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A Case Report of Malignant Infantile Osteopetrosis  

PubMed Central

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

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



Infantile or Malignant Osteopetrosis: Case Report of Two Siblings  

PubMed Central

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

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



Infantile osteomyelitis secondary to malignant osteopetrosis.  


Osteopetrosis (OP) is a rare congenital disorder (present at birth) in which the bones become over dense. This results from an imbalance between the formation of bone and the resorption of the bone. Thickening of the bones which become abnormally dense due to an inherited defect in bone resorption, the process in which old bone is broken down and removed so that new bone can be added to the skeleton. Osteoclasts are the cells responsible for bone resorption. In osteopetrosis the osteoclasts do not perform normally. This flaw in bone resorption results in bones that are abnormally dense, yet are fragile and easily broken. Osteopetrosis is also known as Albers-Schonberg disease, generalized congenital osteosclerosis, ivory bones, marble bones, osteosclerosis fragilis generalisata. In this article, we have described about the diagnosis and medical and surgical management of osteopetrosis reported case to our hospital. PMID:23449725

Managutti, Sunita; Managutti, Anil; Pragasm, Michael



Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients  

Microsoft Academic Search

Infantile malignant osteopetrosis (IMO) (OMIM 259700) is a lethal autosomal recessive disease. The underlying gene in most\\u000a IMO patients is TCIRG1. This codes for the TCIRG1 protein involved in the cellular proton pump, which is highly expressed on surfaces of osteoclasts.\\u000a We have characterized a family comprising two affected siblings born to healthy parents. The sister and her younger brother

Ping Yuan; Zhihui Yue; Liangzhong Sun; Weijun Huang; Bin Hu; Zhiyun Yang; Yuelin Hu; Hua Xiao; Hui Shi; Qing Zhou; Yiming Wang



Lentiviral gene transfer of TCIRG1 into peripheral blood CD34(+) cells restores osteoclast function in infantile malignant osteopetrosis.  


Infantile malignant osteopetrosis (IMO) is a rare, lethal, autosomal recessive disorder characterized by non-functional osteoclasts. More than 50% of the patients have mutations in the TCIRG1 gene, encoding for a subunit of the osteoclast proton pump. The aim of this study was to restore the resorptive function of IMO osteoclasts by lentiviral mediated gene transfer of the TCIRG1 cDNA. CD34(+) cells from peripheral blood of five IMO patients and from normal cord blood were transduced with lentiviral vectors expressing TCIRG1 and GFP under a SFFV promoter, expanded in culture and differentiated on bone slices to mature osteoclasts. qPCR analysis and western blot revealed increased mRNA and protein levels of TCIRG1, comparable to controls. Vector corrected IMO osteoclasts generated increased release of Ca(2+) and bone degradation product CTX-I into the media as well as increased formation of resorption pits in the bone slices, while non-corrected IMO osteoclasts failed to resorb bone. Resorption was approximately 70-80% of that of osteoclasts generated from cord blood. Furthermore, transduced CD34(+) cells successfully engrafted in NSG-mice. In conclusion we provide the first evidence of lentiviral-mediated correction of a human genetic disease affecting the osteoclastic lineage. PMID:23907031

Moscatelli, Ilana; Thudium, Christian Schneider; Flores, Carmen; Schulz, Ansgar; Askmyr, Maria; Gudmann, Natasja Stæhr; Andersen, Nanna Merete; Porras, Oscar; Karsdal, Morten Asser; Villa, Anna; Fasth, Anders; Henriksen, Kim; Richter, Johan



Lectin histochemistry of infantile lysosomal storage disease associated with osteopetrosis.  


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, Lens culinaris agglutinin, Ricinus communis agglutinin-I, succinylated wheat germ agglutinin and wheat germ agglutinin, indicating an accumulation of fucosylated N-glycosidically linked oligosaccharides containing beta- and alpha-galactosyl residues and compounds containing N-acetyllactosamine. Reticuloendothelial cells in liver and in spleen did not stain with LFB, but did stain with PAS and the above lectins. These results indicate that there is storage of both carbohydrates and lipids in neurons, and stored carbohydrates with similar residues in reticuloendothelial cells in this disease, where the primary defect is still unknown. PMID:8091952

Alroy, J; Castagnaro, M; Skutelsky, E; Lomakina, I



Stem cell transplantation in children with infantile osteopetrosis is associated with a high incidence of VOD, which could be prevented with defibrotide  

Microsoft Academic Search

Malignant infantile osteopetrosis (MIOP) is a rare hereditary disorder of osteoclast function, which can be reversed by hematopoietic stem cell transplantation (SCT). We observed a high incidence of hepatic veno-occlusive disease (VOD) in transplanted patients and explored the prevention of this complication by using defibrotide (DF) as a prophylaxis. Twenty children with MIOP were consecutively transplanted in our center between

S Corbacioglu; M Hönig; G Lahr; S Stöhr; G Berry; W Friedrich; A S Schulz





Osteopetrosis is a rare disease that occurs when a child has an unequal balance between new bone growth and elimination of old bone. Children with this entity are able to make new bone tissue, but are not able to break down and eliminate old bones, which is essential for normal bone growth. These thickened and enlarged bones are very weak. These children can exhibit: failure to thrive, macrocephaly, anemia, deafness, and blindness. We will present a case of osteopetrosis, esotropia, and amblyopia of a 7-year-old boy and will discuss the pathophysiology and treatment. PMID:24141761

Jenkins, Patricia F; Prieto, Pilar; Tang, Rosa A; Yousefi, Sharin



Infantile osteopetrosis, craniosynostosis, and Chiari malformation type I with novel OSTEM1 mutation  

PubMed Central

We report a case of a 9-month-old Arab infant, with novel OSTEM mutation and unpublished triad of osteopetrosis (OP), craniosynostosis (CS), and Chiari malformation type I (CM1). The index presented with progressive irritability, abnormal movements, following an accidental fall. The history revealed early onset of irritability, progressive visual loss, and global developmental delay, more prominent at the gross motor level and a suspected congenital cytomegalovirus infection. The pregnancy was uneventful with subsequent unremarkable delivery. The parents are Arabs?first cousins with no apparent symptoms or signs of bone disease. Three dimensional brain computed tomography (CT) showed ventriculomegaly, thick calvaria, and CS of the coronal and sagittal sutures. Patient had signs of left lower motor neuron facial palsy, and CT of petrous bones confirms the presence of osteopetrotic petrous with slim mastoid portions of the facial nerve canals both sides. Brain magnetic resonance imaging showed CM1. Skeletal survey showed sclerotic skeleton. He needed ventriculoperitoneal shunt and died at 18 months of age. Molecular testing for OSTEM1 gene revealed novel homozygous mutation that segregated from his parents. This novel OSTEM1 gene novel mutation and the combination of OP, infantile CS, and CM1 is to our knowledge never been reported.

Mahmoud Adel, A. H.; Abdullah, A. Al Jabri; Eissa, Faqeih



Stem cell transplantation in children with infantile osteopetrosis is associated with a high incidence of VOD, which could be prevented with defibrotide.  


Malignant infantile osteopetrosis (MIOP) is a rare hereditary disorder of osteoclast function, which can be reversed by hematopoietic stem cell transplantation (SCT). We observed a high incidence of hepatic veno-occlusive disease (VOD) in transplanted patients and explored the prevention of this complication by using defibrotide (DF) as a prophylaxis. Twenty children with MIOP were consecutively transplanted in our center between 1996 and 2005. Eleven of these patients were transplanted between 1996 and 2001 and experienced an overall incidence of VOD of 63.6% (7/11). VOD was severe in three patients and one patient succumbed to VOD-related multi-organ failure. Owing to this very high incidence of VOD, DF prophylaxis was initiated in nine patients consecutively transplanted between 2001 and 2005. In this group, only one patient (11.1%) was diagnosed with moderate VOD. We report here a very high risk in patients with MIOP to develop VOD after transplantation. Prophylactic DF was implemented in our current transplant protocol and reduced the VOD rate significantly in this high-risk population. PMID:16953210

Corbacioglu, S; Hönig, M; Lahr, G; Stöhr, S; Berry, G; Friedrich, W; Schulz, A S



Importance of neurological assessment before bone marrow transplantation for osteopetrosis  

PubMed Central

Neurological complications of malignant infantile osteopetrosis are well recognised; successful bone marrow transplantation, when performed early in life, can prevent or halt some of them. In a subgroup of infants osteopetrosis is associated with primary retinal degeneration and/or generalised neurodegeneration. Bone marrow transplantation, in spite of being successful in correcting the osseous and haematological abnormalities, does not influence the progressive course of the neurodegenerative disorder. Thus, the recognition of this subgroup of infants with a very poor prognosis is essential before deciding on bone marrow transplantation.??

Abinun, M; Newson, T; Rowe, P; Flood, T; Cant, A



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

PubMed Central

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

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



The Therapy of Infantile Malignant Brain Tumors: Current Status?  

Microsoft Academic Search

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

Chantal Kalifa; Jacques Grill



Rescue of ATPa3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation in utero  

PubMed Central

Autosomal recessive osteopetrosis (ARO) is a paradigm for genetic diseases that cause severe, often irreversible, defects before birth. In ARO, osteoclasts cannot remove mineralized cartilage, bone marrow is severely reduced, and bone cannot be remodeled for growth. More than 50% of the patients show defects in the osteoclastic vacuolar-proton-pump subunit, ATP6a3. We treated ATP6a3-deficient mice by in utero heterologous hematopoietic stem cell (HSC) transplant from outbred GFP transgenic mice. Dramatic phenotype rescue by GFP osteoclasts was obtained with engraftment, which was observed in most cases. Engraftment survived for variable periods. Recipients were not immunosuppressed, and graft-versus-host disease was not observed in all pups born after in utero treatment. Thus, differentiation of unmatched HSC transplanted in utero is sufficient to prevent fatal defects in ARO and may prevent complications of ARO unresponsive to conventional bone marrow transplantation. The presence of defective cells is not a barrier to the rescue of the phenotype by donor HSC.

Frattini, Annalisa; Blair, Harry C.; Sacco, Maria Grazia; Cerisoli, Francesco; Faggioli, Francesca; Cato, Enrica Mira; Pangrazio, Alessandra; Musio, Antonio; Rucci, Francesca; Sobacchi, Cristina; Sharrow, Allison C.; Kalla, Sara E.; Bruzzone, Maria Grazia; Colombo, Roberto; Magli, Maria Cristina; Vezzoni, Paolo; Villa, Anna



Malignant transformation of a desmoplastic infantile ganglioglioma.  


