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Sample records for infantile malignant osteopetrosis

  1. A Case Report of Malignant Infantile Osteopetrosis

    PubMed Central

    Usta, Merve; Gulec, Seda Geylani; Karaman, Serap; Erdem, Ela; Emral, Hicran; Urganc?, Nafiye

    2012-01-01

    Background Malignant infantile osteopetrosis (MIOP) presents early in life with extreme sclerosis of the skeleton and reduction of bone marrow spaces. Since there is a defect in the bone marrow, the disease can cause anemia, extramedullary hematopoiesis secondary to anemia leading to hepatosplenomegaly, cranial nerves compression and severe growth failure. This disorder is often lethal within the first decade of life because of secondary infections. Stem cell transplantation (SCT) remains the only curative therapy. Case Presentation We report a two-month old male infant, diagnosed as MIOP while investigating the cause of hepatosplenomegaly. The patient was referred for stem cell transplantation. Conclusion Malignant infantile osteopetrosis should be kept in mind as a rare cause of hepatosplenomegaly and the patient should be referred for stem cell transplantation before neurologic or visual impairment develops. PMID:23399783

  2. Infantile or malignant osteopetrosis: case report of two siblings.

    PubMed

    Rao P, Tarakeswara; V, Sunita; T P, Gandhi; Harsha, Sri

    2013-08-01

    Infantile or Malignant osteopetrosis is a rare congenital disorder of bone resorption. It is caused by failure of osteoclasts to reabsorb immature bone. Severe infantile or malignant osteopetrosis present at birth or develops within the first few months of life. We are reporting here a case of two siblings with malignant osteopetrosis. Prominent clinical features included marked pallor, noisy respiration, progressive blindness and developmental delay. PMID:24086906

  3. Infantile or Malignant Osteopetrosis: Case Report of Two Siblings

    PubMed Central

    Rao P., Tarakeswara; V., Sunita; T.P., Gandhi; Harsha, Sri

    2013-01-01

    Infantile or Malignant osteopetrosis is a rare congenital disorder of bone resorption. It is caused by failure of osteoclasts to reabsorb immature bone. Severe infantile or malignant osteopetrosis present at birth or develops within the first few months of life. We are reporting here a case of two siblings with malignant osteopetrosis. Prominent clinical features included marked pallor, noisy respiration, progressive blindness and developmental delay. PMID:24086906

  4. Malignant infantile osteopetrosis and primary pulmonary hypertension: a new combination?

    PubMed

    Kasow, Kimberly A; Bonfim, Carmem; Asch, Julie; Margolis, David A; Jenkins, Jesse; Tamburro, Robert F; Handgretinger, Rupert; Horwitz, Edwin M

    2004-02-01

    Malignant infantile osteopetrosis (MIOP), a rare genetic disorder of the osteoclast, is fatal without hematopoietic stem cell transplantation. Primary pulmonary hypertension (PPH), a rare progressive disorder of the pulmonary circulation, is predominantly fatal in the absence of successful therapy. A clinical association between these two disorders has not been recognized and a pathophysiologic link between osteoclast function and pulmonary vascular pressure as a rationale for such an association is not readily apparent. Here, we report five infants with MIOP, without cardiac abnormalities, who were found to have PPH after undergoing stem cell transplantation. We suggest that PPH may be linked to a specific variant of MIOP and recognizing the potential for pulmonary hypertension in children with MIOP may lead to a more rapid diagnosis and life-saving intervention. PMID:14752886

  5. [Malignant infantile osteopetrosis: Case report of a 5-month-old boy].

    PubMed

    Ledemazel, J; Plantaz, D; Pagnier, A; Girard, P; Lasfargue, M; Hullo, E; Dietrich, K; Collet, C; Moshous, D

    2016-04-01

    Malignant infantile osteopetrosis is a rare congenital disease characterized by a dysfunction of osteoclasts followed by an abnormal bone densification. We report the case of a 5-month-old infant in whom this disease was suspected because of the clinical (hepatosplenomegaly, gingival hypertrophy), hematological (pancytopenia and hypocalcemia), and radiological criteria (abnormal bone density, periosteal reaction). The genetic investigation confirmed the diagnosis. Compound heterozygous mutations in the CLCN7 gene were identified, including an as yet undescribed mutation. The second mutation had already been described as being responsible for severe and irreversible neurological damage in patients with osteopetrosis. Since this patient presented severely delayed development, he was not eligible for bone marrow transplantation. PMID:26850155

  6. A Histologically Diagnosed Case with Infantile Osteopetrosis Complicated by Hypopituitarism

    PubMed Central

    Diniz, Gulden; Olukman, Ozgur; Calkavur, Sebnem; Buyukinan, Muammer; Altay, Canan

    2015-01-01

    Malignant infantile osteopetrosis is a rarely seen severe disorder which appears early in life with general sclerosis of the skeleton. It is caused by functionally defective osteoclasts which fail to resorb bone. Affected infants can exhibit a wide spectrum of clinical manifestations including impaired hematopoiesis, hepatosplenomegaly, visual impairment, and hypocalcemia. With the exception of secondary hyperparathyroidism, involvement of the endocrine system seems to be quite rare. Hypopituitarism is defined as underproduction of the growth hormone in combination with deficiencies of other pituitary hormones. Any lesion that damages hypothalamus, pituitary stalk, or anterior pituitary can cause secondary hypopituitarism. In this report, we presented a rare combination of malignant infantile osteopetrosis and secondary hypopituitarism in a newborn who presented predominantly with endocrinological symptoms. This is the first case report of malignant infantile osteopetrosis accompanied by hypopituitarism secondary to sclerosis of the sella turcica. On the other hand, this is a very interesting case which was diagnosed based on histological examination of bone marrow biopsy specimens despite lack of any clinical suspicion. PMID:26576309

  7. A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient.

    PubMed

    Zeng, Binghui; Li, Ru; Hu, Yuelin; Hu, Bin; Zhao, Qiang; Liu, Huijiao; Yuan, Ping; Wang, Yiming

    2016-01-15

    Osteopetrosis is a group of heterogeneous disorders caused by the dysfunction of osteoclasts. The CLCN7 and TCIRG1 genes are the major obligate genes responsible for infantile malignant osteopetrosis (IMO). IMO patients usually die in infancy or before three years of age. In this study, we report a patient who was diagnosed with IMO at seven months of age. The patient presented with classical radiological features of IMO. She also exhibited erythropenia, thrombocytopenia, hepatosplenomegaly and neurodegeneration. The parents discontinued any medical treatment for the patient. Surprisingly, the patient's condition did not deteriorate when she was admitted a second time at the age of four years and nine months, despite not receiving any medical support during the untreated period. We sequenced the CLCN7 and TCIRG1 genes of the patient and her parents and identified a novel c.285+1G>A (IVS3+1G>A) mutation and the known c.896C>T (p.Ala299Val) mutation. The novel c.285+1G>A mutation occurred on the splice donor of the third intron of CLCN7. This mutation was predicted to interfere with normal splicing between exons 3 and 4, thereby truncating 711 amino acids from the C terminus and resulting in the loss of all of the functional domains of the encoded protein. The c.896C>T (p.Ala299Val) mutation was a previously known pathogenic mutation. We did not find any pathogenic mutations in the TCIRG1 gene. CLCN7-related osteopetrosis is known to have a high phenotype heterogeneity. Our study demonstrates a wide heterogeneity in the progression of the phenotypes and expanded the mutational spectrum for the CLCN7 gene. PMID:26477479

  8. Hematopoietic stem cell transplantation for infantile osteopetrosis

    PubMed Central

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

    2015-01-01

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

  9. Hematopoietic stem cell transplantation for infantile osteopetrosis.

    PubMed

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

    2015-07-01

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

  10. [Osteopetrosis. Classification, etiology, treatment options and implications for oral health].

    PubMed

    de Baat, P; Heijboer, M P; de Baat, C

    2005-12-01

    Bone is continuously remodelled to maintain its strength and structural integrity. Remodelling is the result of an equilibrium between bone formation performed by osteoblasts and bone resorption performed by osteoclasts. In osteopetrosis this equilibrium is disturbed by a defect in the osteoclastogenesis or by disfunction of osteoclasts. Osteopetrosis is divided into four types: malignant infantile osteopetrosis, intermediate osteopetrosis, and two types of autosomal osteopetrosis. Malignant infantile osteopetrosis is usually diagnosed within the first year of birth by bone sclerosis and bone marrow obliteration. This type is very severe and usually results in death within a few years. The intermediate type usually appears before the age of ten and leads to recurrent pathologic fractures and cranial nerve compression. Autosomal dominant osteopetrosis is usually mild and consists of two sybtypes. Type I involves marked thickening of the cranial vault. Type II patients have predominantly sclerosis of the pelvis, the vertebrae and the base of the skull. Type I and II patients may often be long-lasting asymptomatic, but will eventually present with pathologic fractures, bone pain, and the effects of cranial nerve compression. Oral problems of osteopetrosis are delayed tooth eruption, absence of some teeth, malformed teeth, enamel hypoplasia, disturbed dentinogenesis, hypomineralisation of enamel and dentin, propensity for tooth decay, defects of the periodontal membrane, thickened lamina dura, mandibular protrusion, and the presence of odontomas. Tooth removal should be limited as it may induce bone fractures and osteomyelitis. PMID:16385937

  11. Prosthetic aspects in adult osteopetrosis.

    PubMed

    Ogino, Yoichiro; Ayukawa, Yasunori; Tomita, Yoko; Koyano, Kiyoshi

    2014-10-01

    Osteopetrosis (OP) is a rare condition characterized by skeletal sclerosis caused by dysfunctional osteoclasts. Though many reports have described severe infantile-malignant autosomal recessive OP, few have described the prosthetic management of adult OP. This report discusses the prosthetic treatment of adult OP. Although prosthodontists should try to reconstruct occlusal function as much as possible, a conservative prosthodontic approach may be a reasonable and recommended treatment option for minimizing the risk of further osteomyelitis and osteonecrosis. PMID:24819526

  12. Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a TCIRG1 gene mutation.

    PubMed

    Bruder, Elisabeth; Stallmach, Thomas; Peier, Karin; Superti-Furga, Andrea; Vezzoni, Paolo

    2003-01-01

    Bone biopsies were performed before and 7 weeks after transplantation of HLA-compatible bone marrow from the sister of a 3-month-old male infant with malignant autosomal recessive osteopetrosis due to a mutation in the TCIRG1 (ATP6i) gene. The first biopsy showed broad, immature bony trabeculae and no medullary hematopoiesis. Only few osteoclasts were present and electron microscopy showed absence of ruffled borders. The post transplant biopsy revealed donor osteoclasts with ruffled borders and intracytoplasmic mineral crystals as proof of active bone resorption that had not yet been detectable radiographically. Osteopetrosis is a genetically heterogeneous disease. Definition at the DNA-level will enable comparison of treatment strategies and prenatal diagnosis. As shown in this patient, the autosomal recessive form caused by a TCIRG1 gene mutation may be amenable to bone marrow transplantation. Activity of donor osteoclasts can be demonstrated morphologically on biopsy, before bone remodeling becomes evident radiologically. PMID:12687885

  13. Genetics Home Reference: Osteopetrosis

    MedlinePLUS

    ... September 2010 What is osteopetrosis? Osteopetrosis is a bone disease that makes bones abnormally dense and prone to ... do people use for osteopetrosis? congenital osteopetrosis marble bone disease osteopetroses For more information about naming genetic conditions, ...

  14. A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis

    PubMed Central

    Borthwick, K; Kandemir, N; Topaloglu, R; Kornak, U; Bakkaloglu, A; Yordam, N; Ozen, S; Mocan, H; Shah, G; Sly, W; Karet, F

    2003-01-01

    We report the molecular genetic investigation of two consanguineous kindreds where osteopetrosis and distal RTA (dRTA) were both manifest. One kindred harbours a novel homozygous frameshift alteration in CA2. In the other, CAII levels were normal despite a similar clinical picture, and we excluded defects in CA2. In this kindred, two separate recessive disorders are penetrant, each affecting a different, tissue specific subunit of the vacuolar proton pump (H+-ATPase), providing a highly unusual, novel genetic explanation for the coexistence of osteopetrosis and dRTA. The osteopetrosis is the result of a homozygous deletion in TCIRG1, which encodes an osteoclast specific isoform of subunit a of the H+-ATPase, while the dRTA is associated with a homozygous mutation in ATP6V1B1, encoding the kidney specific B1 subunit of H+-ATPase. This kindred is exceptional firstly because the coinheritance of two rare recessive disorders has created a phenocopy of CAII deficiency, and secondly because these disorders affect two different subunits of the H+-ATPase that have opposite effects on bone density, but which have only recently been determined to possess tissue specific isoforms. PMID:12566520

  15. Osteopetrosis and Chiari type I malformation: a rare association

    PubMed Central

    Ekici, Mehmet Ali; C?kla, Ula?; Bauer, Andrew; Ba?kaya, Mustafa K.

    2015-01-01

    Osteopetrosis (OP) is hereditary X-linked, autosomal recessive (ARO), or autosomal dominant (ADO) skeletal disease. ARO has two subtypes, which are infantile malignant and intermediate type. ARO and X-linked OP have poor clinical outcome. ADO is called adult benign type because of the normal life expectancy, which has type I and type II. Here, the authors present an ADO patient with Chiari type I. Concomitant ADO with Chiari type I malformation is an extremely rare condition. Literature research yielded only one case report to date. PMID:26503583

  16. Osteopetrosis: genetics, treatment and new insights into osteoclast function.

    PubMed

    Sobacchi, Cristina; Schulz, Ansgar; Coxon, Fraser P; Villa, Anna; Helfrich, Miep H

    2013-09-01

    Osteopetrosis is a genetic condition of increased bone mass, which is caused by defects in osteoclast formation and function. Both autosomal recessive and autosomal dominant forms exist, but this Review focuses on autosomal recessive osteopetrosis (ARO), also known as malignant infantile osteopetrosis. The genetic basis of this disease is now largely uncovered: mutations in TCIRG1, CLCN7, OSTM1, SNX10 and PLEKHM1 lead to osteoclast-rich ARO (in which osteoclasts are abundant but have severely impaired resorptive function), whereas mutations in TNFSF11 and TNFRSF11A lead to osteoclast-poor ARO. In osteoclast-rich ARO, impaired endosomal and lysosomal vesicle trafficking results in defective osteoclast ruffled-border formation and, hence, the inability to resorb bone and mineralized cartilage. ARO presents soon after birth and can be fatal if left untreated. However, the disease is heterogeneous in clinical presentation and often misdiagnosed. This article describes the genetics of ARO and discusses the diagnostic role of next-generation sequencing methods. The management of affected patients, including guidelines for the indication of haematopoietic stem cell transplantation (which can provide a cure for many types of ARO), are outlined. Finally, novel treatments, including preclinical data on in utero stem cell treatment, RANKL replacement therapy and denosumab therapy for hypercalcaemia are also discussed. PMID:23877423

  17. Osteopetrosis: Radiological & Radionuclide Imaging

    PubMed Central

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

    2015-01-01

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

  18. Osteopetrosis Mutation R444L Causes Endoplasmic Reticulum Retention and Misprocessing of Vacuolar H+-ATPase a3 Subunit*

    PubMed Central

    Bhargava, Ajay; Voronov, Irina; Wang, Yongqiang; Glogauer, Michael; Kartner, Norbert; Manolson, Morris F.

    2012-01-01

    Osteopetrosis is a genetic bone disease characterized by increased bone density and fragility. The R444L missense mutation in the human V-ATPase a3 subunit (TCIRG1) is one of several known mutations in a3 and other proteins that can cause this disease. The autosomal recessive R444L mutation results in a particularly malignant form of infantile osteopetrosis that is lethal in infancy, or early childhood. We have studied this mutation using the pMSCV retroviral vector system to integrate the cDNA construct for green fluorescent protein (GFP)-fused a3R445L mutant protein into the RAW 264.7 mouse osteoclast differentiation model. In comparison with wild-type a3, the mutant glycoprotein localized to the ER instead of lysosomes and its oligosaccharide moiety was misprocessed, suggesting inability of the core-glycosylated glycoprotein to traffic to the Golgi. Reduced steady-state expression of the mutant protein, in comparison with wild type, suggested that the former was being degraded, likely through the endoplasmic reticulum-associated degradation pathway. In differentiated osteoclasts, a3R445L was found to degrade at an increased rate over the course of osteoclastogenesis. Limited proteolysis studies suggested that the R445L mutation alters mouse a3 protein conformation. Together, these data suggest that Arg-445 plays a role in protein folding, or stability, and that infantile malignant osteopetrosis caused by the R444L mutation in the human V-ATPase a3 subunit is another member of the growing class of protein folding diseases. This may have implications for early-intervention treatment, using protein rescue strategies. PMID:22685294

  19. Osteopetrosis: An interpretation of its pathogenesis

    SciTech Connect

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

    1981-12-01

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

  20. Jaw osteomyelitis as a complication in osteopetrosis.

    PubMed

    Tabrizi, Reza; Arabi, Ali Mohammad; Arabion, Hamid Reza; Gholami, Mehdi

    2010-01-01

    Osteopetrosis is a rare bone dysplasia. The disease is characterized by osteoclast dysfunction, producing diffuse symmetrical increase in skeletal bone density and exhibiting various clinical manifestation because of heterogeneous entity. Among them, jaw osteomyelitis, frequently mandibular osteomyelitis, is an important complication encountered in these patients. In this article, 2 patients diagnosed with osteopetrosis with mandibular osteomyelitis would be presented. We used debridement and decortications, removal of hopeless teeth, and topical phenytoin in the management of mandibular osteomyelitis. PMID:20072016

  1. [Cure of osteopetrosis by allogenic bone marrow injection in the double mutant "osteopetrosi-athymic" rat].

    PubMed

    Moutier, R; Toyama, K; Lamendin, H; Ballet, J J

    1979-11-19

    The cure of osteopetrosis by allogenic bone marrow injection has been obtained in homozygous rats for both mutations, osteopetrosis (op) and athymic nude (rnu). This new animal model will help in studying the eventual relationship between the bone resorption process and the immunological reconstitution. PMID:121252

  2. Autosomal-dominant osteopetrosis: an incidental finding.

    PubMed

    Rajathi, Maria; Austin, Ravi David; Mathew, Philips; Bharathi, C Saravana; Srivastava, Kumar Chandan

    2010-01-01

    Osteopetrosis is a descriptive term that refers to a group of rare, heritable disorders of the skeleton. Osteopetrotic conditions vary greatly in their presentation and severity, from just as an incidental finding on radiographs to causing life-threatening complications such as bone marrow suppression. It is caused by failure of osteoclast development and function. Osteopetrosis can be inherited as autosomal-recessive, autosomal-dominant or as X-linked traits, with the most severe forms being the autosomal-recessive ones. The severity of the disease is mild to moderate in the autosomal-dominant forms, with normal life expectancy. Diagnosis is largely based on clinical and radiographic evaluation. The present paper reports a case of autosomal-dominant osteopetrosis complicated by osteomyelitis with a short review of the condition. PMID:21187637

  3. [Osteomyelitis of the jaw and osteopetrosis].

    PubMed

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

    1991-01-01

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

  4. Osteopetrosis: A New Cause of Upper Gastrointestinal Bleeding.

    PubMed

    Katz, Kristina N; Shafqet, Muhammad A; Rampertab, S Devi; Pooran, Nakechand

    2014-10-01

    Osteopetrosis is a genetic disorder of bone remodeling caused by osteoclast dysfunction. Clinical features include short stature, frequent fractures, and recurrent infections. Abnormal bone obliterates the marrow cavity, resulting pancytopenia and extramedullary hematopoiesis in the liver and spleen. The splenomegaly can lead to left-sided portal hypertension. We report the second case of osteopetrosis-induced portal hypertension and the first case of upper gastrointestinal bleeding in a 52-year-old woman with osteopetrosis. PMID:26157903

  5. When bone becomes marble: Head and neck manifestations of osteopetrosis

    PubMed Central

    Hamdan, Abdul-Latif H; Nabulsi, Mona M; Farhat, Firas T; Haidar, Rashid K; Fuleihan, Nabil S

    2006-01-01

    Osteopetrosis is a genetically determined bone disease resulting from malfunction of osteoclastic activity, leading to excessive deposition of immature bone. This may result in complete agenesis of the paranasal sinuses, oral complications and multiple cranial neuropathies. The case of a 12-year-old boy with osteopetrosis is presented. PMID:19030245

  6. Scintigraphy in a patient with complicated osteopetrosis

    SciTech Connect

    Adams, B.K.

    1989-05-01

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

  7. Total knee arthroplasty in osteopetrosis using patient-specific instrumentation.

    PubMed

    Mayer, Stephanie W; Hug, Kevin T; Hansen, Benjamin J; Bolognesi, Michael P

    2012-09-01

    Osteopetrosis is an uncommon endocrine disease characterized by defective osteoclast resorption of bones. This causes a hard, sclerotic, and brittle bone throughout the skeleton. Fractures and unforgiving subchondral bone are common in this condition, both of which can lead to osteoarthritis. Total knee arthroplasty is often the treatment of choice but presents challenges due to the hard and sclerotic bone present throughout the metaphysis and diaphysis of the femur and the tibia. We present a case of knee osteoarthritis in a patient with osteopetrosis who underwent total knee arthroplasty using patient-specific instrumentation. This technique eliminates intramedullary alignment and minimizes drilling, reaming, and saw passes, making it attractive in the setting of diseases such as osteopetrosis to decrease operative time and potential complications. PMID:22285231

  8. The failure experience of complex total hip arthroplastyin osteopetrosis: case report and literature review

    PubMed Central

    Dong, Lujue; He, Wei; Huo, Shaochuan; Guo, Cheng; Zhou, Chi; Chen, Qunqun; Tang, Hongyu; Xie, Xinying; Wang, Haibin

    2015-01-01

    There is rare literature elaborating the complex total hip arthroplasty (THA) in patients with osteopetrosis who experienced malunion from femoral neck fracture. We have summarized the failure experience of the complex THA in osteopetrosis. Learned from the resurgery in the case reported by this paper, we recommend to highlight the initial stability of the prosthesis and not to overestimate the potency of fracture healing in the complex THA in osteopetrosis. PMID:26628954

  9. Osteopetrosis: a Case of 'Hostile Chest' Associated with Symptomatic Aortic Valve Stenosis.

    PubMed

    Villa, Emmanuel; Lauria, Giuseppe; Messina, Antonio; Rizzi, Andrea; D'Ambrosio, Angela; Leonzi, Ornella; Sabatini, Tony; Troise, Giovanni

    2015-01-01

    Osteopetrosis is a heterogeneous group of heritable conditions in which there is a defect in bone resorption by osteoclasts. It is associated with an increased skeletal mass due to abnormally dense, but brittle, bones. Osteopetrosis varies greatly in severity, and fracture treatment remains a matter of controversy due to altered responses to fixation and the risk of osteomyelitis. The fate of sternotomy in this condition is unknown, and osteopetrosis could represent a situation of 'hostile chest'. Here, the case is described of a patient with osteopetrosis and concomitant symptomatic aortic valve stenosis and coronary artery disease. PMID:26182630

  10. Cánceres infantiles

    Cancer.gov

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

  11. Infantile colic.

    PubMed

    Kanabar, Dipak

    2004-01-01

    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

  12. Early and transient osteopetrosis in microphthalmic MIB-rats.

    PubMed

    Wojtowicz, A; Moutier, R; Grzesik, W; Dziedzic-Goclawska, A; Lamendin, H; Ostrowski, K

    1990-01-01

    Microphtalmic blanc mutation (mib/mib) displays a very mild form of osteopetrosis in rats. The autosomal recessive mib mutation shows pleiotropic expressions in homozygotes. Microphtalmia, absence of eye and skin pigmentation, retardation in the tooth eruption were observed in the mutants. Most bone abnormalities occurred in newborns. An increased radiological opacity of long bones, persistence of primitive bone in medullary cavities, reduced number of poorly differentiated osteoclasts in mandibulae, reduced number of mononuclear peritoneal cells as well as reduced number of mononuclear osteoclast precursors in peritoneal cell population were found. In 3 weeks old and in adult mutants, both bone structure and the number of mandible osteoclasts appear normal, but the number of blood monocytes, peritoneal cells and mononuclear osteoclast precursors in peritoneal cell population remain significantly lower than in the healthy littermates. These observations indicate that the early failure of osteoclast differentiation and maturation is transient in the mib/mib form of osteopetrosis. PMID:2102071

  13. Infantile spasms.

    PubMed

    Hrachovy, Richard A; Frost, James D

    2013-01-01

    Infantile spasms are a unique disorder of infancy and early childhood. The average age at onset of infantile spasms is 6 months and the average incidence of the disorder is approximately 0.31 per 1000 live births. Approximately one-quarter of patients will spontaneously stop having spasms within 1 year of onset. There are three main types of epileptic spasms: flexor, extensor, and mixed flexor-extensor. Spasms frequently occur in clusters and commonly occur upon arousal from sleep. The motor spasms are frequently confused with other normal and abnormal infant behaviors. Typically, the interictal EEG reveals hypsarrhythmia or one of its variants. A variety of ictal EEG patterns may be seen, the most common of which is a generalized slow-wave transient followed by an attenuation of the background activity in all regions. The primary treatment objective is to improve the EEG and stop the spasms as soon as possible and to avoid prolonged treatment durations with any form of therapy. Currently, there is no conclusive evidence that medical or surgical treatment of infantile spasms significantly alters long-term outcome. Although the pathophysiological mechanism underlying infantile spasms is unknown, several animal models of infantile spasms have been developed in recent years. PMID:23622208

  14. Autosomal dominant osteopetrosis revisited: lessons from recent studies.

    PubMed

    Bollerslev, Jens; Henriksen, Kim; Nielsen, Morten Frost; Brixen, Kim; Van Hul, Wim

    2013-08-01

    Systematic studies of autosomal dominant osteopetrosis (ADO) were followed by the identification of underlying mutations giving unique possibilities to perform translational studies. What was previously designated ADO1 turned out to be a high bone mass phenotype caused by a missense mutation in the first propeller of LRP5, a region of importance for binding inhibitory proteins. Thereby, ADO1 cannot be regarded as a classical form of osteopetrosis but must now be considered a disease of LRP5 activation. ADO (Albers-Schönberg disease, or previously ADO2) is characterized by increased number of osteoclasts and a defect in the chloride transport system (ClC-7) of importance for acidification of the resorption lacuna (a form of Chloride Channel 7 Deficiency Osteopetrosis). Ex vivo studies of osteoclasts from ADO have shown that cells do form normally but have reduced resorption capacity and an expanded life span. Bone formation seems normal despite decreased osteoclast function. Uncoupling of formation from resorption makes ADO of interest for new strategies for treatment of osteoporosis. Recent studies have integrated bone metabolism in whole-body energy homeostasis. Patients with ADO may have decreased insulin levels indicating importance beyond bone metabolism. There seems to be a paradigm shift in the treatment of osteoporosis. Targeting ClC-7 might introduce a new principle of dual action. Drugs affecting ClC-7 could be antiresorptive, still allowing ongoing bone formation. Inversely, drugs affecting the inhibitory site of LRP5 might stimulate bone formation and inhibit resorption. Thereby, these studies have highlighted several intriguing treatment possibilities, employing novel modes of action, which could provide benefits to the treatment of osteoporosis. PMID:23744590

  15. Association of possible osteopetrosis with acute myeloid leukaemia in a child

    PubMed Central

    Prasad, Rajniti; Jaiswal, B P; Mishra, O P; Singh, Utpal Kant

    2013-01-01

    Osteopetrosis is a rare disease characterised by an increase in bone mass, skeletal malformations and bone marrow failure due to defective bone resorption. We report a 3-month-old male child presented with chest infections, failure to thrive and hepatosplenomegaly and diagnosed with osteopetrosis associated with acute myeloid leukaemia M3 type (AML-M3). The patient died on day 7 of admission due to respiratory failure. To our knowledge, this is the first case where both osteopetrosis and AML is diagnosed in a patient. PMID:23921696

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  17. Rapid Skeletal Turnover In A Radiographic Mimic Of Osteopetrosis

    PubMed Central

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

    2015-01-01

    Among the high bone mass disorders, the osteopetroses reflect osteoclast failure that prevents skeletal resorption and turnover leading to reduced bone growth and modeling and characteristic histopathological and radiographic findings. We report an 11-year-old boy with a new syndrome that radiographically mimics osteopetrosis but features rapid skeletal turnover. He presented at age 21 months with a parasellar, osteoclast-rich giant cell granuloma. Radiographs showed a dense skull, generalized osteosclerosis, and cortical thickening, medullary cavity narrowing, and diminished modeling of tubular bones. His serum alkaline phosphatase was > 5,000 IU/L (normal < 850). After partial resection, the granuloma re-grew but then regressed and stabilized during three years of uncomplicated pamidronate treatment. His hyperphosphatasemia transiently diminished but all bone turnover markers, especially those of apposition, remained elevated. Two years after pamidronate therapy stopped, BMD z-scores reached + 9.1 and + 5.8 in the lumbar spine and hip, respectively, and iliac crest histopathology confirmed rapid bone remodeling. Serum multiplex biomarker profiling was striking for low sclerostin. Mutation analysis was negative for activation of LRP4, LRP5, or TGF?1 and for defective SOST, OPG, RANKL, RANK, SQSTM1, or sFRP1. Microarray showed no notable copy number variation. Studies of his non-consanguineous parents were unremarkable. The etiology and pathogenesis of this unique syndrome are unknown. PMID:24919763

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

    PubMed Central

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

    2015-01-01

    Osteopetrosis is a rare genetic disorder characterized by an increase of bone mass due to defective osteoclast function. Patients typically displayed spontaneous fractures, anemia, and in the most severe forms hepatosplenomegaly and compression of cranial facial nerves leading to deafness and blindness. Osteopetrosis comprises a heterogeneous group of diseases as several forms are known with different models of inheritance and severity from asymptomatic to lethal. This review summarizes the genetic and clinical features of osteopetrosis, emphasizing how recent studies of this disease have contributed to understanding the central role of the skeleton in the whole body physiology. In particular, the interplay of bone with the stomach, insulin metabolism, male fertility, the immune system, bone marrow, and fat is described. PMID:25873953

  19. Osteopetrosis, Hypophosphatemia, and Phosphaturia in a Young Man: A Case Presentation and Differential Diagnosis

    PubMed Central

    Mitri, Zahi; Tangpricha, Vin

    2012-01-01

    We report the case of a 30-year-old African-American male with osteopetrosis and hypophosphatemia, presenting with diffuse myalgias. Laboratory evaluation performed revealed a low serum phosphorus level with urinary phosphate wasting, low calcium, and 25-hydroxyvitamin D concentrations, as well as elevated alkaline phosphatase. Skull and pelvic radiographs revealed high bone density consistent with high bone mass found on bone mineral density reports. PHEX gene mutation analysis was negative. Patient was started on calcium and phosphorus replacement, and he clinically improved. This paper will review the different subtypes of osteopetrosis, and the evaluation of hypophosphatemia. PMID:22934198

  20. Infantilizing Autism.

    PubMed Central

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

    2014-01-01

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

  1. [Cure of osteopetrosis by injection of allogenic bone marrow into "op" rats treated with cyclosporin A].

    PubMed

    Moutier, R; Toyama, K; Lamendin, H

    1985-01-01

    The cure of osteopetrosis by allogenic bone marrow injection has been obtained in "op" mutant rat kept under cyclosporin A treatment. This immunosuppressive agent able to prevent the rejection of transplanted cells does not impair the propriety of these cells to restore the bone resorption process in this severe osteopetrotic form. PMID:3937567

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

    PubMed Central

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

    2014-01-01

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

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

    ClinicalTrials.gov

    2016-01-22

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

  4. Management of infantile spasms

    PubMed Central

    2015-01-01

    West syndrome, or infantile spasms syndrome is a frequently catastrophic infantile epileptic encephalopathy with a variety of etiologies. Despite the heterogeneous nature of causes of infantile spasms, a careful diagnostic evaluation can lead to diagnosis in many patients and may guide treatment choices. Magnetic resonance imaging (MRI) brain remains the highest yield initial study in determining the etiology in infantile spasms. Treatment of infantile spasms has little class I data, but adrenocorticotropic hormone (ACTH), prednisolone and vigabatrin have the best evidence as first-line medications. Other therapies including the ketogenic diet and other anti-epileptics medications may also prove useful in the treatment of infantile spasms. In general, more studies are needed to determine the best treatment regimen for this condition. Prognosis is generally poor, with the majority of patients having some or profound neurocognitive delays. Patients without delays at diagnosis and without an identifiable etiology, if treated appropriately, have the greatest likelihood of a normal outcome. PMID:26835388

  5. Infantile Idiopathic Scoliosis

    MedlinePLUS

    ... Syndromic Scoliosis Infantile Idiopathic Scoliosis Juvenile Idiopathic Scoliosis Thoracic Insufficiency Syndrome (TIS) Scoliosis Surgery Techniques Adolescent Idiopathic Scoliosis Radiation Exposure in Scoliosis ...

  6. Osteopetrosis-associated osteomyelitis of the jaws: a report of 4 cases.

    PubMed

    Krithika, Chandrasekaran; Neelakandan, Ravanasamudram Sundaram; Sivapathasundaram, Balasundaram; Koteeswaran, Domadula; Rajaram, Pommai Chinnaiah; Shetkar, Girish Subhash

    2009-09-01

    Osteopetrosis represents a heterogeneous group of rare, hereditary bone disorders with variable clinical features and an increase in bone density. The common clinical findings that usually lead to the detection of the disease are fractures and osteomyelitis of the mandible. We report 4 cases of osteopetrosis, complicated by osteomyelitis of the jaws. Maxillary bone was involved in 3 of the cases and mandible in 1 of the cases. Osteomyelitis of the maxilla is extremely rare. When it occurs, there is invariably an underlying predisposing condition. All the 4 patients presented with osteomyelitis after dental extraction. Skeletal survey revealed multiple healed fractures of the long bones in all the cases. Two patients presented with myelophthisic anemia and evidence of extraosseous hematopoiesis and 1 patient with osteopetrotic stenosis of optic and auditory nerve exit foramina. All 4 cases were treated with intravenous antibiotic therapy and debridement of necrotic bone. PMID:19716493

  7. Bone growth causing ventriculoperitoneal shunt malfunction in a patient with osteopetrosis. Case report.

    PubMed

    Grossman, Rachel; Feldman, Zeev

    2004-05-01

    Osteopetrosis is an inherited skeletal condition of defective osteoclastic resorption of bone resulting in increased bone density. Osseous changes occur most severely at the base of the skull. Important clinical symptoms include cranial nerve palsies due to uni- or bilateral obliteration of cranial nerve foramina including deafness, facial paralysis, and optic nerve compression. Thickening of the skull and progressive diminution of the cranial capacity may lead to elevation of intracranial pressure, papilledema, and hydrocephalus. The authors present an unusual case of a patient with osteopetrosis in whom a ventriculoperitoneal shunt became obstructed at its exit from the skull by the developing bone mass. To the best of their knowledge, this has not been described. PMID:15287468

  8. Vasculogenesis in Infantile Hemangioma

    PubMed Central

    Boscolo, Elisa; Bischoff, Joyce

    2010-01-01

    Infantile hemangioma is a vascular tumor that occurs in 5-10% of infants of European descent. A defining feature of infantile hemangioma is its dramatic growth and development into a disorganized mass of blood vessels. Subsequently, a slow spontaneous involution begins around one year of age and continues for four to six years. The growth and involution of infantile hemangioma is very different from other vascular tumors and vascular malformations, which do not regress and can occur at any time during childhood or adult life. Much has been learned from careful study of the tissue morphology and gene expression patterns during the life-cycle of hemangioma. Tissue explants and tumor-derived cell populations have provided further insight to unravel the cellular and molecular basis of infantile hemangioma. A multipotent progenitor cell capable of de novo blood vessel formation has been isolated from infantile hemangioma, which suggests that this common tumor of infancy, long considered to be a model for pathologic angiogenesis, may also represent pathologic vasculogenesis. Whether viewed as angiogenesis or vasculogenesis, infantile hemangioma represents a vascular perturbation during a critical period of post-natal growth, and as such provides a unique opportunity to decipher mechanisms of human vascular development. PMID:19430954

  9. Persistent viral DNA synthesis associated with an avian osteopetrosis-inducing virus.

    PubMed

    Aurigemma, R E; Comstock, R D; Smith, R E

    1989-08-01

    Bone and red blood cell DNA was obtained from MAV-2(O) infected, osteopetrotic chickens and analyzed for the presence of integrated and unintegrated viral DNA. Results indicate that unintegrated MAV-2(O) DNA did not appear until after osteopetrotic lesions were well established. These observations lead us to conclude that, unlike some retroviral diseases, unintegrated viral DNA may not play a significant role in the pathogenesis of MAV-2(O) osteopetrosis. In addition, there was no evidence of a clonally derived tumor in the bone. PMID:2548335

  10. RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations.

    PubMed

    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

    2012-02-01

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

  11. Osteopetrosis in TAK1-deficient mice owing to defective NF-?B and NOTCH signaling

    PubMed Central

    Swarnkar, Gaurav; Karuppaiah, Kannan; Mbalaviele, Gabriel; Chen, Tim (Hung-Po); Abu-Amer, Yousef

    2015-01-01

    The MAP kinase TGF?-activated kinase (TAK1) plays a crucial role in physiologic and pathologic cellular functions including cell survival, differentiation, apoptosis, inflammation, and oncogenesis. However, the entire repertoire of its mechanism of action has not been elucidated. Here, we found that ablation of Tak1 in myeloid cells causes osteopetrosis in mice as a result of defective osteoclastogenesis. Mechanistically, Tak1 deficiency correlated with increased NUMB-like (NUMBL) levels. Accordingly, forced expression of Numbl abrogated osteoclastogenesis whereas its deletion partially restored osteoclastogenesis and reversed the phenotype of Tak1 deficiency. Tak1 deletion also down-regulated Notch intracellular domain (NICD), but increased the levels of the transcription factor recombinant recognition sequence binding protein at J? site (RBPJ), consistent with NUMBL regulating notch signaling through degradation of NICD, a modulator of RBPJ. Accordingly, deletion of Rbpj partially corrected osteopetrosis in Tak1-deficient mice. Furthermore, expression of active IKK2 in RBPJ/TAK1-deficient cells significantly restored osteoclastogenesis, indicating that activation of NF-?B is essential for complete rescue of the pathway. Thus, we propose that TAK1 regulates osteoclastogenesis by integrating activation of NF-?B and derepression of NOTCH/RBPJ in myeloid cells through inhibition of NUMBL. PMID:25535389

  12. Juvenile osteopetrosis: effects on blood and bone of prednisone and a low calcium, high phosphate diet.

    PubMed Central

    Dorantes, L M; Mejia, A M; Dorantes, S

    1986-01-01

    Four children with juvenile osteopetrosis are described who were treated with a combination of prednisone and a low calcium, high phosphate diet. One of the children, treated as a neonate, achieved complete clinical and radiological remission from the disease after nine months, at which point treatment was stopped. There have been no signs of recurrence for two years. Two who did not start treatment until over 24 months of age have shown a good clinical and radiological response but have remained on treatment for six years. The fourth child started treatment at 6 months and showed a good clinical response, but x ray films showed no change nine months later. He was then lost to follow up, stopped treatment, and died two years later of a septicaemia. These patients provide further evidence for the efficacy of steroids in juvenile osteopetrosis, and the combination with the low calcium, high phosphate diet described offers a potentially effective alternative treatment to marrow transplantation, both for the haematological and skeletal complications of the disorder. Images Fig. 1 Fig. 2 Fig. 3 PMID:3740906

  13. High and Low Dose OPG-Fc Cause Osteopetrosis-Like Changes in Infant Mice

    PubMed Central

    Bargman, Renee; Posham, Ram; Boskey, Adele; Carter, Erin; DiCarlo, Edward; Verdelis, Kostas; Raggio, Cathleen; Pleshko, Nancy

    2014-01-01

    Background Receptor Activator of Nuclear Factor-κB ligand (RANKL) inhibitors are being considered for use in children with osteogenesis imperfecta (OI). We sought to assess efficacy of two doses of a RANKL inhibitor, OPG-Fc, in a growing animal model of OI, the col1α2-deficient mouse (oim/oim) and its wildtype controls (+/+). Methods Treated mice showed runting and radiographic evidence of osteopetrosis with either high (20 mg/kg twice weekly) or low dose (1 mg/kg/week) OPG-Fc. Because of this adverse event, OPG-Fc treatment was halted and the mice were euthanized or monitored for recovery with monthly radiographs and assessment of serum osteoclast activity (TRACP-5b) until 25 weeks of age. Results Twelve weeks of OPG-Fc treatment resulted in radiographic and histologic osteopetrosis with no evidence of bone modeling and negative Tartrate-resistant acid phosphatase (TRAP) staining, root dentin abnormalities, and TRACP-5b activity suppression. Signs of recovery appeared four to eight weeks post-treatment cessation. Conclusion Both high and low dose OPG-Fc treatment resulted in osteopetrotic changes in infant mice, an outcome not seen in studies with the RANKL inhibitor RANK – Immunoglobulin Fc segment complex (RANK-Fc), or in studies with older animals. Further investigations of RANKL inhibitors prior to their consideration for use in children are necessary. PMID:22926546

  14. The Process of Infantilization

    ERIC Educational Resources Information Center

    Sharlin, Shlomo A.; Polansky, Norman A.

    1972-01-01

    Maternal attitudes and behaviors that result in infantilization and thus deter a retarded child from attaining potential were examined in 52 mothers and their borderline or mildly retarded children, 7- to 12-years of age, who had been tested previously. (Author/MC)

  15. Infantile tumoral calcinosis of the cervical spine presenting as torticollis.

    PubMed

    Ashraf, Ali; Diehn, Felix E; Luetmer, Patrick H; Lane, John I; Fritchie, Karen; Larson, A Noelle

    2016-01-01

    The computed tomography (CT) and MRI findings of infantile tumoral calcinosis and the utility of image-guided biopsy are demonstrated. A 5-month old presented with torticollis and a calcified cervical spinal mass. The radiologic appearance suggested a malignant neoplasm, prompting CT-guided biopsy, which diagnosed tumoral calcinosis. We hope to increase awareness of this entity and describe image-guided biopsy as a way to avoid morbidity associated with open biopsy. PMID:26520701

  16. Bone mineral density and laboratory evaluation of a type II autosomal dominant osteopetrosis carrier.

    PubMed

    Takacs, I; Cooper, H; Weaver, D D; Econs, M J

    1999-07-01

    Type II autosomal dominant osteopetrosis (ADO2) is an inherited disorder characterized by increased skeletal mass and characteristic abnormalities evident on radiography. Although previous investigators have described nonpenetrant individuals (carriers), it is not known whether carriers manifest subtle abnormalities. We hypothesized that ADO2 carriers would have an abnormality of osteoclast function that would lead to changes in bone mineral density (BMD), in serum tartrate-resistant acid phosphatase (TRAP), or in creatine kinase isoenzyme BB (CK-BB) levels that would permit carrier recognition. We identified a female carrier in a well-established ADO2 family and measured BMD, serum TRAP, and CK-BB concentrations. She had normal BMD, serum TRAP, and CK-BB concentrations. Thus, these measurements cannot be used to exclude carrier status in individuals who are seen for genetic counseling. However, measurements in other asymptotic carriers are necessary before concluding that these measurements are normal in all or most nonpenetrant individuals. PMID:10377007

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

    PubMed

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

    2014-12-01

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

  18. Malignant hypertension

    MedlinePLUS

    ... hypertension; Arteriolar nephrosclerosis; Nephrosclerosis - arteriolar; Hypertension - malignant; High blood pressure - malignant ... affects a small number of people with high blood pressure, including children and adults. It is more common ...

  19. Infantile fibrosarcoma of femur.

    PubMed

    Bernadó, L; Admella, C; Lucaya, J; Sanchez de Toledo, J; Bosch, J

    1987-01-01

    We describe the clinical presentation and pathological features of an infantile fibrosarcoma of the femur that occurred in a 3 1/2-month-old male infant. The tumor grew rapidly, reaching large size within a few months, finally requiring amputation. The tumor was poorly circumscribed, infiltrating the adjacent soft tissue extensively. Microscopically, it was a highly cellular tumor composed of immature-appearing spindle-shaped cells. Ultrastructural study revealed mesenchymal cells with fibroblastic and histiocytic differentiation. PMID:3658843

  20. Osteopetrosis Overview

    MedlinePLUS

    ... Diseases (NIAMS) Website: http://www.niams.nih.gov Genetic and Rare Diseases Information Center Website: http://rarediseases.info.nih.gov/GARD/ Genetics Home Reference Website: http://www.ghr.nlm.nih. ...

