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

Malignant infantile osteopetrosis: case report with review of literature  

PubMed Central

Malignant Infantile Osteopetrosis (MIOP) is a rare genetic disorder due to osteoclast abnormal activity. We report a thirteen month-old male patient, diagnosed as MIOP while investigating the cause of hepatosplenomegaly associated with hydrocephalus. His medical history revealed non consanguineous parents and one brother's death at the same age of unknown etiology (similar symptoms). Systemic examination showed hepatosplenomegaly, growth failure, developmental milestones delay, and rickets features. Ophthalmic exam yielded bilateral optic atrophy. Skeleton radiographs detected generalized dense bone and rickets. Cerebral CT scan revealed hydrocephalus. Histological examination showed hypoplastic bone marrow and extra-medullary hematopoeisis. Diagnosis was confirmed by genetic testing that showed two heterozygote mutations within the TCIRG1 gene. The patient received supportive treatment. He died from an acute respiratory distress. MIOP should be kept in mind as a rare cause of hepatosplenomegaly. Early diagnosis and timely Hematopoietic stem cell transplantation are the only curative approach for an otherwise fatal disease. PMID:25018813

Essabar, Laila; Meskini, Toufik; Ettair, Said; Erreimi, Naima; Mouane, Nezha

2014-01-01

2

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

PubMed

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

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

2014-01-01

3

Osteopetrosis.  

PubMed

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

Stark, Zornitza; Savarirayan, Ravi

2009-01-01

4

Osteopetrosis  

PubMed Central

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

Stark, Zornitza; Savarirayan, Ravi

2009-01-01

5

Lectin histochemistry of infantile lysosomal storage disease associated with osteopetrosis  

Microsoft Academic Search

In infantile lysosomal storage disease associated with osteopetrosis the nature of the enzyme deficiency as well as the type of material accumulated are both unknown. We used lectin histochemistry to characterize the storage material of previously reported cases. Using paraffin sections neurons stained positively with Luxol fast blue (LFB), periodic acid-Schiff (PAS), Concanavalia ensiformis agglutinin, Datura stramonium agglutinin, Griffonia simplicifolia-I,

Joseph Alroy; Inna Lomakina; M. Castagnaro; E. Skutelsky

1994-01-01

6

Genetics Home Reference: Osteopetrosis  

MedlinePLUS

... abnormal swelling caused by a buildup of fluid (lymphedema) and a condition called anhydrotic ectodermal dysplasia that ... Registry: Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema Genetic Testing Registry: Osteopetrosis and infantile neuroaxonal dystrophy ...

7

Endoscopic third ventriculostomy for the treatment of osteopetrosis-related hydrocephalus: a case-based update  

Microsoft Academic Search

Background  Osteopetrosis is a heterogenous group of disorders characterised by a failure of normal bone maturation and abnormal bone\\u000a sclerosis secondary to the failure of osteoclasts to resorb bone. The most serious consequences of this disorder affect the\\u000a nervous system. Patients with infantile osteopetrosis (also called malignant osteopetrosis) can develop a gradual occlusion\\u000a of, or narrowing of the skull foramina at

Bhoresh Dhamija; Benedetta Ludovica Pettorini; Guirish Solanki

8

Prosthetic aspects in adult osteopetrosis.  

PubMed

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

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

2014-10-01

9

Middle cerebral arterial occlusion in a child with osteopetrosis major  

Microsoft Academic Search

Osteopetrosis major (infantile autosomal recessive type) usually presents with pathological fractures, bone marrow failure\\u000a and some neurological deficits due to remodelling defect of the bone and narrowed bonny channel of the blood supply. Herein\\u000a we present a case of osteopetrosis major with neurological deficits not attributed to the narrowed carotid channel of the\\u000a petrous bone, but due to middle cerebral

H. A. Tasdemir; A. Dagdemir; C. Celenk; D. Albayrak

2001-01-01

10

Osteopetrosis: Radiological & Radionuclide Imaging  

PubMed Central

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

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

2015-01-01

11

Autosomal Recessive Osteopetrosis in Chuvashiya  

Microsoft Academic Search

A genetic epidemiological study of osteopetrosis was carried out in Chuvashiya. The major signs of this disorder are severe anemia developed in the prenatal or early postnatal life, hepatosplenomegaly, and a progressive loss of sight and hearing. Osteopetrosis showed the autosomal recessive inheritance with a somewhat increased proportion of affected patients in families. The lowest estimate of osteopetrosis frequency in

E. K. Ginter; A. G. Kirillov; E. I. Rogaev

2001-01-01

12

Clinicoradiological Findings of Benign Osteopetrosis: Report of Two New Cases  

PubMed Central

Osteopetrosis represents a heterogeneous group of rare, hereditary bone dysplasias that share the hallmark of increased bone density caused by osteoclast dysfunction. It can manifest through a spectrum of symptoms and severity, from neonatal onset with life-threatening complications ("malignant" autosomal recessive osteopetrosis) to two more benign conditions with the incidental radiographic findings, principally affecting adults (autosomal dominant osteopetrosis type I and type II). We report 2 new cases of autosomal dominant osteopetrosis type II. Both subjects were short in stature. Multiple healed fractures of long bones, diminished marrow spaces and hypoplastic maxillary sinuses were remarkable findings. To our knowledge they are the first reported cases of autosomal dominant type II of this disease in Iran. PMID:23277863

Tohidi, Elahe; Bagherpour, Ali

2012-01-01

13

[Osteopetrosis (report of 2 cases)].  

PubMed

Two distinct and characteristic cases of osteopetrosis are presented. The first concerns a fourth month old baby with the malignant form of the disease, initiated since the newborn period. He was admitted because of abnormal ocular movements and probably deafness. At the physical examination he showed bilateral optic atrophy, abnormal ocular movements, hepatosplenomegaly and petechia. The diagnosis was confirmed by clinical means and radiological studies of virtually all of his skeleton. Several fractures were found. Laboratory tests showed marked anemia, trombocytopenia "tear cells", evidence of medullary erythropoiesis and myelofibrosis. An increased alkaline phosphatase was detected in serum and in granulocytes. The second case corresponds to a 26 year-old female with the benign form of the disease. She had multiple pathological fractures specially of her lower limbs, that produced severe impotence in her gait. In this case, the diagnosis is suspected on clinical basis and confirmed with the characteristic radiological findings. Some of the more distinct features of the disease are discussed, specially those concerning the genetic mode of inheritance and consanguinity, the etiopathogenic, pathophysiology, clinical, laboratory, prognosis and treatment, with particular reference to the radiological and hematologic problems related with this metabolic disorder. PMID:911441

Mallet Arellano, A; Pinto Avila, L R; Chávez Abrego, M I; Gutiérrez Romero, M; Espinoza Morett, A; Medellín, E

1977-01-01

14

Osteopetrosis and total hip arthroplasty  

Microsoft Academic Search

Summary. Two patients with osteopetrosis and osteoarthrosis of the hip underwent “hybrid” total hip replacement. There are technical\\u000a difficulties in seating acetabular and femoral components on hard and brittle osteopetrotic bone with an obliterated marrow\\u000a cavity. Although the surgical procedures are challenging, this form of arthroplasty is recommended for hip osteoarthrosis\\u000a which is associated with osteopetrosis.\\u000a   

T. Matsuno; N. Katayama

1998-01-01

15

[Acute catatonia and neuroleptic malignant syndrome. A case of infantile psychosis].  

PubMed

Similar clinical and biological features in lethal catatonia (LC) and neuroleptic malignant syndrome (NMS) suggest a relationship between both affections and common physiopathologic mechanisms. Pharmacological effects of several drugs--dopaminergic agonists, benzodiazepines, carbamazepine--suggest an impairment of several systems of neurotransmitters. We report the case of a young woman with infantile psychosis who developed catatonic syndrome worsened by neuroleptic treatment, arising the problem of the chronology of both affections. The evolution with treatment may partially explain the physiopathology. A 18-year old woman with an history of infantile psychosis, experienced insomnia, anorexia, paradoxical agitation developed after affective traumatism (mother's hospitalization). Chlorazepate (150 mg) remained inefficient and hospitalization was necessary. The patient was dumb, prostate in bed. She presented negativism, rigidity of the four limbs, catalepsia and hyperpyrexia (38.5 degrees C). Hepatic transaminases were increased (SGOT: 71 UI/l; N < 30). After cumulated dose of levomepromazine (100 mg) profuse sudation, thermic and cardiovascular instability, alteration of consciousness, major rigidity of limbs appeared. (Blood) hepatic transaminases and muscular enzymes increased. Bacteriological samples, cerebrospinal fluid analysis, CT-scan and EEG were normal. Within 48 hours after rehydratation and bromocriptine (30 mg per day) alteration of consciousness and autonomic disorders decreased but hyperpyrexia (38 degrees C) persisted. Biological parameters were normalized 10 days later. Negativism and psychomotor inertia remained. Lorazepam (3 mg per day) failed to be clinically beneficial. On carbamazepine (600 mg per day) she started speaking and moving spontaneously. Catalepsia disappeared but rigidity and anorexia persisted. Electroconvulsivotherapy (ECT) was necessary. After 2 shocks she started standing up, walking, taking food and speaking fluently.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:7916282

Revuelta, E; Bordet, R; Piquet, T; Ghawche, F; Destee, A; Goudemand, M

1994-01-01

16

HEREDITARY OSTEOPETROSIS OF THE RABBIT  

PubMed Central

The results of x-ray, hematologic, and chemical studies on cases of hereditary osteopetrosis of the rabbit are described and the resemblance of the findings to those of the severe juvenile form of human osteopetrosis is pointed out. The outstanding feature of the x-ray examinations was the homogeneous dense appearance of the entire skeleton. This condition was present at birth. In older cases there was evidence of some differentiation of bone structure. The hematologic studies showed that the disease was characterized by the development of a macrocytic anemia, thrombocytopenia, and a moderate myeloid leucocytosis. Other abnormal findings included high reticulocyte and normoblast counts, anisocytosis and poikllocytosis, and degenerative changes of the neutrophiles and lymphocytes. The chemical studies showed very low serum calcium values; serum phosphorus values were low during the first 4 weeks of life but were somewhat higher than normal levels in older cases. The serum phosphatase values were elevated. The blood sugar content was generally low. The blood cholesterol values were generally high. The liver glycogen values were small especially in older cases and those for muscle glycogen were somewhat smaller than normal values. PMID:18103398

Pearce, Louise

1948-01-01

17

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

PubMed Central

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

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

2014-01-01

18

Infantile Spasms  

MedlinePLUS

NINDS Infantile Spasms Information Page Synonym(s): West Syndrome Table of Contents (click to jump to sections) What are Infantile Spasms? Is there any treatment? What is the prognosis? What research ...

19

Osteopetrosis of the mandible masquerading as tubercular osteomyelitis  

PubMed Central

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

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

2013-01-01

20

Administration of general anaesthesia to a paediatric patient with osteopetrosis  

PubMed Central

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

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

2012-01-01

21

[Autonomic infantilism].  

PubMed

In the middle of the last century the term od infantilism was introduced in medical terminology denoting the retardation in physical and/or psychic development with the features characteristic of childhood and adolescent age. From that time on, numerous authors have described various forms of retardation in the development and psychic infantilism in various aspects has been put in the first place, such as: dysharmonious, organic, cerebrostenic, neuropathic, dysproportional, endocrine and others. The retardation in the development of the vegetative nervous system was defined as a special form of infantilism by I. Popov in 1976 who suggested the term "vegetative infantilism". Conception of the idea of vegetative infantilism has made the theoretic basis for the whole range of very heterogenous appearances in the developing age being manifested as the sequal of the retardation in the development of vegetative nervous system, such as: affective respiratory spasms, encopresis, urination in sleeping (enuresis nocturna), urination at an awakening stage (enuresis diurna), various disturbances in the function of the cardiovascular system, digestive tract and others. PMID:2474747

Popov, I

1989-01-01

22

Cáncer infantil: Tratamiento  

Cancer.gov

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

23

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

PubMed Central

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

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

2013-01-01

24

A deletion mutation in bovine SLC4A2 is associated with osteopetrosis in Red Angus cattle  

Microsoft Academic Search

BACKGROUND: Osteopetrosis is a skeletal disorder of humans and animals characterized by the formation of overly dense bones, 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 of the dam, or inherited as a recessive defect. Genetically affected calves are typically aborted late in

Stacey N Meyers; Tara G McDaneld; Shannon L Swist; Brandy M Marron; David J Steffen; Donal O'Toole; Jeffrey R O'Connell; Jonathan E Beever; Tad S Sonstegard; Timothy PL Smith

2010-01-01

25

Rapid skeletal turnover in a radiographic mimic of osteopetrosis.  

PubMed

Among the high bone mass disorders, the osteopetroses reflect osteoclast failure that prevents skeletal resorption and turnover, leading to reduced bone growth and modeling and characteristic histopathological and radiographic findings. We report an 11-year-old boy with a new syndrome that radiographically mimics osteopetrosis (OPT), but features rapid skeletal turnover. He presented at age 21 months with a parasellar, osteoclast-rich giant cell granuloma. Radiographs showed a dense skull, generalized osteosclerosis and cortical thickening, medullary cavity narrowing, and diminished modeling of tubular bones. His serum alkaline phosphatase was >5000 IU/L (normal <850 IU/L). After partial resection, the granuloma re-grew but then regressed and stabilized during 3 years of uncomplicated pamidronate treatment. His hyperphosphatasemia transiently diminished, but all bone turnover markers, especially those of apposition, remained elevated. Two years after pamidronate therapy stopped, bone mineral density (BMD) Z-scores reached +9.1 and +5.8 in the lumbar spine and hip, respectively, and iliac crest histopathology confirmed rapid bone remodeling. Serum multiplex biomarker profiling was striking for low sclerostin. Mutation analysis was negative for activation of lipoprotein receptor-related protein 4 (LRP4), LRP5, or TGF?1, and for defective sclerostin (SOST), osteoprotegerin (OPG), RANKL, RANK, SQSTM1, or sFRP1. Microarray showed no notable copy number variation. Studies of his nonconsanguineous parents were unremarkable. The etiology and pathogenesis of this unique syndrome are unknown. © 2014 American Society for Bone and Mineral Research. PMID:24919763

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

2014-12-01

26

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

ClinicalTrials.gov

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

2014-07-18

27

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

Microsoft Academic Search

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

L M Dorantes; A M Mejia; S Dorantes

1986-01-01

28

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

PubMed

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

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

2014-08-01

29

Propranolol for infantile hemangiomas.  

PubMed

Propranolol has been used successfully in a limited number of children with infantile hemangiomas. This multicenter retrospective study describes the efficacy and adverse effects of propranolol in infantile hemangioma. Seventy-one infants with infantile hemangiomas were treated with oral propranolol, 1 mg/kg/12 hours, for at least 12 weeks. A photograph based severity scoring assessment was performed by five observers to evaluate efficacy, utilizing a scoring system of 10 as the original infantile hemangioma before treatment and 0 as completely normal skin. The mean of the five independent measurements was used in the analysis. Propranolol was a rapid and effective treatment for infantile hemangiomas at 4 weeks (p < 0.001), at 8 weeks (p < 0.001 compared to the 4 wks value), at 12 weeks (p < 0.05 compared to the 8 wks value), and thereafter up to 32 weeks (p < 0.01 compared to the 16 wks value). The response of infantile hemangiomas to propranolol was similar regardless of sex, age at onset of treatment, type of involvement (segmental and nonsegmental), facial segments affected, special locations (eyelid, nasal tip, and parotid region), ulceration, and depth of infantile hemangiomas. Very few side effects were reported; mainly agitated sleep in 10 of 71 patients. In the series of patients in this study, oral propranolol 2 mg/kg/day was a well-tolerated and effective treatment for infantile hemangiomas. Prospective studies are needed to establish the exact role of propranolol in the treatment of infantile hemangiomas. PMID:21385205

Bagazgoitia, Lorea; Torrelo, Antonio; Gutiérrez, Juan Carlos López; Hernández-Martín, Angela; Luna, Paula; Gutiérrez, Marta; Baño, Antonio; Tamariz, Amalia; Larralde, Margarita; Alvarez, Roser; Pardo, Nuria; Baselga, Eulalia

2011-01-01

30

Unexplained anaemia and failure to thrive as initial symptoms of infantile choriocarcinoma: a review  

Microsoft Academic Search

Infantile choriocarcinoma is a highly malignant germ cell tumour sub-entity thought to originate from the placenta. The aim of this review is to alert clinicians to clinical symptoms and course of neonatal\\/infantile choriocarcinoma in order to improve the prognosis of affected children by early diagnosis and appropriate treatment. The clinical details of all 30 cases according to a Medline literature

Martin E. G. Blohm; Ulrich Göbel

2004-01-01

31

An Infant with Splenohepatomegaly: A Rare Cause  

PubMed Central

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

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

2014-01-01

32

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

PubMed Central

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

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

2009-01-01

33

Management of proximal femoral shaft fractures in osteopetrosis: a case series using internal fixation.  

PubMed

Osteopetrosis is a group of rare sclerosing bone dysplasias. Orthopedic concerns in osteopetrosis are principally related to the characteristic brittle "marble bone" in which fractures may be easily induced by relatively low-energy mechanisms. Femoral fractures are common in this patient population, and management presents a unique technical challenge. While osteopetrotic bone may be penetrated with a drill bit, the drill bit flutes are immediately filled with bone. This renders the drill ineffective, and generation of significant frictional heat can result in breakage of the drill. This case series describes the long-term management of nine osteopetrotic femoral fractures in three patients. The difficulties encountered in these cases prompted the development of a safe and efficacious technique for intramedullary fixation of these fractures. PMID:16138472

Chhabra, Anikar; Westerlund, L Erik; Kline, Alex J; McLaughlin, Robert

2005-06-01

34

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

Microsoft Academic Search

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

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

1990-01-01

35

Instantánea del cáncer infantil  

Cancer.gov

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

36

Genetics of bone diseases: Paget's disease, fibrous dysplasia, osteopetrosis, and osteogenesis imperfecta.  

PubMed

Over the last few years, research into the genetics of bone diseases has produced new insights into the pathophysiology of bone remodeling. The identification of SQSTM1 mutations in Paget's disease of bone established that osteoclast activation involved both binding to ubiquitin and the proteasome pathway. However, murine models fail to replicate the full phenotype, and somatic SQSTM1 mutations have been identified, suggesting a role for complex mechanisms. In patients with fibrous dysplasia of bone, postzygotic somatic mutations in the GNAS gene are now well documented. Technological advances have improved the detection of somatic mutations in peripheral blood cells. Osteopetrosis is characterized by increased bone density due to deficient osteoclastic bone resorption. Most of the genes involved in the various clinical patterns of osteopetrosis have been identified. The identification of LRP5 gain-of-function mutations in autosomal dominant osteopetrosis type I prompted a revision of the classification scheme, and this form is now being included among the high-bone-mass diseases. Osteogenesis imperfecta is characterized by an inherited abnormality in bone formation that manifests as osteopenia with increased bone fragility. Mutations in the COL1A1 and COL1A2 genes are found in over 90% of patients. The recent identification of mutations in the CRTAP, LEPRE1, and PPIB genes in recessive forms has radically changed the classification of osteogenesis imperfecta and generated new pathophysiological hypotheses. PMID:20855225

Michou, Laetitia; Brown, Jacques P

2011-05-01

37

Transumbilical laparoscopic treatment of Congenital Infantile Fibrosarcoma of the Ileum.  

PubMed

Congenital-Infantile Fibrosarcoma (CIF) is a malignant mesenchymal tumor representing 10-20% of soft-tissue tumors. Complete surgical resection is generally the treatment of choice. The most recurrent cytogenetic abnormality was identified as the traslocation t(12;15)(p13:q25), which bears the fusion of Tel gene EVT6 with TrkC gene. This study describes a case of infantile fibrosarcoma of the ileum in a female newborn examined for intestinal occlusion and its laparoscopic treatment. PMID:25573709

Scirè, G; Mantovani, A; Zampieri, N; Guerriero, V A; Segala, D; Pecori, S; Bruno, C; Camoglio, F S

2014-01-01

38

Mixed-sclerosing-bone-dystrophy: 42-year follow-up of a case reported as osteopetrosis  

Microsoft Academic Search

Summary  We present a detailed metabolic investigation and 42-year radiological follow-up of a 52-year-old man with mixed-sclerosing-bone-dystrophy,\\u000a the rare occurrence of two or more distinct patterns of sclerosing-bone-dysplasia (e.g., osteopathia striata, osteopoikilosis,\\u000a melorheostosis) in a single subject. Review of radiographs from 1942, when he was reported to have osteopetrosis, demonstrated\\u000a diffuse osteosclerosis, osteopathia striata, osteopoikilosis, and focal cortical hyperostosis. Forty-two years

Roberto Pacifici; William A. Murphy; Steven L. Teitelbaum; Michael P. Whyte

1986-01-01

39

Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections.  

PubMed

Osteopetrosis, lymphedema, hypohidrotic ectodermal dysplasia, and immunodeficiency (OL-HED-ID) is a rare X-linked disorder with only three reported prior cases in the English-language literature. We describe a case of OL-HED-ID in a male infant who initially presented with congenital lymphedema, leukocytosis, and thrombocytopenia of unknown etiology at 7 days of age. He subsequently developed gram-negative sepsis and multiple opportunistic infections including high-level cytomegalovirus viremia and Pneumocystis jiroveci pneumonia. The infant was noted to have mildly xerotic skin, fine sparse hair, and periorbital wrinkling, all features suggestive of ectodermal dysplasia. Skeletal imaging showed findings consistent with osteopetrosis, and immunologic investigation revealed hypogammaglobulinemia and mixed T- and B-cell dysfunction. Genetic testing revealed a novel mutation in the nuclear factor kappa beta (NF-KB) essential modulator (NEMO) gene, confirming the diagnosis of OL-HED-ID. Mutations in the NEMO gene have been reported in association with hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID), OL-HED-ID, and incontinentia pigmenti. In this case, we report a novel mutation in the NEMO gene associated with OL-HED-ID. This article highlights the dermatologic manifestations of a rare disorder, OL-HED-ID, and underscores the importance of early recognition and prompt intervention to prevent life-threatening infections. PMID:23405946

Carlberg, Valerie M; Lofgren, Sabra M; Mann, Julianne A; Austin, Jared P; Nolt, Dawn; Shereck, Evan B; Davila-Saldana, Blachy; Zonana, Jonathan; Krol, Alfons L

2014-11-01

40

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

PubMed Central

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

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

2009-01-01

41

Infantile Refsum Disease: Case Report  

Microsoft Academic Search

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

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

42

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

PubMed Central

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

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

2013-01-01

43

Structure of human SNX10 reveals insights into its role in human autosomal recessive osteopetrosis.  

PubMed

Sorting nexin 10 (SNX10), the unique member of the SNX family having vacuolation activity in cells, was shown to be involved in the development of autosomal recessive osteopetrosis (ARO) in recent genetic studies. However, the molecular mechanism of the disease-related mutations affecting the biological function of SNX10 is unclear. Here, we report the crystal structure of human SNX10 to 2.6 Å resolution. The structure reveals that SNX10 contains the extended phox-homology domain we previously proposed. Our study provides the structural details of those disease-related mutations. Combined with the vacuolation study of those mutations, we found that Tyr32 and Arg51 are important for the protein stability and both play a critical role in vacuolation activity, while Arg16Leu may affect the function of SNX10 in osteoclast through protein-protein interactions. PMID:25212774

Xu, Tingting; Xu, Jinxin; Ye, Yinghua; Wang, Qi; Shu, Xiaodong; Pei, Duanqing; Liu, Jinsong

2014-12-01

44

Autosomal Dominant Type I Osteopetrosis Is Related with Iatrogenic Fractures in Arthroplasty  

PubMed Central

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

van Hove, Ruud P.; de Jong, Tjitte

2014-01-01

45

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

PubMed

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

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

2014-12-01

46

Intracranial infantile hemangiopericytoma.  

PubMed

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

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

2014-08-01

47

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

PubMed

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

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

2009-12-01

48

Infantile subglottic hemangioma.  

PubMed

Infantile subglottic hemangiomas are rare congenital lesions of the larynx that are difficult to manage. Our experience with 10 cases was reviewed. All patients presented with stridor at birth, or shortly after. The minimum follow-up was 6 months, with an average of 44 months. The patients were classified and treated according to the size of the hemangioma. The treatment included expectant management, systemic steroids, CO2 laser excision, and tracheostomies. Overall, eight patients were cured, one developed subglottic stenosis, and one died due to unrelated causes. We recommend that (1) patients with small lesions (< 25% of lumen) be treated expectantly, (2) patients with moderate lesions (25-60% of lumen) be treated with systemic steroids initially, and CO2 laser excision if steroids fail, and (3) patients with large lesions (> 60% of lumen) be treated with tracheostomies initially, and staged CO2 laser excision. PMID:8028072

Seikaly, H; Cuyler, J P

1994-04-01

49

Fetal growth and infantile colic  

PubMed Central

AIM—To describe how fetal growth and gestational age affect infantile colic, while considering other potential risk factors.?STUDY DESIGN—A population based follow up study of 2035 healthy singleton infants without any disability born to Danish mothers. Information was collected by self administered questionnaires at 16 and 30weeks of gestation, at delivery, and 8 months post partum. Infantile colic is defined according to Wessel's criteria, but symptoms are restricted to crying for more than three hours a day, for more than three days a week, and for more than three weeks.?RESULTS—The cumulated incidence of infantile colic was 10.9%. Low birth weight babies (< 2500 g) had more than twice the risk (odds ratio = 2.7, 95% confidence interval 1.2 to 6.1) of infantile colic when controlled for gestational age, maternal height, and smoking.?CONCLUSION—Low birth weight may be associated with infantile colic, and further research will be aimed to focus on fetal growth and infantile colic.?? PMID:10873171

Sondergaard, C.; Skajaa, E.; Henriksen, T. B.

2000-01-01

50

Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis.  

PubMed

Autosomal-recessive osteopetrosis is a severe genetic disease caused by osteoclast failure. Approximately 50% of the patients harbor mutations of the ATP6i gene, encoding for the osteoclast-specific a3 subunit of V-ATPase. We found inactivating ATP6i mutations in four patients, and three of these were novel. Patients shared macrocephaly, growth retardation and optic nerve alteration, osteosclerotic and endobone patterns, and high alkaline phosphatase and parathyroid hormone levels. Bone biopsies revealed primary spongiosa lined with active osteoblasts and high numbers of tartrate-resistant acid phosphatase (TRAP)-positive, a3 subunit-negative, morphologically unremarkable osteoclasts, some of which located in shallow Howship lacunae. Scarce hematopoietic cells and abundant fibrous tissue containing TRAP-positive putative osteoclast precursors were noted. In vitro osteoclasts were a3-negative, morphologically normal, with prominent clear zones and actin rings, and TRAP activity more elevated than in control patients. Podosomes, alphaVbeta3 receptor, c-Src, and PYK2 were unremarkable. Consistent with the finding in the bone biopsies, these cells excavated pits faintly stained with toluidine blue, indicating inefficient bone resorption. Bone marrow transplantation was successful in all patients, and posttransplant osteoclasts showed rescue of a3 subunit immunoreactivity. PMID:12507890

Taranta, Anna; Migliaccio, Silvia; Recchia, Irene; Caniglia, Maurizio; Luciani, Matteo; De Rossi, Giulio; Dionisi-Vici, Carlo; Pinto, Rita M; Francalanci, Paola; Boldrini, Renata; Lanino, Edoardo; Dini, Giorgio; Morreale, Giuseppe; Ralston, Stuart H; Villa, Anna; Vezzoni, Paolo; Del Principe, Domenico; Cassiani, Flaminia; Palumbo, Giuseppe; Teti, Anna

2003-01-01

51

Genotype-Phenotype Relationship in Human ATP6i-Dependent Autosomal Recessive Osteopetrosis  

PubMed Central

Autosomal-recessive osteopetrosis is a severe genetic disease caused by osteoclast failure. Approximately 50% of the patients harbor mutations of the ATP6i gene, encoding for the osteoclast-specific a3 subunit of V-ATPase. We found inactivating ATP6i mutations in four patients, and three of these were novel. Patients shared macrocephaly, growth retardation and optic nerve alteration, osteosclerotic and endobone patterns, and high alkaline phosphatase and parathyroid hormone levels. Bone biopsies revealed primary spongiosa lined with active osteoblasts and high numbers of tartrate-resistant acid phosphatase (TRAP)-positive, a3 subunit-negative, morphologically unremarkable osteoclasts, some of which located in shallow Howship lacunae. Scarce hematopoietic cells and abundant fibrous tissue containing TRAP-positive putative osteoclast precursors were noted. In vitro osteoclasts were a3-negative, morphologically normal, with prominent clear zones and actin rings, and TRAP activity more elevated than in control patients. Podosomes, ?V?3 receptor, c-Src, and PYK2 were unremarkable. Consistent with the finding in the bone biopsies, these cells excavated pits faintly stained with toluidine blue, indicating inefficient bone resorption. Bone marrow transplantation was successful in all patients, and posttransplant osteoclasts showed rescue of a3 subunit immunoreactivity. PMID:12507890

Taranta, Anna; Migliaccio, Silvia; Recchia, Irene; Caniglia, Maurizio; Luciani, Matteo; De Rossi, Giulio; Dionisi-Vici, Carlo; Pinto, Rita M.; Francalanci, Paola; Boldrini, Renata; Lanino, Edoardo; Dini, Giorgio; Morreale, Giuseppe; Ralston, Stuart H.; Villa, Anna; Vezzoni, Paolo; Del Principe, Domenico; Cassiani, Flaminia; Palumbo, Giuseppe; Teti, Anna

2003-01-01

52

Biology of Infantile Hemangioma  

PubMed Central

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

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

2014-01-01

53

Modeling new therapies for infantile spasms  

PubMed Central

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

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

2010-01-01

54

Genetic influences and infantile autism  

Microsoft Academic Search

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

Susan Folstein; Michael Rutter

1977-01-01

55

Tratamiento actual del estreñimiento infantil  

Microsoft Academic Search

ResumenEl estreñimiento infantil es un problema mundial. Es una de las molestias más comunes que tienen que afrontar tanto los pediatras generales como los gastroenterólogos pediátricos. El tratamiento del estreñimiento crónico es problemático, a menudo exige un seguimiento a largo plazo y el uso de medicamentos. A pesar de su elevada frecuencia, se han realizado pocos ensayos aleatorizados para investigar

Olivia Liem; Carlo Di Lorenzo; Jan A. J. M Taminiau; Hayat M. Mousa; Marc A. Benninga

2007-01-01

56

Genetics Home Reference: X-linked infantile spasm syndrome  

MedlinePLUS

... Early infantile epileptic encephalopathy 2 Genetic Testing Registry: West syndrome Understanding Infantile Spasms by the Child Neurology Foundation ... encephalopathy infantile epileptic-dyskinetic encephalopathy ISSX X-linked West syndrome For more information about naming genetic conditions, see ...

57

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 ...

58

Infantile experience and play motivation  

Microsoft Academic Search

Fully-fledged affective systems in mature animals are in part the result of the impact of infantile experience on brain development. The present experimental series examines whether tactile stimulation in infancy (early handling) influences rough-and-tumble play (R&T) throughout the juvenile period, using a testing regime of 17 days divided into five parts where handled (H) and nonhandled (NH) Wistar rats are

Raúl Aguilar

2010-01-01

59

Infantile colic, facts and fiction  

PubMed Central

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

2012-01-01

60

Idiopathic infantile hypercalcaemia--a continuing enigma  

Microsoft Academic Search

Seventy six children with documented Fanconi-type idiopathic infantile hypercalcaemia were studied and compared with 41 with the Williams-Beuren syndrome. Clinical comparison showed, as expected, very close similarities but also considerable differences, particularly in the severity of feeding problems and the degree of failure to thrive. The estimated incidence of idiopathic infantile hypercalcaemia alone has remained constant for the past 20

Ndt Martin; Gjai Snodgrass; R D Cohen

1984-01-01

61

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 ...

62

Early Infantile Autism and Autistic Psychopathy  

ERIC Educational Resources Information Center

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)

Van Krevelen, D. Arn

1971-01-01

63

Genetics Home Reference: Infantile systemic hyalinosis  

MedlinePLUS

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

64

SURGICAL TREATMENT OF INFANTILE HYDROCEPHALUS  

PubMed Central

The operation of endoscopic coagulation of the choroid plexuses for the relief of infantile hydrocephalus is now 18 years old. Nearly a hundred cases have been reported and the indications and procedure are well standardized. Several patients have grown up apparently normally from the earliest series of operations. In a recent series of 20 operations performed on ten patients in the past ten years, there have been no deaths attributable to the procedure. The operation has substantially decreased the pressure in all cases, and has brought it within normal limits in all cases in which it was performed before the head became grossly enlarged. The mentality has improved following relief of pressure in all cases. When the operation was performed before deterioration began, the results were uniformly excellent. ImagesFigure 1.Figure 2.Figure 3. PMID:13009515

Putnam, Tracy J.

1953-01-01

65

Infantile myofibromatosis: report of nine patients.  

PubMed

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

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

2010-01-01

66

Surgical treatment of infantile subglottic hemangioma.  