We describe a rare case of desmoplastic infantile ganglioglioma that appears to have transformed into a glioblastoma multiforme tumor in a 5-year-old girl. The patient was initially treated with total removal of the tumor, without subsequent radiation therapy or chemotherapy. She was in good health for 3 years, but manifested a sudden onset of seizures, followed by severe headache, vomiting, and left-sided weakness. Cranial magnetic resonance imaging revealed a large mass with rim enhancement at the previously operated site. The mass was completely removed, and the pathology report revealed glioblastoma multiforme. Postoperative chemotherapy and radiation treatment were administered. She has been followed for 11 years, and is alive without recurrence. PMID:21763958

Loh, Joon-Khim; Lieu, Ann-Shung; Chai, Chee-Yin; Howng, Shen-Long



Oral aspects of osteopetrosis.  


The characteristic feature of osteopetrosis is a lack of osteoclastic activity, leading to a series of somatic problems for afflicted persons. The life span of osteopetrotic patients has increased in recent years, thereby making oral aspects of the disease more evident. Four children with malignant osteopetrosis, born between 1967 and 1975, were examined. In all patients the anterior teeth were of normal shape, and erupted on schedule. Primary molars and all permanent teeth were greatly distorted, and remained totally or partly embedded in basal bone. Vertical growth of alveolar ridge was very limited. Where a fenestration of overlaying mucosa had occurred, a localized progressive osteitis developed, leading to soft tissue inflammation and, in two cases, extraoral mandibular fistulas. Peridontal attachment was very poor, spontaneous exfoliation had occurred in all patients. In two children tooth germs and necrotic bone were surgically removed. No beneficial effect of the treatment was observed. Large doses of antibiotics were needed to control recurring infections. No means of curing progressive osseous destruction of mandibular bone has been found. The general prognosis is poor. PMID:295483

Bjorvatn, K; Gilhuus-Moe, O; Aarskog, D



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

PubMed Central

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

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



Post operative diagnosis of osteopetrosis.  


Osteopetrosis is a rare hereditary disease that was first described by a German Albert Schonberg in 1904. At least five types of osteopetrosis have been described. Among them osteopetrosis congenita (autosomal recessive) and osteopetrosis tarda (autosomal dominant) are most common. Here we are reporting a case of osteopetrosis tarda, who is a female of fifty years of age presented with fracture femur. Preoperatively there was no suspicion of osteopetrosis. She was only suspected while introducing an IM Nail during her fracture reduction. Diagnosis of osteopetrosis was confirmed post operatively by histopathology of medullary cavity of her femur. PMID:15284702

Hossain, M B; Ahmed, M U; Chowdhury, T S



Rheumatoid arthritis associated with osteopetrosis  

Microsoft Academic Search

Osteopetrosis is an inherited disorder characterized by reduced bone resorption. We here report a rare case of osteopetrosis\\u000a associated with rheumatoid arthritis. The patient was diagnosed as autosomal dominant osteopetrosis type II in his youth and\\u000a developed rheumatoid arthritis at 42 years of age. In spite of the severe inflammation and rapid progression of cartilage\\u000a destruction, the progression of bone erosion

Yuho Kadono; Sakae Tanaka; Jinju Nishino; Keita Nishimura; Ichiro Nakamura; Tsuyoshi Miyazaki; Hiroshi Takayanagi; Kozo Nakamura



Osteopetrosis-A rare entity with osteomyelitis.  


Osteopetrosis is a rare genetic disorder that causes generalized sclerosis of the bone due to defect in bone resorption and remodeling. Albergs-Schonberg disease or autosomal dominant osteopetrosis type II is a rare form of osteopetrosis. Osteomyelitis is a well-documented complication of osteopetrosis. Any associated dental abnormality may be attributed to the pathological changes in bone remodeling. This case report discusses a case of osteopetrosis with osteomyelitis as a complication in a 8-year-old boy. PMID:23482851

Bedi, R S; Goel, Poonam; Pasricha, Navbir; Sachin; Goel, Ashish



Osteopetrosis-A rare entity with osteomyelitis  

PubMed Central

Osteopetrosis is a rare genetic disorder that causes generalized sclerosis of the bone due to defect in bone resorption and remodeling. Albergs-Schonberg disease or autosomal dominant osteopetrosis type II is a rare form of osteopetrosis. Osteomyelitis is a well-documented complication of osteopetrosis. Any associated dental abnormality may be attributed to the pathological changes in bone remodeling. This case report discusses a case of osteopetrosis with osteomyelitis as a complication in a 8-year-old boy.

Bedi, R. S.; Goel, Poonam; Pasricha, Navbir; Sachin; Goel, Ashish



Pathogenesis of Osteoscierosis in Autosomal Dominant Osteopetrosis  

Microsoft Academic Search

OBJECTIVE. The purpose of this study was to determine if the generalized osteosclerosis seen on skeletal radiographs of patients with osteopetrosis is associated with an increase in bone density. SUBJECTS AND METHODS. Five children (three girls. two boys, 6-12 years old) with autosomal dominant osteopetrosis who had sustained a fracture with minimal trauma had the density and area of cortical

Arzu Kovanlikaya; M. LuizaLoro; Vicente Gilsanz


Osteopetrosis: a single centre experience of stem cell transplantation and prenatal diagnosis  

Microsoft Academic Search

Malignant osteopetrosis (MOP) is an autosomal recessive disease in which osteoclast dysfunction results in excessive bone deposition and early infant death. Thirteen children suffering from MOP from four related families all belonging to one Bedouin tribe, were studied. The disease was diagnosed as early as at a few days postnatal to 5 months. Nine children underwent BMT, four of whom

J Kapelushnik; C Shalev; I Yaniv; M Aker; R Carmi; Z Cohen; A Mozer; C Schulman; G Stein




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.

Pearce, Louise



Desmoplastic infantile astrocytoma: recurrence with malignant transformation into glioblastoma: a case report.  


Desmoplastic infantile astrocytoma (DIA) is an uncommon brain tumor of early infancy. The tumor is characterized by a lobar location, glial histology, and excellent prognosis after surgical removal. DIA and a similar tumor, desmoplastic infantile ganglioglioma (DIG) have been considered to be benign neoplasms, but the prognosis of DIA and DIG is currently under question as atypical and aggressive clinical features of the tumors have been reported. We encountered a patient who was diagnosed with DIA at the age of 22 months and exhibited tumor recurrence 8 years later. Surgical removal of the recurred tumor revealed that the tumor had transformed to overt glioblastoma. This case demonstrates that DIA is not an absolutely benign tumor and that careful clinical surveillance is needed during the follow-up period. PMID:21947035

Phi, Ji Hoon; Koh, Eun Jung; Kim, Seung-Ki; Park, Sung-Hye; Cho, Byung-Kyu; Wang, Kyu-Chang



Osteopetrosis: from Animal Models to Human Conditions  

Microsoft Academic Search

The term “osteopetrosis” is applied to a group of disorders characterized by an increased bone density, due to an inadequate\\u000a bone resorption. A considerable part of our current knowledge on osteoclast biology is based on the study of osteopetrotic\\u000a animal models. The search for mutations in these animals has unveiled many molecular mechanisms underlying osteoclast differentiation\\u000a and functioning. It also

Bram Perdu; Wim Van Hul; Liesbeth Van Wesenbeeck



Osteopetrosis with Chiari I malformation: presentation and surgical management.  


Osteopetrosis is a heterogeneous group of rare, inherited disorders of the skeleton that results in neurological manifestations due to restriction of growth of cranial foramina and calvarial thickening. A 25-year-old woman with a history of autosomal dominant osteopetrosis presented to the authors' institution with headache worsened by exertion and radiating from the occipital region forward with episodes of choking/coughing when eating and a loss of gag reflex on physical examination. On MR imaging, she was found to have severe posterior fossa calvarial thickening resulting in a small posterior fossa and tonsillar ectopia of 9 mm and compression and deformation of the brainstem. She underwent posterior fossa craniectomy, foramen magnum decompression, and partial C-1 laminectomy with external durotomy. The patient did well postoperatively with resolution of symptoms. This case describes a new neurological manifestation of autosomal dominant osteopetrosis. To the authors' knowledge, this report represents the first described case of extreme posterior fossa calvarial thickening from autosomal dominant osteopetrosis with associated Chiari I malformation (CM-I) requiring posterior fossa decompression and extradural decompression. Given previously published MR imaging data that demonstrate the association of osteopetrosis and CM may be more common than in this case alone, the authors discuss the need for further investigation of the incidence of CM-I in patients with autosomal dominant osteopetrosis. Additionally, they review osteopetrosis and other diagnoses of calvarial hyperostosis presenting as CM-I. PMID:21456907

Dlouhy, Brian J; Menezes, Arnold H



A case of autosomal dominant osteopetrosis type II with a novel TCIRG1 gene mutation.  


Osteopetrosis is a rare genetic disorder characterized by increased bone mineral density (BMD) due to osteoclast failure. T-cell immune regulator 1 (TCIRG1) plays crucial roles on osteoclast function, and its mutation causes autosomal recessive osteopetorosis. However, mutations in TCIRG1 have never been identified in autosomal dominant osteopetrosis (ADO). A 3-year-old boy was first presented to the clinic because of spontaneous radius and femur fractures. He has optic atrophy. The areal BMD at the lumbar spine was 1274 g/cm2 (233% of normal). Laboratory tests revealed no remarkable abnormal findings, including anemia, except for extremely elevated serum tartrate-resistant acid phosphatase-5b (14,600 mU/dL). Radiographically, the skull base, pelvis, and vertebrae showed a focal sclerosis. Genetic analysis revealed a novel de novo heterozygous missense mutation (His242Arg). Taken together with the mutation, his mild clinical features were diagnosed as ADO. This case implies that TCIRG1 could become a genetic candidate for ADO in addition to malignant forms such as ARO. PMID:23412864

Wada, Keiko; Harada, Daisuke; Michigami, Toshimi; Tachikawa, Kanako; Nakano, Yukako; Kashiwagi, Hiroko; Yamashita, Sumie; Sano, Tetsuya; Seino, Yoshiki



Oligodontia associated with osteopetrosis: a rare case report.  


Osteopetrosis is a descriptive term that refers to a group of rare hereditary disorders of the skeleton characterized by increased density of the bones. It was first described in 1904 by Albers-Schonberg, a German radiologist. This disease varies greatly in its presentation and severity ranging from neonatal onset with life threatening conditions such as bone marrow failure to incidental finding of osteopetrosis on radiographs. Dental abnormality may be attributed to pathological changes in the bone. Dentists should be aware of patients with the disease because of its effect on osteoclast function which results in impaired wound healing. This paper presents the case of a five-year-old girl exhibiting oligodontia associated with osteopetrosis. PMID:22041010

Vinay, C; Uloopi, K S; Rao, R Chandrasekhar; Kumar, R Santosh; Madhuri, V


Chronic low back pain caused by osteopetrosis type 2.  


Causes for low back pain usually involve damages in bone, muscle or nerve tissues of spine. Hereditary sclerosing bone disorders are rarely presented with low back pain. This report is intended to remind that osteopetrosis type 2, which is a rare disorder in differential diagnosis of low back pain, should be taken into consideration. PMID:22837026

Durmus, Oguz; Cakar, Engin; Ata, Emre; Dincer, Umit; Kiralp, Mehmet Zeki



Conditions masquerading as infantile haemangioma: Part 2.  