  1. An adult osteopetrosis model in medaka reveals the importance of osteoclast function for bone remodeling in teleost fish.

    PubMed

    To, Thuy Thanh; Witten, Paul Eckhard; Huysseune, Ann; Winkler, Christoph

    2015-12-01

    Osteoclasts play important roles during bone growth and in maintaining bone health and bone homeostasis. Dysfunction or lack of osteoclasts leads to increased bone mass and osteopetrosis phenotypes in mouse and human. Here we report a severe osteopetrosis-like phenotype in transgenic medaka fish, in which membrane bound EGFP (mEGFP) was expressed in osteoclasts under control of the cathepsin K promoter (ctsk:mEGFP). In contrast to reporter lines with GFP expression in the cytoplasm of osteoclasts, adult fish of the mEGFP line developed bone defects indicative for an osteoclast dysfunction. Activity of tartrate-resistant acid phosphatase (TRAP) was down-regulated and excess bone was observed in most parts of the skeleton. The osteopetrotic phenotype was particularly obvious at the neural and haemal arches that failed to increase their volume in growing fish. Excess bone caused severe constriction of the spinal cord and the ventral aorta. The continuation of tooth development and the failure to shed teeth resulted in severe hyperdontia. Interestingly, at the vertebral column vertebral body arches displayed a severe osteopetrosis, while vertebral centra had no or only a mild osteopetrotic phenotype. This confirms previous reports from cichlids that, different from the arches, allometric growth of fish vertebral centra initially does not depend on the action of osteoclasts. Independent developmental mechanism that shapes arches and vertebral centra can also lend support to the hypothesis that vertebral centra and arches function as independent developmental modules. Together, this medaka osteopetrosis model confirms the importance of proper osteoclast function during normal skeletal development in teleost fish that requires bone modeling and remodeling. PMID:26334373

  2. Infantile hemangiomas: A review

    PubMed Central

    Callahan, Alison B.; Yoon, Michael K.

    2012-01-01

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

  3. Intracranial infantile hemangiopericytoma.

    PubMed

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

    2014-08-01

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

  4. Infantile perianal protrusion.

    PubMed

    Ferrari, Bruno; Taliercio, Vanina; Luna, Paula; Eugenia, Maria; Larralde, Margarita

    2015-03-01

    Infantile perianal protrusion is characterized by a skin fold located in the perianal area. It is a relatively recent reported condition and affects both infants and prepubertal children with a clear female predominance. Three types are recognized: constitutional/congenital, acquired, and associated with lichen sclerosus et atrophicus. We report eleven new cases, three of whom have the defect in locations that have been reported only once before. We would like to increase the awareness of this condition to avoid erroneous diagnostic and therapeutic procedures. PMID:25780964

  5. Pathogenesis of infantile hemangiomas.

    PubMed

    Uihlein, Lily Changchien; Liang, Marilyn G; Mulliken, John B

    2012-08-01

    1.Review the key features of the life cycle of infantile hemangiomas.2.Highlight cellular and molecular pathways involved in hemangioma-genesis.3.Discuss theories that may account for hemangioma-genesis.In the past, it was believed that a mother's visual impressions or behavior during pregnancy caused the growth of infantile hemangioma in her unborn child. She might have had an excessive craving for strawberries, witnessed the slaughter of an animal, directly contacted human or animal blood, or mocked a child with a similar birthmark.1 This folklore began to slowly fade once hemangiomas were examined through the light microscope. In 1863, Virchow2 suggested that hemangiomas are composed of proliferating new blood vessels resulting from progressive irritation of tissue. In 1933, Laidlow and Murray3 proposed a phylogenetic origin for hemangiomas and hypothesized that hemangiomas are remnants of vascular tufts functioning as accessory lungs for primitive amphibia. Pack and Miller4 (1950) hypothesized that hemangiomas develop from embryonic islands of angioblastic cells that were isolated from the systemic vasculature during fetal development. PMID:22881413

  6. Osteopetrosis in mice lacking NF-kappaB1 and NF-kappaB2.

    PubMed

    Iotsova, V; Caamaño, J; Loy, J; Yang, Y; Lewin, A; Bravo, R

    1997-11-01

    The nfkb1 and nfkb2 genes encode closely related products regulating immune and inflammatory responses. Their role during development and differentiation remains unclear. The generation of nfkb1 null mice (p50-/-) resulted in altered immune responses, but had no effect on development. Similarly, nfkb2 knockout mice (p52-/-) did not show developmental defects (J.C. et al., manuscript submitted). We have investigated the potential for in vivo compensatory functions of these genes by generating double-knockout mice. The surprising result was that the animals developed osteopetrosis because of a defect in osteoclast differentiation, suggesting redundant functions of NF-kappaB1 and NF-kappaB2 proteins in the development of this cell lineage. The osteopetrotic phenotype was rescued by bone marrow transplantation, indicating that the hematopoietic component was impaired. These results define a new mouse osteopetrotic mutant and implicate NF-kappaB proteins in bone development, raising new directions in the treatment of bone disorders. PMID:9359707

  7. Infantile spasms and HLA antigens.

    PubMed Central

    Howitz, P; Platz, P

    1978-01-01

    21 new cases of infantile spasms were reported in 1976 from paediatric departments in Denmark. The connection between infantile spasms and the Lennox-Gastaut syndrome is mentioned, because of reports of a significantly higher incidence of HLA-B7 in children with Lennox-Gastaut syndrome. The HLA antigen distribution in 19 of the 21 children was compared with that of 1967 healthy adults. No difference in the HLA antigens was demonstrated between children with infantile spasms and controls, whether in the material as a whole, or in the cryptogenic or symptomatic groups. However HLA typing of children with infantile spasms should continue in the search for a potential genetic marker in this grave disease, particularly in view of the reported high incidence of HLA-B7 in children with the Lennox-Gastaut syndrome. PMID:708109

  8. [Genetic aspects of infantile autism].

    PubMed

    Lefèvre, E; Rivière, P; Can Luong, L; Duché, D J

    1983-09-22

    The cause of infantile austism is as yet unknown. However, many studies have addressed the possibility of genetic transmission. Although a chromosomal abnormality has been outruled, an increasing number of studies in families and twins have shown that at least some symptoms of infantile autism may be transmitted genetically. However, up till now, transmission modalities and the exact nature of what is transmitted are unsure. PMID:6312601

  9. Malignant epignathus.

    PubMed

    Rayudu, Harijan Hanumantha; Reddy, Kilashnath; Lakshmi, Kasa; Varma, Santhosh

    2011-07-01

    Report of a neonate with a huge mass protruding from the oral cavity. The mass has originated from the base of the tongue. Successful excision and histopathological examination revealed it to be a malignant epignathus. PMID:21897571

  10. Malignant teratoma

    MedlinePLUS

    ... is often located in the front chest area (mediastinum). Most malignant teratomas can spread throughout the body, ... Diseases of the diaphragm, chest wall, pleura, and mediastinum. In: Goldman L, Schafer AI, eds. Goldman's Cecil ...

  11. Infantile spasms--evidence based medical management.

    PubMed

    Sahu, Jitendra Kumar

    2014-10-01

    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

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

    PubMed Central

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

    2013-01-01

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

  13. Reversible infantile mitochondrial diseases.

    PubMed

    Boczonadi, Veronika; Bansagi, Boglarka; Horvath, Rita

    2015-05-01

    Mitochondrial diseases are usually severe and progressive conditions; however, there are rare forms that show remarkable spontaneous recoveries. Two homoplasmic mitochondrial tRNA mutations (m.14674T>C/G in mt-tRNA(Glu)) have been reported to cause severe infantile mitochondrial myopathy in the first months of life. If these patients survive the first year of life by extensive life-sustaining measures they usually recover and develop normally. Another mitochondrial disease due to deficiency of the 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) causes severe liver failure in infancy, but similar to the reversible mitochondrial myopathy, within the first year of life these infants may also recover completely. Partial recovery has been noted in some other rare forms of mitochondrial disease due to deficiency of mitochondrial tRNA synthetases and mitochondrial tRNA modifying enzymes. Here we summarize the clinical presentation of these unique reversible mitochondrial diseases and discuss potential molecular mechanisms behind the reversibility. Understanding these mechanisms may provide the key to treatments of potential broader relevance in mitochondrial disease, where for the majority of the patients no effective treatment is currently available. PMID:25407320

  14. Malignant mesothelioma.

    PubMed

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

    2008-01-01

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

  15. Malignant hyperthermia.

    PubMed Central

    Ben Abraham, R.; Adnet, P.; Glauber, V.; Perel, A.

    1998-01-01

    Malignant hyperthermia is a rare autosomal dominant trait that predisposes affected individuals to great danger when exposed to certain anaesthetic triggering agents (such as potent volatile anaesthetics and succinylcholine). A sudden hypermetabolic reaction in skeletal muscle leading to hyperthermia and massive rhabdomyolysis can occur. The ultimate treatment is dantrolene sodium a nonspecific muscle relaxant. Certain precautions should be taken before anaesthesia of patients known to be susceptible to malignant hyperthermia. These include the prohibition of the use of triggering agents, monitoring of central body temperature and expired CO2, and immediate availability of dantrolene. In addition, careful cleansing of the anaesthesia machine of vapours of halogenated agents is recommended. If these measures are taken, the chances of an MH episode are greatly reduced. When malignant hyperthermia-does occur in the operating room, prompt recognition and treatment usually prevent a potentially fatal outcome. The most reliable test to establish susceptibility to malignant hyperthermia is currently the in vitro caffeine-halothane contracture test. It is hoped that in the future a genetic test will be available. PMID:9538480

  16. Hematologic malignancies

    SciTech Connect

    Hoogstraten, B.

    1986-01-01

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

  17. Infantile Hemangioma: A Brief Review

    PubMed Central

    BOTA, MADALINA; POPA, GHEORGHE; BLAG, CRISTINA; TATARU, ALEXANDRU

    2015-01-01

    Infantile hemangiomas as frequent infancy tumors have been a controversial issue of medical scientists worldwide. Their clinical aspects are various and their physiopathology is yet to be fully understood. Numerous publications outline the characteristics, causes, evolution possibilities and therapeutic approaches. Deciding whether to treat or not is the main question of this kind of pathology. Hemangiomas that have complications or can cause irreversible damage need therapy. This is a brief review of up-to-date information regarding the presentation of infantile hemangiomas and target-therapies. PMID:26528043

  18. Biology of Infantile Hemangioma

    PubMed Central

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

    2014-01-01

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

  19. Modeling new therapies for infantile spasms

    PubMed Central

    Chudomelova, Lenka; Scantlebury, Morris H.; Raffo, Emmanuel; Coppola, Antonietta; Betancourth, David; Galanopoulou, Aristea S.

    2010-01-01

    Summary Infantile spasms are the classical seizure type of West syndrome. Infantile spasms often herald a dismal prognosis, due to the high probability to evolve into intractable forms of epilepsies with significant cognitive deficits, especially if not adequately treated. The current therapies, high doses of adrenocorticotropic hormone, steroids or the GABA transaminase inhibitor vigabatrin, are often toxic and may not always be effective. The need to identify new therapies for spasms has led to the generation of a number of rodent models of infantile spasms. These include acute and chronic models of infantile spasms, with cryptogenic or symptomatic origin, many of which are based on specific etiologies. In this review, we will summarize the clinical experience with treating infantile spasms, the main features of the new animal models of infantile spasms and discuss their utility in the preclinical development of new therapies for infantile spasms. PMID:20618396

  20. Elevated serum levels of creatine kinase BB in autosomal dominant osteopetrosis type II--a family study.

    PubMed

    Yoneyama, T; Fowler, H L; Pendleton, J W; Sforza, P P; Gerard, R D; Lui, C Y; Eldridge, T H; Iranmanesh, A

    1992-07-01

    A markedly elevated BB isoenzyme fraction of serum creatine kinase was noted in four male siblings and correlated with typical radiographic findings of autosomal dominant osteopetrosis Type II (ADO Type II). Patients with other sclerosing bone diseases had no elevation of CK-BB. The precision of the electrophoretic mobility patterns and correlation by I-125 tagged radioimmunoassay method confirms that this is CK-BB. We postulate that the dysfunctional and/or immature osteoclasts in ADO are more dependent on CK-BB than on the usual tricarboxylic acid cycle for the production of energy. The correlation of marked elevation of serum CK-BB with radiographic evidence of ADO Type II may prove to be of value as a biologic marker in the early diagnosis of the illness and lead to better understanding of the metabolism of bone. PMID:1516225

  1. Long-Term Follow-Up of Bimaxillary Osteomyelitis Associated with Autosomal Dominant Osteopetrosis: A Case Report.

    PubMed

    Kulyapina, A; Verdaguer Martin, J; Navarro Cuellar, C; Navarro Vila, C

    2016-03-01

    Osteopetrosis (OP) is a rare metabolic bone disease characterized by a generalized increase in skeletal mass. The disease is characterized by increased susceptibility to develop osteomyelitis of the jaws. We report a case of clinical and radiological progression of bimaxillary osteomyelitis in a patient with autosomal dominant OP. The patient presented non simultaneous osteomyelitis in both upper and lower jaws with time interval of 10 years. The osteomyelitis of maxilla resulted in oroantral fistula formation and required surgical closure with Bichat fat pad flap. The mandibular osteomyelitis resulted in sequestra formation and pathological fracture and required multiple debridement procedures. Both maxillary and mandibular osteomyelitic foci were persistent and healing required more than 2 years. The case confirms the possibility of development of non simultaneous bimaxillary osteomyelitis in patients with OP. The case enhances the need of close follow- up and preventive measures in patients with OP. PMID:26929564

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

    MedlinePLUS

    ... disorder catalog Conditions > Infantile-onset ascending hereditary spastic paralysis On this page: Description Genetic changes Inheritance Diagnosis ... 2007 What is infantile-onset ascending hereditary spastic paralysis? Infantile-onset ascending hereditary spastic paralysis is a ...

  3. 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 ...

  4. Genetics Home Reference: X-linked infantile spasm syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > X-linked infantile spasm syndrome On this page: Description ... names Glossary definitions Reviewed August 2012 What is X-linked infantile spasm syndrome? X-linked infantile spasm ...

  5. Concomitant anterior and posterior infantile perianal protrusions.

    PubMed

    Leung, Alexander K C

    2010-02-01

    Infantile perianal protrusion is characterized by asymptomatic pyramidal protrusion with a rose-red or purplish red surface along the midline, usually anterior to the anus. The protrusion is usually solitary. Two girls are reported with concomitant anterior and posterior infantile perianal pyramidal protrusions and a history of constipation. The occurrence of concomitant anterior and posterior infantile perianal pyramidal protrusions has not been reported previously. PMID:20191927

  6. Malignant hyperthermia.

    PubMed

    Kim, Dong-Chan

    2012-11-01

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

  7. Infantile masturbation and paroxysmal disorders.

    PubMed

    Omran, Mohammadreza Salehi; Ghofrani, Mohammad; Juibary, Ali Ghabeli

    2008-02-01

    A recurrent paroxysmal presentation in children leads to different diagnoses and among them are neurologic and cardiac etiologies. Infantile masturbation is not a well known entity and cannot be differentiated easily from other disorders. Aim of this study is to elucidate and differentiate this condition from epileptic seizures. We report 3 cases of 10 to 30 mth old girls of infantile masturbation that their symptoms initiated at 2, 3 and 8 mth of age. These present with contraction and extension of lower extremities, scissoring of legs, perspiration, changing face color. In 2 cases body rocking and legs rubbing initiated then there after. Masturbation is one of the paroxysmal non-epileptic conditions of early infancy and is in differential diagnosis of epileptic seizures. PMID:18334803

  8. Scurvy in infantile tremor syndrome.

    PubMed

    Ratageri, Vinod H; Shepur, T A; Patil, M M; Hakeem, M A

    2005-10-01

    Infantile Tremor Syndrome is a distinct clinical entity most commonly seen in Indian Subcontinent. Syndrome consists of tremors, mental and developmental retardation, abnormal skin pigmentation and anemia in children between 6 months to 2 years. The etiology is still elusive. Amongst various theories, nutritional theory is the most accepted. So far there are no cases reported of vitamin C deficiency in ITS. In this article, three cases of ITS associated with vitamin C deficiency are reported. PMID:16272666

  9. Infantile colic, facts and fiction

    PubMed Central

    2012-01-01

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

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

    SciTech Connect

    Sorensen, Karina Dalsgaard; Sorensen, Annette Balle; Quintanilla-Martinez, Leticia; Kunder, Sandra; Schmidt, Joerg; Pedersen, Finn Skou . E-mail: fsp@mb.au.dk

    2005-04-10

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

  11. Malignant hyperthermia.

    PubMed

    Bandschapp, Oliver; Girard, Thierry

    2012-01-01

    Malignant hyperthermia (MH) is a subclinical myopathy, usually triggered by volatile anaesthetics and depolarising muscle relaxants. Clinical symptoms are variable, and the condition is sometimes difficult to identify. Nevertheless, rapid recognition and specific as well as symptomatic treatment are crucial to avoid a lethal outcome. Molecular genetic investigations have confirmed the skeletal muscle type ryanodine receptor to be the major MH locus with more than 70% of MH families carrying a mutation in this gene. There is no screening method to test for MH, as current tests are invasive (open muscle biopsy) or restricted to MH families with known MH-associated mutations (molecular genetic testing). The prevalence of the MH trait is unknown, because the clinical penetrance after contact with triggering agents is very variable. More recently, MH mutations have been associated with rhabdomyolysis following statin therapy or with non-pharmacological triggering, such as exertional heat stroke. PMID:22851008

  12. Malignant mesothelioma

    PubMed Central

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

    2013-01-01

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

  13. [Malignant melanoma].

    PubMed

    Champeau, F; Verola, O

    1998-08-01

    Malignant melanoma is the most serious skin tumor and its incidence is doubling every ten years. Ultraviolet rays represent the main environmental cause of melanoma. Among the constitutional factors identified, two clinicopathological forms of naevus are considered to be important epidemiological precursors: acquired dysplastic naevi and congenital giant naevi. Four clinical and histological types are distinguished: SSM (Superficial Spreading Melanoma), NM (Nodular Melanoma), LMM (Lentigo Maligna Melanoma), arising from Dubreuilh melanosis, ALM (Acral Lentiginous Melanoma). Thickness constitutes the essential prognostic factor. Clinical examination is the only recommended standard assessment. Chest x-ray is useful, and acts as a reference for subsequent follow-up. Other complementary investigations are requested as a function of clinical signs. Treatment is exclusively surgical. The lateral resection margins are 0.5 cm for melanoma in situ, 1 cm for melanomas less than 1 mm thick, 2 cm for melanomas between 1 and 4 mm thick, and 3 cm for melanomas thicker than 4 mm. Chemotherapy is mainly used in the treatment of metastatic melanoma. There is no indication for radiotherapy apart from palliative treatment of nonsurgical metastases. New therapies such as immunotherapy and gene therapy are under investigation. PMID:9926473

  14. [Malignant hyperthermia].

    PubMed

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

    2014-12-01

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

  15. Retrovirus-induced osteopetrosis in mice. Effects of viral infection on osteogenic differentiation in skeletoblast cell cultures.

    PubMed Central

    Schmidt, J.; Casser-Bette, M.; Murray, A. B.; Luz, A.; Erfle, V.

    1987-01-01

    Newborn female strain NMRI mice were injected with a mouse retrovirus (OA MuLV) known to induce osteopetrosis. Primary skeletoblast cell cultures were established from humeri and calvaria of 3-day-old, 7-day-old, and 28-day-old animals. Infectious ecotropic MuLV was found in all humerus cultures from infected animals and in 7-day and 28-day calvaria cell cultures. Levels of alkaline phosphatase activity were markedly higher in cultures of calvaria and humeri from infected mice than in those from controls. In vitro infection of undifferentiated periosteal cells was followed by a decrease in cell growth and an increase in alkaline phosphatase activity. In contrast, differentiated osteoblast-like cells were barely susceptible to OA MuLV infection, and the virus did not influence their cell growth or differentiation. Electron-microscopic studies of skeletal tissue from infected old osteopetrotic mice showed virus particles associated with and budding from osteocytes and accumulated in devitalized osteocyte lacunae. The results indicate that progenitor cells of the osteoblastic lineage represent the target cells for OA MuLV in bone tissue, that virus infection induces an increase in osteoblastic activity, and that infected cells produce virus until full development of the disease. Images Figure 1 Figure 2 Figure 5 PMID:2827489

  16. Placental anomalies in children with infantile hemangioma.

    PubMed

    López Gutiérrez, Juan Carlos; Avila, Luis Felipe; Sosa, Grevelyn; Patron, Mercedes

    2007-01-01

    Evaluation of the placenta provides some important insights into pathophysiologic changes that take place during the prenatal and intrapartum process. We investigated the pathogenic significance of placental features and their relationship to the development of infantile hemangioma in order to obtain a better understanding of its cause. Placental specimens were reviewed from 26 singleton pregnancies of women whose offspring weighed less than 1500 g. A group of 13 neonates who developed infantile hemangioma in the immediate neonate period were compared with 13 healthy preterm infants of comparable postconception age who had no infantile hemangioma. Pathologic placental changes were analyzed in both groups. Gross lesions with disturbance of the utero-placental circulation were found in all placentas from children who developed infantile hemangioma, including massive retroplacental hematoma in two infants, extensive ischemic infarction in seven, and large dilatated vascular communications, severe vasculitis, chorioamnionitis and funiculitis in four. Placental features included percentages greater than 25% of avascular villi, platelet and fibrin aggregates, and multifocal disease involving more than one histologic section. Examination of 13 placentas of low-birth-weight infants without infantile hemangioma only showed abnormal placentation in one and isolated villous dismaturity in two. The higher ratio of placental pathologic findings in patients with infantile hemangioma suggests that reduced placental oxygen diffusive conductance contributes to fetal hypoxic stress and that hypoxic/ischemic changes in the placenta could be related to infantile hemangioma development via vascular endothelial growth factor and placental growth factor expression, among others, within the villious vessels and throphoblasts. PMID:17845154

  17. Practice Parameter: Medical Treatment of Infantile Spasms

    PubMed Central

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

    2010-01-01

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

  18. Signaling mechanisms in infantile hemangioma

    PubMed Central

    Boye, Eileen; Olsen, Bjorn R.

    2010-01-01

    Purpose of review Infantile hemangioma is a common vascular tumor with a unique lifecycle: rapid growth in infancy, followed by a period of involution, leading to complete regression. This review summarizes recent studies of molecular mechanisms of hemangioma formation and places new findings and hypotheses in the context of past accomplishments. Recent findings The new work identifies a novel signaling pathway for vascular growth factor and extracellular matrix regulation in vascular endothelial cells and provides a basis for novel therapeutic strategies. In hemangioma-derived endothelial cells defects in a vascular endothelial growth factor receptor/integrin complex reduce the expression of a vascular endothelial growth factor decoy receptor. As a consequence, hemangioma endothelial cells exhibit constitutive vascular endothelial growth factor signaling. Germ-line mutations in components of the growth factor receptor/integrin complex in some hemangioma patients, and somatic mutations in a phosphatase in sporadic hemangioma specimens, raise the possibility that hemangioma formation involves a combination of germline risk factor mutations and somatic mutations, similar to what recent studies have shown is the case for venous malformations. Summary Alterations in pathways that negatively control vascular endothelial growth factor signaling in vascular endothelial cells are responsible for the formation and rapid growth of infantile hemangiomas. PMID:19367160

  19. Infantile Colic: Recognition and Treatment.

    PubMed

    Johnson, Jeremy D; Cocker, Katherine; Chang, Elisabeth

    2015-10-01

    Infantile colic is a benign process in which an infant has paroxysms of inconsolable crying for more than three hours per day, more than three days per week, for longer than three weeks. It affects approximately 10% to 40% of infants worldwide and peaks at around six weeks of age, with symptoms resolving by three to six months of age. The incidence is equal between sexes, and there is no correlation with type of feeding (breast vs. bottle), gestational age, or socioeconomic status. The cause of infantile colic is not known; proposed causes include alterations in fecal microflora, intolerance to cow's milk protein or lactose, gastrointestinal immaturity or inflammation, increased serotonin secretion, poor feeding technique, and maternal smoking or nicotine replacement therapy. Colic is a diagnosis of exclusion after a detailed history and physical examination have ruled out concerning causes. Parental support and reassurance are key components of the management of colic. Simethicone and proton pump inhibitors are ineffective for the treatment of colic, and dicyclomine is contraindicated. Treatment options for breastfed infants include the probiotic Lactobacillus reuteri (strain DSM 17938) and reducing maternal dietary allergen intake. Switching to a hydrolyzed formula is an option for formula-fed infants. Evidence does not support chiropractic or osteopathic manipulation, infant massage, swaddling, acupuncture, or herbal supplements. PMID:26447441

  20. Malignant hyperthermia

    PubMed Central

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

    2007-01-01

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

  1. Refined genomic localization of the genetic lesion in the osteopetrosis (op) rat and exclusion of three positional and functional candidate genes, Clcn7, Atp6v0c, and Slc9a3r2.

    PubMed

    Perdu, B; Odgren, P R; Van Wesenbeeck, L; Jennes, K; Mackay, C C; Van Hul, W

    2009-05-01

    Osteopetrosis is a disease characterised by a generalized skeletal sclerosis resulting from a reduced osteoclast-mediated bone resorption. Several spontaneous mutations lead to osteopetrotic phenotypes in animals. Moutier et al. (1974) discovered the osteopetrosis (op) rat as a spontaneous, lethal, autosomal recessive mutant. op rats have large nonfunctioning osteoclasts and severe osteopetrosis. Dobbins et al. (2002) localized the disease-causing gene to a 1.5-cM genetic interval on rat chromosome 10, which we confirm in the present report. We also refined the genomic localization of the disease gene and provide statistical evidence for a disease-causing gene in a small region of rat chromosome 10. Three strong functional candidate genes are within the delineated region. Clcn7 was previously shown to underlie different forms of osteopetrosis, in both human and mice. ATP6v0c encodes a subunit of the vacuolar H(+)-ATPase or proton pump. Mutations in TCIRG1, another subunit of the proton pump, are known to cause a severe form of osteopetrosis. Given the critical role of proton pumping in bone resorption, the Slc9a3r2 gene, a sodium/hydrogen exchanger, was also considered as a candidate for the op mutation. RT-PCR showed that all 3 genes are expressed in osteoclasts, but sequencing found no mutations either in the coding regions or in intron splice junctions. Our ongoing mutation analysis of other genes in the candidate region will lead to the discovery of a novel osteopetrosis gene and further insights into osteoclast functioning. PMID:19259722

  2. Genetics Home Reference: Infantile neuroaxonal dystrophy

    MedlinePLUS

    ... in breaking down (metabolizing) fats called phospholipids. Phospholipid metabolism is important for many body processes, including helping ... signs and symptoms of infantile neuroaxonal dystrophy, phospholipid metabolism problems have been seen in both this disorder ...

  3. Genetics Home Reference: Infantile systemic hyalinosis

    MedlinePLUS

    ... and internal organs. Hyalinosis refers to the abnormal accumulation of a clear (hyaline) substance in body tissues. ... of infantile systemic hyalinosis are caused by the accumulation of a hyaline substance in different parts of ...

  4. Early Infantile Autism and Autistic Psychopathy

    ERIC Educational Resources Information Center

    Van Krevelen, D. Arn

    1971-01-01

    The paper tries to assign to autistic psychopathy a definite place in psychiatric nosology and to delineate sharply the differences between the essential characteristics of it and of early infantile autism. (Author)

  5. Infantile myofibromatosis: report of nine patients.

    PubMed

    Larralde, Margarita; Hoffner, Mariana V; Boggio, Paula; Abad, María Eugenia; Luna, Paula C; Correa, Noemí

    2010-01-01

    Infantile myofibromatosis is a rare fibrous tumor of infancy that can be solitary or multiple. Although most of the cases are limited to the skin, in some instances systemic involvement can be present. Solitary tumors limited to the skin usually present a good prognosis with spontaneous regression. We performed a retrospective observational review of the clinical and pathologic characteristics of nine patients diagnosed as having infantile myofibromatosis, followed during a 10-year period in a Pediatric Dermatology Department. PMID:20199406

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

    PubMed Central

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

    2014-01-01

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

  7. Pediatric Salivary Gland Malignancies.

    PubMed

    Ord, Robert A; Carlson, Eric R

    2016-02-01

    Pediatric malignant salivary gland tumors are extremely rare. The percentage of malignant tumors is higher than that seen in adults, although the outcomes in terms of survival are better in pediatric patients. The mainstay of treatment is surgical excision with negative margins. This article reviews current concepts in demographics, etiology, management, and outcomes of malignant salivary tumors in children. PMID:26614703

  8. Extraocular Muscles in Patients With Infantile Nystagmus

    PubMed Central

    Berg, Kathleen T.; Hunter, David G.; Bothun, Erick D.; Antunes-Foschini, Rosalia; McLoon, Linda K.

    2013-01-01

    Objective To test the hypothesis that the extraocular muscles (EOMs) of patients with infantile nystagmus have muscular and innervational adaptations that may have a role in the involuntary oscillations of the eyes. Methods Specimens of EOMs from 10 patients with infantile nystagmus and postmortem specimens from 10 control subjects were prepared for histologic examination. The following variables were quantified: mean myofiber cross-sectional area, myofiber central nucleation, myelinated nerve density, nerve fiber density, and neuromuscular junction density. Results In contrast to control EOMs, infantile nystagmus EOMs had significantly more centrally nucleated myofibers, consistent with cycles of degeneration and regeneration. The EOMs of patients with nystagmus also had a greater degree of heterogeneity in myofiber size than did those of controls, with no difference in mean myofiber cross-sectional area. Mean myelinated nerve density, nerve fiber density, and neuromuscular junction density were also significantly decreased in infantile nystagmus EOMs. Conclusions The EOMs of patients with infantile nystagmus displayed a distinct hypoinnervated phenotype. This represents the first quantification of changes in central nucleation and myofiber size heterogeneity, as well as decreased myelinated nerve, nerve fiber, and neuromuscular junction density. These results suggest that deficits in motor innervation are a potential basis for the primary loss of motor control. Clinical Relevance Improved understanding of the etiology of nystagmus may direct future diagnostic and treatment strategies. PMID:22411664

  9. Anogenital malignancies and pre-malignancies.

    PubMed

    Henquet, C J M

    2011-08-01

    Anogenital pre-malignancies and malignancies are frequently encountered. Aetiopathogenetically, human papillomavirus (HPV) infection plays a critical role. However, there is a variable degree of association of HPV infection with the development of anogenital malignancies. In this context, the high level of clinically unapparent HPV infection should be considered. Therefore, the question arises if the association with HPV is always causative. Besides HPV, pre-existent lichen sclerosus is also an important aetiopathologic factor in the development of anogenital malignancies. Common anogenital pre-malignancies comprise Bowen's disease (BD), Bowenoid papulosis (BP) and erythroplasia of Queyrat (EQ). From a clinical point of view, these are clearly different entities, but from a histopathological point of view, BD, BP and EQ are indistinguishable. They all represent forms of squamous intraepithelial neoplasia (IN). Intraepithelial neoplasia (IN) is not only restricted to squamous variants, but also includes non-squamous IN, Paget's disease (PD) and melanoma in situ. The risk of developing anogenital (pre)malignancies or other tumours is higher in immunocompromised and immunodeficient patients, in particular those suffering from human immunodeficiency virus (HIV) infection. Such risk factors will affect treatment and follow-up modalities. Regarding prophylactic measures, a relatively recent but very important development is the availability of HPV vaccination on a large scale. Momentarily, the effects of such vaccination, on a population-based scale, are not yet clear but will become apparent in the near future. Management of anogenital pre-malignancies and malignancies should be tailor-made and may be organized in a multidisciplinary fashion. PMID:21272092

  10. Infantile Spasm: A Review Article

    PubMed Central

    TAGHDIRI, Mohammad Mahdi; NEMATI, Hamid

    2014-01-01

    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

  11. [Maternal conceptions of infantile diarrhea

    PubMed

    Feliciano, K V; Kovacs, M H

    2001-01-01

    OBJECTIVE: To understand maternal conceptions of infantile diarrhea, encouraging reflection on the importance of communication between mothers and health services. METHODS: Survey carried out in selected areas of six towns in the state of Pernambuco, all of which participated in the diarrhea control project coordinated by the State Health Secretariat. The information was obtained through interviews with 770 mothers, producing a representative sample of 1,026 children younger than five years. RESULTS: In general, mothers associated the occurrence of diarrhea with some kinds of food (fatty or undercooked). Better educated mothers, regardless of their place of residence, attributed it to improper hygiene and sanitation, whereas illiterate and poorly educated mothers, from the metropolitan region of Recife, blamed it on hot weather, and those living in the countryside believe the occurrence of diarrhea is related to teething. Circa 24.2% (63.4% living in the countryside) do not know how to prevent the disease. The two preventive measures most frequently adopted consist in drinking treated water and cooking food thoroughly. Only 0.5% mentioned breast-feeding. The number of children still alive and their ages influence maternal conceptions. The main sources of information about the prevention of diarrhea are the support network (45.5%), the health sector (35.9%) and the media (33.2%). CONCLUSIONS: The insufficient participation of the health sector in the information network about diarrhea, misinformation, and sharp disagreement over maternal conceptions and technical knowledge, which are the cornerstone of institutional measures, show that it is necessary to value the communicative dimension of the educational approach in child care. PMID:14647829

  12. Current trends in the treatment of infantile spasms

    PubMed Central

    Tsao, Chang-Yong

    2009-01-01

    Infantile spasms are an epilepsy syndrome with distinctive features, including age onset during infancy, characteristic epileptic spasms, and specific electroencephalographic patterns (interictal hypsarrhythmia and ictal voltage suppression). Adrenocorticotropic hormone (ACTH) was first employed to treat infantile spasms in 1958, and since then it has been tried in prospective and retrospective studies for infantile spasms. Oral corticosteroids were also used in a few studies for infantile spasms. Variable success in cessation of infantile spasms and normalization of electroencephalograms was demonstrated. However, frequent significant adverse effects are associated with ACTH and oral corticosteroids. Vigabatrin has been used since the 1990s, and shown to be successful in resolution of infantile spasms, especially for infantile spasms associated with tuberous sclerosis. It is associated with visual field constriction, which is often asymptomatic and requires perimetric visual field study to identify. When ACTH, oral corticosteroids, and vigabatrin fail to induce cessation of infantile spasms, other alternative treatments include valproic acid, nitrazepam, pyridoxine, topiramate, zonisamide, lamotrigine, levetiracetam, felbamate, ganaxolone, liposteroid, thyrotropin-releasing hormone, intravenous immunoglobulin and a ketogenic diet. Rarely, infantile spasms in association with biotinidase deficiency, phenylketonuria, and pyridoxine-dependent seizures are successfully treated with biotin, a low phenylalanine diet, and pyridoxine, respectively. For medically intractable infantile spasms, some properly selected patients may have complete cessation of infantile spasms with appropriate surgical treatments. PMID:19557123

  13. Rheumatic Diseases and Malignancies

    PubMed Central

    BOJINCA, Violeta; JANTA, Iustina

    2012-01-01

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

  14. Control of bone resorption by hematopoietic tissue. The induction and reversal of congenital osteopetrosis in mice through use of bone marrow and splenic transplants

    PubMed Central

    1975-01-01

    The reciprocal transplantation of hematopoietic tissues was carried out on young, lethally irradiated mice of inbred, microphthalmic stock. The cell infusions prepared from the bone marrow or spleen of a normal littermate fully restored capacity to resorb bone and cartilage in the osteopetrotic recipients. Conversely, cell infusions prepared from the spleen of microphthalmic mice induced osteopetrosis in their irradiated, normal littermates. It is concluded that resorption of skeletal matrix is controlled by migratory cells, possibly osteoclastic progenitors, derived from the myelogenous tissues. No evidence was obtained to suggest that skeletal changes observed in the experimental animals were mediated by a graft-vs.-host reaction. The earliest skeletal changes in the experimental mice were detected 2 wk after onset which may represent the length or time required to replace the osteoclast population of the mouse. PMID:1100763

  15. Hirschsprung's disease with infantile nephropathic cystinosis.

    PubMed

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

    2015-01-01

    The case of a 3-year-old boy diagnosed to have Hirschsprung's disease with infantile nephropathic cystinosis is being reported. Both these conditions are etiologically and genetically different as per current understanding and available information. The association is incidental and has not reported before in the English literature. PMID:26166990

  16. Hirschsprung's disease with infantile nephropathic cystinosis

    PubMed Central

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

    2015-01-01

    The case of a 3-year-old boy diagnosed to have Hirschsprung's disease with infantile nephropathic cystinosis is being reported. Both these conditions are etiologically and genetically different as per current understanding and available information. The association is incidental and has not reported before in the English literature. PMID:26166990

  17. Infantile Amnesia: Forgotten but Not Gone

    ERIC Educational Resources Information Center

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

    2014-01-01

    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…

  18. Infantile Amnesia: Forgotten but Not Gone

    ERIC Educational Resources Information Center

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

    2014-01-01

    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…

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

    PubMed

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

    2012-02-15

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

  20. Malignancies After Heart Transplant.

    PubMed

    Lateef, Noman; Abdul Basit, Kalid; Abbasi, Nadeem; Kazmi, Syed Murtaza Hasan; Ansari, Abdul Basit; Shah, Mudassir

    2016-02-01

    Along with graft vasculopathy, malignancies comprise a major complication after heart transplant, with a rate of occurrence of 39.1% in 10 years. Skin cancers and posttransplant lymphoproliferative disorder are more common in adults, whereas lymphoma is more often shown in children. A major cause of malignancies after heart transplant is the use of increased doses of prophylactics needed during immunosuppressive therapy. Data, however, are scarce regarding the association between a particular immunosuppressive drug and a posttransplant malignancy. Compared with the general population, recipients have a higher incidence of malignancies after heart transplant, with an early onset and more aggressive disease. Solid tumors known to occur in heart transplant recipients include lung cancer, bladder and prostate carcinoma, adenocarcinoma of the oral cavity, stomach cancer, and bowel cancer, although the incidence is rare. The risk factors for development of a malignancy after heart transplant are the same as for the nontransplant population. PMID:26643469

  1. Genetics Home Reference: Osteopetrosis

    MedlinePLUS

    ... bones pinch nerves in the head and face (cranial nerves), often resulting in vision loss, hearing loss, and ... bone marrow ; bone remodeling ; calcium ; cell ; chromosome ; congenital ; cranial nerves ; disability ; dysplasia ; epilepsy ; gene ; hepatosplenomegaly ; immune system ; immunodeficiency ; ...

  2. Association between infantile spasms and nonaccidental head injury.

    PubMed

    Birca, Ala; D'Anjou, Guy; Carmant, Lionel

    2014-05-01

    Infantile spasms constitute a severe epileptic encephalopathy of infancy with poor long-term developmental outcome. Many diverse etiologies have been associated with infantile spasms, but the pathophysiological process is still not fully understood. We describe 2 cases of previously healthy 1- and 3-month-old infants who suffered a nonaccidental head injury with extensive cerebral lesions. Both presented with acute focal seizures rapidly controlled with phenobarbital. Nevertheless, they developed infantile spasms after a latency period of 3-4 months. Spasms were rapidly controlled with vigabatrin. Both children manifested with developmental delay, either exacerbated (case 1) or elicited (case 2) by infantile spasms. Our report highlights nonaccidental head injury as a risk factor for developing infantile spasms following a seizure-free latency period. A better understanding of the pathophysiology linking accidental brain trauma with infantile spasms could lead to more effective neuroprotective strategies. In the meantime, increased awareness and follow-up are warranted. PMID:23580697

  3. Malignant liver tumors.

    PubMed

    Honeyman, Joshua N; La Quaglia, Michael P

    2012-08-01

    Malignant tumors of the liver comprise a relatively small fraction of the total number of pediatric malignancies. However, these tumors can be a significant cause of morbidity and mortality, and there have been significant therapeutic gains during the past few decades through advances in systemic therapy and surgical treatment. Even in patients with advanced local disease, complete resection is now a possibility because of improvements in liver transplantation techniques. In this review, we will discuss the staging and treatment of common malignant tumors of the liver. PMID:22800977

  4. Malignant melanoma maxilla

    PubMed Central

    Devi, Seema; Sinha, Richi; Singh, Rakesh Kumar

    2015-01-01

    A malignant melanoma is a highly lethal melanocytic neoplasm. A neoplasm usually affects the skin. Malignant melanomas in the head and neck region are rare, accounting for less than 1% of all melanomas. Malignant melanoma of the nose and paranasal sinuses is an aggressive disease typically presenting at an advanced stage, with a 5-year survival rate ranging 20-30%. Melanomas are tumors arising from melanocytes, which are neuroectodermally derived cells located in the basal layers of the skin. This is a case report of a 35-year-old male, who presented with very aggressive disease and developed liver metastasis.

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

    PubMed Central

    Avery, A A

    1999-01-01

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

  6. Infantile systemic hyalinosis in identical twins.

    PubMed

    Koonuru, Mahesh Kumar; Venugopal, Satya Prasad

    2015-11-01

    Infantile systemic hyalinosis (ISH) is a rare disorder belonging to the heterogeneous group of genetic fibromatoses. It is a rare, progressive, fatal autosomal recessive condition characterized by widespread deposition of hyaline material in many tissues caused by mutations in the anthrax toxin receptor 2 gene - ANTXR2. It presents hyperpigmented skin over bony prominences. Characteristic purplish patches develop over the medial and lateral malleoli of the ankles, the metacarpophalangeal joints, spine and elbows, with progressive joint contractures, osteopenia, skin abnormalities and chronic severe pain. The present case reports the occurrence of infantile systemic hyalinosis in twin brothers five months of age who had come for early intervention for joint contractures representing characteristic brownish patches over bony prominences. ISH cases reported until this date have been less than 20 and the present case is unique in nature since this is the first time ISH is reported in twins globally and the symptoms have been identified at an early age. PMID:26668783

  7. Infantile systemic hyalinosis in identical twins

    PubMed Central

    Koonuru, Mahesh Kumar; Venugopal, Satya Prasad

    2015-01-01

    Summary Infantile systemic hyalinosis (ISH) is a rare disorder belonging to the heterogeneous group of genetic fibromatoses. It is a rare, progressive, fatal autosomal recessive condition characterized by widespread deposition of hyaline material in many tissues caused by mutations in the anthrax toxin receptor 2 gene - ANTXR2. It presents hyperpigmented skin over bony prominences. Characteristic purplish patches develop over the medial and lateral malleoli of the ankles, the metacarpophalangeal joints, spine and elbows, with progressive joint contractures, osteopenia, skin abnormalities and chronic severe pain. The present case reports the occurrence of infantile systemic hyalinosis in twin brothers five months of age who had come for early intervention for joint contractures representing characteristic brownish patches over bony prominences. ISH cases reported until this date have been less than 20 and the present case is unique in nature since this is the first time ISH is reported in twins globally and the symptoms have been identified at an early age. PMID:26668783

  8. Infantile Spasms: Little Seizures, BIG Consequences

    PubMed Central

    Shields, W Donald

    2006-01-01

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

  9. Idiopathic infantile arterial calcification: unusual features.

    PubMed

    Vera, J; Lucaya, J; Garcia Conesa, J A; Aso, C; Balaguer, A

    1990-01-01

    Idiopathic infantile arterial calcification (IIAC) is a rare disease of unknown etiology, which causes widespread arterial calcification and usually leads to early death from coronary arterial occlusion. Periarticular calcification has been reported in some cases. Two new cases are reported. In addition to the usual features of the disease, one was found to have ear-lobe calcification and the other an aortic aneurysm and coarctation of the aorta. Therapy with diphosphonate was apparently successful in one patient. PMID:2251001

  10. Chemoembolization of hepatic malignancy.

    PubMed

    Gonsalves, Carin F; Brown, Daniel B

    2009-01-01

    Treatment of primary and secondary hepatic malignancies with transarterial chemoembolization represents an essential component of interventional oncology. This article discusses patient selection, procedure technique, results, and complications associated with transarterial chemoembolization. PMID:18668189

  11. Brain Malignancies Steering Committee

    Cancer.gov

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

  12. Gynecologic malignancy in pregnancy

    PubMed Central

    Ji, Yong Il

    2013-01-01

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

  13. Gastrointestinal Malignancies Faculty

    Cancer.gov

    1) Promote collaborative interactions among NCI basic, epidemiological, translational, and clinical investigators who conduct research in gastrointestinal malignancies; and 2) Facilitate the development of new prevention, diagnosis, and treatment options

  14. Thoracic Malignancy Steering Committee

    Cancer.gov

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

  15. Gastrointestinal Malignancies Faculty

    Cancer.gov

    Mission Statement The Gastrointestinal Malignancies Faculty (GMF) facilitates interactions among basic, epidemiological, translational, and clinical researchers promoting a community of investigators working together for the prevention, diagnosis, and cur

  16. Asbestos-related malignancy

    SciTech Connect

    Antmann, K.; Aisner, J.