PubMed

Three cases of infantile subglottic hemangioma are described. Generally conservative management is favored by most authors. These present lesions were removed surgically by midline cricotracheotomy. Follow-up showed that all children were well and without complaints. The authors believe that besides management with the CO2 laser and short-term steroid therapy, operative treatment of infantile subglottic hemangioma is a valuable alternative which should receive more attention. All children were decannulated a few days after surgery. PMID:2707979

Mulder, J J; van den Broek, P

1989-02-01

67

Genetics Home Reference: Infantile-onset ascending hereditary spastic paralysis  

MedlinePLUS

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

68

Genetics Home Reference: Late-infantile neuronal ceroid lipofuscinosis  

MedlinePLUS

... late-infantile neuronal ceroid lipofuscinosis? Mutations in the TPP1 gene cause most cases of late-infantile NCL. ... account for a small percentage of cases. The TPP1 gene produces an enzyme called tripeptidyl peptidase 1. ...

69

Spontaneous Remission of Solitary-Type Infantile Myofibromatosis  

Microsoft Academic Search

Infantile myofibromatosis is a rare fibrous tumor of infancy. The cutaneous solitary type has typically an excellent prognosis. However, histologically, it is important to rule out leiomyosarcoma, which has a poor prognosis. The low frequency of mitosis was definitive for a diagnosis of infantile myofibromatosis. We present a cutaneous solitary-type case of infantile myofibromatosis. Following incisional biopsy, the tumor remitted

Kazuhiro Kikuchi; Riichiro Abe; Satoru Shinkuma; Erika Hamasaka; Ken Natsuga; Hiroo Hata; Yasuki Tateishi; Masahiko Shibata; Yuki Tomita; Yukiko Abe; Satoru Aoyagi; Makio Mukai; Hiroshi Shimizu

2011-01-01

70

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

PubMed Central

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

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

71

Infantile myofibromatosis of the central nervous system  

Microsoft Academic Search

Background Infantile myofibromatosis is the most common fibrous disorder of infancy and childhood. It may occur in two distinct forms: multicentric and solitary. In both cases involvement of the central nervous system (CNS) is unusual: brain myofibromas are usually intracranial in proximity of the dura mater, with infiltration of the calvarial bones and secondary brain compression. Spine myofibromas are exceptional

G. Tamburrini; M. Gessi; C. Colosimo; L. Lauriola; F. Giangaspero; C. Di Rocco

2003-01-01

72

Early infantile autism and autistic psychopathy  

Microsoft Academic Search

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

D. Arn Van Krevelen

1971-01-01

73

Hypsarrhythmia and infantile autism: A clinical report  

Microsoft Academic Search

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

Lawrence T. Taft; Herbert J. Cohen

1971-01-01

74

ASPECTOS DA CORTESIA VERBAL NO DISCURSO INFANTIL  

Microsoft Academic Search

RESUMO . Neste trabalho, refletiremos sobre a questão da cortesia verbal (ou polidez linguística) no discurso infantil, inspirando-nos nos estudos de Brown e Levinson (1987), que retomam e ampliam a conceituação de face proposta por Goffman (1970). Para o sociólogo americano, a face pode ser entendida como o valor social positivo que uma pessoa reivindica para si. Assim, Brown e

Giovanna Wrubel Brants

75

Spontaneous remission of solitary-type infantile myofibromatosis.  

PubMed

Infantile myofibromatosis is a rare fibrous tumor of infancy. The cutaneous solitary type has typically an excellent prognosis. However, histologically, it is important to rule out leiomyosarcoma, which has a poor prognosis. The low frequency of mitosis was definitive for a diagnosis of infantile myofibromatosis. We present a cutaneous solitary-type case of infantile myofibromatosis. Following incisional biopsy, the tumor remitted spontaneously. PMID:21941483

Kikuchi, Kazuhiro; Abe, Riichiro; Shinkuma, Satoru; Hamasaka, Erika; Natsuga, Ken; Hata, Hiroo; Tateishi, Yasuki; Shibata, Masahiko; Tomita, Yuki; Abe, Yukiko; Aoyagi, Satoru; Mukai, Makio; Shimizu, Hiroshi

2011-05-01

76

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

PubMed Central

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

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

2012-01-01

77

Malignant teratoma (image)  

MedlinePLUS

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

78

Potential biochemical markers for infantile autism  

Microsoft Academic Search

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

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

1986-01-01

79

Malignant penile horn.  

PubMed

The fifth case of carcinoma within a penile horn is reported in a patient who also had erythroplasia of Queyrat of the glans penis. Penile horns should be considered as pre-malignant lesions, since a third of them undergo malignant change and they may be associated with a pre-malignant condition of the glans penis. PMID:926252

Raghavaiah, N V; Soloway, M S; Murphy, W M

1977-12-01

80

Anogenital malignancies and pre-malignancies.  

PubMed

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

Henquet, C J M

2011-08-01

81

Congenital and Infantile Nephrotic Syndrome in Thai Infants  

Microsoft Academic Search

Congenital and infantile nephrotic syndrome reported from the Eastern world is rare and might be a different entity from that in the West. In a retrospective review of 10 nephrotic syndrome in Thai infants (5 girls and 5 boys), 7 were diagnosed with congenital nephrotic syndrome and 3 with infantile nephrotic syndrome. Two had congenital nephrotic syndrome secondary to congenital

Prayong Vachvanichsanong; Winyou Mitarnun; Kobkul Tungsinmunkong; Pornsak Dissaneewate

2005-01-01

82

CSF B-Endorphin Levels in Patients with Infantile Autism.  

ERIC Educational Resources Information Center

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)

Nagamitsu, Shinichiro; And Others

1997-01-01

83

The Epidemiology and Natural History of Infantile Spasms  

Microsoft Academic Search

Few population-based studies of infantile spasms have been done, and most reports have not included comparison groups. In spite of these limitations, this review attempts to summarize what is known about the distribution, etiology, and natural history of infantile spasms in populations; discusses the limitations of current data; and includes suggestions for further population-based research. Most estimates of the incidence

Linda D. Cowan; Leslie S. Hudson

1991-01-01

84

Probiotics for infantile colic: a systematic review  

PubMed Central

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

2013-01-01

85

Looking for new treatments of Infantile Colic.  

PubMed

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

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

2014-01-01

86

Propranolol treatment of infantile hemangioma endothelial cells: A molecular analysis  

PubMed Central

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

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

87

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

PubMed Central

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

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

2013-01-01

88

Hypercalcemia of Malignancy  

Microsoft Academic Search

Prevalence Hypercalcemia is one of the most common metabolic complications of malignancy, developing in 3?30% of patients with cancer at some time during the course of their disease. Indeed malignancy is the most frequent cause of hypercalcemia in a general hospital patient population, whereas primary hyperparathyroidism is a more common cause of elevated blood calcium in the community at large.

Vivian Grill; T. John Martin

2000-01-01

89

POSTER PRESENTATION Open Access Infantile de novo primary antiphospholipid  

E-print Network

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

Paris-Sud XI, Université de

90

A MODEL OF SYMPTOMATIC INFANTILE SPASMS SYNDROME  

PubMed Central

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

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

2009-01-01

91

Vitamin D metabolites in idiopathic infantile hypercalcaemia.  

PubMed Central

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

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

1985-01-01

92

Dietary Management of Infantile Colic: A Systematic Review  

Microsoft Academic Search

Infantile colic, the cause of 10–20% of all early paediatrician visits, can lead to parental exhaustion and stress. A systematic\\u000a review was conducted to examine whether dietary change provides an effective therapy for infantile colic. Six databases were\\u000a searched from 1960, and 24 studies selected for inclusion. In breastfed infants, evidence suggests that a hypoallergenic maternal\\u000a diet may be beneficial

Marina Iacovou; Robin A. Ralston; Jane Muir; Karen Z. Walker; Helen Truby

93

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

Microsoft Academic Search

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

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

2008-01-01

94

Malignant Proliferating Trichilemmal Tumor  

PubMed Central

Proliferating trichilemmal tumor (PTT) is a benign tumor originating from the outer root sheath of a hair follicle. Malignant transformation in case of PTT is very rare and unusual finding. It is usually confused with squamous cell carcinoma both sharing many common features. So the identification of malignant PTT is very essential. Only 39 well-documented cases of malignant proliferating trichilemmal cyst have been published to date in the English language literature. We hereby present a case of a 75-year-old female patient with a rapidly growing swelling on the scalp. PMID:22470211

Goyal, Snigdha; Jain, Bhawna Bhutoria; Jana, Sritanu; Bhattacharya, Subodh K

2012-01-01

95

A genetic and biologic classification of infantile spasms  

PubMed Central

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

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

2011-01-01

96

Gynecologic malignancy in pregnancy  

PubMed Central

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

Ji, Yong Il

2013-01-01

97

Localized malignant mesothelioma.  

PubMed

Localized malignant mesotheliomas are uncommon sharply circumscribed tumors of the serosal membranes with the microscopic appearance of diffuse malignant mesothelioma but without any evidence of diffuse spread. Little is known about their behavior. We report 23 new cases. The mean age at presentation was 63 years, and the sex ratio was approximately 2:1 (male/female). Twenty-one tumors were pleural and 2 were peritoneal. Sixteen tumors reproduced microscopic patterns of diffuse epithelial mesotheliomas, 6 had mixed epithelial and sarcomatous patterns, and 1 was purely sarcomatous. After surgical excision of the tumor, 10 of 21 patients with follow-up data were alive without evidence of disease from 18 months to 11 years after diagnosis. Patients who died had developed local recurrences and metastases, but none had diffuse pleural spread. Localized malignant mesotheliomas should be separated from diffuse malignant mesotheliomas because of their localized presentation, quite different biologic behavior, and far better prognosis. PMID:15958850

Allen, Timothy Craig; Cagle, Philip T; Churg, Andrew M; Colby, Thomas V; Gibbs, Allen R; Hammar, Samuel P; Corson, Joseph M; Grimes, Margaret M; Ordonez, Nelson G; Roggli, Victor; Travis, William D; Wick, Mark R

2005-07-01

98

Gynecologic malignancies in adolescents.  

PubMed

Gynecologic malignancies are rare in the pediatric and adolescent populations. Given the potential consequence of infertility and the negative impact on body image that can result from the treatment of these cancers, clinicians must be aware of the most current recommendations for medical and surgical therapy of gynecologic malignancies in these patients. This article focuses on the most common gynecologic cancers in pediatric and adolescent girls, with a special emphasis on treatment that maintain fertility and positive body image. PMID:15625993

Stepanian, Marshall; Cohn, David E

2004-10-01

99

Thoracic Malignancy Steering Committee  

Cancer.gov

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

100

[Malignancy-associated myositis].  

PubMed

Inflammatory myopathies, also referred to as myositis, are a heterogeneous group of chronic inflammatory muscle diseases characterized by various clinical features and histological changes; in addition, patient with these disease exhibit positivity for autoantibodies as well as progressive inflammatory muscle damage and experienced weakness. Although it has been well known for a century that myositis, particularly dermatomyositis, can be associated with malignancy, it was not until recently that the result of robust epidemiological studies confirmed this association. Malignancy-associated myositis differs from primary myositis in many aspects. Prognosis and life expectancy for patients are determined on the basis of the underlying malignancy. Therefore, patient-specific examinations to detect an underlying cancer are important for the management of these patients. Recently, a novel myositis-specific autoantibody (anti-p155 or p155/p140 antibody) was identified in malignancy-associated myositis. The discovery of this autoantibody is important not only for an early diagnosis of adult-onset myositis patients with a higher risk of malignancy but also for a better understanding of the pathogenesis of paraneoplastic myositis. In addition, it has also been recently found that both regenerating cells in myositis muscles and several cancers known to be associated with myositis express high levels of myositis-specific autoantigens. Therefore, a model of paraneoplasia focusing on the expression of common autoantigens expression and immuno-targeting between cancer and muscle tissues in myositis has been proposed. In this review, we aim to describe epidemiological evidence for an association between myositis and malignancy, and to describe the clinical features of malignancy-associated myositis. We also aim to focus on a recently proposed model to understand the development of malignancy-associated myositis. PMID:20420184

Shimizu, Jun

2010-04-01

101

[Malignant nail tumors].  

PubMed

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

Haneke, E

2014-04-01

102

Malignant epithelial odontogenic tumors.  

PubMed

Malignant epithelial odontogenic tumors are very rare. They may arise from the epithelial components of the odontogenic apparatus. The rests of Malassez, the reduced enamel epithelium surrounding the crown of an impacted tooth, the rests of Serres in the gingiva, and the linings of odontogenic cysts represent the precursor cells for malignant transformation. Because metastatic carcinoma is the most common malignancy of the jaws, the diagnosis of a primary intraosseous carcinoma must always be made to the exclusion of metastatic disease. Odontogenic carcinomas include malignant (metastasizing) ameloblastoma, ameloblastic carcinoma, primary intraosseous squamous cell carcinoma, clear cell odontogenic carcinoma, and malignant epithelial ghost cell tumor. There are specific histopathologic features that support the diagnosis of a primary carcinoma of odontogenic epithelium which are presented in this article. Immunohistochemical (IHC) staining is important for distinguishing clear cell odontogenic carcinoma from metastatic renal cell tumors, yet IHC stains are not particularly helpful for other lesions in this group-all of which exhibit low molecular weight cytokeratin positivity. Aggressive growth and nodal and distant metastases occur with all of these entities. PMID:10587275

Eversole, L R

1999-11-01

103

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

PubMed Central

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

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

2010-01-01

104

Infantile amnesia: forgotten but not gone.  

PubMed

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 experiences on later physical, mental, and emotional functioning. This raises the question of how early memories can be so influential if they cannot be recalled. This review presents one potential solution to this paradox by considering what happens to an early memory after it has been forgotten. Specifically, we describe evidence showing that these forgotten early-acquired memories have not permanently decayed from storage. Instead, there appears to be a memory "trace" that persists in the face of forgetting which continues to affect a variety of behavioral responses later in life. Excitingly, the discovery of this physical trace will allow us to explore previously untestable issues in new ways, from whether forgetting is due to a failure in retrieval or storage to how memories can be recovered after extended periods of time. A greater understanding of the characteristics of this memory trace will provide novel insights into how some memories are left behind in childhood while others are carried with us, at least in some form, for a lifetime. PMID:24532837

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

2014-03-01

105

Role of connexins in infantile hemangiomas  

PubMed Central

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

Blanke, Katja; Dähnert, Ingo; Salameh, Aida

2013-01-01

106

Malignant peritoneal mesothelioma  

PubMed Central

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

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

2009-01-01

107

Surveillance for gastrointestinal malignancies  

PubMed Central

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

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

2012-01-01

108

Malignant myoepithelioma of palate  

PubMed Central

Malignant myoepithelioma is a rare salivary gland neoplasm, which accounts for less than 2% of all the salivary gland carcinomas. Majority of cases have been reported in parotid, and only 8 cases of involvement of the hard palate have been reported in the literature so far. Hereby, a case of painless, ulcerated palatal mass of 2 years of duration reported. A diagnosis of malignant plasmacytoid myoepithelioma was made with the aid of immunohistochemical analysis, and wide surgical excision was considered keeping in mind the biological behavior of the tumor. PMID:23293504

Richa; Ray, Jay Gopal; Mohanty, Sweta Pattanayak; Vibha

2012-01-01

109

Dietary management of infantile colic: a systematic review.  

PubMed

Infantile colic, the cause of 10-20% of all early paediatrician visits, can lead to parental exhaustion and stress. A systematic review was conducted to examine whether dietary change provides an effective therapy for infantile colic. Six databases were searched from 1960, and 24 studies selected for inclusion. In breastfed infants, evidence suggests that a hypoallergenic maternal diet may be beneficial for reducing symptoms of colic. In formula-fed infants, colic may improve after changing from a standard cow's milk formula to either a hydrolysed protein formula or a soy-based formula. Fibre-supplemented formulae had no effect. Removal of poorly digested carbohydrates from the infant's diet has promise, but additional clinical studies must be conducted before a recommendation can be made. Use of a universal definition to measure symptoms of infantile colic and consistent analysis of urine and faecal samples would improve the evidence in this area. PMID:21710185

Iacovou, Marina; Ralston, Robin A; Muir, Jane; Walker, Karen Z; Truby, Helen

2012-08-01

110

Treatment for Malignant Ascites  

Cancer.gov

In this trial, researchers will randomly assign patients with malignant ascites to receive either octreotide or a placebo once a month for up to two years. The investigators will see whether octreotide can delay, or even eliminate, the need for paracentesis and assess side effects and quality of life of patients undergoing this treatment.

111

Malignant tumors of childhood  

SciTech Connect

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

Brooks, B.J.

1986-01-01

112

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

PubMed Central

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

Khan, Sarah N.; Sepahdari, Ali R.

2012-01-01

113

The genetic landscape of infantile spasms.  

PubMed

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

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

114

Treatment Option Overview (Malignant Mesothelioma)  

MedlinePLUS

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

115

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

PubMed

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

Yilmaz, L; Dangoisse, C; Semaille, P

2013-01-01

116

Clinical spectrum of infantile scimitar syndrome: A tertiary center experience  

PubMed Central

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

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

2014-01-01

117

Polygraphic Study during Whole Night Sleep in Infantile Spasms  

Microsoft Academic Search

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

Yukio Fukuyama; Atsuko Shionaga; Yoko Iida

1979-01-01

118

A Review of Infantile and PediatricAcne  

Microsoft Academic Search

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

Anne W. Lucky

1998-01-01

119

Resolution of severe cardiomyopathy in infantile Pompe disease.  

PubMed

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

Parent, John J; Schamberger, Marcus

2015-01-01

120

Part One: Infantile Spasms--The New Consensus  

ERIC Educational Resources Information Center

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

Pellock, John

2011-01-01

121

Multipotential stem cells recapitulate human infantile hemangioma in immunodeficient mice  

PubMed Central

Infantile hemangioma is a benign endothelial tumor composed of disorganized blood vessels. It exhibits a unique life cycle of rapid postnatal growth followed by slow regression to a fibrofatty residuum. Here, we have reported the isolation of multipotential stem cells from hemangioma tissue that give rise to hemangioma-like lesions in immunodeficient mice. Cells were isolated based on expression of the stem cell marker CD133 and expanded from single cells as clonal populations. The CD133-selected cells generated human blood vessels 7 days after implantation in immunodeficient mice. Cell retrieval experiments showed the cells could again form vessels when transplanted into secondary recipients. The human vessels expressed GLUT-1 and merosin, immunodiagnostic markers for infantile hemangioma. Two months after implantation, the number of blood vessels diminished and human adipocytes became evident. Lentiviral expression of GFP was used to confirm that the hemangioma-derived cells formed the blood vessels and adipocytes in the immunodeficient mice. Thus, when transplanted into immunodeficient mice, hemangioma-derived cells recapitulated the unique evolution of infantile hemangioma — the formation of blood vessels followed by involution to fatty tissue. In summary, this study identifies a stem cell as the cellular origin of infantile hemangioma and describes for what we believe is the first time an animal model for this common tumor of infancy. PMID:18535669

Khan, Zia A.; Boscolo, Elisa; Picard, Arnaud; Psutka, Sarah; Melero-Martin, Juan M.; Bartch, Tatianna C.; Mulliken, John B.; Bischoff, Joyce

2008-01-01

122

Infantile Spasms and Cytomegalovirus Infection: Antiviral and Antiepileptic Treatment  

ERIC Educational Resources Information Center

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

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

2007-01-01

123

The malignant social network  

PubMed Central

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

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

2012-01-01

124

Hyaluronan in human malignancies  

SciTech Connect

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

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

2011-02-15

125

Nicotinamide Phosphoribosyltransferase in Malignancy  

PubMed Central

Nicotinamide phosphoribosyltransferase (Nampt) catalyzes the rate-limiting step of nicotinamide adenine dinucleotide (NAD) synthesis. Both intracellular and extracellular Nampt (iNampt and eNampt) levels are increased in several human malignancies and some studies demonstrate increased iNampt in more aggressive/invasive tumors and in tumor metastases. Several different molecular targets have been identified that promote carcinogenesis following iNampt overexpression, including SirT1, CtBP, and PARP-1. Additionally, eNampt is elevated in several human cancers and is often associated with a higher tumor stage and worse prognoses. Here we review the roles of Nampt in malignancy, some of the known mechanisms by which it promotes carcinogenesis, and discuss the possibility of employing Nampt inhibitors in cancer treatment. PMID:24386506

Shackelford, Rodney E.; Mayhall, Kim; Maxwell, Nicole M.; Kandil, Emad

2013-01-01

126

Epigenetics in the hematologic malignancies  

PubMed Central

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

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

2014-01-01

127

Immunotherapy for malignant gliomas.  

PubMed

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

Bloch, Orin

2015-01-01

128

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

ERIC Educational Resources Information Center

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…

Foley, Megan

2012-01-01

129

Cutaneous Horn Malignant Melanoma  

PubMed Central

A 73-year-old Japanese woman presented with cutaneous horn on the right cheek. The resected tumor was 9 mm in diameter, with 14 mm protrusion, and showed exophytic growth with marked papillomatosis. Histopathology showed proliferation of atypical melanocytes with melanin pigments in the epidermis and dermis under the cutaneous horn. These cells were confined to the base of the cutaneous horn, and did not spread to the surrounding epidermis. The final diagnosis was cutaneous horn malignant melanoma. This pathological entity is considered a specific form of verrucous melanoma, and might be added to the list of cutaneous horn-forming lesions. PMID:25386322

Daa, Tsutomu; Kashima, Kenji; Arakane, Motoki; Shimada, Hiromitsu; Goto, Mizuki; Kai, Yoshitaka; Hatano, Yutaka; Okamoto, Osamu; Yokoyama, Shigeo

2013-01-01

130

Congenital uveal malignant melanoma.  

PubMed

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

Pukrushpan, Parnchat; Tulvatana, Wasee; Pittayapongpat, Rosana

2014-04-01

131

Imaging of gastrointestinal malignancies.  

PubMed

Many advancements in the imaging of gastrointestinal malignancies have been seen in the past year. Endorectal ultrasound and magnetic resonance imaging with an endorectal surface coil allow for more accurate staging of the depth of bowel wall invasion by rectal carcinoma. Monoclonal antibody imaging may detect metastases not found by other modalities while computed tomography arterial portography and intraoperative ultrasound improve our ability to identify liver metastases. Endoscopic ultrasound is also useful in the preoperative assessment of esophageal cancer and pancreatic endocrine tumors. PMID:1511029

Trenkner, S W; Thompson, W M

1992-08-01

132

Management of paranasal sinus malignancy  

Microsoft Academic Search

Opinion statement Malignancies of the nasal cavity and paranasal sinuses represent a wide spectrum of histologies, tissues\\u000a of origin, and anatomic primary sites. The inherent difficulty in generalizing treatment approaches is obvious, given the\\u000a numerous variables associated with the broadly-based term, paranasal sinus malignancy (PNSCa). Nevertheless, the majority\\u000a of epithelial and salivary malignancies of this region (ie, squamous cell carcinoma,

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

2005-01-01

133

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

PubMed Central

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

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

2012-01-01

134

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

PubMed Central

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

van der Waal, Isaäc

2014-01-01

135

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

PubMed Central

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

Yasuda, Hiroshi; Tsutsui, Toyoharu

2013-01-01

136

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

PubMed Central

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

2013-01-01

137

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

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

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

138

Rheumatic manifestations of malignancy.  

PubMed

The rheumatic associations of cancer therapy are highlighted in this review. Interleukin-2, interferon alfa, and Calmette-Guérin bacillus immunotherapies are related to an inflammatory arthritis, and septic arthritis can complicate breast-cancer therapy. In a large retrospective study, an increased incidence of cancer in systemic sclerosis was confirmed, especially lung and breast cancers. Lymphoproliferative associations of Sjögren's syndrome were explored in a study of non-Hodgkin's lymphoma patients in which clinical and histologic criteria were used to diagnose Sjögren's syndrome. B- and T-cell lymphomas continue to be reported with rheumatologic manifestations such as seronegative polyarthritis and sacroiliitis. Malignant angioendotheliomatosis, which mimics central nervous system vasculitis diseases, has been reported. Paraneoplastic associations of lung, ovarian, and renal-cell carcinomas are discussed. PMID:8031673

Conaghan, P G; Brooks, P M

1994-01-01

139

Neuroleptic Malignant Syndrome  

PubMed Central

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

Berman, Brian D.

2011-01-01

140

The malignant primate?  

PubMed

Speciation and carcinogenesis result from genomic instability at the gametic or at the somatic levels. After an infinity of trials they occur, by chromosome rearrangements, in single individuals or in single cells and evolve by similar chromosomal or clonal evolutions. Loss of heterozygosity for the first event is essential in both processes: in evolution, a chromosomal rearrangement, a pericentric inversion or a Robertsonian fusion, must become homozygous to ensure a reproductive barrier for a new species; Knudson's two-event sequence is a similar situation in cancer. Position effect is equally important: we have shown overexpression of the SOD1 gene in the orangutan phylum probably by an intrachromosomal rearrangement; the t(9;22) in CML acts by typical position effect. Parental imprinting underlies the evolution of genome function and the unset of certain cancers. Evolution and malignancy are interweaved by viruses and oncogenes since the dawn of life. Cancer uses its intelligence to expand and to destroy the other tissues, using subtle metabolic pathways and a variety of tricks to metastasize other cells. It always wins but saws the branch on which it sits. Mankind also grows exponentially, killing thousands of other species, poisoning the oceans and soft waters, polluting the atmosphere, all for his egoistic needs. Man also travels and metastasizes other Earths. He modifies his genome or that of other species, and develops new technologies for his reproduction. He can destroy the planet in an eyeblink. To be or not to be the malignant primate, that will be the dilemma for the 21st Century. PMID:1809219

de Grouchy, J

1991-01-01

141

Obstructing endobronchial malignant fibrous histiocytoma  

Microsoft Academic Search

A 58-year-old male patient admitted with malignant fibrous histiocytoma of the left mainstem. Rareness and unusual presentation of malignant fibrous histiocytoma and surgical management for lung salvage made its reporting worthwile. In this localization, prognostic characteristics are better than in the other localizations of lung and body.

Olgun Kadir Ariba?; Niyazi Görmü?

2001-01-01

142

Obstructing endobronchial malignant fibrous histiocytoma  

Microsoft Academic Search

A 58-year-old male patient admitted with malignant fibrous histiocytoma of the left mainstem. Rareness and unusual presentation of malignant fibrous histiocytoma and surgical management for lung salvage made its reporting worthwile. In this localization, prognostic characteristics are better than in the other localizations of lung and body. q 2001 Elsevier Science B.V. All rights reserved.

Olgun Kadir Aribas; Niyazi Gormus

143

Hematologic malignancies of the pancreas.  

PubMed

Hematologic malignancies are relatively uncommon neoplasms of abdominal soft tissue. This article discusses the clinical and imaging features of pancreatic lymphoma, pancreatic extraosseous multiple myeloma, granulocytic sarcoma (chloroma), posttransplant lymphoproliferative disorder, and Castleman disease. The combination of imaging findings and the appropriate clinical presentation should allow the radiologist to raise a provisional diagnosis of hematologic malignancy. PMID:25120155

Sandrasegaran, Kumar; Tomasian, Anderanik; Elsayes, Khaled M; Nageswaran, Harris; Shaaban, Akram; Shanbhogue, Alampady; Menias, Christine O

2015-02-01

144

Primary intrahepatic malignant epithelioid mesothelioma  

PubMed Central

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

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

2014-01-01

145

Malignant sigmoidoduodenal fistula  

PubMed Central

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

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

2014-01-01

146

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

PubMed

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

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

2015-02-01

147

Cutaneous metastatic malignant fibrous histiocytoma.  

PubMed

Malignant fibrous histiocytoma is the most common soft tissue sarcoma, but cutaneous metastasis of this tumor is quite rare. A 30-year-old female patient had several brownish 0.5 x 0.5-cm papules on her right ankle. Histopathologic examination revealed spindle-shaped tumor cells with cellular pleomorphism and high mitosis (5 of 10 high-power fields), suggestive of malignant fibrous histiocytoma. She had a history of left subcutaneous breast mass that was diagnosed as malignant fibrous histiocytoma 3 years earlier. We report a case of malignant fibrous histiocytoma with pleomorphism mixed with spindle-shaped cells and multinuclear giant cells, which metastasized to the skin. PMID:12582384

Lew, Wook; Lim, Ha Seong; Kim, You Chan

2003-02-01

148

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.

149

AMG 319 Lymphoid Malignancy FIH  

ClinicalTrials.gov

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

2014-07-31

150

Antiangiogenic therapy in malignant gliomas  

Microsoft Academic Search

Summary  Malignant gliomas are the most frequent malignant brain tumours and the median overall survival is still only 15 months despite\\u000a combination of radio and chemotherapy and introduction of novel molecular-based therapies. We report on our experience with\\u000a the antiangiogenic therapy with Bevacizumab (Avastin®) 10 mg\\/kg in combination with Irinotecan 125 mg\\/m2 as second-line chemotherapy in 32 patients with recurring high-grade

J. Pichler

2009-01-01

151

Molecular therapies for malignant glioma  

Microsoft Academic Search

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

Markus Hutterer; Eberhard Gunsilius; Guenther Stockhammer

2006-01-01

152

The psychoanalytic view of phobias. Part II: Infantile phobias.  

PubMed

The psychoanalytic literature on infantile phobias, despite disclaimers by several of its prominent authors, seems to demonstrate a growth in knowledge of these conditions and an increasing respect for methodology. It is also noteworthy in its close adherence to the presentation of clinical material. Looking at phobia from this developmental viewpoint has caused us to modify our definition of phobia, adding independence from immediate, fear-provoking stimuli and requiring an inference on the part of the observer because of some integral mental process which is nontransparent. These additions are further specifications of the meaning of the term in general; they are not intended to be limited to infantile phobias. Phobic syndromes can certainly arise well before age four, well before there is any evidence of a child's having entered the oedipal phase of development. Nevertheless, because of the early genital phase, castration reactions, albeit with a somewhat different meaning, usually appear to be involved in the symptom formation. There is also a suggestion that all infantile phobias may begin to arise at this period of development. The symptom pictures in the cases of the children reported in the psychoanalytic literature are very similar. We seem to have described a disorder which, we can hypothesize, has its beginnings in the early genital phase, may emerge as a psychopathological condition at that time, or may reach proportions sufficient to interfere with function or development only several years later. The disorder appears to make use of inherited reflex-like patterns of response to certain stimuli as dangers. On the basis of the reported psychoanalytic experience, we cannot really generalize much about psychogenetics or psychodynamics. Psychoanalysts have applied their ideas about neurotic symptom formation in general to these cases. Just why the illnesses assume these particular forms in these particular children is unclear. The only steps toward specification have been hypotheses introduced by Anna Freud and Owen Renik. Anna Freud hypothesized that a major condensation occurs to focus infantile anxieties on a single symbol, thus causing sharply focused, rather than generalized, anxiety. Renik related self-object differentiation and cognitive development to such "symbolization" in infancy, explaining phobic object formation in terms of primary and secondary process representations and their interaction. Although we have descriptively defined a syndrome "phobia," it is not yet clear whether the disorders of infancy and childhood which fit that definition have significant similarities--descriptively or psychodynamically--with conditions which develop later in life and also appear to fit the descriptive parameters.(ABSTRACT TRUNCATED AT 400 WORDS) PMID:1594717

Compton, A

1992-04-01

153

Malignant transformation of oral lichen planus  

Microsoft Academic Search

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

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

1999-01-01

154

Malignancies associated with systemic sclerosis.  

PubMed

The outcome of systemic sclerosis (SSc) has become more favorable during the past years. Respiratory failure or renal crisis became less frequent, therefore more attention should be paid to long-term comorbidities, such as malignancies secondary to scleroderma. The incidence of malignant lymphoproliferative diseases, as well as that of solid tumors are higher in a number of rheumatic diseases including SSc. Some cytotoxic agents, primarily cyclophosphamide used in the treatment of SSc, as well as exposure to chemicals or smoking may further increase cancer risk. We also present malignancies in 218 scleroderma patients undergoing follow-up in our department were assessed for secondary malignancies. Although the number of SSc patients with tumor is relatively small, we compared our cohort to the Health for All Hungarian database and calculated standard incidence ratios (SIR). We identified 11 cases of malignancy in 10 SSc patients (4.6%). One patient had two types of tumor: breast cancer before the onset of SSc and later malignant lymphoma. Half of SSc patients with cancer belonged to the diffuse cutaneous (dcSSc) subtype. The mean age at onset of SSc was 54.6 years, while that at the diagnosis of malignancy was 61.5 years. The mean disease duration of scleroderma at the time of cancer diagnosis was 6.6 years. Five patients died, 4 due to the underlying malignancy. Among the five surviving patients, the mean survival time was 4.9 years. Altogether 3 patients had non-Hodgkin's lymphoma, 2 had bronchial cancer, 2 had breast cancer, one had leiomyosarcoma of the leg, one had esophageal cancer, one had cervix cancer and one had skin cancer. In comparison to the Health for All database, the overall SIR of all malignancies in SSc was 1.07 (CI: 0.82-1.38) varying between 5.8 and 52.4 in different tumor types. Only one cancer patient received cyclophosphamide therapy. In conclusion, secondary tumors including lung, skin and breast cancer, as well as lymphomas are more common in SSc than in the general population. The adequate treatment and follow-up of scleroderma patients may help us to lower the risk of malignancies secondary to SSc. PMID:22410174

Szekanecz, Éva; Szamosi, Szilvia; Horváth, Ágnes; Németh, Ágnes; Juhász, Balázs; Szántó, János; Szücs, Gabriella; Szekanecz, Zoltán

2012-10-01

155

Infantile myofibroma in a prematurely born twin: a case report.  