Infantile haemangiomas are among the most common growths during infancy. Their rapid growth during infancy and vascularity can easily cause confusion with other, less common growths. Part I focussed on other vascular anomalies that can mimic infantile haemangiomas. Part II emphasizes benign growths and malignant conditions that can also cause diagnostic confusion. PMID:19659975

Frieden, Ilona J; Rogers, Maureen; Garzon, Maria C



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


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

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



Infantile colic.  


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

Kanabar, Dipak



Dental management in autosomal recessive (intermediate) osteopetrosis: a case report.  


Osteopetrosis (Albers-Schonberg disease) is the name given to a group of diseases that affect the growth and remodeling of bones. It is characterized by overgrowth and sclerosis of bone, resulting in thickening and narrowing of the marrow cavities throughout the skeleton. The exact cause is unknown, although failure of bone resorption related to defective osteoclasts is considered to be the basis of the problem. These patients present a significant challenge to the dentist for management of jaw and dental problems, as the disease process demands special strategies which are often at variance with conventional dentistry. The purpose of this paper was to report the management and follow-up of a child with intermediate autosomal recessive osteopetrosis who primarily complained of dental problems. PMID:21462770

Bansal, Vishal; Kumar, Sanjeev; Arunkumar, K V; Mowar, Apoorva; Khare, Gagan


Infantile botulism.  


We present the first two known cases of infantile botulism in Oklahoma. The first case was due to type B toxin; the second was due to type A toxin. Both cases demonstrate most of the classic features of what now appears to be the most common form of botulism. Infantile botulism is an underrecognized but reversible cause of hypotonia. In most cases, the prognosis is excellent with institution of appropriate supportive care. The recognition of cranial nerve palsies or a history of constipation should raise the suspicion of infantile botulism. Aminoglycoside antibiotics and other agents that may precipitate or exacerbate neuromuscular blockade should be used with extreme caution in hypotonic infants until the cause of the hypotonia is clearly identified. PMID:3358170

Gay, C T; Marks, W A; Riley, H D; Bodensteiner, J B; Hamza, M; Noorani, P A; Bobele, G B



Infantile botulism  

Microsoft Academic Search

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

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



Mérycisme infantile  

Microsoft Academic Search

Infantile rumination can be defined as self-induced regurgitation of previously swallowed food. Because it can lead to potential somatic complications and because it implies dysfunctional mother-child bonding, both a pediatric and psychiatric approach is needed. The treatment must be somatic (nutritional) and psychological (intensive nursing, mother-baby psychotherapy). Two case studies illustrate this rare but impressive picture.

B. Thouvenin; B. Forgeot d'Arc; G. Baujat; V. Brousse; V. Abadie



Infantile Spasms  


... has been approved by the U.S. Food and Drug Administration to treat infantile spasms in children ages one month to two years. Some children have spasms as the result of brain lesions, and surgical removal of these lesions may ...


Infantile Fibrosarcoma.  

National Technical Information Service (NTIS)

The pathologic features and the behavior of 53 cases of infantile fibrosarcoma are presented. The tumor nearly always occurred during the first 2 years of life; 41 of the 53 cases occurred during the first, 6 during the second, and 3 each during the third...

E. B. Chung F. M. Enzinger



Infantile cataracts  

Microsoft Academic Search

Cataracts are one of the most treatable causes of visual impairment during infancy. Recentepidemiological studies have shown that they have a prevalence of 1.2 to 6.0 cases per 10,000 infants. The morphology of infantile cataracts can be helpful in establishing their etiology and prognosis. Early surgery and optical correction have resulted in an improved outcome for infants with either unilateral

Scott R. Lambert; Arlene V. Drack



Infantile encephalopathies.  


Many cases of drug-resistant infantile epilepsy (West syndrome, Lennox-Gastaut syndrome, Landau-Kleffner syndrome, severe myoclonic epilepsy, and Rasmussen's encephalitis) were found to respond in some measure to treatments with intravenous immunoglobulins (IVIG), but relapses were common. However, as the side effects of IVIG infusion are insignificant, it is better not to deny treatment of epileptic encephalopathies to patients who have been treated unsuccessfully even with new anti-epileptic drugs. PMID:14598052

Cavazzuti, G B



Case Reports: Treatment of Subtrochanteric and Ipsilateral Femoral Neck Fractures in an Adult with Osteopetrosis  

PubMed Central

We describe a patient with autosomal-dominant osteopetrosis, a subtrochanteric fracture, and an ipsilateral femoral neck fracture treated with a hip spica cast Although the fracture united with coxa vara and external rotation deformities, the patient successfully returned to his normal activities of daily living. Operative fracture treatment in patients with osteopetrosis is difficult, and our patient provides evidence that with nonoperative treatment these patients can return to a functional level when operative treatment is not an option.

Mchale, Kathleen A.



[Osteopetrosis with carbonic anhydrase II deficiency: report of 24 cases].  


Twenty four patients suffering from osteopetrosis caused by carbonic anhydrase II deficiency are colliged. This pathology seems to be frequent in Tunisia. Mental retardation is present in 52%, 85% of patients have short stature and 25% have optic atrophy. All affected subjects show craniofacial disproportion and dental anomalies. Twenty patients have at least one bone fracture. Metabolic acidosis is constant: it is profound during the first life decade. A severe selective reduction of carbonic anhydrase II in erythrocyte is confirmed in 18 cases. Osteosclerosis and defective skeletal modelling are constant, cerebral calcification can be seen at the scanner approximately at the age of two years and six months. All patients are homozygous for a splice junction mutation in intron 2 of the carbonic anhydrase II gene, this mutation does not seem to protect patients from bone fractures nor induce a severe metabolic acidosis. PMID:16220698

Sonia, Halioui-Louhaichi; Mohamed, Fraj; Mohamed, Bejaoui; Rafika, Alouini; Dehmani, Fathallah; Kossay, Dallagi; Azza, Hammou




PubMed Central

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



Infantile fibrosarcoma of thigh--a case report.  


Infantile fibrosarcoma is a rare soft tissue malignant tumor, when it occurs, it is usually seen in the first year of life. The clinical course of infantile fibrosarcoma is more favorable and metastasis is rare compared with that in adulthood. While adult fibrosarcoma are common in the thigh, infantile fibrosarcoma affect chiefly the distal portions of the extremities. Standard treatment is primarily wide surgical excision. In this case report, we present our experience of an infantile fibrosarcoma of thigh with good clinical course 36 months after tumor resection and the usefulness of detecting the ETV6-NTRK3 gene fusion in differential diagnosis. PMID:15801689

Himori, Ko; Hatori, Masahito; Watanabe, Mika; Moriya, Takuya; Ogose, Akira; Hashimoto, Hiroshi; Kokubun, Shoichi



An ultrastructural study of infantile fibrosarcoma of the mandible  

Microsoft Academic Search

A rare case of infantile fibrosarcoma in a mandible was investigated by light and electron microscopic observation. The usual\\u000a features of malignancy may not accurately predict malignant behavior in infantile fibrosarcoma. We investigated the correlation\\u000a between the clinical- and the morphological features of the tumor. All tumor tissues were highly cellular, and the tumor cells\\u000a were often arranged in a

Nobuyuki Tanaka; Kuo-Jeng Hsieh; Yutaka Kimijima; Masafumi Mimura; Takao Miyamoto; Kodo Sasaki; Teruo Amagasa; Shizuko Ichinose



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


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

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



Osteopetrosis, hypophosphatemia, and phosphaturia in a young man: a case presentation and differential diagnosis.  


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

Mitri, Zahi; Tangpricha, Vin



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

PubMed Central

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

Mitri, Zahi; Tangpricha, Vin



Myofibroblastic malignancies.  


Malignant tumors composed of myofibroblasts are increasingly being recognized, but their existence remains controversial. Currently accepted examples within this category represent spindle cell or pleomorphic neoplasms of the soft tissues with a spectrum of histological grades. Low- and intermediate-grade myofibrosarcomas are fascicular spindle cell neoplasms resembling fibrosarcoma or leiomyosarcoma. They infiltrate deep soft tissue with disproportionate involvement of head and neck sites and can recur locally but infrequently metastasize. They variably express myoid immunohistochemical markers, and their differential diagnosis includes benign myofibroblastic proliferations such as fasciitis and fibromatosis as well as other types of spindle cell sarcoma. High-grade (pleomorphic) myofibrosarcomas are an ultrastructurally defined subset of malignant fibrous histiocytoma, which they resemble in morphology and behavior. Inflammatory myofibroblastic tumor and infantile fibrosarcoma are neoplasms that have myofibroblastic features and have been included in this category, but they have distinctive genetic findings. This article reviews the concept of myofibrosarcoma and describes its variants. PMID:15220822

Fisher, Cyril



Cortical bone remodeling in autosomal dominant osteopetrosis: A study of two different phenotypes  

Microsoft Academic Search

Previous analyses of cancellous bone remodeling in autosomal dominant osteopetrosis (ADO) have suggested a diminished osteoclastic resorption at the endocortical surface. Consequently, cortical width increases with age in both ADO type I and II. By means of histomorphometric methods, the remodeling cycle of the Haversian surface in the iliac crest has recently been reconstructed in normal individuals. The aim of

H. Brockstedt; J. Bollerslev; F. Melsen; L. Mosekilde



Congenital infantile fibrosarcoma: a masquerader of ulcerated hemangioma.  


Congenital infantile fibrosarcoma, a rare malignant tumor of childhood, may present as a highly vascularized mass that is clinically difficult to distinguish from a hemangioma. When ulcerated, significant hemorrhage, anemia, and thrombocytopenia may occur in children with these lesions. This report describes three infants with ulcerated congenital infantile fibrosarcomas of the hand. As appropriate medical and surgical management hinges on timely and appropriate diagnosis, we review the clinical manifestations of these lesions. PMID:16918626

Yan, Albert C; Chamlin, Sarah L; Liang, Marilyn G; Hoffman, Benjamin; Attiyeh, Edward F; Chang, Benjamin; Honig, Paul J


[Recurrent and metastatic infantile fibrosarcoma: a case report].  