    1986-01-01

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

  17. Sorafenib Tosylate in Treating Patients With Malignant Mesothelioma.

    ClinicalTrials.gov

    2013-06-04

    Epithelial Mesothelioma; Recurrent Malignant Mesothelioma; Sarcomatous Mesothelioma; Stage IA Malignant Mesothelioma; Stage IB Malignant Mesothelioma; Stage II Malignant Mesothelioma; Stage III Malignant Mesothelioma; Stage IV Malignant Mesothelioma

  18. Malignant Tourette syndrome.

    PubMed

    Cheung, Min-Yuen Cynthia; Shahed, Joohi; Jankovic, Joseph

    2007-09-15

    The aim of this work was to draw attention to potentially life-threatening symptoms associated with Tourette syndrome (TS) and to explore their relationship to TS comorbidities. Medical records of all patients with TS evaluated at our Movement Disorders Clinic between July 2003 and July 2006 were reviewed. Data on patients with malignant TS, defined as >or=2 emergency room (ER) visits or >or=1 hospitalizations for TS symptoms or its associated behavioral comorbidities, were entered into a dataset and analyzed. Five illustrative cases are described. Of 333 TS patients evaluated during the 3-year period, 17 (5.1%) met the criteria for malignant TS. Hospital admission or ER visits were for tic-related injuries, self-injurious behavior (SIB), uncontrollable violence and temper, and suicidal ideation/attempts. Compared with patients with nonmalignant TS, those with malignant TS were significantly more likely to have a personal history of obsessive compulsive behavior/disorder (OCB/OCD), complex phonic tics, coprolalia, copropraxia, SIB, mood disorder, suicidal ideation, and poor response to medications. Although TS is rarely a disabling disorder, about 5% of patients referred to a specialty clinic have life-threatening symptoms. Malignant TS is associated with greater severity of motor symptoms and the presence of >or=2 behavioral comorbidities. OCD/OCB in particular may play a central role in malignant TS; obsessive compulsive qualities were associated with life-threatening tics, SIB, and suicidal ideation. Malignant TS is more refractory to medical treatment than nonmalignant TS. PMID:17566119

  19. Malignancy-associated pruritus.

    PubMed

    Rowe, B; Yosipovitch, G

    2016-01-01

    Malignancy-associated pruritus can be the result of a neoplasm's local effect on tissue or due to the systemic reaction to malignancy. A systemic reaction to malignancy has been termed 'paraneoplastic itch' and can be the first sign of an underlying malignancy. Paraneoplastic itch is most commonly caused by lymphoproliferative malignancies, and severity of itch correlates with stage of disease in Hodgkin's lymphoma and polycythemia vera. Non-melanoma skin cancer is the most common type of malignancy-associated pruritus, and recent data indicate that pruritus is associated with more than one-third of non-melanoma skin cancers. Cutaneous T-cell lymphomas (CTCL), particularly more advanced stages, cause intractable pruritus and recent investigations into the pathophysiology of CTCL-associated itch have implicated cyotokine interleukin-31 as a putative mediator. Treatments that reduce itch in CTCL patients, such as histone deacetylase inhibitors (HDACi), Mogamulizumab, a novel monoclonal antibody against chemokine receptor type-4, and oral corticosteroids, have demonstrated a correlation between their anti-pruritic effect and reduced serum levels of interleukin-31. PMID:26416212

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

    PubMed

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

    2014-09-01

    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

  1. Physiological Regulation and Infantile Anorexia: A Pilot Study

    ERIC Educational Resources Information Center

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

    2004-01-01

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

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

    ERIC Educational Resources Information Center

    Pellock, John M.; O'Hara, Kathryn

    2011-01-01

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

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

    ERIC Educational Resources Information Center

    Skager, Rodney

    2009-01-01

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

  4. Genetics Home Reference: X-linked infantile spasm syndrome

    MedlinePLUS

    ... are related to X-linked infantile spasm syndrome? X-linked infantile spasm syndrome is caused by mutations in either the ARX gene or the CDKL5 gene. The proteins produced from these genes play a role in the normal functioning of the ...

  5. Physiological Regulation and Infantile Anorexia: A Pilot Study

    ERIC Educational Resources Information Center

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

    2004-01-01

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

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

    ERIC Educational Resources Information Center

    Nagamitsu, Shinichiro; And Others

    1997-01-01

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

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

    PubMed

    Leaute-Labreze, Christine

    2014-12-01

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

  8. Simulants of Malignant Melanoma

    PubMed Central

    Piérard-Franchimont, Claudine; Delvenne, Philippe

    2015-01-01

    During the recent period, dermoscopy has yielded improvement in the early disclosure of various atypical melanocytic neoplasms (AMN) of the skin. Beyond this clinical procedure, AMN histopathology remains mandatory for establishing their precise diagnosis. Of note, panels of experts in AMN merely report moderate agreement in various puzzling cases. Divergences in opinion and misdiagnosis are likely increased when histopathological criteria are not fine-tuned and when facing a diversity of AMN types. Furthermore, some AMN have been differently named in the literature including atypical Spitz tumor, metastasizing Spitz tumor, borderline and intermediate melanocytic tumor, malignant Spitz nevus, pigmented epithelioid melanocytoma or animal-type melanoma. Some acronyms have been further suggested such as MELTUMP (after melanocytic tumor of uncertain malignant potential) and STUMP (after Spitzoid melanocytic tumor of uncertain malignant potential). In this review, such AMN at the exclusion of cutaneous malignant melanoma (MM) variants, are grouped under the tentative broad heading skin melanocytoma. Such set of AMN frequently follows an indolent course, although they exhibit atypical and sometimes worrisome patterns or cytological atypia. Rare cases of skin melanocytomas progress to loco regional clusters of lesions (agminate melanocytomas), and even to regional lymph nodes. At times, the distinction between a skin melanocytoma and MM remains puzzling. However, multipronged immunohistochemistry and emerging molecular biology help profiling any malignancy risk if present. PMID:26779311

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

    PubMed Central

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

    2012-01-01

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

  10. Hemostasis and malignancy.

    PubMed

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

    1998-01-01

    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

  11. [Paediatric malignant liver tumours].

    PubMed

    Brugières, Laurence; Branchereau, Sophie; Laithier, Véronique

    2012-02-01

    Tumours and pseudotumours of the liver are a heterogeneous group of neoplasm including 60% of malignant tumours. Malignant liver tumours account for less than 2% of the lesions in children and vary considerably in incidence throughout the paediatric age range, with hepatoblastoma, rhabdoid tumour of the liver, hemangioendothelioma, biliary tract rhabdomysosarcoma and mesenchymal hamartoma in the first two years of life and hepatocellular carcinoma, focal nodular hyperplasia, and undifferentiated sarcoma in older children and adolescents. Treatment of malignant epithelial tumours is based on the surgical resection of the tumour associated with pre- and postoperative chemotherapy including cisplatinum. Modalities of the treatment are adapted to risk factors. Survival rates at three years are over 80% for localised hepatoblastoma whereas they are less than 30% in hepatocellular carcinomas. The role of targeted therapies still has to be defined. PMID:22266074

  12. Congenital Disseminated Extrarenal Malignant Rhabdoid Tumor.

    PubMed

    Boudjemaa, Sabah; Petit, Arnaud; Dainese, Linda; Bourdeaut, Franck; Lipsett, Jill; Coulomb, Aurore

    2015-01-01

    Soft tissue tumors arising in association with genetic or malformation syndromes have been increasingly reported. Malignant rhabdoid tumor (MRT) is a highly aggressive neoplasm of infancy and young childhood, characterized by typical morphology and biallelic inactivation of the SMARCB1 (INI1/hSNF5/BAF47) gene on chromosome 22q.2 which encodes a subunit of the SWI/SNF ATP-dependent chromatin remodeling complex. Congenital infantile disseminated MRT represents a unique clinicopathologic presentation of this tumor. We report a case occurring in a female neonate who presented at birth a voluminous left thigh mass. Surgical biopsy performed at day 9 showed morphology and immunoprofile of MRT. Staging evaluation identified hypercalcemia and distant nodules. The mass showed rapid growth. Despite chemotherapy, the tumor progressed with exteriorization through the biopsy scar. Chemotherapy was discontinued and treatment limited to palliative care and the child died on day 51. The tumor was homozygous for the SMARCB1 deletion with apparent de novo heterozygous germ line deletion in the infant, not identified in the parents. PMID:25751458

  13. Looking for new treatments of Infantile Colic

    PubMed Central

    2014-01-01

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

  14. Association of cytomegalovirus with infantile hepatitis.

    PubMed

    Shibata, Yukiko; Kitajima, Naoko; Kawada, Jun-ichi; Sugaya, Naomi; Nishikawa, Kazuo; Morishima, Tsuneo; Kimura, Hiroshi

    2005-01-01

    Infantile hepatitis is occasionally seen in apparently healthy children. In most cases, the etiology of the infection is uncertain. However, cytomegalovirus (CMV), Epstein-Barr virus (EBV), human herpesvirus-6 (HHV-6), human herpesvirus-7 (HHV-7), human parvovirus B19, and TT virus (TTV) are considered to be associated with hepatitis in children. The objective of this study was to investigate the correlations between these viruses and infantile hepatitis. Twenty-six children from 1 to 24 months old (median age, 7 months) who had liver dysfunction of unknown etiology were enrolled in this study. Plasma samples were examined by a real-time PCR assay for CMV, EBV, HHV-6, HHV-7, parvovirus B19, and TTV DNA. The DNA of CMV was detected in the plasma of four patients (15.4%) and was detected significantly more often in the patient group than in the control group. The CMV-infected patients were 1 to 3 months old, which was significantly younger than the remaining patients. The serological findings did not always correlate with the results of the real-time PCR assay. The DNA of TTV was detected in four patients (15.4%), while human parvovirus B19 DNA was detected in three (11.5%). However, the detection frequencies of these viral DNAs were not significantly different from those in the control groups, and some of these patients had co-infections. These results indicate that CMV might be one of the major pathogens responsible for infantile hepatitis; however, serological tests have limited utility for the diagnosis of CMV infection in young children. PMID:16113505

  15. Paraspinal tuberculosis mimicking malignancy.

    PubMed

    Alherabi, Ameen Z; Marglani, Osama A; Gazzaz, Malak J; Abbas, Mohammed M

    2013-12-01

    Tuberculosis (TB) of the paraspinal muscles is a rare clinical entity. We present a case of an 18-year-old, Saudi male patient presenting with the clinical picture of a paraspinal mass that turned out to be paraspinal TB. It originated from the paraspinal tissues and muscles, and invaded the C6 and C7 vertebrae. Initially, it was highly suspicious for malignancy. A biopsy confirmed the diagnosis of TB, and the patient was treated successfully with anti-TB therapy. It is important to be aware that paraspinal TB can mimic malignancy. PMID:24343472

  16. Diffuse malignant peritoneal mesothelioma.

    PubMed

    Shih, Chih-An; Ho, Szu-Pei; Tsay, Feng-Woei; Lai, Kwok-Hung; Hsu, Ping-I

    2013-11-01

    Mesothelioma often originates in the pleura and less frequently in the peritoneum. This article describes a rare case of diffuse malignant peritoneal mesothelioma in a 54-year-old male construction worker who was admitted to our hospital with a 2-month history of progressive abdominal distention. Abdominal computed tomography revealed extensive peritoneal nodularity and omental cake along with massive ascites. Imaging findings initially suggested peritoneal carcinomatosis, primary peritoneal carcinoma, and tuberculous peritonitis. Laparoscopic biopsy of the omentum and peritoneum confirmed the diagnosis of malignant peritoneal mesothelioma of epitheloid type. Although systemic chemotherapy was administered, no tumor regression was found. The patient finally died of nosocomial infection. PMID:24183360

  17. Acupuncture in the treatment of infantile colic.

    PubMed

    Landgren, Kajsa; Raith, Wolfgang; Schmölzer, Georg M; Skjeie, Holgeir; Skonnord, Trygve

    2015-01-01

    Regarding the recently published review "Looking for new treatments of Infantile Colic" by Savino et al. we want to add that positive effects of acupuncture have been demonstrated to release pain and agitation and that acupuncture seems to be a safe treatment when performed by trained acupuncturists. Inconclusive results in the few published articles on the subject can be due to different acupuncture points, different insertion time, different needling methods, differences in the outcome variables, in how the crying was measured and insufficient sample sizes. Further research is needed on understanding the utility, safety, and effectiveness of acupuncture in infants with colic. PMID:25588517

  18. Infantile spasms syndrome in monozygotic twins.

    PubMed Central

    Pavone, L; Mollica, F; Incorpora, G; Pampiglione, G

    1980-01-01

    The infantile spasms syndrome appeared on the same day in a pair of monozygotic twins at age 6 months. Clinical, electroencephalographic, and neuroradiological findings during the development of the disease are reported. One of the twins was treated with ACTH and in his case clinical and electroencephalographic improvement was more rapid than in the other who was treated with clonazepam. While the computer tomography scan initially showed in each twin an area of low density in the right fronto-parietal region, this had disappeared in the tomograms obtained about 8 months later. PMID:6254446

  19. Pediatric Head and Neck Malignancies.

    PubMed

    Qaisi, Mohammed; Eid, Issam

    2016-02-01

    Head and neck malignancies are rare in pediatric patients, and represent 12% of all pediatric malignancies. The incidence for these head and neck tumors is 1.49 cases per 1,000,000 person-years. Among the most common pediatric head and neck malignancies are lymphomas (27%), neural tumors including primitive neurectodermal tumors (23%), thyroid malignancies (21%), soft tissue sarcomas including rhabdomyosarcoma (12%), nasopharyngeal carcinoma, skeletal and odontogenic malignancies including osteosarcoma, Ewing sarcoma, and ameloblastic carcinoma. This article presents an overview of pediatric head and neck malignancies with emphasis on diagnosis and management. PMID:26614697

  20. Malignant Catarrhal Fever

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  1. [Malignant peritoneal mesothelioma].

    PubMed

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

    2006-01-01

    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

  2. Postirradiation malignant fibrous histiocytoma

    SciTech Connect

    Tewfik, H.H.; Tewfik, F.A.; Latourette, H.B.

    1981-02-01

    Three patients who were treated successfully with postoperative external radiation therapy for ovarian carcinoma, endometrial adenocarcinoma, and bilateral retinoblastoma respectively developed years later malignant fibrous histiocytoma (MFH) within the irradiated field. MFH is a recently described soft tissue sarcoma known for its dual fibroblastic and histiocytic differentiation resulting in a pleomorphic histologic appearance.

  3. Infantile colic: Is there a role for dietary interventions?

    PubMed Central

    Critch, JN

    2011-01-01

    Infantile colic is a behavioural syndrome of early childhood that is associated with irritability and crying. It self-resolves, but may lead to significant parental strife. The etiology is unknown; however, several investigators have examined the effect of nutrition on infantile colic. For the majority of infants, nutritional interventions appear to have no benefit on infantile colic. However, a minority of infants may display symptoms of infantile colic secondary to a cow’s milk protein allergy. In these cases, a maternal hypoallergenic diet for breastfed infants and an extensively hydrolyzed formula for bottle-fed infants may result in resolution of colic. There is no proven role for the use of soy-based formulas or of lactase therapy in the management of infantile colic, and these interventions are not recommended. Currently, there are insufficient data to make a recommendation on the effect of probiotics for infantile colic. In all cases of infantile colic, it is important to ensure that there is sufficient parental support available. PMID:22211076

  4. [Hematologic abnormalities in infantile visceral leishmaniasis].

    PubMed

    Chouchene, S; Braham, N; Bouatay, A; Hizem, S; Berriri, S; Eljemai, A; Boughamoura, L; Kortas, M

    2015-11-01

    The clinical and biological manifestations of visceral leishmaniasis are often confusing, most particularly because it can mimic and lead to a variety of hematological disorders. The aim of this study was to investigate the hematologic abnormalities observed in infantile visceral leishmaniasis from January 2000 and December 2013. The study included 35 children with a mean age of 3.5 years. Clinical manifestations were dominated by splenomegaly, fever, and paleness, defining the classic triad in 16% of our patients. Anemia was present in all patients. Leukopenia was found in 51% of the cases. Thrombocytopenia was observed in 48% of our patients and 36% had pancytopenia. All cases were confirmed by the presence of Leishman bodies (amastigotes) in the bone marrow smears. Quantitative and qualitative megakaryocyte abnormalities were found. Similarly, dysgranulopoiesis was observed in 31% of the cases, eosinophilia was present in 6%, erythroid hypoplasia in 3%, and erythroid hyperplasia in 34%. Different features of dyserythropoiesis were revealed in 71% of the patients with images of hemophagocytosis in 6% and multiple dysplasias in 9%. The knowledge of these hematological abnormalities associated with infantile visceral leishmaniasis can assist us in searching for Leishman bodies in the bone marrow smears to provide a diagnosis more quickly without necessarily resorting to more sophisticated tests. PMID:26433577

  5. Evidence-based guideline update: Medical treatment of infantile spasms

    PubMed Central

    Go, C.Y.; Mackay, M.T.; Weiss, S.K.; Stephens, D.; Adams-Webber, T.; Ashwal, S.; Snead, O.C.

    2012-01-01

    Objective: To update the 2004 American Academy of Neurology/Child Neurology Society practice parameter on treatment of infantile spasms in children. Methods: MEDLINE and EMBASE were searched from 2002 to 2011 and searches of reference lists of retrieved articles were performed. Sixty-eight articles were selected for detailed review; 26 were included in the analysis. Recommendations were based on a 4-tiered classification scheme combining pre-2002 evidence and more recent evidence. Results: There is insufficient evidence to determine whether other forms of corticosteroids are as effective as adrenocorticotropic hormone (ACTH) for short-term treatment of infantile spasms. However, low-dose ACTH is probably as effective as high-dose ACTH. ACTH is more effective than vigabatrin (VGB) for short-term treatment of children with infantile spasms (excluding those with tuberous sclerosis complex). There is insufficient evidence to show that other agents and combination therapy are effective for short-term treatment of infantile spasms. Short lag time to treatment leads to better long-term developmental outcome. Successful short-term treatment of cryptogenic infantile spasms with ACTH or prednisolone leads to better long-term developmental outcome than treatment with VGB. Recommendations: Low-dose ACTH should be considered for treatment of infantile spasms. ACTH or VGB may be useful for short-term treatment of infantile spasms, with ACTH considered preferentially over VGB. Hormonal therapy (ACTH or prednisolone) may be considered for use in preference to VGB in infants with cryptogenic infantile spasms, to possibly improve developmental outcome. A shorter lag time to treatment of infantile spasms with either hormonal therapy or VGB possibly improves long-term developmental outcomes. PMID:22689735

  6. Cerebrospinal Fluid Corticotropin and Cortisol Are Reduced in Infantile Spasms

    PubMed Central

    Baram, Tallie Z.; Mitchell, Wendy G.; Hanson, Rebecca A.; Snead, O. Carter; Horton, E.J.

    2012-01-01

    Infantile spasms respond to ACTH, and levels of the hormone in cerebrospinal fluid of untreated infants with this disorder were found to be lower than in age-matched controls. In this study we analyzed cerebrospinal fluid Cortisol and ACTH using improved immunoassays in a larger cohort of infants with infantile spasms. Analysis of 20 patients and 15 age-matched controls revealed significantly lower levels of both ACTH and Cortisol in the cerebrospinal fluid. These data, combined with the efficacy of ACTH and glucocorticoids for infantile spasms, support an involvement of the brain-adrenal-axis in this disorder. PMID:8534274

  7. Managing Malignant Cerebral Infarction

    PubMed Central

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

    2011-01-01

    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

  8. The malignant social network

    PubMed Central

    Hale, James S.; Li, Meizhang; Lathia, Justin D.

    2012-01-01

    Tumors contain a vastly complicated cellular network that relies on local communication to execute malignant programs. The molecular cues that are involved in cell-cell adhesion orchestrate large-scale tumor behaviors such as proliferation and invasion. We have recently begun to appreciate that many tumors contain a high degree of cellular heterogeneity and are organized in a cellular hierarchy, with a cancer stem cell (CSC) population identified at the apex in multiple cancer types. CSCs reside in unique microenvironments or niches that are responsible for directing their behavior through cellular interactions between CSCs and stromal cells, generating a malignant social network. Identifying cell-cell adhesion mechanisms in this network has implications for the basic understanding of tumorigenesis and the development of more effective therapies. In this review, we will discuss our current understanding of cell-cell adhesion mechanisms used by CSCs and how these local interactions have global consequences for tumor biology. PMID:22796941

  9. Hyaluronan in human malignancies

    SciTech Connect

    Sironen, R.K.; Department of Pathology, Kuopio University Hospital, P.O. Box 1777, FI-70211 Kuopio ; Tammi, M.; Tammi, R.; Auvinen, P.K.; Anttila, M.; Department of Gynecology and Obstetrics, Kuopio University Hospital, P.O. Box 1777, FI-70211 Kuopio ; Kosma, V-M.

    2011-02-15

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

  10. Lymphoscintigraphy in malignant melanoma

    SciTech Connect

    Berman, C.G.; Norman, J.; Cruse, C.W.; Reintgen, D.S.; Clark, R.A. )

    1992-01-01

    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.

  11. Microbiome and Malignancy

    PubMed Central

    Plottel, Claudia S.; Blaser, Martin J.

    2011-01-01

    Current knowledge is insufficient to explain why only a proportion of individuals exposed to environmental carcinogens or carrying a genetic predisposition to cancer develop disease. Clearly, other factors must be important and one such element that has recently received attention is the human microbiome, the residential microbes including Bacteria, Archaea, Eukaryotes, and viruses that colonize humans. Here, we review principles and paradigms of microbiome-related malignancy, as illustrated by three specific microbial-host interactions. We review the effects of the microbiota on local and adjacent-neoplasia, present the estrobolome model of distant effects, and discuss the complex interactions with a latent virus leading to malignancy. These are separate facets of a complex biology interfacing all the microbial species we harbor from birth onward toward early reproductive success and eventual senescence. PMID:22018233

  12. Pembrolizumab in Treating Patients With Malignant Mesothelioma

    ClinicalTrials.gov

    2015-11-09

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

  13. Postirradiation malignant fibrous histiocytoma

    SciTech Connect

    Goette, D.K.; Deffer, T.A.

    1985-04-01

    A slowly growing, firm, asymptomatic tumor developed in the skin overlying the left scapula of a 72-year-old woman during a six-month period. Twenty-seven years earlier, she had radiation treatment to that site for an intraductal carcinoma of the left breast. The histopathologic diagnosis was malignant fibrous histiocytoma (MFH). The rarity of this late complication of radiation therapy is reflected by a few reports in the medical literature of cutaneous MFH as late radiation sequelae.

  14. Acquired hemophilia in malignancy.

    PubMed

    Reeves, Brandi N; Key, Nigel S

    2012-04-01

    Acquired hemophilia is a rare but potentially morbid complication in patients with cancer. It may be seen in patients with hematologic neoplasms (usually lymphoproliferative disorders) or with solid tumors. Although the presence of an underlying malignancy portends a worse outcome, the literature suggests that the usual principles of treatment, including immunosuppression, apply to these patients. However, appropriate consideration should be given to the choice of agents, depending on individual risk factors for complications such as thrombosis and infection. PMID:22682137

  15. [Malignant peritoneal mesothelioma].

    PubMed

    Beznea, A; Truş, C-tin; Chicoş, St C; Chebac, G R; Ceauşu, M

    2009-01-01

    This work presents the case of a hemorrhagic, necrotized peritoneal malignant mesothelioma in a 46-year old man, discovered during the emergency surgery, performed for an acute surgical abdomen/hemoperitoneum. Mesotheliomas are rare neoplasms of the pleura, peritoneum or pericardium, which are frequently associated with exposure to asbestos. The paraclinical investigations (echography) were not able to specify the diagnosis before the operation. The surgical intervention--tumorectomy, electrocoagulation, hemostasis with Gelaspon sponges-- had favourable results. PMID:19499669

  16. Endometriosis-associated Malignancy

    PubMed Central

    Krawczyk, N.; Banys-Paluchowski, M.; Schmidt, D.; Ulrich, U.; Fehm, T.

    2016-01-01

    Endometriosis is a common condition in women of reproductive age. According to several epidemiological studies endometriosis may be associated with increased risk of various malignancies. However, endometriosis-associated malignancy (EAM) is defined by certain histological criteria. About 80 % of EAM have been found in the ovary, whereas 20 % are localized in extragonadal sites like intestine, rectovaginal septum, abdominal wall, pleura and others. Some authors suggest that EAM arise from atypical endometriosis as an intermediate lesion between endometriosis and cancer. Moreover, a number of genetic alterations, like loss of heterozygosity (LOH), PTEN, ARID1 A and p53 mutations have been found in both endometriosis and EAM. Endometriosis-associated ovarian cancer (EAOC) is mostly a well or intermediately differentiated tumor of endometrioid or clear cell histological sub-type. Women affected by EAOC are on average five to ten years younger than non-EAOC patients; in most of the cases EAOC is a low stage disease with favorable clinical outcome. Since EAM is a rare condition systematic data on EAM are still missing. A systematic retrospective study on endometriosis-associated malignancies (EAM study) is currently being conducted by the Endometriosis Research Foundation together with the study groups on ovarian and uterine tumors of the working group for gynecological oncology (AGO) (gyn@mlk-berlin.de). PMID:26941451

  17. Asbestos-related malignancy

    SciTech Connect

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

    1988-05-01

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

  18. Treatment of Malignant Pheochromocytoma

    PubMed Central

    Ajallé, R.; Plouin, P. F.; Pacak, K.; Lehnert, H.

    2013-01-01

    Pheochromocytoma (PCC) is a rare disease, mainly sporadic, but also associated with some familial disorders, with a malignancy frequency of approximately 10%. Only the presence of distant metastases, derived from large pleomorphic chromaffin cells, is widely accepted as a criterion of malignancy. Variable symptoms may be caused by production and release of catecholamines. Since there is no curative treatment for malignant PCC and due to its unfavorable prognosis, assuring quality of life is one of the main therapeutic objectives. Besides a long-term medical treatment of symptoms using selective ?-1 blockers and nonselective, noncompetitive ?- and / or ?-blockers, debulking surgery is the first treatment step. In case of a sufficient uptake of 123I-MIBG treatment with targeted radiation therapy, use of 131I-MIBG is an option as an adjuvant therapy, following debulking surgery. Chemotherapy should be applied to patients without positive MIBG-scan, with no response to 131I-MIBG or progression after radionuclide treatment, and especially in cases with high proliferation index. The most effective chemotherapy regimen appears to be the CVD-scheme, including cyclophosphamide, vincristine, and dacarbazine. The so-called targeted molecular therapies with treatment combinations of temozolomide and thalidomide, or sunitinib monotherapy, and novel therapeutic somatostatin analogues have shown promising results and should thus encourage clinical trials to improve the prognosis of metastatic PCC. Within this review the current treatment modalities and novel molecular strategies in the management of this disease are discussed and a treatment algorithm is suggested. PMID:19672813

  19. Malignant Catatonia Mimicking Pheochromocytoma

    PubMed Central

    Li, Dailin

    2013-01-01

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

  20. Immunotherapy for Gastrointestinal Malignancies

    PubMed Central

    Toomey, Paul G.; Vohra, Nasreen A.; Ghansah, Tomar; Sarnaik, Amod A.; Pilon-Thomas, Shari A.

    2016-01-01

    Background Gastrointestinal (GI) cancers are the most common human tumors encountered worldwide. The majority of GI cancers are unresectable at the time of diagnosis, and in the subset of patients undergoing resection, few are cured. There is only a modest improvement in survival with the addition of modalities such as chemotherapy and radiation therapy. Due to an increasing global cancer burden, it is imperative to integrate alternative strategies to improve outcomes. It is well known that cancers possess diverse strategies to evade immune detection and destruction. This has led to the incorporation of various immunotherapeutic strategies, which enable reprogramming of the immune system to allow effective recognition and killing of GI tumors. Methods A review was conducted of the results of published clinical trials employing immunotherapy for esophageal, gastroesophageal, gastric, hepatocellular, pancreatic, and colorectal cancers. Results Monoclonal antibody therapy has come to the forefront in the past decade for the treatment of colorectal cancer. Immunotherapeutic successes in solid cancers such as melanoma and prostate cancer have led to the active investigation of immunotherapy for GI malignancies, with some promising results. Conclusions To date, monoclonal antibody therapy is the only immunotherapy approved by the US Food and Drug Administration for GI cancers. Initial trials validating new immunotherapeutic approaches, including vaccination-based and adoptive cell therapy strategies, for GI malignancies have demonstrated safety and the induction of antitumor immune responses. Therefore, immunotherapy is at the forefront of neoadjuvant as well as adjuvant therapies for the treatment and eradication of GI malignancies. PMID:23302905

  1. Epigenetics in the hematologic malignancies

    PubMed Central

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

    2014-01-01

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

  2. Benign familial infantile seizures: further delineation of the syndrome.

    PubMed

    Caraballo, Roberto Horacio; Cersósimo, Ricardo Oscar; Amartino, Hernan; Szepetowski, Pierre; Fejerman, Natalio

    2002-09-01

    Benign familial infantile seizures are an autosomal dominant epilepsy disorder that is characterized by convulsions, with onset at age 3 to 12 months and a favorable outcome. Benign familial infantile seizures have been linked to chromosome 19q whereas infantile convulsions and choreoathetosis syndrome, in which benign familial infantile seizure is associated with paroxysmal choreoathetosis, has been linked to chromosome 16p 12-q12. Many additional families from diverse ethnic backgrounds have similar syndromes that have been linked to the chromosome 16 infantile convulsions and choreoathetosis syndrome region. Moreover, in one large pedigree with paroxysmal kinesiogenic dyskinesias only, the syndrome has also been linked to the same genomic area. Families with pure benign familial infantile seizures may be linked to chromosome 16 as well. In this study, we present a series of 19 families and 24 otherwise healthy infants with benign familial infantile seizures. Two of these families include members affected with benign familial infantile seizures and paroxysmal choreoathetosis. We included patients with normal neurologic examinations, who started having simple partial seizures, complex partial seizures, or apparently generalized seizures without recognized etiology between 2 months and 2 years of age. Neurologic studies were normal, but in all patients, there was a history of similar seizures and age at onset in either the father or the mother. Twenty-four patients (14 girls and 10 boys) were evaluated at our hospital between February 1990 and February 2001. Age at onset, sex, family history of epilepsy and/or paroxysmal dyskinesias, neurologic examination, semiology, distribution, and frequency and duration of seizures were evaluated. Electroencephalographic (EEG) and neuroradiologic studies were also performed. Seizures began between 3 and 22 months of life, with a median age of 5 1/2 months. Nine patients (37.5%) had only apparently generalized seizures, 5 patients (20.8%) had only partial seizures, and 10 patients had both partial and apparently generalized seizures (41.6%). Seizures were invariably brief, occurred during the waking state (100%), and presented mainly in clusters in 12 patients (50%). Interictal EEG was normal in 23 patients (95.8%). Sixteen patients (66.6%) had a confirmed history of convulsions in family members other than parents. Twenty-two patients became seizure free after 30 months of life. Two brothers in the same family had brief paroxysmal episodes of choreoathetosis in the hemibody triggered by stress while awake at 15 and 17 years old, respectively. One of them had paroxysmal choreoathetosis only, and the other was associated with benign familial infantile seizures. One father had brief spontaneous episodes of paroxysmal choreoathetosis when awake at age 18 years. All of them had a good response to antiepilepsy drugs, and neurologic examination and EEG and neuroradiologic studies were normal. Benign familial infantile seizure is a genetic epilepsy syndrome with autosomal dominant inheritance. It may be associated with paroxysmal choreoathetosis (infantile convulsions and choreoathetosis syndrome), which has been linked to the chromosome 16 infantile convulsions and choreoathetosis syndrome region. Patients in families with infantile convulsions and choreoathetosis syndrome could display either benign familial infantile seizures or paroxysmal choreoathetosis or both. It is likely that the disease in families with pure benign familial infantile seizures may be linked to the infantile convulsions and choreoathetosis region as well. We cannot exclude the possibility that the youngest patients may develop choreoathetosis or other dyskinesias later in life. PMID:12503648

  3. Genetics Home Reference: Late-infantile neuronal ceroid lipofuscinosis

    MedlinePLUS

    ... seizures (epilepsy) and difficulty coordinating movements (ataxia). Affected children also develop muscle twitches (myoclonus) and vision impairment. Late-infantile NCL affects motor skills, such as sitting and walking, and speech development. This condition also causes the loss of previously ...

  4. Genetics Home Reference: Late-infantile neuronal ceroid lipofuscinosis

    MedlinePLUS

    ... buildup of lipopigments. In late-infantile NCL, these accumulations occur in cells throughout the body, but neurons seem particularly vulnerable to damage caused by lipopigments and a decrease in specific protein function. The progressive death of cells in ...

  5. A Case of Infantile Autism Associated with Down's Syndrome.

    ERIC Educational Resources Information Center

    Wakabayashi, Shinichiro

    1979-01-01

    The article presents a case history of infantile autism associated with Down's syndrome, and discusses the relationship between the two conditions. Among the aspects covered are the child's family history and his developmental and medical history. (DLS)

  6. Genetics Home Reference: X-linked infantile nystagmus

    MedlinePLUS

    ... infantile nystagmus is a condition characterized by abnormal eye movements. Nystagmus is a term that refers to involuntary ... the first six months of life. The abnormal eye movements may worsen when an affected person is feeling ...

  7. Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review.

    PubMed

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

    2010-11-01

    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. PMID:20499338

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

    PubMed Central

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

    2010-01-01

    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

  9. A MODEL OF SYMPTOMATIC INFANTILE SPASMS SYNDROME

    PubMed Central

    Scantlebury, Morris H.; Galanopoulou, Aristea S.; Chudomelova, Lenka; Raffo, Emmanuel; Betancourth, David; Moshé, Solomon L.

    2009-01-01

    Infantile spasms are characterized by age-specific expression of epileptic spasms, hypsarrhythmia and often result in significant cognitive impairment. Other epilepsies or autism often ensue especially in symptomatic IS (SIS). Cortical or subcortical damage, including white matter, have been implicated in the pathogenesis of SIS. To generate a model of SIS, we recreated this pathology by injecting rats with lipopolysaccharide and doxorubicin intracerebrally at postnatal day (P) 3 and with p-chlorophenylalanine intraperitoneally at P5. Spasms occurred between P4–13 and were associated with ictal EEG correlates, interictal EEG abnormalities and neurodevelopmental decline. After P9 other seizures, deficits in learning and memory, and autistic-like behaviors (indifference to other rats, increased grooming) were observed. Adrenocorticotropic hormone (ACTH) did not affect spasms. Vigabatrin transiently suppressed spasms at P5. This new model of SIS will be useful to study the neurobiology and treatment of SIS, including those that are refractory to ACTH. PMID:19945533

  10. Abnormal Head Position in Infantile Nystagmus Syndrome

    PubMed Central

    Noval, Susana; González-Manrique, Mar; Rodríguez-Del Valle, José María; Rodríguez-Sánchez, José María

    2011-01-01

    Infantile nystagmus is an involuntary, bilateral, conjugate, and rhythmic oscillation of the eyes which is present at birth or develops within the first 6 months of life. It may be pendular or jerk-like and, its intensity usually increases in lateral gaze, decreasing with convergence. Up to 64% of all patients with nystagmus also present strabismus, and even more patients have an abnormal head position. The abnormal head positions are more often horizontal, but they may also be vertical or take the form of a tilt, even though the nystagmus itself is horizontal. The aim of this article is to review available information about the origin and treatment of the abnormal head position associated to nystagmus, and to describe our treatment strategies. PMID:24533187

  11. ACTH therapy in infantile spasms: side effects.

    PubMed Central

    Riikonen, R; Donner, M

    1980-01-01

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

  12. Spatial-Bisection Acuity in Infantile Nystagmus

    PubMed Central

    Ukwade, Michael T.; Bedell, Harold E.

    2012-01-01

    This study measured spatial bisection acuity for horizontally and vertically separated line targets in 5 observers with infantile nystagmus syndrome (INS) and no obvious associated sensory abnormalities, and in two normal observers during comparable horizontal retinal image motion. For small spatial separations between the line targets, bisection acuity for both horizontally and vertically separated lines is worse in the observers with IN than normal observers. In four of the five observers with IN, bisection acuity for small target separations is poorer for horizontally compared to vertically separated lines. Because the motion smear generated by the retinal image motion during IN would be expected influence horizontally separated targets, the degradation of bisection acuity for both vertical and horizontally separated lines indicates that a sensory neural deficit contributes to impaired visual functioning in observers with idiopathic IN. PMID:22595744

  13. [Natural history of infantile autism (nosography)].

    PubMed

    Malvy, J; Rouby, P; Receveur, C; Sauvage, D

    1997-01-01

    Natural history of infantile autism goes from its first description to current classifications. Most authors agree upon the perfect character of Kanner's description in 1943. But its situation in the nosography has much developed. The parution of 4th edition of Diagnostic and Statistical Manual of mental disorders (DSM IV) bring us to analyse this evolution and the place of autistic disorders in the pervasive developmental disorders, with this of associated pathologies. The comparison of current classifications (DSM IV, ICD 10, CFTMEA) allows us to do correspondence between each diagnostic category in psychosis or developmental disorders of these classifications. It exists a real concordance between DSM IV and ICD 10. The french classification of child and adolescent mental disorders (CFTMEA) proposes original categories. PMID:9172965

  14. Mechanisms of propranolol action in infantile hemangioma

    PubMed Central

    Kum, Jina JY; Khan, Zia A

    2014-01-01

    Infantile hemangioma is a common tumor of infancy. Although most hemangiomas spontaneously regress, treatment is indicated based on complications, risk to organ development and function, and disfigurement. The serendipitous discovery of propranolol, a non-selective ?-adrenergic receptor blocker, as an effective means to regress hemangiomas has made this a first-line therapy for hemangioma patients. Propranolol has shown remarkable response rates. There are, however, some adverse effects, which include changes in sleep, acrocyanosis, hypotension, and hypoglycemia. Over the last few years, researchers have focused on understanding the mechanisms by which propranolol causes hemangioma regression. This has entailed study of cultured vascular endothelial cells including endothelial cells isolated from hemangioma patients. In this article, we review recent studies offering potential mechanisms of how various cell types found in hemangioma may respond to propranolol. PMID:26413184

  15. Infantile cytomegalovirus-associated autoimmune hemolytic anemia.

    PubMed

    Murray, J C; Bernini, J C; Bijou, H L; Rossmann, S N; Mahoney, D H; Morad, A B

    2001-01-01

    Autoimmune hemolytic anemia (AIHA) is a hematologic disorder that is rarely seen in infants and young children. Most cases are associated with viral or bacterial infection, but the immunologic events leading to hemolysis are poorly understood. We describe two infants with severe cytomegalovirus (CMV)-associated warm antibody AIHA. One case was immunohematologically analyzed and showed suggestive evidence that endogenous anti-CMV IgG antibodies were the pathogenic antibodies leading to hemolysis, implicating a possible causal relationship between AIHA and CMV infection. Both patients were ultimately treated with intravenous CMV immune globulin, with subsequent improvement. These cases suggest that investigation for the presence of CMV in infantile AIHA is warranted and that CMV immune globulin should be considered as a therapeutic option. PMID:11464992

  16. A genetic and biologic classification of infantile spasms

    PubMed Central

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

    2011-01-01

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

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

    PubMed Central

    Khan, Sarah N.; Sepahdari, Ali R.

    2012-01-01

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

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

    PubMed

    Khan, Sarah N; Sepahdari, Ali R

    2012-10-01

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

  19. Congenital uveal malignant melanoma.

    PubMed

    Pukrushpan, Parnchat; Tulvatana, Wasee; Pittayapongpat, Rosana

    2014-04-01

    We report the clinical and pathological findings of a rare case of congenital uveal melanoma. A 7-week-old girl presented with history of a black area at the inner corner of her left eye since birth. Examination revealed an enlarged globe with an area of visible uveal pigment nasal to the cornea, an iris mass, and shallow anterior chamber in the left eye. Magnetic resonance imaging revealed an intraocular mass. Enucleation was performed when the girl was 2 months of age. Pathologic examination confirmed a malignant melanoma epithelioid cell type with extraocular extension. She was treated with chemotherapy and subtotal exenteration. PMID:24698625

  20. Salivary Gland Malignancies.

    PubMed

    Rodriguez, Cristina P; Parvathaneni, Upendra; Méndez, Eduardo; Martins, Renato G

    2015-12-01

    Salivary gland malignant tumors represent a diverse group of neoplasms. Their low incidence makes research studies challenging, with most therapeutic recommendations based on case reviews, single-arm trials, or small randomized trials. The standard of care for localized disease is surgical resection. Radiotherapy is the preferred local therapy when surgery is not possible or if there is significant morbidity. When symptomatic metastatic disease develops, systemic therapy is considered. Recent trial accrual success with a cooperative group, treatments based on defined molecular targets, and the development of immunotherapies all hold promise in improving the care of patients with these tumors. PMID:26568553

  1. Radioimmunotherapy of malignancies

    SciTech Connect

    Reilly, R.M. )

    1991-05-01

    The critical issues in radioimmunotherapy are highlighted, and novel ways of improving the therapeutic indexes of radioimmunotherapeutic agents are outlined. The use of radioactively labeled monoclonal antibodies to treat malignant tumors has been investigated in animals and humans. Radionuclides suitable for labeling antibodies for such use include iodine 125, iodine 131, yttrium 90, rhenium 188, and copper 67. Radiobiological factors to be considered in radioimmunotherapy include the size and density of the tumor and the ability of a radiolabeled antibody to penetrate the tumor nodule. The dose of radiation required to destroy a tumor varies; however, the whole-body dose must not exceed 200 rads to avoid irreversible toxicity to the bone marrow. Despite the theoretical inadequacy of radiation doses to tumors indicated by conventional dosimetry, responses have been observed in animals and humans. More reliable and accurate dosimetric methods are under development. The induction of human antimouse antibodies can alter the pharmacokinetics of radiolabeled antibodies. Improving the therapeutic index of radioimmunotherapeutic agents may be achieved through regional therapy, administering a secondary antibody to improve clearance, combining radioimmunotherapy with external-beam irradiation, using an avidin-biotin conjugate system to deliver the radiolabeled antibodies, and addressing the problem of tumor antigen heterogeneity. Researchers are working to reduce or eliminate the clinical problems associated with radioimmunotherapy. Hematologic malignancies, such as lymphomas, are more likely than solid tumors to respond satisfactorily. 110 refs.

  2. Radiotherapy of malignant melanoma

    SciTech Connect

    Cooper, J.S.

    1985-04-01

    The role of radiotherapy in the treatment of malignant melanoma is limited, and surgery generally forms the mainstay of medical practice. However, there are some circumstances in which radiotherapy should be considered the treatment of choice. Symptomatic metastatic lesions in bone or brain can effectively be palliated in a substantial proportion of instances. At the current stage of our knowledge, conventionally fractionated treatment of such lesions forms the standard against which other treatments should be measured. In contrast, metastatic lesions to skin or lymph nodes that do not overlie critical normal structures probably are better treated by high-dose-per-fraction techniques. Radiotherapy may play a definitive role in the treatment of lentigo maligna. The precise optimal energy of the beam to be used remains to be defined. Slightly more penetrating radiation appears to be required for lentigo maligna melanomas. Here, too, the optimal energy remains to be defined. The treatment of nonlentigenous melanomas primarily by radiotherapy is unproved in my opinion. Certainly, the data from the Princess Margaret Hospital is exciting, but I believe it must be corroborated by a well-designed trial before it can be accepted without question. Future directions in treatment of malignant melanoma are likely to include further trials of unconventional fractionation and the use of radiosensitizing agents in conjunction with radiotherapy. The time for dermatologists and radiation therapists to cooperate in such studies is at hand.

  3. Recent advances in the pharmacotherapy of infantile spasms.

    PubMed

    Riikonen, Raili

    2014-04-01

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

  4. Has infantile sexuality anything to do with infants?

    PubMed

    Salomonsson, Björn

    2012-06-01

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

  5. Sunburn and malignant melanoma.

    PubMed Central

    Green, A.; Siskind, V.; Bain, C.; Alexander, J.