PubMed

Infantile myofibromatosis is a rare benign tumor of infancy and childhood that occurs in solitary, multiple, and generalized forms with similar histology but different clinicopathologic and prognostic implications. Even solitary tumors need follow-up, as the type of presentation will be determined over time. It is necessary to differentiate this entity from other more aggressive tumors, especially rhabdomyosarcoma, which is treated by chemotherapy prior to excision. We describe a prematurely born twin girl who had at birth a solitary tumor of the cervicoscapular region, involving the dermis and subcutis. A fine-needle aspiration biopsy (FNAB) specimen obtained soon after her birth suggested a diagnosis of benign neoplasm. The tumor was excised 1 month later, at which time it was significantly enlarged, ulcerated, and also exhibited worrisome histologic features including mitoses and infiltrative growth. It had the characteristic histologic pattern of infantile myofibromatosis, and myofibroblastic features of tumor cells were confirmed immunohistochemically and ultrastructurally. During the follow-up period of 39 months, there was no sign of recurrence or new tumors. PMID:12869160

Jurci?, Vesna; Perkovi?, Tanja; Pohar-Marinsek, Ziva; Hvala, Asta; Lazar, Inka

2003-01-01

156

Induction of apoptosis in infantile hemangioma endothelial cells by propranolol.  

PubMed

Propranolol, a non-selective ?-blocker, is emerging as an effective treatment for complicated hemangiomas. The aim of this study was to investigate the molecular mechanism(s) underlying the therapeutic effects of propranolol against hemangiomas, using primary infantile hemangioma endothelial cells (IHECs). IHECs were treated with various concentrations of propranolol and morphological changes and apoptosis were assessed. Changes in the expression levels of apoptosis-related genes were examined. Annexin-V staining revealed that propranolol at 40, 50 and 60 ?g/ml caused a concentration-dependent increase in the apoptosis of IHECs. Morphological analyses revealed that exposure to 50 ?g/ml propranolol resulted in typical apoptotic changes, including shrinkage, the formation of apoptotic bodies and retention of plasma membrane integrity. Gene expression analyses revealed that propranolol treatment led to a marked increase in the expression of caspase-8, cytochrome c, apoptosis-inducing factor, caspase-3 and poly (ADP-ribose) polymerase 1, as well as a concomitant reduction in lamin B1 expression. Our data collectively demonstrate that propranolol induces apoptosis of IHECs through activation of the intrinsic and extrinsic apoptotic pathways, which represents an important mechanism for its therapeutic effects against infantile hemangiomas. PMID:24137229

Tu, Jun-Bo; Ma, Rui-Zhao; Dong, Qiang; Jiang, Fei; Hu, Xiao-Yi; Li, Quan-Yan; Pattar, Parukjan; Zhang, Hao

2013-08-01

157

Epidemiologic overview of malignant lymphoma  

PubMed Central

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

2012-01-01

158

Bronchial adenoma: a malignant misnomer.  

PubMed

Bronchial adenomas are a histologically and clinically diverse group of respiratory tract neoplasms arising from mucous glands and ducts of the tracheobronchial tree. They represent 1% of pulmonary malignancies. The traditional concept of a single, histologically benign form is challenged and the malignant potential of these tumors is stressed. Three main cell types with their characteristic histopathologic and clinical features are discussed: carcinoid, adenoid cystic carcinoma, and mucoepidermoid carcinoma. A case of bronchial carcinoid with hepatic metastases is reported, emphasizing the malignant potential of this controversial group of tumors. The appropriate diagnostic evaluation is outlined and aggressive surgical management is stressed. Chemotherapy and radiation therapy which are reserved mainly for palliation do not add to overall five year survival rates. PMID:513920

Rowe, L D; Jafek, B W

1979-12-01

159

AUTOANTIBODIES AGAINST FOLATE RECEPTORS ARE ASSOCIATED WITH THE INFANTILE-ONSET CEREBRAL FOLATE DEFICIENCY SYNDROME  

Technology Transfer Automated Retrieval System (TEKTRAN)

Infantile Cerebral Folate Deficiency (CFD) is a neurologic syndrome that manifests shortly after birth with irritability, decelerating head growth, psychomotor retardation, spastic-ataxia, dyskinesias and seizures. The active folate metabolite, N**5-methyltetrahydrofolate (5MTHF) is diminished in th...

160

Infantile Acute Monoblastic Leukemia with MLL Gene Rearrangements.  

PubMed

A 7 month infant presented with fever and breathlessness with raised total counts. Examination revealed 90 % blasts with prominent nucleoli. Flow cytometry revealed a tight cluster in the monocytic region. The blasts showed homogenous bright CD 33/4/64/HLA D with heterogeneous expression of CD14/15/11c. Blasts were negative for CD13/MPO/Cytoplasmic CD3/19/7/34/117/5/22/TdT/CD 61/41. FISH revealed MLL gene rearrangements in the blasts. No evidence of Down's syndrome on cytogenetic studies was noted. Diagnosis of Infantile acute monoblastic leukemia was made. These leukemias are rare in infants and are associated with a poor outcome. PMID:25548462

Sachdev, Ritesh; Agarwal, Naveen; Khan, Mohd Ateek; Kumar, Anil

2015-03-01

161

An anatomical commentary on the concept of infantile oral sadism.  

PubMed

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

Freeman, R; Freeman, T

1992-01-01

162

Beta-blockers as therapy for infantile hemangiomas.  

PubMed

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

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

2014-05-01

163

[Stereotaxic surgery in the hyperkinetic form of infantile cerebral palsy].  

PubMed

The results of 67 stereotaxic operations performed in 60 patients for the hyperkinetic form of infantile cerebral paralysis are presented. The efficacy of dentatotomy is compared with that of thalamotomy. Thalamotomy is most effective in patients with hemiatetosis and choreoatetoid hyperkinesis. Dentatotomy resulted not only in a reduction of hyperkinesis, but also in a considerable alleviation of muscle spasticity. The destruction of the lateral part of nuclels dentatus caused predominantly a reduction of the muscle tone and of involuntary movements of the lower extremities, and--to a lesser degree--of the upper as well. The destruction of the medial part of the nucleus dentatus resulted in a clear reduction of muscle dystony in the trunk. PMID:797127

Nesterov, L N; Kravtsov, Iu I; Skupchenko, V V

1976-01-01

164

Subdural Fluid Collections in Patients with Infantile Neuronal Ceroid Lipofuscinosis  

PubMed Central

Objective To describe subdural fluid collections on magnetic resonance imaging (MRI) as part of the natural history of infantile neuronal ceroid lipofuscinosis. Design Case series Setting Program on Developmental Endocrinology and Genetics, The Clinical Center, The National Institutes of Health, Bethesda, Maryland. Results During an ongoing bench-to-bedside clinical investigation, MRI examinations led to the incidental discovery of subdural fluid collections in four of nine patients with INCL. No particular event (such as trauma) or change in symptoms was linked to this finding, which was already in the chronic phase when discovered. Of the four patients, one was followed for 7 years, two for 4 years and a fourth patient was followed for 2.5 years. Over time, these collections remained stable or decreased in size. Conclusion Recognition that subdural fluid collections are part of the INCL disease process may obviate the necessity of additional workup as well as therapeutic interventions in these chronically sick children. PMID:20008666

Levin, Sondra W.; Baker, Eva H.; Gropman, Andrea; Quezado, Zenaide; Miao, Ning; Zhang, Zhongjian; Jollands, Alice; Capua, Matteo Di; Caruso, Rafael; Mukherjee, Anil B.

2010-01-01

165

A genetic diagnostic approach to infantile epileptic encephalopathies.  

PubMed

Epileptic encephalopathies are characterized by frequent severe seizures, and/or prominent interictal epileptiform discharges on the electroencephalogram, developmental delay or deterioration, and usually a poor prognosis. The epileptiform abnormalities themselves are believed to contribute to the progressive disturbance in cerebral function. Determining the underlying aetiology responsible for infantile epileptic encephalopathy is a clinical challenge worth undertaking to facilitate advice on the recurrence risk and to allow for the option of prenatal testing, as often this category of epilepsy is associated with devastating hardship for families. This review takes advantage of recently published studies that have identified new genes associated with epilepsy and focuses on known monogenic causes where detection is useful for the process of genetic counselling. Based on the review, we present a diagnostic work-up in order to triage specific genetic testing for infants presenting with an epileptic encephalopathy. PMID:22617547

Kamien, Benjamin A; Cardamone, Michael; Lawson, John A; Sachdev, Rani

2012-07-01

166

Partial 6p trisomy associated with infantile autism.  

PubMed

Partial trisomy 6p with duplications ranging from 6p21 to 6p25-pter is emerging as an established syndrome. We report a case of duplication of 6p (6p23-pter) and deletion of 2q37-qter. Features characteristic of 6p partial trisomy present in the patient are low birthweight, and mental and developmental retardation. Major facial features include prominent forehead, flat occiput, multiple ocular abnormalities, low-set ears, prominent nasal bridge, long philtrum and small pointed mouth. Repeated examinations of the patient from birth to the age of over 5 years revealed that he has infantile autism. Since autistic children are generally not associated with chromosome anomalies, in view of the present case, it is suggested that karyotypic analysis be considered for such children. Where possible, extended study for autism in 6p trisomic children may also be desirable. PMID:3378366

Burd, L; Martsolf, J T; Kerbeshian, J; Jalal, S M

1988-05-01

167

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...

168

Malignant mesothelioma of the pleura  

Microsoft Academic Search

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

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

1988-01-01

169

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

PubMed

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

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

170

Malignant haemangiopericytoma of the mesorectum.  

PubMed

The authors report the case of a malignant haemangiopericytoma found in an uncommon location, namely the mesorectum. Haemangiopericytomas of the mesorectum are rare mesenchymal tumours of vascular origin that usually occur in the musculature of the extremities, retroperitoneum, pelvis (uterus, ovary and urinary bladder), head, neck and lungs. Rare sites include the liver, pancreas, stomach and greater omentum. Because of their rarity the overall experience has not been significant and little has been published concerning such tumours. In addition, the difficult interpretation of the histological evidence and the poor prognosis of the disease may still give rise to problems in terms of clinical management. Haemangiopericytomas of the retrorectal space, however, seem to behave like malignant tumours: the clinical course is poor and survival short, despite radical surgery, due to early distant metastases and local recurrence. Surgery still remains the mainstay of treatment. Adjuvant therapies should be considered. PMID:15771043

Vennarecci, Giovanni; Boschetto, Arianna; Esposito, Alessandro; Giovannelli, Luca; Buscaglia, Francesco; Corazza, Valerio; Santoro, Roberto; Mancini, Pietro; Lorusso, Riccardo; Marino, Mirella; Ettorre, Giuseppe Maria

2004-01-01

171

Clinically malignant atypical glomus tumour  

PubMed Central

Glomus tumours (GTs) resemble the normal glomus body and have a predilection for skin and subcutaneous tissue. Although the majority of glomus tumours are small, benign neoplasms that occur in the dermis or subcutis of the extremities and cases of atypical or malignant variants have been reported. We report a case of a man who presented with a 1-year history of subcutaneous nodule in the right scapular area which was mildly tender. The nodule measured 2?cm. Microscopic examination showed features of glomus tumour with increased mitotic activity. These features, by current definition, would suggest glomus tumour of uncertain malignant potential. Three months later, he presented with recurrence. During his metastasis work-up, we noticed bilateral pulmonary metastasis. Metastasising GTs are rare. The patient underwent wide local excision and received chemotherapy. PMID:23291816

Binesh, Fariba; Akhavan, Ali; Zahir, Shokouh Taghipour; Bovanlu, Taghi Roshan

2013-01-01

172

Protein ubiquitination in lymphoid malignancies.  

PubMed

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 transcription factors and signaling pathways. These transcription factors and signaling pathways are precisely regulated at multiple steps, including ubiquitin modification. Protein ubiqutination plays a role in almost all cellular events and 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 non-proteolytic 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

Yang, Yibin; Staudt, Louis M

2015-01-01

173

Giant Malignant Pheochromocytoma with Palpable Rib Metastases  

PubMed Central

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

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

2014-01-01

174

Transcatheter therapy for malignant neoplasms.  

PubMed Central

Interventional radiology has developed into a subspecialty with application in the treatment and palliation of patients with advanced malignant diseases. A directed catheter delivers high concentrations of chemotherapy directly into the tumor bed. Embolic particles may be injected to stop hemorrhage or to occlude the blood supply of a cancer, resulting in pain relief or tumor shrinkage. These techniques can be incorporated into a multidisciplinary approach to cancer. Images PMID:2686168

Coldwell, D M; Mortimer, J E

1989-01-01

175

Malignant hyperthermia: A statistical review  

Microsoft Academic Search

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

B. A. Britt; W. Kalow

1970-01-01

176

Endobronchial metastases from extrathoracic malignancies.  

PubMed

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

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

2005-01-01

177

[Apparently primary malignant cervical adenopathy].  

PubMed

Despite a thorough examination it is not always possible to detect the primary cancer responsible for malignant cervical adenopathy. In the vast majority of cases the metastases arise from an epidermoid carcinoma of the upper respiratory or digestive tract. A possible diagnostic, but also therapeutic procedure is exploratory cervicotomy with extemporaneous examination. The prognosis is poor, both locally (glandular involvement) and generally (metastatic spread). PMID:1475606

Favre-Dauvergne, E; Szpirglas, H; Chikhani, L; Goudot, P; Divaris, M; Vaillant, J M

1992-01-01

178

Molecular Therapies for Malignant Gliomas  

Microsoft Academic Search

\\u000a Due to the dismal prognosis of malignant glioma patients there is an urgent need for new innovative treatments based on a\\u000a better understanding of the molecular mechanisms of gliomagenesis. Several growth factor mediated molecular pathways are critically\\u000a involved in glioma growth, invasiveness, and tumor neovascularization. Therefore, several concepts of molecular therapies\\u000a directed against specific receptor-mediated signaling pathways are currently studied

Markus Hutterer; Günther Stockhammer

179

Malignancies in inflammatory bowel disease.  

PubMed

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

Nieminen, Urpo; Färkkilä, Martti

2015-01-01

180

Malignant cancer and invasive placentation  

PubMed Central

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

D'Souza, Alaric W.; Wagner, Günter P.

2014-01-01

181

Immunotherapy of malignant brain tumors  

PubMed Central

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

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

2012-01-01

182

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

NASA Astrophysics Data System (ADS)

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

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

2012-06-01

183

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

PubMed Central

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

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

2004-01-01

184

[Medication-based therapy of infantile hemangioma and lymphatic malformations].  

PubMed

The therapy of vascular tumors and malformations should be interdisciplinary and performed according to available guidelines. Infantile hemangiomas (IH) are the most frequent vascular tumors of childhood and do not require treatment in most cases. If the IH is complicated by its location (e.g. facial or genital) or if the lesion threatens to cause loss of function, small localized IH should be treated by laser- or cryotherapy. If the IH is diffuse or rapidly growing it can be successfully treated using the ? blocker propranolol. The mechanism underlying the efficacy of this medication-based therapy is not completely understood and this still represents an experimental therapy. The results of molecular studies on vascular malformations have indicated new strategies for medical therapies. However, lymphatic malformations (LM) are still treated by surgery where possible, or sclerotherapy. Further investigations are necessary to determine whether new drugs such as the mTOR inhibitor rapamycin may be effective for treatment of diffuse LM. First case reports seem to be promising. PMID:24434958

Rössler, J; Braunschweiger, F; Schill, T

2014-01-01

185

Late rebound of infantile hemangioma after cessation of oral propranolol.  

PubMed

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

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

2013-01-01

186

Infantile zinc deficiency: Association with autism spectrum disorders  

PubMed Central

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

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

2011-01-01

187

A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis  

PubMed Central

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

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

2013-01-01

188

Infantile hypertrophic pyloric stenosis in Belfast, 1957-1969.  

PubMed Central

Infants with hypertrophic pyloric stenosis born in Belfast during the 13 years 1957-1969 have been reviewed. Their distribution shows a bias towards higher social classes, breast feeding, and primogeniture. Obstetric factors and parental ages seem to be of no importance. More affected infants were born during winter months than would be expected. The overall incidence of infantile pyloric stenosis in this community has fallen during the period under review. Clinically, the patients started vomiting at a mean age of 22 days and it is recommended that the condition should not be called 'congenital'. The size of the tumour is mainly determined by the size of the patient, rather than by his age or duration of symptoms. Attention is drawn to the occurrence of haematemesis in 17-5% and melaena in 2-9% of infants. Jaundice occurred in 1-8% of patients in this series, and is attributed to the adverse effect of starvation on hepatic glucuronyl transferase activity. Other conditions noted in these patients included inguinal hernia, partial thoracic stomach, and phenylketonuria. Subsequent growth and development were in the anticipated range. PMID:1170811

Dodge, J A

1975-01-01

189

[ACTH therapy for infantile spasms with chronic renal failure].  

PubMed

A one-year-old female patient with infantile spasms who suffered from chronic renal failure was treated with ACTH for the control of frequent tonic spasms. She received 0.005 mg/kg of ACTH for 7 days and then 0.01 mg/kg for 12 days daily. From 12 days after initiation of the treatment, tonic spasms and hypsarrythmia observed on electroencephalography disappeared. During the ACTH treatment, hypertension and gastric bleeding developed, and persisted even with antihypertensive drugs and a H2-blocker treatments. During the ACTH therapy, the serum cortisol level was higher than that in control subjects. Recent advances regarding the metabolism of cortisol have shown that the inactivation of cortisol is impaired in patients with chronic renal failure and that clearance of cortisol from serum is decreased in such patients. It is suggested that the same mechanism was involved in the present patient during the ACTH therapy and that adverse effects of ACTH were related to the high cortisol level in the serum. We conclude that the dose and duration of ACTH therapy should be determined by careful monitoring for the adverse effects of ACTH, and that the serum cortisol level might be a predictor of the side effects of ACTH therapy in a patient with chronic renal failure. PMID:18807889

Miyama, Sahoko; Goto, Tomohide; Kanamoto, Katsuyoshi; Ishikura, Kenji

2008-09-01

190

Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis  

PubMed Central

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

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

2013-01-01

191

Evaluation of Clinical Course and Neurocognition in Children With Self-Limited Infantile Epilepsy in a Turkish Cohort Study.  

PubMed

The outcome of children with self-limited infantile epilepsy was reported to be normal psychosocial and cognitive development as a characteristic criterion. We aimed to investigate the clinical course and neurocognitive outcome in children with self-limited infantile epilepsy in a Turkish cohort. The clinical course, electroencephalographic (EEG) characteristics, neuroimaging, treatment, and outcome of children with self-limited infantile epilepsy were retrospectively analyzed. All infants were reevaluated with the Denver Developmental Screening Test in addition to neurologic examination. Of 44 patients, self-limited familial infantile epilepsy was diagnosed in 8 infants (18.2%) and self-limited nonfamilial infantile epilepsy in 28 (63.6%). Interictal EEGs and neurologic examinations were normal in all cases. Fine motor and gross motor skills, language, adaptive personal/social skills were near-normal in all patients with self-limited familial infantile epilepsy. Delay in language parameters was observed in 2 infants with self-limited nonfamilial infantile epilepsy. Language skills should be thoroughly evaluated with detailed neurocognitive screening tests in patients with self-limited infantile epilepsy. PMID:24958006

Bozaykut, Abdulkadir; Aksoy, Halil Ural; Sezer, Rabia Gönül; Polat, Muzaffer

2014-06-22

192

Targeted therapy in gastrointestinal malignancies  

PubMed Central

Increased understanding of cancer pathogenesis has identified several pathways that serve as potential targets for novel targeted agents in development. The selection of targeted cancer therapy based on biomarkers has instigated a new era of personalized medicine and changed the way we practice oncology. Many targeted agents are approved for treatment of gastrointestinal malignancies most targeting tumor angiogenesis, and many more are in different phases of development. Here we briefly summarize nine different targeted agents that are approved currently in the U.S. and several other agents currently being studied in various gastrointestinal cancers. PMID:24737952

Chhatrala, Ravi; Thanavala, Yasmin; Iyer, Renuka

2014-01-01

193

Immune therapies for malignant mesothelioma.  

PubMed

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

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

2014-08-01

194

[Radiation therapy for malignant lymphoma].  

PubMed

Malignant lymphoma is usually radiosensitive and radiation therapy is an effective modality for local control of lymphoma. However, lymphoma is a typical systemic disease, and chemotherapy is performed for many cases. Recently, the late adverse events associated with radiotherapy (especially extended field radiation therapy), such as cardiovascular disease and secondary cancers, become a serious problem for long-term lymphoma survivors. In combination with chemotherapy, it is possible to reduce both the treatment volume and the overall treatment dose to minimise the risks of late adverse events. PMID:24724405

Asakawa, Isao; Tamamoto, Tetsuro; Hasegawa, Masatoshi

2014-03-01

195

Leuloplakia - review of a potentially malignant disorder.  

PubMed

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

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

2014-08-01

196

Delayed Onset Malignant Hyperthermia after Sevoflurane  

PubMed Central

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

Turhan, K. Sanem Cakar; Bayta?, Volkan; Batislam, Ye?im; Özatamer, Oya

2013-01-01

197

Angiogenesis and antiangiogenic therapy for malignant gliomas  

Microsoft Academic Search

Angiogenesis is crucial to the growth of malignant gliomas. Therefore, antiangiogenic therapy represents a new, promising\\u000a therapeutic modality for malignant gliomas. This study was designed to define the malignant glioma cases most suitable for\\u000a antiangiogenic therapy in humans and to demonstrate the efficacy of antiangiogenic therapy in animals. Protein expression\\u000a of the most potent angiogenic factor, vascular endothelial growth factor

Shingo Takano; Hiroshi Kamiyama; Koji Tsuboi; Akira Matsumura

2004-01-01

198

Leuloplakia - Review of A Potentially Malignant Disorder  

PubMed Central

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

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

2014-01-01

199

A Pulse Rapamycin Therapy for Infantile Spasms and Associated Cognitive Decline  

PubMed Central

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

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

2011-01-01

200

Radioguided surgery in urological malignancies  

PubMed Central

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

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

2008-01-01

201

Mathematical modeling of hematological malignancies.  

PubMed

Mathematical models addressing important aspects of hematological malignancies have recently facilitated an improved understanding of the involved complex biological processes and the prediction of potential targets for therapeutic approaches. These models investigate a wide spectrum of topics ranging from metabolic processes, gene regulatory networks and signal transduction up to the behavior of cell populations. However, despite this range of biological processes, the modeling strategies share many common features. Biological knowledge is translated into abstract descriptions representing complex networks and the parameters of these mathematical models are derived from literature data or estimated from experimental measurements. The established mathematical models are used to interrogate key properties of the investigated system by model simulations. These predictions are validated based on previously published or novel experiments. Additionally, new drug targets are predicted or novel insights into biological processes are provided. Here, we summarize the strategies employed to establish four mathematical models that address different processes in leukemia and lymphoma cells. Furthermore, we show how these systems biology approaches could contribute to elucidate the pathobiology of hematological malignancies. PMID:22201981

Schilling, Marcel; Klingmuller, Ursula

2012-01-01

202

Pheochromocytomas and paragangliomas: assessment of malignant potential.  

PubMed

Pheochromocytomas and paragangliomas (PPGLs) are rare catecholamine-secreting tumors which arise from the adrenal glands or sympathetic neuronal tissue. Malignant transformation of these tumors occurs in a significant proportion and may therefore lower overall survival rates. In patients with PPGLs it is impossible to identify malignant disease without the presence of metastatic disease, something which can occur as long as 20 years after initial surgery. Early identification of malignant disease would necessitate a more aggressive treatment approach, something which may result in better disease outcome. We have therefore reviewed possible predictors of malignancy and current developments in order to help clinicians to swiftly assess malignant potential in patients with PPGLs. Currently, there is no absolute marker which can objectively reflect malignant potential. Tumor size is the most reliable predictor and should therefore be used as the baseline characteristic. The combination of various clinical markers (extra-adrenal disease and post-operative hypertension), biochemical markers (high dopamine, high norepinephrine and epinephrine to total catecholamine ratio) and/or histological markers (SNAIL, microRNAs and/or microarray results) can raise or lower the suspicion of malignancy. Furthermore, we discuss how clinical markers may affect biochemical results linked to malignancy, how biochemical results may distinguish hereditary syndromes, the role of imaging in determining malignant potential and tumor detection, and recent results of proposed histological markers. PMID:22038451

Korevaar, Tim I M; Grossman, Ashley B

2011-12-01

203

Malignant gastric lymphoma with spontaneous perforation.  

PubMed

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

Shimada, Satoko; Gen, Tokichi; Okamoto, Hiroyuki

2013-01-01

204

Malignant gastric lymphoma with spontaneous perforation  

PubMed Central

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

Shimada, Satoko; Gen, Tokichi; Okamoto, Hiroyuki

2013-01-01

205

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

PubMed

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

Modarressi, Taher

2014-05-01

206

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

SciTech Connect

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.

Shirasaka, Y.; Ito, M.; Okuno, T.; Fujii, T.; Mikawa, H. (Kyoto Univ. (Japan))

1989-09-01

207

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

PubMed

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

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

2014-03-01

208

Early Infantile Growth and Cardiovascular Risks in Adolescent Japanese Women  

PubMed Central

Objective: Early life events connected with the risk of later disease can occur not only in utero, but also in infancy. In study of the developmental origins of health and disease, the relationship between infantile growth patterns and adolescent body mass index and blood pressure is one of the most important issues to verify. Materials and Methods: We analyzed the correlation of current body mass index and systolic blood pressure of 168 female college students with their growth patterns in utero and in infancy. Results: Body mass index and systolic blood pressure in adolescence showed positive correlations with changes in weight-for-age z scores between 1 and 18 months but not with those between 18 and 36 months. Stepwise multiple regression analysis showed that both change in weight-for-age z scores from 1 to 18 months and body mass index at 1 month were significantly and independently associated with systolic blood pressure in adolescence. Body mass index at 36 months was positively correlated with body mass index in adolescence, while body mass index at birth was negatively correlated with body mass index in adolescence. Conclusion: Our findings shows that restricted growth in utero and accelerated weight gain in early infancy are associated with the cardiovascular risk factors of high systolic blood pressure and high body mass index in adolescence. In Japan, an increasing proportion of low birth weight infants and accelerated catch-up growth after birth have been observed in recent decades. This might be an alarming harbinger of an increase in diseases related to the developmental origins of health and disease in Japan.

Ohmi, Hiroki; Kato, Chieko; Meadows, Martin; Terayama, Kazuyuki; Suzuki, Fumiaki; Ito, Michiko; Mochizuki, Yoshikatsu; Hata, Akira

2013-01-01

209

Identification of Serum Regression Signs in Infantile Hemangioma  

PubMed Central

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

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

2014-01-01

210

Screening of Inherited Metabolic Disorders in Infants with Infantile Spasms.  

PubMed

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

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

2014-11-23

211

Vigabatrin retinal toxicity in children with infantile spasms  

PubMed Central

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

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

2014-01-01

212

The Temporal Impulse Response Function in Infantile Nystagmus  

PubMed Central

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

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

2008-01-01

213

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

Microsoft Academic Search

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

Thomas Connelly; Joan Mones; Anthony Dixon

2009-01-01

214

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

Microsoft Academic Search

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

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

1998-01-01

215

Vaccine therapies in malignant glioma.  

PubMed

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

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

2015-01-01

216

Thigmotropism of Malignant Melanoma Cells  

PubMed Central

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

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

2012-01-01

217

Thigmotropism of malignant melanoma cells.  

PubMed

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

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

2012-01-01

218

Malignant Mesothelioma: Development to Therapy  

PubMed Central

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

Thompson, Joyce; Westbom, Catherine; Shukla, Arti

2013-01-01

219

[Tracheobronchial reconstruction of malignant tumors].  

PubMed

To August, 1988, we performed tracheobronchial reconstruction for 159 patients with malignant tumors. Operative methods in these patients and the operative results studied in the end of March, 1989, was reported. As for adenoid cystic carcinoma, we stressed, by illustrating cases, that postoperative radiation therapy was useful and that it should be given for all patients with this disease. About one half of patients with thyroid carcinoma infiltrating the trachea died of symptoms related with tracheal stenosis. However, tracheobronchial reconstruction improved 10 year survival rate in patients with advanced thyroid carcinoma remarkably, which became close to that in patients with non-infiltrating thyroid carcinoma. As for lung cancer, tracheobronchial reconstruction had good indication for squamous cell carcinoma. PMID:2558247

Ishihara, T; Kato, R; Kobayashi, K; Kikuchi, K; Kawamura, M; Nakayama, M; Horinouchi, H

1989-07-01

220

Morphological characteristics of malignant solitary pulmonary nodules.  

PubMed

The solitary pulmonary nodule is a common radiologic abnormality, which is often detected incidentally. It is defined as focal, round or oval areas of increased opacity in the lung which are caused by a variety of disorders, including neoplasm, infection, inflammations, and vascular and congenital abnormalities. Most of the solitary pulmonary nodules are benign, but up to 30%-40% of them are malignant. The main goal of the radiologic evaluation of suspected solitary pulmonary nodules is to differentiate benign from malignant lesions as accurately as possible. The aim of the study was the assessment of the morphological characteristics of the malignant solitary pulmonary nodules. Large nodule size, irregular, spiculated margins, inhomogeneous density of nodule thick walls in cavitary nodules suggest the presence of the malignant lesion. Smooth, well-defined margins, homogeneous density or the presence of diffuse, laminated, central or popcorn-like calcifications suggest the benign nodule. Diffuse, irregular amorphous calcifications suggest the malignant process. Unfortunately there is a kind of overlapping, and some benign nodules may show features typical of malignancy, and some malignant lesions may appear benign. Morphologic characteristics in computed tomography is however helpful in differentiation of benign from malignant nodules. PMID:16145947

Pas?awski, Marek; Krzyzanowski, Konrad; Z?omaniec, Janusz; Gwizdak, Jacek

2004-01-01

221

Malignant Melanoma with Probable Smooth Muscle Differentiation  

PubMed Central

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

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

2014-01-01

222

Management of malignant hyperthermia: diagnosis and treatment  

PubMed Central

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

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

2014-01-01

223

Expression of Cellular Oncogenes in Human Malignancies  

NASA Astrophysics Data System (ADS)

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

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

1984-04-01

224

Gynecologic Malignancies Post-LeFort Colpocleisis  

PubMed Central

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.

2014-01-01

225

Autocrine growth factors and solid tumor malignancy.  

PubMed Central

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

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

1991-01-01

226

Effective treatment of infantile choriocarcinoma in the liver with chemotherapy and surgical resection: A case report  

Microsoft Academic Search

Infantile choriocarcinoma of the liver is an extremely rare entity, and outcome has been fatal in almost all published cases. To the authors' knowledge, this is the first report on successful treatment with preoperative chemotherapy. A 10-week-old girl presented with a large liver tumor, ovarian cysts, cardiac insufficiency, progressive hemolytic anemia, and thrombocytopenia. Ultrasound scan and magnetic resonance tomography (MRT)

Philipp O. Szavay; Connie Wermes; Joerg Fuchs; Martin Schrappe; Paul Flemming; Dietrich von Schweinitz

2000-01-01

227

Social and Environmental Infantilization of Aged Persons: Observations in Two Adult Day Care Centers.  

ERIC Educational Resources Information Center

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,…

Salari, Sonia Miner; Rich, Melinda

2001-01-01

228

The Empty Fortress; Infantile Autism and the Birth of the Self.  

ERIC Educational Resources Information Center

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…

Bettelheim, Bruno

229

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

Microsoft Academic Search

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

Christopher Gillberg; I. Carina Gillberg

1983-01-01

230

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

Microsoft Academic Search

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

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

1971-01-01

231

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

ERIC Educational Resources Information Center

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…

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

232

Randomised controlled trial of infantile colic treated with chiropractic spinal manipulation  

Microsoft Academic Search

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

E Olafsdottir; S Forshei; G Fluge; T Markestad

2001-01-01

233

A Staging System for Infantile Krabbe Disease to Predict Outcome After Unrelated Umbilical Cord Blood Transplantation  

Microsoft Academic Search

OBJECTIVE.Infantile Krabbe disease, a rare neurodegenerative disorder that leads to rapid demyelination, dysmyelination, and death in the first 2 years of life, is responsive to treatment with umbilical cord blood transplantation provided that the patient is treated in the first weeks of life. At present, family history is the only way to identify patients that are asymptomatic with most patients

Maria L. Escolar; Michele D. Poe; Holly R. Martin; Joanne Kurtzberg

2010-01-01

234

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

Microsoft Academic Search

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

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

2005-01-01

235

DTI registration in atlas based fiber analysis of infantile Krabbe disease  

Microsoft Academic Search

In recent years, diffusion tensor imaging (DTI) has become the modality of choice to investigate white matter pathology in the developing brain. To study neonate Krabbe disease with DTI, we evaluate the performance of linear and non-linear DTI registration algorithms for atlas based fiber tract analysis. The DTI scans of 10 age-matched neonates with infantile Krabbe disease are mapped into

Yi Wang; Aditya Gupta; Zhexing Liu; Hui Zhang; Maria L. Escolar; John H. Gilmore; Sylvain Gouttard; Pierre Fillard; Eric Maltbie; Guido Gerig; Martin Styner

2011-01-01

236

Body Mass Index in Male and Female Children with Infantile Autism.  