Infantile fibrosarcoma is a rare malignant tumor that usually occurs during the 1st year of life. It accounts for approximately 5-10% of all sarcomas in infants younger than 1 year of age. It usually has indolent progression and metastatic spread is rare. We report the case of a patient who had infantile fibrosarcoma of the trunk. At birth, the baby presented a soft tissue mass of the scapulothoracic region. Histopathological examination after complete surgical resection at first suggested an angioma. Reanalysis of the histology after a metastatic relapse resulted in the diagnosis of infantile fibrosarcoma, which was confirmed by the presence of the specific translocation seen in infantile fibrosarcoma (ETV6/NTRK3). This patient's progression was uncommon because he developed 3 metastatic relapses. The treatment consisted of surgery, chemotherapy, and radiation therapy. The patient is alive with persistent complete remission. We discuss the diagnostic and therapeutic issues of infantile fibrosarcoma. There is a risk of erroneous diagnosis in newborn infants between benign angiomatous tumor and infantile fibrosarcoma. The fusion transcript ETV6-NTRK3 resulting from the specific chromosomal translocation t(12;15)(p13;q25) is now a useful diagnostic tool for infantile fibrosarcoma. Surgery with wide resection is the mainstay of treatment. However, infantile fibrosarcoma is a chemosensitive tumor. If initial surgery cannot be done without mutilation or is impossible, preoperative chemotherapy should be given. The role of radiation therapy is still debated. PMID:21084177

Lagree, M; Toutain, F; Revillon, Y; Gaussin, G; Marie-Cardine, A; Lemoine, F; Vannier, J-P



[Chronic osteomyelitis of the ilium after autologous bone harvesting in Albers-Schonberg osteopetrosis. A case report].  


We report the treatment of chronic osteomyelitis of the iliac wing after autologous bone harvesting in a 17-year old boy with osteopetrosis. A partial resection of the iliac wing was performed followed by systemic antibiotic treatment. The wound healing was without complications. We consider autologous bone harvesting in patients with osteopetrosis to be a critical procedure due to the higher risk of infection. PMID:11446071

Muschik, M; Labs, K



Vasculogenesis in infantile hemangioma  

Microsoft Academic Search

Infantile hemangioma is a vascular tumor that occurs in 5–10% of infants of European descent. A defining feature of infantile\\u000a hemangioma is the dramatic growth and development into a disorganized mass of blood vessels. Subsequently, a slow spontaneous\\u000a involution begins around 1 year of age and continues for 4–6 years. The growth and involution of infantile hemangioma is very\\u000a different from other

Elisa Boscolo; Joyce Bischoff



Infantile fibrosarcoma: radiological and clinical features  

Microsoft Academic Search

Two cases of infantile fibrosarcoma are described. This rare childhood malignancy of mesodermal origin usually affects the\\u000a lower limbs, as it did in both of our cases. Previously, the only treatment option available involved some form of radical\\u000a and often mutilating surgery. More recently, combination chemotherapy has given good results, with the effect that various\\u000a imaging modalities have become important

S. J. Vinnicombe; C. M. Hall



Successful staged hip replacement in septic hip osteoarthritis in osteopetrosis: a case report  

PubMed Central

Background Osteopetrosis is a rare, inherited, bone disorder, characterized by osteosclerosis, obliteration of the medullary cavity and calcified cartilage. The autosomal dominant form is compatible with a normal life span, although fractures often result from minimal trauma, due to the pathologic nature of bone. Osteomyelitis is common in patients with osteopetrosis because of a reduced resistance to infection, attributed to the lack of marrow vascularity and impairment of white cell function. Only one case of osteomyelitis of the proximal third of the femur has been previously reported, treated with several repeated debridements and finally with femoral head resection. Here we present for the first time a case of a staged implant of a cementless total hip prosthesis for the treatment of a septic hip in femoral neck nonunion in osteopetrosis. Case presentation A 36-years-old woman, affected by autosomal dominant osteopetrosis was referred to our department because of a septic hip arthritis associated with femoral neck septic non-union, with draining fistulas. The infection occurred early after a plate osteosynthesis for a closed perthrocanteric fracture of the femur and persisted in spite of osteosynthesis removal, surgical debridement and external fixation. In our hospital the patient underwent accurate debridement, femoral head and greater trochanter resection, preparation of the diaphyseal intramedullary canal and implant of an antibiotic-loaded cement spacer. The spacer was exchanged after one month, due to infection recurrence and four months later, a cementless total hip arthroplasty was implanted, with no clinical and laboratory signs of infection recurrence at two years follow-up. Conclusions In case of hip septic arthritis and proximal femur septic non-union, femoral head resection may not be the only option available and staged total hip arthroplasty can be considered.



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



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

PubMed Central

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

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



Primary colonic congenital infantile fibrosarcoma presenting as meconium peritonitis  

Microsoft Academic Search

Congenital infantile fibrosarcoma is a rare soft tissue malignancy that occurs in both axial and extremity locations. We report\\u000a a case of this tumor arising from the left colon in a newborn presenting with an intrauterine perforation and meconium peritonitis.

Saleem Islam; Oliver S. Soldes; Robert Ruiz; James D. Geiger



Primary colonic congenital infantile fibrosarcoma presenting as meconium peritonitis.  


Congenital infantile fibrosarcoma is a rare soft tissue malignancy that occurs in both axial and extremity locations. We report a case of this tumor arising from the left colon in a newborn presenting with an intrauterine perforation and meconium peritonitis. PMID:18247031

Islam, Saleem; Soldes, Oliver S; Ruiz, Robert; Geiger, James D



[Histogenesis of infantile fibrosarcoma].  


Eight cases of infantile deep soft tissue fibrosarcoma were examined. The tumor consists of neoplastic fibroblasts and myofibroblasts which differ from each other ultrastructurally. Well-differentiated collagen-forming neoplastic fibroblasts form one-half of infantile fibrosarcoma. Immunohistochemically and ultrastructurally immature embryonic-like fibroblasts were also identified. The latter closely resemble an embryonic perichondrial fibroblast of the embryonic limb during 6 weeks of development. PMID:19514351

Blizniukov, O P; Perevoshchikov, A G; Poliakov, V G


Vasculogenesis in Infantile Hemangioma  

PubMed Central

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

Boscolo, Elisa; Bischoff, Joyce



Vasculogenesis in infantile hemangioma.  


Infantile hemangioma is a vascular tumor that occurs in 5-10% of infants of European descent. A defining feature of infantile hemangioma is the dramatic growth and development into a disorganized mass of blood vessels. Subsequently, a slow spontaneous involution begins around 1 year of age and continues for 4-6 years. The growth and involution of infantile hemangioma is very different from other vascular tumors and vascular malformations, which do not regress and can occur at any time during childhood or adult life. Much has been learned from careful study of the tissue morphology and gene expression patterns during the life-cycle of hemangioma. Tissue explants and tumor-derived cell populations have provided further insight to unravel the cellular and molecular basis of infantile hemangioma. A multipotent progenitor cell capable of de novo blood vessel formation has been isolated from infantile hemangioma, which suggests that this common tumor of infancy, long considered to be a model for pathologic angiogenesis, may also represent pathologic vasculogenesis. Whether viewed as angiogenesis or vasculogenesis, infantile hemangioma represents a vascular perturbation during a critical period of post-natal growth, and as such provides a unique opportunity to decipher mechanisms of human vascular development. PMID:19430954

Boscolo, Elisa; Bischoff, Joyce



SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.  


Human Autosomal Recessive Osteopetrosis (ARO) is a genetically heterogeneous disorder caused by reduced bone resorption by osteoclasts. In 2000, we found that mutations in the TCIRG1 gene encoding for a subunit of the proton pump (V-ATPase) are responsible for more than one-half of ARO cases. Since then, five additional genes have been demonstrated to be involved in the pathogenesis of the disease, leaving approximately 25% of cases that could not be associated with a genotype. Very recently, a mutation in the sorting nexin 10 (SNX10) gene, whose product is suggested to interact with the proton pump, has been found in 3 consanguineous families of Palestinian origin, thus adding a new candidate gene in patients not previously classified. Here we report the identification of 9 novel mutations in this gene in 14 ARO patients from 12 unrelated families of different geographic origin. Interestingly, we define the molecular defect in three cases of "Västerbottenian osteopetrosis," named for the Swedish Province where a higher incidence of the disease has been reported. In our cohort of more than 310 patients from all over the world, SNX10-dependent ARO constitutes 4% of the cases, with a frequency comparable to the receptor activator of NF-?B ligand (RANKL), receptor activator of NF-?B (RANK) and osteopetrosis-associated transmembrane protein 1 (OSTM1)-dependent subsets. Although the clinical presentation is relatively variable in severity, bone seems to be the only affected tissue and the defect can be almost completely rescued by hematopoietic stem cell transplantation (HSCT). These results confirm the involvement of the SNX10 gene in human ARO and identify a new subset with a relatively favorable prognosis as compared to TCIRG1-dependent cases. Further analyses will help to better understand the role of SNX10 in osteoclast physiology and verify whether this protein might be considered a new target for selective antiresorptive therapies. PMID:23280965

Pangrazio, Alessandra; Fasth, Anders; Sbardellati, Andrea; Orchard, Paul J; Kasow, Kimberly A; Raza, Jamal; Albayrak, Canan; Albayrak, Davut; Vanakker, Olivier M; De Moerloose, Barbara; Vellodi, Ashok; Notarangelo, Luigi D; Schlack, Claire; Strauss, Gabriele; Kühl, Jörn-Sven; Caldana, Elena; Lo Iacono, Nadia; Susani, Lucia; Kornak, Uwe; Schulz, Ansgar; Vezzoni, Paolo; Villa, Anna; Sobacchi, Cristina



[Primary malignant bone tumors].  


Among human neoplasms, primary malignant bone tumors are fairly rare. They present an incidence rate of roughly 10 cases per 1 million inhabitants per year. During childhood (<15 years), the percentage of malignant bone tumors amounts to 6% of all infantile malignancies. Only leukemia and lymphoma show a higher incidence in adolescence. Of all primary malignant bone tumors, 60% affect patients younger than 45 years and the peak incidence of all bone tumors occurs between 15 and 19 years. The most common primary malignant bone tumors are osteosarcoma (35%), chondrosarcoma (25%), and Ewing's sarcoma (16%). Less frequently (??5%) occurring tumors are chordoma, malignant fibrous histiocytoma of bone, and fibrosarcoma of bone. Vascular primary malignant tumors of bone and adamantinoma are very rare. Staging of the lesion is essential for systemic therapeutic decision-making and includes complete imaging and histo-pathological confirmation of the suspected entity. In most cases, this is established by open- or image-guided biopsy. Based on this information, an interdisciplinary tumor board will determine the individual therapeutic approach. Endoprosthetic or biological reconstruction following wide tumor resection is the most common surgical therapy for primary malignant bone tumors. There is vital importance in a thorough postoperative follow-up and continous after-care by a competent tumor center which is permanentely in charge of therapy. PMID:22130624

von Eisenhart-Rothe, R; Toepfer, A; Salzmann, M; Schauwecker, J; Gollwitzer, H; Rechl, H



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

PubMed Central

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

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



Hereditary osteopetrosis of the rabbit; X-ray, hematologic, and chemical observations.  


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




Hypohidrotic Ectodermal Dysplasia, Osteopetrosis, Lymphedema, and Immunodeficiency in an Infant with Multiple Opportunistic Infections.  