    1985-01-01

    We investigated the relationship between cutaneous malignant melanoma and multiple sunburns in the Queensland population. Interview data were gathered from 236 case-control pairs concerning their lifetime experience of severe sunburns, their occupational and recreational sun exposure, and their skin type. Excluding the lentigo maligna melanoma subtype, an association between multiple sunburns and melanoma was evident. After controlling for other major risk factors there was a significant dose-response relationship (P less than 0.05): the estimated relative risk associated with 2-5 sunburns in life was 1.5, and with 6 or more was 2.4. This observation extends the hitherto circumstantial evidence of a causal relationship between exposure to solar ultraviolet radiation and melanoma, and suggests that precautionary measures could prevent the development of this disease in a proportion of cases in fair-skinned populations. PMID:3970815

  6. Helicobacter and Gastric Malignancies

    PubMed Central

    Ferreira, António Carlos; Isomoto, Hajime; Moriyama, Masatsugu; Fujioka, Toshio; Machado, José Carlos; Yamaoka, Yoshio

    2011-01-01

    Individuals infected with Helicobacter pylori, a stomach colonizing bacteria, have an increased risk of developing gastric malignancies. The risk for developing cancer relates to the physiologic and histologic changes that H. pylori infection induces in the stomach. In the last year numerous studies have been conducted in order to characterize the association between H. pylori infection and gastric cancer. These studies range from epidemiologic approaches aiming at the identification of environmental, host genetic, and bacterial factors associated with risk of gastric cancer, to molecular and cell biology approaches aiming at understanding the interaction between H. pylori and the transforming epithelial cell. In this review an account of the last year’s research activity on the relationship between H. pylori and gastric cancer will be given. PMID:18783519

  7. Malignant cerebral edema following cranioplasty.

    PubMed

    Hassaneen, Wael; Germanwala, Anand; Tsimpas, Asterios

    2016-03-01

    Malignant cerebral edema following cranioplasty is a very rare and devastating complication. We present a case of postoperative death following cranioplasty due to malignant cerebral edema. Similar cases and possible pathogenesis are discussed. This fearsome complication should be discussed with the patients and their families as part of the informed consent procedure. PMID:26585054

  8. Primary intrahepatic malignant epithelioid mesothelioma

    PubMed Central

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

    2014-01-01

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

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

    PubMed

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

    2015-03-01

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

  10. Infantile Spasms: A Critical Review of Emerging Animal Models

    PubMed Central

    Stafstrom, Carl E

    2009-01-01

    Infantile spasms is a developmental epilepsy syndrome with unique clinical and EEG features, a specific pattern of pharmacological responsiveness, and poor outcome in terms of cognition and epilepsy. Despite the devastating nature of infantile spasms, little is known about its pathogenesis. Until recently, there has been no animal model available to investigate the pathophysiology of the syndrome or to generate and test novel therapies. Now, several promising animal models have emerged, spanning the etiological spectrum from genetic causes (e.g., Down syndrome or Aristaless-related homeobox [ARX] mutation) to acquired causes (e.g., endogenous and exogenous toxins or stress hormones with convulsant activity or blockade of neural activity). These new models are discussed in this review, with emphasis on the insights each can provide for understanding, treating, and preventing infantile spasms. PMID:19471616

  11. Latest American and European updates on infantile spasms.

    PubMed

    Lux, Andrew L

    2013-03-01

    Infantile spasms remain a challenging condition to study and treat, and although they form the commonest epilepsy syndrome with onset in infancy, the challenge is broadened by the wide range of potential underlying causes. The field of study remains dynamic, with debates relating to case definitions and organising structures for classification of seizures and epilepsies in general, and a newly proposed genetic and biologic classification specifically for infantile spasms. There have been recent consensus statements, a Delphi process eliciting prioritised quality-of-care indicators, systematic reviews of treatment, and a survey of clinical practice in the USA. There is increasing evidence that longer duration of spasms is associated with poorer neurodevelopmental outcomes. It has taken many years to develop an animal model that reasonably represents infantile spasms, but there are now several animal models, and they are leading to innovative and valuable studies that suggest novel treatments. PMID:23341252

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

    PubMed Central

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

    2015-01-01

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

  13. Role of protein rich maternal diet in infantile colic.

    PubMed

    Mhaske, Sunil; Mhaske, Sandeep; Badrinarayan, S; Zade, Rohan; Shirsath, Ujjwala

    2012-05-01

    Infantile colic in exclusively breastfed infant is very common. The mother in this situation gets panickyand under stress. This is very common emergency in paediatric hospital. Infantile colic is characterised by paroxysms of uncontrollable crying in an otherwise healthy and well fed infants younger than three months of age, more specifically infantile colic is defined as cry exceeding 180 minutes per 24 hours on 3 days in the week in first 3 months of life. The incidence of infantile colic is 5 to 19% in different studies. The mothers' description of this condition is that the breastfed baby who has been apparently alright in the day, frowns, his face becomes red, draws up his legs, screams, continues to cry for about 2 to 20 minutes and then attack ends suddenly. Episodes of cry are usually clustered in the late evening and early morning hours, which may cause significant disruption of family interactions. To find out the any supportive cause for infantile colic pertaining to maternal diet, we have conducted a study, where 110 crying infants were examined who happened to attend paediatric department over a period of one year. In this study it was found that more infants (50%) were in the age group >2-3 months, then >1-2 months (39.09%). Most of the patients happened to attend in casualty hours (5PM-9 AM) than in OPD hours (9 AM - 5 PM). Most cases (30.9%) took pulses in last 48 hours, followed by buffalo milk (20%). Most mothers (n=34) took pulses in diet in last 48 hours. It can be concluded that protein rich diet in one of the factor causing infantile colic. PMID:23360024

  14. Malignant eroticized countertransference.

    PubMed

    Chessick, R D

    1997-01-01

    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

  15. Infantile hemiplegia in pediatric dental set-up

    PubMed Central

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

    2012-01-01

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

  16. The genetic landscape of infantile spasms.

    PubMed

    Michaud, Jacques L; Lachance, Mathieu; Hamdan, Fadi F; Carmant, Lionel; Lortie, Anne; Diadori, Paola; Major, Philippe; Meijer, Inge A; Lemyre, Emmanuelle; Cossette, Patrick; Mefford, Heather C; Rouleau, Guy A; Rossignol, Elsa

    2014-09-15

    Infantile spasms (IS) is an early-onset epileptic encephalopathy of unknown etiology in ?40% of patients. We hypothesized that unexplained IS cases represent a large collection of rare single-gene disorders. We investigated 44 children with unexplained IS using comparative genomic hybridisation arrays (aCGH) (n = 44) followed by targeted sequencing of 35 known epilepsy genes (n = 8) or whole-exome sequencing (WES) of familial trios (n = 18) to search for rare inherited or de novo mutations. aCGH analysis revealed de novo variants in 7% of patients (n = 3/44), including a distal 16p11.2 duplication, a 15q11.1q13.1 tetrasomy and a 2q21.3-q22.2 deletion. Furthermore, it identified a pathogenic maternally inherited Xp11.2 duplication. Targeted sequencing was informative for ARX (n = 1/14) and STXBP1 (n = 1/8). In contrast, sequencing of a panel of 35 known epileptic encephalopathy genes (n = 8) did not identify further mutations. Finally, WES (n = 18) was very informative, with an excess of de novo mutations identified in genes predicted to be involved in neurodevelopmental processes and/or known to be intolerant to functional variations. Several pathogenic mutations were identified, including de novo mutations in STXBP1, CASK and ALG13, as well as recessive mutations in PNPO and ADSL, together explaining 28% of cases (5/18). In addition, WES identified 1-3 de novo variants in 64% of remaining probands, pointing to several interesting candidate genes. Our results indicate that IS are genetically heterogeneous with a major contribution of de novo mutations and that WES is significantly superior to targeted re-sequencing in identifying detrimental genetic variants involved in IS. PMID:24781210

  17. Malignancy and chronic renal failure.

    PubMed

    Peces, Ramon

    2003-01-01

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

  18. [Not diagnosable malignant melanomas].

    PubMed

    Neuber, H; Lippold, A; Hundeiker, M

    1991-04-01

    Of the 3574 malignant melanomas treated in Hornheide between December 1981 and August 1990 (not including preinvasive cases) 97 were not immediately recognized. These tumours did not look like melanomas. In 72% they were smaller than 10 mm in diameter, and in 20%, smaller than 5 mm. Clark's so often quoted "pencil rule" should no longer be used as an aid to exclusion of invasive melanoma. Localization of the unrecognized melanomas was on the head and neck in 22% of cases. In 37%, the patients were under the age of 40 years. No less than 25% of the patients had multiple melanomas. Many of these melanomas. Many of these melanomas were thin tumours (less than 0.75 mm in 55% and less than 1.5 mm in 77%). This explains why more than 50% of the lesions are described as "macules". The most common incorrect diagnoses were dysplastic naevi (44%) and common (23%) naevi. The most important anamnestic criteria are the patients' own statements about changes in size, colour and shape. These "dynamic" elements must be more carefully observed and documented during process of the clinical diagnosis. PMID:1860796

  19. A malignant itch.

    PubMed Central

    Hon, Kam-lun Ellis; Lam, Man-chin Adrian; Leung, Ting-fan; Chik, Ki-wai; Leung, Alexander K. C.

    2006-01-01

    We report an unusual presentation of a previously healthy three-year-old Chinese girl with a four-week history of apparently unexplained generalized intense itch. She had no past history of atopy or xerosis. Despite the severe itch, she had only minimal scratch marks on her right gluteal region but no flexural involvement. The girl was treated as having scabies and eczema and with oral antihistamines by various dermatologists without much improvement. She subsequently presented to a regional hospital with right hip pain and fever. Radiological and histopathological investigations confirmed that she had a peripheral T-cell lymphoma. The itch pattern prior to and following chemotherapy, as documented by the DigiTrac wrist-held movement monitor, showed a dramatic reduction of her nocturnal itch. The pattern was also very different from that of atopic dermatitis in that the scratching was of much higher intensity but lower frequency. Intractable pruritus associated with a peripheral T-cell lymphoma has not been previously reported in the pediatric literature. This report serves to alert clinicians of the gold paradigm that in a patient with an unexplained generalized itch, lymphoma and other malignancies must be considered. Images Figure 1 Figure 2 Figure 3 PMID:17225848

  20. Childhood ovarian malignancy.

    PubMed

    Mahadik, Kalpana; Ghorpade, Kanchanmala

    2014-04-01

    Objective of this article is to appraise diagnostic aspects and treatment modalities in childhood ovarian tumor in background of available evidence. Literature search on Pubmed revealed various aspects of epidemiology, histopathological diagnosis, and treatment of pediatric ovarian tumor. 85 % of childhood tumors are germ cell tumors. The varied histopathological picture in germ cell tumors poses a diagnostic and therapeutic challenge. Immunohistochemistry and newer genetic markers like SALL4 and karyopherin-2 (KPNA2) have been helpful in differentiating ovarian yolk sac tumor from dysgerminoma, teratomas, and other pictures of hepatoid, endometrioid, clear cell carcinomatous, and adenocarcinomatous tissues with varied malignant potential. Before platinum therapy, these tumors were almost fatal in children. Fertility-conserving surgery with bleomycin, etoposide, and cisplatin has dramatically changed the survival rates in these patients. This modality gives cancer cure with healthy offspring to female patients with childhood ovarian tumor. Evidence also supports this protocol resulting in successful pregnancy rates and safety of cytotoxic drugs in children born to these patients. PMID:24757335

  1. Urinary markers of malignancy.

    PubMed

    Koenig, F; Jung, K; Schnorr, D; Loening, S A

    2000-07-01

    Transitional cell carcinoma (TCC) is the second most common malignancy in the genitourinary tract. The majority of urothelial tumors are superficial when the patient first presents, but despite adequate resection of the primary lesion the recurrence rate is particularly high. In a small but significant group of patients the tumor is primary invasive or subsequently can progress and leads to death. Voided urine can be easily obtained and therefore diagnostic urine tests would be ideal for screening or follow up of TCC. Although many urinary markers have been described, none of them is used routinely in clinical practice. Promising tumor markers still need to be evaluated in multi-center clinical studies. Larger prospective trials are necessary in order to identify prognostic indicators that would help to predict disease progression or response to different treatment modalities (BCG, chemo-, radiotherapy, etc.). Hopefully, new diagnostic urine tests will allow to identify patients who will most benefit from early cystectomy with or without adjuvant treatment, bladder sparing protocols or systemic treatment. In this paper we have reviewed the literature and discuss, from the clinician's point of view, the current status of various diagnostic tests for urinary markers. [Lee SJ, Lee WE, Chang SG, Lee CH, Kim JI. A comparative study of telomerase, Lewis X, BTA, NMP22 and urinary cytology in bladder tumor. J Urol 1999;161(suppl):152.] PMID:10841921

  2. [Neuroleptic malignant syndrome].

    PubMed

    Chodorowski, Zygmunt; Anand, Jacek Sein; Rutkowski, Przemys?aw

    2003-01-01

    Neuroleptic malignant syndrome (NMS) is the most dangerous side effect of phenothiazines therapy. In the period of time from 1995 to 2002 in the Intensive Toxicological Unit there were five patients, 3 men and 2 women, aged from 25 to 62 (average 44.2) years-old, admitted from the regional inpatients psychiatric units with the diagnosis of pneumonia and/or sepsis. The patients about 48-72 hours before admittance were given some phenotiazine derivatives (promazine, perphenazine, clozapine, pipamperon) and/or buthyrophenone (haloperidol) because of psychotic state. Altered consciousness, muscle rigidity, hyperpyrexia (39.0-41.0 degrees C), sweating, tachycardia (120-150/min.), tachypnoea (respiratory rate more than 25/min.) and high level of creatine kinase activity (23,751-112,288 U/l) dominated. Only one patient had clinical picture of pneumonia. Because of the rapid development of acute respiratory failure, respirathorotherapy was initiated and continued for 8 and 10 days in two patients respectively. Transient thrombocytopenia (26,000/microliter) in one subject was observed. The neuroleptic drug was withdrawn and intensive supportive care with administration of bromocriptine (15-20 mg/24 h) was provided. None one of the doctors told the patients about the possibility of NMS during phenothiazines therapy. PMID:14569909

  3. Malignant external otitis: CT evaluation

    SciTech Connect

    Curtin, H.D.; Wolfe, P.; May, M.

    1982-11-01

    Malignant external otitis is an aggressive infection caused by Pseudomonas aeruginosa that most often occurs in elderly diabetics. Malignant external otitis often spreads inferiorly from the external canal to involve the subtemporal area and progresses medially towards the petrous apex leading to multiple cranial nerve palsies. The computed tomographic (CT) findings in malignant external otitis include obliteration of the normal fat planes in the subtemporal area as well as patchy destruction of the bony cortex of the mastoid. The point of exit of the various cranial nerves can be identified on CT scans, and the extent of the inflammatory mass correlates well with the clinical findings. Four cases of malignant external otitis are presented. In each case CT provided a good demonstration of involvement of the soft tissues at the base of the skull.

  4. 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.

  5. Ibrutinib for B cell malignancies

    PubMed Central

    2014-01-01

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

  6. AMG 319 Lymphoid Malignancy FIH

    ClinicalTrials.gov

    2016-01-20

    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

  7. Malignant hyperthermia: a review.

    PubMed

    Rosenberg, Henry; Pollock, Neil; Schiemann, Anja; Bulger, Terasa; Stowell, Kathryn

    2015-01-01

    Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane, isoflurane and the depolarizing muscle relaxant succinylcholine, and rarely, in humans, to stressors such as vigorous exercise and heat. The incidence of MH reactions ranges from 1:10,000 to 1: 250,000 anesthetics. However, the prevalence of the genetic abnormalities may be as great as one in 400 individuals. MH affects humans, certain pig breeds, dogs and horses. The classic signs of MH include hyperthermia, tachycardia, tachypnea, increased carbon dioxide production, increased oxygen consumption, acidosis, hyperkalaemia, muscle rigidity, and rhabdomyolysis, all related to a hypermetabolic response. The syndrome is likely to be fatal if untreated. An increase in end-tidal carbon dioxide despite increased minute ventilation provides an early diagnostic clue. In humans the syndrome is inherited in an autosomal dominant pattern, while in pigs it is autosomal recessive. Uncontrolled rise of myoplasmic calcium, which activates biochemical processes related to muscle activation leads to the pathophysiologic changes. In most cases, the syndrome is caused by a defect in the ryanodine receptor. Over 400 variants have been identified in the RYR1 gene located on chromosome 19q13.1, and at least 34 are causal for MH. Less than 1 % of variants have been found in CACNA1S but not all of these are causal. Diagnostic testing involves the in vitro contracture response of biopsied muscle to halothane, caffeine, and in some centres ryanodine and 4-chloro-m-cresol. Elucidation of the genetic changes has led to the introduction of DNA testing for susceptibility to MH. Dantrolene sodium is a specific antagonist and should be available wherever general anesthesia is administered. Increased understanding of the clinical manifestation and pathophysiology of the syndrome, has lead to the mortality decreasing from 80 % thirty years ago to <5 % in 2006. PMID:26238698

  8. [Biomarker in gynecologic malignancies].

    PubMed

    Isonishi, Seiji

    2004-07-01

    We selected ovarian cancer as being the most representative of the gynecologic malignancies since it has the largest number of tumor markers now in clinical use. First, variety of serum tumor markers were developed and regularly used to detect the existence of ovarian cancer and its stage. These markers of monoclonal antibodies could detect three different classes of cell surface antigen. CA 125, CA 130, CA 602 are antibodies raised against the core protein of the proteoglycan molecule, whereas CA 19-9, CA 50, KMO-1 and CA 72-4, STN, CA 546 are antibodies against a different portion of the glycosaminoglycan chain from the core protein. These markers, when combined with another group of tumor markers for discriminating the variety of pathological types of ovarian cancer, might have the potential to provide a better predictive value. Second, biomarkers for the detection of early-stage ovarian cancer are urgently needed and developed also in gynecologic tumors. These include a ovarian cancer-specific proteomic patterns generated by mass spectroscopy and single nucleotide polymorphism (SNP) digital analysis combined with assessment of allelic imbalance. Third, for monitoring the effect of treatment with cytostatic drugs, various types of biomarkers could be used as surrogate markers for the treatment depending on the mechanism of the effects of the drug used. For treatment with Bryostatin, a strong protein kinase C (PKC) stimulator, PKC activity promises to be an effective marker. For the trials with bevacizumab, anti-VEGF antibody, VEGF and its associated bFGF, CD-31, and thrombospondin-1 (TSP-1), are leading candidates for monitoring markers. PMID:15272576

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

    ERIC Educational Resources Information Center

    Pellock, John

    2011-01-01

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

  10. [Role of intensive care consulting centers in reducing infantile mortality].

    PubMed

    Aleksandrovich, Iu S; Pshenisnov, K V; Parshin, E V; Cherevatenko, R I; Gordeev, V I

    2009-01-01

    The paper describes the major tasks, functions, and structure of intensive care consulting centers (ICCC), gives the variables characterizing the activities of ICCC, analyzes their impact on infantile mortality rates in a large region, by using the Leningrad Region as an example, and shows it necessary to set up an ICCC in all regions of the Russian Federation. PMID:19348330

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

    ERIC Educational Resources Information Center

    Sanua, Victor D.

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

  12. Alexander disease with mild dorsal brainstem atrophy and infantile spasms.

    PubMed

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

    2013-05-01

    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

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

    ERIC Educational Resources Information Center

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

    2007-01-01

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

  14. Molecular genetics of infantile-onset retinal dystrophies.

    PubMed

    Moradi, P; Moore, A T

    2007-10-01

    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

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

    ERIC Educational Resources Information Center

    Pellock, John

    2011-01-01

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

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

    ERIC Educational Resources Information Center

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

    2007-01-01

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

  17. Killian's polyp mimicking malignant tumor

    PubMed Central

    Thakur, Jagdeep S.; Chaitanya, Avinash; Minhas, R. S.; Azad, R. K.; Sharma, D. R.; Mohindroo, N. K.

    2015-01-01

    Killian polyp is predominantly found in children and any sinonasal tumor in elderly presenting with epistaxis and pain usually indicates malignant growth until proved otherwise. We present an unusual case of Killian polyp in an elderly patient that behaved as a malignant tumor. This case report reminded us that paranasal sinuses are still dark hollow mysterious cavities, and we should take utmost clinical acumen in managing such cases.

  18. [Malignant tumours of the hand].

    PubMed

    Knudsen, Britt Mejer; Rasmussen, Per Joen Svabo; Lausten, Gunnar Schwarz; Jensen, Nina Vendel; Søe, Niels Henrik

    2011-05-30

    Malignant tumours of the hand are rare and are often misdiagnosed. A painful swelling of the hand or digits are often diagnosed with an infection, benign tumours such as ganglion cysts, or arthritis. Wounds that do not heal despite adequate treatment should be biopsied to rule out malignancy. A correct diagnosis without delay is important because the life expectancy, due to a metastasis on the hand or fingers is approximately six months. PMID:21627901

  19. Serous and seromucinous infantile ovarian cystadenomas--a study of 42 cases.

    PubMed

    Massicot, Richard; Rousseau, Véronique; Darwish, Ahmed A; Sauvat, Frédérique; Jaubert, Francis; Nihoul-Fékété, Claire

    2009-01-01

    The rarity of infantile ovarian cystadenoma (CA) accounts for the very little knowledge about their behaviour. The aim of this retrospective study is to highlight the modes of presentation and to evaluate the treatments and the recurrence risks of these benign tumours. Relation to adult epithelial ovarian tumours is discussed. The medical records and imaging studies of 42 CA in 31 children less than 16 years of age operated at our institution between 1985 and 2003 were retrospectively evaluated. Mean age of first surgery was 11.5 years. 7/31 girls (22.6%) presented with a bilateral CA, four of them were synchronous. 8/42 (19%) CA were in torsion at surgery, conservative management was possible in four cases. 31/42 (74%) CA were treated conservatively. 4/42 CA recurred 1-3.5 years after complete cyst removal. All were endocervical type CA, there was no intestinal type. The 42 CA were serous in 18/42, mucinous in 23/42 and unqualified in one. Mucinous epithelial cells were often sparse and focal along the cyst wall. Four CA presented with micropapillae in post-pubertal girls. No borderline tumours were observed. Mucinous cystadenomas (MCA) are better described as seromucinous cystadenoma (SMCA) because of the mucinous cells localisation. CA occurs early in life, we surmise that they may need hormonal stimulation to develop micropapillae. Complete removal of these potentially low-grade malignant ovarian tumours precursors is advocated. Conservative surgery is recommended to preserve ovarian function. PMID:18996636

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

    ERIC Educational Resources Information Center

    Foley, Megan

    2012-01-01

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

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

    ERIC Educational Resources Information Center

    Foley, Megan

    2012-01-01

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

  2. [Malignancies in patients on dialysis].

    PubMed

    Motán, J; Krízek, M; Fínek, J; Mukensnabl, P

    2005-01-01

    Incidence of malignancies in patients on dialysis is higher than in the comparable population. The topic is discussed from different points of view: A. Malignancy as a cause of renal failure (renal and urinary tract tumors, von Hippel-Lindau disease, Wilms tumor, multiple myeloma, tumors that compress urinary tract). B. Treatment of malignancies may result in renal failure and dialysis (nephrectomy, tumor-lysis syndrome, postradiation fibrosis, direct toxic effect of chemotherapy). C. Dialyzed patients are in higher risk of malignancies, especially those of the kidney and urinary tract but also of pharynx and larynx, thyroid gland etc. The following factors may play some roles: the basic disease, (e.g. analgesic and Balcan nephropathies, China Herba nephropathy etc.), changed metabolic milieu with retention of carcinogens, deficiency of selenium and other substances, acquired renal cysts, compromised immunity, decreased "wash-effect" in oligo-anuria and possible influence of dialysis itself (contact with phtalates, ethylenoxide, nitrosamines etc.). D. Special problems in diagnostics of malignancies. Controversial validity of s.c. "tumor markers" is mentioned. Among the causes of death in dialyzed patients cardiovascular and infectious diseases predominate. The active search for renal and urinary tract tumors should be performed. All other diagnostic procedures depend on the individual patient's risk profile. E. Methods of renal substitution are used in the treatment of malignancies (e.g. dialysis in the tumor-lysis syndrome, plasma filtration to remove paraproteins, intraperitoneal administration of chemotherapy similar to peritoneal dialysis approach). F. Malignant tumors and dialysis--some ethical problems. Withdrawal of dialysis in severely suffering patients should be approved by an informed patient and followed by maximal palliative therapy including palliative ultrafiltration if threat of lung edema occurs. PMID:16013514

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

    PubMed

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

    2014-12-26

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

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

    PubMed Central

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

    2006-01-01

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

  5. CT of malignant pleural mesothelioma

    SciTech Connect

    Mirvis, S.; Dutcher, J.P.; Haney, P.J.; Whitley, N.O.; Aisner, J.

    1983-04-01

    The CT scans, plain films, and clinical courses of nine patients with malignant pleural mesothelioma were reviewed to assess the value of computed tomography (CT) in the initial evalation and follow-up of this malignancy. The initial pretreatment scans showed a typical lobulated rind of pleural tumor encasing the lung associated with variable amounts of pleural fluid. Local invasion of the mediastinum, pericardium, diaphragm, and contralateral thorax were well depicted on CT; unsuspected abdominal extension of tumor was demonstrated on CT scans of five patients. Serial scans during treatment provided objective evidence of either regression or growth of tumor mass, even when the patients' clinical status and plain films appeared stable.

  6. Lung Malignancies in HIV Infection.

    PubMed

    Sigel, Keith; Pitts, Robert; Crothers, Kristina

    2016-04-01

    Pulmonary malignancies are a major source of morbidity and mortality in HIV-infected persons. Non-AIDS-defining lung cancers (mostly non-small cell lung cancers) are now a leading cause of cancer death among HIV-infected persons. HIV-associated factors appear to affect the risk of lung cancer and may adversely impact cancer treatment and outcomes. HIV infection also may modify the potential harms and benefits of lung cancer screening with computed tomography. AIDS-defining lung malignancies include pulmonary Kaposi sarcoma and pulmonary lymphoma, both of which are less prevalent with widespread adoption of antiretroviral therapy. PMID:26974303

  7. Neonatal and Infantile Epilepsy: Acquired and Genetic Models.

    PubMed

    Galanopoulou, Aristea S; Moshé, Solomon L

    2015-01-01

    The incidence of seizures and epilepsies is particularly high during the neonatal and infantile periods. We will review selected animal models of early-life epileptic encephalopathies that have addressed the dyscognitive features of frequent interictal spikes, the pathogenesis and treatments of infantile spasms (IS) or Dravet syndrome, disorders with mammalian target of rapamycin (mTOR) dysregulation, and selected early-life epilepsies with genetic defects. Potentially pathogenic mechanisms in these conditions include interneuronopathies in IS or Dravet syndrome and mTOR dysregulation in brain malformations, tuberous sclerosis, and related genetic disorders, or IS of acquired etiology. These models start to generate the first therapeutic drugs, which have been specifically developed in immature animals. However, there are challenges in translating preclinical discoveries into clinically relevant findings. The advances made so far hold promise that the new insights may potentially have curative or disease-modifying potential for many of these devastating conditions. PMID:26637437

  8. Osteomyelitis of Maxilla in Infantile With Periorbital Cellulitis

    PubMed Central

    Feng, Zhiqiang; Chen, Xufeng; Cao, Fengdi; Lai, Renfa; Lin, Qiang

    2015-01-01

    Abstract Infantile osteomyelitis (IO) is an uncommon and life-threatening disease that can be misdiagnosed. Early diagnosis and treatment can reduce the incidence of sequel. In this case report, we present a 25-day-old male infant with apparent edema in the entire left periorbital region. Intraorally, the edema occurred in the mucosa of the upper left alveolar region, and 2 draining fistulas with exuded yellow-white pus were present in the left alveolar region. The patient received constant monitoring after admission, and was diagnosed as IO of the maxilla with periorbital cellulitis and sepsis. He also received incision and drainage and anti-inflammatory treatment. After discharge, the patient was followed up for 3 months by phone call, but no recurrence of symptoms was found. Infantile osteomyelitis is rare in clinic. This case report reminds us of the significance of IO and provides some implications on its diagnosis and treatment. PMID:26448016

  9. 17q21.31 microdeletion associated with infantile spasms.

    PubMed

    Wray, Carter D

    2013-01-01

    Patients with 17q21.31 microdeletions frequently have neurologic abnormalities, especially seizures. This report is of a child with a deletion in this location who developed infantile spasms, a seizure type not specifically described in this syndrome. FISH analysis of parental blood metaphases demonstrated that the deletions occurred de novo. The deleted region encompasses the previously defined critical region for the 17q21.31 microdeletion syndrome, and includes the gene encoding for corticotropin-releasing hormone receptor 1, a protein implicated in hyperexcitability, and potentially in infantile spasms. Treatment with ACTH led to spasm cessation, consistent with its expected repression of CRH levels, which should be augmented by CRHR1 deletion, although this response was transient. PMID:23123321

  10. Alpha 1-antitrypsin deficiency and infantile liver disease.

    PubMed Central

    McPhie, J L; Binnie, S; Brunt, P W

    1976-01-01

    Infantile liver disease with deficiency of serum alpha1-antitrypsin is illustrated by a description of the clinical, biochemical, and pathological findings in two affected families. The simplicity of the diagnostic tests is emphasized. Review of 61 biopsies of liver from children and adolescents provided a further 3 cases. It is prudent to exclude this metabolic defect in children with a history of "neonatal hepatitis". Images FIG. 1 FIG. 2 PMID:1085610

  11. Breast Hypoplasia as a Complication of an Untreated Infantile Hemangioma.

    PubMed

    Theiler, Martin; Hoffman, William Y; Frieden, Ilona J

    2016-03-01

    We report the case of a mixed infantile hemangioma (IH) involving the right breast that resulted in pronounced hypoplasia of the affected breast, which became apparent after breast development at puberty. No treatment had been performed in infancy or childhood. This case demonstrates that the presence of an IH may affect development of the mammary gland bud and that systemic therapy should be considered in an attempt to minimize this adverse sequela. PMID:26763884

  12. Infantile Marfan syndrome in a Korean tertiary referral center

    PubMed Central

    Seo, Yeon Jeong; Lee, Ko-Eun; Kwon, Bo Sang; Bae, Eun Jung; Noh, Chung Il

    2016-01-01

    Purpose Infantile Marfan syndrome (MFS) is a rare congenital inheritable connective tissue disorder with poor prognosis. This study aimed to evaluate the cardiovascular manifestations and overall prognosis of infantile MFS diagnosed in a tertiary referral center in Korea. Methods Eight patients diagnosed with infantile MFS between 2004 and 2014 were retrospectively evaluated. Results Their median age at the time of diagnosis was 2.5 months (range, 0–20 months). The median follow-up period was 25.5 months (range, 0–94 months). The median length at birth was 50.0 cm (range, 48–53 cm); however, height became more prominent over time, and the patients were taller than the 97th percentile at the time of the study. None of the patients had any relevant family history. Four of the 5 patients who underwent DNA sequencing had a fibrillin 1 gene mutation. All the patients with echocardiographic data of the aortic root had a z score of >2. All had mitral and tricuspid valve prolapse, and various degrees of mitral and tricuspid regurgitation. Five patients underwent open-heart surgery, including mitral valve replacement, of whom two required multiple operations. The median age at mitral valve replacement was 28.5 months (range, 5–69 months). Seven patients showed congestive heart failure before surgery or during follow-up, and required multiple anti-heart failure medications. Four patients died of heart failure at a median age of 12 months. Conclusion The prognosis of infantile MFS is poor; thus, early diagnosis and timely cautious treatment are essential to prevent further morbidity and mortality. PMID:26958064

  13. Validation of the rat model of cryptogenic infantile spasms

    PubMed Central

    Chachua, Tamar; Yum, Mi-Sun; Velíšková, Jana; Velíšek, Libor

    2011-01-01

    Purpose To determine whether a new model of cryptogenic infantile spasms consisting of prenatal priming with betamethasone and postnatal trigger of spasms by N-methyl-D-aspartic acid responds to chronic ACTH treatment, and has similar EEG signature, efficacy of treatments, and behavioral impairments as human infantile spasms. Methods Rats prenatally primed with betamethasone on gestational day 15 were used. Spasms were triggered with N-methyl-D-aspartic acid between postnatal days (P) 10-15 in a single session or in multiple sessions in one subject. The expression of spasms was compared to prenatally saline-injected controls. Effects of relevant treatments (ACTH, vigabatrin, methylprednisolone, rapamycin) were determined in betamethasone-primed rats. In the rats after spasms, behavioral evaluation was performed in the open field and and elevated plus maze on P20-22. Key Findings NMDA at P10-15 (the rat “infant” period) triggers the spasms significantly earlier and in greater numbers in the prenatal betamethasone-exposed brain compared to controls. Similar to human condition, the spasms occur in clusters. Repeated trigger of spasms is associated with ictal EEG electrodecrements and interictal large-amplitude waves, a possible rat variant of hypsarrhythmia. Chronic ACTH treatment in a randomized experiment, and chronic pretreatment with methylprednisolone significantly suppress number of spasms similar to human condition. Pretreatment with vigabatrin, but not rapamycin, suppressed the spasms. Significant behavioral changes occurred following multiple bouts of spasms. Significance The model of infantile spasms has remarkable similarities with the human condition in semiology, EEG, pharmacological response, and long-term outcome. Thus, the model can be used for search of novel and more effective treatments for infantile spasms. PMID:21854372

  14. Assessment of Infantile Mineral Imbalances in Autism Spectrum Disorders (ASDs)

    PubMed Central

    Yasuda, Hiroshi; Tsutsui, Toyoharu

    2013-01-01

    The interactions between genes and the environment are now regarded as the most probable explanation for autism. In this review, we summarize the results of a metallomics study in which scalp hair concentrations of 26 trace elements were examined for 1,967 autistic children (1,553 males and 414 females aged 0–15 years-old), and discuss recent advances in our understanding of epigenetic roles of infantile mineral imbalances in the pathogenesis of autism. In the 1,967 subjects, 584 (29.7%) and 347 (17.6%) were found deficient in zinc and magnesium, respectively, and the incidence rate of zinc deficiency was estimated at 43.5% in male and 52.5% in female infantile subjects aged 0–3 years-old. In contrast, 339 (17.2%), 168 (8.5%) and 94 (4.8%) individuals were found to suffer from high burdens of aluminum, cadmium and lead, respectively, and 2.8% or less from mercury and arsenic. High toxic metal burdens were more frequently observed in the infants aged 0–3 years-old, whose incidence rates were 20.6%, 12.1%, 7.5%, 3.2% and 2.3% for aluminum, cadmium, lead, arsenic and mercury, respectively. These findings suggest that infantile zinc- and magnesium-deficiency and/or toxic metal burdens may be critical and induce epigenetic alterations in the genes and genetic regulation mechanisms of neurodevelopment in the autistic children, and demonstrate that a time factor “infantile window” is also critical for neurodevelopment and probably for therapy. Thus, early metallomics analysis may lead to early screening/estimation and treatment/prevention for the autistic neurodevelopment disorders. PMID:24284360

  15. Infantile myofibroma: a firm, round plaque in an infant.

    PubMed

    Amano, Shinya; Halsey, Mark; Yasuda, Mariko; O'Donnell, Patrick; Csikesz, Courtney

    2015-01-01

    Infantile myofibroma is a rare fibromatous tumor that is variable in presentation and is frequently mistaken for hemangioma or rhabdomyosarcoma. We describe a 14-month-old male who presented with multiple, enlarging, firm lesions on the shoulder. Biopsy revealed a proliferation of small spindle cells with myxoid and hyalinized stroma infiltrating into the superficial adipose tissue. We provide a brief review of the clinical presentation, histopathologic features, management and recent advances in our understanding of this rare condition. PMID:26632798

  16. Environmental risk factors for early infantile atopic dermatitis.

    PubMed

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

    2007-08-01

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

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

    SciTech Connect

    Sharp, J.; Wheeler, R.B.; Jaervelae, I.

    1995-06-05

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

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

    PubMed

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

    2013-10-01

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

  19. Acupuncture in practice: investigating acupuncturists' approach to treating infantile colic.

    PubMed

    Landgren, Kajsa

    2013-01-01

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

  20. Skin Manifestations of Internal Malignancy

    PubMed Central

    Donsky, Howard J.

    1978-01-01

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

  1. The Origin of Malignant Malaria

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  2. Cutaneous malignancies of the perineum.

    PubMed

    Carr, David; Pootrakul, Llana; Harmon, Jenna; Trotter, Shannon

    2015-03-01

    This review discusses multiple cutaneous malignancies that can present on the perineum. Although all of these neoplasms are uncommon, a focus will be on the more common neoplasms including extramammary Paget disease, basal cell carcinoma, squamous cell carcinoma, and melanoma. Other more rare entities discussed are superficial leiomyosarcoma, giant solitary trichoepithelioma, and cutaneous endometriosis. PMID:25517758

  3. Leukoplakia: A short review on malignant potential

    PubMed Central

    Masthan, K. M. K.; Babu, N. Aravindha; Sankari, S. Leena; Priyadharsini, C.

    2015-01-01

    Oral leukoplakia is one of the most common potentially malignant disorders. Right diagnosis of potentially malignant disorders may help to prevent these lesions from malignant transformation. Proper understanding, recognizing, identification and differentiating these lesions from normal mucosa are necessary for proper treatment. PMID:26015699

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed

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

    2015-08-01

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

  6. [Orbital metastasis in malignant melanoma].

    PubMed

    Pedroli, G L; Hamedani, M; Barraco, P; Oubaaz, A; Morax, S

    2001-03-01

    We report the case of a 60-year-old man presenting bilateral progressive proptosis with diplopia, weight loss, tachycardia, nervosity, and stomach pain. These signs seemed at first to favor a diagnosis of Graves'ophthalmopathy. Thyroid tests were negative and the initial orbital CT scan was considered normal. A new radiological investigation 4 months later in our hospital revealed typical hypertrophy of the extraocular muscles compatible with orbital metastasis. The systemic investigations demonstrated a pulmonary tumor, multiple hepatic lesions, and several pigmented nodules of gastric mucosa. The pathology of pulmonary and gastric specimens confirmed the diagnosis of malignant melanoma. The primary lesion remains unknown. The authors discuss the differential diagnoses of orbital metastasis and the radiological characteristics of orbital metastasis in malignant melanoma. PMID:11285445

  7. [Histological spectrum of malignant melanoma].

    PubMed

    Brenn, T

    2015-02-01

    The diagnosis of melanocytic tumors is one of the most problematic areas in dermatology and diagnostic pathology. Melanoma is a malignant melanocytic tumor and the risk for metastasis and associated mortality is mainly dependent on tumor thickness and depth of invasion. Early recognition and correct diagnosis is therefore important for successful and effective treatment. The correct diagnosis of melanoma is, however, challenging due to the wide morphological spectrum. Historically, the disease was subdivided into superficial spreading, nodular, lentigo maligna and acral lentiginous melanoma but many more subtypes have subsequently been added. Some of these melanoma variants also show differences relating to the genetic background, clinical presentation, prognosis and treatment and may be associated with a specific differential diagnosis. In this article four of these melanoma variants, desmoplastic melanoma, nevoid melanoma, malignant blue nevus and pigment synthesizing melanoma will be discussed in more detail. PMID:25589353

  8. Gastrointestinal Malignancy and the Microbiome

    PubMed Central

    Abreu, Maria T.; Peek, Richard M.

    2014-01-01

    Microbial species participate in the genesis of a substantial number of malignancies—in conservative estimates, at least 15% of all cancer cases are attributable to infectious agents. Little is known about the contribution of the gastrointestinal (GI) microbiome to the development of malignancies. Resident microbes can promote carcinogenesis by inducing inflammation, increasing cell proliferation, altering stem cell dynamics, and producing metabolites such as butyrate, which affect DNA integrity and immune regulation. Studies in humans and rodent models of cancer have identified effector species and relationships among members of the microbial community in the stomach and colon that increase the risk for malignancy. Strategies to manipulate the microbiome, or the immune response to such bacteria, could be developed to prevent or treat certain GI cancers. PMID:24406471

  9. Vulvar malignancy in neurofibromatosis syndrome.

    PubMed

    Musella, Angela; Palaia, Innocenza; Domenici, Lavinia; Casorelli, Assunta; Martoccia, Angela; Benedetti Panici, Pierluigi

    2013-01-01

    Type 1 neurofibromatosis (NF1) is a dominantly inherited neurologic disorder that affects primarily the skin, bones, and peripheral nervous system. It may be associated with a variety of clinical manifestations including cafe-au-lait spots, skinfold freckling, Lisch nodules, and visceral neurofibromas. Individuals affected by NF1 harbor an increased risk for both benign and malignant tumors. Malignant transformation is usually observed in the form of neurosarcoma. Rarely, NF1 affects the genital tract, and isolated vulvar localization is extremely rare. Here is reported a rare case of a solitary neurosarcoma of the vulva in a 43-year-old woman affected by NF1 syndrome treated with surgical excision. The purpose of this case is to underline the possibility of association between NF1 and genital tract sarcoma and to suggest an accurate evaluation of rapid growth vulvar mass in this setting. PMID:24167749

  10. Protein Ubiquitination in Lymphoid Malignancies

    PubMed Central

    Yang, Yibin; Staudt, Louis M.

    2014-01-01

    Summary Human lymphoid malignancies inherit gene expression networks from their normal B-cell counterpart and co-opt them for their own oncogenic purpose, which is usually governed by transcriptional factors and signaling pathways. These transcriptional factors and signaling pathways are precisely regulated at multiple steps, including ubiquitin modification. With a function involved in almost all cellular events, protein ubiquitination plays a role in many human diseases. In the past few years, multiple studies have expanded the role of ubiquitination in the genesis of diverse lymphoid malignancies. Here we discuss our current understanding of both proteolytic and nonproteolytic functions of the protein ubiquitination system and describe how it is involved in the pathogenesis of human lymphoid cancers. Lymphoid-restricted ubiquitination mechanisms, including ubiquitin E3 ligases and deubiquitinating enzymes, provide great opportunities for the development of targeted therapies for lymphoid cancers. PMID:25510281

  11. Cardiac Autonomic Dysfunction in Patients With Infantile Spasm and the Effect of Adrenocorticotropic Hormone Treatment.

    PubMed

    Gencpinar, Pinar; Kocabas, Abdullah; Duman, Özgür; Dündar, Nihal Olgaç; Haspolat, Senay; Kardelen, F?rat

    2016-02-01

    Infantile spasm is an age-dependent epileptic-encephalopathy syndrome. Cardiac autonomic function is frequently altered in epilepsy. In this study, we examined heart rate variability in patients with infantile spasm before and after treatment. Nineteen patients with infantile spasm and 13 healthy comparisons were enrolled in the study. Cardiac rhythm was recorded with a Holter device for 24 hours before adrenocorticotropic hormone (ACTH) (Synacthen depot) and B6 vitamin administration and 1 month after treatment. Heart rate variability analysis found lower heart rate variability parameters in patients with infantile spasm at the onset of the syndrome, prior to treatment with ACTH. The time domain parameters of heart rate variability values showed a statistically significant increase following ACTH treatment. Our data suggest that patients with infantile spasm exhibit lower heart rate variability parameters, and the treatment of spasms with ACTH and B6 together diminished the autonomic dysfunction in our cohort. PMID:25953826

  12. Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: a case report.