ERIC Educational Resources Information Center

This study compared the body mass index (BMI) of 118 children with infantile autism with corresponding BMI percentiles in age-and sex-matched reference populations. The BMI distribution of the male children was significantly lower than that of the age-matched reference population. BMI was not associated with intelligence or socioeconomic status.…

Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

2002-01-01

237

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

ERIC Educational Resources Information Center

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…

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

238

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

Microsoft Academic Search

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

Judith M. Rumsey; Susan D. Hamburger

1988-01-01

239

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

Microsoft Academic Search

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

J C Melchior

1977-01-01

240

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

ERIC Educational Resources Information Center

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

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

2011-01-01

241

Systematic review of the occurrence of infantile colic in the community  

PubMed Central

AIMS—To assess the occurrence of infantile colic in the community and the need for professional help; and to study the influences of potential determinants of infantile colic.?METHODS—Surveys were identified by a systematic search in Medline (1966-98) and Embase (1988-98). Retrieved publications were checked for references. Studies selected were community based, prospective, and retrospective surveys on the occurrence of infantile colic published in English, German, French, or Dutch. Occurrence rates were calculated as percentages. Methodological quality of the surveys was assessed by two assessors independently with a standardised criteria list containing items on method of data gathering, definition of colic, and drop out rate.?RESULTS—Fifteen community based surveys were identified. The methodological quality varied considerably and was generally low. Even the two most methodologically sound prospective studies yielded widely varying cumulative incidence rates of 5-19%. Referral rates or the need to seek help because of crying were consistently lower than occurrence rates for prolonged crying as such. Gender, socioeconomic class, type of feeding, family history of atopy, and parental smoking were not shown to be associated with colic.?CONCLUSION—Occurrence rates of infantile colic vary greatly according to methodological quality. A considerable number of parents reporting prolonged crying do not seek or need professional help.?? PMID:11316682

Lucassen, P; Assendelft, W; van Eijk, J T. M; Gubbels, J; Douwes, A; van Geldrop, W J

2001-01-01

242

Colorectal infantile myofibromatosis: an unusual cause of rectal prolapse and sigmoid colo-colonic intussusception: a case report  

PubMed Central

Background Infantile myofibromatosis is a rare mesenchymal disorder of infancy that can extensively involve the viscera including the gastrointestinal tract. Case presentation In this report, an exceptional case of infantile myofibromatosis is described in which rectal prolapse and sigmoid colo-colonic intussusception were the initial presentations of colorectal involvement in a 2-month-old premature female infant. Conclusion To the best of our knowledge, this is the first case reporting rectal prolapse and the second case documenting intussusception secondary to gastrointestinal involvement by infantile myofibromatosis. PMID:19077316

Dhall, Deepti; Frykman, Philip K; Wang, Hanlin L

2008-01-01

243

Infantile hepatic hemangioendothelioma: A clinicopathologic study in a Chinese population  

PubMed Central

AIM: To investigate whether the clinicopathologic features of infantile hemangioendothelioma (IHE) of the liver in a Chinese population are similar to the features observed in other races. METHODS: The clinical data, radiological findings, histopathological changes and outcome of 12 cases of IHE diagnosed by the Department of Pathology, West China Hospital over the last 10 years were analyzed retrospectively. Immunohistochemical studies were carried out using antibodies against CD31, CD34, Factor VIII, cytokeratin 8 and cytokeratin 18. RESULTS: The 12 patients were aged from fetal to 5 years (three males and nine females). The tumor was presented with different clinical manifestations, mainly as an asymptomatic, palpable, upper abdominal mass, except for the two fetuses who were detected antenatally by ultrasound. In one patient, this presentation was accompanied by an initial severe pneumothorax. No symptoms of congestive heart failure were present and neither congenital abnormalities nor vascular tumors in the skin or other organs were found. Laboratory abnormalities included leukocytosis (40%), anemia (60%), thrombocytosis (60%), hyperbilirubinemia (16.7%), abnormal liver function (50%) and increased ?-fetoprotein (80%). Based on radiological findings and gross specimens, the tumor presented as a solitary lesion or a multifocal space-occupying lesion. The tumor size ranged from 5.0 cm × 3.5 cm × 2.0 cm to 13.8 cm × 9.0 cm × 7.7 cm, and the 0.2-1.1 cm nodules were diffusely distributed within the multifocal tumor. Seven cases were surgically resected, three cases underwent biopsy and the two fetuses were aborted. Histologically, nine cases were classified as type I and three as type II, presenting aggressive morphologic features, immature vessels, active mitosis and necrosis. An inflammatory component, predominantly eosinophilic granulocytes, sometimes obscured the nature of the tumor. Ten patients are alive after a follow-up of 1-9 years. Based on immunohistochemistry, the endothelial cells in all cases were positive for CD31, CD34 and polyclonal factor VIII antigen, whereas the scattered hyperplasia bile ducts were positive for cytokeratin 8 and cytokeratin 18. CONCLUSION: The clinical manifestations of IHE are non-specific. There is no significant correlation between histological type and prognosis. The clinicopathologic features of IHE in Chinese patients may provide a clue to further evidence-based studies. PMID:20857525

Zhang, Zhang; Chen, Hui-Jiao; Yang, Wen-Juan; Bu, Hong; Wei, Bing; Long, Xiao-Yu; Fu, Jing; Zhang, Rui; Ni, Yun-Bi; Zhang, Hong-Ying

2010-01-01

244

Infantile tauopathies: Hemimegalencephaly; tuberous sclerosis complex; focal cortical dysplasia 2; ganglioglioma.  

PubMed

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

Sarnat, Harvey B; Flores-Sarnat, Laura

2014-10-19

245

Features Suggestive of Gallbladder Malignancy  

PubMed Central

Objectives Gallbladder cancer carries an extremely high mortality rate, with a 5-year survival rate as low as 12%. Survival is dependent on the diagnosis of these tumors in their earliest stages. This study sought to describe the clinical and imaging features of stages T1, T2, and T3 gallbladder tumors and to illustrate features that may allow radiologists to make an early diagnosis. Materials and Methods After approval from the institutional review board, a search of the pathology department database yielded 18 patients with surgically proven T1, T2, and T3 gallbladder cancers with available preoperative computed tomography (CT) or magnetic resonance imaging. The imaging was reviewed for lesional morphology (focal polyploid mass, focal wall thickening, circumferential wall thickening), enhancement characteristics, liver invasion, locoregional lymph-adenopathy, and distant metastatic disease. The electronic medical record was also searched for demographic information and clinical presentation. Results There were 10 women and 8 men with a mean age of 69 years. Virtually all patients were symptomatic, with most patients demonstrating symptoms suggestive of underlying malignancy (including jaundice, weight loss, and chronic abdominal pain). Tumors on CT and MRI included 6 polyploid masses, 9 tumors with focal wall thickening, and 3 with circumferential wall thickening. The mean attenuation of those tumors imaged with CT was 59.4 Hounsfield units (HUs) on the arterial phase and 86.5 HUs on the venous phase, with a mean increase in Hounsfield attenuation between the arterial and venous phases of 28.2 HUs. Twelve of the 18 patients were correctly diagnosed prospectively on CT. Conclusions The imaging findings of gallbladder cancer can be subtle, regardless of whether the tumor presents as a discrete mass, focal wall thickening, or circumferential diffuse wall thickening, and radio-logists should be aware of the wide range of different possible appearances. Moreover, the vast majority of these patients had clinical symptoms suggestive of an underlying malignancy, and this should precipitate a careful evaluation of the gallbladder in all such cases. PMID:24625606

Mitchell, Charles H.; Johnson, Pamela T.; Fishman, Elliot K.; Hruban, Ralph H.; Raman, Siva P.

2015-01-01

246

Infantile neuroblastoma of the urinary bladder detected by hematuria.  

PubMed

Malignant tumors of the urinary bladder in infants are extremely rare. Rhabdomyosarcoma is the most likely tumor in this site, whereas neuroblastoma of the urinary bladder is exceedingly uncommon and is not listed as a differential diagnosis for tumors of this site. We present a case of neuroblastoma arising from the dome of the bladder wall, detected by hematuria. Only six cases of neuroblastoma originating from the bladder, including the present case have been reported. Of the cases, five arose from the dome of the bladder wall. In this report, the differential diagnosis of bladder tumors in children is discussed. A diagnosis of neuroblastoma should be taken into consideration, especially in the case of tumors arising from the dome of the bladder wall despite an uncommon location. PMID:23543098

Kojima, Shin-ichiro; Yagi, Minoru; Asagiri, Kimio; Fukahori, Suguru; Tanaka, Yoshiaki; Ishii, Shinji; Saikusa, Nobuyuki; Koga, Yoshinori; Yoshida, Motomu; Masui, Daisuke; Komatsuzaki, Naoko; Nakagawa, Shin-ichiro; Ozono, Shuichi; Tanikawa, Ken

2013-07-01

247

Metastatic malignant phyllodes tumor involving the cerebellum.  

PubMed

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

Rowe, J Jordi; Prayson, Richard A

2015-01-01

248

Paraneoplastic dermatological manifestation of gastrointestinal malignancies  

PubMed Central

Numerous dermatological disorders have been associated with underlining malignancies of the gastrointestinal (GI) tract. Such cutaneous manifestations might have an important diagnostic value if they are the sole expressions of otherwise asymptomatic carcinomas. The recognition of some typical paraneoplastic dermatologic disorders can lead to the prompt diagnosis of the underlying malignancy, timely administration of therapy, and ultimately, better prognosis. In this review we discuss the most common paraneoplastic dermatological syndromes from the perspective of the practicing gastroenterologist. We also outline a comprehensive practical approach for the evaluation for occult malignancy in patients presenting with cutaneous findings potentially associated with GI cancers. PMID:19764087

Dourmishev, Lyubomir A; Draganov, Peter V

2009-01-01

249

[Eye manifestation of extrarenal malignant rhabdoid tumour].  

PubMed

Extrarenal malignant rhabdoid tumour (EMRT) is very rare and aggresive childhood neoplasm with a rapid progression. The prognosis is still very poor with 80 % mortality rate. We report a case of a newborn baby with extrarenal malignant rhabdoid tumour of an upper eyelid. An EMRT was diagnosed based on the histological examination. This case report highlights the clinical presentation, radiological features and difficulty in diagnosis. The purpose is to underline the importance of its inclusion in the differential diagnosis of any aggresive lesion in a child. Key words: malignant rhabdoid tumour, childhood, diagnostic process. PMID:25030315

Prívarová, E; Griš?íková, L; Lokaj, M; Vokurková, J; Mazánek, P; Autrata, R

2014-04-01

250

Novel immunotherapies for hematologic malignancies.  

PubMed

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

Nelson, Michelle H; Paulos, Chrystal M

2015-01-01

251

Therapeutic targeting of malignant glioma.  

PubMed

Glioblastoma Multiforme (GMB) is the most aggressive primary brain tumor with poor survival rates and universal recurrence despite aggressive treatments. Recent research suggested that GBM has multiple glioma cell populations, some of which are organized in a stem cell hierarchical order with different stages of differention. Evidence indicated that recurrence is due to a development or persistance of a subpopulation of these tumor cells which are inherently resistant to treatment and these were defined as the glioma stem-like cells (GSC). It is hypothesized that GSC become highly malignant by accumulating mutations in oncogenic pathways. These cells present with specific surface markers which helps identify them. Targeting the surface markers as well as the signaling pathways of GSCs has been an ongoing research effort. This review focuses on summarizing the current treatment modalities used to glioblastoma treatments, evaluating their efficacy in controlling and eradicatig the GSCs, discussing the machanisms involved in GSC tumor proliferation and resistance to treatments in addition to proposing potential avenues to target GSCs in order to provide a potential cure for this cancer. PMID:25175690

Alexandru-Abrams, Daniela; Jadus, Martin R; Hsu, Frank P; Stathopoulos, Apostolos; Bota, Daniela A

2014-01-01

252

Improved radioimmunotherapy of hematologic malignancies  

SciTech Connect

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

Press, O.W.

1992-03-24

253

Malignant Peripheral Nerve Sheath Tumors  

PubMed Central

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

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

2014-01-01

254

Resistin: insulin resistance to malignancy.  

PubMed

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

Codoñer-Franch, Pilar; Alonso-Iglesias, Eulalia

2015-01-01

255

Transcatheter closure of patent ductus arteriosus in infantile form of Scimitar syndrome with a type II Amplatzer Ductal Occluder  

Microsoft Academic Search

We report a unique case of infantile form of Scimitar syndrome with a patent ductus arteriosus and pulmonary hypertension. The PDA was closed percutaneously using the new Amplatzer Ductal Occluder device type II.

Omar R. J. Tamimi; Mohammed Al-Ghaihab; Ali A. Al Akhfash

2010-01-01

256

Isolated Malignant Melanoma Metastasis to the Pancreas  

PubMed Central

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

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

2013-01-01

257

Malignant teratoid medulloepithelioma: a case report.  

PubMed

A case report "Malignant Teratoid Medulloepithelioma" is herewith presented for its rarity. Medulloepitheliomas are embryonic tumors occurring infancy and are probably congenital. Occasionally they show glial tissue and cartilage. PMID:8157327

Rao, S V; Banerjee, S; Ratnam, G V; Naidu, R S

1993-10-01

258

Primary Malignant Melanoma of the Esophagus  

PubMed Central

Primary malignant melanoma of the esophagus (PMME) comprises only 0.1–0.2% of all malignant esophageal tumors. PMME tumors are highly aggressive and metastasize early via hematogenic and lymphatic pathways. Treatment outcome is poor because the cancer has often advanced at the time of diagnosis. Inoperability, unsuccessful treatment with radiotherapy and chemotherapy in advanced tumors and metastases have contributed to its poor prognosis. Here, we present the endoscopic features, endoscopic ultrasonography findings and management of a PMME case. PMID:23898233

Yonal, Oya; Ibrisim, Duygu; Songur, Yildiran; Cakaloglu, Yilmaz; Tuncer, Koray; Kirimlioglu, Hale; Ozdil, Sadakat

2013-01-01

259

The Management of Pain in Spinal Malignancies  

Microsoft Academic Search

The management of pain caused by malignant involvement of the spine can be challenging. The pain is often multifactorial with\\u000a somatic and neuropathic elements and may be complicated by pre-existing non-malignant pain from arthritis, spinal stenosis,\\u000a or other chronic back syndromes. The mechanics of the back increase the likelihood of incident pain that may be particularly\\u000a difficult to control. Excellent

Susan B. LeGrand; Declan Walsh

260

Malignancies and Catastrophic Anti-phospholipid Syndrome  

Microsoft Academic Search

The catastrophic anti-phospholipid (Asherson’s) syndrome (CAPS) is characterised by the rapid chronological development of\\u000a fulminant thrombotic complications that predominantly affect small vessels and differs from the anti-phospholipid syndrome\\u000a in its accelerated systemic involvement leading to multi-organic failure. Malignancy may play a pathogenic role in patients\\u000a with CAPS, whereas infections are more important as triggering factors in patients without malignancies. CAPS

Wolfgang Miesbach

2009-01-01

261

Jugular vein thrombosis associated with distant malignancy.  

PubMed Central

We describe two patients who developed internal jugular vein thrombosis associated with primary malignant disease arising outside the neck, and in one patient it was the presenting feature. Computed tomography was performed and the findings characteristic of internal jugular vein thrombosis are illustrated. We conclude that malignant disease should be considered in patients presenting with spontaneous internal jugular vein thrombosis with no other predisposing factors and that computed tomography is of value in confirming the diagnosis. Images Figure 1 Figure 2 PMID:3211826

Carrington, B. M.; Adams, J. E.

1988-01-01

262

Malignant syphilis in an immunocompetent female patient.  

PubMed

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

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

2014-12-01

263

Giant chondroid syringoma radiologically mimicking malignancy.  

PubMed

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

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

2013-05-01

264

Giant Chondroid Syringoma Radiologically Mimicking Malignancy  

PubMed Central

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

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

2013-01-01

265

Primary cutaneous leiomyosarcoma: A rare malignant neoplasm.  

PubMed

Primary cutaneous leiomyosarcoma (PCL) is an exceedingly uncommon malignant superficial soft tissue sarcoma with a predilection for middle-aged to elderly male. Morphologic differential diagnosis includes a host of other malignant spindle cell neoplasms, thereby necessitating the use of a panel of immunohistochemical markers to arrive at a definitive diagnosis. We report a case of PCL arising in the right leg of a 70-year-old male. PMID:23984230

Bali, Akshay; Kangle, Ranjit; Roy, Maitrayee; Hungund, Bhagyashree

2013-07-01

266

Malignant Melanoma of the External Auditory Canal  

PubMed Central

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

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

2014-01-01

267

Biopsy findings in malignant histiocytosis presenting as lethal midline granuloma  

Microsoft Academic Search

Nasal biopsy findings in malignant histiocytosis presenting clinically as lethal midline granuloma are characterised by necrosis and infiltration of atypical histiocytic cells with a diffuse positive reaction for non-specific esterase. This cellular character was common to midline malignant reticulosis, and midline malignant reticulosis and malignant histiocytosis are thought to be the same disease. Patterns of histiocytic infiltration in the nasal

K Aozasa

1982-01-01

268

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

PubMed

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

Thouvenin, D

2011-03-01

269

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

PubMed

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

Natawidjaja, Ronald; Wang, Ewen

2014-01-01

270

Granulopoiesis in infantile genetic agranulocytosis. In vitro cloning of marrow cells in agar culture.  

PubMed

A 3-year-old boy and a 2-year-old girl with infantile genetic agranulocytosis have been studied by in vitro cloning of bone marrow cells in agar culture. The patients display a normal concentration of colony forming cells and the morphological maturation is identical with that of control marrow cultured in vitro. The marrow cells of the patients show some degree of auto-stimulation indicating that endogenous production of colony stimulating factor is operating. As an inverse relationship is expected between the peripheral neutrophil count and the percentage of marrow colony forming cells in S-phase a high percentage was expected. On the contrary, we find that the percentage of colony forming cells in S-phase is extremely low indicating a genetic unresponsiveness of granulopoietic precursor cells to feed back regulation in infantile genetic agranulocytosis. PMID:1082629

Olofsson, T; Olsson, I; Kostmann, R; Malmström, S; Thilen, A

1976-01-01

271

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

PubMed

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

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

2013-10-01

272

Surgical treatment of infantile achalasia: a case report and literature review.  

PubMed

Allgrove syndrome is a rare genetic disorder typically manifested by alacrima, achalasia, and adrenal insufficiency, and is one of the rare causes of achalasia in infants. While the gold standard for achalasia treatment in adults is an esophageal myotomy with fundoplication, a standard treatment for infantile achalasia remains undetermined due to the low number of reported cases and rarity of the disease in this age group. We report a 7.7 kg infant with achalasia secondary to Allgrove syndrome who was successfully treated by Heller myotomy and simultaneous Toupet fundoplication. This case represents one of the smallest patients to ever be treated for achalasia and highlights the role that primary surgical therapy may have for the infantile variant of the disease. PMID:24668180

Li, Y; Fallon, S C; Helmrath, M A; Gilger, M; Brandt, M L

2014-06-01

273

Serologic laboratory findings in malignancy.  

PubMed

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

Madrid, Félix Fernández; Maroun, Marie-Claire

2011-11-01

274

Acupuncture for infantile colic: A blinding-validated, randomized controlled multicentre trial in general practice  

PubMed Central

Abstract Objective Infantile colic is a painful condition in the first months of infancy. Acupuncture is used in Scandinavia as a treatment for infantile colic. A randomized controlled trial was carried out with the aim of testing the hypothesis that acupuncture treatment has a clinically relevant effect for this condition. Design A prospective, blinding-validated, randomized controlled multicentre trial in general practice. Research assistants and parents were blinded. Setting 13 GPs’ offices in Southern Norway. Intervention Three days of bilateral needling of the acupuncture point ST36, with no treatment as control. Subjects 113 patients were recruited; 23 patients were excluded, and 90 randomized; 79 diaries and 84 interviews were analysed. Main outcome measures Difference in changes in crying time during the trial period between the intervention and control group. Results The blinding validation questions showed a random distribution with p = 0.41 and 0.60, indicating true blinding. We found no statistically significant difference in crying time reduction between acupuncture and control group at any of the measured intervals, nor in the main analysis of differences in changes over time (p = 0.26). There was a tendency in favour of the acupuncture group, with a non-significant total baseline-corrected mean of 13 minutes (95% CI –24 to + 51) difference in crying time between the groups. This was not considered clinically relevant, according to protocol. Conclusion This trial of acupuncture treatment for infantile colic showed no statistically significant or clinically relevant effect. With the current evidence, the authors suggest that acupuncture for infantile colic should be restricted to clinical trials. PMID:24228748

2013-01-01

275

Living donor liver transplantation for multiple intrahepatic portosystemic shunts after involution of infantile hepatic hemangiomas.  

PubMed

We describe a 6-year-old girl presenting with multiple intrahepatic portosystemic shunts after the involution of infantile hepatic hemangiomas (IHHs), who successfully underwent living donor liver transplantation. The chronological changes of radiologic findings indicated that remnant portovenous shunts at the time of IHHs involution developed gradually on the background of atrophic intrahepatic portal veins. This suggests that patients should be carefully followed up for the late onset of intrahepatic portosystemic shunts after the involution of IHHs. PMID:21683241

Sakamoto, Seisuke; Kasahara, Mureo; Shigeta, Takanobu; Fukuda, Akinari; Kakiuchi, Toshihiko; Miyasaka, Mikiko; Nosaka, Shunsuke; Nakano, Natsuko; Nakagawa, Atsuko; Horikawa, Reiko

2011-06-01

276

Infantile Onset Alexander Disease with Normal Head Circumference: A Genetically Proven Case Report  

PubMed Central

Alexander disease (AD) is an autosomal dominant leukodystrophy which predominantly affects infants and children. The infantile form comprises the most common form of AD. It presents before two years of age and characterized by macrocephaly, psychomotor regression, spasticity, pyramidal sign, ataxia and seizures. The diagnosis is based on magnetic resonance imaging (MRI) findings and confirmed by Glial fibrillary acidic protein (GFAP) gene molecular testing. We report an Indian case with normal head circumference. PMID:25584279

Mehndiratta, Sumit; Faruq, Mohammed; Dwivedi, Manish Kumar; Kapoor, Seema

2014-01-01

277

Reduced Grating Acuity Associated with Retinal Toxicity in Children with Infantile Spasms on Vigabatrin Therapy  

PubMed Central

Purpose To determine whether visual functions are decreased in children with infantile spasms and vigabatrin-attributed retinal toxicity. Methods Contrast sensitivity and grating acuity were measured by using sweep visual evoked potential (VEP) testing in 42 children with infantile spasms (mean age, 29.23 ± 18.31 months). All children had been exposed to vigabatrin (VGB) for a minimum of 1 month. These children were divided into retinal toxicity and no toxicity groupings based on 30-Hz flicker amplitude reductions on the full-field electroretinogram. A multivariate analysis of variance (MANOVA) compared visual functions between children with and without retinal toxicity. Results The MANOVA showed that visual function was significantly affected by VGB retinal toxicity. Further univariate analysis revealed that grating acuity was significantly reduced in children with toxicity. No differences in contrast sensitivity were found between children with toxicity and those without. Conclusions Reduced visual functions from VGB-attributed retinal toxicity can be detected in children with infantile spasms with the sweep VEP. PMID:19279311

Durbin, Sivan; Mirabella, Giuseppe; Buncic, J. Raymond; Westall, Carol A.

2013-01-01

278

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

PubMed

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

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

2015-02-01

279

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

PubMed Central

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

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

2014-01-01

280

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

PubMed Central

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

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

2014-01-01

281

Targeting oncogenic Ras signaling in hematologic malignancies  

PubMed Central

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

Ward, Ashley F.; Braun, Benjamin S.

2012-01-01

282

Primary Gastric Malignant Melanoma Mimicking Adenocarcinoma  

PubMed Central

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

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

2014-01-01

283

Pretargeted Radioimmunotherapy for Hematologic and Other Malignancies  

PubMed Central

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

Press, Oliver W.; Pagel, John M.

2010-01-01

284

Giant Malignant Phyllodes Tumour of Breast  

PubMed Central

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

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

2014-01-01

285

[Malignant schwannoma of the glans penis].  

PubMed

A 58-year-old man presented with a solitary, asymptomatic, firm nodular lesion on his glans. A simple excision was carried out. Follow-up for 1 year failed to reveal either recurrence or metastases. Histologically, there was intradermal proliferation of atypical oval and spindle-shaped cells arranged in fascicles simulating the pattern of neural tumours. Mitotic figures were abundant. Stains for melanin, HMB-45 antigen were negative. Immunohistochemically, tumour cells stained for S-100 protein and vimentin. Malignant schwannoma usually occurs in patients with neurofibromatosis and is located in the subcutaneous tissues. Solitary malignant schwannoma of superficial soft tissue is a rare entity, and there are problems of differential diagnosis against other spindle cell tumours, especially malignant spindle cell melanoma. Their appearance on the glans is rare. PMID:7591773

Aloi, F; Mödl, G; Solaroli, C

1995-09-01

286

Principles of surgery for malignant astrocytomas.  

PubMed

Malignant astrocytomas constitute the most aggressive and common primary tumors of the central nervous system. The standard treatment protocol for these tumors involves maximum safe surgical resection with adjuvant chemoradiotherapy. Despite numerous advances in surgical techniques and adjuncts, as well as the ongoing renaissance in the genetic and molecular characterization of these tumors, malignant astrocytomas continue to be associated with poor prognosis, with median overall survival averaging 15 months for grade IV astrocytomas after standard-of-care treatment. In this article, the goals, principles, techniques, prognostic factors, and modern outcomes of malignant astrocytoma surgery are reviewed. Particular attention is paid to contemporary methods of neuronavigation and functional mapping, the prognostic significance of the extent of resection, surgically delivered adjunctive therapies, and future avenues of research. PMID:25173144

Sayegh, Eli T; Oh, Taemin; Fakurnejad, Shayan; Oyon, Daniel E; Bloch, Orin; Parsa, Andrew T

2014-08-01

287

[Malignant peripheral neuroepithelial tumors in childhood].  

PubMed

The different therapy modalities and course of disease of 42 patients with a malignant peripheral neuroepithelial tumor are retrospectively analyzed. Therapy was completed in 31 children, 25 of whom had a primary localized tumor and 6 a disseminated neuroepithelioma. 17 of the children with a localized illness survive disease free in contrast to no survivor in the group with a disseminated tumor. The effective chemotherapy combining vincristine, adriamycin, ifosfamide and actinomycin D must be complemented by an efficacious local control because malignant peripheral neuroepithelioma tend to recur locally. The prospective analysis of newly diagnosed patients and a standardized therapy regimen will show if malignant peripheral neuroepithelioma represents a distinct tumor entity, different from a Ewings-Sarcoma. PMID:3600673

Beck, J D; Bier, V; Jürgens, H; Brandeis, W; Etspüler, G; Gadner, H; Göbel, U; Schmidt, D; Harms, D

1987-04-01

288

Therapeutic strategies for local recurrent malignant glioma.  

PubMed

Patients with local recurrent malignant gliomas present diagnostic and therapeutic challenges for the neuro-oncology practitioner. Management must be individualized depending on the patient's age, performance status, histology, response to initial therapy, type of recurrence (local vs diffuse), and time since original diagnosis. Treatment options may be classified into surgery, additional radiation therapy, or chemotherapy. Results of treatment are often difficult to determine because of limitations of conventional imaging. Symptom palliation is an important goal that often requires additional adjuvant medical therapy. Quality of life issues are also of paramount importance in patients with recurrent malignant glioma and frequently will guide management strategy. Finally, patients with recurrent malignant gliomas should be encouraged to consider participation in a clinical trial in the hopes that better treatment alternatives will be available for this group of patients within the next few years. PMID:15509482

Sills, Allen K; Duntsch, Chris; Weimar, Jay

2004-12-01

289

Synchronous dual malignancy: successfully treated cases.  

PubMed

The occurrence of a second malignancy in a patient with a known malignant tumour is not uncommon. Synchronous primary malignancies are still unusual We are presenting two cases treated successfully at our centre. Case report 1-A 70 year old female presented to us with lump in right breast for two years and bleeding per vaginum for two years. Histopathology of cervix showed squamous cell carcinoma (large cell non keratinizing) and clinical stage was IIIB. HPE mastectomy specimen showed infiltrating duct carcinoma and stage II. Patient was treated with external beam radiotherapy for carcinoma cervix and breast simultaneously and chemotherapy as required. Patient is on regular follow up and clinically no evidence of disease. Case Report 2 -A 40 year old female presented with mild headache off and on for one year, projectile vomiting for three months and right side facial swelling for three months. HPE brain tissue showed astrocytoma grade II and HPE parotid tumour showed low grade muco-epidermoid carcinoma. Patient was treated with surgery first then radiotherapy. Patient is in regular follow up,having no complain,clinically no neurological dysfunction and no evidence of disease at right parotid and neck region. Thus it was concluded that patients responded well to treatment. Treatment strategies in case of synchronous double malignancy depend on treating the malignancy that is more advanced first or sometimes both could be treated simultaneously. In our case we concluded that synchronous double malignancy may be treated successfully. Both sites should be treated fully as if they were occurring separately considering toxicities. PMID:18079578

Agrawal, Rashi

2007-01-01

290

[Chemotherapy for malignant gliomas: an update].  

PubMed

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

Wakabayashi, Toshihiko; Natsume, Atsushi; Fujii, Masazumi

2013-10-01

291

Malignant peritoneal mesothelioma following asbestos exposure.  

PubMed

Clinical, epidemiological, and pathological studies have demonstrated that asbestosis plays a major role in the etiology of mesothelioma. The direct exposure of workers in industrialized countries to asbestos fibers and nonoccupational household contact elevate the risk of malignant mesothelioma. An increased risk has been found in certain geographic areas of Turkey due to the presence of asbestos deposits and the use of the material known as "white soil" as an insulation. We present a malignant mesothelioma case from rural eastern Turkey with a history of asbestos exposure from using "white soil". We review the epidemiological aspects of asbestos as they relate to mesothelioma. PMID:9216805

Manavo?lu, O; Orhan, B; Evrensel, T; Ozçelik, T; Yolcu, I; Kunt, E

1996-01-01

292

Bilateral Metallic Stenting in Malignant Hilar Obstruction  

PubMed Central

Endoscopic palliative biliary drainage is considered as a gold standard treatment in advanced or inoperable hilar cholangiocarcinoma. Also, metal stents are preferred over plastic stents in patients with >3 months life expectancy. However, the endoscopic intervention of advanced hilar obstruction is often more challenging and complex than that of distal malignant biliary obstructions. In this literature review, we describe the issues commonly encountered during endoscopic unilateral (single) versus bilateral (multiple) biliary stenting for malignant hilar obstruction. Also, we provide technical guidance to improve the technical success rates and patient outcomes, focusing on bilateral metallic stenting techniques such as stent-in-stent or side-by-side deployment. PMID:25325005

Moon, Jong Ho; Park, Sang-Heum

2014-01-01

293

Case Report: Pulmonary metastases of malignant meningioma  

PubMed Central

Meningioma accounts for approximately one-third of primary central nervous system tumors. Most meningiomas are benign, although up to one third are classified as atypical or malignant. We describe a 63-year Caucasian male presenting with pleural metastases from an intracranial meningioma. Distant metastases from meningiomas are infrequently found in clinical practice and mostly are associated with atypical or malignant meningiomas. There is no standard treatment; however surgical resection of both the primary and metastatic lesions is the safest therapy. The overall prognosis of atypical meningiomas is poor. Our patient died one week after discharge from our hospital. PMID:25254095

Basunaid, Suhail; Franssen, Frits M.E.; Accord, Ryan; Hamid, Myrurgia Abdul; Mahesh, Shekar; Baumert, Brigitta G.; Schijns, Olaf E.M.G.

2014-01-01

294

Anti-angiogenic approaches to malignant gliomas.  

PubMed

Despite advances in multidisciplinary approaches, the prognosis for most patients with malignant gliomas is poor. Malignant gliomas are highly vascularized tumors with elevated expression of vascular endothelial growth factor (VEGF), an important mediator of angiogenesis. Recent studies of bevacizumab, an anti-VEGF monoclonal antibody, alone or associated with chemotherapy, have demonstrated high response rates and prolongation of median and 6-month progression-free survival. Clinical evaluation of several multitarget small molecule tyrosine kinase inhibitors is ongoing. Other promising antiangiogenic compounds are cilengitide and continuous temozolomide. Toxicity is acceptable. Open issues are represented by patterns of tumor progression, resistance mechanisms and biomarkers. PMID:22229250

Soffietti, R; Trevisan, E; Bertero, L; Bosa, C; Ruda, R

2012-03-01

295

Cutaneous Manifestations of Internal Malignant Disease  

PubMed Central

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

McLean, David I.

1987-01-01

296

Predominantly Fibrous Malignant Mesothelioma in a Cat  

PubMed Central

Malignant mesotheliomas are rare tumours in domestic cats. They occur within the abdominal or thoracic cavity and are regularly associated with pleural or peritoneal effusions. The histopathological diagnosis can be quite challenging, as these neoplasms may resemble other epithelial or mesenchymal neoplasms. However, differentiation can be achieved by immunohistochemistry in most cases. Here we describe the rare case of a malignant mesothelioma of the fibrous subtype in the thoracic cavity of a cat and discuss differential diagnoses and treatment options for this tumor type. PMID:20613995

Weiss, Alexander Th. A.; da Costa, Afonso B.; Klopfleisch, Robert

2010-01-01

297

Effective treatment for malignant mediastinal teratoma  

Microsoft Academic Search

Primary malignant mediastinal teratoma is a rare tumour previously regarded as inevitably fatal. In a series of eight male patients with a mean age of 24 years five remain alive and well. All patients showed raised serum concentrations of human chorionic gonadotrophin or alpha fetoprotein. The patients were treated with intermittent combination chemotherapy that included cisplatin. Six patients responded to

D Parker; C P Holford; R H Begent; E S Newlands; G J Rustin; A R Makey; K D Bagshawe

1983-01-01

298

Malignant triton tumors of the spine.  