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



Infantile hypertrophic pyloric stenosis  

Microsoft Academic Search

Infantile hypertrophic pyloric stenosis (IHPS) occurs in up to 1 in 4000 babies and results from thickening of the pyloric muscle. Babies with IHPS present with non-bilious projectile vomiting which in turn leads to a hyponatraemic, hypokalaemic, hypochloraemic, metabolic alkalosis. Diagnosis is confirmed by abdominal examination during a ‘test-feed’ during which the hypertrophied pyloric muscle can be palpated as an

Paul RV Johnson



Hyperlexia in Infantile Autism.  

ERIC Educational Resources Information Center

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

Whitehouse, Dennis; Harris, James C.



Multicentric infantile myofibromatosis  

Microsoft Academic Search

Infantile myofibromatosis (IM) is a rare tumor of infancy and childhood, typically presenting as a firm, nodular mass involving soft tissue, bone or viscera. Approximately one-third of cases involve the head and neck. These tumors can be solitary or multicentric. Biopsy reveals tumor cells that resemble myofibroblasts. Spontaneous regression may occur. A high degree of suspicion is necessary to differentiate

Philomena Mufalli Behar; Ford D Albritton; Susan Muller; N Wendell Todd



Differential diagnosis of infantile hemangiomas.  


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

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



Hyperlexia in infantile autism  

Microsoft Academic Search

Twenty boys meeting the current DSM III criteria for infantile autism at the time of diagnosis were found to be hyperlexic\\u000a in childhood and have been followed up for 7–17 years. The most striking feature of the group was the compulsion to decode\\u000a written material without comprehension of its meaning, and this constituted a behavioral phenotype for this population. On

Dennis Whitehouse; James C. Harris




Microsoft Academic Search

A severe form of autosomal recessive osteopetrosis associated with Dandy-Walker syndrome and agene- sis of the corpus callosum is reported in a full-term boy born to consanguineous parents. The diagnosis was made shortly after birth. Clinical features were cranio-facial dysmorphy, macrocephaly, hepato- splenomegaly, severe anemia and thrombocytopenia. Skeletal radiographs revealed generalized increase in bone density and abnormal metaphyseal remodeling. Cranial




Infantile hemangiomas: A review  

PubMed Central

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

Callahan, Alison B.; Yoon, Michael K.



AYA Monograph Malignant Melanoma

Chapter 5 Malignant Melanoma ??????? ??????? ????????????? ?? ??????????????? ?? ??????????????? ??? ??????????? ???????? ?? ? ??????? ??? ?????? ??????? ??? ??????? ????????? ??? ??????????? ???????? ?? ?????????? ?? ??????????? ?????????????? ?? ????? ?? ????????????


Aggressive Infantile Embryonal Tumors  

PubMed Central

Embryonal tumors are the most common brain tumors in infants less than 36 months of age. Histologically characterized as undifferentiated small round cell tumors with divergent patterns of differentiation, these include medulloblastoma, the most common form of embryonal tumor, as well as supratentorial primitive neuroectodermal tumor, medulloepithelioma, ependymoblastoma, medullomyoblastoma, melanotic medulloblastoma, and atypical teratoid/rhabdoid tumor. All are similarly aggressive and have a tendency to disseminate throughout the central nervous system. Because of efforts to avoid craniospinal irradiation in an attempt to lessen treatment-related neurotoxicity, management of these tumors in infants is unique. Outcomes remain similarly poor among all the tumor types and, therefore, identification of specific molecular targets that have prognostic and therapeutic implications is crucial. The molecular and clinical aspects of the three most common aggressive infantile embryonal tumors, medulloblastoma, supratentorial primitive neuroectodermal tumor, and atypical teratoid/rhabdoid tumor, are the focus of this review.

MacDonald, Tobey J.



Infantile Spasms and Lennox-Gastaut Syndrome  

Microsoft Academic Search

Infantile spasms and Lennox-Gastaut syndrome are rare but are important to child neurologists because of the intractable nature of the seizures and the serious neurologic comorbidities. New antiepileptic drugs offer more alternatives for treating both infantile spasms and Lennox-Gastaut syndrome. Selected children with infantile spasms are candidates for epilepsy surgery. Vagus nerve stimulation, corpus callosotomy, and the ketogenic diet are

Edwin Trevathan



Infantile scurvy: a historical perspective.  


Scurvy, a disease of dietary deficiency of vitamin C, is uncommon today. Among diseases, scurvy has a rich history and an ancient past. The Renaissance (14th to 16th centuries) witnessed several epidemics of scurvy among sea voyagers. In 1747, James Lind, a British Naval surgeon, performed a carefully designed clinical trial and concluded that oranges and lemons had the most antiscorbutic effect. Eventually, with the provision of lemon juice to the sea voyagers, scurvy became rare at sea. Infantile scurvy appeared almost as a new disease toward the end of the 19th century. The increased incidence of infantile scurvy during that period was attributed to the usage of heated milk and proprietary foods. Thomas Barlow described the classic clinical and pathologic features of infantile scurvy in 1883. Between 1907 and 1912, Holst and Frolich induced and cured scurvy in guinea pigs by dietary modification. In 1914, Alfred Hess established that pasteurization reduced the antiscorbutic value of milk and recommended supplementation of fresh fruit and vegetable juices to prevent scurvy. Such pioneering efforts led to the eradication of infantile scurvy in the United States. A brief history of infantile scurvy is provided. PMID:11581484

Rajakumar, K



Hyperlexia in infantile autism.  


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

Whitehouse, D; Harris, J C



EXTENSIVE CLINICAL EXPERIENCE Autosomal Dominant Osteopetrosis: Clinical Severity and Natural History of 94 Subjects with a Chloride Channel 7 Gene Mutation  

Microsoft Academic Search

Context: Autosomal dominant osteopetrosis (ADO) is a sclerosing bone disorder caused by heterozygous mutations in the chloride chan- nel 7 (ClCN7) gene. The clinical manifestations of this disease have not been well characterized since the discovery of the genetic basis of ADO. Objectives: The primary objectives were to improve our understand- ing of ADO clinical characteristics and to study the

Steven G. Waguespack; Siu L. Hui; Linda A. DiMeglio; Michael J. Econs



Exclusion of the chromosomal 1p21 region in a large pedigree with a phenotypic variant of type II autosomal dominant osteopetrosis  

Microsoft Academic Search

Purpose. To describe a large family including nine subjects with a mild phenotypic variant of type II autosomal dominant osteopetrosis (ADO II). Methods. Clinical and radiological description. Results are compared to those previously obtained in 42 patients (23 families) with classical ADO II. The present family was haplotyped with five markers from the chromosomal 1p21 region, which was previously shown

Olivier David Bénichou; Els Van Hul; Wim Van Hul; Marie-Christine de Vernejoul



“Challenges in the management of fractures in osteopetrosis”! Review of literature and technical tips learned from long-term management of seven patients  

Microsoft Academic Search

Osteopetrosis is a metabolic disorder with diminished bone resorption due to osteoclastic abnormality. It causes hard and brittle marble bone which fractures easily. Most of these fractures can be treated conservatively. Operative intervention when needed presents with unique technical challenges. While osteopetrotic hard bone may be penetrated with a drill bit; high friction and prolonged drilling can make the drill

Amit Bhargava; Manesh Vagela; C. M. E. Lennox



Infantile amnesia: a neurogenic hypothesis.  


In the late 19th Century, Sigmund Freud described the phenomenon in which people are unable to recall events from early childhood as infantile amnesia. Although universally observed, infantile amnesia is a paradox; adults have surprisingly few memories of early childhood despite the seemingly exuberant learning capacity of young children. How can these findings be reconciled? The mechanisms underlying this form of amnesia are the subject of much debate. Psychological/cognitive theories assert that the ability to maintain detailed, declarative-like memories in the long term correlates with the development of language, theory of mind, and/or sense of "self." However, the finding that experimental animals also show infantile amnesia suggests that this phenomenon cannot be explained fully in purely human terms. Biological explanations of infantile amnesia suggest that protracted postnatal development of key brain regions important for memory interferes with stable long-term memory storage, yet they do not clearly specify which particular aspects of brain maturation are causally related to infantile amnesia. Here, we propose a hypothesis of infantile amnesia that focuses on one specific aspect of postnatal brain development--the continued addition of new neurons to the hippocampus. Infants (humans, nonhuman primates, and rodents) exhibit high levels of hippocampal neurogenesis and an inability to form lasting memories. Interestingly, the decline of postnatal neurogenesis levels corresponds to the emergence of the ability to form stable long-term memory. We propose that high neurogenesis levels negatively regulate the ability to form enduring memories, most likely by replacing synaptic connections in preexisting hippocampal memory circuits. PMID:22904373

Josselyn, Sheena A; Frankland, Paul W



Desmoplastic infantile ganglioglioma: case report.  


Desmoplastic infantile gangliogliomas are very rarely encountered, large supratentorial masses, derived from neuroepithelial origin, which have cystic and solid components and contain cells with astrocytic and ganglionic differentiation. These tumors are benign tumors of childhood that become symptomatic when they reach giant sizes. Sixty cases of desmoplastic ganglioglioma have been reported to date. In the present study, a case of giant desmoplastic infantile ganglioglioma in a 22-month-old patient is presented, which had an aggressive radiological appearance in the midline and presented with atypical symptoms. PMID:19102059

Avci, Emel; Oztürk, Adil; Baba, Füsun; Torun, Fuat; Karaba?, Hamza; Yüceta?, Seyho


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.

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



Infantile convulsions with mild gastroenteritis  

Microsoft Academic Search

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

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



Progenitor cells in infantile hemangioma  

PubMed Central

Infantile hemangioma is a vascular tumor that occurs in 5–10% of infants of European descent. A hallmark of infantile hemangioma is its lifecycle, which is divided into three stages. The proliferating phase spans the first year of postnatal life, and is characterized by cellular masses without a defined vascular architecture as well as nascent blood vessels with red blood cells evident within the lumenal space. The involuting phase begins around one year of age and continues for 3–5 years. Proliferation slows or stops in this phase, and histology shows that the blood vessel architecture becomes more obvious and vessel size is enlarged. The involuted phase is reached by 5–8 years of age, at which point blood vessels are replaced with a fibrofatty residuum and capillary-sized channels. The growth and involution life-cycle of infantile hemangioma is very different from other vascular tumors and vascular malformations, which do not regress and can occur at any time during childhood or adult life. Many laboratories have reported on the endothelial characteristics of the cellular masses that are prominent in the proliferating phase of infantile hemangioma, as well as their immature appearance. These studies, along with isolation and characterization of hemangioma-derived cell populations with progenitor cell properties have lead to an emerging hypothesis that hemangioma is caused by an abnormal or delayed differentiation of mesodermal progenitor cells into the disorganized mass of blood vessels. Here we discuss the literature that support this emerging hypothesis.