    PubMed

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

    2015-02-01

    Infantile neuroaxonal dystrophy is a rare neurodegenerative disorder characterized by infantile onset and rapid progression of psychomotor regression and hypotonia evolving into spasticity and dementia. Although nystagmus is a well-established neurological sign in infantile neuroaxonal dystrophy, it is mainly described as pendular and noticed in later stages of the disease. We report a 13-month-old girl with infantile neuroaxonal dystrophy harboring a compound heterozygous mutation in the PLA2G6 gene with downbeat nystagmus as the only presenting symptom. Our case indicates that downbeat nystagmus can be a rare but very early onset sign of cerebellar involvement in infantile neuroaxonal dystrophy and can anticipate the appearance of psychomotor regression and neuroradiological abnormalities. PMID:24800972

  13. Multidisciplinary approach to malignant gliomas.

    PubMed

    Saris, S

    1996-06-01

    Primary malignant brain tumors are among the most difficult human malignancies to manage. Other common tumors such as in the lung or breast generally can be cured if caught at an early stage. A 2 cm adenocarcinoma in the peripheral lung field without mediastinal or systemic metastasis can be cured. A small breast carcinoma which has not invaded into the regional lymph nodes can generally be removed with the expectation of permanent control. However, a 1 cm glioblastoma in the anterior right frontal lobe, even with gross total resection and maximum adjunctive radiation, will recur and cause death within a year or two. There is no realistic possibility of cure or even long-term survival. These patients pose unusual management problems. They require different medications such as anticonvulsants and steroids. There are neurocognitive problems and the quality of life is usually worse than for the other common malignancies. They require a multidisciplinary approach with health care providers skilled in a variety of disciplines. Malignant gliomas have two components. There is the main bulk of the tumor (the ring enhancing portion seen on the MRI) and the infiltrating portion than cannot be seen by any imaging method. Local control has improved over the past ten years, but control of the infiltrating portion is still lacking. It is likely that some form of biologic approach will be needed to seek out and kill these infiltrating cells that travel with such ease within the white matter tracts of the brain. Perhaps selective delivery of self-destruct genes to these cells will be possible. Perhaps the search and destroy potential of the immune system can be harnessed. If so, this incurable cancer may some day be brought under control. The effort involved will be extensive both in the laboratory and in the clinic. PMID:8797316

  14. Proliferation indices in malignant lymphomas.

    PubMed Central

    Crocker, J

    1989-01-01

    In view of the importance of adjusting therapy to prognostic groups in malignant lymphomas, there have been numerous attempts over the past two decades to assess proliferation rates in these neoplasms. The techniques employed include radiolabelled thymidine uptake, DNA flow cytometry, the application of antibodies to proliferation-associated antigens and the enumeration of nucleolar organizer regions. The evolution of these methods is reviewed and their usefulness is evaluated. PMID:2680181

  15. Endobronchial metastases from extrathoracic malignancies.

    PubMed

    Akoglu, Sebahat; Uçan, Eyüp S; Celik, Gülperi; Sener, Gülper; Sevinç, Can; Kilinç, O?uz; Itil, Oya

    2005-01-01

    Endobronchial metastases (EBM) from extrapulmonary malignant tumors are rare. The most common extrathoracic malignancies associated with EBM are breast, renal and colorectal carcinomas. In this study, we aimed to evaluate the clinical, radiographic and bronchoscopic aspects of patients with EBM who were diagnosed between 1992 and 2002. Data about patients' clinical conditions, symptoms, radiographic and endoscopic findings, and histopathological examination results were investigated. EBM was defined as bronchoscopically visible lesions histopathologically identical to the primary tumor in patients with extrapulmonary malignancies. We found 15 cases with EBM. Primary tumors included breast (3), colorectal (3), and renal (2) carcinomas; Malignant Melanoma (2); synovial sarcoma (1), ampulla of Vater adenocarcinoma (1), pheochromocytoma (1), hypernephroma (1), and Hodgkin's Disease (1). The most common symptoms were dyspnea (80%), cough (66.6%) and hemoptysis (33.3%). Multiple (40%) or single (13.3%) pulmonary nodules, mediastinal or hilar lymphadenopathy (40%), and effusion (40%) were the most common radiographic findings. The mean interval from initial diagnosis to diagnosis of EBM was 32.8 months (range, 0-96 months) and median survival time was 18 months (range, 4-84). As a conclusion, various extrapulmonary tumors can metastasize to the bronchus. Symptoms and radiographic findings are similar with those in primary lung cancer. Therefore, EBM should be discriminated from primary lung cancer histopathologically. Although mean survival time is usually short, long-term survivors were reported. Consequently, treatment must be planned according to the histology of the primary tumor, evidence of metastasis to other sites and medical status of the patient. PMID:16475029

  16. Malignant cancer and invasive placentation

    PubMed Central

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

    2014-01-01

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

  17. Targeting hedgehog in hematologic malignancy.

    PubMed

    Irvine, David A; Copland, Mhairi

    2012-03-01

    The Hedgehog pathway is a critical mediator of embryonic patterning and organ development, including hematopoiesis. It influences stem cell fate, differentiation, proliferation, and apoptosis in responsive tissues. In adult organisms, hedgehog pathway activity is required for aspects of tissue maintenance and regeneration; however, there is increasing awareness that abnormal hedgehog signaling is associated with malignancy. Hedgehog signaling is critical for early hematopoietic development, but there is controversy over its role in normal hematopoiesis in adult organisms where it may be dispensable. Conversely, hedgehog signaling appears to be an important survival and proliferation signal for a spectrum of hematologic malignancies. Furthermore, hedgehog signaling may be critical for the maintenance and expansion of leukemic stem cells and therefore provides a possible mechanism to selectively target these primitive cell subpopulations, which are resistant to conventional chemotherapy. Indeed, phase 1 clinical trials of hedgehog pathway inhibitors are currently underway to test this hypothesis in myeloid leukemias. This review covers: (1) the hedgehog pathway and its role in normal and malignant hematopoiesis, (2) the recent development of clinical grade small molecule inhibitors of the pathway, and (3) the potential utility of hedgehog pathway inhibition as a therapeutic strategy in hemato-oncology. PMID:22223823

  18. Immunotherapy of malignant brain tumors

    PubMed Central

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

    2012-01-01

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

  19. [Epigenetic therapy for hematologic malignancies].

    PubMed

    Kobayashi, Yukio

    2015-10-01

    Cumulative evidence suggests that at least some hematologic malignancies are derived from alterations of epigenetic machinery. Next generation sequencing has revealed recurrent mutations of genes related to DNA methylation and histone modification in myelodysplastic syndromes (MDS), acute myeloid leukemia, malignant lymphoma, and multiple myeloma. Both these pathways are targetable and specific inhibitors of their related proteins are currently in development. Among these novel therapies, hypomethylating agents have been approved for MDS, and recently, histone deacetylase inhibitors became available for T-cell lymphoma and multiple myeloma. Agents currently undergoing clinical trials include inhibitors of IDH2 targeting DNA methylation, and EZH2, Dot1L, and BRD4 inhibitors designed to target either writers or readers of post-translational modifications (PTMs) of histones. In a phase I setting, where the maximum tolerated dose has not been reached, efficacy was reported with these agents. Furthermore, Dot1bL and IDH2 inhibitors have been shown to induce differentiation of leukemic blasts in patients with MLL gene rearrangements and IDH2 mutations, respectively, thus providing functional evidence supporting the use of inhibitors of epigenetic mechanisms as a means of differentiation therapy for hematologic malignancies. PMID:26458440

  20. Temozolomide for Treating Malignant Melanoma.

    PubMed

    Li, Rong-Hua; Hou, Xiao-Yang; Yang, Chun-Sheng; Liu, Wen-Lou; Tang, Jian-Qin; Liu, Yan-Qun; Jiang, Guan

    2015-09-01

    Melanoma is one of the most malignant forms of skin cancer; with a rapidly increasing prevalence. Early-stage melanoma is curable, but advanced metastatic melanoma is almost always fatal, and patients with such advanced disease have short median survival. Surgery and radiotherapy play a limited role in the treatment of metastatic melanoma. Rather, chemotherapy remains the mainstay of treatment, although other approaches, including biotherapy and gene therapy, have been attempted. The authors hereby, evaluated the use of temozolomide (TMZ) for treating metastatic melanoma compared to dacarbazine (DTIC), the effectiveness of TMZ for treating brain metastases, as well as TMZ resistance and how the efficacy of TMZ in malignant melanoma can be increased. Two chemotherapeutic regimens are commonly used for palliative treatment of malignant melanoma: intravenous administration of DTIC and oral administration of the alkylating agent temozolomide (TMZ). Compared to DTIC, TMZ is very well tolerated and has an advantage in terms of improving the quality of life of patients with metastatic melanoma. While the prognosis is currently unpromising, chemotherapy plays a palliative role for patients with metastatic melanoma. The toxicity of treatment regimens based on DTIC and TMZ do not differ significantly, although TMZ is costlier. These findings provide a reference for future researchers via a comprehensive analysis of the relevant literature. PMID:26374366

  1. Comparative effectiveness in hepatic malignancies.

    PubMed

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

    2015-01-01

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

  2. Immunotherapy of malignant brain tumors.

    PubMed

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

    2008-04-01

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

  3. Giant Malignant Pheochromocytoma with Palpable Rib Metastases

    PubMed Central

    Gokce, Gokhan; Kilicli, Fatih; Elagoz, Sahande; Ayan, Semih; Gultekin, Emin Yener

    2014-01-01

    Pheochromocytoma is a rare and usually benign neuroendocrine neoplasm. Only 10% of all these tumors are malignant and there are no definitive histological or cytological criteria of malignancy. Single malignancy criteria are the presence of advanced locoregional disease or metastases. We report a case, with a giant retroperitoneal tumor having multiple metastases including palpable rib metastases, who was diagnosed as a malignant pheochromocytoma. The patient was treated with surgery. The literature was reviewed to evaluate tumor features and current diagnostic and therapeutic approaches for patients with metastatic or potentially malignant pheochromocytoma. PMID:25152826

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

    PubMed

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

    2014-01-01

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

  5. Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia

    PubMed Central

    Rockman-Greenberg, Cheryl; Ozono, Keiichi; Riese, Richard; Moseley, Scott; Melian, Agustin; Thompson, David D.; Bishop, Nicholas; Hofmann, Christine

    2016-01-01

    Context: Hypophosphatasia (HPP) is an inborn error of metabolism that, in its most severe perinatal and infantile forms, results in 50–100% mortality, typically from respiratory complications. Objectives: Our objective was to better understand the effect of treatment with asfotase alfa, a first-in-class enzyme replacement therapy, on mortality in neonates and infants with severe HPP. Design/Setting: Data from patients with the perinatal and infantile forms of HPP in two ongoing, multicenter, multinational, open-label, phase 2 interventional studies of asfotase alfa treatment were compared with data from similar patients from a retrospective natural history study. Patients: Thirty-seven treated patients (median treatment duration, 2.7 years) and 48 historical controls of similar chronological age and HPP characteristics. Interventions: Treated patients received asfotase alfa as sc injections either 1 mg/kg six times per week or 2 mg/kg thrice weekly. Main Outcome Measures: Survival, skeletal health quantified radiographically on treatment, and ventilatory status were the main outcome measures for this study. Results: Asfotase alfa was associated with improved survival in treated patients vs historical controls: 95% vs 42% at age 1 year and 84% vs 27% at age 5 years, respectively (P < .0001, Kaplan-Meier log-rank test). Whereas 5% (1/20) of the historical controls who required ventilatory assistance survived, 76% (16/21) of the ventilated and treated patients survived, among whom 75% (12/16) were weaned from ventilatory support. This better respiratory outcome accompanied radiographic improvements in skeletal mineralization and health. Conclusions: Asfotase alfa mineralizes the HPP skeleton, including the ribs, and improves respiratory function and survival in life-threatening perinatal and infantile HPP. PMID:26529632

  6. Surgical Treatments for Infantile Purulent Meningitis Complicated by Subdural Effusion

    PubMed Central

    Wang, Xianshu; Zhang, Xiaoru; Cao, Hongbin; Jing, Shiyuan; Yang, Zhiguo; Cheng, Zhenghai; Liu, Ye; Li, Xin; Gao, Feifei; Ji, Yuanqi

    2015-01-01

    Background Infantile purulent meningitis (PM) is a commonly severe intracranial infectious disease in infants under age 1 year. In recent years, several diagnostic and treatment methods were reported, but in these cases the neurological complications and sequel were often observed, among which subdural effusion (SE) is the most common complication in PM. Timely diagnosis and early intervention are vital for better outcomes. In this study, the surgical treatments for infantile PM complicated by SE were investigated. Material/Methods Patients who had PM complicated by SE in the Children’s Hospital of Hebei Province from June 2000 to June 2012 were retrospectively analyzed and 170 patients were enrolled in the study. Surgical treatment for each patient was adopted according to producing effusion time, leucocyte count, protein content, intracranial pressure, and bacteria culture, coupled with cranial ultrasound examination, CT, and MRI scans. Results Nearly, 15 patients were cured using serial taps, with a 50% cure rate. Seventeen out of 30 (56.6%) patients receiving subcutaneous reservoir drainage had better outcome. Nearly 80% of patients (55/69) who underwent minimally invasive trepanation and drainage were positive. Surgical procedure of minimally invasive trepanation and drainage combined with drug douche was effective in 63% of patients (19/30). In addition, 6 patients were cured with subdural-peritoneal shunt. Only 1 patient died, after the recurrence of meningitis, and the remaining 4 patients were cured by craniotomy. Conclusions For infantile PM complicated with SE, treatment needs be chosen according to the specific situation. Surgical procedure of minimally invasive trepanation and drainage is a very effective treatment in curing PM complicated by SE. The treatment was highly effective with the use of drug douche. Subdural-peritoneal shunt and craniotomy were as effective as in refractory cases. PMID:26482715

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

    PubMed Central

    Tully, Hannah M; Dobyns, William B

    2015-01-01

    Hydrocephalus is a common but complex condition caused by physical or functional obstruction of CSF flow that leads to progressive ventricular dilatation. Though hydrocephalus was recently estimated to affect 1.1 in 1,000 infants, there have been few systematic assessments of the causes of hydrocephalus in this age group, which makes it a challenging condition to approach as a scientist or as a clinician. Here, we review contemporary literature on the epidemiology, classification and pathogenesis of infantile hydrocephalus. We describe the major environmental and genetic causes of hydrocephalus, with the goal of providing a framework to assess infants with hydrocephalus and guide future research. PMID:24932902

  8. Clinical Characteristics and Treatment Options of Infantile Vascular Anomalies

    PubMed Central

    Yang, Bin; Li, Li; Zhang, Li-xin; Sun, Yu-juan; Ma, Lin

    2015-01-01

    Abstract To analyze the clinical characteristics and treatment outcomes of vascular anomalies, and determine which therapy is safe and effective. The data of vascular anomalies pediatric patients who arrived at Beijing children's Hospital from January 2001 to December 2014 were analyzed retrospectively, including the influence of gender, age, clinical manifestation, diagnosis, treatment options, and outcomes. As to infantile hemangiomas, the outcomes of different treatments and their adverse reactions were compared. As to spider angioma and cutaneous capillary malformation, the treatment effect of 595 nm pulsed dye laser (PDL) is analyzed. A total number of 6459 cases of vascular anomalies were reclassified according to the 2014 ISSVA classification system. Among them, the gender ratio is 1:1.69, head-and-neck involved is 53.3%, the onset age within the first month is 72.4%, the age of initial encounter that younger than 6 months is 60.1%. The most common anomalies were infantile hemangiomas (42.6%), congenital hemangiomas (14.1%), and capillary malformations (29.9%). In treating infantile hemangiomas, laser shows the lowest adverse reactions rate significantly. Propranolol shows a higher improvement rate than laser, glucocorticoids, glucocorticoids plus laser, and shows no significant difference with propranolol plus laser both in improvement rate and adverse reactions rate. The total improvement rate of 595 nm PDL is 89.8% in treating spider angioma and 46.7% in treating cutaneous capillary malformation. The improvement rate and excellent rate of laser in treating cutaneous capillary malformation are growing synchronously by increasing the treatment times, and shows no significant difference among different parts of lesion that located in a body. Vascular anomalies possess a female predominance, and are mostly occurred in faces. Definite diagnosis is very important before treatment. In treating infantile hemangioma, propranolol is recommended as the first-line agent, and systemic use glucocorticoids should be considered when associated with serious complications. The 595 nm PDL is effective in managing superficial vascular malformations in childhood, and could attempt to increase the treatment times to improve the outcomes. PMID:26448027

  9. Malignancy in Solitary Thyroid Nodule.

    PubMed

    Majumder, K R; Karmakar, R; Karim, S S; Al-Mamun, A

    2016-01-01

    This prospective study was done to find out the relative frequency of the malignancy in cold solitary thyroid nodules with other solitary thyroid nodules (hot and warm). This study was carried out in the Department of General Surgery and Otolaryngology - Head & Neck Surgery, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh from January 2011 to February 2012. One hundred (100) patients with clinically and ultrasonographically diagnosed as solitary thyroid nodules were included. Out of them, 52% of patients were in the third and fourth decades of life and 26% were in the second decade of life. In sex distribution, females were more affected than males and female: male ratio was 2.1:1. All patients presented with neck swelling, which moved with deglutition and 18% presented with palpitation. Solitary nodule was present in about 60% in the right lobe and 32% in the left lobe. In 72% patients, radioiodine uptake was low; in 25% patient's radioiodine uptake was normal. The thyroid scan revealed 72% cold nodule, in 25% patients radioiodine uptake was normal. On Ultrasonographic study, 60% were solid, 28% cystic and others mixed. Each and every patient of this series was treated surgically. Mostly (73%) lobectomy was done. Total thyroidectomy was done in 16% cases. On histopathology, 56% were colloid nodule, 28% were adenoma and 16% were carcinoma. Among the 16% malignant patients, majority of the patients had their age between 21-48 years. Histopathological types were mostly papillary (50%). Complications of surgery were mostly hoarseness of voice (5%), hematoma (4%), infection (2%) and hypoparathyroidism (3%). In this study, more malignant cases (20.83%) were found in cold solitary nodules. PMID:26931247

  10. Malignant Tumours Following Immunosuppressive Therapy

    PubMed Central

    Pritzker, K. P. H.; Huang, S. N.; Marshall, K. G.

    1970-01-01

    Two cases of malignant disease occurring during immunosuppressive therapy, one a leiomyosarcoma of bowel metastatic to the liver, the other, carcinoma in situ of the cervix uteri, are reported. The possible roles of immunosuppression and immunosuppressive therapy in the pathogenesis of these neoplasms are discussed. It is suggested that the incidence of neoplasms in immunologically suppressed patients is greatly increased and that further investigation into the relation of immunosuppression to cancer is urgently needed. ImagesFIG. 1FIG. 2FIG. 3FIG. 4 PMID:4923839

  11. Managing toxicities in pelvic malignancies.

    PubMed

    Friedland, Jay

    2004-01-01

    Pelvic malignancies, including bladder, prostate, and gynecologic cancers, are typically treated with some form of radiation therapy. Reducing radiation-related toxicities in these patients is important for maintaining good quality of life as survival rates increase and also for directly affecting cure rates by reducing delays in radiotherapy. Amifostine (Ethyol) has been shown to reduce rectal bleeding in patients with prostate cancer treated with radiation therapy, prevent radiation-related dermatitis, and provide widespread mucosal protection without adversely affecting local or distant tumor control. PMID:15605921

  12. The malignant lymphomas in Africa.

    PubMed

    Jacobs, P

    1991-10-01

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

  13. Infantile spasms: a U.S. consensus report.

    PubMed

    Pellock, John M; Hrachovy, Richard; Shinnar, Shlomo; Baram, Tallie Z; Bettis, David; Dlugos, Dennis J; Gaillard, William D; Gibson, Patricia A; Holmes, Gregory L; Nordl, Douglas R; O'Dell, Christine; Shields, W Donald; Trevathan, Edwin; Wheless, James W

    2010-10-01

    The diagnosis, evaluation, and management of infantile spasms (IS) continue to pose significant challenges to the treating physician. Although an evidence-based practice guideline with full literature review was published in 2004, diversity in IS evaluation and treatment remains and highlights the need for further consensus to optimize outcomes in IS. For this purpose, a working group committed to the diagnosis, treatment, and establishment of a continuum of care for patients with IS and their families—the Infantile Spasms Working Group (ISWG)—was convened. The ISWG participated in a workshop for which the key objectives were to review the state of our understanding of IS, assess the scientific evidence regarding efficacy of currently available therapeutic options, and arrive at a consensus on protocols for diagnostic workup and management of IS that can serve as a guide to help specialists and general pediatricians optimally manage infants with IS. The overall goal of the workshop was to improve IS outcomes by assisting treating physicians with early recognition and diagnosis of IS, initiation of short duration therapy with a first-line treatment, timely electroencephalography (EEG) evaluation of treatment to evaluate effectiveness, and, if indicated, prompt treatment modification. Differences of opinion among ISWG members occurred in areas where data were lacking; however, this article represents a consensus of the U.S. approach to the diagnostic evaluation and treatment of IS. PMID:20608959

  14. Quality-of-care indicators for infantile spasms.

    PubMed

    Wang, C Jason; Jonas, Rinat; Fu, Chong Min; Ng, Chun Y; Douglass, Laurie

    2013-01-01

    We developed a comprehensive set of quality-of-care indicators for the management of children with infantile spasms in the United States, encompassing evaluation, diagnosis, treatment, and prevention and management of side effects and comorbidities. The indicators were developed using the RAND/UCLA Modified Delphi Method. After a focused review of the literature and guidelines by the study team, an expert panel (nominated by leaders of Child Neurology Society, American Epilepsy Society, and National Institute for Neurologic Disorders) rated the draft indicators anonymously, met face-to-face to discuss each indicator, and rerated the revised indicators on validity, feasibility, and importance. The panel recommended 21 indicators, of which 8 were identified as most likely to have a large positive impact on improving quality of life and/or health outcomes for children with infantile spasms. The proposed indicators can be used to assess and document variations and gaps in quality-of-care and inform future research and quality improvement interventions. PMID:22566712

  15. Cerebral blood flow abnormalities in adults with infantile autism.

    PubMed

    George, M S; Costa, D C; Kouris, K; Ring, H A; Ell, P J

    1992-07-01

    Structural brain abnormalities have recently been discovered using magnetic resonance imaging in infantile autism, a neurodevelopmental disorder of unknown etiology. However, functional neuroimaging studies in autism using positron emission tomography have had conflicting results and have not explained how the known structural brain abnormalities in autism act in a functioning brain to produce autistic behavior. Using a new technology, high-resolution brain single photon emission tomography, we studied and scanned four young adults with infantile autism and four age-matched controls using the labeled ligand 99mTc-D,L-hexamethyl-propylene amine oxime (99mTc-HMPAO). Total brain perfusion was significantly decreased in autism subjects (range, 58% to 72% of controls, p less than or equal to .02). In addition to the globally decreased perfusion, the autism group also had regionally decreased flow in the right lateral temporal and right, left, and midfrontal lobes compared with controls (p less than or equal to .02, Mann-Whitney t-test). PMID:1624921

  16. PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

    PubMed Central

    Scheffer, Ingrid E.; Grinton, Bronwyn E.; Heron, Sarah E.; Kivity, Sara; Afawi, Zaid; Iona, Xenia; Goldberg-Stern, Hadassa; Kinali, Maria; Andrews, Ian; Guerrini, Renzo; Marini, Carla; Sadleir, Lynette G.; Dibbens, Leanne M.

    2012-01-01

    ABSTRACT Objective: Benign familial infantile epilepsy (BFIE) is an autosomal dominant epilepsy syndrome characterized by afebrile seizures beginning at about 6 months of age. Mutations in PRRT2, encoding the proline-rich transmembrane protein 2 gene, have recently been identified in the majority of families with BFIE and the associated syndrome of infantile convulsions and choreoathetosis (ICCA). We asked whether the phenotypic spectrum of PRRT2 was broader than initially recognized by studying patients with sporadic benign infantile seizures and non-BFIE familial infantile seizures for PRRT2 mutations. Methods: Forty-four probands with infantile-onset seizures, infantile convulsions with mild gastroenteritis, and benign neonatal seizures underwent detailed phenotyping and PRRT2 sequencing. The familial segregation of mutations identified in probands was studied. Results: The PRRT2 mutation c.649-650insC (p.R217fsX224) was identified in 11 probands. Nine probands had a family history of BFIE or ICCA. Two probands had no family history of infantile seizures or paroxysmal kinesigenic dyskinesia and had de novo PRRT2 mutations. Febrile seizures with or without afebrile seizures were observed in 2 families with PRRT2 mutations. Conclusions: PRRT2 mutations are present in >80% of BFIE and >90% ICCA families, but are not a common cause of other forms of infantile epilepsy. De novo mutations of PRRT2 can cause sporadic benign infantile seizures. Seizures with fever may occur in BFIE such that it may be difficult to distinguish BFIE from febrile seizures and febrile seizures plus in small families. PMID:23077018

  17. Malignant chondroid syringoma of the pinna.

    PubMed

    Krishnamurthy, Arvind; Aggarwal, Niharika; Deen, Suhail; Majhi, Urmila; Ramshankar, Vijayalakshmi

    2015-01-01

    Chondroid syringoma (CS) represents the cutaneous counterpart of mixed tumor (pleomorphic adenoma) of salivary glands. The malignant counterpart of CS, termed as "malignant CS" is a malignant eccrine neoplasm which lacks distinctive clinical features, often delaying initial diagnosis. Unlike its benign counterpart which often localizes in the head and neck region, malignant CS most often encountered in the trunk and the extremities. We report a rare case of an aggressive malignant CS of the left pinna with cervical lymph node metastasis. Our patient, to the best of our knowledge, possibly is the first case of malignant CS of the pinna and the fourth to arise in the head and neck region. The diagnostic challenges with an added emphasis on the role of positron emission tomography-computed tomography in aiding the management of this rare tumor are discussed. PMID:26430319

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

    PubMed

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

    1976-08-01

    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

  19. Sonographic features of congenital infantile fibrosarcoma that appeared as a sacrococcygeal teratoma during pregnancy.

    PubMed

    Suzuki, Takashi; Murakoshi, Takeshi; Tanaka, Kei; Ogasawara, Aiko; Torii, Yuichi

    2015-08-01

    We experienced an extremely rare case of congenital infantile fibrosarcoma originating from the fetal sacrococcygeal region in pregnancy. At first, we suspected fetal sacrococcygeal teratoma; however, the following ultrasonography findings of the tumor complicated this diagnosis: (i) laterality; (ii) no cystic component; (iii) hypervascularity, with the feeding vessels not derived from the middle sacral artery; and (iv) a skin covering. The pathological findings indicated that the tumor was an infantile fibrosarcoma, not a teratoma. Thus, we believe that these sonographic features may aid the prenatal diagnosis of congenital infantile fibrosarcoma, which, in turn, may contribute to a better prognosis and may be useful for parental counseling. PMID:26013636

  20. Imaging probe for tumor malignancy

    NASA Astrophysics Data System (ADS)

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

    2009-02-01

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

  1. Radioguided surgery in urological malignancies

    PubMed Central

    Weckermann, Dorothea; Thalgott, Mark; Holl, Gabriele; Wagner, Theodor; Harzmann, Rolf

    2008-01-01

    The current literature was reviewed for articles focusing on radioguided surgery in urological malignancies. In penile cancer sentinel lymph node dissection is part of international guidelines. By detailed histopathological analysis (serial sections, immunohistochemical staining) more micrometastases are detectable improving the histopathological staging. In prostate cancer this technique also improves staging since a high percentage of patients have lymph node metastases located outside the region of standard lymphadenectomy. Compared to extended lymph node dissection radioguided surgery has a lower morbidity, especially a lower rate of lymphoceles. In bladder cancer the sentinel lymph node (SLN) technique has some limitations. Combined with extended lymph node dissection more positive lymph nodes are removed which possibly improves survival. In renal cell and testicular cancer there are only preliminary results. Further investigations will show whether this technique will play an important role in the diagnostics and therapy of these tumors. In all urological malignancies the SLN concept is only a staging procedure. When the sentinel node(s) is (are) negative, the other lymph nodes are negative, too. Since there are no randomized prospective trials comparing the results of sentinel lymphadenectomy with other techniques of lymph node dissection, it is not clear whether sentinel lymph node dissection also has a prognostic impact. PMID:19468350

  2. Leuloplakia - Review of A Potentially Malignant Disorder

    PubMed Central

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

    2014-01-01

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

  3. PAL-test for malignant disease.

    PubMed

    Bauer, H W; Ax, W

    1978-08-24

    Peripheral blood lymphocytes from a total of 300 subjects including normal controls and patients with malignant and non-malignant disorders were investigated to determine their ability to agglutinate with Poly-l-lysine 3400 (PAL-test). A high level of association between clinically evident cancer and a positive reaction was confirmed. Lymphocytes from 72 of 90 patients with malignant diseases as well as 33 of 140 patients with non-malignant processes showed positive reactions. All healthy controls were negative. The positive evidence of the PAL-test amounted to over 80%. The results and possible mechanisms of the PAL-test are discussed. PMID:151403

  4. Rationale for Proton Therapy in Pediatric Malignancies

    NASA Astrophysics Data System (ADS)

    Woo, Shiao Y.

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

  5. Indwelling pleural catheters for malignant pleural effusion.

    PubMed

    McPhillips, Dympna; Breen, David

    2015-06-01

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

  6. B-Cell Hematologic Malignancy Vaccination Registry

    ClinicalTrials.gov

    2015-09-15

    Monoclonal Gammopathy of Undetermined Significance; Multiple Myeloma; Waldenstrom Macroglobulinemia; Lymphocytosis; Lymphoma, Non-Hodgkin; B-Cell Chronic Lymphocytic Leukemia; Hematological Malignancies

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

    PubMed Central

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

    1996-01-01

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

  8. Development of bile duct cancer in a 26-year-old man after resection of infantile choledochal cyst.

    PubMed

    Ono, Shigeru; Sakai, Kohei; Kimura, Osamu; Iwai, Naomi

    2008-06-01

    Anomalous arrangement of the pancreaticobiliary duct is considered to be a high-risk factor for biliary tract malignancy. We report a case of intrahepatic cholangiocarcinoma in a 26-year-old man after total resection of choledochal cyst with anomalous arrangement of the pancreaticobiliary duct at the age of 5 months. He had been doing well after total resection of the choledochal cyst; however, he suddenly presented with a spiky fever and abdominal pain in the right upper quadrant at the age of 26 years. Computed tomographic scan and percutaneous transhepatic cholangioscope revealed multiple stones and stenosis of the hepatic duct and the left intrahepatic bile duct. Histologic examination of a biopsy specimen obtained from the stenotic site showed adenocarcinoma of the intrahepatic bile duct. Left lobectomy with re-reconstruction by right hepaticojejunostomy was performed, and his postoperative course was uneventful. One year after the operation, however, he died of carcinomatous peritonitis with recurrence of cholangiocarcinoma. This report warns us that bile stasis owing to stenosis of the intrahepatic bile duct and repeated cholangitis with multiple stones are high-risk factors for carcinogenesis of the intrahepatic bile duct even after total resection of the infantile choledochal cyst. PMID:18558159

  9. Irreversible Electroporation of Hepatic Malignancy

    PubMed Central

    Narayanan, Govindarajan; Froud, Tatiana; Suthar, Rekhaben; Barbery, Katuska

    2013-01-01

    Hepatocellular carcinoma (HCC) is a worldwide problem of epidemic proportions, best treated in a multidisciplinary setting. Major advances have been made in all specialties that manage patients with HCC, with surgical options at one end of the spectrum and palliative chemotherapy on the other, and the vast majority of patients require the involvement and expertise of interventional oncology. Several ablative and transarterial technologies are currently available. Irreversible electroporation (IRE) is a new ablative technology that uses high-voltage, low-energy DC current to create nanopores in the cell membrane, disrupting the homeostasis mechanism and inducing cell death by initiating apoptosis. This article discusses the evolution of IRE as well as its safety and efficacy in the context of other ablative therapies in the treatment of hepatic malignancies. PMID:24436519

  10. Malignant hyperthermia: a pharmacogenetic disorder.

    PubMed

    Stowell, Kathryn M

    2008-11-01

    Malignant hyperthermia (MH) is a pharmacogenetic disorder triggered by volatile anesthetics or depolarizing muscle relaxants in predisposed individuals. Exercise or stress-induced MH episodes, in the absence of any obvious pharmacological trigger, have been reported, but these are rare. A considerable effort has taken place over the last two decades to identify mutations associated with MH and characterize their functional effects. A number of different, but complementary systems, have been developed and implemented to this end. The results of such studies have identified commonalities in functional affects of mutations, and also uncovered unexpected complexities in both the structure and function of the skeletal muscle calcium-release channel. The following review is an attempt to provide a summary of the background to current MH research, and highlight some recent advances in our knowledge of the molecular basis of the phenotypic expression of this disorder. PMID:19018722

  11. Malignant Mesothelioma: Development to Therapy

    PubMed Central

    Thompson, Joyce; Westbom, Catherine; Shukla, Arti

    2013-01-01

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

  12. Vaccine Therapies in Malignant Glioma

    PubMed Central

    Oh, Taemin; Sayegh, Eli T.; Fakurnejad, Shayan; Oyon, Daniel; Lamano, Jonathan Balquiedra; DiDomenico, Joseph David; Bloch, Orin; Parsa, Andrew T.

    2015-01-01

    Glioblastoma is a grade IV astrocytoma that is widely accepted in clinical neurosurgery as being an extremely lethal diagnosis. Long-term survival rates remain dismal and, even when tumors undergo gross resection with confirmation of total removal on neuroimaging, they invariably recur with even greater virulence. Standard therapeutic modalities as well as more contemporary treatments have largely resulted in disappointing improvements. However, the therapeutic potential of vaccine immunotherapy for malignant glioma should not be underestimated. In contrast to many of the available treatments, vaccine immunotherapy is unique because it offers the means of delivering treatment that is highly specific to both the patient and the tumor. Peptide, heat-shock proteins, and dendritic cell vaccines collectively encapsulate the majority of research efforts involving vaccine-based treatment modalities. In this review, important recent findings for these vaccine types are discussed in the context of ongoing clinical trials. Broad challenges to immunotherapy are also considered. PMID:25431096

  13. [Malignant hyperthermia syndrome: case report].

    PubMed

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

    2015-04-01

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

  14. Clinical Management of Malignant Glaucoma

    PubMed Central

    Foreman-Larkin, Julie; Netland, Peter A.; Salim, Sarwat

    2015-01-01

    Malignant glaucoma remains one of the most challenging complications of ocular surgery. Although it has been reported to occur spontaneously or after any ophthalmic procedure, it is most commonly encountered after glaucoma surgery in eyes with prior chronic angle closure. The clinical diagnosis is made in the setting of a patent peripheral iridotomy and axial flattening of the anterior chamber. Intraocular pressure is usually elevated, but it may be normal in some cases. Although the exact etiology of this condition is not fully understood, several mechanisms have been proposed and it is thought to result from posterior misdirection of aqueous humor into or behind the vitreous. This review discusses pathophysiology, differential diagnosis, imaging modalities, and current treatment strategies for this rare form of secondary glaucoma. PMID:26819754

  15. Topiramate and Adrenal Cortico-tropic Hormone as Initial Treatment of Infantile Spasms

    PubMed Central

    Peltzer, Bradley; Alonso, William D.; Porter, Brenda E.

    2009-01-01

    Historically, adrenal cortico-tropic hormone (ACTH) was used as first line treatment for infantile spasms, however there has been increasing use of topiramate as initial therapy. Here we report a retrospective study of ACTH and topiramate as initial treatment of infantile spasms. The neurology patient database at the Children's Hospital of Philadelphia was searched using the ICD-9 code for infantile spasms, and 50 patients were randomly chosen for chart review. We identified thirty-one patients receiving either ACTH or topiramate monotherapy (ACTH, n = 12, topiramate n = 19) as a first line treatment for infantile spasms. Twenty-six patients were symptomatic and five cryptogenic. Six patients treated with ACTH had resolution of clinical spasms and hypsarrhithmia within a month, but three relapsed. Four of the nineteen patients treated with topiramate eventually, though over a period of 0,1,8 or 69 months, had resolution of spasms and hypsarrhythmia. PMID:19225138

  16. Vigabatrin and mental retardation in tuberous sclerosis: infantile spasms vs focal seizures

    PubMed Central

    Yum, Mi-Sun; Lee, Eun Hye; Ko, Tae-Sung

    2013-01-01

    Tuberous sclerosis complex is a genetic disorder resulting in epilepsy and mental retardation. Vigabatrin has shown efficacy in the treatment of infantile spasms caused by tuberous sclerosis complex, but its effects on focal seizures caused by tuberous sclerosis complex have not been determined. We compared the efficacy of vigabatrin in patients with tuberous sclerosis complex-induced focal seizures and infantile spasms and assessed the mental outcomes in both groups. We retrospectively evaluated 31 children with tuberous sclerosis complex and epilepsy, who were treated with vigabatrin in single tertiary center in Seoul, Korea. Vigabatrin treatment resulted in spasms cessation in 16 of 18 (88.9%) patients with infantile spasms, whereas 6 of 13 (46.2%) patients with focal seizures became seizure-free. Initial response to vigabatrin had no effect on intellectual disability. Vigabatrin was highly effective in eliminating infantile spasms caused by tuberous sclerosis complex, but was less effective in patients with focal seizures. PMID:22752486

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

    PubMed

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

    2015-04-01

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

  18. Vigabatrin and mental retardation in tuberous sclerosis: infantile spasms versus focal seizures.

    PubMed

    Yum, Mi-Sun; Lee, Eun Hye; Ko, Tae-Sung

    2013-03-01

    Tuberous sclerosis complex is a genetic disorder resulting in epilepsy and mental retardation. Vigabatrin has shown efficacy in the treatment of infantile spasms caused by tuberous sclerosis complex, but its effects on focal seizures caused by tuberous sclerosis complex have not been determined. We compared the efficacy of vigabatrin in patients with tuberous sclerosis complex-induced focal seizures and infantile spasms and assessed the mental outcomes in both groups. We retrospectively evaluated 31 children with tuberous sclerosis complex and epilepsy, who were treated with vigabatrin in a single tertiary center in Seoul, Korea. Vigabatrin treatment resulted in spasms cessation in 16 of 18 (88.9%) patients with infantile spasms, whereas 6 of 13 (46.2%) patients with focal seizures became seizure free. Initial response to vigabatrin had no effect on intellectual disability. Vigabatrin was highly effective in eliminating infantile spasms caused by tuberous sclerosis complex but was less effective in patients with focal seizures. PMID:22752486

  19. Ghost infantile vertebrae and hemipelves within adult skeleton from thorotrast administration in childhood.

    PubMed

    Teplick, J G; Head, G L; Kricun, M E; Haskin, M E

    1978-12-01

    In 2 adults who had received thorotrast intravenously at ages 2 and 3 years, respectively, radiopaque outlines of their infantile vertebrae were seen in the adult vertebrae. Similar "ghosts" of the hemipelves were present in the pelvis of 1 patient. Autopsy findings and autoradiographs in 1 patient strongly suggest that persisting thorotrast deposits in the infantile vertebrae and pelvis have produced a chronic radiation osteitis and dense thickened bone trabeculae, which are more radiopaque than the surrounding adult bone. PMID:725040

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

    PubMed

    Salman, Michael S

    2015-05-01

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

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

    PubMed

    Datta, Kalpana; Datta, Supratim; Dutta, Indranil

    2012-01-01

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

  2. Idiopathic infantile hypercalcemia: case report and review of the literature.

    PubMed

    Marks, Brynn E; Doyle, Daniel A

    2016-02-01

    The widespread use of supplemental vitamin D has dramatically reduced the incidence of rickets. While generally considered a safe practice, there is potential for toxicity in patients with idiopathic infantile hypercalcemia (IIH). Inadequate 24-hydroxylase-enzyme activity renders these individuals unable to degrade active vitamin D, resulting in hypercalcemia due to increased intestinal calcium absorption, decreased renal calcium excretion, and increased osteoclastic bone activity. Clinicians should be aware that even therapeutic doses of vitamin D can prove harmful for patients with CYP24A1 mutations. Studies have also demonstrated a link between inadequate 24-hydroxylase activity and nephrocalcinosis, renal insufficiency, and calcium containing kidney stones, further emphasizing the importance of early recognition of this disease and judicious use of vitamin D. We present a case with an interesting diagnostic algorithm used to diagnose IIH when given an incomplete history and subsequently review the existing literature on the subject. PMID:26501157

  3. Beta-Blockers as Therapy for Infantile Hemangiomas

    PubMed Central

    Nguyen, Harrison P.; Pickrell, Brent B.; Wright, Teresa S.

    2014-01-01

    Infantile hemangiomas (IH) are common benign vascular tumors seen in children. Although the majority will improve spontaneously without treatment, a small subset will require therapy due to a variety of complications. Less than a decade ago, propranolol replaced corticosteroids as first-line treatment for most IH and it has proven to be a relatively safe, effective therapy. After initiation of propranolol, most hemangiomas show evidence of significant improvement relatively rapidly, often within days. Although propranolol is generally felt to have a more limited side-effect profile than systemic corticosteroids, its use has been infrequently associated with adverse events, including sleep disturbances, acrocyanosis, hypotension, bradycardia, respiratory events, and hypoglycemia. Rarely, hypoglycemic seizures have been reported, usually occurring in the setting of prolonged fasting. PMID:25045334

  4. Model of cryptogenic infantile spasms after prenatal corticosteroid priming

    PubMed Central

    Velíšek, Libor; Chachua, Tamar; Yum, Mi-Sun; Poon, Ka-Lai; Velíšková, Jana

    2010-01-01

    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

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

    PubMed

    Figueroa, Gustavo C

    2014-01-01

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

  6. Bovine milk immunoglobulins for passive immunity to infantile rotavirus gastroenteritis.

    PubMed Central

    Brüssow, H; Hilpert, H; Walther, I; Sidoti, J; Mietens, C; Bachmann, P

    1987-01-01

    Pregnant cows were successfully hyperimmunized with all four human rotavirus serotypes, resulting in a 100-fold increase in neutralizing milk antibody titers over those of controls. Milk antibodies were isolated batchwise from 1,000 kg of pooled milk for the first 10 lactation days, yielding 10 kg of freeze-dried milk immunoglobulin concentrate consisting of 50% bovine milk immunoglobulins. Milk immunoglobulin concentrate showed neutralizing activities against all four human rotavirus serotypes that were 100 times higher than those in pooled human milk samples and 10 times higher than those in a commercial pooled immunoglobulin preparation from pooled human blood serum. In vitro neutralization tests showed that milk immunoglobulin concentrate had powerful antiviral activity, even against very high doses of infectious rotaviruses. Because the technology of the milk immunoglobulin concentrate ensures that it is innocuous and can be used for oral application, it is proposed that milk immunoglobulin concentrate be used to induce passive immunity to infantile rotavirus gastroenteritis. PMID:3036910

  7. Rare Malignant Tumors of the Breast

    PubMed Central

    Miller, Trevor; Albarracin, Constance; Carkaci, Selin; Whitman, Gary J; Adrada, Beatriz E

    2015-01-01

    While the more common forms of breast cancer are well understood and recognized, there are many important rare malignancies that are less appreciated. Many of these cancers have imaging findings that, when understood, help to formulate a more educated differential diagnosis. In this article, the clinical features, imaging, and pathologic findings of rare breast malignancies will be discussed. PMID:26664775

  8. Malignant mesothelioma of tunica vaginalis testis

    SciTech Connect

    Tyagi, G.; Munn, C.S.; Kiser, L.C.; Wetzner, S.M.; Tarabulcy, E. )

    1989-08-01

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

  9. Malignant gonadal tumour formation in intersexual states

    PubMed Central

    Pigott, H. W. S.

    1975-01-01

    Two cases of malignant tumour are reported in phenotypically male hermaphrodites. The importance of establishing the presence of persistent Müllerian duct structures in pseudo-hermaphrodites is discussed in relation to prophylactic castration in anticipation of malignant change. ImagesFig. 1Fig. 2 PMID:1197157

  10. Placental transfer of and infantile exposure to perchlorate.

    PubMed

    Zhang, Tao; Ma, Yufang; Wang, Dou; Li, Rudan; Chen, Xiaojia; Mo, Weiwen; Qin, Xiaolei; Sun, Hongwen; Kannan, Kurunthachalam

    2016-02-01

    Fetuses and infants are vulnerable to perchlorate toxicity. We assessed fetal and infantile exposure to perchlorate in two Chinese cities (Nanchang and Tianjin). Perchlorate was widely found (82%-100%) in breast milk, dissolved infant formula, infants' urine, maternal and cord blood samples. Perchlorate levels in infants' urine (mean ± standard deviation: 22.4 ± 35.6 ng mL(-1)), breast milk (36.6 ± 48.1 ng mL(-1)), and cord blood (3.18 ± 3.83 ng mL(-1)) samples collected from Nanchang and Tianjin were approximately an order of magnitude higher than those reported for the U.S. Perchlorate concentrations in cord blood were comparable to that in maternal blood, indicating that perchlorate is transferred from mother to fetus through placenta. Among all infants providing urine samples, the average daily intake of perchlorate (DOSEU) was estimated to be 1.17 ± 1.57 ?g kg(-1) bw d(-1), and 40% of these infants had DOSEU exceeding the RfD (0.7 ?g kg(-1) bw d(-1)) recommended by U.S. EPA. However, approximately 70% of exclusively breast-fed infants had perchlorate exposure dose via breast milk exceeding the RfD. For breast-fed infants, breast milk was the overwhelmingly predominant exposure pathway; while infant formula and indoor dust ingestion were major perchlorate exposure sources for formula-fed infants. To our knowledge, this is the first report to assess the fetal and infantile exposure to perchlorate in China. PMID:26432537

  11. From Melanocyte to Metastatic Malignant Melanoma

    PubMed Central

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

    2010-01-01

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

  12. Gynecologic Malignancies Post-LeFort Colpocleisis

    PubMed Central

    2014-01-01

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

  13. Autocrine growth factors and solid tumor malignancy.

    PubMed Central

    Walsh, J. H.; Karnes, W. E.; Cuttitta, F.; Walker, A.