PubMed

Malignant triton tumors (MTTs) are malignant peripheral nerve sheath tumors with rhabdomyosarcomatous differentiation. Malignant triton tumors affecting the spine are rare but present special challenges to the neurosurgeon. The authors report on 2 new cases of spinal MTTs, and analyze the 8 previously reported cases found via database search. The patients include a 15-year-old girl with thoracic MTT, and a 24-year-old man with lumbosacral MTT; both patients underwent radical resection with spinal stabilization. When these cases were combined with the literature results there was a male/female ratio of 6:4, and an age range of 15-67 years (median 37.5). Nine patients presented with symptoms related to the spinal cord, cauda equina, or nerve root compression. Four patients had undergone previous radiotherapy, and 2 had neurofibromatosis Type 1. Five cases of MTT were lumbosacral, 4 were thoracic, and 1 was cervical. Seven patients had intradural extension of tumor. All patients underwent some form of surgery, with 8 having total macroscopic excision. However, 6 patients required subsequent operations. In the 8 patients for which survival data was available, median time from diagnosis to death was 12 months (range 3-16). Malignant triton tumors are rare but should be included in the differential diagnosis of spinal tumors, particularly in patients who have undergone previous radiotherapy or who have neurofibromatosis. The authors suggest roles for radical surgery and multidisciplinary management. PMID:18518679

James, Greg; Crocker, Matthew; King, Andrew; Bodi, Istvan; Ibrahim, Ahmed; Chitnavis, Bhupal P

2008-06-01

299

Microsphere radioembolization of liver malignancies: current developments.  

PubMed

The worldwide incidence of hepatic malignancies, both primary and secondary, exceeds 1 000 000 new cases each year. The poor prognosis of patients suffering from hepatic malignancies has lead to the development of a liver directed therapy which consists of intra-arterial administration of radioactive particles through a catheter. Yttrium-90 ((90)Y) microspheres are increasingly applied for this purpose, and up to now nearly all clinical experience with radioembolization has been obtained with these microspheres. The response rate is very promising in both patients with primary and metastatic liver malignancies. Currently, two commercially available (90)Y microsphere devices are in use clinically, both as a first-line treatment and in a salvage setting. Unfortunately, the use of a pure beta-emitter like (90)Y hampers acquisition of high quality nuclear images for pre-treatment work-up and follow-up. This issue was addressed by the development of holmium-166 ((166)Ho) and rhenium-188 ((188)Re) microspheres, which emit both beta-particles for therapeutic purposes and gamma-photons for nuclear imaging. Moreover, since holmium is paramagnetic it allows for magnetic resonance imaging. (166)Ho loaded poly(L-lactic acid) microspheres have been thoroughly investigated in a preclinical setting, and recently the first clinical results for (188)Re microspheres were reported. This review provides an overview of the current status and (pre-)clinical developments of radioactive microspheres for treatment of liver malignancies. PMID:19521312

Bult, W; Vente, M A D; Zonnenberg, B A; Van Het Schip, A D; Nijsen, J F M

2009-06-01

300

Second primary malignancies in thyroid cancer patients  

Microsoft Academic Search

The late health effects associated with radioiodine (131I) given as treatment for thyroid cancer are difficult to assess since the number of thyroid cancer patients treated at each centre is limited. The risk of second primary malignancies (SPMs) was evaluated in a European cohort of thyroid cancer patients. A common database was obtained by pooling the 2-year survivors of the

C Rubino; F de Vathaire; M E Dottorini; P Hall; C Schvartz; J E Couette; M G Dondon; M T Abbas; C Langlois; M Schlumberger

2003-01-01

301

Malignant phyllodes tumor of the left atrium  

PubMed Central

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

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

2014-01-01

302

Integrating the Diagnosis of Childhood Malignancies  

Microsoft Academic Search

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

DOLORES LÓPEZ-TERRADA

303

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 ...

304

Multidrug resistance (MDR) genes in haematological malignancies  

Microsoft Academic Search

The emergence of drug resistant cells is one of the main obstacles for successful chemotherapeutic treatment of haematological malignancies. Most patients initially respond to chemotherapy at the time of first clinical admission, but often relapse and become refractory to further treatment not only to the drugs used in the first treatment but also to a variety of other drugs. Laboratory

K. Nooter; P. Sonneveld

1993-01-01

305

Angiogenesis in pre-malignant conditions  

PubMed Central

Evidence from human studies suggests that angiogenesis commences during the pre-malignant stages of cancer. Inhibiting angiogenesis may, therefore, be of potential value in preventing progression to invasive cancer. Understanding the mechanisms inducing angiogenesis in these lesions and identification of those important in human tumourigenesis are necessary to develop translational strategies that will help realise the goal of angioprevention. PMID:18941463

Menakuru, S R; Brown, N J; Staton, C A; Reed, M W R

2008-01-01

306

Treating Malignant Peripheral Nerve Sheath Tumors  

Cancer.gov

In this trial, patients with unresectable malignant peripheral nerve sheath tumors (MPNSTs) will be treated with neoadjuvant chemotherapy followed by surgery and/or radiation therapy and more chemotherapy. Neoadjuvant chemotherapy is given to reduce the size of the MPNSTs prior to the administration of definitive local therapy (surgery and/or radiation therapy).

307

CE Certificate - Malignant Brain & CNS online training  

Cancer.gov

Certificate of Attendance The Participant is hereby granted 2 CEUs for attending the Multiple Primary and Histology Coding Rules Malignant Brain and CNS - Breeze online training NCRA Event Number 2006-246 VtÜÉÄ [t{Ç ]É{ÇáÉÇ NCI-SEER

308

Tensional homeostasis and the malignant phenotype  

Microsoft Academic Search

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

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

2005-01-01

309

Hyperparathyroidism After Irradiation for Childhood Malignancy  

SciTech Connect

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

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

2009-03-15

310

Non-cytotoxic Therapies for Malignant Gliomas  

Microsoft Academic Search

Malignant gliomas cause 2% of cancer deaths in western countries, and even the most intensive combinations of radiotherapy and chemotherapy cannot be curative. New chemotherapeutic drugs and alternative therapeutic modalities are strongly needed. Huge efforts are directed towards the development of innovative strategies for targeting and mending the specific molecular alterations in tumor cells (translational research). This review aims to

Umberto Basso; Mario Ermani; Francesca Vastola; Alba A. Brandes

2002-01-01

311

Ultrastructural features of diffuse malignant mesotheliomas  

Microsoft Academic Search

The distinction of malignant mesothelioma from tumors metastatic to the serosal membranes can often be made based on the results of histochemical or immunohistochemical studies. However, in some cases, these techniques are inadequate to make a firm diagnosis. In these instances, electron microscopic studies with the observation of a constellation of characteristic ultrastructural findings may permit an unequivocal diagnosis of

Tim D Oury; Samuel P Hammar; Victor L Roggli

1998-01-01

312

Ultrastructural features of diffuse malignant mesotheliomas.  

PubMed

The distinction of malignant mesothelioma from tumors metastatic to the serosal membranes can often be made based on the results of histochemical or immunohistochemical studies. However, in some cases, these techniques are inadequate to make a firm diagnosis. In these instances, electron microscopic studies with the observation of a constellation of characteristic ultrastructural findings may permit an unequivocal diagnosis of mesothelioma. PMID:9865823

Oury, T D; Hammar, S P; Roggli, V L

1998-12-01

313

Anogenital malignancies and premalignancies: facts and controversies.  

PubMed

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

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

2013-01-01

314

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

PubMed Central

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

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

2013-01-01

315

What Are the Key Statistics about Malignant Mesothelioma?  

MedlinePLUS

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

316

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

PubMed

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

Karatolios, Konstantinos; Pankuweit, Sabine; Maisch, Bernhard

2013-05-01

317

Carisbamate acutely suppresses spasms in a rat model of symptomatic infantile spasms  

PubMed Central

Purpose Infantile spasms are the signature seizures of West syndrome. The conventional treatments for infantile spasms, such as adrenocorticotropic hormone (ACTH) and vigabatrin, are not always effective, especially in symptomatic infantile spasms (SIS). We tested the efficacy of carisbamate, a novel neurotherapeutic drug, to suppress spasms in the multiple-hit rat model of SIS and compared it with phenytoin to determine if its effect is via sodium-channel blockade. Methods Sprague-Dawley rats received right intracerebral infusions of doxorubicin and lipopolysaccharide at postnatal day 3 (PN3) and intraperitoneal p-chlorophenylalanine at PN5. A single intraperitoneal injection of carisbamate was administered at PN4, after the onset of spasms, at the following doses: 10mg/kg (CRS-10); 30 mg/kg (CRS-30); 60 mg/kg (CRS-60) and was compared to vehicle-injected group (VEH). Video-monitoring of PN6–7 CRS-60 or VEH injected pups was also done. Key findings Carisbamate acutely reduced both behavioral spasms (CRS-30 and CRS-60 groups only) and electroclinical spasms, during the first 2–3 post-injection hours, without detectable toxicity or mortality. In contrast, phenytoin (20 or 50 mg/kg) failed to suppress spasms. Significance Our findings provide preclinical evidence that carisbamate displays acute anticonvulsive effect on spasms through a sodium channel-independent mechanism. As spasms in the multiple-hit rat model are refractory to ACTH and transiently sensitive to vigabatrin, carisbamate may constitute a candidate new therapy for SIS, including the ACTH-refractory spasms. Further confirmation with clinical studies is needed. PMID:21770922

Ono, Tomonori; Moshé, Solomon L.; Galanopoulou, Aristea S.

2011-01-01

318

DIFFUSION TENSOR IMAGING DETECTS ABNORMALITIES IN THE CORTICOSPINAL TRACTS OF NEONATES WITH INFANTILE KRABBE DISEASE  

PubMed Central

Background and Purpose It is not possible to determine if babies diagnosed with Krabbe disease through statewide newborn screening programs will develop disease as infants, juveniles or adults. The only available treatment for this fatal neurodegenerative condition is unrelated umbilical cord transplantation but this treatment is only effective before clinical symptoms appear. Therefore, a marker of disease progression is needed. The purpose of this study was to evaluate the use of Diffusion Tensor Imaging (DTI) with fiber tracking in identifying early changes in major motor tracts of asymptomatic neonates with infantile Krabbe disease. Methods Six babies with infantile Krabbe disease identified because of family history had a brain MRI within the first 4 weeks of life. Six direction DTI and quantitative tractography of the corticospinal tracts were performed. Hypothesis tests, one for each hemisphere, were used to test whether the FA ratio of the babies with infantile Krabbe disease was significantly different from 45 age and gender matched controls. Results The average FA ratio for the Krabbe patients was 0.89 and 0.87 for left and right tracts, respectively (p= 0.002 and p<0.001). After adjusting for gestational age, gestational age at birth, birth weight, gender and race, the 6 Krabbe patients had significantly lower FA values than the controls (p<0.001). Conclusions DTI with quantitative tractography detected significant differences in the corticospinal tracts of asymptomatic newborns that had the early onset form of Krabbe Disease. Once standardized and validated, this tool has the potential to be used as a marker of disease progression in babies diagnosed through statewide newborn screening programs. PMID:19386732

Escolar, Maria L.; Poe, Michele D.; Smith, J Keith; Gilmore, John H.; Kurtzberg, Joanne; Lin, Weili; Styner, Martin

2009-01-01

319

Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis.  

PubMed

Infantile myofibromatosis (IM) is a rare disorder characterized by the development of benign tumors in the skin, muscle, bone, and viscera. The incidence is 1/150,000 live births and the disease is the most common cause of fibrous tumors in infancy. Cases which lack visceral involvement generally have a more benign course, usually with spontaneous regression of the tumors. On the other hand, the prognosis tends to be unfavorable when there is involvement of vital organs, which can lead to significant mortality. The identification of rare variants in genes that may cause IM is the first step towards the possibility of targeted treatments; however, the molecular pathogenesis of IM is poorly understood. In the present study, we report the results of exome sequence analysis of two brothers diagnosed with visceral multicentric infantile myofibromatosis, and their healthy consanguineous parents. In the two brothers we identified novel homozygous variants in NDRG4 gene (N-myc downregulated gene family member 4) and in RLTPR gene (RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing). The healthy parents were heterozygous for both variants. Consistent with the phenotype of IM, NDRG4 is a tumor-related gene; its expression has been shown to be decreased in numerous tumor types, suggesting that it might be a tumor suppressor gene. Additionally, studies have demonstrated that NDRG4 may have a role in cell survival and tumor invasion. We thus propose that this homozygous variant in NDRG4 may be the causative variant of the autosomal recessive form of IM in the studied family and that it should be investigated in other cases of autosomal recessive infantile myofibromatosis. PMID:25241110

Linhares, Natália D; Freire, Maíra C M; Cardenas, Raony G C C L; Pena, Heloísa B; Bahia, Magda; Pena, Sergio D J

2014-01-01

320

Infantile Hepatitis B in Immunized Children: Risk for Fulminant Hepatitis and Long-Term Outcomes  

PubMed Central

Background Infantile hepatitis B after neonatal immunoprophylaxis is a rare yet distinct disease. This study aimed to analyze the long-term outcomes and risk factors in immunized infants with hepatitis B. Methods The clinical parameters and outcomes of 41 infants born after universal immunization, and admitted for HBV-positive hepatitis were studied. All patients were followed for at least 6 months (median ?=?4.4 years, range 0.6–18.1 years). Patient survival, changes of HBsAg and HBeAg status, and complications were analyzed. Results Among the 41 cases (32 males, 9 females), 21 presented with fulminant hepatitis (FH), and 20 with non-fulminant hepatitis (NFH). Ninety-five percent (36/38) of the mothers were positive for hepatitis B surface antigen (HBsAg). Multivariate analyses revealed younger age of onset (age <7 months) and negative maternal hepatitis B e antigen (HBeAg) were associated with FH (p?=?0.03 and p?=?0.01, respectively). An infantile fulminant hepatitis B risk score using maternal/infant HBeAg positivity and onset age was proposed. Among the FH cases, the rate of mortality, HBsAg clearance, and chronic HBV infection were 47.6%, 38.1%, and 14.3%, respectively. Among the NFH cases, 35% developed chronic infection. Of the 9 chronically infected children received long-term follow-up, 8 had HBeAg seroconversion before 4 years of age. One case of FH developed hepatocellular carcinoma 14 years later. Conclusions Maternal HBsAg + /HBeAg- and early onset age were risk factors for FH in immunized infants. A significant portion of patients with FH or NFH evolve to chronic HBV infection, with HBeAg seroconversion in young childhood. Close surveillance for hepatocellular carcinoma is warranted in patients surviving infantile hepatitis B. PMID:25380075

Tseng, Yu-Ru; Wu, Jia-Feng; Kong, Man-Shan; Hu, Fu-Chang; Yang, Yao-Jong; Yeung, Chun-Yan; Huang, Fu-Chen; Huang, I-Fei; Ni, Yen-Hsuan; Hsu, Hong-Yuan; Chang, Mei-Hwei; Chen, Huey-Ling

2014-01-01

321

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

PubMed Central

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

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

2015-01-01

322

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

PubMed

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

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

2015-01-01

323

An adhesive factor found in strains of Escherichia coli belonging to the traditional infantile enteropathogenic serotypes  

Microsoft Academic Search

Escherichia coli strains isolated from outbreaks of diarrheal disease were tested for the presence of adhesive factors. Fifty-one of these\\u000a strains belonged to traditional infantile entero-pathogenic serotypes (EPEC) and 17 belonged to other serotypes. None of these\\u000a strains were enterotoxigenic and none possessed colonization factors CFA\\/I or CFA\\/II, which have been described among strains\\u000a of enterotoxigenicE. coli (ETEC). EnterotoxigenicE. coli

A. Cravioto; R. J. Gross; S. M. Scotland; B. Rowe

1979-01-01

324

Dramatic Shift in the Infantile Hemangioma Treatment Paradigm at a Single Institution  

PubMed Central

Historically, the first line of treatment for infantile hemangioma (IHs) has been oral corticosteroids, but because of recent discoveries recognizing the effectiveness of oral and topical beta-blockers, IH management is dynamically changing. With these new treatment options, some physicians are altering the way they manage IHs despite having little evidence based data on the treatment methods. Highlighting treatment changes at a single large tertiary pediatric referral center, we conclude that despite the numerous studies already published on this topic, more reliable prospective studies are needed to determine the safety, efficacy, and best treatment algorithms for the use of topical and oral beta-blockers for the treatment of IHs. PMID:24117504

Gomulka, Jennifer; Siegel, Dawn H.

2014-01-01

325

[Infantile perineal protrusion is a harmless condition with multiple differential diagnoses].  

PubMed

Among girls the frequency of infantile perineal protrusion (IPP) is 13%. The skin-coloured protrusion is thought to represent a congenital weakness in the perineum and usually resolves spontaneously. We report a case of a 13 year-old girl who for nine years had been examined and treated for haemorrhoids and other relevant differential diagnoses before being diagnosed with IPP. During this time she developed iatrogenic contact allergy after frequent application of ointment for haemorrhoids. Recognition of this common and harmless condition renders further examination and treatment unnecessary. PMID:21985835

Haastrup, Maija Dalgaard; Bygum, Anette

2011-10-10

326

ERYTHROCYTE OSMOTIC RESPONSE TEST ON MALIGNANT HYPERTHERMIA-SUSCEPTIBLE PIGS  

E-print Network

NOTE ERYTHROCYTE OSMOTIC RESPONSE TEST ON MALIGNANT HYPERTHERMIA-SUSCEPTIBLE PIGS W. A. KING L a group of 17 young Belgian Landrace male pigs, of which io were classified as malignant hyperthermia of the hypothesis of a membrane defect being at the origin of malignant hyperthermia, an abnormality which

Paris-Sud XI, Université de

327

Malignant Colojejunal Fistula First Discovered on CT: A Case Report  

PubMed Central

Benign coloenteric fistula is an uncommon condition. It may occur secondary to diverticular disease, peptic ulcer, inflammatory bowel disease and so on. Malignant coloenteric fistula is a rare occurrence. Here we present a rare case of malignant colojejunal fistula secondary to locally invading colonic malignancy.

Hiremath, Rudresh; K.C., Aishwarya; Tippani, Deepthi; C.R., Aruna

2014-01-01

328

Nonmammary malignancies of the breast: Ultrasound, CT, and MRI  

Microsoft Academic Search

The three major categories of nonmammary malignancies of the breast include primary and secondary lymphoreticular malignancy, primary and secondary sarcoma, and hematogenous metastasis. This article describes the imaging features of 35 nonmammary malignancies of the breast and axilla with histopathologic confirmation. These include primary and secondary breast lymphoma, primary axillary nodal lymphoma, metastatic acute lymphatic leukemia, metastatic plasmacytoma, granulocytic sarcoma,

Wei Tse Yang; Malai Muttarak; Lorraine W. C Ho

2000-01-01

329

Endosonographic differentiation of benign and malignant stromal cell tumors  

Microsoft Academic Search

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

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

1997-01-01

330

Pediatric malignancies presenting as a possible infectious disease  

Microsoft Academic Search

BACKGROUND: The clinical, laboratory, and radiological features of malignancy can overlap with those of infection. The purpose of this study was to determine the findings in children who were initially thought to have an infectious disease but ultimately proved to have a malignancy. METHODS: The database of patients diagnosed with a malignancy in the Northern Alberta Children's Cancer Program (NACCP)

Sarah E Forgie; Joan L Robinson

2007-01-01

331

Cytogenetic study of malignant triton tumor: a case report  

Microsoft Academic Search

Malignant triton tumor (MTT) is a highly malignant neoplasm, classified as a variant of malignant peripheral nerve sheath tumor (MPNST) with rhabdomyoblastic differentiation. Few cytogenetic studies of MTT have been reported using conventional cytogenetic analysis. Here, we report a comprehensive cytogenetic study of a case of MTT using G-banding, Spectral Karyotyping™, and fluorescence in situ hybridization (FISH) for specific regions.

Mary H. Haddadin; Anita L. Hawkins; Patricia Long; Laura A. Morsberger; Dawn Depew; Jonathan I. Epstein; Constance A. Griffin

2003-01-01

332

Some Benign and Malignant Neoplasms of Michigan Cottontail Rabbits  

Microsoft Academic Search

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

L. D. FAY; Center Route

333

Malignant struma ovarii: a case report.  

PubMed

We present a case of a 40-yr-old woman diagnosed with a primary malignant struma ovarii. The patient was admitted with the complaint of pelvic pain and a large pelvic mass in the mid-portion of lower abdomen on gynecological examination. Pre-operative tumor markers and routine biochemistry were unremarkable. She was treated with total abdominal hysterectomy and right salpingo-oopherectomy. Post-operatively, she was diagnosed with a malignant struma ovarii through the usage of histopathological criteria similar to the guidelines for primary thyroid gland disease. The patient was subsequently performed left salpingo-oopherectomy and retroperitoneal pelvic lympadenectomy for re-staging. Although, left ovary and lymph nodes were histopathologically normal, she was offered thyroidectomy but she refused to accept the offer. Thyroglobulin level was monitored in the post-operative period. She is free of the disease for 18 months. PMID:20119594

Yücesoy, Gülseren; Cakiroglu, Yigit; Muezzinoglu, Bahar; Besnili, Birsen; Yucesoy, Izzet

2010-02-01

334

Malignant Struma Ovarii: A Case Report  

PubMed Central

We present a case of a 40-yr-old woman diagnosed with a primary malignant struma ovarii. The patient was admitted with the complaint of pelvic pain and a large pelvic mass in the mid-portion of lower abdomen on gynecological examination. Pre-operative tumor markers and routine biochemistry were unremarkable. She was treated with total abdominal hysterectomy and right salpingo-oopherectomy. Post-operatively, she was diagnosed with a malignant struma ovarii through the usage of histopathological criteria similar to the guidelines for primary thyroid gland disease. The patient was subsequently performed left salpingo-oopherectomy and retroperitoneal pelvic lympadenectomy for re-staging. Although, left ovary and lymph nodes were histopathologically normal, she was offered thyroidectomy but she refused to accept the offer. Thyroglobulin level was monitored in the post-operative period. She is free of the disease for 18 months. PMID:20119594

Cakiroglu, Yigit; Muezzinoglu, Bahar; Besnili, Birsen; Yucesoy, Izzet

2010-01-01

335

Malignant syphilis in an AIDS patient.  

PubMed

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

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

2014-11-19

336

Venous surgery in resection for abdominal malignancy.  

PubMed

Vascular surgical techniques were applied to the radical resection of carcinoma of the liver, biliary tract and pancreas. Distal and proximal portal vein reconstruction, respectively, was carried out in 16 patients with carcinoma of the pancreas and 16 with cancer of the liver and biliary tract. Hepatic vein trunks with tumour involvement were resected and reconstructed by various techniques in six patients. A suprarenal segment of the inferior vena cava was completely replaced by a prosthetic graft in three patients with retroperitoneal malignancy. Venous surgery increased the resectability of malignant tumours and preserved circulation in the organ remnant, although the long-term effect on survival is not yet clear. Vascular surgical techniques should be applied more widely in the field of general abdominal surgery. PMID:8076012

Sakaguchi, S; Nakamura, S

1993-04-01

337

Targeting Sphingosine-1-Phosphate in Hematologic Malignancies  

PubMed Central

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

Stevenson, Christina E.; Takabe, Kazuaki; Nagahashi, Masayuki; Milstien, Sheldon; Spiegel, Sarah

2012-01-01

338

Malignant transformation of superficial peritoneal endometriosis lesion.  

PubMed

A 63-year-old woman with no medical history underwent an abdominal surgery with hysterectomy and bilateral salpingo-oophorectomy for a 10 cm peritoneal cyst with increased cancer antigene-125. A large suspicious tumour of the Douglas space, with contact to the uterus and the rectal wall was described. The rest of the exploration was normal, specially the rest of the peritoneum. Histopathology revealed a malignant transformation of a superficial peritoneal endometriosis. Secondary surgery was thus completed by laparoscopy with bilateral pelvic and para-aortic lymph node dissections, omentectomy and multiple peritoneal biopsies. All staging samples were free of cancer; therefore no complementary therapy was administered. After 18 months of follow-up, consisting of clinical examination and pelvis magnetic resonance imaging every 6 months, we did not observe any recurrence. Malignant transformation of superficial peritoneal endometriosis is a rare disease and surgical management seems to be the main treatment. PMID:23978494

Marchand, Eva; Hequet, Delphine; Thoury, Anne; Barranger, Emmanuel

2013-01-01

339

Large ulcerated cecal lipoma mimicking malignancy  

PubMed Central

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

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

2010-01-01

340

[Biochemical modulation of chemotherapy of urologic malignancies].  

PubMed

Generally speaking, the outcome of cancer chemotherapy for urologic malignancies is poor. This poor response is attributed to the weak sensitivity to anti-cancer agents, represented by renal cell cancer, and the advanced age of most patients to tolerate the toxicities of the drugs, as is experienced in prostate cancer patients, which leads to insufficient therapy. Biochemical modulation was initially used to refer to the enhancement of the effect of 5-FU by modulating its pharmacological action by the addition of other drugs. The concept was expanded to the enhancement of the effect of the chemotherapeutic agents, potentiating the pharmacological action and/or reducing the toxicity, by means of any drug or biological modality. This preface is for the following 7 articles which were based on the presentations at the Symposium of 42nd Annual Meeting of Central Section of Japanese Urological Association in 1992, entitled as "Biochemical modulation of chemotherapy of urologic malignancies". PMID:8285170

Okada, K

1993-12-01

341

[Neuroleptic malignant syndrome after cardiac surgery].  

PubMed

A 64-year-old man without any psychiatric disease, including Parkinson's disease underwent aortic valve replacement and mitral valve replacement for rheumatic valvular disease. One day after the cardiac surgery, he developed hyperthermina, muscle rigidity, coma and delirium, and his serum creatine kinase (CK) level was elevated. In spite of his negative brain computed tomography(CT), his consciousness remained unclear. He had received diazepam, flunitrazepam and buprenorphine after the cardiac surgery because of his hyper-reactivity. Although these drugs were not typical antipsychotics' causing neuroleptic malignant syndrome (NMS), NMS was strongly suspected because of his clinical appearance. Dantrolene was administered in a dose of 60 mg per day and he recovered consciousness and his CK level began to decrease. We reported a case of neuroleptic malignant syndrome after cardiac surgery. PMID:24322311

Uehara, Mayuko; Inaoka, Masami; Miyaki, Yasuko; Nakashima, Shinji; Fuzii, Akira; Higami, Tetsuya

2013-11-01

342

Magnetic resonance lymphography in gynaecological malignancies  

PubMed Central

Abstract Following the submission of this article to Cancer Imaging, unfortunately the European manufacturer of ferumoxtran-10 (Guerbet) has withdrawn the product pending further phase III studies. This is secondary to the view of the Committee for Medicinal Products for Human Use that the phase III data did not provide adequate statistical demonstration of the product's efficacy. Magnetic resonance lymphography holds much promise for the non-invasive evaluation of lymph nodes. The technique utilizes ultrasmall superparamagnetic particles of iron oxide and has been shown to be highly sensitive and specific in the diagnosis of malignant lymph nodes. This article reviews the technique and the performance of magnetic resonance lymphography in studies to date; alternative newer methods of nodal assessment such as fluorodeoxyglucose-positron emission tomography/computed tomography and diffusion-weighted magnetic resonance imaging are also discussed, with emphasis on gynaecological malignancies. PMID:20233680

Narayanan, Priya; Rockall, Andrea

2010-01-01

343

Wnt Signaling in Normal and Malignant Hematopoiesis  

PubMed Central

One of the most remarkable characteristics of stem cells is their ability to perpetuate themselves through self-renewal while concomitantly generating differentiated cells. In the hematopoietic system, stem cells balance these mechanisms to maintain steady-state hematopoiesis for the lifetime of the organism, and to effectively regenerate the system following injury. Defects in the proper control of self-renewal and differentiation can be potentially devastating and contribute to the development of malignancies. In this review, we trace the emerging role of Wnt signaling as a critical regulator of distinct aspects of self-renewal and differentiation, its contribution to the maintenance of homeostasis and regeneration, and how the pathway can be hijacked to promote leukemia development. A better understanding of these processes could pave the way to enhancing recovery after injury and to developing better therapeutic approaches for hematologic malignancies. PMID:23378582

Lento, William; Congdon, Kendra; Voermans, Carlijn; Kritzik, Marcie; Reya, Tannishtha

2013-01-01

344

Primary malignant rhabdoid tumor of the cerebellum  

Microsoft Academic Search

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

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

1997-01-01

345

Primary Malignant Melanoma in the Pineal Region  

PubMed Central

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

Hong, Yong-Kil

2014-01-01

346

Green Tea: Nature's Defense against Malignancies  

Microsoft Academic Search

The current practice of introducing phytochemicals to support the immune system or fight against diseases is based on centuries old traditions. Nutritional support is a recent advancement in the domain of diet-based therapies; green tea and its constituents are one of the important components of these strategies to prevent and cure various malignancies. The anti-carcinogenic and anti-mutagenic activities of green

Masood Sadiq Butt; Muhammad Tauseef Sultan

2009-01-01

347

[Malignant gynecologic neoplasms during menopause. Authors' experience].  

PubMed

From January 1991 to December 1993 409 post-menopausal women were observed at the Center for the Study of Climateric Disorders of the Department of Obstetrics and Gynecology of the University of L'Aquila. The aim of the study was to evaluate the incidence of gynecologic neoplasm among this group of women. A total of 48 women at risk for malignant tumors were detected. The relationship between the climateric age and the oncologic risk is discussed. PMID:7478091

Patacchiola, F; Carta, G; Mascaretti, G; Di Stefano, L; Panella, A; Facioni, L; Porzio, G

1995-06-01

348

CEBPA point mutations in hematological malignancies  

Microsoft Academic Search

The CCAAT\\/enhancer-binding protein-alpha (CEBPA) is a transcription factor strongly implicated in myelopoiesis through control of proliferation and differentiation of myeloid progenitors. Recently, several works have reported the presence of CEBPA-acquired mutations in hematological malignancies. In this work, we analyzed characteristics of mutations and their correlation with disease characteristics described in previous studies. In the 1175 patients reported, 146 CEBPA mutations

H Leroy; C Roumier; P Huyghe; V Biggio; P Fenaux; C Preudhomme

2005-01-01

349

[Malignant hyperthermia in a child (case report)].  

PubMed

This case report describes the malignant hyperthermia (MH) accident in 12-year old boy undergoing maxillary-facial surgery: Crisis began 30 min after normal sevoflurane induction. Patient was successfully treated hence the MH exhibited abortive course. One should considerthis case as urgent reason for dantrolen registration in Russia, because it is not officially available yet. And it also demonstrates the necessity for more vigilant relation to the MH especially in pediatric anaesthesiology. PMID:22993932

Lemeneva, N V

2012-01-01

350

Therapeutic strategies for local recurrent malignant glioma  

Microsoft Academic Search

Opinion statement  Patients with local recurrent malignant gliomas present diagnostic and therapeutic challenges for the neuro-oncology practitioner.\\u000a Management must be individualized depending on the patient’s age, performance status, histology, response to initial therapy,\\u000a type of recurrence (local vs diffuse), and time since original diagnosis. Treatment options may be classified into surgery,\\u000a additional radiation therapy, or chemotherapy. Results of treatment are often

Allen K. Sills; Chris Duntsch; Jay Weimar

2004-01-01

351

Diagnosis and Treatment of Malignant Pleural Mesothelioma.  

PubMed

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

Rodríguez Panadero, Francisco

2014-07-21

352

Malignant spiradenoma/cylindroma of the vulva.  

PubMed

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

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

2012-11-01

353

Malignant rhabdoid tumor of the parapharyngeal space.  