Bischoff, Joyce



Infantilization, civilization, and child abuse  

Microsoft Academic Search

This paper attempts to present something of a cultural historical context in order to be able to talk about corporal punishment. Or, even more generally, it presents the cultural historical background of our feelings and perceptions of child abuse in general. First the infantilization process is discussed, that is the increasing duration of childhood over the centuries. Then, by using

Willem Koops



Social class and infantile autism  

Microsoft Academic Search

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

Christopher Gillberg; Helen Schaumann



Malignant Melanoma  

PubMed Central

The diagnosis of malignant melanoma does not necessarily imply a grave prognosis. If the tumor is superficial, the chances of surgical cure may be good. Virtually all malignant melanoma arise from junctional nevi. Most nevi of the palms, soles, and genitalia are junctional nevi, therefore prophylactic excision of these nevi is recommended. The surgical treatment of malignant melanoma involves a wide excision and usually skin graft reconstruction. Chemotherapy and immunotherapy are used as adjuncts in the treatment of disseminated disease.

Birdsell, D. S.



Vigabatrin monotherapy for infantile spasms.  


Infantile spasms syndrome (IS) (also known as West syndrome) is an epileptic encephalopathy with a heterogeneous etiology. One of the most common specific causes is tuberous sclerosis, diagnosed in almost 10% of the affected infants. Adrenocorticotropic hormone or steroids have been the preferred treatments for IS for several decades. Clinical studies have shown that vigabatrin is superior to placebo in decreasing the frequency of infantile spasms. In tuberous sclerosis, vigabatrin may be considered the first-line treatment for IS. The mode of action is increasing concentrations of the inhibitory neurotransmitter GABA in the brain. The use of vigabatrin is limited by a serious adverse effect, permanent visual field constriction, which may affect 6-7% of exposed infants. Treatment choices are based on balancing the potential adverse effects against the risk of catastrophic cognitive and behavioral outcomes caused by uncontrolled spasms. PMID:22364326

Gaily, Eija



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



Infantile nephrotic syndrome and atopy  

Microsoft Academic Search

.   Nephrotic syndrome presenting in the 1st year of life is often associated with a very poor prognosis for normal renal function.\\u000a A small proportion of patients, particularly boys, presenting after the first 3 months of life with idiopathic-type, steroid-sensitive\\u000a nephrosis, have a much better prognosis and may achieve sustained remission. We describe three boys with infantile idiopathic\\u000a nephrotic syndrome

Peter D. Arkwright; Godfrey Clark



Infantile colic, facts and fiction.  


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

Kheir, Abdelmoneim E M



Mothers’ postpartum psychological adjustment and infantile colic  

Microsoft Academic Search

Background: Infantile colic is a common problem of early infancy. There is limited data on the relation between postpartum maternal psychological problems and colic.Aim:: To investigate whether infantile colic is associated with postpartum mood disorders or insecure adult attachment style of the mother.Methods: Seventy eight mothers and newborns were enrolled in this prospective, longitudinal study. Maternal depressive symptoms were screened

I Akman; K Kus?c?u; N O?zdemir; Z Yurdakul; M Solakoglu; L Orhan; A Karabekiroglu; E O?zek



Case of Desmoplastic Infantile Ganglioglioma Secreting Ceruloplasmin  

Microsoft Academic Search

Desmoplastic infantile ganglioglioma is a rare World Health Organization (WHO) grade I tumor commonly arising in early infancy and usually presenting with both solid and cystic components. We report a case of a large midline-enhancing desmoplastic infantile ganglioglioma in which newly formed cysts in communication with lateral ventricles contained highly proteinaceous fluid. Proteomic analysis of the fluid showed three proteins

John Knapp; Lori Olson; Sandra Tye; Jennifer R. Bethard; Cynthia A. Welsh; Zoran Rumbolt; Istvan Takacs; Bernard L. Maria



Severe phenotype in infantile facioscapulohumeral muscular dystrophy  

Microsoft Academic Search

While much is known about the clinical course of adult FSHD, the third most common inherited muscular dystrophy, data on the “infantile phenotype” and especially on the progression of the disease in children are limited. We have followed a cohort of 7 patients with infantile FSHD for 9–25 years and here report the clinical and genetic findings in this group.

Lars Klinge; Michelle Eagle; Irene D. Haggerty; Catherine E. Roberts; Volker Straub; Kate M. Bushby



[Peculiarities of organic psychic infantilism in adolescents].  


An aim of the study was to specify peculiarities of the clinical dynamics of organic psychic infantilism and psychopathological presentations of this disorder in adolescence. A significant prevalence of psychic infantilism caused by organic CNS damage in patients seeking psychiatric help in adolescence and a negative effect of this disorder on social adaptation in this period of life were found. Sixty-seven patients, aged 15-18 years, (ICD-10 diagnosis F06) with signs of psychic infantilism were studied. In these cases, psychic infantilism encompassed all aspects of mental activity and manifested itself as a constant personality trait that caused the infantile type of reaction to the most of life situations. The clinical heterogeneity of organic infantilism determined by the different degree of psychic immaturity in some areas of psychic activity and concomitant encephalopathy symptoms was noted. This allowed to single out 3 groups of patients: with domination of psychic infantilism in volition (28 patients), in emotional sphere (21 patients) and immaturity of cognitive functions (20 patients). The clinical heterogeneity of psychic infantilism likely reflects the character of CNS damage (localization and time of the damage) and specifics of related organic dysontogenesis. PMID:20032950

Grachev, V V



Congenital infantile fibrosarcoma of the forearm  

Microsoft Academic Search

Congenital infantile fibrosarcoma is a rare soft tissue neoplasm in the infant of which only a few cases are reported as congenital. This tumor has a rapid growth and extensive local invasion, but metastasis rarely occurs. Distal extremities involvement is more common and metastasis are rare. We report a case of a congenital infantile fibrosarcoma of the forearm, which was

H. Mnif; M. Zrig; K. Maazoun; L. Sahnoun; S. Bannour; M. Koubaa; A. Nouri; A. Abid



Infantile autism and Wernicke's encephalopathy.  


In this paper I discuss evidence that brain damage in infantile autism may involve the same complex of brainstem nuclei that are damaged by alcohol abuse, thiamine deficiency, and asphyxia. These are metabolically the most active structures in the brain, which makes them vulnerable to many injurious factors. It is my belief that the high metabolic rate in the brainstem nuclei could support a control function for multiplexing of neural pathways, and that if this control is lost it may result in the defects of awareness and responsiveness seen in autistic children. PMID:2204786

Simon, N



Skeletal manifestations of infantile scurvy.  


Recent investigations of human skeletal material from the historic St. Martin's cemetery, England, found a range of abnormal lesions in six infants that are almost certainly related to scurvy. Porous and proliferative bone lesions affecting the cranial bones and scapulae were found, and this paper presents images obtained using both macroscopic and scanning electron microscope examination of the lesions. Previous work on infantile scurvy (Ortner et al., 1997-2001) relied heavily on changes at the sphenoid, which is often missing in archaeological bone, so the identification of changes attributable to scurvy on other cranial bones and the scapulae is encouraging. The ability to recognize changes related to scurvy on a range of bones will ensure an enhanced potential for recognition of this disease in future research involving archaeological bone. Research on historical documents from Birmingham dating to the eighteenth and nineteenth centuries, combined with the probable cases of scurvy identified, supports the view that the paucity of cases of infantile scurvy from the archaeological record reflects a lack of understanding and recognition of bone manifestations, rather than a lack of occurrence in this period. Changes linked to scurvy were only found in infants from the poorer sections of the community from St. Martin's, and this is almost certainly linked to patterns of food consumption and may be related to shortages of potatoes, due to blight, experienced during this period. PMID:16323179

Brickley, Megan; Ives, Rachel



Familial infantile cortical hyperostosis: an update.  


In 1961, the senior author reported 11 members of one family with infantile cortical hyperostosis. Since then, 10 new cases have occurred in this family resulting in a total of 21 cases. The incidence of infantile cortical hyperostosis in this family is as common today as it was two generations ago, and there has been no diminution in the incidence. Several patients with minimal or no clinical symptoms would have gone unrecognized had it not been for the family history of the disorder. On the basis of this study, infantile cortical hyperostosis is inherited as an autosomal dominant with variable penetrance. PMID:6787897

Newberg, A H; Tampas, J P



Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation  

PubMed Central

Hematopoietic stem cell transplantation (HSCT) is often the only practical approach to fatal genetic defects. One of the first pathologies which HSCT was applied to was Autosomal Recessive Osteopetrosis (ARO), a rare genetic bone disease in which a deficit in bone resorption by osteoclasts leads to increased bone density and secondary defects. The disease is often lethal early in life unless treated with HSCT. In utero transplantation (IUT) of the oc/oc mouse, reproducing the clinical features of a subset of ARO, has demonstrated that the quality of life and the survival of transplanted animals are greatly improved, suggesting that a similar protocol could be applied to humans. However, recently the dissection of the molecular bases of the disease has shown that ARO is genetically heterogeneous and has revealed the presence of subsets of patients which do not benefit from HSCT. This observation highlights the importance of molecular diagnosing ARO to identify and establish the proper therapies for a better prognosis. In particular, on the basis of experimental results in murine models, efforts should be undertaken to develop approaches such as IUT and new pharmacological strategies.

Pangrazio, Alessandra; Caldana, Elena; Guerrini, Matteo; Vezzoni, Paolo; Frattini, Annalisa; Sobacchi, Cristina



Malignant mesothelioma  

PubMed Central

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

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



Desmoplastic infantile ganglioglioma -- a case report.  


Desmoplastic infantile ganglioglioma is a very rare supratentorial tumor occurring in the first two years of life. A five-month-old female infant presented with recurrent seizures, large head and loss of acquired milestones. Computerized Tomographic Scan of brain showed a large subarachnoid cyst with a solid intensely contrast enhancing tumor in the right temporoparietal region with severe degree of mass effect. Craniotomy and total excision of the tumor followed subsequently by subduro-peritoneal shunt for the extracerebral fluid collection was done. The child made good recovery. Histopathology revealed features of desmoplastic infantile ganglioglioma, viz., marked desmoplastic component with glial and neuronal elements. Immunohistochemistry showed positive staining for glial fibrillary acidic protein (GFAP) with areas of synaptophysin and chromogranin positivity. Desmoplastic infantile ganglioglioma is a rare tumor of infancy, which has excellent prognosis after total excision. No adjuvant therapy is required. This is the first Indian report of desmoplastic infantile ganglioglioma out of less than fifty cases reported worldwide. PMID:15472436

Balasubramanian, D; Ramesh, V G; Deiveegan, K; Ghosh, Mitra; Mallikarjuna, V S; Annapoorneswari, T P; Chidambaranathan, N; Ramani, K V N



Infantile trauma, genetic factors, and adult temperament  

Microsoft Academic Search

This investigation was concerned with the effects of infantile trauma upon adult temperament, the influence of genetic factors upon temperament, and the possibility of an interaction between early experience and gene structure in their influence upon adult behavior.\\

G. Lindzey; D. T. Lykken; H. D. Winston



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



Congenital infantile fibrosarcoma of the forearm.  