    1991-01-01

    The ability of malignant cells to escape the constraint that normally regulate cell growth and differentiation has been a primary focus of attention for investigators of cancer cell biology. An outcome of this attention has been the discovery that the protein products of oncogenes play a role in the activation of growth signal pathways. A second outcome, possibly related to abnormal oncogene expression, has been the discovery that malignant cells frequently show an ability to regulate their own growth by the release of autocrine growth modulatory substances. Most important, the growth of certain malignant cell types has been shown to depend on autocrine growth circuits. A malignant tumor whose continued growth depends on the release of an autocrine growth factor may be vulnerable to treatment with specific receptor antagonists or immunoneutralizing antibodies designed to break the autocrine circuit. Information is rapidly emerging concerning autocrine growth factors in selected human solid tissue malignancy. Images PMID:1926844

  14. Detection of global DNA hypomethylation of peripheral blood lymphocytes in patients with infantile spasms.

    PubMed

    Yang, Guang; Wang, Jing; Shi, Xiu-Yu; Yang, Xiao-Fan; Ju, Jun; Liu, Yu-Jie; Li, Zhi-Fang; Li, Yu-Fen; Zou, Li-Ping

    2015-01-01

    The pathogenesis of infantile spasms remains unclear. DNA methylation may play a pivotal role in the development of some types of neurological diseases, such as epilepsy. In this study, we aimed to investigate the relationship between global DNA methylation of peripheral blood leukocytes and cryptogenic infantile spasms. DNA from peripheral blood leukocytes was extracted from 20 patients with cryptogenic infantile spasms and 20 gender and age matched healthy controls. Global DNA methylation percentage of peripheral blood leukocytes was measured using a global DNA methylation quantification kit. Global DNA methylation levels of peripheral blood lymphocytes in patients with cryptogenic infantile spasms (23.4 ± 20.0%) were significantly lower than those in healthy controls (46.8 ± 8.4%). Furthermore, we did not find any association between the levels of DNA methylation and effectiveness of Adrenocorticotropic hormone treatment. Our study demonstrates that global DNA hypomethylation of peripheral blood lymphocytes is correlated with infantile spasms. This finding provides information for better understanding of the pathogenesis of infantile spasms. PMID:25524839

  15. Childhood malignancies and decision making.

    PubMed

    Holder, A R

    1992-01-01

    Failure to obtain "adequate" medical care for a child constitutes child neglect, which may be used as the basis for prosecution of parents, removal of the child from the home, or court-ordered medical treatment. "Adequate" care is usually construed as that which is given by a licensed physician, but, in case of dispute, courts almost never engage in choosing one medical approach over another. The principle that parents may not refuse medical care, however, is made very difficult when children have malignancies--the long-term nature of the treatment means that, if the child is left at home, court order or not, the parents may flee with their child. Removing the child from the home, however, adds that trauma to the ill child's burdens. Questions should be asked before making a request to a court to order a therapy which will prolong but not save a child's life if the parents would prefer to spare their child the side effects. Parents, however, may always refuse to permit their child to participate in research studies, no matter how promising. Adolescents are increasingly believed to be capable of medical decision making; most courts, however, would not allow an adolescent to refuse life-saving treatment. PMID:1519381

  16. Esophageal malignancy: A growing concern

    PubMed Central

    Chai, Jianyuan; Jamal, M Mazen

    2012-01-01

    Esophageal cancer is mainly found in Asia and east Africa and is one of the deadliest cancers in the world. However, it has not garnered much attention in the Western world due to its low incidence rate. An increasing amount of data indicate that esophageal cancer, particularly esophageal adenocarcinoma, has been rising by 6-fold annually and is now becoming the fastest growing cancer in the United States. This rise has been associated with the increase of the obese population, as abdominal fat puts extra pressure on the stomach and causes gastroesophageal reflux disease (GERD). Long standing GERD can induce esophagitis and metaplasia and, ultimately, leads to adenocarcinoma. Acid suppression has been the main strategy to treat GERD; however, it has not been proven to control esophageal malignancy effectively. In fact, its side effects have triggered multiple warnings from regulatory agencies. The high mortality and fast growth of esophageal cancer demand more vigorous efforts to look into its deeper mechanisms and come up with better therapeutic options. PMID:23236223

  17. Novel immunotherapies for hematological malignancies

    PubMed Central

    Nelson, Michelle H.; Paulos, Chrystal M.

    2014-01-01

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

  18. Malignant ascites: pathophysiology and treatment.

    PubMed

    Cavazzoni, Emanuel; Bugiantella, Walter; Graziosi, Luigina; Franceschini, Maria Silvia; Donini, Annibale

    2013-02-01

    Malignant ascites (MA) accompanies a variety of abdominal and extra-abdominal tumors. It is a primary cause of morbidity and raises several treatment challenges. MA has several symptoms, producing a significant reduction in the patient's quality of life: loss of proteins and electrolyte disorders cause diffuse oedema, while the accumulation of abdominal fluid facilitates sepsis. Treatment options include a multitude of different procedures with limited efficacy and some degree of risk. A Pubmed, Medline, Embase, and Cochrane Library review of medical, interventional and surgical treatments of MA has been performed. Medical therapy, primarily paracentesis and diuretics, are first-line treatments in managing MA. Paracentesis is widely adopted but it is associated with significant patient discomfort and several risks. Diuretic therapy is effective at the very beginning of the disease but efficacy declines with tumor progression. Intraperitoneal chemotherapy, targeted therapy, immunotherapy and radioisotopes are promising medical options but their clinical application is not yet completely elucidated, and further investigations and trials are necessary. Peritoneal-venous shunts are rarely used due to high rates of early mortality and complications. Laparoscopy and hyperthermic intraperitoneal chemotherapy (HIPEC) have been proposed as palliative therapy. Literature on the use of laparoscopic HIPEC in MA includes only reports with small numbers of patients, all showing successful control of ascites. To date, none of the different options has been subjected to evidence-based clinical trials and there are no accepted guidelines for the management of MA. PMID:22460778

  19. Novel immunotherapies in lymphoid malignancies.

    PubMed

    Batlevi, Connie Lee; Matsuki, Eri; Brentjens, Renier J; Younes, Anas

    2016-01-01

    The success of the anti-CD20 monoclonal antibody rituximab in the treatment of lymphoid malignancies provided proof-of-principle for exploiting the immune system therapeutically. Since the FDA approval of rituximab in 1997, several novel strategies that harness the ability of T cells to target cancer cells have emerged. Reflecting on the promising clinical efficacy of these novel immunotherapy approaches, the FDA has recently granted 'breakthrough' designation to three novel treatments with distinct mechanisms. First, chimeric antigen receptor (CAR)-T-cell therapy is promising for the treatment of adult and paediatric relapsed and/or refractory acute lymphoblastic leukaemia (ALL). Second, blinatumomab, a bispecific T-cell engager (BiTE(®)) antibody, is now approved for the treatment of adults with Philadelphia-chromosome-negative relapsed and/or refractory B-precursor ALL. Finally, the monoclonal antibody nivolumab, which targets the PD-1 immune-checkpoint receptor with high affinity, is used for the treatment of Hodgkin lymphoma following treatment failure with autologous-stem-cell transplantation and brentuximab vedotin. Herein, we review the background and development of these three distinct immunotherapy platforms, address the scientific advances in understanding the mechanism of action of each therapy, and assess the current clinical knowledge of their efficacy and safety. We also discuss future strategies to improve these immunotherapies through enhanced engineering, biomarker selection, and mechanism-based combination regimens. PMID:26525683

  20. Malignant mesothelioma in Eastern Asia.

    PubMed

    Bianchi, Claudio; Bianchi, Tommaso

    2012-01-01

    Relatively low numbers of malignant mesotheliomas have been reported from Eastern Asia. In order to explore the causes of this fact, the available data on mesothelioma incidence/mortality in five countries (Japan, South Korea, Taiwan, Hong Kong, and Singapore) were reviewed. Data on the industrial histories of the above countries were also examined. Mesothelioma incidence was low, despite a history of high shipbuilding and port activities, in which heavy exposure to asbestos generally has occurred. Underestimation of mesothelioma could partly explain the above discrepancy. Moreover, in some areas a sufficient latency period for mesothelioma development may have not yet elapsed, due to recent industrialization. However, other possibilities have to be considered. The cancer epidemiology in Eastern Asia differs deeply from that seen in Western countries, an indication of differences in etiologic factors of cancer as well as in co-factors. In addition, the oncogenic spectrum of asbestos is wide, and not completely defined. In a very different milieu from that of Western countries, asbestos could preferentially hit targets other than serosal membranes. PMID:23244069

  1. [Pleurodesis in malignant pleural effusion].

    PubMed

    Bronner, G M; Baas, P; Beijnen, J H

    1997-09-20

    About 50% of the pleural effusions diagnosed are caused by a malignancy, especially by thoracic, pulmonary and ovarian cancer and lymphomas. The accumulation of fluid is caused by metastasization to the pleura and obstruction of lymph vessels and nodes. The effusion generally decreases if the tumour responds to systemic treatment. However, frequently this does not occur and the fluid has to be removed, to alleviate symptoms such as dyspnoea, coughing and a heavy sensation in the chest. Possible surgical therapies are draining through a needle or a drain, (partial) pleural resection and the creation of a pleuro-peritoneal shunt. Disadvantages of these are early recurrences, the severity of the intervention and (or) the high morbidity and mortality. The current standard treatment is pleurodesis brought about by a sclerosing agent, usually via a drain. The substances preferably used for this purpose are, in the order of decreasing importance, tetracycline, bleomycin or talc, doxycycline or minocycline. The most frequent adverse effects are chest pain and fever during and after the pleurodesis. PMID:9545735

  2. Improved radioimmunotherapy of hematologic malignancies

    SciTech Connect

    Press, O.W.

    1992-03-24

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

  3. Noncoding RNAs in Endocrine Malignancy

    PubMed Central

    Kentwell, Jessica; Gundara, Justin S.

    2014-01-01

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

  4. CT of malignant pleural mesothelioma

    SciTech Connect

    Alexander, E.; Clark, R.A.; Colley, D.P.; Mitchell, S.E.

    1981-08-01

    Malignant pleural mesothelioma is a rare tumor. Although the chest film findings of pleural mesothelioma are well described, there are few descriptions of the findings of computed tomography (CT). This report describes the CT findings in five cases of pleural mesothelioma. In each case the CT showed an extensive, irregular, pleural-based mass surrounding the lung, spreading into the fissures, and extending into the mediastinum. In two cases there was also extension into the contralateral chest, and in one case each there was extension into the abdomen and chest wall. In each case the chest radiographs underestimated the extent of disease, when compared to CT. When an irregular, pleural-based mass involving most of the hemithorax is identified on CT, the diagnosis of mesothelioma can be suggested and at the same time the extent of the tumor may be evaluated. This is important because the diagnosis of mesothelioma is difficult and because treatment and prognosis may depend on the extent of the disease.

  5. Insulinoma with focal hepatic lesions: malignant insulinoma?

    PubMed

    Jerraya, Hichem; Zidi-Mouaffek, Yossra; Dokmak, Safi; Dziri, Chadli

    2015-01-01

    Insulinoma is a rare tumour that is malignant in only 10% of cases. We report a case of insulinoma in a 59-year-old woman, associated with focal liver lesions, which raised the suspicion of malignancy of a pancreatic tumour. Enucleation of the insulinoma was performed with wedge resection of one hepatic nodule. Pathological examination indicated that the pancreatic tumour was compatible with insulinoma whereas the hepatic lesion was related to focal nodular hyperplasia. This clinical case highlights the need for histopathological proof of malignancy before selecting therapeutic strategies for insulinomas. PMID:26670896

  6. Malignant Mesothelioma Diagnosed by Bronchoscopic Biopsy

    PubMed Central

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

    2015-01-01

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

  7. Secondary prevention of cutaneous malignant melanoma.

    PubMed

    MacKie, R M

    1997-08-01

    The incidence of cutaneous malignant melanoma continues to increase in most parts of the world. Survival rates for melanoma patients show a striking difference between those diagnosed with thin primary tumours, and those whose tumours are only 2 mm thicker at the time of excision. This fact together with the poor response rates to current non-surgical therapies makes a clear case for earlier diagnosis and prompt surgical treatment of primary cutaneous malignant melanoma. Campaigns aimed at both early diagnosis (secondary prevention) and also at primary prevention of cutaneous malignant melanoma are discussed and methods of their evaluation considered. PMID:9578431

  8. Canine olfactory detection of malignant melanoma

    PubMed Central

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

    2013-01-01

    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

  9. MRI findings in infants with infantile spasms after neonatal hypoxic-ischemic encephalopathy

    PubMed Central

    Dawn, Gano; Sargent, Michael A.; Miller, Steven P.; Connolly, Mary B.; Wong, Peter; Glass, Hannah C.; Poskitt, Kenneth J.; Chau, Vann

    2014-01-01

    Background To evaluate the predominant pattern of brain injury and the anatomic areas of injury in children with infantile spasms following neonatal hypoxic-ischemic encephalopathy (HIE). Methods A nested case-control study of infantile spasms in children with term neonatal HIE was performed. All patients had T1/T2-weighted magnetic resonance imaging (MRI) with diffusion-weighted imaging (DWI) performed on the third day of life. Using a validated scoring system, the MRI was classified as: normal, watershed, basal ganglia/thalamus, total, or focal-multifocal. Two study investigators scored additional anatomic areas of injury (cortical extent, levels of the brainstem, hypothalamus) on T1/T2-weighted MRI and DWI blinded to the outcome. The predominant pattern of brain injury and anatomic areas of injury were compared between patients who developed infantile spasms and randomly selected controls. Results Eight patients who developed infantile spasms were identified among a cohort of 176 term newborns with HIE (4.5%). There were no significant differences in the perinatal and neonatal course between newborns who developed infantile spasms and controls who did not. The development of infantile spasms after neonatal HIE was significantly associated with basal ganglia/thalamus and total brain injury (P=.001), extent of cortical injury greater than 50% (odds ratio [OR]=11.7, 95% confidence interval [CI]=1.1-158.5, P=.01), injury to the midbrain (OR=13, 95% CI=1.3 to 172, P=.007) and hypothalamic abnormalities (P=.01). Conclusions The development of infantile spasms after HIE is associated with injury to the basal ganglia and thalami on neonatal MRI, particularly when extensive cortical injury and/or injury to the midbrain is present. PMID:24095571

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

    PubMed Central

    2010-01-01

    Background Infantile spasms represent a serious epileptic syndrome that occurs in the early infantile age. ACTH and Vigabatrin are actively investigated drugs in its treatment. This study describes the comparison of their efficacy in a large series of patients with infantile spasms from Pakistan. Methods All patients with infantile spasms who presented to Aga Khan University Hospital, Karachi, Pakistan from January, 2006 to April, 2008 were included in this study. Inclusion criteria were clinical symptoms of infantile spasms, hypsarrythmia or modified hyparrythmia on electroencephalography, at least six months of follow-up period and receipt of any of the two drugs mentioned above. The type of drug distribution was random according to the availability, cost and ease of administration. Results Fifty six cases fulfilled the inclusion criteria. 62.5% were males. Mean age at onset of seizures was 5 ± 1.4 months. Fifty two (92.8%) patients demonstrated hypsarrythmia on electroencephalography. 64.3% cases were identified as symptomatic while 19.6% were cryptogenic and 16.1% were idiopathic. Eighteen patients received ACTH while 38 patients received Vigabatrin as first line therapy. Initial response to first line therapy was similar (50% for ACTH and 55.3% for Vigabatrin). Overall, the symptomatic and idiopathic groups responded better to Vigabatrin. The relapse rate was higher for ACTH as compared to Vigabatrin (55.5% vs. 33.3%) when considering the first line therapy. Four patients evolved to Lennox-Gastaut variant; all of these patients had initially received Vigabatrin and then ACTH. Conclusion Vigabatrin and ACTH showed no significant difference in the initial treatment of infantile spasms. However, patients receiving ACTH were 1.2 times more likely to relapse as compared to the patients receiving Vigabatrin when considering monotherapy. We suggest that Vigabatrin should be the initial drug of choice in patients presenting with infantile spasms. However, larger studies from developing countries are required to validate the therapeutic trends observed in this study. PMID:20078871

  11. Young Cancer Survivors Often Develop New Malignancies

    MedlinePLUS

    ... fullstory_155005.html Young Cancer Survivors Often Develop New Malignancies Teens, young adults who received radiation treatment ... risk for other cancers later in life, a new study reveals. Researchers analyzed U.S. National Cancer Institute ...

  12. Emergency Management of Malignancy-Associated Hypercalcemia.

    PubMed

    Dellay, Bethany; Groth, Meghan

    2016-01-01

    The most common cause of hypercalcemia in the emergency department (ED) is malignancy-associated hypercalcemia (MAH), which can be caused by direct bone resorption from bone metastases, vitamin D secreting malignancies, and increased parathyroid hormone (PTH) or PTH-related protein (PTHrP) levels. Malignancy-associated hypercalcemia is associated with a very poor prognosis, with half of the patients dying within a month of diagnosis. Management consists of adequate hydration, bisphosphonate therapy, and correction of other abnormal electrolyte levels. Currently, no therapies have demonstrated an effect on mortality and are therefore viewed only as a means of stabilizing the patient until the underlying condition can be treated. All MAH patients should receive an oncology consult as soon as possible so they are able to receive treatment for the causative malignancy and increase their chance of survival. PMID:26817427

  13. Localized malignant mesothelioma: a case report.

    PubMed

    Ojeda, H F; Mech, K; Hicken, W J

    1998-09-01

    Localized malignant mesothelioma is an extremely rare form of presentation of malignant mesotheliomas. Only six cases have been reported. A 66-year-old male, former smoker, with occupational exposure to asbestos for 35 years, presented complaining of increasing fatigability, low-grade fever and anorexia for 4 weeks. The chest radiography showed a left lung mass. The computed tomography showed a 5-cm left posterior mass. The biopsy showed malignant cells. The patient underwent a surgical en bloc resection of the tumor. Pathology revealed a localized, poorly differentiated mesothelioma. Immunohistochemistry was positive for cytokeratin and vimentin while negative for carcinoembryonic antigen and Leu-M1. The final diagnosis was localized malignant mesothelioma. Aggressive resection of the tumor has shown to increase survival in previous reports, although the biological behavior of such tumors is still difficult to predict. PMID:9731819

  14. Malignancy in Noonan syndrome and related disorders.

    PubMed

    Smpokou, P; Zand, D J; Rosenbaum, K N; Summar, M L

    2015-12-01

    Noonan syndrome (NS) and related disorders, such as NS with multiple lentigines (formerly called LEOPARD syndrome), cardiofaciocutaneous syndrome, and Costello syndrome, constitute an important group of developmental malformation syndromes with variable clinical and molecular features. Their underlying pathophysiologic mechanism involves dysregulation of the Ras/mitogen-activated protein kinase signaling pathway, an essential mediator of developmental and growth processes in the prenatal and postnatal setting. Malignant tumor development is an important complication encountered in other RASopathies, such as neurofibromatosis type 1, but the neoplastic risks and incidence of malignant tumors are less clearly defined in NS and related disorders of the Noonan spectrum. Malignant tumor development remains an important complication variably seen in the RASopathies and, thus, a clear understanding of the underlying risks is essential for appropriate clinical care in this patient population. This review discusses previously published reports of malignancies in individuals with RASopathies of the Noonan spectrum. PMID:25683281

  15. The Role of PTEN in Myeloid Malignancies

    PubMed Central

    Panuzzo, Cristina; Crivellaro, Sabrina; Carrà, Giovanna; Torti, Davide; Guerrasio, Angelo; Saglio, Giuseppe

    2015-01-01

    PTEN deletion in the mouse and in the zebrafish highlights the essential role of this tumor suppressor in the development of myeloid malignancies, in particular acute myeloid leukemia and myeloproliferative disorders. In humans, extensive genetic sequences of myeloid malignancies did not reveal recurrent PTEN mutations and deletions. However, PTEN was shown to be functionally inactivated in several acute myeloid leukemia and chronic myeloid leukemia samples, through both post-trasductional modifications, changes in protein levels and cellular compartmentalization. Notably, non genomic inactivation of PTEN in myeloid malignancies could represent a challenging therapeutic opportunity for these diseases. Targeting those mechanisms that affect PTEN function could indeed promote PTEN reactivation with consequent cancer selective apoptosis induction. In this review we will describe the role of PTEN in the development of myeloid malignancies. PMID:26734127

  16. Malignant pleural mesothelioma in Italy

    PubMed Central

    Bianchi, Claudio; Bianchi, Tommaso

    2009-01-01

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

  17. Malignant pleural mesothelioma in Italy.

    PubMed

    Bianchi, Claudio; Bianchi, Tommaso

    2009-08-01

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

  18. Malignant catarrhal fever: a review.

    PubMed

    Russell, George C; Stewart, James P; Haig, David M

    2009-03-01

    Malignant catarrhal fever (MCF) is a fatal lymphoproliferative disease of cattle and other ungulates caused by the ruminant gamma-herpesviruses alcelaphine herpesvirus 1 (AlHV-1) and ovine herpesvirus 2 (OvHV-2). These viruses cause inapparent infection in their reservoir hosts (wildebeest for AlHV-1 and sheep for OvHV-2), but fatal lymphoproliferative disease when they infect MCF-susceptible hosts, including cattle, deer, bison, water buffalo and pigs. MCF is an important disease wherever reservoir and MCF-susceptible species mix and currently is a particular problem in Bali cattle in Indonesia, bison in the USA and in pastoralist cattle herds in Eastern and Southern Africa. MCF is characterised by the accumulation of lymphocytes (predominantly CD8(+) T lymphocytes) in a variety of organs, often associated with tissue necrosis. Only a small proportion of these lymphocytes appear to contain virus, although recent results with virus gene-specific probes indicate that more infected cells may be present than previously thought. The tissue damage in MCF is hypothesised to be caused by the indiscriminate activity of MHC-unrestricted cytotoxic T/natural killer cells. The pathogenesis of MCF and the virus life cycle are poorly understood and, currently, there is no effective disease control. Recent sequencing of the OvHV-2 genome and construction of an AlHV-1 bacterial artificial chromosome (BAC) are facilitating studies to understand the pathogenesis of this extraordinary disease. Furthermore, new and improved methods of disease diagnosis have been developed and promising vaccine strategies are being tested. The next few years are likely to be exciting and productive for MCF research. PMID:18760944

  19. Recognition of common childhood malignancies.

    PubMed

    Young, G; Toretsky, J A; Campbell, A B; Eskenazi, A E

    2000-04-01

    Although cancer has an annual incidence of only about 150 new cases per 1 million U.S. children, it is the second leading cause of childhood deaths. Early detection and prompt therapy have the potential to reduce mortality. Leukemias, lymphomas and central nervous system tumors account for more than one half of new cancer cases in children. Early in the disease, leukemia may cause nonspecific symptoms similar to those of a viral infection. Leukemia should be suspected if persistent vague symptoms are accompanied by evidence of abnormal bleeding, bone pain, lymphadenopathy or hepatosplenomegaly. The presenting symptoms of a brain tumor may include elevated intracranial pressure, nerve abnormalities and seizures. A spinal tumor often presents with signs and symptoms of spinal cord compression. In children, lymphoma may present as one or more painless masses, often in the neck, accompanied by signs and symptoms resulting from local compression, as well as signs and symptoms of systemic disturbances, such as fever and weight loss. A neuroblastoma may arise from sympathetic nervous tissue anywhere in the body, but this tumor most often develops in the abdomen. The presentation depends on the local effects of the solid tumor and any metastases. An abdominal mass in a child may also be due to Wilms' tumor. This neoplasm may present with renal signs and symptoms, such as hypertension, hematuria and abdominal pain. A tumor of the musculoskeletal system is often first detected when trauma appears to cause pain and dysfunction out of proportion to the injury. Primary care physicians should be alert for possible presenting signs and symptoms of childhood malignancy, particularly in patients with Down syndrome or other congenital and familial conditions associated with an increased risk of cancer. PMID:10779255

  20. Dual Primary Malignancy: A Rare Organ Combination

    PubMed Central

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

    2014-01-01

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

  1. Cancer associated fibroblasts in hematological malignancies

    PubMed Central

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

    2015-01-01

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

  2. Primary malignant achromic melanoma of the lung

    PubMed Central

    Lazarou, Ilias; Purek, Lesek; Duc, Christophe; Licker, Marc-Joseph; Spiliopoulos, Anastase; Tschopp, Jean-Marie

    2014-01-01

    Currently, less than thirty cases of primary malignant melanoma of the lung have been reported in the literature. Thus, strict criteria for diagnosis have been published and include: malignant melanoma associated with bronchial epithelial changes; a solitary lung tumor; no prior history of skin, mucous membrane, intestinal or ocular melanoma; and absence of any other detectable tumor at the time of diagnosis. In this article we present a case of melanoma of the lung without evidence of extra-pulmonary disease. PMID:26766979

  3. [Malignant hyperthermia and its differential diagnosis].

    PubMed

    Hüttemann, K; Nowe, T; Köhrmann, M; Anetseder, M; Schellinger, P D

    2009-04-01

    Hyperthermia affects almost all endogenous regulatory systems, where especially cardiovascular and central nervous system interactions can result in life threatening complications. This review illustrates signs and symptoms, pathophysiology and therapeutic options of the three most common hyperthermic syndromes in neurology: malignant hyperthermia, serotonine-syndrom and malignant neuroleptic syndrome. The aim of this contribution is to enable the reader to make the differential diagnosis of these three disease entities. Furthermore the association of other specific myopathies and hyperthermia syndromes is discussed. PMID:19347791

  4. Incidence and Overall Survival of Malignant Ameloblastoma

    PubMed Central

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

    2015-01-01

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

  5. Malignant melanoma as second malignant neoplasm in long-term childhood cancer survivors: a systematic review.

    PubMed

    Braam, Katja I; Overbeek, Annelies; Kaspers, Gertjan J L; Ronckers, Cecile M; Schouten-van Meeteren, Annette Y N; Van Dulmen-Den Broeder, Eline; Veening, Margreet A

    2012-05-01

    This systematic review provides information on malignant melanoma as second malignant neoplasm (SMN) after childhood cancer and evaluates its risk factors. Study reports describing incidences of SMN and malignant melanoma as SMN in a population of childhood cancer survivors (CCS) were included. Of 151,575 CCS, 4,010 (2.6%) children developed an SMN, 212 of which were melanoma (5.3% or 0.14% of all CCS). The following risk factors for malignant melanoma as SMN were identified: radiotherapy, or the combination alkylating agents and anti-mitotic drugs. Melanomas are most frequently observed after Hodgkin disease, hereditary retinoblastoma, soft tissue sarcoma, and gonadal tumors. PMID:22232079

  6. Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes.

    PubMed

    Torisu, Hiroyuki; Watanabe, Kyoko; Shimojima, Keiko; Sugawara, Midori; Sanefuji, Masafumi; Ishizaki, Yoshito; Sakai, Yasunari; Yamashita, Hironori; Yamamoto, Toshiyuki; Hara, Toshiro

    2014-04-01

    This paper documents the case of a female Japanese patient with infantile focal epilepsy, which was different from benign infantile seizures, and a family history of infantile convulsion and paroxysmal choreoathetosis. The patient developed partial seizures (e.g., psychomotor arrest) at age 14 months. At the time of onset, interictal electroencephalography (EEG) showed bilateral parietotemporal spikes, but the results of neurologic examination and brain magnetic resonance imaging were normal. Her seizures were well controlled with carbamazepine, and she had a normal developmental outcome. EEG abnormalities, however, persisted for more than 6 years, and the spikes moved transiently to the occipital area and began to resemble the rolandic spikes recognized in benign childhood epilepsy. Her father had paroxysmal kinesigenic dyskinesia, with an onset age of 6 years, and her youngest sister had typical benign infantile seizures. Genetic analysis demonstrated that all affected members had a heterozygous mutation of c.649_650insC in the proline-rich transmembrane protein-2 (PRRT2) gene. This case indicates that the phenotypic spectrum of infantile seizures or epilepsy with PRRT2-related pathology may be larger than previously expected, and that genetic investigation of the effect of PRRT2 mutations on idiopathic seizures or epilepsy in childhood may help elucidate the pathological backgrounds of benign childhood epilepsy. PMID:23768507

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

    PubMed Central

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

    2015-01-01

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

  8. Safety and Efficacy of Vigabatrin for the Treatment of Infantile Spasms

    PubMed Central

    Faulkner, Michele A.; Tolman, Justin A.

    2011-01-01

    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

  9. The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex

    PubMed Central

    O'Callaghan, F; Harris, T; Joinson, C; Bolton, P; Noakes, M; Presdee, D; Renowden, S; Shiell, A; Martyn, C; Osborne, J

    2004-01-01

    Background: The aetiology of the learning difficulty in tuberous sclerosis is debated. It may be related to the amount of tubers in the brain or caused by the infantile spasms that occur in early life. Aims: To examine the relative contributions to final intelligence (IQ) made by both cerebral tubers and infantile spasms. Methods: As part of an epidemiological study of tuberous sclerosis in the south of England, patients were recruited who were able to undergo magnetic resonance imaging (MRI) without the need for an anaesthetic. Epilepsy history was determined by interview and review of clinical records. IQ was assessed using either Wechsler intelligence scales or Raven's matrices. Results: A total of 41 patients consented to have an MRI scan. IQ scores were normally distributed about a mean of 91. Twenty six patients had a positive history of epilepsy, and 11 had suffered from infantile spasms. There was a significant relation between the number of tubers and IQ. Infantile spasm status partly confounded the relation between tubers and IQ, but did not render the relation statistically insignificant. The relation between infantile spasms and learning difficulty remained strong even when controlling for the number of tubers. PMID:15155396

  10. The response to ACTH is determined early in the treatment of infantile spasms.

    PubMed

    Mytinger, John R; Weber, Amanda; Heyer, Geoffrey L

    2015-03-01

    Although adrenocorticotropic hormone is the most commonly used treatment for infantile spasms in the United States, the optimal regimen for this indication is not known. The purpose of this study was to elucidate the optimal adrenocorticotropic hormone treatment duration. We conducted a retrospective chart review of response to adrenocorticotropic hormone among all patients with infantile spasms managed at our institution from January 2009 to September 2013. Treatment response was defined as clinical remission for greater than or equal to 28 days starting at any point within the adrenocorticotropic hormone course and remission of hypsarrhythmia (or definite EEG improvement if hypsarrhythmia was absent at baseline). For responders, the diagnostic and post-treatment EEG tracings were reviewed. Electroclinical remission was achieved in 21 of 39 patients (54%) receiving adrenocorticotropic hormone, including 11/25 (44%) receiving a long course (typically 12 weeks) and 10/14 (71%) receiving a short course (typically four weeks). The mean time to clinical remission was 5.8 days (median: 5 days; range: 1-20 days). Only one patient responded beyond two weeks of treatment. This study provides Class IV evidence that among patients with infantile spasms, the response to adrenocorticotropic hormone is most often determined early in the treatment course. Given the importance of rapid remission, clinicians should consider adding or changing treatment if infantile spasms do not resolve within two weeks of adrenocorticotropic hormone initiation. Further study is needed to determine the optimal adrenocorticotropic hormone regimen for infantile spasms. PMID:25644547

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

    NASA Astrophysics Data System (ADS)

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

    2012-06-01

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

  12. Ontogeny of memory: An update on 40 years of work on infantile amnesia.

    PubMed

    Madsen, Heather Bronwyn; Kim, Jee Hyun

    2016-02-01

    Given the profound influence that early life experiences can have upon psychosocial functioning later in life, it is intriguing that most adults fail to recall autobiographical events from their early childhood years. Infantile amnesia is the term used to describe this phenomenon of accelerated forgetting during infancy, and it is not unique to humans. Over the years, information garnered from animal studies has provided clues as to the neurobiological basis of infantile amnesia. The purpose of this review is to provide a neurobiological update on what we now know about infantile amnesia since the publication of Campbell and Spear's seminal review on the topic more than 40 years ago. We present evidence that infantile amnesia is unlikely to be explained by a unitary theory, with the protracted development of multiple brain regions and neurotransmitter systems important for learning and memory likely to be involved. The recent discovery that exposure to early life stress can alleviate infantile amnesia offers a potential explanation as to how early adversity can so profoundly affect mental health in adulthood, and understanding the neurobiological basis for this early transition may lead to the development of effective therapeutic interventions. PMID:26190765

  13. Very long-term recall in infants: infantile amnesia reconsidered.

    PubMed

    McDonough, L; Mandler, J M

    1994-12-01

    Subjects who had participated in a study on non-verbal recall before their first birthday returned to the laboratory one year later and were tested for recall of their previous visit. During their previous visit they had shown recall of both familiar and novel actions on a set of novel objects. However, after a year's delay, evidence for recall was found for the familiar actions only. One action in particular was responsible for this finding: feeding a teddy bear with a schematic bottle. The majority of the returning subjects who had been shown this action repeated it after a year, whereas none of the other returning subjects and few of the subjects in the control groups performed this action. The results indicate that young infants have the ability to recall an event both at 11 months of age and after a delay as long as one year. The finding that infants can recall during a period that later becomes inaccessible to memory is important to our understanding of infantile amnesia. PMID:7584299

  14. Contribution of Embodiment to Solving the Riddle of Infantile Amnesia

    PubMed Central

    Glenberg, Arthur M.; Hayes, Justin

    2016-01-01

    At least since the late nineteenth century, researchers have sought an explanation for infantile amnesia (IA)—the lack of autobiographical memories dating from early childhood—and childhood amnesia (CA), faster forgetting of events up until the age of about seven. Evidence suggests that IA occurs across altricial species, and a number of studies using animal models have converged on the hypothesis that maturation of the hippocampus is an important factor. But why does the hippocampus mature at one time and not another, and how does that maturation relate to memory? Our hypothesis is rooted in theories of embodied cognition, and it provides an explanation both for hippocampal development and the end of IA. Specifically, the onset of locomotion prompts the alignment of hippocampal place cells and grid cells to the environment, which in turn facilitates the ontogeny of long-term episodic memory and the end of IA. That is, because the animal can now reliably discriminate locations, location becomes a stable cue for memories. Furthermore, as the mode of human locomotion shifts from crawling to walking, there is an additional shift in the alignment of the hippocampus that marks the beginning of adult-like episodic memory and the end of CA. Finally, given a reduction in self-locomotion and exploration with aging, the hypothesis suggests a partial explanation for cognitive decline with aging. PMID:26834683

  15. Quick Phases of Infantile Nystagmus Show the Saccadic Inhibition Effect

    PubMed Central

    Harrison, James J.; Sumner, Petroc; Dunn, Matt J.; Erichsen, Jonathan T.; Freeman, Tom C. A.

    2015-01-01

    Purpose. Infantile nystagmus (IN) is a pathological, involuntary oscillation of the eyes consisting of slow, drifting eye movements interspersed with rapid reorienting quick phases. The extent to which quick phases of IN are programmed similarly to saccadic eye movements remains unknown. We investigated whether IN quick phases exhibit ‘saccadic inhibition,' a phenomenon typically related to normal targeting saccades, in which the initiation of the eye movement is systematically delayed by task-irrelevant visual distractors. Methods. We recorded eye position from 10 observers with early-onset idiopathic nystagmus while task-irrelevant distractor stimuli were flashed along the top and bottom of a large screen at ±10° eccentricity. The latency distributions of quick phases were measured with respect to these distractor flashes. Two additional participants, one with possible albinism and one with fusion maldevelopment nystagmus syndrome, were also tested. Results. All observers showed that a distractor flash delayed the execution of quick phases that would otherwise have occurred approximately 100 ms later, exactly as in the standard saccadic inhibition effect. The delay did not appear to differ between the two main nystagmus types under investigation (idiopathic IN with unidirectional and bidirectional jerk). Conclusions. The presence of the saccadic inhibition effect in IN quick phases is consistent with the idea that quick phases and saccades share a common programming pathway. This could allow quick phases to take on flexible, goal-directed behavior, at odds with the view that IN quick phases are stereotyped, involuntary eye movements. PMID:25670485

  16. Persistent neurogenic bladder dysfunction due to infantile botulism

    PubMed Central

    Breinbjerg, Anders; Rittig, Søren; Kamperis, Konstantinos

    2014-01-01

    We present a child, 5 months of age, diagnosed with infantile botulism, showing the signs of neurogenic bladder dysfunction. The patient presented with progressive muscle weakness, hypotonia, suckling and swallowing problems and absent peripheral reflexes at clinical examination. Botulinum neurotoxin type A was detected in her serum, confirming the diagnosis. Starting at day 6, the girl presented with a urinary retention initially necessitating free bladder drainage and subsequently intermittent catheterisation. After 6 weeks in intensive care, the patient recovered but the bladder underactivity persisted. Four months following recovery, a urodynamic evaluation was performed, showing a near normal detrusor activity and normal bladder emptying, and the catheterisation was ceased. At 6 months, the girl was diagnosed with a urinary tract infection and bladder emptying problems, which persisted, and clean intermittent catheterisation was started. The final urodynamic evaluation, a year and a half after her initial presentation, revealed a normal detrusor activity and an adequate bladder emptying. PMID:24419642

  17. Cardiovascular drugs in the treatment of infantile hemangioma

    PubMed Central

    Fernandez-Pineda, Israel; Williams, Regan; Ortega-Laureano, Lucia; Jones, Ryan

    2016-01-01

    Since the introduction of propranolol in the treatment of complicated infantile hemangiomas (IH) in 2008, other different beta-blockers, including timolol, acetabutolol, nadolol and atenolol, have been successfully used for the same purpose. Various hypotheses including vasoconstriction, inhibition of angiogenesis and the induction of apoptosis in proliferating endothelial cells have been advanced as the potential beta-blocker-induced effect on the accelerated IH involution, although the exact mechanism of action of beta-blockers remains unknown. This has generated an extraordinary interest in IH research and has led to the discovery of the role of the renin-angiotensin system (RAS) in the biology of IH, providing a plausible explanation for the beta-blocker induced effect on IH involution and the development of new potential indications for RAS drugs such as angiotensin-converting enzyme inhibitors and angiotensin-receptor blockers in the treatment of IH. This review is focused on the current use of cardiovascular drugs in the treatment of IH. PMID:26839658

  18. Efficacious Healing of Ulcerated Infantile Hemangiomas Using Topical Timolol.

    PubMed

    Chang, Chun-Shin; Kang, Gavin Chun-Wui

    2016-02-01

    Infantile hemangiomas (IHs) are the most common benign pediatric soft-tissue tumors. Ulceration-the most frequent complication of IH-tends to heal poorly and is associated with pain, bleeding, infection, and scarring. Mainstay treatment modalities include propranolol (β-blocker) and corticosteroids, whose effectiveness is countered by a need for long-term medication and risk of systemic adverse effects and ulcer recurrence. A 3-month-old infant presented to us with a large, medial thigh-ulcerated IH that progressed despite 2 prior months of dressings and topical antimicrobials. Topical timolol 0.5% thrice daily was initiated, and significant healing was evident at 1 week, with complete healing at 1 month. Timolol was stopped after 3 months, and at 18 months after cessation of timolol, there was no ulcer recurrence. This novel therapy for ulcerated IH seems to have many advantages such as rapid efficacy with easy application, no systemic adverse effects and no long-term recurrence, and current literature describing similar advantages justifies the use of this treatment modality in infants. PMID:27014550

  19. The Role of FRMD7 in Idiopathic Infantile Nystagmus

    PubMed Central

    Watkins, Rachel J.; Thomas, Mervyn G.; Talbot, Chris J.; Gottlob, Irene; Shackleton, Sue

    2012-01-01

    Idiopathic infantile nystagmus (IIN) is an inherited disorder in which the nystagmus arises independently of any other symptoms, leading to the speculation that the disorder represents a primary defect in the area of the brain responsible for ocular motor control. The inheritance patterns are heterogeneous, however the most common form is X-linked. FRMD7 resides at Xq26-27 and approximately 50% of X-linked IIN families map to this region. Currently 45 mutations within FRMD7 have been associated with IIN, confirming the importance of FRMD7 in the pathogenesis of the disease. Although mutations in FRMD7 are known to cause IIN, very little is known about the function of the protein. FRMD7 contains a conserved N-terminal FERM domain suggesting that it may provide a link between the plasma membrane and actin cytoskeleton. Limited studies together with the knowledge of the function of other FERM domain containing proteins, suggest that FRMD7 may play a role in membrane extension during neuronal development through remodeling of the actin cytoskeleton. PMID:21904664

  20. Prognostic significance of depression occurrence in infantile autism.

    PubMed

    Scifo, R; Calandra, C; Parrinello, M A; Marchetti, B

    1996-11-01

    Autistic children undergoing therapeutic programs, which adopt in our service (USL 3 CT) different theoretical approaches, sometimes show a marked reduction in motor activities, a lowering of tone of voice, physical expression of sadness. We observe that animation is absent in the scene they may draw and colours are no longer used in their drawings. Sleep disturbance may appear or reappearance of enuresis. Many authors consider these symptoms as signs of depression. These changes, even though they create new problems in therapeutic management, are, in our opinion, a very important index of the unblocking of autistic withdrawal and beginning of development of those emotional, relational and cognitive components which seem to be frozen in autistic children and inhibit the birth of the mind, according to the U. Frith Theory. We report in this paper the psychoanalytic, cognitive, systemic, biological viewpoint on the occurrence of depression in infantile autism. We submit three cases of patients being treated in our service with the cognitive-behavioural oriented educational program and pharmacological therapy and discuss the multidimensional approach. The temporary occurrence of depression symptoms may be an index of a change within the resisting autistic balance, which may have a biological basis, but indicates the disorganization of the autistic child's mind in view of further development. PMID:9064496

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

    PubMed Central

    Kashou, Nasser H.; Zampini, Angelica R.