PubMed

Malignant rhabdoid tumor has been a somewhat controversial entity since it was first described in 1978 as a possible sarcomatous variant of Wilms tumor. Eventually, however, it was found to be a distinct neoplastic tumor with histologic characteristics similar to those of rhabdomyosarcoma. Malignant rhabdoid tumors affect children. Clinically, they occur primarily in the kidney, and they behave aggressively. Associated mortality is significant, even with combined-modality treatment regimens. We describe the case of a large extrarenal malignant rhabdoid tumor of the parapharyngeal space with extension to the infratemporal fossa and skull base in a previously healthy 2-year-old girl who had presented with a cervical mass and ipsilateral Horner syndrome. The patient underwent complete surgical extirpation of the lesion and received adjunctive cisplatin chemotherapy and radiation therapy, and she remained disease-free at 9 months of follow-up. Given the age group of the patients that these neoplasms most commonly affect and given the neoplasms' resemblance to rhabdomyosarcoma and other small round-cell tumors of the head and neck, discussion of the associated clinical pathology, imaging characteristics, histopathologic features, and mode of management are of particular importance, especially so in view of the uncommon location of the tumor in this specific case. Such a discussion may help lead to minimization of misdiagnosis and maximization of therapeutic benefit. PMID:19291622

Sparano, Anthony; Kreiger, Portia; Kazahaya, Ken

2009-03-01

354

Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmus  

PubMed Central

Purpose To identify the gene mutations causing X-linked infantile nystagmus in two Chinese families (NYS003 and NYS008), of which the NYS003 family was assigned to the FERM domain–containing 7 (FRMD7) gene linked region in our previous study, and no mutations were found by direct sequencing. Methods Two microsatellites, DXS1047 and DXS1001, were amplified using a PCR reaction for the linkage study in the NYS008 family. FRMD7 was sequenced and mutations were analyzed. Multiplex ligation-dependent probe amplification (MLPA) was used to detect FRMD7 mutations in the NYS003 family. Results The NYS008 family yielded a maximum logarithm of odds (LOD) score of 1.91 at ?=0 with DXS1001. FRMD7 sequencing showed a nucleotide change of c. 623A>G in exon7 of the patients’ FRMD7 gene, which was predicted to result in an H208R amino acid change. This novel mutation was absent in 100 normal Han Chinese controls. No FRMD7 gene mutations were detected by MLPA in the NYS003 family. Conclusions We identified a novel mutation, c. 623A>G (p. H208R), in a Han Chinese family with infantile nystagmus. This mutation expands the mutation spectrum of FRMD7 and contributes to the research on the molecular pathogenesis of FRMD7. PMID:21365021

Li, Ningdong; Wang, Xiaojuan; Wang, Yuchuan; Wang, Liming; Ying, Ming; Han, Ruifang; Liu, Yuyan

2011-01-01

355

Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency  

PubMed Central

Childhood-onset mitochondrial encephalomyopathies are severe, relentlessly progressive conditions. However, reversible infantile respiratory chain deficiency (RIRCD), due to a homoplasmic mt-tRNAGlu mutation, and reversible infantile hepatopathy, due to tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency, stand out by showing spontaneous recovery, and provide the key to treatments of potential broader relevance. Modification of mt-tRNAGlu is a possible functional link between these two conditions, since TRMU is responsible for 2-thiouridylation of mt-tRNAGlu, mt-tRNALys and mt-tRNAGln. Here we show that down-regulation of TRMU in RIRCD impairs 2-thiouridylation and exacerbates the effect of the mt-tRNAGlu mutation by triggering a mitochondrial translation defect in vitro. Skeletal muscle of RIRCD patients in the symptomatic phase showed significantly reduced 2-thiouridylation. Supplementation with l-cysteine, which is required for optimal TRMU function, rescued respiratory chain enzyme activities in human cell lines of patients with RIRCD as well as deficient TRMU. Our results show that l-cysteine supplementation is a potential treatment for RIRCD and for TRMU deficiency, and is likely to have broader application for the growing group of intra-mitochondrial translation disorders. PMID:23814040

Boczonadi, Veronika; Smith, Paul M.; Pyle, Angela; Gomez-Duran, Aurora; Schara, Ulrike; Tulinius, Mar; Chinnery, Patrick F.; Horvath, Rita

2013-01-01

356

Autologous Cord Blood Therapy for Infantile Cerebral Palsy: From Bench to Bedside  

PubMed Central

About 17 million people worldwide live with cerebral palsy, the most common disability in childhood, with hypoxic-ischemic encephalopathy, preterm birth, and low birth weight being the most important risk factors. This review will focus on recent developments in cell therapy for infantile cerebral palsy by transplantation of autologous umbilical cord blood. There are only 4 publications available at present; however, the observations made along with experimental data in vivo and in vitro may be of utmost importance clinically, so that a review at an early developmental stage of this new therapeutic concept seems justified. Particularly, since the first published double-blind randomized placebo-controlled trial in a paradigm using allogeneic cord blood and erythropoietin to treat cerebral palsy under immunosuppression showed beneficial therapeutic effects in infantile cerebral palsy, long-held doubts about the efficacy of this new cell therapy are dispelled and a revision of therapeutic views upon an ailment, for which there is no cure at present, is warranted. Hence, this review will summarize the available information on autologous cord blood therapy for cerebral palsy and that on the relevant experimental work as far as potential mechanisms and modes of action are concerned. PMID:24695413

Jensen, A.

2014-01-01

357

Autologous cord blood therapy for infantile cerebral palsy: from bench to bedside.  

PubMed

About 17 million people worldwide live with cerebral palsy, the most common disability in childhood, with hypoxic-ischemic encephalopathy, preterm birth, and low birth weight being the most important risk factors. This review will focus on recent developments in cell therapy for infantile cerebral palsy by transplantation of autologous umbilical cord blood. There are only 4 publications available at present; however, the observations made along with experimental data in vivo and in vitro may be of utmost importance clinically, so that a review at an early developmental stage of this new therapeutic concept seems justified. Particularly, since the first published double-blind randomized placebo-controlled trial in a paradigm using allogeneic cord blood and erythropoietin to treat cerebral palsy under immunosuppression showed beneficial therapeutic effects in infantile cerebral palsy, long-held doubts about the efficacy of this new cell therapy are dispelled and a revision of therapeutic views upon an ailment, for which there is no cure at present, is warranted. Hence, this review will summarize the available information on autologous cord blood therapy for cerebral palsy and that on the relevant experimental work as far as potential mechanisms and modes of action are concerned. PMID:24695413

Jensen, A

2014-01-01

358

Early-infantile galactosialidosis: Clinical, biochemical, and molecular observations in a new patient  

SciTech Connect

Few patients with the early-infantile form of galactosialidosis have been described to date. Presented here is the first Italian case. Fetal hydrops was detected by ultrasound at week 24 of gestation. At birth, the infant presented with hypotonial, massive edema, a flattened coarse facies. telangiectasias, and hepatosplenomegaly, but no dysostosis multiplex. The patient died 72 days postpartum. Excessive sialyloligosaccharides in urine, as well as vacuolation of lymphocytes and eosinophilic granulocytes in peripheral blood, were indicative of a lysosomal storage disease. In the patient`s fibroblasts, both {alpha}-neuraminidase and {beta}-galactosidase activities were severely reduced, and cathepsin A activity was <1% of control levels, confirming the biochemical diagnosis of galactosialidosis. However, in contrast to previously reported early-infantile cases, a normal amount of protective protein/cathepsin A mRNA was detected on Northern blots. This mutant transcript was translated into a precursor protein that was not processed into the mature enzyme and lacked both protective and catalytic activities. 28 refs., 4 figs., 1 tab.

Zammarchi, E.; Donati, M.A.; Morrone, A. [Univ. of Florence (Italy)] [and others] [Univ. of Florence (Italy); and others

1996-08-23

359

A novel mutation in COQ2 leading to fatal infantile multisystem disease.  

PubMed

Coenzyme Q10 (ubiquinone or CoQ10) serves as a redox carrier in the mitochondrial oxidative phosphorylation system. The reduced form of this lipid-soluble antioxidant (ubiquinol) is involved in other metabolic processes as well, such as preventing reactive oxygen species (ROS) induced damage from the mitochondrial membrane. Primary coenzyme Q10 deficiency is a rare, autosomal recessive disorder, often presenting with neurological and/or muscle involvement. Until now, five patients from four families have been described with primary coenzyme Q10 deficiency due to mutations in COQ2 encoding para-hydroxybenzoate polyprenyl transferase. Interestingly, four of these patients showed a distinctive renal involvement (focal segmental glomerular sclerosis, crescentic glomerulonephritis, nephrotic syndrome), which is only very rarely seen in correlation with mitochondrial disorders. The fifth patient deceases due to infantile multi organ failure, also with renal involvement. Here we report a novel homozygous mutation in COQ2 (c.905C>T, p.Ala302Val) in a dizygotic twin from consanguineous Turkish parents. The children were born prematurely and died at the age of five and six months, respectively, after an undulating disease course involving apneas, seizures, feeding problems and generalized edema, alternating with relative stable periods without the need of artificial ventilation. There was no evidence for renal involvement. We would like to raise awareness for this potentially treatable disorder which could be under diagnosed in patients with fatal neonatal or infantile multi-organ disease. PMID:23343605

Jakobs, Bernadette S; van den Heuvel, Lambert P; Smeets, Roel J P; de Vries, Maaike C; Hien, Steffen; Schaible, Thomas; Smeitink, Jan A M; Wevers, Ron A; Wortmann, Saskia B; Rodenburg, Richard J T

2013-03-15

360

Percutaneous balloon pericardiotomy for patients with malignant pericardial effusion including three malignant pleural mesotheliomas.  

PubMed

Ten patients were enrolled in this study to evaluate the therapeutic value of percutaneous balloon pericardiotomy in patients with symptomatic pericardial effusion secondary to malignant diseases. Four patients had breast cancer; 2 had lung cancer; 1 had non-Hodgkin's lymphoma; and 3 had malignant pleural mesothelioma, which is commonly seen in Central Anatolian region of Turkey. All patients underwent percutaneous balloon pericardiotomy with monofoil balloons (Mansfield, NuMed). No complication was seen during these procedures. In 3 patients, the balloon could not be expanded completely and was entered from a more lateral position by a second puncture. There was no recurrence of pericardial effusion in 6 of 7 patients without mesothelioma. After percutaneous balloon pericardiotomy, surgical subxiphoid windowing was performed due to drainage greater than 100 mL/day in a patient with lung cancer and in 1 patient with mesothelioma. In the other 2 patients with mesothelioma, recurrence of pericardial effusion was seen and then subxiphoid surgical windowing was performed due to development of cardiac tamponade in 1 of them. All the patients died 68.6 +/- 36 days later due to the primary malignancies. The survival time of patients with mesothelioma was shorter than that of the others (p < 0.05). These results suggest that percutaneous balloon pericardiotomy may be used in the treatment of patients with malignant pericardial effusion as an alternative to surgical pericardial window creation. But in patients with malignant pleural mesothelioma, the success rate of this procedure was lower than that of the others. PMID:11386383

Ovünç, K; Aytemir, K; Ozer, N; Atalar, E; Aksöyek, S; Nazli, N; Gürsel, G; Kes, S

2001-05-01

361

Infantile Cellular Schwannoma Developing on the Skin with Atypical Clinical Features  

PubMed Central

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

Fujimura, Taku; Tagami, Hachiro; Aiba, Setsuya

2014-01-01

362

Laparoscopic Liver Resection for Malignant Liver Tumors  

PubMed Central

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

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

2002-01-01

363

Lactobacillus reuteri (American Type Culture Collection Strain 55730) Versus Simethicone in the Treatment of Infantile Colic: A Prospective Randomized Study  

Microsoft Academic Search

OBJECTIVE. The goal was to test the hypothesis that oral administration of Lactobacillus reuteri in a prospective randomized study would improve symptoms of infantile colic. METHODS. Ninety breastfed colicky infants were assigned randomly to receive either the probiotic L reuteri (108 live bacteria per day) or simethicone (60 mg\\/day) each day for 28 days. The mothers avoided cow's milk in

Francesco Savino; Emanuela Pelle; Elisabetta Palumeri; Roberto Oggero; Roberto Miniero

364

Mutations in the Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis  

Microsoft Academic Search

Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are autosomal recessive conditions characterized by multiple subcutaneous skin nodules, gingival hypertrophy, joint contractures, and hyaline depo- sition. We previously mapped the gene for JHF to chromosome 4q21. We now report the identification of 15 different mutations in the gene encoding capillary morphogenesis protein 2 (CMG2) in 17 families with JHF

Sandra Hanks; Sarah Adams; Jenny Douglas; Laura Arbour; David J. Atherton; Sevim Balci; Harald Bode; Mary E. Campbell; Murray Feingold; Gökhan Keser; Wim Kleijer; Grazia Mancini; John A. McGrath; Francesco Muntoni; Arti Nanda; M. Dawn Teare; Matthew Warman; F. Michael Pope; Andrea Superti-Furga; P. Andrew Futreal; Nazneen Rahman

2003-01-01

365

A segmental radiological study of the spine and rib – cage in children with progressive Infantile Idiopathic Scoliosis  

Microsoft Academic Search

BACKGROUND: The role of rib cage in the development of progressive infantile idiopathic scoliosis (IIS) has not been studied previously. No report was found for rib growth in children with IIS. These findings caused us to undertake a segmental radiological study of the spine and rib-cage in children with progressive IIS. The aim of the present study is to present

Theodoros B Grivas; Geoffrey R Burwell; Elias S Vasiliadis; John K Webb

2006-01-01

366

Fractures in Individuals with and without a History of Infantile Autism. A Danish Register Study Based on Hospital Discharge Diagnoses  

ERIC Educational Resources Information Center

We compared the prevalence and types of fractures in a clinical sample of 118 individuals diagnosed as children with infantile autism (IA) with 336 matched controls from the general population. All participants were screened through the nationwide Danish National Hospital Register. The average observation time was 30.3 years (range 27.3-30.4…

Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

2012-01-01

367

CNS-Directed AAV2-Mediated Gene Therapy Ameliorates Functional Deficits in a Murine Model of Infantile Neuronal Ceroid Lipofuscinosis  

Microsoft Academic Search

The neuronal ceroid lipofuscinoses (Batten disease) are a group of inherited neurodegenerative diseases characterized by the progressive intralysosomal accumulation of autofluorescent material in many cells, visual defects, seizures, cognitive deficits, and premature death. Infantile neuronal ceroid lipofuscinosis (INCL) has the earliest onset (?1.5 years of age) and is caused by a deficiency in the lysosomal enzyme palmitoyl protein thioesterase-1 (PPT1).

Megan A. Griffey; David Wozniak; Michael Wong; Ellen Bible; Kendra Johnson; Steven M. Rothman; Annie E. Wentz; Jonathan D. Cooper; Mark S. Sands

2006-01-01

368

CNS-Directed AAV2-Mediated Gene Therapy Ameliorates Functional Deficits in a Murine Model of Infantile Neuronal Ceroid Lipofuscinosis  

Microsoft Academic Search

The neuronal ceroid lipofuscinoses (Batten disease) are a group of inherited neurodegenerative diseases characterized by the progressive intralysosomal accumulation of autofluorescent material in many cells, visual defects, seizures, cognitive deficits, and premature death. Infantile neuronal ceroid lipofuscinosis (INCL) has the earliest onset (61.5 years of age) and is caused by a deficiency in the lysosomal enzyme palmitoyl protein thioesterase-1 (PPT1).

Megan A. Griffey; David Wozniak; Michael Wong; Ellen Bible; Kendra Johnson; Steven M. Rothman; Annie E. Wentz; Jonathan D. Cooper; S. Sands

369

Metachromatic Leukodystrophy: A Case of Triplets With the Late Infantile Variant and a Systematic Review of the Literature  

Microsoft Academic Search

Metachromatic leukodystrophy is a rare disorder with great clinical variability. We report the first case of triplets with the late infantile form of the disease and their systematic progression of symptoms. We reviewed the literature and identified all human studies that reported new cases since 1921. We analyzed survival by decade to assess the impact of historical changes in the

Asif Mahmood; Jay Berry; David A. Wenger; Maria Escolar; Magdi Sobeih; Gerald Raymond; Florian S. Eichler

2010-01-01

370

Metachromatic Leukodystrophy: a Case of Triplets with the Late Infantile Variant and a Systematic Review of the Literature  

PubMed Central

Metachromatic Leukodystrophy is a rare disorder with great clinical variability. We report the first case of triplets with the late infantile form of the disease and their systematic progression of symptoms. We reviewed the literature and identified all human studies that reported new cases since 1921. We analyzed survival by decade to assess the impact of historical changes in management of care. Mean age at death and 5-year survival from onset of symptoms for late infantile, juvenile and adult phenotype were 4.2 years and 24.9%, 17.4 years and 70.3%, and 43.1 years and 88.6% respectively. 5-year survival of cases reported after 1990 was significantly better than cases reported before 1970 in all subtypes of metachromatic leukodystrophy (late infantile: 52% vs. 14%, juvenile: 100% vs. 46%, adult: 95% vs. 67%). Survival in the late infantile subtype was worse than in other subtypes. Survival significantly improved over time in all subtypes. PMID:20038527

Mahmood, Asif; Berry, Jay; Wenger, David A.; Escolar, Maria; Sobeih, Magdi; Raymond, Gerald; Eichler, Florian S.

2010-01-01

371

Short-latency somatosensory evoked potentials in infantile autism: evidence of hyperactivity in the right primary somatosensory area.  

PubMed

Children with infantile autism sometimes show hyperesthesia or hypoesthesia to touch, pain, and/or temperature. To clarify the pathophysiology, we examined short-latency somatosensory evoked potentials (S-SEPs), elicited by median nerve stimulation, in 24 children with infantile autism (17 males, seven females; age range 2y 2mo-9y; mean age 4y 2mo [SD 1y 7mo]). We also evaluated relationships between S-SEP findings and clinical manifestations. Of the 24 children, 10 showed abnormal S-SEPs as follows: prolonged peak latency of N20 (n=2), extended interpeak latency of P13/14-N20 (n=7), appearance of a giant SEP (n=1), and a more than twofold right hemispheric peak-to-peak amplitude predominance of N20-P25 (n=5). In addition, a peak-to-peak amplitude of N20-P25 elicited by left median nerve stimuli was significantly higher than that obtained with right median nerve stimuli, which indicated right hemispheric hyperactivity relative to the left (p=0.008). Infantile autism is frequently associated with somatosensory abnormalities and right hemispheric hyperactivity relative to the left, especially in the primary somatosensory area. This is believed to contribute to the pathophysiology of infantile autism, especially the idiopathic form. PMID:17209970

Miyazaki, Masahito; Fujii, Emiko; Saijo, Takahiko; Mori, Kenji; Hashimoto, Toshiaki; Kagami, Shoji; Kuroda, Yasuhiro

2007-01-01

372

EFFECTS OF PRENATAL TESTOSTERONE PROPIONATE AND VINCLOZOLIN ON PERINATAL AND INFANTILE DEVELOPMENT OF MALE AND FEMALE RATS  

EPA Science Inventory

Effects of Prenatal Testosterone Propionate and Vinclozolin on Perinatal and Infantile Development of Male and Female Rats Cynthia Wolf1,2, Jonathan Furr1, Gerald A. LeBlanc2, and L. Earl Gray, Jr.1 1USEPA, NHEERL, RTD, EB, RTP, NC 27711, 2Dept. of Environmental and Molecu...

373

Malignant mesothelioma of the tunica vaginalis testis: a malignancy associated with recurrent epididymitis?  

PubMed

A 53-year-old Taiwanese male had several episodes of left epididymitis with hydrocele refractory to antibiotic treatment. Partial epididymectomy plus preventive vasectomy were planned, and, incidentally, an ill-defined nodule was found lying on the tunica vaginalis near the epididymal head. The pathological diagnosis was malignant mesothelioma of the tunica vaginalis testis. Radical orchiectomy with wide excision of the hemi-scrotal wall was performed. So far, there is no evidence of recurrence after more than 3 years of follow-up. Malignant tumor should be considered in the case of recurrent epididymitis refractory to empirically effective antibiotic treatment. Although the nature of this tumor is highly fatal, the malignancy can possibly be cured by early and aggressive surgical treatment. PMID:23140511

Yen, Ching-Heng; Lee, Chun-Te; Su, Chung-Jen; Lo, Hua-Cheng

2012-01-01

374

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

PubMed Central

Background Foundry work is associated with serious occupational hazards. Although several studies have investigated the health risks associated with foundry work, the results of these studies have been inconsistent with the exception of an increased lung cancer risk. The current study evaluated the mortality of Korean foundry workers due to malignant and non-malignant diseases. Methods This study is part of an ongoing investigation of Korean foundry workers. To date, we have observed more than 150,000 person-years in male foundry production workers. In the current study, we stratified mortality ratios by the following job categories: melting-pouring, molding-coremaking, fettling, and uncategorized production work. We calculated standard mortality ratios (SMR) of foundry workers compare to general Korean men and relative risk (RR) of mortality of foundry production workers reference to non-production worker, respectively. Results Korean foundry production workers had a significantly higher risk of mortality due to malignant disease, including stomach (RR: 3.96; 95% CI: 1.41–11.06) and lung cancer (RR: 2.08; 95% CI: 1.01–4.30), compared with non-production workers. High mortality ratios were also observed for non-malignant diseases, including diseases of the circulatory (RR: 1.92; 95% CI: 1.18–3.14), respiratory (RR: 1.71; 95% CI: 1.52–21.42 for uncategorized production worker), and digestive (RR: 2.27; 95% CI: 1.22–4.24) systems, as well as for injuries (RR: 2.36; 95% CI: 1.52–3.66) including suicide (RR: 3.64; 95% CI: 1.32–10.01). Conclusion This study suggests that foundry production work significantly increases the risk of mortality due to some kinds of malignant and non-malignant diseases compared with non-production work. PMID:24505454

Yoon, Jin-Ha; Ahn, Yeon-Soon

2014-01-01

375

The IASLC/ITMIG thymic malignancies staging project: development of a stage classification for thymic malignancies.  

PubMed

The lack of an official-stage classification system for thymic malignancies is an issue that hampers progress in this rare disease. A collaborative effort by the International Association for the Study of Lung Cancer and the International Thymic Malignancies Interest Group is underway to develop proposals for such a system. A database of more than 10,000 cases worldwide has been assembled to provide a solid basis for analysis. This report outlines the structure of the effort and the process that has been designed. PMID:24389429

Detterbeck, Frank C; Asamura, Hisao; Crowley, John; Falkson, Conrad; Giaccone, Giuseppe; Giroux, Dori; Huang, James; Kim, Jhingook; Kondo, Kazuya; Lucchi, Marco; Marino, Mirella; Marom, Edith M; Nicholson, Andrew; Okumura, Meinoshin; Ruffini, Enrico; van Schil, Paul; Stratton, Kelly

2013-12-01

376

Secondary pulmonary alveolar proteinosis in hematologic malignancies.  

PubMed

Pulmonary alveolar proteinosis (PAP), characterized by deposition of intra-alveolar PAS positive protein and lipid rich material, is a rare cause of progressive respiratory failure first described by Rosen et al. in 1958. The intra-alveolar lipoproteinaceous material was subsequently proven to have been derived from pulmonary surfactant in 1980 by Singh et al. Levinson et al. also reported in 1958 the case of 19-year-old female with panmyelosis afflicted with a diffuse pulmonary disease characterized by filling of the alveoli with amorphous material described as "intra-alveolar coagulum". This is probably the first reported case of PAP in relation to hematologic malignancy. Much progress has been made on PAP first described by Rosen which is currently classified as idiopathic or primary or autoimmune PAP. Idiopathic PAP occurs as a result of auto-antibodies directed against granulocyte-macrophage colony stimulating factor (GM-CSF) impeding the surfactant clearing function of alveolar macrophages leading to progressive respiratory failure. Whole lung lavage and GM-CSF therapy has improved outcomes in patients with idiopathic PAP. Despite major advancement in the management of hematologic malignancy and its complications, little is known about the type of PAP first described by Levinson and now known as secondary PAP; a term also used when PAP occurs due to other causes such as occupational dusts. In this article we review and analyze the limited literature available in secondary PAP due to hematologic malignancies and present a case of PAP associated with chronic lymphocytic leukemia successfully treated with bendamustine and rituximab. PMID:25300566

Chaulagain, Chakra P; Pilichowska, Monika; Brinckerhoff, Laurence; Tabba, Maher; Erban, John K

2014-12-01

377

Multiple Primary Malignancies in Black Patients  

PubMed Central

Charts of 42 black patients with multiple malignant neoplasms were among 1,953 cancer patients selected for review during the period of 1959 through 1979. The incidence was 2.15 percent. Most patients were female and the breast was the most frequent initial primary carcinoma. With this relatively small number of cases, there was no consistent cluster of initial and second primaries about which to make inferences. In the absence of a regional registry of primary tumor incidence, no generalities could be obtained concerning a matched non-black population on the incidence of multiple primaries. However, comparison of this group could be made with data previously recorded. PMID:7310922

Gaskin, Hubert S.; Hardy, Robert E.; Fletcher, Ronald L.

1981-01-01

378

Molecular targeting in childhood malignancies using nanoparticles  

NASA Astrophysics Data System (ADS)

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

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

2012-06-01

379

Homoharringtonine and omacetaxine for myeloid hematological malignancies  

PubMed Central

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

2014-01-01

380

Malignant renal angiomyolipoma without tuberous sclerosis.  

PubMed

A 68-year-old woman presented with abdominal pain, fatigue, anorexia and night sweats. Imaging studies identified a vascular mass extending from the upper pole of the right kidney with anterior displacement to the abdominal midline, consistent with renal cell carcinoma. A radical nephrectomy and right pelvic lymph node dissection was performed. Pathology determined a grade 4 malignant epithelioid angiomyolipoma that invaded hilar and perinephric adipose tissue. Gross tumour was also present within the renal vein, sinus, pelvis, capsule and perinephric fat. The tumour was HMB-45 positive, supporting the diagnosis of a typical angiomyolipoma in association with the high-grade epithelioid tumour. PMID:24789163

Cusano, Antonio; Abarzua-Cabezas, Fernando; Meraney, Anoop

2014-01-01

381

Risk Factors in Neuroleptic Malignant Syndrome  

PubMed Central

Neuroleptic malignant syndrome (NMS) is an uncommon but potentially serious idiosyncratic response to neuroleptic antipsychotics. It usually affects young males, but the risk has been seen to increase with certain factors including the administration practices of antipsychotic neuroleptics in these individuals. Even though no predictors for NMS are yet known, this article highlights the findings on certain risk factors as seen from a series of fifteen patients who developed NMS. Cautious use of neuroleptics in those at risk, early recognition and institution of immediate management is important. PMID:21206810

Gupta, Vinay; Magon, Rakesh; Mishra, B.P.; Sidhu, G.B.S.; Mahajan, Ranjiv

2003-01-01

382

A Case of Malignancy-Associated Cryoglobulinemia  

PubMed Central

We present a case of type 1 cryoglobulinemia with an underlying hematological malignancy. Unusually, the entire unifying diagnosis was made on the basis of the renal biopsy. Initially, serum cryoglobulin was not identified; repeat samples were positive. It is important to note that there is a significant false-negative rate with laboratory testing for cryoglobulin, due, at least in part, to the specific conditions required for collection and processing. With that in mind, in all cases with strong clinical or histological evidence of cryoglobulin but negative testing, carefully repeated samples should be sent. PMID:24167515

Kennedy, C.; Doyle, R.; Mayer, N.; Clarkson, M.

2013-01-01

383

[Cytoplasm fragmentation of malignant lymphoma cells].  

PubMed

The development of auricles as well as the crumbling away of plasma particles to be observed on the plasma margins of malignant myeloblasts, lymphoid cells, and histiocytes are well-known appearances. Sometimes a pseudothrombocytosis will be caused by these fragments, with a size roughly corresponding to that of thrombocytes. The findings obtained in the course of the investigations seem to indicate that the justified suspicion for lymphoplasmacytoid immunocytoma can already be made by simultaneously determining the fragmentation phenomenon and the "snowflake symptom", investigations will be required for elucidating the cause and significance of fragmentation. PMID:6198248

Berkessy, S

1983-01-01

384

Tyrosine kinase gene rearrangements in epithelial malignancies  

PubMed Central

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

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

2014-01-01

385

Water content and structure in malignant and benign skin tumours  

NASA Astrophysics Data System (ADS)

Analysis of the low frequency region of Raman spectra enables determination of water structure. It has been previously demonstrated by various techniques that water content and possibly also the water structure is altered in some malignant tumours. To further elucidate possible change in water structure in tumours we performed NIR FT Raman spectroscopy on biopsies from selected benign and malignant skin tumours (benign: seborrheic keratosis, pigmented nevi; malignant: malignant melanoma, basal cell carcinoma). We did not observe any differences in water content between malignant and benign skin tumours with an exception of seborrheic keratosis, in which the water content was decreased. Increase in the tetrahedral (free) water was found in malignant skin tumours and sun-damaged skin relative to normal young skin and benign skin tumours. This finding may add to the understanding of molecular alterations in cancer.

Gniadecka, M.; Nielsen, O. F.; Wulf, H. C.

2003-12-01

386

Breakthrough pain in malignant and non-malignant diseases: a review of prevalence, characteristics and mechanisms  

Microsoft Academic Search

Breakthrough pain or transient worsening of pain in patients with an ongoing steady pain is a well known feature in cancer pain patients, but it is also seen in non-malignant pain conditions with involvement of nerves, muscles, bones or viscera. Continuous and intermittent pain seems to be a general feature of these different pain conditions, and this raises the possibility

Kristina B. Svendsen; Steen Andersen; Sigurdur Arnason; Staffan Arnér; Harald Breivik; Tarja Heiskanen; Eija Kalso; Ulf E. Kongsgaard; Per Sjogren; Peter Strang; Flemming W. Bach; Troels S. Jensen

2005-01-01

387

Infantile Hemangioma—Mechanism(s) of Drug Action on a Vascular Tumor  

PubMed Central

Infantile hemangioma (IH), a benign vascular tumor, is the most common tumor of infancy, with an incidence of 5%–10% at the end of the first year. The tumor displays a distinctive life cycle consisting of a proliferating phase, occurring in the first months of life, followed by an involuting phase. Thus, IH represents a unique model of postnatal vasculogenesis, angiogenesis, and vessel regression. Traditionally, corticosteroids were the drug of choice when treatment of IH was indicated. In recent years, beta-blockers, most specifically propranolol, have serendipitously been shown to be an effective pharmacological treatment. This article will focus on the mechanism of action of these two drugs, the old and the new treatments, in slowing the growth and accelerating involution of IH. PMID:22229118

Greenberger, Shoshana; Bischoff, Joyce

2011-01-01

388

Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p.  

PubMed

Bartter syndrome (BS) is a family of disorders manifested by hypokalemic hypochloremic metabolic alkalosis with normotensive hyperreninemic hyperaldosteronism. We evaluated a unique, inbred Bedouin kindred in which sensorineural deafness (SND) cosegregates with an infantile variant of the BS phenotype. Using a DNA-pooling strategy, we screened the human genome and successfully demonstrated linkage of this unique syndrome to chromosome 1p31. The genes for two kidney-specific chloride channels and a sodium/hydrogen antiporter, located near this region, were excluded as candidate genes. Although the search for the disease-causing gene in this family continues, this linkage further demonstrates the genetic heterogeneity of BS. In addition, the cosegregation of these phenotypes allows us to postulate that a single genetic alteration may be responsible for the SND and the BS phenotype. The identification and characterization of this gene would lead to a better understanding of the normal physiology of the kidney and the inner ear. PMID:9463315

Brennan, T M; Landau, D; Shalev, H; Lamb, F; Schutte, B C; Walder, R Y; Mark, A L; Carmi, R; Sheffield, V C

1998-02-01

389

Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p.  

PubMed Central

Bartter syndrome (BS) is a family of disorders manifested by hypokalemic hypochloremic metabolic alkalosis with normotensive hyperreninemic hyperaldosteronism. We evaluated a unique, inbred Bedouin kindred in which sensorineural deafness (SND) cosegregates with an infantile variant of the BS phenotype. Using a DNA-pooling strategy, we screened the human genome and successfully demonstrated linkage of this unique syndrome to chromosome 1p31. The genes for two kidney-specific chloride channels and a sodium/hydrogen antiporter, located near this region, were excluded as candidate genes. Although the search for the disease-causing gene in this family continues, this linkage further demonstrates the genetic heterogeneity of BS. In addition, the cosegregation of these phenotypes allows us to postulate that a single genetic alteration may be responsible for the SND and the BS phenotype. The identification and characterization of this gene would lead to a better understanding of the normal physiology of the kidney and the inner ear. PMID:9463315

Brennan, T M; Landau, D; Shalev, H; Lamb, F; Schutte, B C; Walder, R Y; Mark, A L; Carmi, R; Sheffield, V C

1998-01-01

390

The epidemiology of infantile hypertrophic pyloric stenosis in Sweden 1987-96  

PubMed Central

AIMS—To find out whether the incidence of infantile hypertrophic pyloric stenosis (IHPS) has changed over the past decade, and if so, to investigate possible contributory factors.?METHODS—All infants undergoing pyloromyotomy for IHPS in Sweden between 1987 and 1996 were studied. Using the national patient registers the yearly incidence was determined and evaluated in relation to sex, latitude, urbanisation, and type of surroundings by use of a Poisson model.?RESULTS—There was a substantial decline from 2.7/1000 to 0.85/1000 over the time period. The incidence in the south was almost three times greater than in the north.?CONCLUSION—The declining incidence and geographical difference suggest that environmental factors are of importance in this disorder.?? PMID:11668097

Hedback, G; Abrahamsson, K; Husberg, B; Granholm, T; Oden, A

2001-01-01

391

Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination.  