Congenital infantile fibrosarcoma is a rare soft tissue neoplasm in the infant of which only a few cases are reported as congenital. This tumor has a rapid growth and extensive local invasion, but metastasis rarely occurs. Distal extremities involvement is more common and metastasis are rare. We report a case of a congenital infantile fibrosarcoma of the forearm, which was initially confused with a hemangioma, treated successfully by surgical resection. PMID:21411358

Mnif, H; Zrig, M; Maazoun, K; Sahnoun, L; Bannour, S; Koubaa, M; Nouri, A; Abid, A



Malignant hyperthermia.  

PubMed Central

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

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



Hematologic malignancies  

SciTech Connect

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

Hoogstraten, B.



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


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

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



Benign Familial Infantile Convulsions: Phenotypic Variability in a Family  

Microsoft Academic Search

Benign familial infantile convulsion is an autosomal dominant epilepsy syndrome characterized by seizures starting from 3 to 12 months and a favorable outcome. We present a Turkish family with benign familial infantile convulsions and report the clinical variability associated with this syndrome in three generations. All 11 affected members had benign infantile seizures, which were primarily generalized in all but

Ercan Demir; Güzide Turanl?; Dilek Yaln?zo?lu; Meral Topcu



Spontaneous Remission of Solitary-Type Infantile Myofibromatosis  

PubMed Central

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.

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



Type II benign osteopetrosis (Albers-Schönberg disease) caused by a novel mutation in CLCN7 presenting with unusual clinical manifestations.  


A 16-year-old male patient with type II autosomal dominant benign osteopetrosis (ADO) was genotyped and found to harbor a novel mutation in exon 25 of the gene encoding for the osteoclast-specific chloride channel, CLCN7, inherited from the father, who was asymptomatic. The patient had normal biochemical findings and acid-base balance, except for increased serum levels of creatine kinase, lactic dehydrogenase, and the bone formation markers bone alkaline phosphatase isoenzyme, osteocalcin and N-terminal type I collagen telopeptide/creatinine ratio. Unusual generalized osteosclerosis was observed together with a canonical increase in vertebral and pelvis bone mass. An affected first grade cousin presented with normal biochemical findings and a milder osteosclerotic pattern of the pelvis. At the cellular level, cultured osteoclasts from the patient showed increased motility, with lamellipodia, membrane ruffling and motile pattern of podosome distribution, all of which could have contributed to functional impairment of bone resorption. The present report documents a novel mutation of the CLCN7 gene causing osteopetrosis in a radiologically uncertain form of the diseases, with apparent incomplete penetrance. PMID:14564431

Letizia, C; Taranta, A; Migliaccio, S; Caliumi, C; Diacinti, D; Delfini, E; D'Erasmo, E; Iacobini, M; Roggini, M; Albagha, O M E; Ralston, S H; Teti, A



Desmoplastic infantile and non-infantile ganglioglioma. Review of the literature.  


Desmoplastic gangliogliomas (DIG) are rare primary neoplasms that comprise 0.5-1.0% of all intracranial tumors. Clinically, there are two forms of DIG, the infantile and the non-infantile. These tumors invariably arise in the supratentorial region and commonly involve more than one lobe, preferentially the temporal and frontal. On neuroimaging are seen as large hypodense cystic masses with a solid isodense or slightly hyperdense superficial portion. The histologic diagnosis is characterized by the presence of three different cell lines: astrocytic, neuronal, and primitive neuroectodermal marker sites, which were demonstrable. The treatment of choice is radical surgical excision, and if this is done, achieved complete healing of the patient does not require additional treatment. A literature review of DIG was compiled through Medline/Ovid using the keywords "desmoplastic infantile ganglioglioma", "desmoplastic non-infantile ganglioglioma" covering the years 1984-2009. We present a review of a total of 113 cases of infantile (94) and non-infantile gangliogliomas (19) published to date, examining the clinical, radiologic, surgical, and pathological aspects, as well as the outcome. Desmoplastic gangliogliomas represent a rare tumor group with two well-defined age groups, the children and non-children. Desmoplastic infantile gangliogliomas are the most common and occur in children below 5 years of age, and the large majority of them present within the first year of life. Surgery is the treatment of choice and no complementary treatment is needed in cases of complete tumor resection. PMID:21246390

Gelabert-Gonzalez, Miguel; Serramito-García, Ramón; Arcos-Algaba, Andrea



Malignant melanoma.  


"Melanoma has become a major public health problem worldwide and its incidence in individuals of European origin continues to rise. Melanoma is the third most common cancer in Australia (in men and women); the fifth in the United States (in men and women); and the 12th in men and the sixth in women in the United Kingdom" (J. G. Thompson, R. A. Scolyer, & R. F. Kefford, 2009, p. 362). The American Cancer Society estimated that about 68,720 new melanomas were diagnosed in the United States during 2009, resulting in about 8,650 deaths. The purpose of this article is to explain the pathophysiologic components of malignant melanoma. PMID:21876415

Wilkerson, Brenda L


Severe phenotype in infantile facioscapulohumeral muscular dystrophy.  


While much is known about the clinical course of adult FSHD, the third most common inherited muscular dystrophy, data on the "infantile phenotype" and especially on the progression of the disease in children are limited. We have followed a cohort of 7 patients with infantile FSHD for 9-25 years and here report the clinical and genetic findings in this group. Infantile FSHD is relatively rare, amounting to 4% of all of our FSHD patients. Despite some variability in the progression, infantile FSHD has a more consistent phenotype than adult FSHD. Although they had normal motor milestones, all patients showed facial weakness from early childhood, and subsequently were severely affected with rapid progression of the disease, marked muscular wasting, weakness, and hyperlordosis. None of the patients have shown signs of nocturnal hypoventilation or cardiomyopathy so far. No correlation was found between sex and the severity of phenotype whereas all but one patient had very short fragment sizes of the D4Z4 repeat. Only two patients had a de novo mutation: 3 patients inherited the mutation from a parent with somatic mosaicism, and one was inherited from a parent with classical adult FSHD. One patient was unusual in having one allele inherited from his father who showed somatic mosaicism and one allele with an additional de novo mutation. We conclude that infantile FSHD is a severe and rapidly progressive disease, and this needs to be taken into account in the advice given to patients diagnosed in early childhood. However, our data also suggest that the risk to an individual with classical FSHD of having a child with the infantile form is low. PMID:16934468

Klinge, Lars; Eagle, Michelle; Haggerty, Irene D; Roberts, Catherine E; Straub, Volker; Bushby, Kate M



[Malignant melanoma].  


Malignant melanomas have one of the highest increases in incidence among malignancies. There are four histological types: superficial spreading melanoma, nodular melanoma, acrolentiginous melanoma and lentigo maligna melanoma. The TNM classification considers depth of infiltration (Clark's level), vertical tumor thickness (Breslow's thickness), ulceration of the primary tumor, satellites and in-transit metastases as well as regional lymph node and distant metastases. An adequate margin of clearance is important in primary resection. Sentinel lymph node biopsy is relevant in all melanomas with a Breslow tumor thickness >1 mm without clinically suspicious lymph nodes. In the case of lymph node metastases therapeutic dissection is recommended, in patients with in-transit metastases of the extremities hyperthermic isolated limb perfusion with cytostatic agents may be indicated. Resection of distant metastases can be useful if only one site is affected or a R0 resection is expected to be achieved. Adjuvant, neoadjuvant and palliative procedures, such as radiotherapy, chemotherapy and immunotherapy are additional treatment options. PMID:19444395

Göhl, J; Hohenberger, W; Merkel, S



Malignant hyperthermia  

PubMed Central

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



Pattern reversal evoked potentials in infantile spasms.  


Visual evoked potentials in response to sinusoidal gratings of various spatial frequencies, alternating in contrast at 8 Hz were recorded from infants affected by an idiopathic form of infantile spasms (West syndrome). In two infants in whom the spasms began at 3 and 5 months of age, respectively, the VEP's were found to be depressed in amplitude at and around a spatial frequency of 3 and 5 c/deg, respectively. This midfrequency depression, which has never been reported in the literature for normal infants, suggests that infantile spasms in idiopathic patients may interfere at least temporarily with the development of visual function. PMID:6480435

Taddeucci, G; Fiorentini, A; Pirchio, M; Spinelli, D



Infantile rhabdomyofibrosarcoma: A potentially underdiagnosed aggressive tumor.  


Infantile Rhabdomyofibrosarcoma (IRMFS) is a rare clinicopathological entity that resembles infantile fibrosarcoma (IFS) but has ultrastructural and immunohistochemical evidence of rhabdomyoblastic differentiation. We report a 2 years and 6 months old boy who presented with a slowly progressive large soft-tissue mass in left axillary region. After complete excision, histopathology report revealed diagnosis of IFS. Review of the histopathology with immunohistochemistry (positive for desmin) revealed diagnosis of IRMFS. He was treated with aggressive adjuvant chemotherapy. He was in complete remission 6 months after completion of chemotherapy. In view of poor prognosis and aggressive treatment approaches for IRMFS, it must be differentiated from IFS to avoid under treatment. PMID:23776843

Chaudhary, Narendra; Shet, Tanuja; Borker, Anupama



Infantile rhabdomyofibrosarcoma: A potentially underdiagnosed aggressive tumor  

PubMed Central

Infantile Rhabdomyofibrosarcoma (IRMFS) is a rare clinicopathological entity that resembles infantile fibrosarcoma (IFS) but has ultrastructural and immunohistochemical evidence of rhabdomyoblastic differentiation. We report a 2 years and 6 months old boy who presented with a slowly progressive large soft-tissue mass in left axillary region. After complete excision, histopathology report revealed diagnosis of IFS. Review of the histopathology with immunohistochemistry (positive for desmin) revealed diagnosis of IRMFS. He was treated with aggressive adjuvant chemotherapy. He was in complete remission 6 months after completion of chemotherapy. In view of poor prognosis and aggressive treatment approaches for IRMFS, it must be differentiated from IFS to avoid under treatment.

Chaudhary, Narendra; Shet, Tanuja; Borker, Anupama



Infantile Subdural Hematomas due to Traffic Accidents  

Microsoft Academic Search

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

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




Microsoft Academic Search

A 58 years old female patient married for 40 years, nulliparous, presented in outpatient department with the complaint of postmenopausal bleeding off and on for six months. Her total abdominal hysterectomy and bilateral salpingoopherectomy was performed. Uterus was small in size (infantile). Histopathology revealed endometrial hyperplasia with atypia.

Shaila Anwar; Nabeela Shami; Iram Akmal; Shaheena Asif


[Infantile acropustulosis. Considerations on 11 cases].  


