overlooked and misdiagnosed as pyogenic breast abscess or malignancy. Despite the high incidence of tuberculosis in India, reports of breast tuberculosis among the total number of mammary conditions varies between 0.64% and 3.59%. We report a case of a 35-year-old lady with breast lump of 3 months duration, which simulated malignancy on clinical examination but fine needle aspiration cytology revealed granulomatous mastitis secondary to tuberculosis. High level of suspicion and simple fine needle aspiration procedure with micro-biological tests will clinch the final diagnosis. PMID:24678224

Prathima, S.; Kalyani, R.; Parimala, S.

2014-01-01

316

Epidermodysplasia verruciformis: an unusual malignant transformation.  

PubMed

Epidermodysplasia verruciformis (EV) is a rare, life-long heritable disease caused due to a unique susceptibility to human papilloma virus. The disseminated verrucous lesions and pityriasis versicolor-like lesions persist from early childhood and can transform into a cutaneous malignancy in a fourth of patients. Malignant transformation into syringoid eccrine carcinoma (SEC) has been reported only once so far. SEC is an extremely invasive, rare, locally destructive, slowly growing adnexal tumor. We hereby report the association of EV with SEC in a 29-year-old male. PMID:23254737

Agrawal, Prachi G; Mahajan, Sunanda A; Khopkar, Uday S; Kharkar, Vidya D

2013-01-01

317

Bilateral Metallic Stenting in Malignant Hilar Obstruction  

PubMed Central

Endoscopic palliative biliary drainage is considered as a gold standard treatment in advanced or inoperable hilar cholangiocarcinoma. Also, metal stents are preferred over plastic stents in patients with >3 months life expectancy. However, the endoscopic intervention of advanced hilar obstruction is often more challenging and complex than that of distal malignant biliary obstructions. In this literature review, we describe the issues commonly encountered during endoscopic unilateral (single) versus bilateral (multiple) biliary stenting for malignant hilar obstruction. Also, we provide technical guidance to improve the technical success rates and patient outcomes, focusing on bilateral metallic stenting techniques such as stent-in-stent or side-by-side deployment.

Moon, Jong Ho; Park, Sang-Heum

2014-01-01

318

Malignant neuroepithelioma (peripheral neuroblastoma). A case report.  

PubMed

Malignant neuroepithelioma is a rare neoplasm arising within the peripheral nervous system. It usually occurs in the lower extremities and may involve patients in any age group. In children younger than the age of five years, the tumor must be differentiated from a metastatic neuroblastoma; in adolescents and adults the tumor must be distinguished from other malignant round-cell tumors. The poor prognosis and the need for aggressive, combined surgical and chemotherapeutic modalities in treating this tumor necessitate a prompt and accurate diagnosis. PMID:2721067

Buckley, S L; Burkus, J K; Blasier, R B

1989-06-01

319

Intranasal malignant melanoma in a dog.  

PubMed

A 10-year-old, female Newfoundland-cross dog was presented for evaluation of chronic intermittent unilateral epistaxis, nasal stertor, and sneezing. Nasal magnetic resonance imaging revealed a 3 x 5-cm mass in the left nasal cavity. Histopathological evaluation of nasal biopsies determined that the mass was a malignant melanoma. The mass was surgically resected and treated with bilateral opposed photon-beam radiation. This is the first report to describe the presentation, diagnosis, and treatment of an intranasal malignant melanoma in a dog. PMID:17088396

Hicks, Daniel G; Fidel, Janean L

2006-01-01

320

Primary malignant melanoma of the urethra.  

PubMed

Primary malignant melanoma of the urethra is an aggressive neoplasm associated with a poor prognosis. The outcome is dependent on early diagnosis and surgical intervention. However, the diagnosis is often delayed as a result of difficulties related to differentiating this lesion from other disorders. Such difficulties result from the variety of clinical and pathologic presentations that are common to melanoma. We report a case of primary malignant melanoma of the urethra with subsequent retrograde seeding of the bladder initially diagnosed and managed as invasive urothelial carcinoma. PMID:15708067

Katz, Erin E; Suzue, Kimiko; Wille, Mark A; Krausz, Thomas; Rapp, David E; Sokoloff, Mitchell H

2005-02-01

321

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

PubMed Central

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

2014-01-01

322

Multiple metastatic malignant melanoma presenting intraluminal gallbladder bleeding.  

PubMed

Abstract We report a case of malignant melanoma of unknown primary origin presenting metastasis in various organs as well as intraluminal gallbladder bleeding due to gallbladder metastasis. A 58-year-old woman was diagnosed with stage IV metastatic malignant melanoma. Because she exhibited acute cholecystitis and hemobilia due to malignant melanoma of the gallbladder, laparoscopic cholecystectomy was performed to relieve the symptoms. The resected gallbladder specimen showed a pedunculated black mass indicating malignant melanoma. Pathologic examination and immunohistochemical analysis revealed malignant melanoma of the gallbladder. Only a few cases of gallbladder malignant melanoma presenting hemobilia have been reported; here we present our case, including the experience of multidisciplinary treatment. PMID:25216428

Onozawa, Hisashi; Saito, Motonobu; Yoshida, Sayaka; Sakuma, Takeshi; Matsuzaki, Masami; Katagata, Naoto; Watanabe, Fumiaki; Yamaguchi, Yoshiko; Takenoshita, Seiichi; Nomizu, Tadashi

2014-01-01

323

Identification of new alternative splice events in the TCIRG1 gene in different human tissues  

SciTech Connect

Two transcript variants (TV) of the T cell immune regulator gene 1 (TCIRG1) have already been characterized. TV1 encodes a subunit of the osteoclast vacuolar proton pump and TV2 encodes a T cell inhibitory receptor. Based on the search in dbEST, we validated by RT-PCR six new alternative splice events in TCIRG1 in most of the 28 human tissues studied. In addition, we observed that transcripts using the TV1 transcription start site and two splice forms previously described in a patient with infantile malignant osteopetrosis are also expressed in various tissues of healthy individuals. Studies of these nine splice forms in cytoplasmic RNA of peripheral blood mononuclear cells showed that at least six of them could be efficiently exported from the nucleus. Since various products with nearly ubiquitous tissue distribution are generated from TCIRG1, this gene may be involved in other processes besides immune response and bone resorption.

Smirnova, Anna S. [Immunogenetics Division, Pediatrics Department, Universidade Federal de Sao Paulo (UNIFESP-EPM), Sao Paulo (Brazil); Morgun, Andrey [Immunogenetics Division, Pediatrics Department, Universidade Federal de Sao Paulo (UNIFESP-EPM), Sao Paulo (Brazil)]. E-mail: anemorgun@hotmail.com; Shulzhenko, Natalia [Immunogenetics Division, Pediatrics Department, Universidade Federal de Sao Paulo (UNIFESP-EPM), Sao Paulo (Brazil); Silva, Ismael D.C.G. [Gynecology Department, Universidade Federal de Sao Paulo (UNIFESP-EPM), Sao Paulo (Brazil); Gerbase-DeLima, Maria [Immunogenetics Division, Pediatrics Department, Universidade Federal de Sao Paulo (UNIFESP-EPM), Sao Paulo (Brazil)

2005-05-13

324

[Cooperative documentation of childhood malignancies (author's transl)].  

PubMed

Since January 1980 a nationwide documentation of childhood malignancies is performed in the FRG. The cooperative documentation system is supported by the Stiftung Volkswagen-werk and centralized at the Institut für Medizinische Statistik und Dokumentation (IMSD) of the university of Mainz. During the first year of the project the incidence of 1002 malignancies has been reported from a total of 62 hospitals with a still increasing number of cooperating centers. The documentation scheme is based on recommendations of the ADT (working group of tumor centers in the FRG) which are in accordance with international recommendations by the W.H.O., U.I.C.C. etc. A newly diagnosed malignancy is reported by a short standardized form to the IMSD which in turn sends out tumor-specific questionnaires of modular structure for obtaining relevant baseline variables. Patient follow-up is achieved by obtaining the status of all patients at least twice a year which is sent in a condensed format to the IMSD. Besides obtaining basic epidemiological data the system will provide detailed analyses on the course of the different malignancies, allow comparisons between different disease groups as well as different hospitals and will serve as a recruiting basis for controlled clinical trials. PMID:7265796

Kaatsch, P; Michaelis, J

1981-05-01

325

Integrating the Diagnosis of Childhood Malignancies  

Microsoft Academic Search

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

DOLORES LÓPEZ-TERRADA

326

Treatment of malignant gliomas with neutron radiation  

SciTech Connect

The author contends that neutron radiation therapy coupled with radiation therapy or other forms of particle radiation therapy may play a role in the management of malignant gliomas. Improved survival, particularly for the patients with the diagnosis of glioblastoma, is discussed.

Griem, M.L.

1985-11-01

327

Noninvasive imaging of oral premalignancy and malignancy  

E-print Network

- plasia and malignancy. © 2005 Society of Photo-Optical Instrumentation Engineers. DOI: 10 precursors remains the best way to ensure patient survival and quality of life. Our specific aim is to test pouch model 120 hamsters , in vivo optical coherence tomography OCT and op- tical Doppler tomography ODT

Chen, Zhongping

328

Malignant phyllodes tumor of the left atrium  

PubMed Central

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

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

2014-01-01

329

Malignant phyllodes tumor of the left atrium.  

PubMed

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

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

2014-01-01

330

Malignant transformation of an iris melanocytoma  

Microsoft Academic Search

A 34-year-old Caucasian woman was diagnosed as having a pigmented iris tumor showing recent growth and satellite lesions. The tumor was associated with pigmentation of the anterior chamber angle and secondary unilateral glaucoma. After local excision, histopathologic studies revealed the plump polyhedral cells typical of melanocytoma. However, the examination of additional sections showed evidence of malignancy. The diagnosis of a

Arnaldo P. Cialdini; Jose A. Sahel; Alex E. Jalkh; John J. Weiter; Kamal Zakka; Daniel M. Albert

1989-01-01

331

Diagnosis and treatment of malignant pleural effusion  

Microsoft Academic Search

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

Frederick H. Hausheer; John W. Yarbro

1987-01-01

332

Mangement of malignant melanomas: an overview.  

PubMed

This paper presents an overview of the management of malignant melanoma. It considers the value of wide reexcision relative to the depth of invasion of the melanoma. It considers the indications for elective lymphadenectomy and presents a critical review of chemotherapy, immunotherapy and other procedures, such as X ray. The conclusion is that surgery, wherever feasible, is still the best approach. PMID:762300

Epstein, W L

1979-02-01

333

[Paratesticular malignant mesothelioma. Presentation of a case].  

PubMed

We report a case of malignant mesothelioma of tunica vaginalis in a 65-year-old man. The clinical course was marked by local relapse and distant metastases. Based on a review of the literature, the authors discuss the clinical, epidemiological and therapeutic aspects. PMID:9657035

Melhouf, M M; Elghazi el-A; Errihani, H; Sifat, H; Hadadi, K; Kanouni, L; Mansouri, H; Alhilal, M; Mansouri, A; Benjaafar, N; Elgueddari B el-K

1998-01-01

334

Malignant hyperthermia: Perianesthesia recognition, treatment, and care  

Microsoft Academic Search

Although relatively uncommon, malignant hyperthermia (MH) can be a life-threatening crisis when it occurs intraoperatively or postoperatively. It is imperative that every member of the perianesthesia team knows what to do and works cohesively because it is a true emergency. This article reviews information for perianesthesia nurses, perioperative nurses, and anesthesia providers about agents that trigger MH; early and late

Mary C. Redmond

2001-01-01

335

Hyperparathyroidism After Irradiation for Childhood Malignancy  

SciTech Connect

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.

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

336

Malignant solitary fibrous tumor involving the liver  

PubMed Central

Solitary fibrous tumors are predominantly benign and are most commonly found in the thoracic cavity and pleura; while reports exist in the literature of malignant solitary fibrous tumors and those located in extrathoracic organs, these cases are considered extremely rare. Herein, a case is reported of a malignant solitary fibrous tumor involving the liver that was diagnosed and treated in a 62-year-old woman. The patient presented with complaints of upper abdominal pain and unintentional weight loss. Computed tomography scan of the abdomen revealed a remarkably large mass, measuring 15 cm × 10 cm × 20 cm, which appeared to be unrelated to any particular organ. The intraoperative finding of a wide communication with the left liver suggested hepatic origin, and served as an indicator for tumor resection via left hemihepatectomy. The diagnosis of solitary fibrous tumor and its malignant nature was confirmed by histological and immunohistochemical examination of the resected tissues. Hepatic solitary fibrous tumor is very rare, and surgery remains the mainstay of treatment. Due to limited reports of such tumors in the literature, little can be said about the benefit of adjuvant therapy and prognosis for the rare cases with malignant histological findings. PMID:23745040

Jakob, Manuel; Schneider, Matthias; Hoeller, Ingo; Laffer, Urban; Kaderli, Reto

2013-01-01

337

Acute leukemia following treatment of malignant glioma  

Microsoft Academic Search

We report two patients with acute myeloid leukemia (AML) following therapy for malignant glioma; one was a young women treated heavily with alkylating agents for glioblastoma and the other a young man treated with high doses of procarbazine, lomustine, and vincristine (PCV) for anaplastic astrocytoma. We found 26 other examples of therapy related leukemia in adult and pediatric brain tumor

James R. Perry; Mark T. Brown; Jon P. Gockerman

1998-01-01

338

Anatomoclinical aspects of conjunctival malignant metastatic melanoma.  

PubMed

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

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

2014-01-01

339

Malignant melanoma of prepuce: case report.  