    2015-01-01

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

  2. Infantile hypertrophic pyloric stenosis--genetics and syndromes.

    PubMed

    Peeters, Babette; Benninga, Marc A; Hennekam, Raoul C M

    2012-11-01

    Infantile hypertrophic pyloric stenosis (IHPS) is a common condition in neonates that is characterized by an acquired narrowing of the pylorus. The aetiology of isolated IHPS is still largely unknown. Classic genetic studies have demonstrated an increased risk in families of affected infants. Several genetic studies in groups of individuals with isolated IHPS have identified chromosomal regions linked to the condition; however, these associations could usually not be confirmed in subsequent cohorts, suggesting considerable genetic heterogeneity. IHPS is associated with many clinical syndromes that have known causative mutations. Patients with syndromes associated with IHPS can be considered as having an extreme phenotype of IHPS and studying these patients will be instrumental in finding causes of isolated IHPS. Possible pathways in syndromic IHPS include: (neuro)muscular disorders; connective tissue disorders; metabolic disorders; intracellular signalling pathway disturbances; intercellular communication disturbances; ciliopathies; DNA-repair disturbances; transcription regulation disorders; MAPK-pathway disturbances; lymphatic abnormalities; and environmental factors. Future research should focus on linkage analysis and next-generation molecular techniques in well-defined families with multiple affected members. Studies will have an increased chance of success if detailed phenotyping is applied and if knowledge about the various possible causative pathways is used in evaluating results. PMID:22777173

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

    PubMed

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

    2010-12-01

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

  4. Infantile hemangiomas exhibit neural crest and pericyte markers.

    PubMed

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

    2015-02-01

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

  5. Infantile seborrheic dermatitis: a pediatric Siddha medicine treatise.

    PubMed

    Thambyayah, Malinee; Amuthan, Arul

    2015-01-01

    Siddha medicine is one of the oldest (5000 years old) well-documented Indian traditional medicines, compared with Ayurveda, Unani, and traditional Chinese medicine, by way of keen observation and experimentation. It mentions 108 diseases that occur in childhood, which are further classified and described into various subtypes based on the clinical features and different stages of a particular disease. The authors translate the elegant and detailed description of one neonatal disorder, infantile seborrheic dermatitis (cradle cap), called kabaala kuttam (KK), described in 17 stanzas of four lines for each stanza from Tamil language script into English. There are five different types of cradle cap, including white type, dark black type, red type, weeping type, and toxic type. Four polyherbal formulations are described for external and oral administration, in which there is mention of 39 herbals and pure sulfur as ingredients. The safety and efficacy of these herbal products varies and has not been fully explored in infants, but may represent options for clinical development. PMID:25889138

  6. Infantile zinc deficiency: association with autism spectrum disorders.

    PubMed

    Yasuda, Hiroshi; Yoshida, Kazuya; Yasuda, Yuichi; Tsutsui, Toyoharu

    2011-01-01

    Elucidation of the pathogenesis and effective treatment of autism spectrum disorders is one of the challenges today. In this study, we examine hair zinc concentrations for 1,967 children with autistic disorders (1,553 males and 414 females), and show considerable association with zinc deficiency. Histogram of hair zinc concentration was non-symmetric with tailing in lower range, and 584 subjects were found to have lower zinc concentrations than -2 standard deviation level of its reference range (86.3-193 ppm). The incidence rate of zinc deficiency in infant group aged 0-3 year-old was estimated 43.5 % in male and 52.5 % in female. The lowest zinc concentration of 10.7 ppm was detected in a 2-year-old boy, corresponding to about 1/12 of the control mean level. These findings suggest that infantile zinc deficiency may epigenetically contribute to the pathogenesis of autism and nutritional approach may yield a novel hope for its treatment and prevention. PMID:22355646

  7. Infantile zinc deficiency: Association with autism spectrum disorders

    PubMed Central

    Yasuda, Hiroshi; Yoshida, Kazuya; Yasuda, Yuichi; Tsutsui, Toyoharu

    2011-01-01

    Elucidation of the pathogenesis and effective treatment of autism spectrum disorders is one of the challenges today. In this study, we examine hair zinc concentrations for 1,967 children with autistic disorders (1,553 males and 414 females), and show considerable association with zinc deficiency. Histogram of hair zinc concentration was non-symmetric with tailing in lower range, and 584 subjects were found to have lower zinc concentrations than −2 standard deviation level of its reference range (86.3–193ppm). The incidence rate of zinc deficiency in infant group aged 0–3 year-old was estimated 43.5 % in male and 52.5 % in female. The lowest zinc concentration of 10.7 ppm was detected in a 2-year-old boy, corresponding to about 1/12 of the control mean level. These findings suggest that infantile zinc deficiency may epigenetically contribute to the pathogenesis of autism and nutritional approach may yield a novel hope for its treatment and prevention. PMID:22355646

  8. Efficacious Healing of Ulcerated Infantile Hemangiomas Using Topical Timolol

    PubMed Central

    Chang, Chun-Shin

    2016-01-01

    Summary: Infantile hemangiomas (IHs) are the most common benign pediatric soft-tissue tumors. Ulceration—the most frequent complication of IH—tends to heal poorly and is associated with pain, bleeding, infection, and scarring. Mainstay treatment modalities include propranolol (β-blocker) and corticosteroids, whose effectiveness is countered by a need for long-term medication and risk of systemic adverse effects and ulcer recurrence. A 3-month-old infant presented to us with a large, medial thigh-ulcerated IH that progressed despite 2 prior months of dressings and topical antimicrobials. Topical timolol 0.5% thrice daily was initiated, and significant healing was evident at 1 week, with complete healing at 1 month. Timolol was stopped after 3 months, and at 18 months after cessation of timolol, there was no ulcer recurrence. This novel therapy for ulcerated IH seems to have many advantages such as rapid efficacy with easy application, no systemic adverse effects and no long-term recurrence, and current literature describing similar advantages justifies the use of this treatment modality in infants. PMID:27014550

  9. Neurodevelopmental outcomes in children with Down syndrome and infantile spasms

    PubMed Central

    Tapp, Sarah; Anderson, Tovi; Visootsak, Jeannie

    2015-01-01

    Down syndrome (DS) is the most common genetic cause of intellectual disability in the United States. The prevalence of seizure in individuals with DS is 1–13%, and infantile spasm (IS) occurs in 6–32% of those with seizures. Since IS is relatively common in children with DS, it is important to understand the impact IS has on the neurodevelopmental outcomes in order to provide appropriate anticipatory guidance to help maximize the potential of these children. Our study is the first to compare the neurodevelopmental outcomes of children with DS and IS (DS + IS) to children with DS and no history of seizures (DS ? IS). Using the Bayley Scales of Infant and Toddler Development III, we assessed the neurodevelopment of 29 subjects (eight DS + IS and 21 DS ? IS). Neurodevelopmental outcome was poor in the DS + IS cohort, but the delay in treatment does not appear to contribute to any differences in their developmental scores. However, when compared to children with DS ? IS, the DS + IS cohort scored approximately 20 points less in all domains including cognitive, motor, and language (P < 0.05). Our results indicate that IS may impact the neurodevelopmental outcomes of children with DS + IS; thus, it is important to provide ongoing developmental and educational assessments and potentially additional therapies for children with DS + IS. PMID:26523121

  10. Incidence and treatment of infantile haemangioma in preterm infants.

    PubMed

    Goelz, Rangmar; Poets, Christian F

    2015-01-01

    Infantile haemangioma (IH) are vascular tumours with a unique growth dynamic, mostly absent at birth, growth in the first months followed by involution over several years, often resulting in residual skin changes. Immune-histologically, IH cells are exclusively glucose transporter protein-1 positive.The incidence of IH is increasing with decreasing gestational age, from 1-4% in term infants to 23% in those of <1000?g birth weight, with a female and Caucasian predominance. Discovery of systemic and topical beta blockers as an effective treatment option resulted in a rapid shift away from systemic steroids towards these drugs. For preterm infants, however, data on efficacy, pharmacokinetics and long-term safety are sparse or absent. Topical treatment without systemic side effects like cryotherapy may thus be an attractive alternative at an early growth stage (<10?mm). Indications for treatment with beta blockers, mostly propranolol systemically and timolol maleat 0.5% topically, are currently extrapolated from studies in older infants. Both seem effective, but adverse effects on sleep, circulation and metabolism are well described for propranolol. Long-term outcome data for either drug are missing. In conclusion, evidence on optimal IH treatment in preterms is lacking despite their high incidence; pharmacokinetic and clinical studies are warranted. PMID:25352093

  11. Infantile onset diabetes mellitus in developing countries - India

    PubMed Central

    Varadarajan, Poovazhagi

    2016-01-01

    Infantile onset diabetes mellitus (IODM) is an uncommon metabolic disorder in children. Infants with onset of diabetes mellitus (DM) at age less than one year are likely to have transient or permanent neonatal DM or rarely type 1 diabetes. Diabetes with onset below 6 mo is a heterogeneous disease caused by single gene mutations. Literature on IODM is scanty in India. Nearly 83% of IODM cases present with diabetic keto acidosis at the onset. Missed diagnosis was common in infants with diabetes (67%). Potassium channel mutation with sulphonylurea responsiveness is the common type in the non-syndromic IODM and Wolcott Rallison syndrome is the common type in syndromic diabetes. Developmental delay and seizures were the associated co-morbid states. Genetic diagnosis has made a phenomenal change in the management of IODM. Switching from subcutaneous insulin to oral hypoglycemic drugs is a major clinical breakthrough in the management of certain types of monogenic diabetes. Mortality in neonatal diabetes is 32.5% during follow-up from Indian studies. This article is a review of neonatal diabetes and available literature on IODM from India.

  12. Contribution of Embodiment to Solving the Riddle of Infantile Amnesia.

    PubMed

    Glenberg, Arthur M; Hayes, Justin

    2016-01-01

    At least since the late nineteenth century, researchers have sought an explanation for infantile amnesia (IA)-the lack of autobiographical memories dating from early childhood-and childhood amnesia (CA), faster forgetting of events up until the age of about seven. Evidence suggests that IA occurs across altricial species, and a number of studies using animal models have converged on the hypothesis that maturation of the hippocampus is an important factor. But why does the hippocampus mature at one time and not another, and how does that maturation relate to memory? Our hypothesis is rooted in theories of embodied cognition, and it provides an explanation both for hippocampal development and the end of IA. Specifically, the onset of locomotion prompts the alignment of hippocampal place cells and grid cells to the environment, which in turn facilitates the ontogeny of long-term episodic memory and the end of IA. That is, because the animal can now reliably discriminate locations, location becomes a stable cue for memories. Furthermore, as the mode of human locomotion shifts from crawling to walking, there is an additional shift in the alignment of the hippocampus that marks the beginning of adult-like episodic memory and the end of CA. Finally, given a reduction in self-locomotion and exploration with aging, the hypothesis suggests a partial explanation for cognitive decline with aging. PMID:26834683

  13. Clonal genomic alterations in glioma malignancy stages.

    PubMed

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

    1988-10-01

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

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

    PubMed Central

    Melchior, J C

    1977-01-01

    113 cases of infantile spasms were diagnosed in the period 1 April 1970 to 31 March 1975 after Denmark changed her immunization programme. Previously whooping cough vaccine was given as the triple combination at 5, 6, and 15 months of age. From 1 April 1970 it was given as a monovalent vaccine at 5 and 9 weeks of age and at 10 months of age. A comparison with previous material of 86 cases of infantile spasms from 1957 to 1967 showed no change in the age at onset. Though there may be an occasional connection between immunization and infantile spasms, the most important factor is a time-coincidence between any immunization given at a certain age with the neurological disorders which are natural for that age. PMID:836065

  15. Qat Chewing and Risk of Potentially Malignant and Malignant Oral Disorders: A Systematic Review.

    TOXLINE Toxicology Bibliographic Information

    El-Zaemey S; Schüz J; Leon ME

    2015-07-01

    BACKGROUND: Qat (also known as Khat, Kat and Miraa) is a green-leaved plant (Catha edulis). It is a shrub indigenous to Yemen and certain parts of eastern Africa. Chewing the leaves, which have sympathomimetic and euphoric effects, has been documented in many countries and increased with worldwide migration. The effect of long-term chewing Qat on the oral cavity is unknown.OBJECTIVE: A systematic review was performed to identify any associations between Qat chewing and the occurrence of potentially malignant and malignant oral disorders.METHODS: Medline and the Web of Science were searched for articles published before May 2014 without limits with regard to publication date and language.RESULTS: From a total of 890 papers identified, 17 English papers reported potentially malignant or malignant oral disorders and Qat chewing. One additional paper in Arabic language was identified from reviewing the list of references of eligible papers. It was found that exposure to Qat may be associated with potentially malignant and malignant oral disorders, but methodological issues, such as inadequate study design, sample size, selection of study subjects, clinical evaluations of outcome and limited adjustment for confounders, limit the strength of the evidence base in this area.CONCLUSION: The association between Qat chewing and potentially malignant and malignant oral disorders remains debatable and requires further investigations.

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

    ClinicalTrials.gov

    2015-11-12

    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

  17. A Pulse Rapamycin Therapy for Infantile Spasms and Associated Cognitive Decline

    PubMed Central

    Raffo, Emmanuel; Coppola, Antonietta; Ono, Tomonori; Briggs, Stephen W.; Galanopoulou, Aristea S.

    2011-01-01

    Infantile spasms are seizures manifesting within a spectrum of epileptic encephalopathies of infancy that often lead to cognitive impairment. Their current therapies, including adrenocorticotropic hormone (ACTH), high dose steroids, or vigabatrin, are not always effective and may be associated with serious side effects. Overactivation of the TORC1 complex of the mTOR pathway is implicated in the pathogenesis of certain genetic and acquired disorders that are linked with infantile spasms, like tuberous sclerosis. Here, we tested the therapeutic potential of rapamycin, a TORC1 inhibitor, as a potential treatment for infantile spasms in the multiple-hit rat model of ACTH-refractory symptomatic infantile spasms, which is not linked to tuberous sclerosis. Rapamycin or vehicle were given after spasms appeared. Their effects on spasms, other seizures, performance in Barnes maze, and expression of the phosphorylated S6 ribosomal protein (pS6: a TORC1 target) in the cortex, using immunofluorescence, were compared. Rapamycin suppressed spasms dose-dependently and improved visuospatial learning, although it did not reduce the frequency of other emerging seizures. High-dose pulse rapamycin effected acute and sustained suppression of spasms and improved cognitive outcome, without significant side effects. Therapeutically effective rapamycin doses normalized the pS6 expression, which was increased in perilesional cortical regions of pups with spasms. These findings support that pathological overactivation of TORC1 may be implicated in the pathogenesis of infantile spasms, including those that are not linked to tuberous sclerosis. Furthermore, a high-dose, pulse rapamycin treatment is a promising, well tolerated and disease-modifying new therapy for infantile spasms, including those refractory to ACTH. PMID:21504792

  18. Neurofibromatosis type 1 and malignancy in childhood.

    PubMed

    Varan, A; ?en, H; Ayd?n, B; Yalç?n, B; Kutluk, T; Akyüz, C

    2016-03-01

    Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary neurocutaneous syndrome characterized by multi-system involvement and an increased incidence of both benign and malignant tumors. In this study, we evaluated the clinical presentation and prognosis of NF1 and malignancy. Between 1975 and 2013, 26 (5%) of the 473 patients with NF1 at our center developed non-neurofibroma neoplasms. The patient files of 26 subjects with tumors, other than optic glioma, were analyzed retrospectively to evaluate clinical features and treatment results. The age at diagnosis of NF1 ranged from 3 months to 16 years (median 5.5 years). The age range at tumor diagnosis was 1.5-33 years (median 8 years) in these 26 patients. The tumor histological subtypes included the following: 12 soft-tissue tumors (6 malignant peripheral nerve sheath tumors (MPNST), 5 rhabdomyosarcomas (RMS) and 1 malignant fibrous histiocytoma), 11 brain tumors (6 low-grade gliomas, 3 high-grade gliomas, and 2 medulloblastoma), 2 neuroblastomas and 1 non-Hodgkin's lymphoma. Twelve of 26 patients were alive at the time of the study. Although benign brain tumors with NF1 are more common, high-grade brain tumors also occur. Thus, careful and regular follow-up is crucial for early detection of malignancy in NF1 patients. PMID:26073032

  19. Sirtuins in Hematological Aging and Malignancy

    PubMed Central

    Roth, Mendel; Wang, Zhiqiang; Chen, WenYong

    2014-01-01

    Aging of the hematological system causes anemia, reduced immunity, and increased incidence of hematological malignancies. Hematopoietic stem cells (HSCs) play a crucial role in this process as their functions decline during aging. Sirtuins are a family of protein lysine modifying enzymes that have diverse roles in regulating metabolism, genome stability, cell proliferation, and survival, and have been implicated in mammalian aging and longevity. Here we provide an updated overview of sirtuins in aging research; particularly, how increased activity of SIRT1, SIRT3, or SIRT6 improves several aging parameters, and may possibly increase lifespan in mice. We review the literature on how sirtuins may play a role in HSC aging and hematological malignancies, and how key signaling pathways of HSCs may be affected by sirtuins. Among them, SIRT1 plays a critical role in chronic myelogenous leukemia, an age-dependent malignancy, and inhibition of SIRT1 sensitizes leukemic stem cells to tyrosine kinase inhibitor treatment and blocks acquisition of resistant oncogene mutations. In-depth understanding of sirtuins in HSC aging and malignancy may help design novel strategies to deter hematological aging and improve treatment of hematological malignancies. PMID:24579733

  20. Increased incidence of malignancy in dermatitis herpetiformis.

    PubMed Central

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

    1983-01-01

    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 malignancies small-intestinal biopsy specimens were macroscopically abnormal, giving a relative risk of 4.22 in this group, which is similar to that reported in adult coeliac disease. Patients treated with a gluten-free diet appeared to have a reduced risk of developing malignancy compared with those taking a normal diet (relative risk with gluten-free diet 1.01 and with normal diet 3.09). A small subgroup of eight patients with linear IgA dermatitis herpetiformis were also studied: three developed malignant disease and in one the tumour was a lymphoma. PMID:6401441

  1. Secondary Malignancy Risk Following Proton Radiation Therapy

    PubMed Central

    Eaton, Bree R.; MacDonald, Shannon M.; Yock, Torunn I.; Tarbell, Nancy J.

    2015-01-01

    Radiation-induced secondary malignancies are a significant, yet uncommon cause of morbidity and mortality among cancer survivors. Secondary malignancy risk is dependent upon multiple factors including patient age, the biological and genetic predisposition of the individual, the volume and location of tissue irradiated, and the dose of radiation received. Proton therapy (PRT) is an advanced particle therapy with unique dosimetric properties resulting in reduced entrance dose and minimal to no exit dose when compared with standard photon radiation therapy. Multiple dosimetric studies in varying cancer subtypes have demonstrated that PRT enables the delivery of adequate target volume coverage with reduced integral dose delivered to surrounding tissues, and modeling studies taking into account dosimetry and radiation cell biology have estimated a significantly reduced risk of radiation-induced secondary malignancy with PRT. Clinical data are emerging supporting the lower incidence of secondary malignancies after PRT compared with historical photon data, though longer follow-up in proton treated cohorts is awaited. This article reviews the current dosimetric and clinical literature evaluating the incidence of and risk factors associated with radiation-induced secondary malignancy following PRT. PMID:26636040

  2. Malignancies in bullous pemphigoid: A controversial association.

    PubMed

    Balestri, Riccardo; Magnano, Michela; La Placa, Michelangelo; Patrizi, Annalisa; Angileri, Luisa; Tengattini, Vera; Bardazzi, Federico

    2016-02-01

    Bullous pemphigoid (BP) is an autoimmune subepidermal blistering disorder that has been reported to be associated with malignancies. Some authors described several cases of pemphigoid associated with malignancies (PAM); however, the evidence of this correlation still remains controversial. Several theories have been postulated to explain the relationship between malignant neoplasms and BP; the main theory suggests that antibodies directed against tumor-specific antigens of malignant cells may cross-react with antigens (like BP antigens) in the basement membrane zone leading to the formation of blisters. We performed an extensive review of the English published work focusing on the epidemiology, the pathogenetic theories and the clinical and histological aspects of the disease. We identified 40 cases of PAM: of these, seven cases were associated with hematological malignancies and 33 with solid tumors. Physicians should be aware of the existence of PAM and we suggest an oncological screening in early-onset pemphigoid, in patients with a former oncological history, in those with signs and symptoms that could be related to a neoplasm and in BP refractory to common immunosuppressive therapy. PMID:26435381

  3. Malignant mesenterial mesothelioma in stroke patients.

    PubMed

    Budiyasa, Dewa Gde Agung; Wibawa, I Dewa Nyoman

    2008-10-01

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

  4. Pleuroperitoneal shunt for recurrent malignant pleural effusions.

    PubMed Central

    Tsang, V; Fernando, H C; Goldstraw, P

    1990-01-01

    The therapeutic options available for the management of malignant pleural effusions associated with a restricting malignant cortex remain unsatisfactory. The efficacy of pleuroperitoneal shunts was evaluated in 16 patients with recurrent malignant effusions. There were no operative deaths; one patient died on the third postoperative day as a result of lymphangitis carcinomatosa. The median hospital stay was five (range 3-21) days. Palliation was obtained in all but one of the other 15 patients. There was no appreciable reaccumulation of pleural fluid as judged by radiography. Two patients developed occlusion of the shunt. In one case this was due to blood clots in the pleural catheter and necessitated insertion of a new shunt. The other shunt was removed because of obstructing infected fibrin debris, and a rib resection was performed. There were eight deaths related to the underlying malignancy after a mean interval of 7.3 (range 1.5-23) months. The other six patients are still alive, with a mean survival of 11.0 (range 5-20) months, and have achieved good symptomatic relief. The insertion of a pleuroperitoneal shunt can offer effective palliation for patients with recurrent malignant pleural effusions. Images PMID:1696401

  5. Cancer stem cells and human malignant melanoma

    PubMed Central

    Schatton, Tobias; Frank, Markus H

    2010-01-01

    Summary Cancer stem cells (CSC) have been identified in hematological malignancies and several solid cancers. Similar to physiological stem cells, CSC are capable of self-renewal and differentiation and have the potential for indefinite proliferation, a function through which they may cause tumor growth. Although conventional anti-cancer treatments might eradicate most malignant cells in a tumor, they are potentially ineffective against chemoresistant CSC, which may ultimately be responsible for recurrence and progression. Human malignant melanoma is a highly aggressive and drug-resistant cancer. Detection of tumor heterogeneity, undifferentiated molecular signatures, and increased tumorigenicity of melanoma subsets with embryonic-like differentiation plasticity strongly suggest the presence and involvement of malignant melanoma stem cells (MMSC) in the initiation and propagation of this malignancy. Here, we review these findings in the context of functional properties ascribed to melanocyte stem cells and CSC in other cancers. We discuss the association of deregulated signaling pathways, genomic instability, and vasculogenic mimicry phenomena observed in melanoma subpopulations in light of the CSC concept. We propose that a subset of MMSC may be responsible for melanoma therapy-resistance, tumor invasiveness, and neoplastic progression and that targeted abrogation of a MMSC compartment could therefore ultimately lead to stable remissions and perhaps cures of metastatic melanoma. PMID:18353142

  6. Cancer stem cells and human malignant melanoma.

    PubMed

    Schatton, Tobias; Frank, Markus H

    2008-02-01

    Cancer stem cells (CSC) have been identified in hematological malignancies and several solid cancers. Similar to physiological stem cells, CSC are capable of self-renewal and differentiation and have the potential for indefinite proliferation, a function through which they may cause tumor growth. Although conventional anti-cancer treatments might eradicate most malignant cells in a tumor, they are potentially ineffective against chemoresistant CSC, which may ultimately be responsible for recurrence and progression. Human malignant melanoma is a highly aggressive and drug-resistant cancer. Detection of tumor heterogeneity, undifferentiated molecular signatures, and increased tumorigenicity of melanoma subsets with embryonic-like differentiation plasticity strongly suggest the presence and involvement of malignant melanoma stem cells (MMSC) in the initiation and propagation of this malignancy. Here, we review these findings in the context of functional properties ascribed to melanocyte stem cells and CSC in other cancers. We discuss the association of deregulated signaling pathways, genomic instability, and vasculogenic mimicry phenomena observed in melanoma subpopulations in light of the CSC concept. We propose that a subset of MMSC may be responsible for melanoma therapy-resistance, tumor invasiveness, and neoplastic progression and that targeted abrogation of a MMSC compartment could therefore ultimately lead to stable remissions and perhaps cures of metastatic melanoma. PMID:18353142

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

    PubMed Central

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

    2008-01-01

    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

  8. Infantile Hypertrophic Pyloric Stenosis in Postoperative Esophageal Atresia with Tracheoesophageal Fistula

    PubMed Central

    R A A, Hassan; Y U, Choo; R, Noraida; I, Rosida

    2015-01-01

    Development of infantile hypertrophic pyloric stenosis during postoperative period in EA with TEF is rare. Postoperative vomiting or feeding intolerance in EA is more common which is due to esophageal stricture, gastroesophageal reflux and esophageal dysmotility. A typical case of IHPS also presents with non-bilious projectile vomiting at around 3-4 weeks of life. The diagnosis of infantile hypertrophic pyloric stenosis in this subset is usually delayed because of its rarity. We report a case of IHPS in postoperative EA and emphasize on high index of suspicion to avoid any delay in diagnosis with its metabolic consequences. PMID:26290814

  9. Infantile Hypertrophic Pyloric Stenosis in Postoperative Esophageal Atresia with Tracheoesophageal Fistula.

    PubMed

    R A A, Hassan; Y U, Choo; R, Noraida; I, Rosida

    2015-01-01

    Development of infantile hypertrophic pyloric stenosis during postoperative period in EA with TEF is rare. Postoperative vomiting or feeding intolerance in EA is more common which is due to esophageal stricture, gastroesophageal reflux and esophageal dysmotility. A typical case of IHPS also presents with non-bilious projectile vomiting at around 3-4 weeks of life. The diagnosis of infantile hypertrophic pyloric stenosis in this subset is usually delayed because of its rarity. We report a case of IHPS in postoperative EA and emphasize on high index of suspicion to avoid any delay in diagnosis with its metabolic consequences. PMID:26290814

  10. Sequential sup 123 I-IMP-SPECT in acute infantile hemiplegia

    SciTech Connect

    Shirasaka, Y.; Ito, M.; Okuno, T.; Fujii, T.; Mikawa, H. )

    1989-09-01

    Sequential {sup 123}I-N-isopropyl-p-iodoamphetamine (IMP) single-photon emission computed tomography (SPECT) was performed in 2 patients with acute infantile hemiplegia. In both patients, low uptake of IMP was detected in the targeted abnormal hemisphere. The {sup 123}I-IMP-SPECT findings indicative of a pathologic condition persisted even when the clinical findings and electroencephalographic abnormalities improved. Because of its sensitivity, noninvasiveness, and accurate reflection of the cerebral blood flow distribution, {sup 123}I-IMP-SPECT is useful in the examination of acute infantile hemiplegia and in the evaluation of prognosis.

  11. Pathophysiology of Massive Infantile Spasms: Perspective on the Putative Role of the Brain Adrenal Axis

    PubMed Central

    Baram, Tallie Z.

    2013-01-01

    Massive infantile spasms are an age-specific seizure syndrome of infancy. Uniquely, the spasms respond to hormonal manipulation using adrenocorticotropic hormone (ACTH) or glucocorticoids. A hypothesis explaining the efficacy of hormonal therapy, age-specificity, multiple causative factors, and spontaneous resolution of infantile spasms is presented. Corticotropin-releasing hormone (CRH), an excitant neuropeptide suppressed by ACTH/steroids, is implicated. Evidence for the age-specific convulsant properties of CRH is presented, and a putative scenario in which a stressinduced enhancement of endogenous CRH-mediated seizures is discussed. Clinical testing of the CRH-excess theory and its therapeutic implications are suggested. PMID:8388675

  12. Vigabatrin-induced MRI changes associated with extrapyramidal symptoms in a child with infantile spasms.

    PubMed

    Schonstedt, Valeria; Stecher, Ximena; Venegas, Viviana; Silva, Claudio

    2015-10-01

    Vigabatrin is an antiepileptic drug used for treatment of infantile spasms. We present a female patient with infantile spasms in treatment with vigabatrin who developed ataxic movements. MRI demonstrated a symmetrical pattern of thalamic and globi pallidi diffusion restriction. While these image features have been widely described to be related to the use of vigabatrin, this case highlights the development of movement disorders in association with MRI signal changes. Awareness of the reversible nature of this condition is reassuring for the treating team and avoids unjustified studies. PMID:26306928

  13. Propranolol Targets Contractility of Infantile Hemangioma-derived Pericytes

    PubMed Central

    Lee, D.; Boscolo, E.; Durham, J.T.; Mulliken, J.B.; Herman, I.M.; Bischoff, J.

    2014-01-01

    Propranolol, a ?-adrenergic receptor (AR) antagonist, was discovered serendipitously to be an effective treatment for endangering infantile hemangioma (IH). Dramatic fading of cutaneous color is often seen a short time after initiating propranolol therapy, with accelerated regression of IH blood vessels discerned after weeks to months. Here we focus on hemangioma-derived pericytes (HemPericytes) isolated from proliferating and involuting phase tumors to assess a possible role for these cells in the apparent propranolol-induced vasoconstriction. HemPericytes express high levels of ?2 AR mRNA, compared to positive control bladder smooth muscle cells. In addition, ?2 AR mRNA levels were relatively high in IH specimens (n=15) compared to ?1 AR, ?3 AR and ?1bAR. HemPericytes were assayed for contractility on a deformable silicone substrate: propranolol (10?M) restored basal contractile levels in HemPericytes that were relaxed with the AR agonist epinephrine. siRNA knockdown ?2 AR blunted this response. Normal human retinal and placental pericytes were not affected by epinephrine or propranolol in this assay. Propranolol (10?M) inhibited proliferation of HemPericytes in vitro, as well as normal pericytes, indicating a non-selective effect in this assay. HemPericytes and HemEC were co-implanted subcutaneously in nude mice to form blood vessels, and at day 7 after injection, mice were randomized into vehicle and propranolol treated groups. Contrast-enhanced micro-ultrasonography of the implants after 7 days of treatment showed significantly decreased vascular volume in propranolol-treated animals, but no reduction in vehicle-treated animals. These findings suggest that the mechanism of propranolol's effect on proliferating IH involves increased pericytic contractility. PMID:24720697

  14. Visual Acuity Development of Children with Infantile Nystagmus Syndrome

    PubMed Central

    Bilonick, Richard A.; Felius, Joost; Hertle, Richard W.; Birch, Eileen E.

    2011-01-01

    Purpose. Infantile nystagmus syndrome (INS) can be idiopathic or associated with ocular or systemic disease. The ocular oscillation of INS directly contributes to loss of visual acuity. In this study, visual acuity development in patients with INS was examined. Methods. Children with INS were classified as having idiopathic INS (n = 84) or INS with an associated sensory deficit: INS and albinism (n = 71), bilateral optic nerve hypoplasia (ONH; n = 23), or congenital retinal disorder (n = 36). Visual acuity was assessed with Teller cards and/or optotypes, and the data were analyzed for three age groups (<24 months, 24–48 months, and >48 months). Results. Patients with idiopathic INS showed mildly reduced visual acuity early in life and gradual maturation with age that paralleled a normative curve. Patients with albinism also showed a mild visual deficit early in life but failed to keep pace with the normative curve, showing a gradual increase in visual acuity deficit. Patients with ONH and congenital retinal disorders exhibited more severe visual acuity deficits during infancy. The ONH group displayed slow improvement of visual acuity with a plateau at 24 months through >48 months, with a small increase in visual acuity deficit. The congenital retinal disorder group had no significant change in visual acuity across age and had a rapid increase in visual acuity deficit. Conclusions. The pattern of visual acuity development differs among children with INS, depending on the presence or absence of associated sensory system deficits. Careful characterization of visual system differences in patients with INS is important if visual acuity is an outcome in clinical trials. PMID:21071734

  15. A Retrospective Study to Classify Surgical Indications for Infantile Hemangiomas

    PubMed Central

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

    2014-01-01

    Summary Infantile hemangiomas (IHs) spontaneously involute, but some leave contour deformities necessitating surgical correction. There is a paucity of data reviewing predictive risk factors associated with a need for surgery to guide clinicians when counseling parents. Patients undergoing IH resection by a single surgeon from August 2004 to August 2011 were reviewed to determine patient (age, gender, birth history) and IH characteristics (size, location) associated with surgical intervention. Data were compared to published data from the Hemangioma Investigator Group (HIG). Statistical analysis was performed using Student's t-test, odds ratio, and logistic regression analysis. Out of 196 referred patients, 112 underwent surgery. There was a female preponderance (3.5:1). Two-thirds of patients (64.9%) first presented to the surgeon at <2 years of age, but most underwent surgery between 2-3 years (52.7%; average lag time, 11 months). 18 patients underwent surgery at <1 year of age. IH patients with preterm birth history had increased risk for needing surgical intervention (odds ratio 2.124, CI 1.31-3.44; p<0.0012). A majority (84.7%) of resected IHs were located on the head or neck, significantly higher than the distribution from the HIG data (62.2%; p<0.0001). Resected head and neck IHs were smaller than those below the neck (average, 8.85cm2 vs. 22.35 cm2, p=0.017). Preterm birth is associated with higher risk for requiring surgical intervention. IHs on the head and neck are more likely to be removed when compared to those below the neck, and at a smaller size threshold. PMID:24923525

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

    PubMed

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

    2014-11-23

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

  17. Vigabatrin retinal toxicity in children with infantile spasms

    PubMed Central

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

    2014-01-01

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

  18. Contrast Sensitivity Is Reduced in Children with Infantile Spasms

    PubMed Central

    Mirabella, Giuseppe; Morong, Sharon; Buncic, J. Raymond; Snead, O. Carter; Logan, William J.; Weiss, Shelly K.; Abdolell, Mohamed; Westall, Carol A.

    2013-01-01

    Purpose To investigate whether visual deficits in children with infantile spasm (IS) are the result of seizure activity or of treatment with the anticonvulsant drug vigabatrin (VGB). Methods Vision function was determined in three experiments by determining peak contrast sensitivity (CS) and grating acuity (GA) with the sweep visual evoked potential. Cross-sectional study A: 34 children, including 11 patients with childhood epilepsy with exposure to VGB for at least 6 months, 10 with childhood epilepsy exposed to antiepileptic drugs other than VGB, and 13 normally developing children. Cross-sectional study B: 32 children, including 16 with IS naïve to VGB and 16 normally developing children. Longitudinal study: seven children with IS naïve to VGB, with subsequent follow-up 5 to 10 months after starting VGB. Results In cross-sectional study A, the median CS was reduced by 0.5 log units (P = 0.025) in children with epilepsy exposed to VGB compared with those exposed to other antiepileptic drugs and normally developing children. In cross-sectional study B, the median CS was reduced by 0.25 log units (P = 0.0015) in children with IS (VGB naïve) compared with normally developing children. Longitudinal assessment showed no decrease in CS in children with IS who were followed up 5 to 10 months after starting VGB. There was no difference in GA among groups in any of the experiments. Conclusions Patients with IS have CS deficits, but a sparing of GA. This deficit is present before VGB treatment and does not worsen with treatment onset. Results suggest that visual dysfunction is largely the result of the seizures themselves. PMID:17652730

  19. Percutaneous Management of Malignant Biliary Obstruction.

    PubMed

    Sutter, Christopher M; Ryu, Robert K

    2015-12-01

    Malignancy resulting in impaired biliary drainage includes a number of diagnoses familiar to the interventional radiologist. Adequate drainage of such a system can significantly improve patient quality of life, and can facilitate the further treatment options and care of such patients. In the setting of prior instrumentation, cholangitis can present as an urgent indication for drainage. Current initial interventional management of malignant biliary duct obstruction frequently includes endoscopic or percutaneous intervention, with local practices and preprocedural imaging guiding interventional approaches and subsequent management. This article addresses the indications for percutaneous drainage, technical considerations in performing such drainage, and specific techniques useful in attempting to achieve clinical end points in patients with malignant biliary duct obstruction. PMID:26615162

  20. Malignant pilomatricoma in the parietal area.

    PubMed

    Kondo, Takeshi; Tanaka, Yoshio

    2006-01-01

    A 27-year-old Japanese woman presented with a 2.5-cm nodular subcutaneous lesion in the parietal area. The nodule was well demarcated and situated in the dermis and subcutis. Histologically, the tumor was diagnosed as malignant pilomatricoma. The tumor was excised, the postoperative course was uneventful, no evidence of local recurrence or distant metastasis was observed, and the patient continues to be under close follow-up. Malignant pilomatricoma, a locally aggressive counterpart of benign pilomatricoma, is also referred to as pilomatrix carcinoma. Most cases are excised as benign tumors; however, when the excision is incomplete local recurrence is likely, and distant metastases have also been reported. Histologically, the diagnosis can be challenging because no clear histologic criteria are available. Because of the rarity of malignant pilomatricoma, no welldefined standards in the surgical management of this neoplasm have been established. Moreover, since distant metastases have been described, close followup of the lesion is requisite. PMID:17189991

  1. [Surgery of rare malignant lung tumours].

    PubMed

    Biriukov, Iu V; Grigor'eva, S P; Abdumuradov, K A; Vishnevskaia, G A; Dobrovol'ski?, S R; Parshin, V D; Mamedov, F F

    2008-01-01

    4023 operations on account of primary bronchopulmonary cancer were performed in the period of 1963--2006 years. Rare malignant tumors (carcinoid, adenocystic cancer, sarcoma, large cell carcinoma etc.) were diagnosed in 379 (9,1%) cases. 275 patients of those had bronchpulmonary carcinoid; adenocystic cancer was diagnosed in 26 patients; 67 had various types of non-epithelial malignant tumors and 11 had a large cell carcinoma. All patients were operated on, morphological verification was obtained in all cases. The surgical tactics in patients with rare malignant tumours should be the same as for non-small cell lung--lobectomy of pneumonectomy with lyphadenectomy. The long term follow-up results witness the advisability of surgical treatment. PMID:18833180

  2. [Elderly patient with cerebellar malignant astrocytoma].

    PubMed

    Kawai, Hideya; Ishikawa, Tatsuya; Moroi, Junta; Hanyu, Noriaki; Sawada, Motofumi; Kobayashi, Norikata; Mutou, Tatsuji; Hikichi, Kentaro; Suzuki, Akifumi; Yasui, Nobuyuki; Yoshida, Yasuji

    2008-09-01

    Malignant cerebellar astrocytoma is very rare and the prognosis is extremely poor. We report herein the case of an elderly patient with malignant cerebellar astrocytoma. This 80-year-old man initially presented with dizziness and ataxia of the right hand. Metastatic cerebellar tumor was diagnosed on first admission, based on a past history of colon cancer treated by surgery and magnetic resonance imaging (MRI) findings supporting the diagnosis of metastasis. The patient underwent gamma knife surgery (20 Gy) and was discharged. Follow-up after discharge was insufficient. Two years after gamma knife surgery, he returned to our hospital complaining of dizziness, headache, and right limb ataxia. MRI revealed a cystic mass in the right cerebellar hemisphere, and the lesion was removed by right suboccipital craniotomy. The tumor represented malignant astrocytoma. Optimal management of patients harboring sush difficult. to-treat tumors, including the role of gamma-knife radiosurgery, is discussed. PMID:18800635

  3. Pretargeted Radioimmunotherapy for Hematologic and Other Malignancies

    PubMed Central

    Press, Oliver W.; Pagel, John M.

    2010-01-01

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

  4. [Malignant vascular tumors of the vulva].

    PubMed

    Chokoeva, A; Tchernev, G

    2015-01-01

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

  5. Endoscopic palliation of malignant biliary strictures

    PubMed Central

    Salgado, Sanjay M; Gaidhane, Monica; Kahaleh, Michel

    2016-01-01

    Malignant biliary strictures often present late after the window for curative resection has elapsed. In such patients, the goal of therapy is typically focused on palliation. While historically, palliative measures were performed surgically, the advent of endoscopic intervention offers minimally invasive options to provide relief of symptoms, improve quality of life, and in some cases, increase survival of these patients. Some of these therapies, such as endoscopic biliary decompression, have become mainstays of treatment for decades, whereas newer modalities, including radiofrequency ablation, and photodynamic therapy offer additional options for patients with incurable biliary malignancies. PMID:26989459

  6. Bilateral Metallic Stenting in Malignant Hilar Obstruction

    PubMed Central

    Moon, Jong Ho; Park, Sang-Heum

    2014-01-01

    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. PMID:25325005

  7. Is metastatic pancreatic cancer an untargetable malignancy?

    PubMed Central

    Kourie, Hampig Raphael; Gharios, Joseph; Elkarak, Fadi; Antoun, Joelle; Ghosn, Marwan

    2016-01-01

    Metastatic pancreatic cancer (MPC) is one of the most aggressive malignancies, known to be chemo-resistant and have been recently considered resistant to some targeted therapies (TT). Erlotinib combined to gemcitabine is the only targeted therapy that showed an overall survival benefit in MPC. New targets and therapeutic approaches, based on new-TT, are actually being evaluated in MPC going from immunotherapy, epigenetics, tumor suppressor gene and oncogenes to stromal matrix regulators. We aim in this paper to present the major causes rendering MPC an untargetable malignancy and to focus on the new therapeutic modalities based on TT in MPC. PMID:26989465

  8. Cutaneous Manifestations of Internal Malignant Disease

    PubMed Central

    McLean, David I.

    1987-01-01

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

  9. Renal malignancies with normal excretory urograms

    SciTech Connect

    Kass, D.A.; Hricak, H.; Davidson, A.J.

    1983-10-01

    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.

  10. Malignant Melanoma Arising in Red Tattoo Ink.

    PubMed

    Joyce, Cormac Weekes; Duff, Gerald; McKenna, Dermot; Regan, Padraic James

    2015-07-01

    We report the case of a 33-year-old male who presented with a malignant melanoma on his anterior chest wall. The lesion was only found in the red ink pigment of the tattoo, as were several in-transit dermal metastases. Possible explanations include a pre-existing lesion which was seeded with red ink or the possibility of the red ink causing an inflammatory reaction leading to malignant transformation. This is the first reported case of a melanoma developing in the red ink pigment of a multi-colored tattoo. PMID:26217569

  11. Octreotide in malignant chylothorax: a case report.

    PubMed

    Gupta, Ajay; Singh, Taranjit

    2016-03-01

    The treatment of malignancy-associated chylous pleural effusion and ascites, especially in the palliative setting, represents a major therapeutic challenge. Our patient, a case of metastatic lung cancer, was suffering from high-output, non-resolving, malignancy-related chylothorax. We found that subcutaneous octreotide in combination with fasting and total parenteral nutrition, followed later by institution of low-fat diet, resulted in its resolution. We suggest that it is a reasonable approach associated with minimal morbidity in what is otherwise a challenging clinical condition. PMID:26644224

  12. Is metastatic pancreatic cancer an untargetable malignancy?

    PubMed

    Kourie, Hampig Raphael; Gharios, Joseph; Elkarak, Fadi; Antoun, Joelle; Ghosn, Marwan

    2016-03-15

    Metastatic pancreatic cancer (MPC) is one of the most aggressive malignancies, known to be chemo-resistant and have been recently considered resistant to some targeted therapies (TT). Erlotinib combined to gemcitabine is the only targeted therapy that showed an overall survival benefit in MPC. New targets and therapeutic approaches, based on new-TT, are actually being evaluated in MPC going from immunotherapy, epigenetics, tumor suppressor gene and oncogenes to stromal matrix regulators. We aim in this paper to present the major causes rendering MPC an untargetable malignancy and to focus on the new therapeutic modalities based on TT in MPC. PMID:26989465

  13. Malignant Melanoma Arising in Red Tattoo Ink

    PubMed Central

    Duff, Gerald; McKenna, Dermot; Regan, Padraic James

    2015-01-01

    We report the case of a 33-year-old male who presented with a malignant melanoma on his anterior chest wall. The lesion was only found in the red ink pigment of the tattoo, as were several in-transit dermal metastases. Possible explanations include a pre-existing lesion which was seeded with red ink or the possibility of the red ink causing an inflammatory reaction leading to malignant transformation. This is the first reported case of a melanoma developing in the red ink pigment of a multi-colored tattoo. PMID:26217569

  14. Current Role of Genetics in Hematologic Malignancies.

    PubMed

    Prakash, Gaurav; Kaur, Anupriya; Malhotra, Pankaj; Khadwal, Alka; Sharma, Prashant; Suri, Vikas; Varma, Neelam; Varma, Subhash

    2016-03-01

    Rapidly changing field of genetic technology and its application in the management of hematological malignancies has brought significant improvement in treatment and outcome of these disorders. Today, genetics plays pivotal role in diagnosis and prognostication of most hematologic neoplasms. The utilization of genetic tests in deciding specific treatment of various hematologic malignancies as well as for evaluation of depth of treatment response is rapidly advancing. Therefore, it is imperative for practitioners working in the field of hemato-oncology to have sufficient understanding of the basic concepts of genetics in order to comprehend upcoming molecular research in this area and to translate the same for patient care. PMID:26855503

  15. [In vitro reconstruction of malignant melanoma].

    PubMed

    Lugassy, C; Escande, J P

    1987-01-01

    It is report here that three dimensional melanocytic tumors may be reconstituted when adding collagen to the cells harvested during the under covering lattice culture of malignant melanoma explants (cutaneous metastasis). The cells issued from these rebuilt malignant melanoma may be used following the same methods. Thus, the serial making of melanocytic tumors becomes possible. The problem of the relation between cellular differentiation and invasive potential of the cells may be studied using as an original model the rebuilt tumors and the cellular population which are issued from them. PMID:3121142

  16. Particulate Debris Osteolysis Simulating Malignant Tumor

    PubMed Central

    Brand, Richard A; Marsh, J Lawrence

    2004-01-01

    Osteolysis induced by particulate debris from total joint implants is typically confined to bone and benign in radiographic appearance even when extensive. However, they can extend well beyond bone in which case they can simulate malignancies owing either to mass effects and pressure on adjacent tissues or owing to the radiographic appearance. We report two cases which presented as possible malignancy, and review the literature on extensive osteolysis. Recognition of this possibility may aid in interpretation of the clinical presentation and imaging studies. PMID:15296216

  17. Pharmacological therapies for infantile hemangiomas: A clinical study in 853 consecutive patients using a standard treatment algorithm.