PubMed

A girl with cardio-facio-cutaneous (CFC) syndrome due to a BRAF gene mutation (c.1454T?C, p.L485S) experienced repetitive epileptic spasms at the corrected age of 4 months. Electroencephalograms revealed hypsarrhythmia, and magnetic resonance imaging identified delayed myelination and a hypoplastic corpus callosum. Various antiepileptic treatments, including adrenocorticotropic hormone therapy, were ineffective, although transient seizure control was achieved by a ketogenic diet and clorazepate dipotassium. However, seizures with epileptic foci at the bilateral posterior temporal areas re-aggravated and remained intractable; severe psychomotor delay persisted. This case indicated that infantile spasms in CFC syndrome can be difficult to control and may be accompanied by severe psychomotor retardation and abnormal myelination. PMID:20395089

Aizaki, Koichi; Sugai, Kenji; Saito, Yoshiaki; Nakagawa, Eiji; Sasaki, Masayuki; Aoki, Yoko; Matsubara, Yoichi

2011-02-01

392

Simple and Easy Surgical Technique for Infantile Hemangiomas: Intralesional Excision and Primary Closure  

PubMed Central

Objective: Infantile hemangioma (IH) is a benign vascular tumor that gradually shrinks over several years. Involuting or involuted IHs usually retain their shape, however, and result in redundant skin or conspicuous scarring due to ulceration in the proliferating phase. We present a case series of 12 patients who underwent intralesional excision and primary closure for treatment of involuting or involuted IH. Methods: Twelve patients (5 boys, 7 girls) underwent our treatment method for involuting or involuted IH. A blinded assessor evaluated clinical result of each patient. Results: Surgical results were excellent in 4 patients, good in 6, and fair in 2. A small dog ear was prominent in 1 patient; nevertheless, all parents were satisfied with the results. Conclusions: Intralesional excision and primary closure for treatment of involuting or involuted IH is an easy and simple procedure that does not result in dog-ear formation or elongated residual scarring. PMID:25610518

Osaki, Takeo; Ishinagi, Hiroyoshi; Ejiri, Hirotaka; Terashi, Hiroto

2015-01-01

393

A practical guide to treatment of infantile hemangiomas of the head and neck  

PubMed Central

Infantile hemangiomas are the most common benign vascular tumors in infancy and childhood. As hemangioma could regress spontaneously, it generally does not require treatment unless proliferation interferes with normal function or gives rise to risk of serious disfigurement and complications unlikely to resolve without treatment. Various methods for treating infant hemangiomas have been documented, including wait and see policy, laser therapy, drug therapy, sclerotherapy, radiotherapy, surgery and so on, but none of these therapies can be used for all hemangiomas. To obtain the best treatment outcomes, the treatment protocol should be individualized and comprehensive as well as sequential. Based on published literature and clinical experiences, we established a treatment guideline in order to provide criteria for the management of head and neck hemangiomas. This protocol will be renewed and updated to include and reflect any cutting-edge medical knowledge, and provide the newest treatment modalities which will benefit our patients. PMID:24260591

Zheng, Jia Wei; Zhang, Ling; Zhou, Qin; Mai, Hua Ming; Wang, Yan An; Fan, Xin Dong; Qin, Zhong Ping; Wang, Xv Kai; Zhao, Yi Fang

2013-01-01

394

Desmoplastic infantile ganglioglioma: Report of an unusual case with a cranial defect  

PubMed Central

Desmoplastic infantile ganglioglioma (DIG) is a rare tumor that typically occurs in infants under the age of 24 months. These tumors commonly have a good prognosis after surgical resection despite their aggressive radiological appearances. Clinical signs are due to the large size of the tumor and include increased head circumference, bulging fontanel, sunset sign and seizures. We report an unusual DIG case who presented with parietal bulging associated with a bony defect. The patient was thought to have a leptomeningeal cystic formation, but on his cranial magnetic resonance imaging (MRI), we observed a centrally and homogeneously gadolinium-enhanced lesion fixed to the dura by its solid component. A surgical gross total resection was performed, and no residual tumor was observed on follow-up. PMID:24891905

Basaran, Recep; Cakir, Fatma Betul; Isik, Nejat; Sav, Aydin; Elmaci, Ilhan

2014-01-01

395

Effective treatment for malignant mediastinal teratoma.  

PubMed

Primary malignant mediastinal teratoma is a rare tumour previously regarded as inevitably fatal. In a series of eight male patients with a mean age of 24 years five remain alive and well. All patients showed raised serum concentrations of human chorionic gonadotrophin or alpha fetoprotein. The patients were treated with intermittent combination chemotherapy that included cisplatin. Six patients responded to chemotherapy with a fall in human chorionic gonadotrophin or alpha fetoprotein to near normal levels and they then had radical excision of the remaining tumour. Living malignant tumour was found in four of the specimens and these patients received postoperative chemotherapy. One patient died after eight months and the remaining five patients are alive and well 13-136 months after the start of treatment. The two patients who did not undergo surgery died at one month and 15 months. Intermittent combination chemotherapy and carefully timed radical excision of these tumours would appear to have produced better results than have been reported in other series. PMID:6198739

Parker, D; Holford, C P; Begent, R H; Newlands, E S; Rustin, G J; Makey, A R; Bagshawe, K D

1983-12-01

396

A large retroperitoneal malignant solitary fibrous tumor.  

PubMed

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

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

2014-01-01

397

[Peritoneal malignant mesothelioma: review and recent data].  

PubMed

Peritoneal malignant mesothelioma is a rare tumor, less common than its pleural counterpart. It develops from the mesothelial cells overlying peritoneum and preferentially occurs in male, with an average age ranging from 47 to 60.5 years. Asbestos whose impact is less strong than in pleural mesothelioma, SV 40 virus, chronic peritonitis could be implicated as factors favoring the development of peritoneal mesothelioma. Clinical symptoms are not specific, and the imagery remains little or not contributive. The 2004 WHO classification recognizes 3 different types, which differ in terms of presentation and prognosis: diffuse epithelioid mesothelioma (the most common), sarcomatoid mesothelioma and biphasic mesothelioma. Many variants are described within these groups. Immunohistochemistry is mandatory to affirm or disprove peritoneal malignant mesothelioma diagnosis, based on a panel of antibodies divided in positive markers and negative markers. Indeed an accurate diagnosis is necessary to define a therapeutic strategy more and more frequently based on the combination of radical surgery and hyperthermic intra peritoneal chemotherapy. Such an approach significantly improves the prognosis of these aggressive diseases. PMID:24630634

Mery, Éliane; Hommell-Fontaine, Juliette; Capovilla, Mathieu; Chevallier, Anne; Bibeau, Frédéric; Croce, Sabrina; Dartigues, Peggy; Kaci, Rachid; Lang-Averous, Gerlinde; Laverriere, Marie-Hélène; Leroux-Broussier, Agnès; Poizat, Flora; Robin, Nina; Valmary-Degano, Séverine; Verriele-Beurrier, Véronique; Villeneuve, Laurent; Isaac, Sylvie

2014-02-01

398

Effective treatment for malignant mediastinal teratoma.  

PubMed Central

Primary malignant mediastinal teratoma is a rare tumour previously regarded as inevitably fatal. In a series of eight male patients with a mean age of 24 years five remain alive and well. All patients showed raised serum concentrations of human chorionic gonadotrophin or alpha fetoprotein. The patients were treated with intermittent combination chemotherapy that included cisplatin. Six patients responded to chemotherapy with a fall in human chorionic gonadotrophin or alpha fetoprotein to near normal levels and they then had radical excision of the remaining tumour. Living malignant tumour was found in four of the specimens and these patients received postoperative chemotherapy. One patient died after eight months and the remaining five patients are alive and well 13-136 months after the start of treatment. The two patients who did not undergo surgery died at one month and 15 months. Intermittent combination chemotherapy and carefully timed radical excision of these tumours would appear to have produced better results than have been reported in other series. Images PMID:6198739

Parker, D; Holford, C P; Begent, R H; Newlands, E S; Rustin, G J; Makey, A R; Bagshawe, K D

1983-01-01

399

[Coagulation and formation of malignant effusions].  

PubMed

Malignant effusions are a frequent problem for cancer patients. Due to the high resistance of tumor cells within these effusions, no effective treatment has been defined yet. Most patients exhibit additional phenomena related to hyper-coagulability such as elevated levels for d-dimers and prothrombin fragments f1.2; half of them suffer from manifest thrombosis or complications. We followed the hypothesis that the activated coagulation system contributes to the resistance of tumor cells and analyzed the effusions from cancer patients. The majority of isolated tumor cells aberrantly expressed PAR-1 thrombin receptors. In vitro pre-incubation of PAR-1 expressing human leukemia cells with thrombin resulted in a dose-dependent resistance to idarubicin. Within the effusions, we did not only find high concentrations of VEGF and tissue factor, but also all coagulation factors of the tissue factor pathway. Very high levels of prothrombin fragments f1.2 indicate constant thrombin generation. Upon the basis of these findings, we developed a multistep model elucidating the pathophysiological generation of malignant effusions, which might serve as a basis for further examinations. PMID:17938766

Gieseler, F; Stelck, B; Blume, L-F; Denker, M; Dohrmann, P; Mundhenke, C; Bauerschlag, D; Tiemann, M; Kunze, T

2007-09-01

400

Treatment of malignant glioma using hyperthermia  

PubMed Central

Thirty pathologically diagnosed patients with grade III–IV primary or recurrent malignant glioma (tumor diameter 3–7 cm) were randomly divided into two groups. The control group underwent conventional radiotherapy and chemotherapy. In the hyperthermia group, primary cases received hyperthermia treatment, and patients with recurrent tumors were treated with hyperthermia in com-bination with radiotherapy and chemotherapy. Hyperthermia treatment was administered using a 13.56-MHz radio frequency hyperthermia device. Electrodes were inserted into the tumor with the aid of a CT-guided stereotactic apparatus and heat was applied for 1 hour. During 3 months after hyperthermia, patients were evaluated with head CT or MRI every month. Gliomas in the hyper-thermia group exhibited growth retardation or growth termination. Necrosis was evident in 80% of the heated tumor tissue and there was a decrease in tumor diameter. Our findings indicate that ra-dio frequency hyperthermia has a beneficial effect in the treatment of malignant glioma. PMID:25206588

Sun, Jiahang; Guo, Mian; Pang, Hengyuan; Qi, Jingtao; Zhang, Jinwei; Ge, Yunlong

2013-01-01

401

Malignant melanoma derived from cerebriform intradermal naevus.  

PubMed

We report a case of malignant melanoma (MM) derived from cerebriform intradermal naevus (CIN) in a 66-year-old Japanese man. The patient had cutis verticis gyrata (CVG) on the posterior area of the scalp at birth. He noticed a dome-shaped nodule at the centre of the CVG at 66 years of age. Histopathological examination found a nodule of MM arising within an extensive area of intradermal naevus. There was no metastasis to lymph nodes or other organs. To our knowledge, only two cases of CIN in which MM had later developed have been reported. We estimated that the incidence of melanoma from CIN including our case is 4.5% (3 of 67 reported cases), which seems to be comparable to the frequency of malignant alteration of giant pigmented naevi. This suggests that pathological examination is recommended for CVG, and once pathological diagnosis of CIN is confirmed, long clinical follow-ups are necessary for detecting development of MM. PMID:19793094

Hayashi, Y; Tanioka, M; Taki, R; Sawabe, K; Kore-eda, S; Utani, A; Miyachi, Y

2009-12-01

402

Malignant Pleural Effusions: Appropriate Treatment Approaches  

PubMed Central

Malignant pleural effusion (MPE) is a common and important clinical condition. A complication in many types of tumors, its presence indicates the onset of the terminal stages of cancer. Dyspnea is the most common symptom of MPE. The most common underlying tumors are lymphomas and cancers of the lung, breast and ovaries, which account for 75% of cases. The diagnosis of MPE can be established by the presence of malignant cells in the pleural fluid or tissue. Median survival in these patients ranges from 3 to 12 months, with the shortest survival period presenting in lung cancer patients. The aim of MPE therapeutic approaches should be effective treatment and a short hospital stay. There are many different treatment options for patients who suffer from MPE, including serial thoracentesis, tube thoracostomy, pleurodesis, long term pleural catheter, pleuroperitoneal shunt, decortication, chemotherapy and radiotherapy. The choice of therapy is determined based on a patient’s clinical situation as well as the underlying disease. Today, intercostal tube insertion and chemical pleurodesis are the most commonly prescribed treatment modalities.

Aydin, Yener; Turkyilmaz, Atila; Intepe, Yavuz Selim; Eroglu, Atilla

2009-01-01

403

Diagnostic evaluation of pancreatic cystic malignancies.  

PubMed

Cystic neoplasms of the pancreas are increasingly recognized because of expanding use and improved sensitivity of cross-sectional imaging studies. Major advances in the last decade have led to an improved understanding of the various types of cystic lesions and their biologic behavior. Despite significant improvement in imaging technology and the advent of endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) the diagnosis and management of pancreatic cystic lesions remains a significant clinical challenge. Previous "operate in all cases of pancreatic cyst" strategies have been refined and largely replaced using EUS and cyst fluid analysis as the crux for a more practical management approach. The first diagnostic step remains the differentiation between pancreatic pseudocyst and cystic neoplasm. If a pseudocyst has been effectively excluded, the cornerstone issue becomes to determine the malignant potential of the pancreatic cystic neoplasm. In most cases the correct diagnosis and successful management is based not on a single test but on incorporating data from various sources including patient history, radiologic studies, endoscopic evaluation, in particular EUS, and cyst fluid analysis obtained during fine-needle aspirate. This review focuses on describing the various types of cystic neoplasms of the pancreas and their malignant potential, and provide the clinician with a comprehensive diagnostic approach. PMID:20362794

Hutchins, Grant; Draganov, Peter V

2010-04-01

404

New sources of drugs for hematologic malignancies  

PubMed Central

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

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

2011-01-01

405

[Malignant neuroleptic syndrome after haloperidol administration].  

PubMed

The neuroleptic malignant syndrome (NMS) is a rare complication of antipsychotic therapy. We report on a 65-year-old patient who was treated with haloperidol, diazepam and mirtazapin because of a severe depressive episode with psychotic symptoms. He exhibited most of the signs and symptoms characteristic of NMS, e.g.: hyperthermia, rigidity, elevated creatine phosphokinase, leukocytosis, elevated liver enzymes, reduced consciousness and autonomic nervous system disturbances. A secondary pneumonia was diagnosed 2 days after the onset of the NMS, which might have been due to chest wall rigidity. Intensive care treatment consisted of immediate discontinuation of the offending agent, supportive therapy with rehydratation and catecholamines as well as application of dantrolen. After 23 days of intensive therapy all pathological parameters were normalised and the patient was transferred to an internal ward. Three main theories on the pathogenesis of NMS exist: 1. blockade of central receptors, 2. a skeletal muscle target model and 3. sympathoadrenal hyperactivity. The differential diagnosis includes among others malignant hyperthermia and serotonin syndrome. PMID:11417268

Gerbershagen, M U; Ito, W D; Wappler, F; Fiege, M; Schulte am Esch, J

2001-05-01

406

[Anti-angiogenic therapy for malignant glioma].  

PubMed

Glioblastoma(GBM)is the most malignant and frequent primary brain tumor. The current standard of care consists of maximum safe resection and radiotherapy with concomitant and subsequent temozolomide(TMZ)treatment. With this treatment plan, the prognosis of patients with GBM remains dismal, with a 5-year survival rate of<10%; thus development of effective, novel therapies is needed. Bevacizumab(Bev, Avastin®)is a humanized monoclonal antibody against vascular endothelial growth factor(VEGF), one of the major potent angiogenic factors for the growth of human cancers, including GBM. Bev has been shown to effectively shrink enhancing lesions of recurrent GBM and decrease symptom burden and brain edema. These positive results led to its approval for malignant glioma treatment in June 2013 in Japan. Two double-blind, placebo-controlled, randomized phase III studies of Bev in newly diagnosed GBM were conducted to verify its efficacy as a first-line therapy used in combination with TMZ. The results, which were reported at the American Society for Clinical Oncology(ASCO)meeting in June 2013, failed to show an increase in overall survival, despite prolongation in progression-free survival. These results led to many unsolved issues regarding the use of Bev for the treatment of GBM. We discuss these problems in this paper and highlight our institutional experience with Bev monotherapy for recurrent high-grade gliomas. PMID:24743191

Nagane, Motoo

2014-02-01

407

Multispectral fluorescence imaging device for malignancy detection  

NASA Astrophysics Data System (ADS)

In medical diagnosis of superficial lesions at inner or outer surfaces of the human body fluorescence imaging techniques are able to deliver additional information on the metabolic and structural state of the observed tissue. To subtract background fluorescence and to achieve a differential diagnosis a multispectral analysis in several wavelength windows is needed. Additionally, special image algorithms have to be applied which depend on the examined malignancy. For this purpose a multispectral fluorescence imaging device was developed. It can be used both endoscopically and in combination with a standard operational microscope from Carl Zeiss, Germany. In this paper, the device and first clinical results are presented. The device was built to detect superficial lesions like tumors, inflammations, etc. Target chromophores are NADH, Protoporphyrin IX, collagen and other. The measured optical bands are (405 plus or minus 5) nm, (442 plus or minus 5) nm, (458 plus or minus 5) nm, (550 plus or minus 5) nm, (630 plus or minus 5) nm and (690 plus or minus 5) nm. A special UV-source with a liquid light guide is used as the illumination source in two excitation bands of (365 plus or minus 10) nm and (420 plus or minus 20) nm. First clinical investigations of superficial malignancies like squamous cell carcinoma and basalioma are presented.

Bocher, Thomas; Luhmann, Till; Baier, S.; Dierolf, Marc; Naumann, M.; Beuthan, Juergen; Berlien, Hans-Peter; Mueller, Gerhard J.

1997-12-01

408

Gynaecological Malignancies from Palliative Care Perspective  

PubMed Central

Of the approximately 80,000 new cases of all cancers detected every year in India, 10–15% are gynecological malignancies. As per population-based registries under the National Cancer Registry Program, the leading sites of cancer among women are the cervix uteri, breast, and oral cavity. About 50–60% of all cancers among women in India are mainly of the following four organs: cervix uteri, breast, corpus uteri, and ovaries. Over 70% of these women report for diagnostic and treatment services at an advanced stage of disease, resulting in poor survival and high mortality rates. Among all gynecological cancers, ovarian cancer is the deadliest one and, in 2/3rd of the cases, is detected in an advanced stage. But, in India and in other developing countries, due to inadequate screening facilities for the preventable cancer cervix, this kills more women than any other cancer in females. Gynecology Oncologist as a sub-specialist has an immensely important role in curtailing the menace of gynecological malignancies by providing comprehensive preventive, curative, palliative and follow-up services, with the aim of assuring a good quality of life to women as a cornerstone of cancer management. PMID:21811372

Mishra, Kamlesh

2011-01-01

409

Intermittent everolimus administration for malignant insulinoma  

PubMed Central

Summary Insulinoma is a rare form of insulin-secreting pancreatic islet cell neuroendocrine (NE) tumor. The medical treatment of the malignant NE disease of the pancreas deeply changed in the last years, thanks to the introduction of new target molecules, as everolimus. Even if the exact mechanism is not actually known, one of the side effects of everolimus, hyperglycemia, has been demonstrated to be useful to contrast the typical hypoglycemia of the insulinoma. We report the case of a patient with a metastatic malignant insulinoma treated with intermittent everolimus, obtaining an important improvement in the quality of life; this suggests the necessity of preclinical studies to analyze the cellular pathways involved in insulin-independent gluconeogenesis. Learning points Effect of somatostatin analogs is long-lasting in the control of functioning NE tumors.Persistent everolimus control of hypoglycemia despite serum insulin levels and disease progression.Open issue: are disease progression and the increase in serum markers the only valid criteria to reject a treatment? PMID:25298880

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

2014-01-01

410

Infantile esotropia could be oligogenic and allelic with Duane retraction syndrome  

PubMed Central

Purpose To describe phenotyping and linkage analysis results for available members from a consanguineous nuclear family with hereditary congenital strabismus. Methods Both parents and all 12 children underwent clinical examination. Available affected and several unaffected family members had venous blood sampling for DNA extraction and 10K single nucleotide polymorphism (SNP) genotyping (Affymetrix Gene Chip® Human). Multipoint logarithm of the odds (LOD) score calculations were performed assuming an autosomal recessive mode of inheritance with 100% penetrance and disease allele frequency of 0.01%. Results Three children had non-syndromic large-angle infantile esotropia without significant hyperopia. A fourth child had left esotropic Duane retraction syndrome. A fifth child who had esotropia in the setting of prematurity and childhood poliomyelitis was excluded from the analysis. A sixth child had keratoconus and was excluded. Both parents and the remaining 6 children had no significant orthoptic or ophthalmic findings. Using linkage analysis including the 4 esotropic children, disease loci were mapped to regions on chromosomes 3p26.3–26.2 and 6q24.2–25.1 using multipoint linkage analysis with LOD scores of 3.18 and 3.25 respectively. Linkage to these regions persisted when the esotropic Duane retraction syndrome patient was excluded from the linkage analysis (LOD scores of 2.00 and 2.32, respectively). Conclusions Non-syndromic infantile esotropia could be related to susceptibility loci on chromosomal regions 3p26.3–26.2 and 6q24.2–25.1 and may share alleles that underlie Duane retraction syndrome. PMID:21850174

Shinwari, Jameela; Al Sharif, Latifa; Khalil, Dania; Al-Gehedan, Saeed; Al Tassan, Nada A.

2011-01-01

411

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms  

PubMed Central

Background: Rett syndrome is a severe neurodevelopmental disorder, almost exclusively affecting females and characterised by a wide spectrum of clinical manifestations. Both the classic form and preserved speech variant of Rett syndrome are due to mutations in the MECP2 gene. Several other variants of Rett syndrome have been described. In 1985, Hanefeld described a variant with the early appearance of convulsions. In this variant, the normal perinatal period is soon followed by the appearance of seizures, usually infantile spasms. We have observed two patients with signs of Rett syndrome showing acquired microcephaly and stereotypic midline hand movements. The disease started with generalised convulsions and myoclonic fits at 1.5 months in the first patient and with spasms at 10 days in the other, suggesting a diagnosis of the Hanefeld variant. In these patients, MECP2 point mutations and gross rearrangements were excluded by denaturing high performance liquid chromatography and real time quantitative PCR. The ARX and CDKL5 genes have been associated with West syndrome (infantile spasms, hypsarrhythmia, and mental retardation). Methods: Based on the clinical overlap between the Hanefeld variant and West syndrome, we analysed ARX and CDKL5 in the two girls. Results: We found frameshift deletions in CDKL5 in both patients; one in exon 5 (c.163_166delGAAA) and the other in exon 18 (c.2635_2636delCT). CDKL5 was then analysed in 19 classic Rett and 15 preserved speech variant patients, all MECP2 negative, but no mutations were found. Conclusion: Our results show that CDKL5 is responsible for a rare variant of Rett syndrome characterised by early development of convulsions, usually of the spasm type. PMID:15689447

Scala, E; Ariani, F; Mari, F; Caselli, R; Pescucci, C; Longo, I; Meloni, I; Giachino, D; Bruttini, M; Hayek, G; Zappella, M; Renieri, A

2005-01-01

412

Exome Sequencing Is an Efficient Tool for Variant Late-Infantile Neuronal Ceroid Lipofuscinosis Molecular Diagnosis  

PubMed Central

The neuronal ceroid-lipofuscinoses (NCL) is a group of neurodegenerative disorders characterized by epilepsy, visual failure, progressive mental and motor deterioration, myoclonus, dementia and reduced life expectancy. Classically, NCL-affected individuals have been classified into six categories, which have been mainly defined regarding the clinical onset of symptoms. However, some patients cannot be easily included in a specific group because of significant variation in the age of onset and disease progression. Molecular genetics has emerged in recent years as a useful tool for enhancing NCL subtype classification. Fourteen NCL genetic forms (CLN1 to CLN14) have been described to date. The variant late-infantile form of the disease has been linked to CLN5, CLN6, CLN7 (MFSD8) and CLN8 mutations. Despite advances in the diagnosis of neurodegenerative disorders mutations in these genes may cause similar phenotypes, which rends difficult accurate candidate gene selection for direct sequencing. Three siblings who were affected by variant late-infantile NCL are reported in the present study. We used whole-exome sequencing, direct sequencing and in silico approaches to identify the molecular basis of the disease. We identified the novel c.1219T>C (p.Trp407Arg) and c.1361T>C (p.Met454Thr) MFSD8 pathogenic mutations. Our results highlighted next generation sequencing as a novel and powerful methodological approach for the rapid determination of the molecular diagnosis of NCL. They also provide information regarding the phenotypic and molecular spectrum of CLN7 disease. PMID:25333361

Ortega-Recalde, Oscar; Nallathambi, Jeyabalan; Anandula, Venkata Ramana; Renukaradhya, Umashankar; Laissue, Paul

2014-01-01

413

Malignancy in routine tonsillectomy specimens: a systematic literature review.  

PubMed

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

Rokkjaer, Malene Sine; Klug, Tejs Ehlers

2014-11-01

414

Fludarabine Based Conditioning for Allogeneic Transplantation for Advanced Hematologic Malignancies  

ClinicalTrials.gov

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

2014-03-27

415

The role of BCL11B in hematological malignancy  

PubMed Central

The B-cell leukemia/lymphoma 11B (BCL11B) gene is a member of the BCL family which plays a crucial role in the development, proliferation, differentiation and subsequent survival of T cells. BCL11B gene alterations are related to malignant T cell transformation that occurs in hematological malignancies. Remarkably, the BCL11B gene is responsible for the regulation of the apoptotic process and cell proliferation. This review summarizes current data and knowledge concerning the alteration of BCL11B in hematological malignancies and its role as a potential target for therapies directed against T cell malignancies. PMID:23211040

2012-01-01

416

Malignant Triton Tumor of the Sciatic Nerve as a Secondary Malignancy after Extended Field Radiotherapy and Chemotherapy of Hodgkin's Disease  

PubMed Central

Late effects of therapy for Hodgkin's disease include secondary malignancies like leukemia, lymphoma or solid tumors developing after long periods of latency. Ionizing radiation often causes the last group. The highest risks have been described for induced breast and lung cancers. We are the first to report a malignant triton tumor (MTT) as a secondary malignancy after radiotherapy and chemotherapy for Hodgkin's lymphoma. MTT is a very rare subtype of malignant peripheral nerve sheath tumors with rhabdomyoblastic differentiation and an aggressive course of disease. PMID:24803902

Nitsche, Mirko; Reible, Michael; Pflüger, Karl-Heinz; Bergmann, Markus; Hermann, Robert Michael

2014-01-01

417

Summary of worldwide pediatric malignancies reported after exposure to etanercept  

PubMed Central

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

2010-01-01

418

Giant Chorioangioma Treated In Utero via Laser of Feeding Vessels with Subsequent Development of Multifocal Infantile Hemangiomas.  

PubMed

We report a case of a giant placental chorioangioma (15.6 cm diameter) complicated by polyhydramnios and severe fetal heart failure. Fetoscopic laser occlusion of a dominant feeding vessel was performed at 29 weeks' gestation and partial devascularization was achieved. In the 33rd week of the pregnancy, the decision was made to preemptively deliver the fetus due to persistent signs of fetal cardiac failure. After birth, the infant developed multifocal infantile hemangiomas with extracutaneous involvement. We posit that the development of infantile hemangiomas may be linked to the presence of the large chorioangioma. Further study is required to ascertain if fetal treatment of the chorioangioma may have been an exacerbating factor. PMID:24941233

Jhun, Katrina M; Nassar, Paulo; Chen, Tina S; Sardesai, Smeeta; Chmait, Ramen H

2015-02-01

419

Malignant pleural mesothelioma: an epidemiological perspective  

PubMed Central

This paper reviews the aetiology, distribution and projected future incidence of malignant mesothelioma. Asbestos exposure is the most thoroughly established risk factor. Debate continues regarding the relative importance of the different asbestos fibre types and the contribution of Simian virus 40 (SV40). Disease incidence varies markedly within and between countries. The highest annual rates of disease, approximately 30 case per million, are reported in Australia and Great Britain. The risk of disease increases with age and is higher in men. Time from asbestos exposure to disease diagnosis is on average greater than 40 years. Non-occupational asbestos exposures contribute an increasing proportion of disease. With the exception of the United States, incidence continues to increase. In developed countries peak incidence is expected to occur before 2030. PMID:23977542

2012-01-01

420

Thoracic Computed Tomography Findings in Malignant Mesothelioma  

PubMed Central

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

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

2012-01-01

421

Primary Malignant Melanoma of the Urinary Bladder  

PubMed Central

Introduction. Primary melanoma of the urinary bladder is very rare. As far as we know, 19 cases have been reported worldwide, usually as case reports. Case Presentation. We present a 71-year-old male patient presented with a 2-month history of hematuria. Ultrasonography revealed a 5-cm-size mass located in the bladder trigone. A transurethral resection of the bladder tumor (TURBT) revealed a malignant melanoma. Evaluation for metastatic disease was negative. The patient deceased five months later before radical treatment could be performed. Conclusion. This is one more reported case of primary melanoma of the urinary bladder. The previously reported cases of bladder melanoma are reviewed. Therapy and prognosis are discussed. PMID:22606629

El Ammari, Jalal Eddine; Ahallal, Youness; El Fassi, Mohammed Jamal; Farih, Moulay Hassan

2011-01-01

422

[Superior vena cava syndrome with malignant causes].  

PubMed

Superior vena cava syndrome comprises various symptoms and signs resulting from the obstruction of the superior vena cava and resulting in reduced blood flow. Superior vena cava may occur secondary to a variety of conditions, but malignant etiologies are the most common. Usually, the diagnosis is based on a quite clear clinical presentation. Patient with acute presentation can develop life-threatening complications such as cerebral or laryngeal edema. In the absence of these two conditions, a histologic diagnosis should be obtained before the initiation of any therapy. Management of superior vena cava syndrome requires a multidisciplinary team. Therapeutic approaches include radiotherapy, chemotherapy and endovascular approach, and the choice of therapy will depend on the severity of the symptoms, the type and the stage of the tumor, but also the patient's general condition. PMID:25457217

Bellefqih, S; Khalil, J; Mezouri, I; Afif, M; Elmajjaoui, S; Kebdani, T; Benjaafar, N

2014-12-01

423

New approach to peritoneal surface malignancies  

PubMed Central

Peritoneal surface malignancies (PSM) are a clinical entity with an unfavourable prognosis. They comprise peritoneal carcinomatosis, pseudomyxoma peritonei, and primitive tumors of the peritoneum. Because the treatment of PSM presents unique and challenging problems to the cancer clinician, many new approaches have been attempted in recent years. In the current and next issues of World Journal of Gastrointestinal Oncology, some international groups of researchers discuss the most important and innovative aspects of PSM treatment, with particular accuracy for cytoreductive surgery and hyperthermic intraperitoneal chemotherapy. In conclusion, because this new approach to PSM has a reputation for being based more on common sense than on experimental data, I hope that highlighting this topic can make a contribution to the treatment of this group of diseases. PMID:21160811

Macrì, Antonio

2010-01-01

424

Cancer stem cells in haematological malignancies  

PubMed Central

At least several types of human haematological malignancies can now be seen as ‘stem-cell diseases’. The best-studied in this context is acute myeloid leukaemia (AML). It has been shown that these diseases are driven by a pool of ‘leukaemia stem cells (LSC)’, which remain in the quiescent state, have the capacity to survive and self-renew, and are responsible for the recurrence of cancer after classical chemotherapy. It has been understood that LSC must be eliminated in order to cure patients suffering from haematological cancers. Recent advances in LSC research have allowed for description of LSC phenotype and identification of potential targets for anti-LSC therapies. This concise review summarises the current view on LSC biology and targeted approaches against LSC.

Golab, Jakub

2015-01-01

425

Evolving Ablative Therapies for Hepatic Malignancy  

PubMed Central

The liver is a common site for both primary and secondary malignancy. Hepatic resection and transplantation are the two treatment modalities that have been shown to achieve complete cure, but only 10 to 20% of patients are candidates for these treatments. For the remaining patients, tumor ablation has emerged as the most promising alternative modality. In addition to providing local control and improving survival outcomes, tumor ablation also helps to down stage patients for potential curative treatments, both alone as well as in combination with other treatments. While tumor ablation can be achieved in multiple ways, the introduction of newer ablative techniques has shifted the focus from palliation to potentially curative treatment. Because the long-term safety and survival benefits are not substantive at present, it is important that we strive to evaluate the results from these studies using appropriate comparative outcome methodologies. PMID:24877069

Hochwald, Steven N.

2014-01-01

426

Adult Ocular Toxocariasis Mimicking Ciliary Body Malignancy  

PubMed Central

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

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

2014-01-01

427

Elastin turnover in malignant solid tumors.  

PubMed

Desmosine, a crosslinking amino acid unique to elastin, was investigated as a possible biomarker for cancer. Twenty-eight normal controls, median age 67 years, had a median value for urine desmosine of 43.5 picomoles desmosine/mg creatinine. The median for 19 untreated cancer subjects of similar age was significantly higher (175 picomoles desmosine/mg creatinine, p < 0.001). Urine desmosine levels in 55 subjects currently receiving chemotherapy, as well as 67 individuals who had survived cancer and were currently clinically disease free, were not significantly different from controls. Our findings indicate that elastin is being turned over in malignant solid tumors, releasing significantly elevated levels of desmosine in the urine. PMID:23869612

Starcher, Barry; Sauter, Edward; Ho, Coty

2013-01-01

428

Targeted signal transduction therapies in myeloid malignancies.  