PubMed Central

A 58 year old man presented with what seemed to be a simple penile lesion, but which on subsequent histological examination proved to be a malignant melanoma. The lesion was excised by circumcision. No further treatment was considered to be necessary. Images PMID:3817816

Forrer, J A; Sugrue, D L

1986-01-01

340

Update in systemic therapy of urologic malignancies.  

PubMed

Systemic therapy of advanced prostate and renal cancers has gained several recent additions to the therapeutic armamentarium. Treatment of patients with castration-resistant prostate cancer now includes additional immunotherapy (sipuleucel-T), chemotherapy (cabazitaxel), androgen-signaling inhibitors (abiraterone acetate, enzalutamide), and a radiopharmaceutical (alpharadin), based on extension of patient survival. Similarly, therapy for patients with renal cell carcinoma, a chemoresistant malignancy, has undergone dramatic changes based on an understanding of the role of angiogenesis. Multiple vascular endothelial growth factor inhibitors (sorafenib, sunitinib, pazopanib, axitinib, bevacizumab) and mammalian target of rapamycin inhibitors (temsirolimus, everolimus) have been added to the therapeutic arsenal. Additionally, immunotherapy retains an important treatment role, with a continuing application of high-dose interleukin-2 in select patients and the emergence of novel immunotherapeutic agents that may have significant benefit. Other major urologic malignancies, including urothelial, testicular, and penile cancers, have witnessed relatively few or no recent advances in therapy, although testicular germ cell tumors are one of the most curable malignancies. An agent for treatment of advanced urothelial cancer now has commercial approval, the chemotherapeutic agent, vinflunine, as second-line therapy in multiple countries-but not in the United States. Our review summarizes and updates the field of systemic therapy for advanced urologic malignancies, with a focus on castration-resistant prostate cancer and renal cell carcinoma. PMID:24393751

Mooney, David; Paluri, Ravikumar; Mehta, Amitkumar; Goyal, Jatinder; Sonpavde, Guru

2014-01-01

341

Antibacterial therapy in patients with malignancies  

Microsoft Academic Search

Patients with malignant disease may be predisposed to bacterial infections because of neoplastic disruption of normal tissue barriers, exogenous immunosuppressive therapy (drugs with or without radiation), and intrinsic host immune deficits secondary to these diseases. Diminished polymorphonuclear leukocyte numbers or function and impaired humoral immunity are highly correlated with the development of serious bacterial infections. The usual signs and symptoms

Kenneth H. Mayer; Steven M. Opal

1987-01-01

342

Clinicopathologic analysis of malignant melanoma in Taiwan  

Microsoft Academic Search

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

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

1999-01-01

343

Malignant peripheral nerve sheath tumors in childhood  

Microsoft Academic Search

Malignant peripheral nerve sheath tumor (MPNST) is an uncommon sarcoma in the pediatric population; however, its presence should be considered in a child with an enlarging or painful soft-tissue mass. Diagnosis of this neoplasm depends on either the demonstration of its origin within a peripheral nerve or the association with a contiguous neurofibroma. We have identified 16 cases of MPNST

Barbara S Ducatman; Bernd W Scheithauer; David G Piepgras; Herbert M Reiman

1984-01-01

344

Multicentric malignant peripheral nerve sheath tumor  

Microsoft Academic Search

We present a case of malignant peripheral nerve sheath tumor of multicentric origin, an extremely rare condition. A 25-year-old man was admitted to hospital with presenting symptoms of cough, dyspnea and left lateral back pain. Computed tomography and magnetic resonance imaging revealed extrapleural masses in the left hemithorax in addition to synchronous left inguinal mass. After surgical resection of the

Ersin Ozturk; Iclal Erdem; Guner Sonmez; Aptullah Haholu; Huseyin Onur Sildiroglu; Hakan Mutlu; C. Cinar Basekim; Esref Kizilkaya

2007-01-01

345

Intrasellar malignant peripheral nerve sheath tumor (MPNST)  

Microsoft Academic Search

Summary  Intracranial malignant peripheral nerve sheath tumors (MPNST) and intrasellar schwannomas are rare tumors. We describe a case\\u000a of an intrasellar schwannoma with progression to a MPNST, a finding that, although very rare, extends the differential diagnosis\\u000a of intrasellar lesions.

N. Krayenbühl; F. Heppner; Y. Yonekawa; R. L. Bernays

2007-01-01

346

Midfacial Degloving Approach for Malignant Maxillary Tumors  

Microsoft Academic Search

Purpose: The aim of this work is to study the use of this technique in extirpation of malignant tumors of the maxillary sinus. This includes the exposure for adequate tumor resection and the preservation of as much as possible functional tissue integrity. This approach will be evaluated including the advantages and disadvantages as regards the physiological function, aesthetic outcome and

ASHRAF S. ZAGHLOUL; M. AKRAM NOUH; HISHAM ABD; EL FATAH

2004-01-01

347

Wavelengths effective in induction of malignant melanoma  

Microsoft Academic Search

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

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

1993-01-01

348

Therapeutic options for recurrent malignant glioma  

Microsoft Academic Search

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

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

2011-01-01

349

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

ERIC Educational Resources Information Center

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

Bryson, Carolyn Q.; Hingtgen, Joseph N.

350

Infantile spasms in a child with brain tumor: Seizure-free outcome after resection  

Microsoft Academic Search

A 17-month-old child had typical infantile spasms (IS) in association with a frontal lobe tumor. EEG showed hypsarrthmia, and typical IS were documented by video-EEG monitoring (no focal features were identified). Seizures ceased after surgical removal of the tumor, a ganglioglioma. We investigated the role of surgery in infants with West syndrome (WS) and lesions of various types.

Prakash Kotagal; Bruce H. Cohen; Joseph F. Hahn

1995-01-01

351

A new mouse model for infantile neuroaxonal dystrophy, inad mouse, maps to mouse Chromosome 1  

Microsoft Academic Search

Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive hereditary neurodegenerative disease of humans. So far, no responsible gene has been cloned or mapped to any chromosome. For chromosome mapping and positional cloning of the responsible gene, establishment of an animal model would be useful. Here we describe a new mouse model for INAD, named inad mouse. In this mouse,

Yoshibumi Matsushima; Tateki Kikuchi; Hisae Kikuchi; Nobutsune Ichihara; Akira Ishikawa; Yasushi Ishijima; Masayoshi Tachibana

2005-01-01

352

Histological and ultrastructural features of dystrophic isocortical axons in infantile neuroaxonal dystrophy (Seitelberger's disease)  

Microsoft Academic Search

The histological and ultrastructural features of axonal swellings are described in a cerebral biopsy specimen from a 6-year-old girl with infantile neuroaxonal dystrophy. In agreement with previous reports, several swellings were identified as axonal terminals, and it is postulated that the prevailing axonal swellings in cerebral cortex represent dystrophic boutons. Microscopically, dystrophic cortical boutons are morphologically different from typical subcortical

G. A. de Ledn; M. H. Mitchell

1985-01-01

353

A new infantile case of alpha-N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptom.  

PubMed

alpha-N-Acetylgalactosaminidase deficiency is a lysosomal disorder with clinically very different infantile and adult forms. To date, 12 patients from eight families are known. Neuroaxonal dystrophy or moderate psychomotor retardation, without visceral involvement, have been reported in the infantile form. We describe a new Spanish patient with Schindler disease who presented with hepatomegaly and cardiomyopathy, traits not previously associated with this disease. There was no dysmorphism or neurological involvement in the patient, who died at the age of 8 months. alpha-N-Acetylgalactosaminidase activity was reduced in fibroblasts and liver to 1.6% and 0.57% of controls, respectively. Several lysosomal enzyme activities associated with infantile cardiomyopathy were found in the normal ranges. The patient was a compound heterozygote for the novel mutation p.D217N (c.649G>A) in exon 6 and the already reported mutation p.E325K (c.973G>A) in exon 8. The description of this new case broadens the clinical spectrum of the infantile forms and indicates that Schindler disease should be considered in the diagnosis of metabolic cardiomyopathies. PMID:17171432

Chabás, A; Duque, J; Gort, L

2007-02-01

354

Genome-wide linkage analysis in families with infantile hypertrophic pyloric stenosis indicates novel susceptibility loci  

Microsoft Academic Search

Infantile hypertrophic pyloric stenosis (IHPS) is a common cause of upper gastrointestinal obstruction during infancy. A multifactorial background of the disease is well established. Multiple susceptibility loci including the neuronal nitric oxide synthase (NOS1) gene have previously been linked to IHPS, but contradictory results of linkage studies in different materials indicate genetic heterogeneity. To identify IHPS susceptibility loci, we conducted

Anna Svenningsson; Cilla Söderhäll; Sofia Persson; Fredrik Lundberg; Holger Luthman; Eddie Chung; Mark Gardiner; Ingrid Kockum; Agneta Nordenskjöld

2012-01-01

355

Infantile Amnesia across the Years: A 2-Year Follow-Up of Children's Earliest Memories  

ERIC Educational Resources Information Center

Although infantile amnesia has been investigated for many years in adults, only recently has it been investigated in children. This study was a 2-year follow-up and extension of an earlier study. Children (4-13 years old) were asked initially and 2 years later for their earliest 3 memories. At follow-up, their age at the time of these memories…

Peterson, Carole; Warren, Kelly L.; Short, Megan M.

2011-01-01

356

Epidemiology of Infantile Hydrocephalus in Saudi Arabia: Birth Prevalence and Associated Factors  

Microsoft Academic Search

Introduction: Hydrocephalus is a common central nervous system disorder in children. In spite of its importance, it has not been subjected to sufficient epidemiological studies, particularly in the developing countries. The aim of this study was to provide information from a representative series of newly diagnosed cases of infantile hydrocephalus on the birth prevalence, associated factors and mortality. Methodology: A

Waleed Rida Murshid; Jamal Saleh Jarallah; Mohammad Imam Dad

2000-01-01

357

Congenital microcephaly, infantile spasms, psychomotor retardation, and nephrotic syndrome in two sibs  

Microsoft Academic Search

Two boys are described with congenital microcephaly, infantile spasms, psychomotor retardation and an early-onset nephrotic syndrome. The autopsy findings of one patient are described in detail. Polymicrogyria was the most prominent feature and the kidneys showed focal segmental glomerulosclerosis. These findings have been described as a clinical entity, the leading symptoms being congenital microcephaly, early-onset nephrotic syndrome and mental retardation,

R. A. C. Roos; P. D. Maaswinkel-Mooy; E. M. Loo; H. H. H. Kanhai

1987-01-01

358

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

ERIC Educational Resources Information Center

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…

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

2007-01-01

359

Early infantile epileptic encephalopathy: a long-term follow-up study  

Microsoft Academic Search

The authors describe the eletroclinical aspects and long-term evolution of five (in one male and four female patients) cases of early infantile epileptic encephalopathy. In the neonatal period, the most common seizures were tonic spasms (either generalized or lateralized) that, very often, occurred in series. All newborns showed the typical suppression-burst pattern. The neurological status (initially normal) progressively deteriorated in

A. Verrotti; S. Domizio; G. Sabatino; G. Morgere

1996-01-01

360

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

Microsoft Academic Search

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

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

1984-01-01

361

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

Microsoft Academic Search

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

J. Lussier-Lazaroff; B. D. Fletcher

1973-01-01

362

Idiopathic infantile arterial calcification in two siblings: failure of treatment with diphosphonate.  

PubMed Central

Two siblings with idiopathic infantile arterial calcification are reported. The fetal and postnatal echocardiographic features were a large pericardial effusion, thickened pulmonary and aortic valves, poor pulsation of the descending aorta, and calcification of the great vessels. In one patient calcification was first detected at 33 weeks' gestation. Despite treatment with disodium etidronate both children died. Images PMID:2118367

Stuart, G; Wren, C; Bain, H

1990-01-01

363

On Human Symbiosis and the Vicissitudes of Individuation. Infantile Psychosis, Volume 1.  

ERIC Educational Resources Information Center

The concepts of symbiosis and separation-individuation are explained, and the symbiosis theory of infantile psychosis is presented. Diagnostic considerations and clinical cases of child psychosis are reviewed; prototypes of mother-child interaction are described; and therapy is discussed. A summary of the symbiosis theory and a bibliography of…

Mahler, Margaret S.

364

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

Microsoft Academic Search

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

T. Kusafuka; P. Puri

1997-01-01

365

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

Microsoft Academic Search

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

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

1995-01-01

366

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

Microsoft Academic Search

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

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

1996-01-01

367

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

Microsoft Academic Search

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

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

368

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

Microsoft Academic Search

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

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

369

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

Microsoft Academic Search

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

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

2006-01-01

370

XXY: The Hidden Disability and a Prototype for an Infantile Presentation of Developmental Dyspraxia (IDD).  

ERIC Educational Resources Information Center

There is an increased incidence of language-learning disabilities with dyslexia by school age. As infants and toddlers, these children have neuromotor and speech dysfunction within their first year. This article postulates that the language and motor dysfunction is caused by infantile presentation of developmental dyspraxia rather than a…

Samango-Sprouse, Carole; Rogol, Alan

2002-01-01

371

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

ERIC Educational Resources Information Center

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…

Sanua, Victor D.

372

Anogenital malignancies and premalignancies: facts and controversies.  