    PubMed

    Zhang, Ling; Yuan, Wei-En; Zheng, Jia-Wei

    2016-01-01

    Infantile hemangiomas are the most common infantile benign vascular tumor. While most infantile hemangiomas proliferate then involute, some may persist and require treatment for reasons including risk of disfigurement or functional impairment. Treatments currently include observation, pharmacological therapy, laser, cryosurgery, surgery and radiotherapy. Although pharmacological therapy is a well accepted treatment option, limited studies have evaluated the efficacy of different drug therapies. In this study, we compare different pharmacological modalities in the management of infantile hemangiomas. The study included 853 infants with proliferative infantile hemangiomas who were treated with topical timolol, oral propranolol, intralesional pingyangmycin, or intravenous vincristine from 2009 to 2012. Treatment stratification was based on clinical severity of the tumor. Response to the treatment was clinically evaluated and graded as: excellent, good, poor, or no response. Response to pharmacological therapies was excellent in almost all infantile hemangiomas. In addition, patients younger than 8 months responded highly to pharmacological treatment (89.1%), while patients older than 8 months were less responsive to treatment (36.3%). There were no instances of life-threatening complications. Overall, these findings support the efficacy of timolol, propranolol, pingyangmycin and vincristine in the treatment of infantile hemangiomas, especially in the youngest patient cohort (8 months or younger). PMID:26876800

  18. Pharmacological therapies for infantile hemangiomas: A clinical study in 853 consecutive patients using a standard treatment algorithm

    PubMed Central

    Zhang, Ling; Yuan, Wei-En; Zheng, Jia-Wei

    2016-01-01

    Infantile hemangiomas are the most common infantile benign vascular tumor. While most infantile hemangiomas proliferate then involute, some may persist and require treatment for reasons including risk of disfigurement or functional impairment. Treatments currently include observation, pharmacological therapy, laser, cryosurgery, surgery and radiotherapy. Although pharmacological therapy is a well accepted treatment option, limited studies have evaluated the efficacy of different drug therapies. In this study, we compare different pharmacological modalities in the management of infantile hemangiomas. The study included 853 infants with proliferative infantile hemangiomas who were treated with topical timolol, oral propranolol, intralesional pingyangmycin, or intravenous vincristine from 2009 to 2012. Treatment stratification was based on clinical severity of the tumor. Response to the treatment was clinically evaluated and graded as: excellent, good, poor, or no response. Response to pharmacological therapies was excellent in almost all infantile hemangiomas. In addition, patients younger than 8 months responded highly to pharmacological treatment (89.1%), while patients older than 8 months were less responsive to treatment (36.3%). There were no instances of life-threatening complications. Overall, these findings support the efficacy of timolol, propranolol, pingyangmycin and vincristine in the treatment of infantile hemangiomas, especially in the youngest patient cohort (8 months or younger). PMID:26876800

  19. Magnetic resonance imaging of less common pancreatic malignancies and pancreatic tumors with malignant potential

    PubMed Central

    Franz, D.; Esposito, I.; Kapp, A.-C.; Gaa, J.; Rummeny, E.J.

    2014-01-01

    Pancreatic tumors are an increasingly common finding in abdominal imaging. Various kinds of pathologies of the pancreas are well known, but it often remains difficult to classify the lesions radiologically in respect of type and grade of malignancy. Magnetic resonance imaging (MRI) is the method of choice for the evaluation of pancreatic pathologies due to its superior soft tissue contrast. In this article we present a selection of less common malignant and potentially malignant pancreatic neoplasms with their characteristic appearance on established MRI sequences with and without contrast enhancement. PMID:26937427

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

    ERIC Educational Resources Information Center

    Sanua, Victor D.

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

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

    ERIC Educational Resources Information Center

    Bryson, Carolyn Q.; Hingtgen, Joseph N.

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

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

    ERIC Educational Resources Information Center

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

    2007-01-01

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

  3. Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms

    PubMed Central

    Shafrir, Y.; Hrivnak, J.; Patterson, M.C.; Tennison, M.B.; Clark, H.B.; Gomez, C.M.

    2011-01-01

    Objective: To provide clinical data on a cohort of 6 patients with massive expansion (>200 CAG repeats) of spinocerebellar ataxia type 2 (SCA2) and investigate possible pathways of pathogenesis using bioinformatics analysis of ATXN2 networks. Methods: We present data on 6 patients with massive expansion of SCA2 who presented in infancy with variable combinations of hypotonia, global developmental delay, infantile spasms, and retinitis pigmentosa. ATXN2 is known to interact with a network of synaptic proteins. To investigate pathways of pathogenesis, we performed bioinformatics analysis on ATXN2 combined with known genes associated with infantile spasms, retinitis pigmentosa, and synaptic function. Results: All patients had a progressive encephalopathy with autonomic dysfunction, 4 had retinitis pigmentosa, and 3 had infantile spasms. The bioinformatics analysis led to several interesting findings. First, an interaction between ATXN2 and SYNJ1 may account for the development of retinitis pigmentosa. Second, dysfunction of postsynaptic vesicle endocytosis may be important in children with this progressive encephalopathy. Infantile spasms may be associated with interactions between ATXN2 and the postsynaptic structural proteins MAGI2 and SPTAN1. Conclusions: Severe phenotype in children with massive expansion of SCA2 may be due to a functional deficit in protein networks in the postsynapse, specifically involving vesicle endocytosis. PMID:21880993

  4. De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing

    PubMed Central

    Saitsu, Hirotomo; Akita, Tenpei; Tohyama, Jun; Goldberg-Stern, Hadassa; Kobayashi, Yu; Cohen, Roni; Kato, Mitsuhiro; Ohba, Chihiro; Miyatake, Satoko; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; Fukuda, Atsuo; Matsumoto, Naomichi

    2015-01-01

    The voltage-gated Kv2.1 potassium channel encoded by KCNB1 produces the major delayed rectifier potassium current in pyramidal neurons. Recently, de novo heterozygous missense KCNB1 mutations have been identified in three patients with epileptic encephalopathy and a patient with neurodevelopmental disorder. However, the frequency of KCNB1 mutations in infantile epileptic patients and their effects on neuronal activity are yet unknown. We searched whole exome sequencing data of a total of 437 patients with infantile epilepsy, and found novel de novo heterozygous missense KCNB1 mutations in two patients showing psychomotor developmental delay and severe infantile generalized seizures with high-amplitude spike-and-wave electroencephalogram discharges. The mutation located in the channel voltage sensor (p.R306C) disrupted sensitivity and cooperativity of the sensor, while the mutation in the channel pore domain (p.G401R) selectively abolished endogenous Kv2 currents in transfected pyramidal neurons, indicating a dominant-negative effect. Both mutants inhibited repetitive neuronal firing through preventing production of deep interspike voltages. Thus KCNB1 mutations can be a rare genetic cause of infantile epilepsy, and insufficient firing of pyramidal neurons would disturb both development and stability of neuronal circuits, leading to the disease phenotypes. PMID:26477325

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

    ERIC Educational Resources Information Center

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

    2010-01-01

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

  6. Instantánea de los cánceres infantiles

    Cancer.gov

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

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

    ERIC Educational Resources Information Center

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

    2011-01-01

    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…

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

    ERIC Educational Resources Information Center

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

    2008-01-01

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

  9. Infantile Fistula-in-Ano: A Report of Two Patients and Review for Dermatologists.

    PubMed

    Finelt, Nika; Shen, Lisa Y; Chamlin, Sarah L; Browne, Marybeth; Mancini, Anthony J

    2015-01-01

    Infantile fistula-in-ano is a well-known entity to pediatric surgeons but less recognized by dermatologists. Because these patients may initially present to a dermatologist or pediatric dermatologist, familiarity with the presentation is important. We present two infants with fistula-in-ano and review the literature on this condition. PMID:26205239

  10. Induction of pyloric hypertrophy by pentagastrin. An animal model for infantile hypertrophic pyloric stenosis.

    PubMed Central

    Dodge, J A; Karim, A A

    1976-01-01

    Administration of pentagastrin in depot form to 20 pregnant bitches produced pyloric hypertrophy in about 28% and gastroduodenal ulceration in about 16% of their pups. The two lesions were not necessarily found in the same individuals. Histological appearances of the pylorus in affected pups closely resembled those of human infantile pyloric stenosis. Images Fig. 1 Fig. 2 PMID:773789

  11. The Empty Fortress; Infantile Autism and the Birth of the Self.

    ERIC Educational Resources Information Center

    Bettelheim, Bruno

    The nature, origin, and treatment of infantile autism are explored with a consideration of the child's world of encounter and case histories. The beginning of life, called the region of shadows, is mentioned; and the world of the newborn, body language, mutuality, autonomy, the autistic anlage, and the right side of time are examined for the…

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

    ERIC Educational Resources Information Center

    Mahler, Margaret S.

    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…

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

    ERIC Educational Resources Information Center

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

    2008-01-01

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

  14. Social and Environmental Infantilization of Aged Persons: Observations in Two Adult Day Care Centers.

    ERIC Educational Resources Information Center

    Salari, Sonia Miner; Rich, Melinda

    2001-01-01

    Examines the social environments, staff behavior and social interaction of 72 elderly clients in adult day care centers, using qualitative research techniques. When the staff and environment were more infantilizing, provided less autonomy and fewer opportunities for privacy regulation, clients had lower social interaction with peers. In contrast,…

  15. The Empty Fortress; Infantile Autism and the Birth of the Self.

    ERIC Educational Resources Information Center

    Bettelheim, Bruno

    The nature, origin, and treatment of infantile autism are explored with a consideration of the child's world of encounter and case histories. The beginning of life, called the region of shadows, is mentioned; and the world of the newborn, body language, mutuality, autonomy, the autistic anlage, and the right side of time are examined for the…

  16. Optimizing Care With a Standardized Management Protocol for Patients With Infantile Spasms.

    PubMed

    Fedak, Erin M; Patel, Anup D; Heyer, Geoffrey L; Wood, Eric G; Mytinger, John R

    2015-09-01

    The primary aim of this quality improvement initiative was to increase the number of patients receiving first-line therapy (adrenocorticotropic hormone, corticosteroids, vigabatrin) as the initial treatment for infantile spasms. We implemented a standardized management protocol for infantile spasms based on the best available data and expert consensus. To assess the impact of this intervention, we compared the 3-month remission rates between prestandardization (January 2009 to August 2012) and poststandardization (September 2012 to May 2014) cohorts. We found that the percentage of patients receiving first-line therapy as the initial treatment was 57% (31/54) in the prestandardization cohort and 100% (35/35) in the poststandardization cohort (P < .001). The rate of infantile spasms remission was higher poststandardization compared to prestandardization (78.8% vs 30.6%, P < .001). Management standardization led to all patients receiving first-line therapy as the initial treatment and was associated with a significantly improved rate of infantile spasms remission 3 months after diagnosis. PMID:25535057

  17. Positron emission tomography findings in children with infantile spasms and autism.

    PubMed

    Dilber, Cengiz; Cal??kan, Mine; Sönmezo?lu, Kerim; Ni?li, Serap; Mukaddes, Nahit Motavalli; Tatl?, Burak; Ayd?nl?, Nur; Ekici, Bar??; Özmen, Meral

    2013-03-01

    The purpose of this study was to evaluate positron emission tomography (PET) findings in patients diagnosed with infantile spasms and autism. This study includes 90 patients who were diagnosed with infantile spasms at the Department of Pediatric Neurology in the Istanbul University Medical Faculty between 1995 and 2007. Of the 90 patients, 15 patients who were diagnosed with autism using the Autism Behaviour Checklist and Childhood Autism Rating Scale and a control group of nine patients without autism but with infantile spasms underwent PET examination. Mean patient age (± standard error, SE) varied between 3 years and 16 years (7.8 ± 4 years), while the mean follow-up time (±SE) varied between 2 years and 16 years (average: 7.1 ± 4 years). Autism was present in 11 patients with symptomatic spasms and in four patients with cryptogenic spasms (p=0.009). On the PET scans of the 15 patients with autism, 13 (86.7%) had significantly decreased metabolic activity in the temporal lobe (p<0.001), nine (60%) had significantly decreased activity in the frontal lobe (p=0.004), and seven (46.7%) had significantly decreased activity in the parietal lobe (p=0.022). In our opinion, hypometabolism in the frontal and parietal lobes, in addition to that previously reported in the temporal lobe, plays a role in the development of autism in patients with infantile spasms. PMID:23219829

  18. Reduced Visual Function Associated with Infantile Spasms in Children on Vigabatrin Therapy

    PubMed Central

    Hammoudi, Dena S.; Lee, Sophia S. F.; Madison, Adena; Mirabella, Giuseppe; Buncic, J. Raymond; Logan, William J.; Snead, O. Carter; Westall, Carol A.

    2013-01-01

    Purpose To use visual evoked potential (VEP) testing to determine whether visual deficits are present in children with a history of vigabatrin use. Methods Contrast sensitivity and visual acuity were assessed by visual evoked potential testing and compared between 28 children (mean age, 4.90 ± 4.92 years) with seizure disorders who had taken vigabatrin and 14 typically developing children (mean age, 3.14 ± 1.70 years). Exclusion criteria were heritable eye disease, suspected cortical visual impairment, nystagmus, and prematurity >2 weeks. The effects of the following factors on contrast sensitivity and visual acuity were examined: type of seizure (infantile spasms versus other), ERG result, duration of vigabatrin therapy, cumulative dosage of vigabatrin, and other seizure medications (other versus no other medication). Results Contrast sensitivity and visual acuity were reduced in vigabatrin-treated children with infantile spasms compared with vigabatrin-treated children with other seizure disorders and typically developing control subjects. The other factors examined had no significant effect on contrast sensitivity or visual acuity, with adjustment for seizure type. Conclusions Children with infantile spasms on vigabatrin may have compromised visual function, even in the absence of suspected cortical visual impairment. The children tested in the present study have reduced vision, probably associated with infantile spasms rather than vigabatrin. PMID:15671276

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

    ERIC Educational Resources Information Center

    Samango-Sprouse, Carole; Rogol, Alan

    2002-01-01

    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…

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

    ERIC Educational Resources Information Center

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

    2010-01-01

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

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

    ERIC Educational Resources Information Center

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

    2007-01-01

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

  2. [Infantile pyknocytosis: A cause of noenatal hemolytic anemia. Is recombinant erythropoietin an alternative to transfusion?].

    PubMed

    Bagou, M; Rolland, E; Gay, C; Patural, H

    2016-01-01

    Infantile pyknocytosis is a neonatal hemolytic disorder which causes anemia and icterus and is characterized by the presence of an increased number of distorted red blood cells called pyknocytes. Resolution spontaneously occurs in the first semester of life. It has been generally described as a rare entity, with an occasional family history. We report seven cases of infantile pyknocytosis observed in our hospital in 3years. Most of the infants presented with hemolytic icterus and profound anemia that was reaching its peak by the 3rd week of life. Three neonates received one to three red blood cell transfusions, according to former recommendations. However, the following four received a treatment with recombinant erythropoietin administered subcutaneously. Only one of these four cases required a transfusion. All of them were free of hematological disease 2-3months after completion of treatment. Infantile pyknocytosis is a recognized cause of neonatal hemolytic anemia, which requires careful examination of red cell morphology on a peripheral blood smear. The cause of this transient disorder remains unknown. Our observations show that recombinant erythropoietin therapy is effective in treating infantile pyknocytosis and increases the reticulocyte response, thus improving the hemoglobin level. PMID:26563723

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

    PubMed

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

    2015-04-01

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

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

    ERIC Educational Resources Information Center

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

    2011-01-01

    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…

  5. Systemic sarcoidosis mimicking malignant metastatic disease

    PubMed Central

    Hammen, Irena; Sherson, David Lee; Davidsen, Jesper Roemhild

    2015-01-01

    We present a case of systemic sarcoidosis involving the liver, pancreas, lungs, mediastinal and intraabdominal lymph nodes and bones. Multiple organ system manifestations mimicked malignant metastatic disease. The diagnosis was established with clinical, radiological, and pathological findings after neoplasm was ruled out by pathological tests. The patient showed rapid symptom remission with systemic steroid treatment. PMID:26672956

  6. Intrasellar malignant peripheral nerve sheath tumor (MPNST).

    PubMed

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

    2007-02-01

    Intracranial malignant peripheral nerve sheath tumors (MPNST) and intrasellar schwannomas are rare tumors. We describe a case of an intrasellar schwannoma with progression to a MPNST, a finding that, although very rare, extends the differential diagnosis of intrasellar lesions. PMID:17195046

  7. [Malignant mesothelioma--a diagnostic challenge].

    PubMed

    Marta, Maria João; Santos Silva, João; Oliveira, Anabela; Saavedra, J A

    2003-01-01

    Malignant mesothelioma is a rare neoplasm associated, in 80% of the cases, with exposure to asbestos fibres, with a latency period between 20 and 50 years. The treatment is palliative in most cases because of the extension of the disease at the time of diagnosis. Mesothelioma is a resistant tumour to chemotherapy and radiotherapy. Overall survival varies between 4 and 18 months, rarely over 5 years. The authors present a case of a 82-year-old man, ex-sailor, with prostatic neoplasm in hormonal "escape" phase, admitted with cough and dyspnea. The chest radiograph showed extensive right pleural effusion. The diagnostic hypothesis were metastatic, infectious and primitive neoplasm origin. Pleural biopsy revealed epithelial malignant mesothelioma confirmed by thoracoscopy, associated with prolongated occupational exposure to asbestos fibres. Without surgery indication the patient was submitted to chemotherapy with gencitabin and cisplatin associated with pleurodesis. Although he improved clinically, the presence of two malignant neoplasms, a rare situation in clinical practice, is associated with a poor prognosis, especially condicionated by the epithelial malignant mesothelioma in Butchart stage II. Finally, we discussed new differential diagnostic techniques with metastatic adenocarcinoma and target therapies under study. PMID:15188066

  8. Malignant Solitary Fibrous Tumor of the Pancreas.

    PubMed

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

    2015-08-01

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

  9. Hyperparathyroidism After Irradiation for Childhood Malignancy

    SciTech Connect

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

    2009-03-15

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

  10. Malignant pirates of the immune system.

    PubMed

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

    2011-10-01

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

  11. Malignant catarrhal fever: inching towards understanding

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  12. [Academic thoughts of "pushing meridians to treat viscera diseases" in LIU' s infantile tuina in Xiangxi area].

    PubMed

    Tang, Wei; Shao, Xiangning; Zhang, Wei; Jia, Yuanbin; Wang, Xiaojun; Liu, Yingying; Zhu, Jing; Ye, Yong; Zhang, Liyong

    2015-06-01

    As one of the most important schools of Chinese infantile tuina, the main academic thoughts of LIU's infantile tuina in Xiangxi area ware "pushing the meridians". In clinical treatment; he focuses on zang-fu syndrome differentiation and meridians tropism treatment, and based on the generation-inhibition of five elements as well as the infantile physiological and pathological characteristics, the "pushing meridians to treat viscera diseases" was gradually developed, which has enriched the academic connotation and performed a better guide for clinical pediatric treatment. PMID:26480564

  13. Hypercalcemia of malignancy and new treatment options

    PubMed Central

    Sternlicht, Hillel; Glezerman, Ilya G

    2015-01-01

    Hypercalcemia of malignancy affects up to one in five cancer patients during the course of their disease. It is associated with both liquid malignancies, commonly multiple myeloma, leukemia, and non-Hodgkins lymphoma and solid cancers, particularly breast and renal carcinomas as well as squamous cell carcinomas of any organ. The clinical manifestations of hypercalcemia are generally constitutional in nature and not specific to the inciting malignancy. Such physical manifestations can range from malaise to lethargy and confusion. Constipation and anorexia are common. Acute kidney injury is likely the most frequently encountered manifestation of end organ damage. Symptomatology is closely linked to both the absolute elevation of serum calcium levels and the rapidity of calcium rise. The majority of cases are humoral in etiology and related to parathyroid hormone-related protein (PTHrP). Approximately 20% of cases are the result of direct bone metastasis with extra-renal 1,25-dihydroxyvitamin D (calcitriol) and ectopic parathyroid hormone production likely accounting for less than 1% of cases. The diagnosis of hypercalcemia of malignancy is confirmed either by an elevated PTHrP or by an evidence of bone metastasis in the appropriate clinical setting. Treatment is predicated on the patient’s symptoms and absolute serum calcium level. Interventions are aimed at lowering the serum calcium concentration by inhibiting bone resorption and increasing urinary calcium excretion, the former accomplished via bisphosphonate therapy and the latter with aggressive hydration. Novel therapies for refractory disease include denosumab, a monoclonal antibody against the receptor activator of nuclear factor κB ligand, and the calcimimetic cinacalcet. Finally, anti-PTHrP antibodies have been successfully deployed in animal models of disease. Despite the efficacy of the above therapies, hypercalcemia of malignancy portends an ominous prognosis, indicating advanced and often refractory cancer with survival on the order of months. PMID:26675713

  14. Infantile tauopathies: Hemimegalencephaly; tuberous sclerosis complex; focal cortical dysplasia 2; ganglioglioma.

    PubMed

    Sarnat, Harvey B; Flores-Sarnat, Laura

    2015-06-01

    Tau is a normal microtubule-associated protein; mutations to phosphorylated or acetylated forms are neurotoxic. In many dementias of adult life tauopathies cause neuronal degeneration. Four developmental disorders of the fetal and infant brain are presented, each of which exhibits up-regulation of tau. Microtubules are cytoskeletal structures that provide the strands of mitotic spindles and specify cellular polarity, growth, lineage, differentiation, migration and axonal transport of molecules. Phosphorylated tau is abnormal in immature as in mature neurons. Several malformations are demonstrated in which upregulated tau may be important in pathogenesis. All produce highly epileptogenic cortical foci. The prototype infantile tauopathy is (1) hemimegalencephaly (HME); normal tau is degraded by a mutant AKT3 or AKT1 gene as the aetiology of focal somatic mosaicism in the periventricular neuroepithelium. HME may be isolated or associated with neurocutaneous syndromes, particularly epidermal naevus syndromes, also due to somatic mutations. Other tauopathies of early life include: (2) tuberous sclerosis complex; (3) focal cortical dysplasia type 2b (FCD2b); and (4) ganglioglioma, a tumor with dysplastic neurons and neoplastic glial cells. Pathological tau in these infantile cases alters cellular growth and architecture, synaptic function and tissue organization, but does not cause neuronal loss. All infantile tauopathies are defined neuropathologically as a tetrad of (1) dysmorphic and megalocytic neurons; (2) activation of the mTOR signaling pathway; (3) post-zygotic somatic mosaicism; and (4) upregulation of phosphorylated tau. HME and FCD2b may be the same disorder with different timing of the somatic mutation in the mitotic cycles of the neuroepithelium. HME and FCD2b may be the same disorder with different timing of the somatic mutation in the mitotic cycles of the neuroepithelium. Tauopathies must be considered in infantile neurological disease and no longer restricted to adult dementias. The mTOR inhibitor everolimus, already demonstrated to be effective in TSC, also may be a potential treatment in other infantile tauopathies. PMID:25451314

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

    PubMed Central

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

    2013-01-01

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

  16. A Common Polymorphism within the IGF2 Imprinting Control Region Is Associated with Parent of Origin Specific Effects in Infantile Hemangiomas

    PubMed Central

    Schultz, Brent; Yao, Xiaopan; Deng, Yanhong; Waner, Milton; Spock, Christopher; Tom, Laura; Persing, John; Narayan, Deepak

    2015-01-01

    Infantile hemangioma (IH) is the most common tumor of the pediatric age group, affecting up to 4% of newborns ranging from inconsequential blemishes, to highly aggressive tumors. Following well defined growth phases (proliferative, plateau involutional) IH usually regress into a fibro-fatty residuum. Despite the high prevalence of IH, little is known regarding the pathogenesis of disease. A reported six fold decrease in IGF2 expression (correlating with transformation of proliferative to involuted lesions) prompted us to study the IGF-2 axis further. We demonstrate that IGF2 expression in IH is strongly related to the expression of a cancer testes and suspected oncogene BORIS (paralog of CTCF), placing IH in the unique category of being the first known benign BORIS positive tumor. IGF2 expression was strongly and positively related to BORIS transcript expression. Furthermore, a stronger association was made when comparing BORIS levels against the expression of CTCF via either a percentage or difference between the two. A common C/T polymorphism at CTCF BS6 appeared to modify the correlation between CTCF/BORIS and IGF2 expression in a parent of origin specific manner. Moreover, these effects may have phenotypic consequences as tumor growth also correlates with the genotype at CTCF BS6. This may provide a framework for explaining the clinical variability seen in IH and suggests new insights regarding CTCF and BORIS related functionality in both normal and malignant states. PMID:26496499

  17. A Common Polymorphism within the IGF2 Imprinting Control Region Is Associated with Parent of Origin Specific Effects in Infantile Hemangiomas.

    PubMed

    Schultz, Brent; Yao, Xiaopan; Deng, Yanhong; Waner, Milton; Spock, Christopher; Tom, Laura; Persing, John; Narayan, Deepak

    2015-01-01

    Infantile hemangioma (IH) is the most common tumor of the pediatric age group, affecting up to 4% of newborns ranging from inconsequential blemishes, to highly aggressive tumors. Following well defined growth phases (proliferative, plateau involutional) IH usually regress into a fibro-fatty residuum. Despite the high prevalence of IH, little is known regarding the pathogenesis of disease. A reported six fold decrease in IGF2 expression (correlating with transformation of proliferative to involuted lesions) prompted us to study the IGF-2 axis further. We demonstrate that IGF2 expression in IH is strongly related to the expression of a cancer testes and suspected oncogene BORIS (paralog of CTCF), placing IH in the unique category of being the first known benign BORIS positive tumor. IGF2 expression was strongly and positively related to BORIS transcript expression. Furthermore, a stronger association was made when comparing BORIS levels against the expression of CTCF via either a percentage or difference between the two. A common C/T polymorphism at CTCF BS6 appeared to modify the correlation between CTCF/BORIS and IGF2 expression in a parent of origin specific manner. Moreover, these effects may have phenotypic consequences as tumor growth also correlates with the genotype at CTCF BS6. This may provide a framework for explaining the clinical variability seen in IH and suggests new insights regarding CTCF and BORIS related functionality in both normal and malignant states. PMID:26496499

  18. Malignant transformation of oral potentially malignant disorders in males: a retrospective cohort study

    PubMed Central

    2009-01-01

    Background Oral squamous cell carcinoma could be preceded by clinically evident oral potentially malignant disorders (OPMDs). Transformation of OPMDs to cancer has been studied in several population groups. It is difficult to undertake comparisons across populations due to variations in the methods of computation of malignancy rates among different studies. The aim of our study was to estimate the rate of malignant transformation of OPMDs taking into account the duration of follow-up and to identify the significant factors indicative of malignant potential. Methods A total of 148 male patients with OPMDs were included. They were selected among all consecutive subjects registered at the maxillofacial clinic at a medical hospital in Kaohsiung, Taiwan. The mean follow up period was 37.8 months. Results The malignant transformation rate was highest in subjects diagnosed with oral epithelial dysplasia. In this group the transformation rate was 7.62 per 100 persons-year. The rate in the group with verrucous hyperplasia (VH) was 5.21 per 100 persons-year, and in those with hyperkeratosis or epithelial hyperplasia was 3.26 per 100 persons-year. The anatomical site of OPMDs was the only statistically significant variable associated with malignancy. The hazard rate ratio (HRR) was 2.41 times for tongue lesions when compared with buccal lesions. Conclusion The reported discrepancies of malignant transformation of OPMDs involve the follow-up time to cancer development and hence it is preferable to use a time-to-event estimation for comparisons. We found that malignant transformation of OPMDs involving the tongue was significantly higher than in other anatomical subsites after adjusting for the clinicopathological type or lifestyle factors at diagnosis. PMID:19640311

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

    MedlinePLUS

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

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

    SciTech Connect

    Williams, R.; McKay, T.; Mitchison, H.; Gardiner, M. ); Vesa, J.; Jaervelae, I.; Hellsten, E.; Peltonen, L.; Thompson, A.; Callen, D.; Sutherland, G.; Luna-Battadano, D.; Stallings, R.

    1993-10-01

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

  1. Adrenal tumors: how to establish malignancy ?

    PubMed

    Fassnacht, M; Kenn, W; Allolio, B

    2004-04-01

    Discerning malignancy in adrenal tumors largely influences disease management and is, therefore, of utmost importance to both patient and physician. Clinical presentation (e.g. virilization) and baseline hormonal evaluation (e.g. high serum DHEAS) are occasionally of great value but usually provide only limited help in predicting malignancy. The probability of malignancy is clearly related to tumor size, as almost all lesions <3 cm are benign whereas a diameter of >6 cm indicates a high risk of malignancy. Computed tomography (CT) and magnetic resonance imaging (MRI) both contribute significantly to the characterization of adrenal masses. If the attenuation of a homogeneous mass with smooth border is 10 Hounsfield units or less in unenhanced CT the diagnosis of a lipid rich adenoma is established. Similarly, enhancement washout of more than 50% in CT at 10-15 min suggests a benign lesion. In MRI both rapid contrast enhancement after gadolinium followed by rapid washout and signal intensity loss using opposed-phase image in chemical shift analysis also indicate the presence of an adenoma. In contrast, adrenal carcinomas--but also pheochromocytomas--typically present as inhomogeneous lesion with intermediate-to-high intensity on T2 images in MRI. Margins and enhancement after contrast media in CT are irregular in adrenal carcinoma. Other imaging techniques either offer little additional information (NP-59 scintigraphy) or have not yet been fully established (positron emission tomography). Fine needle aspiration/cut biopsy is at present restricted to patients with a known extra-adrenal malignancy and suspected adrenal metastasis as the only evidence of disseminated disease. Adrenal tumors classified as benign undergo follow-up imaging to assess tumor growth. If an increase in diameter of >1 cm is seen, surgical removal is recommended. Even after tumor removal the diagnosis of dignity may remain difficult. Diagnostic scores together with new immunohistological markers are the methods of choice to assess malignancy. In conclusion, an interdisciplinary approach with a structured use of available diagnostic tools is needed to classify adrenal tumors correctly. PMID:15233562

  2. Primary thyroid lymphoma: a rare thyroid malignancy.

    PubMed

    Mukhtar, Rubina; Khattak, Rauf; Mateen, Abdul

    2011-12-01

    Incidence of thyroidal masses is very high with predominance in females. Most of these masses are benign. Malignancy can be of thyroid or non-thyroid origin. Surgery is treatment of choice in the former but not in latter. Primary thyroid lymphoma (PTL) is a rare cause of thyroid malignancy of non-thyroid origin which is highly treatable without surgery but early diagnosis is important requisite to have better outcome. Fine needle aspiration cytology (FNAC) is an important tool in early diagnosis of PTL, which enables doctors to treat patient better without major surgery and its morbidity. Two cases of primary thyroid lymphoma are hereby presented. The patient diagnosed on FNAC had better outcome than the one who had major surgery. PMID:22166704

  3. Primary malignant tumours of the duodenum.

    PubMed

    Nix, G A; Wilson, J H; Dees, J

    1985-04-01

    The clinical and radiological findings in 19 patients with primary duodenal malignancy are described. Weight loss, abdominal pain, nausea and vomiting were the main symptoms. Diagnosis was made by endoscopy or ERCP (71%) or by barium studies (68%). In retrospect the tumour was visible in 97% of the studies. Tumour growth was longitudinal, circular or spiral, the inner curvature being involved over a greater length than the outer curvature. Exophytic tumour growth, involvement of the papilla of Vater, malignant spikes, transient, non-constant tumour image, skip lesions and ulceration were often seen. Mean survival time was 18 months from start of symptoms in 10 inoperable patients, and 24 months in 9 patients undergoing resection. PMID:2986213

  4. Carcinosarcoma of parotid gland (malignant mixed tumor)

    PubMed Central

    Feng, Duan; Fidele, Nyimi Bushabu; Agustin, Mansthumba Milolo; Jian, Guan; Bourleyi, Sekele Isouradi; Augustin, Lamwe; Olivier, Ngueji Kakubu

    2015-01-01

    Salivary gland carcinosarcoma is a rare neoplasm; with a poor prognosis. The most common epithelial components are adenocarcinoma or squamous cell carcinoma, whereas the most common mesenchymal components are chondrosarcoma. It should not be confused with the most common carcinoma ex-pleomorphic adenoma, in which the epithelial component alone is malignant. This condition might exhibit with a wide variety of presentation and symptoms along with associated conditions. We present a case of an old patient who presented with a very unusual type clinically with confusing presentation which was eventually diagnosed as carsinosarcoma. In addition, the literature is reviewed, and the possible clinical signs and management of malignant mixed tumor of the salivary gland are briefly discussed.

  5. Candida in potentially malignant oral disorders

    PubMed Central

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

    2015-01-01

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

  6. Interventions to treat malignant pleural effusions.

    PubMed

    Lenker, April; Mayer, Deborah K; Bernard, Stephen A

    2015-10-01

    Malignant pleural effusions (MPEs) are common complications that occur with advanced stages of cancer. In general, they indicate a poor prognosis and greatly affect quality of life (QOL). The treatment goal of MPEs is to provide relief of symptoms. The standard treatment for MPEs is talc pleurodesis; however, indwelling pleural catheters have become more frequently used. This article focuses on current management strategies for MPEs and assesses their influence on QOL.At a GlanceSymptoms of malignant pleural effusions (MPEs), which involve the accumulation of fluid in the pleural space, include dyspnea, shortness of breath, chest pain, and other issues that decrease functional status.Treatment for MPEs should be palliative, achieving immediate symptom relief and improved quality of life.The optimal treatment strategy for MPEs should have minimal side effects, require minimal or no hospitalization, and have low rates of recurrence. PMID:26414568

  7. Review: Cell Dynamics in Malignant Pleural Effusions.

    PubMed

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

    2015-02-01

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

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

    PubMed

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

    2014-06-01

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

  9. Malignant peritoneal mesothelioma: a case report.

    PubMed

    Vuković, M; Krivokuća, D; Moljević, N

    2009-01-01

    In this paper we report a case of malignant peritoneal mesothelioma, a rare abdominal tumour. A 72-year-old male with a medical history of heart disease presented to our Clinic because of pain in the right half of the abdomen. Diagnostic procedures, including clinical and laboratory examination, X-ray, ultrasonography and computed tomography, revealed a tumour in the right lower quadrant of the abdomen. The approximate size of the tumour size at initial detection was 7 cm. During the pre-operative procedure an evident growth of the tumour was noticed, indicating exploratory laparotomy. Intra-operative findings revealed a large tumour of the anterolateral abdominal wall, involving the greater omentum. Tumour resection was performed, as well as resection of the portion of the anterolateral abdominal wall and omentectomy. Postoperative immunohistochemical analysis revealed malignant peritoneal mesothelioma. PMID:19943603

  10. Primary malignant melanoma of the lacrimal sac

    PubMed Central

    Li, Yang-Jun; Zhu, Shao-Jun; Yan, Hong; Han, Jing; Wang, Dan; Xu, Shuang

    2012-01-01

    Primary malignant melanoma of the lacrimal sac is extremely rare. It is usually diagnosed at an advanced stage after excision or biopsy of a tumour. We treated a 59-year-old man with tearing and bloody discharge from the right eye. Clinical examination revealed a firm, localised mass at the inner canthus consistent with a lacrimal sac swelling. Sac washout demonstrated obstruction to entry into the lacrimal sac with a reflux of blood-stained fluid. The pathological findings and the immunohistochemical studies showed a malignant melanoma of the lacrimal sac. We performed radical surgery and radiation therapy. Follow-up 4?months after surgery revealed no evidence of recurrence. Because this tumour often presents with symptoms similar to dacryocystitis and may masquerade as a chronic dacryocystitis, ophthalmologists should be aware of this disease entity when encountered with patients with epiphora and mass in the medial canthal area. PMID:22891020

  11. Malignant masses in the therapeutically irradiated breast

    SciTech Connect

    Paulus, D.D.; Libshitz, H.I.; Montague, E.D.

    1980-10-01

    Mammography is of value in following the response of malignant masses after radiation therapy. Clinical error in evaluating mass size may be considerable, particularly in large breasts or breasts that are contracted and firm. Mammograms of 40 patients treated primarily with irradiation for breast cancer, taken from 3 weeks to 130 months after treatment, were reviewed. The malignant mass markedly diminished or disappeared after radiation therapy in most patients. The rate at which such changes occur is temporally related to the irradiation. Residual radiographically or clinically identifiable mass may persist even in sterilized cancers. Scarring and/or distortion occur frequently. The necessity for mammographic evaluation to determine tumor response and possible recurrence is emphasized, and a mammographic schedule is suggested to facilitate follow-up.

  12. Imaging features of haematological malignancies of kidneys.

    PubMed

    Sandrasegaran, K; Menias, C O; Verma, S; Abdelbaki, A; Shaaban, A; Elsayes, K M

    2016-03-01

    Haematological malignancies are relatively uncommon neoplasms of kidneys. Nevertheless, the incidence of these neoplasms is increasing, partly due to more widespread use of computed tomography and magnetic resonance imaging. This article discusses the clinical and imaging features of renal lymphoma, leukaemia, extra-osseous multiple myeloma, and post-transplant lymphoproliferative disorder. Although there is overlap of imaging features with other more common malignancies, such as transitional and renal cell cancers, the combination of imaging findings and the appropriate clinical picture should allow the radiologist to raise a provisional diagnosis of a haematological neoplasm. This has management implications including the preference for image-guided core biopsies and a shift towards medical rather than surgical therapy. PMID:26688550

  13. Targeting malignant mitochondria with therapeutic peptides.

    PubMed

    Constance, Jonathan E; Lim, Carol S

    2012-08-01

    The current status of peptides that target the mitochondria in the context of cancer is the focus of this review. Chemotherapy and radiotherapy used to kill tumor cells are principally mediated by the process of apoptosis that is governed by the mitochondria. The failure of anticancer therapy often resides at the level of the mitochondria. Therefore, the mitochondrion is a key pharmacological target in cancer due to many of the differences that arise between malignant and healthy cells at the level of this ubiquitous organelle. Additionally, targeting the characteristics of malignant mitochondira often rely on disruption of protein--protein interactions that are not generally amenable to small molecules. We discuss anticancer peptides that intersect with pathological changes in the mitochondrion. PMID:22946430

  14. Malignant syphilis in an AIDS patient.

    PubMed

    dos Santos, T R; de Castro, I J; Dahia, M M B; de Azevedo, M C V M; da Silva, G A R; Motta, R N; da Cunha Pinto, J; de Almeida Ferry, F R

    2015-04-01

    Malignant syphilis is an uncommon, but not unknown, ulcerative variation of secondary syphilis. The lesions typically begin as papules, which quickly evolve to pustules and then to ulcers with elevated edges and central necrosis. It is usually, but not mandatory, found in patients with some level of immunosuppression, such as HIV patients, when the TCD4(+) cell count is >200 cells/mm(3). Despite the anxiety the lesions cause, this form of the disease has a good prognosis. The general symptoms disappear right after the beginning of treatment, and lesions disappear over a variable period. This study reports the case of a 27-year-old man who has been HIV positive for 6 years, uses antiretroviral therapy incorrectly, has a TCD4(+) cell count of 340 cells/mm(3), a VDRL of 1:128 and itchy disseminated hyperchromic maculopapular lesions with rupioid crusts compatible with malignant syphilis. PMID:25408098

  15. When restless legs syndrome turns malignant.

    PubMed

    Schulte, Eva C; Gross, Nadine; Slawik, Helen; Winkelmann, Juliane

    2013-06-01

    Usually symptoms of restless legs syndrome (RLS) respond well to treatment with dopaminergic drugs, opiates, or anticonvulsant medications. Yet sometimes symptoms can be severe and become refractory, even to high-dose combination therapy. Here we present two cases of familial RLS with rigorous and unusual motor and sensory symptoms in the form of episodes of myoclonic hyperkinesias and painful sensations in addition to more characteristic features of RLS. Stepwise reduction of all RLS-and antidepressant medication down to opiate monotherapy-and subsequent opiate rotation led to an improvement of symptoms. Yet in both cases, reintroduction of low-dose dopaminergic drugs was necessary to achieve satisfactory treatment effect. We have termed this form of RLS refractory to multiple combinations of all classes of commonly used drugs malignant RLS. Therapeutically simplification and reduction of the drug scheme and opiate rotation should be considered in malignant RLS. PMID:23643657

  16. Targeting Sphingosine-1-Phosphate in Hematologic Malignancies

    PubMed Central

    Stevenson, Christina E.; Takabe, Kazuaki; Nagahashi, Masayuki; Milstien, Sheldon; Spiegel, Sarah

    2012-01-01

    Sphingosine-1-phosphate (S1P) is a pleiotropic bioactive lipid mediator that regulates several processes important for hematologic cancer progression. S1P is generated by two sphingosine kinases, SphK1 and SphK2, and is exported outside the cell, where it activates specific cell surface S1P G-protein coupled receptors in autocrine/paracrine manner, coined “inside-out signaling”. In this review, we highlight the importance of SphK1 and inside-out signaling by S1P in hematologic malignancy. We also summarize the results of studies targeting the SphK1/S1P/S1P receptor axis and the effects of the S1P receptor modulator, FTY720, in hematologic malignancy. PMID:21707492

  17. Ocular and orbital metastasis from systemic malignancies.

    PubMed

    Jain, I S; Dinesh, K; Mohan, K

    1987-01-01

    One hundred and seventy adult patients and one hundred and forty-eight children with systemic malignancies were examined for ocular and/or orbital metastases. Thirty-six patients (11.3%) had intraocular and/or orbital metastasis. Twenty-nine of the 36 patients (80.5%) had orbital metastasis, five patients (13.9%) had intraocular and two patients (5.5%) had intraocular and orbital metastasis. The commonest malignancy producing ocular metastasis was carcinoma breast in females and carcinoma bronchus in males. Eight of the 17 children had orbital deposits from leukaemia (47%) and six from neuroblastoma (35%). One child had uveal infiltration from acute lymphatic leukaemia. Ophthalmic metastasis were treated by external irradiation and/or combination chemotherapy whenever possible. The mean survival was five months for intraocular metastasis and 15.6 months for the orbital metastasis in adults. Prognosis was very poor in children. PMID:3508830

  18. Systemic treatment of malignant pleural mesothelioma.

    PubMed

    Grosso, Federica; Scagliotti, Giorgio Vittorio

    2012-03-01

    Malignant pleural mesothelioma is a rare malignancy with a dismal prognosis. The clinical management of most of the patients with this disease is quite challenging, and, overall, the therapeutic strategy has not yet benefited from the recent advances in molecular biology. Randomized evidence supports the use of cisplatin in combination with pemetrexed or raltitrexed as first-line treatments. In elderly patients with comorbidities cisplatin may be replaced by carboplatin because of a lesser burden of toxicities. The role of second-line chemotherapy is unproven, although pemetrexed can be regarded as the standard option in pemetrexed-naive patients and therapeutic rechallenge with pemetrexed may be considered in selected patients with prolonged disease control after first-line therapy. Targeted therapies failed to demonstrate any substantial activity; however, immunotherapies may complement other treatment strategies. In summary, there is an unmet clinical need and innovative approaches to select new potentially active drugs are highly warranted. PMID:22409465

  19. Association Between Coeliac Disease and Risk of Any Malignancy and Gastrointestinal Malignancy

    PubMed Central

    Han, Yuehua; Chen, Wuzhen; Li, Peiwei; Ye, Jun

    2015-01-01

    Abstract Coeliac disease (CD) is reported to be associated with risk of malignancy; however, this association remains unclear. We aimed to systematically evaluate the association between CD and risk of all malignancies as well as gastrointestinal (GI) malignancy specifically. The PUBMED and EMBASE databases were searched to identify eligible studies from 1960 to March 2015, without restriction. Two reviewers independently performed the study inclusion and data extraction methods. Odds ratios (ORs), risk ratios, or standardized incidence ratios were pooled using either a fixed- or a random-effects model. Sensitivity and subgroup analyses were used to explore sources of heterogeneity. A total of 17 studies were included in this meta-analysis. The pooled OR for risk of all malignancies was 1.25 (95% confidence interval [CI] 1.09–1.44), whereas the pooled OR for risk of GI malignancy was 1.60 (95% CI 1.39–1.84) and suggested an inverse association with CD. Moreover, patients with CD were at a higher risk of esophageal cancer (pooled OR?=?3.72, 95% CI 1.90–7.28) and small intestinal carcinoma (pooled OR?=?14.41, 95% CI 5.53–37.60), whereas no significant associations were observed for other GI cancers, including gastric, colorectal, liver, and pancreatic cancers. Subgroup analyses also indicated that the results were influenced by the CD diagnostic method, as well as the follow-up time after CD diagnosis. CD was associated with increased risk of all malignancies as well as GI malignancies, including esophageal cancer and small intestinal carcinoma. PMID:26402826

  20. Transgenic mouse model of malignant skin melanoma.

    PubMed

    Mintz, B; Silvers, W K

    1993-10-01

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