PubMed

The myeloid malignancies include the myeloproliferative neoplasms (MPN) including chronic myeloid leukemia (CML), and acute myeloid leukemia (AML). A growing body of evidence documents that these diseases are caused by genetic mutations that constitutively activate tyrosine kinases. They include the BCR/ABL in CML, the V617F JAK2 in Philadelphia chromosome-negative MPN, and the Flt3 ITD and TKD mutations in AML. Trials of the ABL kinase inhibitor, imatinib, have revolutionized the treatment of CML, and there are ongoing studies with other kinase inhibitors in MPN and AML. Here we review results of recent studies with first-generation JAK2 inhibitors in the treatment of MPN and second-generation ABL and Flt3 inhibitors in CML and AML, respectively. It is becoming apparent that although these kinase mutations have similar effects in vitro, each of the diseases has unique features that alter the use of kinase inhibitors in the clinic. PMID:20809224

Scott, Emma; Hexner, Elizabeth; Perl, Alexander; Carroll, Martin

2010-11-01

429

Malignant pleural effusion and algorithm management  

PubMed Central

Involvement of the pleura in lung cancer is a common manifestation accompanying with reduced life expectancy. Symptoms relief and improvement of the quality of life are the primary goals of the management of malignant pleural effusion (MPE). Histological confirmation is essential for optimal patient management. Lung cancer patients, with life expectancy more than 3 months, resistant to chemotherapy should be treated with thoracentesis, intercoastal tube drainage and installation of a sclerosant agent or pleurodesis through thoracospopic procedures or placement of an indwelling pleura catheter. Talc pleurodesis (sterile asbestos-free graded, particle size >15 ?m), as “poudrage” or “slurry” still remains the treatment of choice in patients with MPE resistant to chemotherapy. PMID:24102015

Zarogoulidis, Konstantinos; Darwiche, Kaid; Tsakiridis, Kosmas; Machairiotis, Nikolaos; Kougioumtzi, Ioanna; Courcoutsakis, Nikolaos; Terzi, Eirini; Zaric, Bojan; Huang, Haidong; Freitag, Lutz; Spyratos, Dionysios

2013-01-01

430

[Cytoreductive surgery for malignant peritoneal tumors].  

PubMed

Cytoreductive surgery is an essential part of a multimodality treatment concept for peritoneal metastases. Indications are primary peritoneal tumors like peritoneal mesothelioma or secondaries from colorectal cancer or pseudomyxoma peritonei. Patients with gastric or ovarian carcinoma or abdominal sarcoma with peritoneal seedings can be treated within studies. Tumor entity, tumor load, and tumor distribution are the most critical issues for patient selection. Complete macroscopic cytoreduction is the strongest prognostic factor and can be achieved by parietal and visceral peritonectomy. The operation should be performed in a standardized manner. Due to possible tumor manifestation in all four quadrants of the abdomen and extensive extraperitoneal dissection, extensive surgical and oncological expertise is prerequisite. Treatment in specialized surgical oncology centers is recommended to minimize morbidity and mortality. The German Society for General and Visceral Surgery is certifying centers of competence for surgical treatment of peritoneal malignancies. Data of all patients are documented in the HIPEC register. The inclusion of patients in studies is recommended. PMID:24722868

Piso, P; Leebmann, H; März, L; Mayr, M

2015-01-01

431

Malignant Lues in an immunocompetent patient.  

PubMed

Malignant Lues is a rare form of secondary syphilis mostly associated with HIV infection. It is an uncommon presentation of syphilis even rarer in immunocompetent patients. We present the case of a 57-year-old homosexual man referred to our department due to a 4-month history of a disseminated, slightly painful, nodular-ulcerative cutaneous eruption associated with low-grade fever, malaise and asthenia. Regarding the clinical features and serological and histopathological findings, the diagnosis of syphilis maligna was assumed. Serology for HIV was repeatedly negative. This case is interesting, not only because a very uncommon form of secondary syphilis was identified but also for being diagnosed in an immunocompetent patient. Lack of awareness of this type of presentation delays the diagnosis and treatment, leading to an increase in morbidity and spread of infection. PMID:25015934

Alves, João; António, Ana Marta; Matos, Diogo; Coelho, Ricardo; Cachão, Pedro

2014-07-11

432

Genetic Variation and its Role in Malignancy  

PubMed Central

Genetic variation has long been thought associated with common complex disease and has therefore been widely studied. Genetic variation in the human genome is present in many forms and have been summarised in this review. The potential role of DNA damage, DNA repair and environmental influence on genetic variation in the development of cancer will be discussed, before significant genome projects are reviewed. All the various forms of genetic variation have been associated with malignancies and have been extensively studied and this is a review of the state of the field. We also discuss the road ahead in fulfilling the ultimate goal in all cancer genetic studies, which is decreasing deaths caused by cancer. PMID:23675233

Talseth-Palmer, Bente A.; Scott, Rodney J.

2011-01-01

433

Environmental asbestos exposure and malignant pleural mesothelioma.  

PubMed

Asbestos-related benign and malignant pleural diseases are endemic in some rural parts of central Turkey because of environmental exposure to asbestos fibres. We report here epidemiological data on 113 patients with diffuse malignant pleural mesothelioma (DMPM) diagnosed in our clinic in Eski?ehir, located in central Turkey. Of the 113 patients, 59 were men and 54 women (male:female ratio = 1). Ninety-seven patients (86%) had non-occupational asbestos exposure; all were living in villages. Their mean age was 56 years. As the patients had been exposed to asbestos from birth, the latency period was equivalent to the age of the patients. Twenty-eight patients (29%) had lived in villages their entire lives. The other 69 (71%) had been born in a village but migrated to the city or had given up white-soil usage for various reasons. The mean exposure time was 55 years for those with a long exposure period and 25 years for those with a short exposure period, but there was no significant difference between the age of the disease appearance for both groups (55 and 56 years, respectively). Thus, the latency time of mesothelioma due to environmental exposure to asbestos was longer than that due to occupational exposure, but independent of the length of exposure. Soil samples from 67 villages were analysed, comprising a population of 10,120 villagers. Tremolite and some other types of asbestos were found. In conclusion, DMPM in our region is due to mainly to environmental exposure to asbestos. The risk is substantial as a large proportion of the villagers are exposed. After smoking, asbestos exposure is one of the most serious health hazards in our rural population. PMID:10464903

Metintas, M; Ozdemir, N; Hillerdal, G; Uçgun, I; Metintas, S; Baykul, C; Elbek, O; Mutlu, S; Kolsuz, M

1999-05-01

434

Risk of hematological malignancies among Chernobyl liquidators  

PubMed Central

A case-control study of hematological malignancies was conducted among Chernobyl liquidators (accident recovery workers) from Belarus, Russia and Baltic countries in order to assess the effect of low-to-medium dose protracted radiation exposures on the relative risk of these diseases. The study was nested within cohorts of liquidators who had worked in 1986–87 around the Chernobyl plant. 117 cases (69 leukemia, 34 non-Hodgkin Lymphoma (NHL) and 14 other malignancies of lymphoid and hematopoietic tissue) and 481 matched controls were included in the study. Individual dose to the bone marrow and uncertainties were estimated for each subject. The main analyses were restricted to 70 cases (40 leukemia, 20 NHL and 10 other) and their 287 matched controls with reliable information on work in the Chernobyl area. Most subjects received very low doses (median 13 mGy). For all diagnoses combined, a significantly elevated OR was seen at doses of 200 mGy and above. The Excess Relative Risk (ERR) per 100 mGy was 0.60 (90% confidence interval (CI): ?0.02, 2.35). The corresponding estimate for leukemia excluding chronic lymphoid leukemia (CLL) was 0.50 (90%CI ?0.38, 5.7). It is slightly higher than, but statistically compatible with, those estimated from a-bomb survivors and recent low dose-rate studies. Although sensitivity analyses showed generally similar results, we cannot rule out the possibility that biases and uncertainties could have led to over or underestimation of the risk in this study. PMID:19138033

Kesminiene, Ausrele; Evrard, Anne-Sophie; Ivanov, Viktor K.; Malakhova, Irina V.; Kurtinaitis, Juozas; Stengrevics, Aivars; Tekkel, Mare; Anspaugh, Lynn R.; Bouville, André; Chekin, Sergei; Chumak, Vadim V.; Drozdovitch, Vladimir; Gapanovich, Vladimir; Golovanov, Ivan; Hubert, Phillip; Illichev, Sergei V.; Khait, Svetlana E.; Krjuchkov, Viktor P.; Maceika, Evaldas; Maksyoutov, Marat; Mirkhaidarov, Anatoly K.; Polyakov, Semion; Shchukina, Natalia; Tenet, Vanessa; Tserakhovich, Tatyana I.; Tsykalo, Aleksandr; Tukov, Aleksandr R.; Cardis, Elisabeth

2010-01-01

435

Complement-regulatory proteins in ovarian malignancies.  

PubMed

Ovarian cancer has features that makes it well-suited for MAb adjuvant immunotherapy. Several of the MAbs used in clinical trials mediate cancer cell destruction by activation of complement (C). In this study, therefore, we examined the ability of ovarian-tumor cells to resist C attack. We found that the C regulators membrane cofactor protein (MCP, CD46) and protectin (CD59) were strongly expressed in the tumor cells in all 28 benign and malignant tumors examined. Decay-accelerating factor (DAF; CD55) was more heterogeneously expressed, and only 75% of the tumors exhibited a moderate amount of DAF in the tumor cells. In adenoma cells, CD59 and DAF were preferentially located apically, while in adenocarcinoma cells they were expressed also at the basolateral cell surface. The ovarian-carcinoma cell lines SK-OV-3, Caov-3, SW626 and PA-1 expressed both the 58- and the 68-kDa isoforms of MCP. DAF was present as a glycosyl-phosphatidylinositol(GPI)-anchored 70-kDa glycoprotein. The surface-expression level of DAF varied, and correlated with the vulnerability of the cells to C-mediated lysis. CD59 was expressed as a GPI-linked 19- to 25-kDa protein exhibiting multiple glycosylation variants. The surface expression of CD59 correlated with the amount of the main 1.9 + 2.1-kb CD59 mRNA transcripts. Neutralization of CD59 with an anti-CD59 MAb significantly enhanced C-mediated killing of the cell lines. Low expression of C regulators on the PA-1 teratocarcinoma cell line was associated with high sensitivity to C lysis. Thus, the expression of C regulators on malignant ovarian cells may constitute a tumor escape mechanism, and is a critical parameter to be examined when MAb therapy is being considered. PMID:8985085

Bjørge, L; Hakulinen, J; Wahlström, T; Matre, R; Meri, S

1997-01-01

436

Adult Celiac Disease and Its Malignant Complications  

PubMed Central

Adult celiac disease is a chronic intestinal disorder that has been estimated to affect up to 1-2% of the population in some nations. Awareness of the disease has increased, but still it remains markedly underdiagnosed. Celiac disease is a pathologically defined condition with several characteristic clinical scenarios that should lead the clinician to suspect its presence. Critical to diagnosis is a documented responsiveness to a gluten-free diet. After diagnosis and treatment, symptoms and biopsy-proven changes may recur and appear refractory to a gluten-free diet. Recurrent symptoms are most often due to poor diet compliance, a ubiquitous and unrecognized gluten source, an initially incorrect diagnosis, or an associated disease or complication of celiac disease. Some patients with persistent symptoms and biopsy-proven changes may not have celiac disease at all, instead suffering from a sprue-like intestinal disease, so-called unclassified sprue, which is a specific entity that does not appear to respond to a gluten-free diet. Some of these patients eventually prove to have an underlying malignant cause, particularly lymphoma. The risk of developing lymphoma and other malignancies is increased in celiac disease, especially if initially diagnosed in the elderly, or late in the clinical course of the disease. However, recent studies suggest that the risk of gastric and colon cancer is low. This has led to the hypothesis that untreated celiac disease may be protective, possibly due to impaired absorption and more rapid excretion of fat or fat-soluble agents, including hydrocarbons and other putative cocarcinogens, which are implicated in the pathogenesis of colorectal cancer. PMID:20431755

2009-01-01

437

Farnesyltransferase inhibitors in hematologic malignancies: new horizons in therapy  

Microsoft Academic Search

Farnesyltransferase inhibitors (FTIs) are small-molecule inhibitors that selectively inhibit farnesylation of a number of intra- cellular substrate proteins such as Ras. Preclinical work has revealed their ability to effectively inhibit tumor growth across a wide range of malignant phenotypes. Many hematologic malignancies appear to be reasonable disease targets, in that they express relevant biologic targets, such as Ras, mitogen-activated protein

Jeffrey E. Lancet; Judith E. Karp

2003-01-01

438

Screening for malignant melanoma: A cost-effectiveness analysis  

Microsoft Academic Search

Background: Skin cancer is the most common cancer in the United States. Increasing evidence suggests that screening for malignant melanoma is effective, but its cost-effectiveness has not been determined. Objective: We attempted to determine the effectiveness and costs of a visual screen to diagnose malignant melanoma in high-risk persons. Methods: We developed a decision analysis comparing no skin cancer screen

Kenneth A. Freedberg; Alan C. Geller; Donald R. Miller; Robert A. Lew; Howard K. Koh

1999-01-01

439

Proliferation of human malignant astrocytomas is dependent on Ras activation  

Microsoft Academic Search

Overexpression and activation of receptor tyrosine kinases, such as platelet derived growth factor receptors (PDGFRs) and epidermal growth factor receptor (EGFR), leads to proliferation of human malignant astrocytoma cells. Although oncogenic mutations affecting Ras are not prevalent in human malignant astrocytomas, we have investigated whether levels of activated Ras.GTP might be elevated in these tumors secondary to the mitogenic signals

Abhijit Guha; Matthias M Feldkamp; Nelson Lau; Gerry Boss; Anthony Pawson

1997-01-01

440

Incidence of primary malignant orbital tumours in the Netherlands  

PubMed Central

Aims To describe the incidence and relative frequencies of primary malignant orbital tumours in the Netherlands from 1989 to 2006. Methods All registered primary malignant orbital tumours were extracted from the population-based database of the Netherlands Cancer Registry. Age-adjusted incidence of malignant orbital tumours per 10?000?000 persons per year and the estimated annual percentage change (EAPC) were computed. Results A total of 367 malignant orbital tumours were registered. The average age-adjusted incidence of malignant orbital tumours is 10.9. Lymphoma has a relative frequency of 67%, rhabdomyosarcoma 12%, adenocarcinoma 6%, and adenoid cystic carcinoma 5%. The incidence of primary malignant orbital tumours has been increasing in the Netherlands (EAPC +2.8%). Conclusion In the Netherlands, lymphoma is the most common primary malignant orbital tumour, followed by rhabdomyosarcoma, adenocarcinoma, and adenoid cystic carcinoma. The relative frequencies of the different histological tumour types are comparable to the frequencies in other parts of the world. The incidence of malignant primary orbital tumours shows a slight increase between 1989 and 2006. PMID:21336252

Koopman, J H; van der Heiden-van der Loo, M; van Dijk, M R; Bijlsma, W R

2011-01-01

441

Talc mediates angiostasis in malignant pleural effusions via endostatin induction  

Microsoft Academic Search

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

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

2007-01-01

442

Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease  

Microsoft Academic Search

Niemann-Pick type C (NPC) disease is a fatal recessively inherited lysosomal cholesterol-sphingolipidosis. Mutations in the NPC1 gene cause ? 95% of the cases,the rest being caused by NPC2 mutations. Here the molecular basis of a severe infantile form of the disease was dissected. The level of NPC1 protein in the patient fibroblasts was similar to that in control cells. However,the

Titta S. Blom; Matts D. Linder; Karen Snow; Helena Pihko; Michael W. Hess; Eija Jokitalo; Ville Veckman; Ann-Christine Syvanen; Elina Ikonen

2003-01-01

443

Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in classic-infantile patients with Pompe disease  

PubMed Central

Background Infantile Pompe disease is a rare metabolic disease. Patients generally do not survive the first year of life. Enzyme replacement therapy (ERT) has proven to have substantial effects on survival in infantile Pompe disease. However, the costs of therapy are very high. In this paper, we assess the cost-effectiveness of enzyme replacement therapy in infantile Pompe disease. Methods A patient simulation model was used to compare costs and effects of ERT with costs of effects of supportive therapy (ST). The model was filled with data on survival, quality of life and costs. For both arms of the model, data on survival were obtained from international literature. In addition, survival as observed among 20 classic-infantile Dutch patients, who all received ERT, was used. Quality of life was measured using the EQ-5D and assumed to be the same in both treatment groups. Costs included the costs of ERT (which depend on a child’s weight), infusions, costs of other health care utilization, and informal care. A lifetime time horizon was used, with 6-month time cycles. Results Life expectancy was significantly longer in the ERT group than in the ST group. On average, ST receiving patients were modelled not to survive the first half year of life; whereas the life expectancy in the ERT patients was modelled to be almost 14 years. Lifetime incremental QALYs were 6.8. Incremental costs were estimated to be € 7.0 million, which primarily consisted of treatment costs (95%). The incremental costs per QALY were estimated to be € 1.0 million (range sensitivity analyses: € 0.3 million - € 1.3 million). The incremental cost per life year gained was estimated to be € 0.5 million. Conclusions The incremental costs per QALY ratio is far above the conventional threshold values. Results from univariate and probabilistic sensitivity analyses showed the robustness of the results. PMID:24884717

2014-01-01

444

Epilepsy and Other Neurological Diseases in the Parents of Children with Infantile Autism. A Case Control Study  

Microsoft Academic Search

In order to study the broader phenotype of infantile autism (IA) we compared the rates and types of epilepsy and other neurological\\u000a diseases in the parents of 111 consecutively admitted patients with IA with a matched control group of parents of 330 children\\u000a from the general population. All participants were screened through the nationwide Danish National Hospital Register (DNHR).\\u000a We

Svend Erik Mouridsen; Bente Rich; Torben Isager

2008-01-01

445

Systemic Administration of Tripeptidyl Peptidase I in a Mouse Model of Late Infantile Neuronal Ceroid Lipofuscinosis: Effect of Glycan Modification  

Microsoft Academic Search

Late-infantile neuronal ceroid lipofuscinosis (LINCL) is a recessive genetic disease of childhood caused by deficiencies in the lysosomal protease tripeptidyl peptidase I (TPP1). Disease is characterized by progressive and extensive neuronal death. One hurdle towards development of enzyme replacement therapy is delivery of TPP1 to the brain. In this study, we evaluated the effect of modifying N-linked glycans on recombinant

Yu Meng; Istvan Sohar; Lingling Wang; David E. Sleat; Peter Lobel

2012-01-01

446

Early Proximal Tibial Valgus Osteotomy as a Very Important Prognostic Factor in Thai Children with Infantile Tibia Vara  

Microsoft Academic Search

Objectives: To find the effectiveness of the early surgery (2-3 years of age)as a very important prognostic factor affecting the outcomes in Thai children with infantile tibia vara and all the prognostic factors including the usefulness of arthrographic study in correcting the deformity. Material and Method: From1994 to 2004,sixteen children aged average 3.61 years old (2.08-7.0) were treated in Siriraj

Kamolporn Kaewpornsawan; Suksan Tangsataporn; Ratiporn Jatunarapit

447

Malignant abdominal rocks: where do they come from?  

PubMed Central

Abstract For the radiologist, calcifications in an abdominal malignancy raise questions of both diagnostic and prognostic significance. Although certain cancers are well known to calcify, such as colorectal and ovarian, malignant abdominal calcifications actually arise from a wide variety of epithelial, mesenchymal, lymphoid, or germ cell neoplasms. The pathophysiology of calcification in abdominal malignancies is heterogeneous and incompletely understood. Calcifications may present primarily, in untreated tumors, or develop during treatment; the latter can occur in variable clinical settings. A basic understanding of the varied pathogenic etiology can assist the radiologist in assessing disease status. By presenting an assortment of calcified abdominal malignancies on computed tomography in varied clinical settings, we aim not only to inform the differential diagnosis, but also to clarify the prognosis of calcifications in abdominal malignancies. PMID:24334568

Cheng, Joan M.; Kim, Kyung Won; Saboo, Sachin S.; Baez, Juan C.; Shinagare, Atul B.

2013-01-01

448

HIV/AIDS associated malignancies of the head and neck.  

PubMed

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

Bunn, B K; van Heerden, W F P

2012-11-01

449

Malignant cancer and invasive placentation: A case for positive pleiotropy between endometrial and malignancy phenotypes.  

PubMed

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

D'Souza, Alaric W; Wagner, Günter P

2014-01-01

450

Cytogenetic analysis of a malignant triton tumor and a malignant peripheral nerve sheath tumor and a review of the literature  

Microsoft Academic Search

Cytogenetic analyses of malignant peripheral nerve sheath tumors (MPNST) and malignant triton tumors (MTT) are few to date. Two separate triton tumor specimens from one patient and a MPNST specimen from another patient, both with peripheral neurofibromatosis (NF-1, von Recklinghausen disease), showed complex near-triploid complements and partial deletion of the short arm of chromosome 1. Notably, a structural abnormality of

Erin N. McComb; Rodney D. McComb; Joanne M. DeBoer; James R. Neff; Julia A. Bridge

1996-01-01

451

[Infantile visceral leishmaniasis in the Campania region, Italy: experience from a Paediatric Referral Centre].  

PubMed

In the first half of the 20th century, visceral leishmaniasis (VL) was a common infantile syndrome in coastal territories of the Campania region of Italy. After World War II, the incidence dropped to a few cases/year for three decades; in late 1980s the disease reemerged among both children and adults. To face the VL recrudescence, a Paediatric Reference Centre was established at the Santobono-Pausilipon hospital in Naples, for the clinical diagnosis, care and drug treatment of all infantile VL cases occurred in the Campania region. Rapid laboratory diagnosis was secured by a Diagnostic Reference Centre established at the Istituto Superiore di Sanità. Here, we report on the epidemiological and parasitological features of all cases referred to the Centre in the past 15 years. From 1990 to March 2004, a total of 255 cases were diagnosed and treated at the Centre. The Figure shows the yearly trend of patients (min. 3 cases in 1990 and 1991, max. 30 cases in 2000). There were 135 males (52.9%); the age ranged 4 months-14 years, but 189 patients (74.1%) were < or = 3 years old. The majority of the patients (189, 74.1%) were from the Naples province, with a cluster of 102 cases (40% of total patients) from the towns and districts surrounding Vesuvius. Twenty-seven cases (10.6%) were from the town of Maddaloni, Caserta province, whereas 15 cases (5.9%) were from coastal villages of the Salerno province. Only 1 and 2 cases were from Benevento and Avellino provinces, respectively. All patients but seven, who have been treated with antimonial drugs in the 1990-1993 period, were successfully treated with a liposomal amphotericin B regimen. From bone-marrow aspirate samples, 138 Leishmania cultures were obtained in EMTM and Sloppy Evans' media, of which 134 have been typed by the electrophoretic analysis of 13 isoenzymes. Two zymodemes (Z) of L. infantum were routinely identified over the study period, ZMON-1 (the commonest zymodeme in the Mediterranean area) and ZMON-72, variant from MON-1 in PGM mobility and detected only in our region. The latter, identified in 61 patients (45.5%), was found exclusively distributed in towns of the Vesuvius area and in Maddaloni until 1996, but in recent years it appears to have spread to other areas of the Naples (including the island of Ischia) and Caserta provinces, but not to Salerno province. In conclusion, the VL macrofocus of the Naples-Caserta area is probably responsible for the highest number of infantile cases among any VL macrofoci described in southern Europe. Considering the limited efforts paid to control the canine reservoir, rapid diagnosis and appropriate treatment of patients still remain the first-line control measures aimed at reducing the health impact of the disease. PMID:15305721

di Martino, L; Gramiccia, M; Occorsio, P; Di Muccio, T; Scalone, A; Gradoni, L

2004-06-01

452

Infantile autism: a chronic psychosis since infancy due to synaptic pruning of the supplementary motor area.  

PubMed

The rise in Infantile Autism, learning problems, cognitive decline with age, Alzheimer's, Parkinson's Diseases and the SIDS epidemic, has a common cause in the rising dietary deficit in Omega-3 brain-food. This paper suggests that aside from the wider concept of Autism Spectrum Disorders (ASD) and Pervasive Developmental Disorders (PDD), the rise in Infantile Autism (IA) in the last decade is the effect of deficient brain-food (Omega-3). The consequent delay of development prolongs the 2nd regressive event in infancy to pruning of the centre in the Medial Frontal Lobe System that connects Hippocampus and Cingulum. With a consequently defective Supplementary Motor Area (SMA), the Delayed Response Function is affected leading to persistent psychosis. Post-Pubertal Episodic Psychoses are associated with acute reduction of excitation, a risk of breakdown of circuitry, insufficient fill-in mechanisms, and silent spots. An acute psychosis occurs if the silent spots comprise of SMA. Only two brain areas have continuous neurogenesis, indicating their important functions: the Hippocampus and Olfactory Bulb that belongs to the Lateral Frontal Lobe System essential to survival. Concerned with necessity of action in response to the environment, it relies upon short-term memory and Acute Feedback Mechanisms influenced by emotion and motivation from the external world. In contrast, the Medial Frontal Lobe network is controlled by Feed-Forward Predictive Mechanisms related to storage of information. The Delayed Response Function is mastered at 7 months, when 2nd event occurs with pruning of axons and dendrites. An abolished or defective Delayed Response Function seriously incapacitates an individual: A defective "Social Brain" with an inability for conscious action and to communicate, predominates in IA. There is a near lack of speech, despite normal vision and hearing in the minority without marked adversity in pregnancy, at delivery or in infancy. I propose that the recent rise in IA despite no rise in adversity signifies a rising deficiency in brain-food. That this is so is suggested by a changing clinical picture: no Mental Retardation in an IA majority. Deficit in Olfaction is pathognomonic in schizophrenia since 30 yrs and distinguishes the Asperger Syndrome. If brain-food deficiency alone sufficiently prolongs pruning to cause absent activity in SMA in infancy, less mentally retarded IA from other causes might be observed. Deficit in brain-food was evident in the Sudden Infant Death Syndrome: birthweight averaged 200-300 g lower than sibs, Omega-3 levels in brainstem were lower than controls. Only 20 % SIDS died in first hypoxic episode, suggesting such episodes are more frequent than we imagined. Children with learning-behaviour problems have similarly depressed birthweight. A general deficiency in Omega-3 contributes to the lacking reduction in Schizophrenia, despite early puberty predominates. Olfactory Bulb is first affected in the Alzheimer's and Parkinson's Disease. Cognitive decline with age, Hippocampal dysfunctions rise markedly irrespective of disease, but the major mental illnesses and Infantile Autism in particular, benefit from "brain-food" that might also prevent a development of these disorders. To secure optimal brain function in the coming generations, there is a need to change the diet now from its emphasis on protein for body growth to food for the brain. This means there is a need to increase fish and sea food consumption. PMID:19326737

Saugstad, Letten F

2008-01-01

453

Infantile autism: a chronic psychosis since infancy due to synaptic pruning of the supplementary motor area.  

PubMed

The rise in infantile autism, learning problems, cognitive decline with age, Alzheimer's, Parkinson's diseases and the SIDS epidemic, has a common cause in the rising dietary deficit in Omega-3 brain-food. This paper suggests that aside from the wider concept of autism spectrum disorders (ASD) and pervasive developmental disorders (PDD), the rise in infantile autism (IA) in the last decade is the effect of deficient brain-food (Omega-3). The consequent delay of development, prolongs the 2nd regressive event in infancy to pruning of the centre in the Medial Frontal Lobe System that connects hippocampus and singulum. With a consequently defective supplementary motor area (SMA), the Delayed Response Function is affected leading to persistent psychosis. Post-pubertal episodic psychoses are associated with acute reduction of excitation, a risk of breakdown of circuitry, insufficient fill-in mechanisms, and silent spots. An acute psychosis occurs if the silent spots compromise SMA. Only two brain areas have continuous neurogenesis, indicating their important functions: the Hippocampus and Olfactory Bulb that belongs to the lateral frontal lobe system essential to survival. Concerned with necessity of action in response to the environment, it relies upon short-term memory and acute feedback mechanisms influenced by emotion and motivation from the external world. In contrast, the medial frontal lobe network is controlled by feed-forward predictive mechanisms related to storage of information The Delayed Response Function is mastered at 7 months, when 2nd event occurs with pruning of axons and dendrites. An abolished or defective delayed response function seriously incapacitates an individual: a defective "social brain" with an inability for conscious action and to communicate, predominates in IA. There is a near lack of speech, despite normal vision and hearing in the minority without marked adversity in pregnancy, at delivery or in infancy. The recent rise in IA despite no rise in adversity signifies a rising deficiency in brain-food. This is suggested by a changing clinical picture: no Mental Retardation in an IA majority. Deficit in olfaction is pathognomonic in schizophrenia since 30 yrs and distinguishes the Asperger syndrome. If brain-food deficiency alone sufficiently prolongs pruning to cause absent activity in SMA in infancy, less mentally retarded IA from other causes might be observed. Deficit in brain-food was evident in the Sudden Infant Death Syndrome: birthweight averaged 200-300g lower than sibs, Omega-3 levels in brainstem were lower than controls. Only 20% SIDS died in first hypoxic episode, suggesting such episodes are more frequent than we imagined. Children with learning-behaviour problems have similarly depressed birthweight. A general deficiency in omega-3 contributes to the lacking reduction in Schizophrenia, despite early puberty predominates. Olfactory bulb is first affected in the Alzheimer's and Parkinson's disease. Cognitive decline with age, hippocampal dysfunctions rises markedly irrespective of disease, but the major mental illnesses and Infantile Autism in particular, benefit from "brainfood" that might also prevent a development of these disorders. To secure optimal brain function in the coming generations, there is a need to change the diet now from its emphasis on protein for body growth to food for the brain. This means there is a need to increase fish and sea food consumption. PMID:22141191

Saugstad, Letten F

2011-01-01

454

Imaging Diagnosis of Neonatal Anemia: Report of Two Unusual Etiologies  

PubMed Central

Anemia in neonatal period is rare, with the common causes being Rh and ABO blood group incompatibility, hemorrhagic disease of newborn, congenital hemolytic anemia, hemoglobinopathies, and TORCH (toxoplasmosis, rubella, cytomegalovirus, herpes virus) infections. Congenital leukemia and infantile osteopetrosis (OP) are among the rare causes of neonatal anemia. A review of the literature shows approximately 200 reported cases of congenital leukemia. Articles describing the imaging features of congenital leukemia are still rarer. Infantile OP, another rare disorder with a reported incidence of 1 in 250,000 has characteristic imaging features, which are diagnostic of the disease. We report a case each, of two rare diseases: Congenital leukemia and infantile osteopetrosis. Additionally, our report highlights the radiological and imaging features of congenital leukemia and infantile OP and their crucial role in arriving at an early diagnosis. PMID:24605254

Grover, Shabnam Bhandari; Preethi, G Rajalakshmi; Saluja, Sumita; Bhargava, Ankit

2013-01-01

455

Differentially Expressed Proteins in Malignant and Benign Adrenocortical Tumors  

PubMed Central

We have compared the microsomal protein composition of eight malignant and six benign adrenocortical tumors with proteomic methods. IGF2 had increased level in the malignant tumors, confirming previous microarray studies on the same material. Aldolase A, a glycolytic enzyme, also showed increased levels in the malignant tissue compared to the benign. Additionally, several proteins belonging to complex I in the mitochondrial respiration chain showed decreased levels in the malignant tissue. Taken together, this may indicate a shift in energy metabolism where glycolysis may be favored over tight coupling of glycolysis and mitochondrial respiration, a phenomenon known as the Warburg effect. One of the complex I proteins that showed decreased levels in the malignant tissue was GRIM-19. This protein has been suggested as a tumor suppressive protein by being a negative regulator of STAT3. In summary, an analysis of the microsomal proteome in adrenocortical tumors identifies groups of proteins as well as specific proteins differentially expressed in the benign and malignant forms. These proteins shed light on the biology behind malignancy and could delineate future drug targets. PMID:24498411

Kjellin, Hanna; Johansson, Henrik; Höög, Anders; Lehtiö, Janne

2014-01-01

456

Late mortality after hematopoietic SCT for a childhood malignancy.  

PubMed

Hematopoietic SCT (HSCT) has been used as a curative therapy for pediatric malignancies. Survivors of HSCT are at risk for disease recurrence, late morbidity and mortality. We assessed late mortality (?2 years post-HSCT) in a population-based cohort of children who underwent HSCT for a malignancy. Mortality outcomes were determined by linking a clinical transplant database with the Canadian province of Ontario's pediatric cancer mortality files. Seven hundred and fifty-four children underwent HSCT (371 allogeneic, 383 autologous). Of the 479 (63.5%) who were alive ?2 years post HSCT, 98 (20.5%) suffered a late death. Late mortality in the allogeneic HSCT group was 14.9% (median follow-up 10.0 years; range: 2.0-25.6 years), mainly due to relapse of the primary malignancy (64.7%). Chronic GVHD and second malignancies were not major causes of late mortality. A total of 25.5% suffered a late death following autologous HSCT (median follow-up 6.7 years; range: 2.0-22.2 years). Recurrence of the primary malignancy accounted for 87.5% of these deaths. Recurrence of the primary malignancy is the predominant cause of late mortality after HSCT. In contrast to studies of adult patients, non-relapse mortality is less common in children, and death due to chronic GVHD and secondary malignancies is uncommon. PMID:23665822

Schechter, T; Pole, J D; Darmawikarta, D; Doyle, J; Ali, M; Egeler, M; Gassas, A; Irwin, M S; Greenberg, M; Nathan, P C

2013-10-01

457

Malignant pleural mesothelioma initially diagnosed on cervical lymph node biopsy.  

PubMed

Reported herein is a case of malignant pleural mesothelioma, initially diagnosed on cervical lymph node biopsy. A 58-year-old man, without obvious evidence of asbestos exposure, exhibited repeated pleural effusion (cause unclear), which was resolved by diuretics. A neck mass was apparent and was identified pathologically as a lymph node metastasis of malignant mesothelioma. F-18 fluorodeoxyglucose positron emission tomography/CT established the diagnosis of malignant pleural mesothelioma. Two conclusions emerge from this report: (i) cervical lymph node metastasis of pleural mesothelioma, although rare, should be included in differential diagnosis; and (ii) positron emission tomography/CT is useful for establishing a diagnosis of mesothelioma. PMID:19627545