PubMed

Anogenital malignancies and premalignancies are an important personal/public health problem due to their effects on individuals' physical, mental, and sexual health. Also, due to their etiological association with human papillomavirus (HPV) infection, anogenital malignancies and premalignancies constitute an immense public health burden. In addition to HPV infection, immunosuppression, HIV infection, chronic dermatoses, such as lichen sclerosis, previous radiotherapy and chemotherapy treatments, and smoking, are the other important etiopathologic factors in the development of anogenital malignancies and premalignancies. The incidence of anal squamous cell carcinoma (SCC) has increased considerably in the past decade, mainly due to the growing number of cases in high-risk groups, such as men who have sex with men, immunosuppressed individuals, and patients with HIV infection. Also, an increase in vulvar intraepithelial neoplasia (VIN) and VIN-related invasive vulvar cancer has been noted in women younger than age 50 years due to its association with HPV infections over the past decade. SCC of the scrotum seems to be the first cancer linked to occupational exposure. Bowen's disease, Bowenoid papulosis, and erythroplasia of Queyrat are the most widely seen premalignancies of anogenital region and are all forms of squamous intraepithelial neoplasia. Histopathologically, these conditions share identical histologic features of SCC in situ, but their clinical features differ. Early diagnosis is vital to improve prognosis, especially in anogenital malignancies. Also, if a delay occurs in diagnosis, treatment options used will be associated with significant negative effects on the patient's psychological well-being and quality of life; hence, management of anogenital malignancies and premalignancies should be organized in a multidisciplinary fashion. PMID:23806153

Kutlubay, Zekayi; Engin, Burhan; Zara, Tuba; Tüzün, Yalç?n

2013-01-01

373

Long Term Clinical Outcomes of Malignant Meningiomas  

PubMed Central

Objective Malignant meningiomas are rare and have worse prognosis than benign meningiomas. We report our experience of a malignant meningioma and review relevant literature in an attempt to investigate the clinical features, treatment, and prognosis of these tumors. Methods Fifteen patients underwent surgical treatment for intracranial malignant meningiomas between year 1990 and 2012 in our institution. Anaplastic meningiomas were diagnosed in thirteen cases and papillary meningiomas in two. Fourteen patients (93.3%) received radiotherapy after surgical resection. All patients were followed regularly including clinical-neurological follow-up as well as magnetic resonance imaging. Progression was determined radiographically when there was more than 10% of mass volume increase or when there were onset or worsening of neurological symptoms not attributable to other causes. Results Six patients were male and nine were women, and their mean age was 56.9 years (range 36-78). The median follow-up was 54 months (range 3-246). According to our study result, the 5-year progression free survival rate of malignant meningiomas was 53.6%. There were 2 cases (13.3%) of postoperative complications. Recurrences were confirmed in 4 patients (26.7%) during follow-up, the median recurrence time was 35 months (range 12-61), and further procedures were performed. Two of the recurred patients were treated with radiosurgery after secondary tumor resection, and other two patients were treated with radiosurgery alone. There was no more recurred disease patients in the follow-up period after then. Conclusion We report the outcomes of the aggressive surgery with radiation of malignant meningiomas. Although the data is limited, we found that radiosurgery treatment had favorable tumor control on recurred patients from our experience. PMID:24904897

Lim, Yu Seok; Park, Bong Jin; Kim, Tae Sung; Lim, Young Jin

2013-01-01

374

Computerderived Nuclear Features Distinguish Malignant from Benign Breast Cytology.  

E-print Network

1 Wolberg Computer­derived Nuclear Features Distinguish Malignant from Benign Breast Cytology cancer, image processing, cytology, diagnosis, inductive machine learning Corresponding author William H features. These features are then tested to distinguish between benign and malignant breast cytology

Street, Nick

375

What's New in Malignant Mesothelioma Research and Treatment?  

MedlinePLUS

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

376

Diagnostic value of biochemical biomarkers in malignant and non-malignant pericardial effusion.  

PubMed

The aim of this study was to examine the biochemical composition of pericardial effusions of different etiology and to evaluate the diagnostic utility of biochemical parameters and tumor markers to discriminate malignant from benign effusion. Pericardial and serum levels of biochemical parameters and tumor markers were compared in 105 patients who underwent pericardiocentesis and pericardioscopy with targeted epicardial biopsy. Etiologic diagnosis was based on pericardial fluid and epicardial biopsy analysis by cytology, histology, immunohistochemistry, microbiology and polymerase chain reaction. The total of 105 patients comprised 29 patients with malignant and 76 patients with non-malignant pericardial effusions (40 autoreactive, 28 viral, 5 postcardiotomy syndromes and 3 associated with systemic diseases). Malignant pericardial effusions had significantly higher pericardial fluid levels of the tumor markers CEA, CA 19-9, CA 72-4, SCC and NSE (p < 0.001, p = 0.002, p < 0.001, p = 0.004 and p < 0.001, respectively) as well as higher pericardial fluid hemoglobin (p < 0.001), pericardial fluid white blood cells (p = 0.003), pericardial fluid LDH (p < 0.001) and ratio of pericardial to serum LDH levels compared to benign effusions. None of the biochemical or cell-count parameters tested proved to be accurate enough for distinguishing malignant from benign effusions. However, measurement of pericardial CA 72-4 levels offered a high diagnostic accuracy for malignancy, particularly in bloody pericardial effusions. None of the biochemical parameters tested was useful for the discrimination of malignant from benign effusions. However, measurement of pericardial CA 72-4 levels in bloody pericardial effusions yielded a high diagnostic accuracy and thus offers the potential as a diagnostic tool to distinguish between malignant and benign effusions. PMID:22638889

Karatolios, Konstantinos; Pankuweit, Sabine; Maisch, Bernhard

2013-05-01

377

Sun exposure related methylation in malignant and non-malignant skin lesions  

Microsoft Academic Search

We investigated the aberrant promoter methylation status of 12 genes in skin lesions, both malignant (basal cell carcinomas (BCCs), n=68 and squamous cell carcinomas (SCCs), n=35) and non-malignant (tags, n=58) skin lesions and compared the results of lesions from sun exposed (SE) and sun protected (SP) regions. Methylation was studied using a methylation specific PCR (MSP) and methylation of CDH1

Ubaradka G. Sathyanarayana; Angela Yen Moore; Lin Li; Asha Padar; Kuntal Majmudar; Victor Stastny; Prakash Makarla; Makoto Suzuki; John D. Minna; Ziding Feng; Adi F. Gazdar

2007-01-01

378

Remarkably Suppressed Manganese Superoxide Dismutase Activity in Malignant Pheochromocytoma  

Microsoft Academic Search

There are almost no special histopathological characteristics or criteria that exactly define a malignant pheochromocytoma. Tissue concentrations of catecholamine metabolites and superoxide dismutase activity have been proposed as possible candidates for discriminating between benign and malignant pheochromocytomas. Tissue concentrations of dihydroxyphenylalanine, metanephrine, normetanephrine, vanillylmandelic acid, and 3-methoxy-4-hydroxyphenylethylglycol were determined in 29 normal adrenal medullas, 13 benign pheochromocytomas and 6 malignant

Teruhiro Nakada; Yoko Kubota; Isoji Sasagawa; Takashi Yagisawa; Morihiro Watanabe; Manabu Ishigooka

1995-01-01

379

Malignant endocrine tumors in patients with MEN 1 disease  

Microsoft Academic Search

Background. In contrast with multiple endocrine neoplasia type 2, malignancies are of minor importance in multiple endocrine neoplasia type 1 (MEN 1) syndrome. Methods. The data for 42 patients with MEN 1 syndrome were evaluated. Twelve patients (29%) had 1 or more associated malignancies: malignant gastrinoma (1 patient), neuroendocrine tumors of the thymus (2 patients), neuroendocrine tumors of the lung

Cornelia Dotzenrath; Peter E. Goretzki; Kenko Cupisti; Qin Yang; Dietmar Simon; Hans-Dietrich Röher

2001-01-01

380

Some Benign and Malignant Neoplasms of Michigan Cottontail Rabbits  

Microsoft Academic Search

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

L. D. FAY; Center Route

381

Effects of Radiation on a Model of Malignant Glioma Invasion  

Microsoft Academic Search

We sought to characterize the effects of radiation alone and in combination with BCNU and dexamethasone on malignant glioma invasion. A model of malignant glioma invasion into a gel matrix of collagen type I was used to characterize response to radiation treatment for four malignant glioma cell lines (C6, U251, U373, A172) and nine primary human glioblastoma explants. A radiation

Glenn S. Bauman; Warren MacDonald; Emi Moore; David A. Ramsey; Barbara J. Fisher; Verena R. Amberger; Rolando M. Del Maestro

1999-01-01

382

Clozapine Withdrawal Catatonia and Neuroleptic Malignant Syndrome: A Case Report  

Microsoft Academic Search

Catatonia as a clozapine withdrawal syndrome has not been documented. We report a case of excited catatonia with fever, autonomic instability, and delirium—a picture of malignant catatonia (lethal catatonia) after abrupt clozapine withdrawal. The use of conventional neuroleptics transformed the excited malignant catatonia into a stuporous state resembling neuroleptic malignant syndrome (NMS). Such a transformation of excited lethal catatonia into

Joseph W. Y. Lee; Stephen Robertson

1997-01-01

383

Endosonographic differentiation of benign and malignant stromal cell tumors  

Microsoft Academic Search

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

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

384

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

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.

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

385

Large ulcerated cecal lipoma mimicking malignancy  

PubMed Central

Colonic lipomas are relatively uncommon tumors of mesenchymal origin, composed of well-differentiated adipose tissue supported by fibrous tissue, that usually occur in cecum and ascending colon. Colonic lipomas rarely cause symptoms and are usually detected incidentally. However, if the lesion is large, it may produce symptoms, such as abdominal pain, rectal bleeding, obstruction, intussusception, and even weight loss. Large colonic lipomas can be mistaken for malignancy, which may result in extensive surgical operations. We report a large broad-based ulcerated cecal lipoma in a 68-year-old woman, who presented with abdominal pain and weight loss. The ulcerated lesion was highly suspicious for malignancy radiologically and endoscopically. The patient underwent laparoscopic right-hemicolectomy, and the lesion was diagnosed as a cecal submucosal lipoma. The surgical approach remains the treatment of choice for large and complicated cases. PMID:21160661

Zhang, Xuchen; Ouyang, Jie; Kim, Yong-Doo

2010-01-01

386

Rechallenging clozapine after neuroleptic malignant syndrome.  

PubMed

Neuroleptic malignant syndrome (NMS) is a potentially fatal manifestation of antipsychotic use associated with symptoms that include mental status changes, muscle rigidity, fever and autonomic dysfunction. An occurrence of NMS with clozapine has been reported in the past but there are very few reports of successfully rechallenging the drug in individuals who have developed the syndrome. This case report discusses one of the few instances in literature where clozapine has been re-administered successfully to a patient without a reoccurrence of NMS. In conclusion, a rechallenge of clozapine after neuroleptic malignant syndrome can be done if care is taken to avoid concurrent use of lithium and other psychotropics, monitoring for NMS symptoms and titrating the dose upward slowly after a reasonable period of time. PMID:24633526

Anbalagan, Emaya; Ithman, Muaid; Lauriello, John

2014-09-01

387

Therapeutic vaccines for malignant brain tumors  

PubMed Central

Malignant gliomas are the most common and aggressive form of brain tumors. Current therapy consists of surgical resection, followed by radiation therapy and concomitant chemotherapy. Despite these treatments, the prognosis for patients is poor. As such, investigative therapies including tumor vaccines have targeted this devastating condition. Recent clinical trials involving immunotherapy, specifically dendritic cell (DC) based vaccines, have shown promising results. Overall, these vaccines are well tolerated with few documented side effects. In many patients receiving vaccines, tumor progression was delayed and the median overall survival of these patients was prolonged. Despite these encouraging results, several factors have limited the efficacy of DC vaccines. Here we discuss the potential of DC vaccines as adjuvant therapy and current obstacles of generating highly pure and potent DC vaccines in the context of malignant glioma. Taken together, the results from earlier clinical studies justify additional clinical trials aimed at improving the efficacy of DC vaccines. PMID:19707456

Gustafson, Michael P; Knutson, Keith L; Dietz, Allan B

2008-01-01

388

Malignant vascular tumors--an update.  

PubMed

Although benign hemangiomas are among the most common diagnoses amid connective tissue tumors, sarcomas showing endothelial differentiation (ie, angiosarcoma and epithelioid hemangioendothelioma) represent under 1% of all sarcoma diagnoses, and thus it is likely that fewer than 500 people in the United States are affected each year. Differential diagnosis of malignant vascular tumors can be often quite challenging, either at the low end of the spectrum, distinguishing an epithelioid hemangioendothelioma from an epithelioid hemangioma, or at the high-grade end of the spectrum, between an angiosarcoma and a malignant epithelioid hemangioendothelioma. Within this differential diagnosis both clinico-radiological features (ie, size and multifocality) and immunohistochemical markers (ie, expression of endothelial markers) are often similar and cannot distinguish between benign and malignant vascular lesions. Molecular ancillary tests have long been needed for a more objective diagnosis and classification of malignant vascular tumors, particularly within the epithelioid phenotype. As significant advances have been recently made in understanding the genetic signatures of vascular tumors, this review will take the opportunity to provide a detailed update on these findings. Specifically, this article will focus on the following aspects: (1) pathological and molecular features of epithelioid hemangioendothelioma, including the more common WWTR1-CAMTA1 fusion, as well as the recently described YAP1-TFE3 fusion, identified in a morphological variant of epithelioid hemangioendothelioma; (2) discuss the heterogeneity of angiosarcoma clinical, morphological and genetic spectrum, with particular emphasis of MYC and FLT4 gene amplification in radiation-induced angiosarcoma; and (3) provide a practical guide in the differential diagnosis of epithelioid vascular tumors using molecular testing. PMID:24384851

Antonescu, Cristina

2014-01-01

389

External Anogenital Premalignant and Malignant Disease  

Microsoft Academic Search

The external anogenital area comprises the anus, perianal skin, and the adjacent external genitalia including the vulva and\\u000a vaginal introitus in the female, and the penis and scrotum in the male. Immunosuppressed organ transplant recipients (OTR)\\u000a are prone to viral infections, and have an increased incidence of human papillomavirus (HPV) associated premalignant and malignant\\u000a neoplasms, which specifically target the anogenital

Karen L. Gibbon; Arucha L. Ekeowa-Anderson; Irene M. Leigh

390

Green Tea: Nature's Defense against Malignancies  

Microsoft Academic Search

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

Masood Sadiq Butt; Muhammad Tauseef Sultan

2009-01-01

391

Malignant solitary fibrous tumor of the esophagus  

Microsoft Academic Search

Solitary fibrous tumor (SFT) of the esophagus has been very rarely reported in literature. Herein, we report a case of a successful surgically treated malignant solitary fibrous tumor of the esophagus. A 36-year-old woman was admitted at our hospital with an erroneous ultrasound-based diagnosis of cervico-mediastinal goiter. Surprisingly, the preoperative diagnostic work-up, including a computed tomographic chest scan, endoscopy, and

Filippo Lococo; Alfredo Cesario; Antonino Mulè; Stefano Margaritora

2011-01-01

392

Malignant solitary fibrous tumor of the tongue  

Microsoft Academic Search

Solitary fibrous tumor is a generally benign spindle-cell neoplasm that has been predominantly described in the visceral pleura and other serosal sites and is extremely rare in the head and neck area. We report the first known case of malignant solitary fibrous tumor of the tongue in a 57-year-old female patient who experienced rapid growth of a longstanding right anterior

Yelizaveta Shnayder; Barak J Greenfield; Thaira Oweity; Mark D DeLacure

2003-01-01

393

Hyperparathyroidism After Irradiation for Childhood Malignancy  

Microsoft Academic Search

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

Todd McMullen; Greg Bodie; Anthony Gill; Catharina Ihre-Lundgren; Albert Shun; Mary Bergin; Graham Stevens; Leigh Delbridge

2009-01-01

394

Targeted molecular therapy of malignant gliomas  

Microsoft Academic Search

Malignant gliomas are the most common form of primary brain tumors in adults. Despite advances in diagnosis and standard therapies\\u000a such as surgery, radiation, and chemotherapy, the prognosis remains poor. Recent scientific advances have enhanced our understanding\\u000a of the biology of gliomas and the role of tyrosine kinase receptors and signal transduction pathways in tumor initiation and\\u000a maintenance, such as

Santosh Kesari; Naren Ramakrishna; Claire Sauvageot; Charles D. Stiles; Patrick Y. Wen

2005-01-01

395

Targeted molecular therapy of malignant gliomas  

Microsoft Academic Search

Malignant gliomas are the most common form of primary brain tumors in adults. Despite advances in diagnosis and standard therapies\\u000a such as surgery, radiation, and chemotherapy, the prognosis remains poor. Recent scienti fic advances have enhanced our understanding\\u000a of the biology of gliomas and the role of tyrosine kinase receptors and signal transduction pathways in tumor initiation and\\u000a maintenance, such

Santosh Kesari; Naren Ramakrishna; Claire Sauvageot; Charles D. Stiles; Patrick Y. Wen

2006-01-01

396

Pulmonary malignant peripheral nerve sheath tumour.  

PubMed

Malignant peripheral nerve sheath tumours (MPNSTs) may occur in any peripheral nerve. They are often found in the chest wall and the posterior mediastinum. On the other hand, primary pulmonary MPNST is extremely rare, and surgically treated cases have been reported. Here, we present 3 cases of primary MPNST originating from the pulmonary parenchyma who underwent surgery in our institution. We discuss the possible clinical and pathological associations in the view of the literature. PMID:24282191

Inci, Ilhan; Soltermann, Alex; Schneiter, Didier; Weder, Walter

2014-08-01

397

Cohesin mutations in myeloid malignancies: underlying mechanisms  

PubMed Central

Recently, whole genome sequencing approaches have pinpointed mutations in genes that were previously not associated with cancer. For Acute Myeloid Leukaemia (AML), and other myeloid disorders, these approaches revealed a high prevalence of mutations in genes encoding the chromosome cohesion complex, cohesin. Cohesin mutations represent a novel genetic pathway for AML, but how AML arises from these mutations is unknown. This review will explore the potential mechanisms by which cohesin mutations contribute to AML and other myeloid malignancies. PMID:24904756

2014-01-01

398

Leser-Tr?lat Sign without Internal Malignancy  

PubMed Central

Leser-Trélat sign is characterized by the abrupt appearance of multiple seborrheic keratoses in association with underlying malignant disease. A case of Leser-Trélat sign in a 66-year-old healthy woman is presented. Evaluation and follow-up for the development of malignancy over a 2-year period failed to reveal any evidence of malignancy. To date, almost all cases of Leser-Trélat sign have been reported in association with an underlying malignancy. It is less known that Leser-Trélat sign can also occur in healthy individuals in the absence of internal malignancy. PMID:21526136

Safa, Gilles; Darrieux, Laure

2011-01-01

399

Primary malignant hepatic glucagonoma: an autopsy case.  

PubMed

A 73-year-old woman was admitted to our department for treatment of diabetes (plasma glucose 289 mg/dl, HbA(1C) 7.1%, and glycated albumin 34.9%). She displayed the signs and symptoms of glucagonoma syndrome, including necrolytic migratory erythema (NME), low aminoacidemia, and a marked increase of the serum glucagon level (4,940 pg/ ml). Thus, we suspected a glucagonoma causing secondary diabetes. However, we could not detect any mass in the pancreas or the gastrointestinal tract, and only found a liver lesion resembling a hemangioma. Her NME improved markedly after intravenous infusion of amino acids, and her plasma glucose was controlled reasonably well by intensive insulin therapy. However, her general condition deteriorated and she died on day 57 after hospitalization. At autopsy, the only tumor detected was the liver mass. This was a large solid tumor (8 x 6 x 5 cm) with a pattern of white and dark brown stripes located in the left lobe, while two white nodules were also found in the right lobe. Based on the histopathological and immunohistochemical findings, the liver lesion was shown to be a malignant glucagonoma with intrahepatic metastases. Since primary malignant hepatic glucagonoma has not been reported before, we present this extremely rare case of primary malignant glucagonoma of the liver. PMID:19367016

Obi, Naoko; Katabami, Takuyuki; Obi, Ryusei; Odanaka, Mieko; Sasano, Kiminobu; Tanaka, Yasushi

2009-01-01

400

[Malignant peritoneal mesothelioma tumours. Evolution, treatment, prognosis].  

PubMed

Malignant mesothelioma of the peritoneum is a rare neoplasm with a rapidly fatal course. The median survival range is from 5 to 12 months in untreated cases with little improvement seen in patients receiving multimodality therapy. Although most cases occur in the fifth and sixth decades, peritoneal mesothelioma can be seen in any age group. Approximately 30% of all mesotheliomas arise solely from the peritoneum. Asbestos exposure, primarily of the crocidolite variety, has been implicated in the pathogenesis of this malignancy, as was established in South Africa in the 1960s. Half of reported cases have a history of asbestos exposure. The diagnosis of peritoneal mesothelioma is often delayed, in part because of the usually long latent period (peaking at 40-45 years from the time of initial exposure to asbestos) and because the common presenting symptoms of weight loss, usually with a full abdomen, malaise, and abdominal discomfort, are mild and nonspecific. This paper aim is to present a case report regarding a patient diagnosed with malignant peritoneal mesothelioma with an unpredictable evolution. PMID:18293699

Scripcariu, V; Dajbog, Elena; Radu, I; Ferariu, D; Pricop, Adriana; Grigora?, M; Dragomir, C

2007-01-01

401

Malignant external otitis: early scintigraphic detection  

SciTech Connect

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.

Strashun, A.M.; Nejatheim, M.; Goldsmith, S.J.

1984-02-01

402

Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation  

Microsoft Academic Search

Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disorder characterized by infantile onset and rapid progression of psychomotor regression and hypotonia evolving into spasticity. The neuroradiologic hallmark of the disease is represented by cerebellar atrophy and signal hyperintensity in the cerebellar cortex on MR T2-weighted images. We report a 2-year-old boy with psychomotor regression and hypotonia carrying a homozygous 5?

Roberta Biancheri; Andrea Rossi; Giannina Alpigiani; Mirella Filocamo; Carlo Gandolfo; Renata Lorini; Carlo Minetti

2007-01-01

403

Low-grade malignant perineurioma of the paravertebral column, transforming into a high-grade malignancy.  

PubMed

A demarcated 6 x 5 cm right paravertebral tumor at the level of T6 in a 39-year-old male was removed surgically. Histologically, the tumor consisted of monomorphous benign-looking, low-cellular spindle cells embedded in desmoplastic stroma. Ten years later, the tumor recurred locally with metastasis to systemic organs, including the occipital skin. Malignancy was histologically evident by the increased cellularity, cellular atypia and mitotic activity. The patient died of respiratory failure at the age of 49. Retrospectively reviewed, the primary lesion was low-grade fibrosarcoma-like spindle cell tumor, with secondary transformation into a highly malignant form. The differential diagnoses included sclerosing epithelioid fibrosarcoma, low-grade fibromyxoid sarcoma and malignant peripheral nerve sheath tumor. Immunohistochemically, the spindle cells in the primary and recurrent tumors consistently expressed epithelial membrane antigen, vimentin, type 4 collagen and laminin. The tumor cells in the present case showed a differentiation toward perineurial cells, which are normally positive for these immunohistochemical markers. Hence, the appropriate diagnostic term should be 'malignant perineurioma', a subtype of malignant peripheral nerve sheath tumor. PMID:10504555

Karaki, S; Mochida, J; Lee, Y H; Nishimura, K; Tsutsumi, Y

1999-09-01

404

Cause-Specific Mortality Due to Malignant and Non-Malignant Disease in Korean Foundry Workers  

PubMed Central

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

Yoon, Jin-Ha; Ahn, Yeon-Soon

2014-01-01

405

Diagnostic difficulties in infantile neuroaxonal dystrophy. A clinicopathological study of eight cases.  

PubMed

The clinical features of eight children with infantile neuroaxonal dystrophy are presented. Diagnosis was established by brain biopsy (4 cases), conjunctival biopsy (1 case), and the family history (2 cases), while in one case a presumptive diagnosis was made on the combination of clinical and neurophysiological findings without histopathological confirmation. The pleomorphic clinical picture and variable neurophysiological findings make a firm diagnosis difficult without histopathological confirmation. However, in the appropriate clinical context, serial neurophysiological investigations (ERG, VEP, EEG, ENMG) may suggest the diagnosis after the age of 2 years. Conjunctival biopsy is not invariably helpful, and neuroaxonal spheroïds are not always demonstrated in brain biopsies by conventional techniques. However, they were consistently identified using a non-specific esterase stain and by electron microscopy. This technique is described, and the significance of ultrastructural and neuropathological findings in infantile neuroaxonal dystrophy is discussed. PMID:3683759

Ramaekers, V T; Lake, B D; Harding, B; Boyd, S; Harden, A; Brett, E M; Wilson, J

1987-08-01

406

Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset.  

PubMed

The infantile-onset axonal neuropathies and neuronopathies are an uncommon and heterogeneous group of conditions causing weakness, wasting, and developmental delay in early childhood. Many are associated with central nervous system or other systemic manifestations and cause early mortality. We review the axonal Charcot-Marie-Tooth subtypes with onset in infancy, spinal muscular atrophy, and related syndromes of early infancy, giant axonal neuropathy, infantile neuroaxonal dystrophy, hereditary motor and sensory neuropathy with agenesis of the corpus callosum, early-onset neuropathies associated with mitochondrial disorders, and other less well-delineated clinical entities. Useful clinical and neuropathologic features in the diagnostic work-up of these conditions are also presented. PMID:22971091

Yiu, Eppie M; Ryan, Monique M

2012-09-01

407

A myofibroblastic tumor. Infantile digital fibroma (recurrent digital fibrous tumor of childhood).  

PubMed Central

Infantile digital fibromas are distinctive tumors both clinically and morphologically. A unique light microscopic features in the presence of intracytoplasmic, spherical, eosinophilic inclusion bodies. Previous electron microscopic studies have shown these bodies to consist of fibrils; bundles of fibrils have also been described in the cytoplasm. We have examined one such tumor, confirmed earlier findings, and established that the component cells are typical myofibroblasts. The latter are a variety of fibroblasts first described in granulation tissue; they are endowed with contractile properties and are characterized ultrastructurally by bundles of fibrils containing "dense bodies" such as are found in smooth muscle cells. Since our case is identical to those previously described, we propose that this tumor be called infantile digital myofibroblastoma. Images Figure 6 Figure 7 Figure 5 Figure 9 Figure 10 Figure 8 Figure 4 Figure 11 Figure 2 Figure 3 Figure 11 Figure 12 Figure 13 Figure 14 PMID:216266

Bhawan, J.; Bacchetta, C.; Joris, I.; Majno, G.

1979-01-01

408

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

PubMed

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

Natawidjaja, Ronald; Wang, Ewen

2014-01-01

409

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

PubMed

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

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

2014-01-22

410

Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms.  

PubMed

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

Olivetti, Pedro R; Noebels, Jeffrey L

2012-10-01

411

Clinical profile of vigabatrin as monotherapy for treatment of infantile spasms  

PubMed Central

Vigabatrin, the first therapeutic agent to be approved by the Food and Drug Administration for the treatment of infantile spasms, as well as for adjunctive use in the treatment of refractory complex partial epilepsy, represents an important advance for patients with difficult-to-manage epilepsy. This review summarizes the complex history, chemistry, and pharmacology, as well as the clinical data leading to the approval of vigabatrin for infantile spasms in the US. The long path to its approval reflects the visual system and white matter toxicity concerns with this agent. This review provides a brief description of these concerns, and the regulatory safety monitoring and mitigation systems that have been put in place to enhance benefit over risk. PMID:21127692

Lerner, Jason T; Salamon, Noriko; Sankar, Raman

2010-01-01

412

Expression of PLA2G6 in human fetal development: Implications for infantile neuroaxonal dystrophy  

Microsoft Academic Search

Mutations in PLA2G6, which encodes calcium-independent phospholipase A2 group VIA (iPLA2-VIA), underlie the autosomal recessive disorder infantile neuroaxonal dystrophy (INAD). INAD typically presents in the first year of life, and leads to optic atrophy and psychomotor regression. We have examined PLA2G6 expression in early human embryonic development by in situ hybridization. At Carnegie Stage (CS) 19 (approximately 7 post-conception weeks

Brenda Polster; Moira Crosier; Susan Lindsay; Susan Hayflick

2010-01-01

413

The calcitonin-CGRP gene in the infantile hypercalcaemia\\/Williams-Beuren syndrome  

Microsoft Academic Search

We have investigated 13 families, each of which have one member with infantile hypercalcaemia\\/Williams-Beuren syndrome (IHWBS), for either a germ cell mutation of, or an association with, the calcitonin-CGRP gene. Restriction fragment mapping studies of the calcitonin-CGRP gene using five restriction enzymes (TaqI, Bg\\/II, PvuII, PstI, and SacI) and region specific probes failed to show any abnormalities of this gene

G A Hitman; L Garde; W Daoud; G J Snodgrass

1989-01-01

414

Reassessment of elevated serotonin levels in blood platelets in early infantile autism  

Microsoft Academic Search

Blood platelet serotonin content was measured in 30 children with early infantile autism, as defined by Kanner, 30 age-matched normal subjects, and 45 children with various neurological and psychiatric disorders. Serotonin content in the autistic group was 980±357 ng\\/mg platelet protein (mean±standard deviation), a value significantly higher than that for normal children, 807±202 ng\\/mg (p .

Saburo Takahashi; Hideko Kanai; Yoshihiro Miyamoto

1976-01-01

415

The psoas muscle as cause of low back pain in infantile cerebral palsy  

Microsoft Academic Search

Psoas muscle spasticity is hypothesised as a rare cause of low back pain in patients with infantile cerebral palsy. The authors\\u000a describe a new manoeuvre for the study of psoas tenderness and ultrasound (US)-guided transabdominal botulinum toxin injection\\u000a technique. A possible causal relationship between psoas tension and low back pain was found incidentally in two examined cases.\\u000a In subsequent patients,

G. Marrè-Brunenghi; R. Camoriano; M. Valle; S. Boero

2008-01-01

416

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

Microsoft Academic Search

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

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

1996-01-01

417

Molecular analysis and test of linkage between the FMRI gene and infantile autism in multiplex families  

Microsoft Academic Search

Approximately 2%-5% of autistic children show cytogenetic evidence of the fragile X syndrome. This report tests whether infantile autism in multiplex autism families arises from an unusual manifestion of the fragile X syndrome. This could arise either by expansion of the (CGG)n trinucleotide repeat in FMR-1 or from a mutation elsewhere in the gene. We studied 35 families that met

J. Hallmayer; E. Pintado; L. Lotspeich; D. Spiker; H. C. Kraemer; D. Lee Wong; A. Lin; J. Herbert; L. L. Cavalli-Sforza; R. D. Ciaranello

1994-01-01

418

Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly.  

PubMed

Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder presenting with an elfin-like face, supravalvular aortic stenosis, a specific cognitive-behavioral profile, and infantile hypercalcemia. We encountered two WBS patients presenting with infantile spasms, which is extremely rare in WBS. Array comparative genomic hybridization (aCGH) and fluorescent in situ hybridization (FISH) analyses revealed atypical 5.7-Mb and 4.1-Mb deletions at 7q11.23 in the two patients, including the WBS critical region and expanding into the proximal side and the telomeric side, respectively. On the proximal side, AUTS2 and CALN1 may contribute to the phenotype. On the telomeric side, there are two candidate genes HIP1 and YWHAG. Because detailed information of them was unavailable, we investigated their functions using gene knockdowns of zebrafish. When zebrafish ywhag1 was knocked down, reduced brain size and increased diameter of the heart tube were observed, indicating that the infantile spasms and cardiomegaly seen in the patient with the telomeric deletion may be derived from haploinsufficiency of YWHAG. PMID:20146355

Komoike, Yuta; Fujii, Katsunori; Nishimura, Akira; Hiraki, Yoko; Hayashidani, Michiko; Shimojima, Keiko; Nishizawa, Tsutomu; Higashi, Kouji; Yasukawa, Kumi; Saitsu, Hirotomo; Miyake, Noriko; Mizuguchi, Takeshi; Matsumoto, Naomichi; Osawa, Makiko; Kohno, Yoichi; Higashinakagawa, Toru; Yamamoto, Toshiyuki

2010-04-01

419

Early miglustat therapy in infantile Niemann-Pick disease type C.  

PubMed

Niemann-Pick disease type C is a rare inherited cholesterol trafficking disorder, where impaired intracellular lipid transport leads to storage of unesterified cholesterol and glycosphingolipids in many tissues, including the brain. Substrate reduction therapy with miglustat, an iminosugar that inhibits glycosphingolipid synthesis, was proposed to treat Niemann-Pick disease type C, based on evidence of slower disease progression and prolonged survival in animal models. Miglustat was subsequently approved in Europe to treat progressive neurologic manifestations in both children and adults in early 2009, based on clinical study data. We report on the early treatment of two pediatric Niemann-Pick type C patients with miglustat. Patient 1, a 7.5-year-old girl with early-infantile onset, began receiving miglustat at age 7 months. Patient 2, the brother of a girl diagnosed with late-infantile onset Niemann-Pick type C, began receiving miglustat at age 19 months, when he was asymptomatic for neurologic disease. After 7 and 5 years of miglustat therapy, respectively, both patients remain free of neurologic manifestations. These findings suggest that miglustat may be more effective if used to prevent, rather than treat, neurologic manifestations in infantile-onset Niemann-Pick type C. PMID:22704015

Di Rocco, Maja; Dardis, Andrea; Madeo, Annalisa; Barone, Rita; Fiumara, Agata

2012-07-01

420

Virotherapy Against Malignant Glioma Stem Cells  

PubMed Central

Glioblastoma multiforme, the most common primary intracranial malignancy, is associated with very poor outcome despite advances in surgical techniques and chemo- and radiation therapy. Many novel treatment modalities are being investigated with varying amount of success. Evolution of cancer stem cell hypothesis provides a new venue for developmental therapeutics. In this review, we highlight the literature regarding the existence of glioma stem cells and their characteristics. We also discuss the potential for virotherapy, a novel therapeutic approach utilizing conditionally replicative viruses, to directly target this population of self-renewing cancer stem cells. PMID:19643532

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

2009-01-01

421

Transgenic mouse model of malignant skin melanoma.  

PubMed Central

Tyr-SV40E transgenic mice are specifically susceptible to melanoma due to expression of the oncogene in pigment cells. Mice of the more susceptible lines die young of early-onset eye melanomas, when skin melanomas are still infrequent and benign. To surmount this obstacle, skin from donors of two high-susceptibility lines was grafted to Tyr-SV40E hosts of a low-susceptibility line of the same inbred strain, thereby enabling the skin to outlive the donors and continue to grow in immunocompetent but tolerant hosts. Unexpectedly, donor pigment cells in all the grafts soon selectively proliferated close to areas of greatest wound healing, forming a dense black tracery, especially at the outer rim of the grafts. These lesions slowly grew radially within the grafts, producing irregular greyish patches. Local vertical thickenings then appeared and developed into small melanomas, which soon ulcerated through the epidermis. The tumors rapidly enlarged and became deeply invasive. Discrete black nevi also arose, with many becoming larger and distinctly blue, but those not near areas of pronounced wound healing did not progress to malignancy. In this first series, malignant melanoma resulted in all the grafts from the more susceptible of two donor lines and in some grafts from the other line. Distant metastases occurred in some cases from each line. Most tumors were hypomelanotic and heterogeneous, with lobes or areas differing in melanization. The results strongly suggest that growth factors and cytokines--known to be produced in wound repair--are triggering the growth and malignant conversion of these genetically susceptible melanocytes and that in the graft situation we are merely witnessing a caricature--a usefully exaggerated manifestation of the true events underlying the genesis of melanomas. The striking resemblance to the human malignancy, the genetic uniformity and different susceptibilities of the transgenic lines, and the experimental possibilities in the grafted mice all make them an excellent model of the disease. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 PMID:8415613

Mintz, B; Silvers, W K

1993-01-01

422

Researchers discover new mutations driving malignant melanoma  

Cancer.gov

Two new mutations that collectively occur in 71 percent of malignant melanoma tumors have been discovered in what scientists call the "dark matter" of the cancer genome, where cancer-related mutations haven't been previously found. Reporting their findings in the Jan. 24 issue of Science Express, the researchers from Dana-Farber Cancer Institute and the Broad Institute said the highly "recurrent" mutations – occurring in the tumors of many people – may be the most common mutations in melanoma cells found to date.

423

Amelanotic malignant melanoma of the cervical oesophagus.  

PubMed

We report the case of a young woman who presented with progressive dysphagia and swelling in the anterior aspect of the neck of short duration. On evaluation, she was diagnosed with amelanotic malignant melanoma of the cervical oesophagus. She underwent total laryngopharyngo-oesophagectomy with gastric transposition with bilateral modified radical neck dissection with feeding jejunostomy and a permanent tracheostomy with postoperative combined chemoradiation therapy. However, in spite of aggressive treatment, the patient expired 8 months after initial presentation with distant metastasis. PMID:24729119

Ramaswamy, Balakrishnan; Bhandarkar, Ajay M; Venkitachalam, Shruti; Trivedi, Shivangi

2014-01-01

424

Primary malignant melanoma of the esophagus.  

PubMed

Primary malignant melanoma of the esophagus, first recognized as a primary tumor by de la Pava et al. in 1963, is rare. It usually presents as an aggressive polypoidal darkly colored or non-pigmented tumor in the mid to lower esophagus which may be diagnosed preoperatively by the use of immunohistochemical stains such as HMB-45 (melanoma specific antigen). The treatment of choice is surgical resection however the overall prognosis is poor with only 4 per cent of patients surviving 5 years. PMID:8799387

Craig, S R; Wallace, W H; Ramesar, K C; Cameron, E W

1996-01-01

425

Toward automated detection of malignant melanoma  

NASA Astrophysics Data System (ADS)

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 of the dermal papillae. For detection of MM, these features must be identified qualitatively by the clinician and qualitatively through automated pattern recognition. A machine vision algorithm was developed for automated detection. The algorithm detected pagetoid melanocytes and breakdown of the dermal/epidermal junction in a pre-selected set of five MMs and five benign nevi for correct diagnosis.

Huang, Billy; Gareau, Daniel S.

2009-02-01

426

Tyrosine kinase gene rearrangements in epithelial malignancies  

PubMed Central

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

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

2014-01-01

427

Homoharringtonine and omacetaxine for myeloid hematological malignancies  

PubMed Central

Homoharringtonine (HHT), a plant alkaloid with antitumor properties originally identified nearly 40 years ago, has a unique mechanism of action by preventing the initial elongation step of protein synthesis. HHT has been used widely in China for the treatment of chronic myeloid leukemia (CML), acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). Omacetaxine, a semisynthetic form of HHT, with excellent bioavailability by the subcutaneous route, has recently been approved by FDA of the United States for the treatment of CML refractory to tyrosine kinase inhibitors. This review summarized preclinical and clinical development of HHT and omacetaxine for myeloid hematological malignancies. PMID:24387717

2014-01-01

428

Molecular targeting in childhood malignancies using nanoparticles  

NASA Astrophysics Data System (ADS)

The goal of our project is to develop a new therapy for childhood malignancies using nanoformulated siRNA targeting Mxd3, a molecule in the Sonic Hedgehog signaling pathway, which we believe is important for cell survival. We plan to use cancer-specific ligands and superparamagnetic iron oxide nanoparticles (SPIO NPs) to carry siRNA. This delivery system will be tested in mouse xenograft models that we developed with primary cancer tissues. Our current focus is acute lymphoblastic leukemia (ALL), the most common cancer in children. We report our progress to date.

Satake, Noriko; Barisone, Gustavo; Diaz, Elva; Nitin, Nitin; Nolta, Jan; Lam, Kit

2012-06-01

429

Hysterectomy for the treatment of gynecologic malignancy.  

PubMed

The current literature shows that minimally invasive hysterectomy for cancer is relatively safe and provides benefits in terms of blood loss and length of stay with less or equal complication rates over laparotomy. These benefits may even be greater in the morbidly obese and those with other comorbidities. Available techniques include laparotomy, laparoscopy, single-site laparoscopy, robotics, and single-site robotics. Collection of comprehensive and reliable data on complications and outcomes will prove to be the key in defining the role of new techniques in the treatment of women with gynecologic malignancies. PMID:24488054

Backes, Floor J; Fowler, Jeffrey M

2014-03-01

430

Malignant lymphoma reference centres: GDR, Hungary and Poland, 1979.  

PubMed

In the present paper, the more important data on malignant lymphoma cases seen by the Malignant Lymphoma Reference Centres of the GDR, Hungary and Poland in 1979 are summarized. Altogether 655 new malignant lymphomas were diagnosed pathohistologically, 141 of them (21.5%) representing Hodgkin's disease and 514 (78.5%) non-Hodgkin's malignant lymphomas. Besides, 16 cases of malignant histiocytosis were recorded in the three Centres. The ratio of Hodgkin's disease to non-Hodgkin's malignant lymphoma (see above) and that of low-grade to high-grade tumours (68.5% vs 31.5%) were similar in the three Centres. Ways of further development of the collaboration of the Centres and the measures necessary to increase the comparability of the accumulated material are discussed. PMID:7269826

Kelényi, G; Mioduszewska, O; Rüdiger, K D

1981-01-01

431

A Solitary Malignant Schwannoma in the Choana and Nasal Septum  

PubMed Central

Malignant schwannoma is an extremely rare tumor and the risk of malignant schwannoma increases in patients with von Recklinghausen's disease. Recently, we encountered a case of solitary malignant schwannoma in the choana and posterior nasal septum. Malignant schwannoma has not been previously reported in these locations. A 53-year-old man, who was immunologically healthy and showed no abnormal dermatological lesions, presented with a polypoid mass in the right nasal cavity and underwent endoscopic mass excision. The mass originated from the choana and the posterior portion of the right nasal septum. This mass was confirmed as a malignant schwannoma on histological examination and immunohistochemical staining. After endoscopic excision, postoperative adjuvant radiotherapy was administered, and there was no recurrence at 1 year after treatment. This case suggests that a solitary malignant schwannoma should be considered in the differential diagnosis of a mass in the posterior nasal cavity.

Song, Kee Jae; Seo, Yeon Suk; Kim, Kyung-Su

2014-01-01

432

Urban Malignancy: Similarity in the Fractal Dimensions of Urban Morphology and Malignant Neoplasms  

Microsoft Academic Search

All contemporary landscapes on the planet feature the aggressive growth of cities and other urbanizations. In 1990, we suggested that the similarity between urban forms and malignant lesions could be studied with the use of fractal geometry. Two separate disciplines have emerged since then: the study of urban morphology using various fractal analyses, and \\

Warren M. Hern

2008-01-01

433

A-Z of malignant peripheral nerve sheath tumors  

PubMed Central

Abstract This article reviews the typical and atypical locations, imaging findings, local recurrence, and metastatic pattern of malignant peripheral nerve sheath tumors (MPNSTs). MPNSTs are rare soft tissue sarcomas, commonly occur in extremities, and are often associated with neurofibromatosis. Distinction between benign and malignant tumors can be challenging on imaging. MPNSTs have a poor prognosis; however, rhabdomyoblastic differentiation (malignant triton tumor), which has imaging features similar to MPNSTs, is associated with even more aggressive behavior. PMID:23108260

Kamran, S.C.; Howard, S.A.; Hornick, J.L.; Ramaiya, N.H.

2012-01-01

434

Recurrences from malignant parotid salivary gland tumors.  

PubMed

The clinical course of 130 patients treated for malignant parotid tumors at the three institutions have been reviewed. Fifty-six of these 130 patients developed recurrences following their primary treatment by a surgical procedure. There were a total of 109 recurrences among these 56 patients. The average number of recurrences was two per patient. The average survival from first recurrence was 3.7 years, with the median survival 2 years. The range of survival was 0.5 to 17 years. Once recurrence developed, treatment was by surgery, radiation therapy, chemotherapy, or a combination. Of 56 patients with recurrence, 33 are dead and 9 patients are alive with disease. Fourteen patients are alive and well with no evidence of disease. These NED patients had an average number of 1.6 recurrences and a median survival to date of only 3 years. Our study indicates that for the majority of patients who develop recurrence, survival is relatively short and treatment is usually ineffective in three of four patients. The authors conclude that after a surgical procedure for malignant salivary gland tumors, a trial of wide field postoperative radiation therapy to high dose should be considered as part of the initial treatment. PMID:949679

Kagan, A R; Nussbaum, H; Handler, S; Shapiro, R; Gilbert, H A; Jacobs, M; Miles, J W; Chan, P Y; Calcaterra, T

1976-06-01

435

A large retroperitoneal malignant solitary fibrous tumor.  

PubMed

Abstract We report on a large, retroperitoneal, malignant, solitary fibrous tumor (SFT) with high proliferation activity. A 43-year-old man was admitted to our department complaining of a palpable mass. Computed tomography (CT) and magnetic resonance imaging (MRI) revealed a large retroperitoneal tumor occupying the entire abdominal cavity. A laparotomy was performed for diagnosis and treatment, which revealed a tumor in the retroperitoneum but with no invasion to the surrounding organs, thereby allowing safe macroscopic excision. Histologically, the tumor was composed of spindle-shaped cells with patternless pattern and a hemangiopericytomatous appearance. Moreover, immunohistochemical staining was positive for CD34, vimentin, Bcl-2, and CD99 and negative for desmin, S-100p, and smooth muscle actin (AMA). The tumor exhibited high cellularity, moderate mitotic activity, pleomorphism, necrosis, and hemorrhagic changes. In addition, the Ki-67 labeling index was 37%. These findings confirmed the diagnosis of malignant SFT with high proliferation activity. Subsequently, adjuvant doxorubicin plus ifosfamide chemotherapy was performed. No signs of recurrence were observed 12 months after the surgery. PMID:25058776

Yoh, Tomoaki; Sata, Ritsuko; Kobayashi, Atsushi; Wada, Seidai; Nakamura, Yuya; Kato, Tatsushi; Nakayama, Hiroyuki; Okamura, Ryuji

2014-01-01

436

Membrane defect in procine malignant hyperthermia  

SciTech Connect

Malignant hyperthermia (MH) has been proposed to result from abnormal calcium-homeostasis in skeletal muscle. This study tested the hypothesis that calcium-sequestration or calcium-release by sarcoplasmic reticulum was abnormal in MH-susceptible swine. A heavy sarcoplasmic reticulum fraction (HSR), enriched in terminal cisternae, was isolated from MH and control muscle using differential and density-gradient centrifugation. Calcium transport was studied using /sup 45/Ca radioisotope and Millipore filtration. Enzymatic activities, cholesterol, phospholipid, and protein composition were determined using spectrophotometric techniques and polyacrylamide gel electrophoresis. Properties of calcium-sequestration by MH and control HSR were indistinguishable, although Ca/sup 2 +/-ATPase and calsequestrin content were 100% increased in MH HSR. However when muscle homogenate pH was decreased due to MH, calcium-uptake activity was depressed to <5% of control values. Results of this study indicate a model for the etiopathogenesis of MH, and for the inheritance and diagnosis of susceptibility to MH. Malignant hyperthermia is initiated due to a hypersensitive HSR calcium-release mechanism and propagated by a loss of calcium-sequestering function as acidosis develops. Susceptibility is inherited in an autosomal, codominant pattern and may be diagnosed most definitively and sensitively on the basis of calcium-release sensitivity-tests, performed on isolated HSR.

O'Brien, P.J.

1985-01-01

437

Intermittent everolimus administration for malignant insulinoma  

PubMed Central

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?

Brizzi, Maria Pia; Tampellini, Marco; Scagliotti, Giorgio Vittorio; Priola, Adriano; Terzolo, Massimo; Pia, Anna; Berruti, Alfredo

2014-01-01

438

Interstitial therapy of perineal and gynecological malignancies  

SciTech Connect

Thirty-five patients, 38 to 88 years of age, were treated with 125-Iodine or 192-Iridium interstitial implants at Stanford University Medical Center between July 1974, and December, 1978. There were 25 primary epithelial malignancies, eight extensions from intrapelvic organs and two metastatic tumors (hypernephroma and Hodgkin's disease). The involved sites were: urethra (6 patients); vulva (9 patients); vagina (8 patients); anus (7 patients); cervix (5 patients). Implantation was usually performed to treat evident or microscopic disease in conjunction with external beam pelvic treatment with or without local excision. Computerized implant preplanning was used.125-Iodine seeds were inserted either directly or within absorbable suture Polyglactin 910; 192-Iridium in nylon carriers was placed by suture or transperineal template. Two patients were lost to follow-up leaving 33 patients, 27 of whom are alive and free of local disease from 37 to 76 months. The overall local control rate was 88%, or 29/33 patients. All four local recurrences appeared before 24 months. Minor complications included: 10 patients with transient mucositis, four with superficial ulcers, and one patient with infection at the implanted site. Two major complications occurred: a necrotic rectal ulcer requiring a colostomy and a contracted, painful bladder necessitating a urinary diversion. It is concluded that in selected cases interstitial irradiation provides good local control of perineal and gynecological malignancies with low morbidity in this elderly and quite often fragile group of patients.

Martinez, A.; Herstein, P.; Portnuff, J.

1983-03-01

439

Metallic stents in malignant biliary obstruction  

SciTech Connect

Purpose. Retrospective analysis of our results with metallic stent placement for malignant biliary strictures. We sought to determine parameters that influence stent patency. Methods. A total of 95 Wallstents were implanted in 65 patients (38 men, 27 women; mean age, 65.1 years) with malignant biliary obstruction. Serum bilirubin levels were assessed in 48 patients; the mean value prior to intervention was 15.0 mg/dl. Results. In 12 patients (21%) complications occurred as a result of percutaneous transhepatic drainage. Stent implantation was complicated in 13 patients, but was possible in all patients. A significant decrease in bilirubin level was seen in 83.3% of patients following stent implantation. Approximately 30% of patients developed recurrent jaundice after a mean 97.1 days. In 9 patients (15%) the recurrent jaundice was caused by stent occlusion due to tumor growth. The mean follow-up was 141.8 days, the mean survival 118.7 days. Patients with cholangiocarcinomas and gallbladder carcinomas had the best results. Worse results were seen in patients with pancreatic tumors and with lymph node metastases of colon and gastric cancers. Conclusions. The main predictive factors for occlusion rate and survival are the type of primary tumor, tumor stage, the decrease in bilirubin level, and the general condition of the patient.

Rieber, Andrea; Brambs, Hans-Juergen [University of Ulm, Department of Diagnostic Radiology (Germany)

1997-01-15

440

Occult donor malignancy in pancreas transplantation.  

PubMed

Tumor of the pancreas allograft is extremely rare. We report a case of an occult donor malignant undifferentiated tumor arising in a pancreas allograft. A 42-year-old female with Type 1 diabetes received a macroscopically normal pancreas allograft. The donor was a 22-year-old male who died of spontaneous intracerebral hemorrhage. She underwent transplant pancreatectomy, the histology of the pancreas allograft demonstrated a tumor measuring 5 mm in diameter, and a diagnosis of malignant undifferentiated tumor was made. In a different transplant center, the recipient of the left kidney transplant from the same donor had a nephrectomy, and the recipient of the liver transplant died of metastatic disease. Microscopic examination of the liver and kidney allografts subsequently revealed histological features identical to the pancreas tumor. Tumor transmission in transplantation may occur from an organ that contains metastatic cells or, less commonly, from the transmission of an unrecognized or occult primary tumor. A report from the United Network for Organs Sharing transplant data 1997-2002 is illustrated and discussed. This case illustrates the difficulties associated with identifying donors with occult primary tumor or metastases. PMID:17365945

Wong, Christopher; Hold, Phoebe; Mohteshamzadeh, Mobin; Dhanda, Raman; Sells, Robert

2007-01-01

441

MicroRNAs in Human Malignant Gliomas  

PubMed Central

MicroRNA (miRNA) is a new class of small noncoding RNA molecules that regulate a wide spectrum of gene expression in a posttranscriptional manner. MiRNAs play crucial roles in tumorigenesis, angiogenesis, invasion, and apoptosis for various types of tumor. Recent studies have identified dysregulation of specific miRNAs in malignant gliomas. Global expression profiling of miRNAs has revealed several miRNAs clinically implicated in human glioblastomas. Some miRNAs are clearly associated with clinical outcome and chemo- and radio-therapy resistance in these tumors. Furthermore, miRNAs also regulate specific signaling pathways, including the critical core pathways in glioblastoma. As a result, miRNAs have the potential to affect the responses to molecular-targeted therapies. More recent studies have revealed that miRNAs might be associated with cancer stem cell properties, affecting tumor maintenance and progression. Recent investigation have revealed that miRNAs are not only biological markers with diagnostic implications, but also one of the most promising treatment targets in human glioblastoma. Herein, we summarized the novel insights of miRNAs into human malignant gliomas. PMID:22848219

Mizoguchi, Masahiro; Guan, Yanlei; Yoshimoto, Koji; Hata, Nobuhiro; Amano, Toshiyuki; Nakamizo, Akira; Sasaki, Tomio

2012-01-01

442

New sources of drugs for hematologic malignancies  

PubMed Central

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

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

2011-01-01

443

Pancreatic paracoccidioidomycosis simulating malignant neoplasia: Case report  

PubMed Central

Paracoccidioidomycosis is a systemic granulomatous disease caused by fungus, and must be considered in the differential diagnosis of intra-abdominal tumors in endemic areas. We report a rare case of paracoccidioidomycosis in the pancreas. A 45-year-old man was referred to our institution with a 2-mo history of epigastric abdominal pain that was not diet-related, with night sweating, inappetence, weight loss, jaundice, pruritus, choluria, and acholic feces, without signs of sepsis or palpable tumors. Abdominal ultrasonography (US) showed a solid mass of approximately 7 cm × 5.5 cm on the pancreas head. Abdominal computerized tomography showed dilation of the biliary tract, an enlarged pancreas (up to 4.5 in the head region), with dilation of the major pancreatic duct. The patient underwent exploratory laparotomy, and the surgical description consisted of a tumor, measuring 7 to 8 cm with a poorly-defined margin, adhering to posterior planes and mesenteric vessels, showing an enlarged bile duct. External drainage of the biliary tract, Roux-en-Y gastroenteroanastomosis, lymph node excision, and biopsies were performed, but malignant neoplasia was not found. Microscopic analysis showed chronic pancreatitis and a granulomatous chronic inflammatory process in the choledochal lymph node. Acid-alcohol resistant bacillus and fungus screening were negative. Fine-needle aspiration of the pancreas was performed under US guidance. The smear was compatible with infection by Paracoccidioides brasiliensis. We report a rare case of paracoccidioidomycosis simulating a malignant neoplasia in the pancreas head. PMID:24039371

Lima, Talles Bazeia; Domingues, Maria Aparecida Custódio; Caramori, Carlos Antonio; Silva, Giovanni Faria; de Oliveira, Cássio Vieira; Yamashiro, Fábio da Silva; Franzoni, Letícia de Campos; Sassaki, Lígia Yukie; Romeiro, Fernando Gomes

2013-01-01

444

Malignant melanoma masqueraded as ingrown toe nail.  

PubMed

We report a case in a 62-year-old female who presented with a year history of dull aching pain of the left big toe, which was aggravated by pressure on the nail and relieved by analgesia. Tissue biopsy confirmed the diagnosis of malignant melanoma. There was a black colour swelling about 3x8 mm in size over the medial side of the dorsum of left big toe with a scar of previous operation. Histopathological examination showed on gross section of 2 blackish area one infiltrate the bone the other the tumour not infiltrate the proximal interphalangial joint with another satellite lesion 20mm from main tumour area was found. Malignant cells were large with abundant cytoplasm, hyperchromatic nuclei and some prominent eosinophilic nucleoli. Melanin pigment was markedly seen. The big toe was amputated. We here highlight a case where the patient was diagnosed and managed as having ingrown nail of the left big toe while in actual fact she had a subungual amelanotic melanoma. PMID:24589950

Adnan, A; Bajuri, M Y; Shukur, M H; Subanesh, S; Das, S

2014-01-01

445

Malignant gastrointestinal stromal tumor of the gallbladder.  

PubMed

Gastrointestinal stromal tumors (GISTs) of the gallbladder are representative of an extremely rare group of tumors. We have encountered a patient with a malignant GIST of the gallbladder and presented it with a review of some articles. A 72-yr-old woman initially presented with right upper quadrant abdominal pain, fever and chills. Emergency cholecystectomy was performed under the impression of gallbladder empyema. Liver metastasis was found at 7 months postoperatively and the patient expired 9 months after the surgery. At the time of cholecystectomy, the gallbladder showed a necrotic serosal surface with an irregular thickened wall. A mass, 6 cm in length and 3 cm in width, encircled the whole wall of the neck and upper body of the gallbladder. Microscopic findings revealed frequent mitotic figures (more than 20/50 HPF) and tumor necrosis. Hyperchromatic, pleomorphic and spindle shaped neoplastic cells that were arranged in a pattern of short fascicles infiltrated the entire layer of the gallbladder. The tumor cells were immunoreactive for CD117 antigen (c-kit protein) and vimentin. They were negative for desmin, smooth muscle actin and S-100 protein. Mutations of the c-kit proto-oncogene were not found in this case. These findings were sufficient to provide enough clinical, histopathological and immunohistochemical evidence in diagnosing our case as a malignant GIST. PMID:15483360

Park, Jong Kyung; Choi, Seung Hye; Lee, Seong; Min, Ki Ouk; Yun, Sang Seob; Jeon, Hae Myung

2004-10-01

446

Palliative treatment for symptomatic malignant pericardial effusion†.  

PubMed

Consensus has yet to emerge regarding the optimal choice of therapy in the management of malignant pericardial effusion. We review the literature to evaluate the existing evidence on the clinical effectiveness of surgical and interventional cardiological approaches. A formal literature search for all studies addressing the treatment of pericardial effusion in cancer patients was undertaken using predefined keywords. Abstracts were screened and reviewed, and data extracted. Data on intervention type, number of patients treated, number of patients surviving the procedure, effusion recurrences, need for further interventions and procedure-related complications were obtained from each study and collated in a quantitative synthesis. Of 1181 articles identified, 59 contained sufficient quantitative information to be included in the synthesis. A total of 2322 patients with symptomatic pericardial effusion were identified, of which 1399 patients were reported to have underlying malignancy. Three surgical approaches were described in a total of 19 studies, with overall success rates ranging from 93.3 to 100% and associated complication rates ranging from 4.5 to 10.3%. The remaining 40 studies reported four non-surgical treatment modalities, with success rates of 55.1-90.4% and complication rates of 5.9-32%. Data from the literature suggest that surgical drainage of the pericardium is superior to non-surgical approaches for symptom relief, effusion recurrence and morbidity; however, the lack of randomized controlled trials means that selection bias remains an important limitation to the field and definitive adequately controlled trials should be a priority. PMID:25142067

Jama, Guled M; Scarci, Marco; Bowden, Jack; Marciniak, Stefan J

2014-12-01

447

Gynaecological Malignancies from Palliative Care Perspective  

PubMed Central

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

Mishra, Kamlesh

2011-01-01

448

Bridging the gap in hematological malignancies.  

PubMed

After the success of the BTG Series in Singapore in 2010 and 2011, meeting organizers held the 3rd International Hematologic Malignancies Conference in Hong Kong. Held on 23-25 February, the BTG meeting provided an opportunity to further scientific discourse in the Asia-Pacific region. Featuring the world-renowned medical faculty and an abundance of discussion forums, the conference provided attendees the opportunity to interact with field leaders and exposed them to the latest research. The BTG conferences focus on hematologic malignancies, especially leukemia, lymphoma and myeloma. The BTG series provides an exceptional platform for the exchange of ideas for the Asia-Pacific hematology oncology healthcare community. It offers many novel opportunities for practicing physicians as well as fellows in training to meet with the world thought leaders. The annual conference brings together key opinion leaders from the Asia-Pacific region, the USA and Europe. The underlying motto is to bring the continents together and generate a global community in the quest against cancer. BTG recognizes the contributions of the Asia-Pacific physicians who are among the world leaders and gives the younger generation opportunities to present their work in a world arena. PMID:22780206

Parmar, Simrit; Iyer, Swami Padmanabhan

2012-06-01

449

Fludarabine Based Conditioning for Allogeneic Transplantation for Advanced Hematologic Malignancies  

ClinicalTrials.gov

Acute Myeloid Leukemia; Acute Leukemia; Chronic Myelogenous Leukemia; Malignant Lymphoma; Hodgkin's Disease; Multiple Myeloma; Lymphocytic Leukemia; Myeloproliferative Disorder; Polycythemia Vera; Myelofibrosis; Aplastic Anemia

2014-03-27

450

Malignancy-related mortality following kidney transplantation is common.  

PubMed

There is a paucity of studies describing malignancy-related mortality after kidney transplantation. To help quantify this, we extracted data for all kidney-alone transplant procedures performed in England between April 2001 and March 2012. Data linkage analysis was performed between Hospital Episode Statistics and the Office for National Statistics to identify all deaths occurring in this cohort. Among 19,103 kidney transplant procedures analyzed (median follow-up 4.4 years), 2085 deaths occurred, of which 376 (18.0%) were due to malignancy (crude mortality rate 361 malignancy-related deaths per 100,000 person-years). Common sites of malignancy-related death were lymphoma (18.4%), followed by lung (17.6%) and renal (9.8%), with 14.1% unspecified. The risk of malignancy-related death increased with age: under 50 (0.8%), 50-59 (2.5%), 60-69 (4.8%), 70-79 (6.5%) and over 80 years (9.1%). Age- and gender-stratified malignancy-related mortality risk difference was higher in the transplant compared with the general population. Cox proportional hazard models identified increased age, pretransplant history of malignancy and deceased-donor kidney transplantation to be independently associated with risk for post-transplant death from malignancy. Thus, malignancy as a cause of post-kidney transplantation death is common and requires heightened surveillance. PMID:24257690

Farrugia, Daniela; Mahboob, Sophia; Cheshire, James; Begaj, Irena; Khosla, Sajan; Ray, Daniel; Sharif, Adnan

2014-06-01

451

Dermatomyositis associated with malignancy: A report of 3 cases  

PubMed Central

The association between dermatomyositis (DMS) and various types of malignancies has been reported in several studies, with an estimated frequency of 20-25%. DMS may precede, accompany or follow the diagnosis of malignancy. In the present report, we have discussed three cases of dermatomyositis associated with malignancy. In the first case, DMS preceded the diagnosis of gastric adenocarcinoma while in the second and third cases, it followed the diagnosis of ductal carcinoma of the breast and transitional cell carcinoma of the bladder respectively. In all three patients, cutaneous and musculoskeletal features of DMS showed very good response to the treatment, irrespective of the course of malignancy. PMID:24350018

Tambe, Swagata A.; Jerajani, Hemangi R.

2013-01-01

452

Dermatomyositis associated with malignancy: A report of 3 cases.  

PubMed

The association between dermatomyositis (DMS) and various types of malignancies has been reported in several studies, with an estimated frequency of 20-25%. DMS may precede, accompany or follow the diagnosis of malignancy. In the present report, we have discussed three cases of dermatomyositis associated with malignancy. In the first case, DMS preceded the diagnosis of gastric adenocarcinoma while in the second and third cases, it followed the diagnosis of ductal carcinoma of the breast and transitional cell carcinoma of the bladder respectively. In all three patients, cutaneous and musculoskeletal features of DMS showed very good response to the treatment, irrespective of the course of malignancy. PMID:24350018

Tambe, Swagata A; Jerajani, Hemangi R

2013-10-01

453

Malignancy in routine tonsillectomy specimens: a systematic literature review.  

PubMed

The aim of this systematic literature review was to investigate the prevalence of unsuspected tonsillar malignancy in routine tonsillectomy specimens and to discuss whether histological examination is indicated in tonsillectomy specimens from patients without well-defined risk factors. PRISMA 2009 guidelines were considered and applied whenever possible. Articles on prevalence of unsuspected tonsillar malignancy in routine tonsillectomy specimens were selected. Unsuspected tonsillar malignancy was defined as a malignant histological diagnosis after routine tonsillectomy without the presence of the following risk factors: tonsillar asymmetry, visible lesion, tonsillar firmness, cervical adenopathy, unexpected weight loss and constitutional symptoms, history of malignancy, previous radiotherapy, or immunodeficiency. We identified 37 articles comprising 72,322 patients. A total of 11 patients (0.015 %) had unsuspected malignancy. Considering the adult population only, 12 studies including 6,434 patients were identified. Three patients (0.05 %) had unsuspected malignancy. Regarding paediatric data, 21 studies including 21,223 children were identified. Three children (0.01 %) had unsuspected malignancy. The rarity of unsuspected malignancy in clinically benign tonsils fails to provide adequate justification for routine histological examination. National guidelines or statements by ENT societies are warranted. PMID:24481924

Rokkjaer, Malene Sine; Klug, Tejs Ehlers

2014-11-01

454

Deletion of 7q11.21-q11.23 and infantile spasms without deletion of MAGI2.  

PubMed

We report on the clinical and cytogenetic findings and on the array-based characterization of an interstitial 7q11.21-q11.23 deletion initially recognized by standard karyotyping in a 15-month-old female patient. Beginning at the age of 3 months and 2 weeks the patient had severe infantile spasms. Recently, it was reported that infantile spasms are associated with deletion of the MAGI2 gene on chromosome 7q11.23. Nevertheless, not all patients reported with deletions of MAGI2 developed infantile spasms and at least one reported patient with a deletion 7q11.23 without missing the MAGI2 gene was diagnosed with infantile spasms. Molecular karyotyping of our patient confirmed a large 13 Mb deletion encompassing the 7q11.21-q11.23 region without involvement of MAGI2. Critical review of published data and the results of our patient underline the importance to map precisely the deletion boundaries of further patients to reevaluate the significance of MAGI2 hemizygosity in the pathogenesis of infantile spasms. PMID:20101691

Röthlisberger, Benno; Hoigné, Irène; Huber, Andreas R; Brunschwiler, Wolfgang; Capone Mori, Andrea

2010-02-01

455

Summary of worldwide pediatric malignancies reported after exposure to etanercept  

PubMed Central

Background Concerns have been raised about a potential link between the use of TNF inhibitors and development of malignancy in the pediatric population. We examined the worldwide experience of etanercept use in pediatric patients and the occurrence of malignancies as reported from clinical trials, registry studies, post-marketing surveillance, and published scientific literature. Methods All reports of "malignancy" in pediatric patients (including subjects who received etanercept before age 18 and developed a malignancy before age 22) were collected from the etanercept clinical trials database and global safety database using the Medical Dictionary for Regulatory Activities (MedDRA; v12.0) standardized MedDRA query "Malignancies" from 1998 to August 2009. Cases were collected irrespective of treatment indication. All cases were included regardless of exposure to other TNF blockers or other biologics and whether the other exposure was before or after etanercept. Results A total of 18 potential malignancies were identified: 4 leukemias, 7 lymphomas, and 7 solid tumors. Three of the 18 malignancies remain unconfirmed. No malignancies were reported from clinical trials or the open-label extension studies in any indication in children. Conclusion The data suggest that there does not appear to be an increased risk of malignancy overall with the use of etanercept. Among etanercept-exposed patients aged 4 to 17 years, the estimated worldwide and US reporting rates for lymphoma were approximately 0.01 per 100 patient-years (1 in 10,000 pt-yrs). While the reported rate of lymphoma is higher in pediatric patients treated with etanercept than in normal children, the expected rate of lymphoma in biologic naïve JIA patients is currently unknown. The risk of TNF inhibitors in the development of malignancies in children and adolescents is difficult to assess because of the rarity of malignant events, the absence of knowledge of underlying frequency of leukemia and lymphoma in JIA, and the confounding use of concomitant immunosuppressive medications. PMID:20546618

2010-01-01

456

Adult Ocular Toxocariasis Mimicking Ciliary Body Malignancy  

PubMed Central

Purpose. To discuss an unusual presentation of ocular toxocariasis. Methods. Case report. Results. A 40-year-old woman presented with decreased vision in the left eye with a long history of recurrent red eye from uveitis. Eosinophilia and positive ELISA titers for Toxocara canis favored the diagnosis of ocular toxocariasis. Over 3 months, an anterior scleral mass had a rapid growth raising the possibility of medulloepithelioma, which rarely can mimic uveitic syndromes. Surgical plan changed from local excision to enucleation. Histopathology demonstrated a large homogeneous mass of chronic inflammatory cells with inflammation of the overlying thinned out sclera, medial rectus insertion, and limbal cornea. The triad of peripheral granuloma, eosinophilia, and positive blood serology established the diagnosis of ocular toxocariasis. Conclusions. Ocular toxocariasis can mimic ocular malignancy such as medulloepithelioma in adults and rarely presents as an anterior scleral mass. PMID:25371681

Mansour, Ahmad M.; Abiad, Bachir; Boulos, Fouad I.; Alameddine, Ramzi; Maalouf, Fadi C.; Bu Ghannam, Alaa; Hamam, Rola N.

2014-01-01

457

Impact of Interleukin-6 in Hematological Malignancies  

PubMed Central

Summary Almost 3 decades have passed since the discovery and cloning of IL-6, and a tremendous amount of work has contributed to the current knowledge of the biological functions of this cytokine, its receptor, and the signaling pathways that are activated. The understanding of the role of IL-6 in human disease has led to the development of novel therapeutic strategies that block the biological functions of IL-6. In clinical studies, IL-6 and IL-6 receptor antibodies have proven efficacy in rheumatoid arthritis, systemic juvenile idiopathic arthritis, and Castleman's disease, conditions that are known to be driven by IL-6. The focus of this overview is the role of IL-6 in the pathophysiology of hematological malignancies. PMID:24273487

Burger, Renate

2013-01-01

458

Worldwide Increasing Incidences of Cutaneous Malignant Melanoma  

PubMed Central

The incidence of cutaneous malignant melanoma (CMM) has been increasing at a steady rate in fair-skinned populations around the world for decades. Scientists are not certain why CMM has been steadily increasing, but strong, intermittent UVB (290–320?nm) exposures, especially sunburn episodes, probably initiate, CMM, while UVA (321–400?nm) passing through glass windows in offices and cars probably promotes it. The CMM incidence may be increasing at an exponential rate around the world, but it definitely decreases with increasing latitude up to ~50°N where it reverses and increases with the increasing latitude. The inversion in the incidence of CMM may occur because there is more UVA relative to UVB for most of the year at higher latitudes. If windows, allowing UVA to enter our indoor-working environment and cars, are at least partly responsible for the increasing incidence of CMM, then UV filters can be applied to reduce the rate of increase worldwide. PMID:22007306

Godar, Dianne E.

2011-01-01

459

Lungs: victim of synchronous double malignancies.  

PubMed

A 20 year young man was referred to our institution with superior vena cava (SVC) syndrome, multiple lung opacities and a mass lesion in the right upper zone (RUZ). CT-guided FNAC from the mass lesion was consistent with the diagnosis of non-small cell lung carcinoma (NSCLC). A lump in his left testis was detected during clinical examination. Both FNAC and excisional biopsy of the testicular mass confirmed the diagnosis of immature teratoma with choriocarcinoma, a form of non-seminomatous germ cell tumour (NSGCT). With chemotherapy all metastatic lesions of lung and SVC syndrome disappeared, and the tumour-marker levels decreased. However, the opacity in RUZ progessed to involve right recurrent laryngeal nerve at thoracic inlet, metastasized to the brain, and the patient expired after 4th cycle of chemotherapy. This case of synchronous double primary malignancies (SDPM) is being reported for its rarity. PMID:17598338

Sarkar, Supriya; Kundu, A K; Chakrabarti, Sudipta

2007-03-01

460

Measles in children who have malignant disease.  

PubMed Central

A review study examined the clinical course of measles diagnosed in children being treated for malignant disease in Newcastle upon Tyne during 1973-86. Of the 17 cases diagnosed, five were fatal. Factors associated with a favourable outcome were a typical rash and Koplik's spots, which were accompanied by a detectable serum antibody response and the disappearance of measles giant cells from nasopharyngeal secretions. Pneumonitis severe enough to require assisted ventilation was invariably fatal. Pneumonitis and encephalitis were the main complications. Treatment included immunoglobulin, interferon, and ribavirin, but none could clearly be shown to be effective. The comparatively low mortality in this series may have been due to the extensive use of the fluorescent antibody technique in Newcastle during the study period and therefore detection of less severe cases as compared with other reports. PMID:3113596

Kernahan, J; McQuillin, J; Craft, A W

1987-01-01

461

Targeting XIAP for the treatment of malignancy.  

PubMed

X-linked inhibitor of apoptosis protein (XIAP) is a member of the inhibitor of apoptosis proteins family of caspase inhibitors that selectively binds and inhibits caspases-3, -7 and -9, but not caspase-8. As such, XIAP blocks a substantial portion of the apoptosis pathway and is an attractive target for novel therapeutic agents for the treatment of malignancy. Antisense oligonucleotides directed against XIAP are effective in vitro and are currently being evaluated in clinical trials. Small molecule XIAP inhibitors that target the baculovirus IAP repeat (BIR) 2 or BIR 3 domain are in preclinical development and are advancing toward the clinic. This review will discuss the progress being made in developing antisense and small-molecule XIAP inhibitors. PMID:16322751

Schimmer, A D; Dalili, S; Batey, R A; Riedl, S J

2006-02-01

462

Primary Malignant Fibrous Histiocytoma: A Rare Case  

PubMed Central

Malignant fibrous histiocytoma (MFH) of the small intestine is an extremely rare condition. It occurs most commonly in the extremities and the trunk. We report a case of a 67-year-old woman who admitted with fever, myalgia, and altered status. After thorough investigation, a tumor of the jejunum was found. The patient underwent complete surgical removal of the tumor. A diagnosis of MFN (undifferentiated high-grade pleomorphic sarcoma) was made. The patient received adjuvant chemotherapy with Gemcitabine. Two years after the operation, the patient died due to recurrence of the disease. MFH of the small intestine is an extremely rare neoplasm with an aggressive biological behaviour. In this paper, pathogenesis, natural history, and treatment are reviewed. PMID:22028720

Katsourakis, Anastasios; Noussios, George; Hadjis, Iosif; Evangelou, Neofitos; Chatzitheoklitos, Efthimios

2011-01-01

463

Pneumonectomy for malignant disease: Factors affecting early morbidity and mortality  

Microsoft Academic Search

Objective: The purpose of this report is to analyze factors affecting morbidity and mortality after pneumonectomy for malignant disease. Methods: We retrospectively reviewed the cases of all patients who underwent pneumonectomy for malignancy at the Mayo Clinic. Between January 1, 1985, and September 30, 1998, 639 patients (469 men and 170 women) were identified. Median age was 64 years (range

Alain Bernard; Claude Deschamps; Mark S. Allen; Daniel L. Miller; Victor F. Trastek; Gregory D. Jenkins; Peter C. Pairolero

2001-01-01

464

Palliation of proximal malignant biliary obstruction by endoscopic endoprosthesis insertion  

Microsoft Academic Search

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).

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

1991-01-01

465

CRYPTOSPORIDIOSIS AND IMMUNOLOGICAL STATUS IN CHILDREN WITH MALIGNANT DISEASES  

Microsoft Academic Search

Objective: To investigate the relationship of Cryptosporidi um and immunological parameters among children with malignant diseases. Methods: Stool samples were collected from 101 children with malignant disease and 107 apparently healthy children. Direct smear method and then formalin-ether sedimentation method were done for all stool samples to identify intestinal parasites. Fecal smears were prepared from the sediment and stained by

Nadham K. Mahdi; Maysloon A. Al-Sadoon; Genan K. Hassan

466

Lymphoscintigraphy as a guide to treatment in malignant melanoma  

Microsoft Academic Search

Regional node dissection is practiced as a measure of prophylaxis in patients with stage I and II malignant melanoma. Although the drainage pattern of the extremities is obvious, in the head and neck and trunk it may be ambiguous. We have used lymphoscintigraphy to assist in delineating the lymphatic drainage in 22 patients with primary malignant melanoma. Fourteen patients had

John E. Woods; Alan M. Freedman; Manuel L. Brown

1989-01-01

467

Malignant Superior Vena Cava Syndrome: Is This a Medical Emergency?  

Microsoft Academic Search

Background: Superior vena cava syndrome (SVCS) is an association with a variety of benign and malignant etiologies. The aim of this study was to evaluate if malignant SVCS is a real medical emergency or if we are able to obtain a definite histological diagnosis before chemo- radiotherapy. Materials and Methods: In this prospective case series study, we have evaluated epidemio-

Reza Bagheri; Mohammadbagher Rahim; Fariba Rezaeetalab; Hadi Akbari; Reza Shojaian

468

Malignant phyllodes tumor of the breast: a case study.  

PubMed

Malignant phyllodes tumors of the breast are rare, fast-growing tumors that can be difficult to diagnose. A case study is featured about a young adult patient who lacked insurance and received a delayed diagnosis of malignant phyllodes tumor of the breast. This article includes pertinent clinical and age-specific considerations for comprehensive management. PMID:25253115

Keim-Malpass, Jessica; Mills, Anne M; Showalter, Shayna L

2014-10-01

469

Malignant solitary fibrous tumor with superior vena cava syndrome  

Microsoft Academic Search

Mediastinal solitary fibrous tumors, particularly those that are malignant, are rare. We report a case of malignant solitary\\u000a fibrous tumor with superior vena cava syndrome and highly aggressive behavior. Postoperative radiotherapy was performed due\\u000a to incomplete resection, but the tumor relapsed within 4 months. Gemcitabine-based chemotherapy was ineffective.

Satoshi Shiono; Masami Abiko; Gen Tamura; Toru Sato

2009-01-01

470

Surgical treatment of malignant mediastinal neurogenic tumors in children  

Microsoft Academic Search

Introduction: The aim of this study was to identify the role of surgical resection in the treatment of malignant mediastinal neurogenic tumors in children. Materials and methods: Thirty-eight consecutive children, who underwent surgical resection of a malignant mediastinal neurogenic tumor between 1986 and 2004, were included in this study. The tumor cell types were neuroblastoma in 23 patients (60.5%), ganglioneuroblastoma

Chang Hyun Kang; Young Tae Kim; Sang-Hoon Jeon; Sook-Whan Sung; Joo Hyun Kim

2007-01-01

471

Five markers useful for the distinction of canine mammary malignancy  

PubMed Central

Background Spontaneous canine mammary tumors constitute a serious clinical problem. There are significant differences in survival between cases with different tumor grades. Unfortunately, the distinction between various grades is not clear. A major problem in evaluating canine mammary cancer is identifying those, that are “truly” malignant. That is why the aim of our study was to find the new markers of canine malignancy, which could help to diagnose the most malignant tumors. Results Analysis of gene expression profiles of canine mammary carcinoma of various grade of malignancy followed by the boosted tree analysis distinguished a `gene set`. The expression of this gene set (sehrl, zfp37, mipep, relaxin, and magi3) differs significantly in the most malignant tumors at mRNA level as well as at protein level. Despite this `gene set` is very interesting as an additional tool to estimate canine mammary malignancy, it should be validated using higher number of samples. Conclusions The proposed gene set can constitute a `malignancy marker` that could help to distinguish the most malignant canine mammary carcinomas. These genes are also interesting as targets for further investigations and therapy. So far, only two of them were linked with the cancer development. PMID:23844591

2013-01-01

472

Primary malignant melanoma of the female urethra: a case report.  

PubMed

A case of primary malignant melanoma of the female urethra is reported. Physical examination and visceral studies confirmed the primary character of the tumour and histologic examination proved it to be nodular malignant melanoma. Less than 100 cases have been previously reported. The role of immunohistochemical stains to substantiate the diagnosis is stressed. Therapy and prognosis are briefly discussed. PMID:7615363

Aragona, F; Maio, G; Piazza, R; Salmaso, R

1995-01-01

473

Advances in the systemic therapy of malignant pleural mesothelioma  

Microsoft Academic Search

Malignant pleural mesothelioma is an aggressive thoracic malignancy associated with exposure to asbestos, and its incidence is anticipated to increase during the first half of this century. Chemotherapy is the mainstay of treatment, yet sufficiently robust evidence to substantiate the current standard of care has emerged only in the past 5 years. This Review summarizes the evidence supporting the clinical

Giovanni Gaudino; Kenneth J O'Byrne; Luciano Mutti; Jan van Meerbeeck; Dean A Fennell

2008-01-01