Eleven patients with infantile acropustulosis, 10 from Mendoza and one from Buenos Aires, are presented. Remarkably was a blood eosinophilia in 4 cases and the prompt improvement with dapsone in 2 cases. The differential diagnosis with other dermatosis, specially with scabies, are discussed. PMID:3309498

Pizzi de Parra, N; Larralde de Luna, M; Cicioni, V; Parra, C A



Infantile and adult testicular germ cell tumors  

Microsoft Academic Search

Most adult testicular germ cell tumors have a characteristic chromosomal abnormality that is an isochromosome 12p [i(12p)]. Furthermore, these tumors are characterized by a chromosome number in the triploid range and gains and losses of (parts of) specific chromosomes. Cytogenetic investigation of three cases of infantile testicular germ cell tumors, all diagnosed as yolk sac tumors, revealed highly abnormal karyotypes.

Jannie van Echten; Albertus Timmer; Anneke Y van der Veen; Willemina M Molenaar; Bauke de Jong



Infantile myofibromatosis of the craniovertebral junction.  


Infantile myofibromatosis (IM) is a rare pathological entity characterized by solitary or multiple nodular skin, soft tissues or bony lesions. Craniovertebral (CV) junction lesions are rare. We report the successful management of a solitary IM involving the posterior elements of the CV junction in a 6-month-old child. PMID:18661320

Sinha, A K; Jesudason, E C; Mallucci, C L; Losty, P D; Kokai, G; Pizer, B L



Cytogenetic characterization of congenital or infantile fibrosarcoma  

Microsoft Academic Search

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

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



"Challenges in the management of fractures in osteopetrosis"! Review of literature and technical tips learned from long-term management of seven patients.  


Osteopetrosis is a metabolic disorder with diminished bone resorption due to osteoclastic abnormality. It causes hard and brittle marble bone which fractures easily. Most of these fractures can be treated conservatively. Operative intervention when needed presents with unique technical challenges. While osteopetrotic hard bone may be penetrated with a drill bit; high friction and prolonged drilling can make the drill bit blunt. The heat generated can cause bone necrosis and break the drill bit. Besides this, brittleness of bones can cause intra-operative fractures. Due to the difficulties during the operation, the operative time may be prolonged thereby increasing the risk of post-operative infection. There is also a risk of delay in consolidation and non-union owning to impaired bone remodelling. We present an account of seven patients treated for various fracture related problems occurring throughout their life due to this disease. Difficulties encountered during their treatment prompted us to present some general management principles. PMID:19576583

Bhargava, Amit; Vagela, Manesh; Lennox, C M E



Reversible enteritis and lymphopenia in infantile X-linked agammaglobulinemia  

Microsoft Academic Search

Diarrhea is common in children with severe combined immunodeficiency (1) but is a rare symptom in patients with infantile X-linked agammaglobulinemia (2-4). Diarrhea in infantile X-linked agammaglobulinemia with abnormalities in the small intestinal mucosa due to giardiasis has been reported (3) and als0 ascribed to isolated lactase deficiency with normal intestinal histology (5). This report describes a child with infantile

Joung Wye Rhee; Joyce D. Gryboski; Daniel G. Sheahan; Thomas F. Dolan; John M. Dwyer



Malignant hyperthermia  

PubMed Central

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

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



Multicentric infantile myofibromatosis: two perinatal cases.  


Infantile myofibromatosis, the most common fibrous tumor of infancy, occurs in solitary, multiple, and generalized forms, with similar histology but different clinicopathologic and prognostic implications. This entity is a mesenchymal disorder characterized by the proliferation of fibrous tumors in the skin, muscles, viscera, bones, and subcutaneous tissues. Visceral lesions are associated with significant morbidity and mortality, generally within the first few months of life. They lead to failure to thrive, to infection, hemorrhage, or to the obstruction of vital organs. We describe two cases of multicentric myofibromatosis with significant in utero lesional growth, resulting in one fetal demise and one post-natal demise. To the best of our knowledge, this is the first report of a fetal death secondary to infantile myofibromatosis. PMID:17186271

Pelluard-Nehmé, Fanny; Coatleven, Frederic; Carles, Dominique; Alberti, Eve Marie; Briex, Michel; Dallay, Dominique



The hazards of honey: infantile botulism  

PubMed Central

Infantile botulism is a rare cause of neuromuscular weakness resulting from ingestion of Clostridium botulinum—an anaerobic Gram-positive bacillus found universally in soil. The only definite food source known to cause infantile botulism is honey; previously, links to formula milk have been postulated but not definitely sourced. We present an interesting case report of a 2-month-old infant with this rare condition, including the diagnostic difficulties that ensued. A brief overview of the condition follows. This is the first case in the UK in which C botulinum was successfully isolated from both the patient and the suspected source—a jar of honey. The importance of food labelling as a public health message is highlighted.

Smith, Jennifer K; Burns, Sarah; Cunningham, Steve; Freeman, Julie; McLellan, Ailsa; McWilliam, Kenneth



The hazards of honey: infantile botulism.  


Infantile botulism is a rare cause of neuromuscular weakness resulting from ingestion of Clostridium botulinum-an anaerobic Gram-positive bacillus found universally in soil. The only definite food source known to cause infantile botulism is honey; previously, links to formula milk have been postulated but not definitely sourced. We present an interesting case report of a 2-month-old infant with this rare condition, including the diagnostic difficulties that ensued. A brief overview of the condition follows. This is the first case in the UK in which C botulinum was successfully isolated from both the patient and the suspected source-a jar of honey. The importance of food labelling as a public health message is highlighted. PMID:22778374

Smith, Jennifer K; Burns, Sarah; Cunningham, Steve; Freeman, Julie; McLellan, Ailsa; McWilliam, Kenneth



Psychosocial predisposing factors for infantile colic  

Microsoft Academic Search

OBJECTIVE--To study associations between characteristics of families during the first pregnancy and after childbirth and the development of infantile colic. DESIGN--Randomised, stratified cluster sampling. Follow up from the first visit to a maternity health care clinic during pregnancy to three months after birth with confidential semistructured questionnaires. SETTING--Maternity health care clinics in primary health care centres in Finland. SUBJECTS--1443 nulliparous

P Rautava; H Helenius; L Lehtonen



Endothelial progenitor cells in infantile hemangioma  

Microsoft Academic Search

Infantile hemangioma is an endothelial tumor that grows rapidly after birth but slowly regresses during early childhood. Initial proliferation of hemangioma is char- acterized by clonal expansion of endothe- lial cells (ECs) and neovascularization. Here, we demonstrated mRNA encoding CD133-2, an important marker for endo- thelial progenitor cells (EPCs), predomi- nantly in proliferating but not involuting or involuted hemangioma. Progenitor

Ying Yu; Alan F. Flint; John B. Mulliken; June K. Wu; Joyce Bischoff



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



Infantile hypertrophic pyloric stenosis: an infectious cause?  

Microsoft Academic Search

The aetiology of infantile hypertrophic pyloric stenosis (IHPS) remains unclear. The aim of this study was to test the hypothesis\\u000a that a common bacterium, Helicobacter pylori (HP) may be implicated in the pathogenesis of IHPS. Thirty-nine consecutive infants with confirmed IHPS had their stool analysed\\u000a with an enzyme immunoassay for the presence of HP. An age\\/sex-matched group of infants with

W. Sherwood; M. Choudhry; K. Lakhoo



Infantile and acquired nystagmus in childhood.  


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

Ehrt, Oliver



[Morbus Albers Schonberg osteopetrosis].  


The patient presented has bone disease, so called "mramor disease". The disease is characterized by insuffiticnty of ostcoclasts which results n persisting of primary spongiosis without normal eroding and bone rebuilding. The discase is diagnosed by X rays where the bone density is increased. The medular space is completly closed by dense bone knitting which, with soft cortical space, seems like bone in bone. This is autosomal recessive disease with serious clinical picture in infants. PMID:15875483

Saracevi?, Ediba; Hasanbegovi?, Edo



Part Two: Infantile Spasms--The New Consensus  

ERIC Educational Resources Information Center

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

Pellock, John M.; O'Hara, Kathryn



A pair of classically early infantile autistic siblings  

Microsoft Academic Search

This case study describes in detail two autistic siblings who were mentioned in Rimland's analysis of checklists for psychotic children, as the only pair of classically early infantile autistic siblings (Rimland, 1971). One of the children, a nonverbal girl, now 13 years old, who developed epileptic seizures at age 4 1\\/2, shows all symptoms of early infantile autism even today.

Beatrix Verhees



Infantile digital fibromatosis: late results of two different treatment approaches  

Microsoft Academic Search

Infantile digital fibromatosis is a rare childhood benign tumor that mainly affects digits of hands and feet. Spontaneous regression has been reported, leaving the treatment options of observation or surgery a controversial topic. In this article, two cases of infantile digital fibromatosis treated with different approaches are presented. Observation alone was utilized in the first case. No spontaneous regression was

N. Tan Baser; D. Tuncali; U. Balci Akbuga; G. Aslan



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



Therapeutic Trial of Vigabatrin in Refractory Infantile Spasms  

Microsoft Academic Search

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

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



Primary giant congenital infantile fibrosarcoma of the left forearm.  


Infantile fibrosarcoma is a rare soft tissue tumor in the infant, and only a few cases have been reported as congenital. We report a case of congenital infantile fibrosarcoma of the left forearm at birth. An amputation was performed because the tumor was relapsed soon after surgical removal, and associated with anabrosis and bleeding. PMID:23886865

Duan, S; Zhang, X; Wang, G; Zhong, J; Yang, Z; Jiang, X; Li, J



Physiological Regulation and Infantile Anorexia: A Pilot Study  

ERIC Educational Resources Information Center

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

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



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

ERIC Educational Resources Information Center

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

Skager, Rodney



Stereopsis and binocular vision after surgery for unilateral infantile cataract  

Microsoft Academic Search

Purpose: To assess the prevalence and level of binocular function in children with unilateral congenital or very early infantile cataract. Methods: We retrospectively reviewed the charts of all patients with unilateral congenital or very early infantile cataract who underwent operation before 4 months of age, at the W. K. Kellogg Eye Center\\/University of Michigan Hospitals, from 1985 to 1995. Amblyopia

Sandra M. Brown; Steven Archer; Monte A. Del Monte



Physiological Regulation and Infantile Anorexia: A Pilot Study  

ERIC Educational Resources Information Center

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

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



La mortalité infantile en France suivant le milieu social  

Microsoft Academic Search

[fre] Les différences de mortalité infantile suivant le milieu social en France sont décrites sur la base des résultats relatifs aux générations 1950, 1951 et 1955 à 1970. Le taux moyen de mortalité infantile de la génération 1950 qui était de 52 décédés de moins d'un an pour 1 000 nés vivants, a baissé jusqu'à la génération 1960 au rythme

Solange Hémery; Marie-Claude Gérard



Congenital-infantile fibrosarcoma masquerading as sacrococcygeal teratoma  

Microsoft Academic Search

Infantile fibrosarcoma is rare and represents less than 1% of all childhood cancers. Commonly, it arises in the limbs followed by the trunk and head and neck. We report a rare case of infantile fibrosarcoma masquerading as sacrococcygeal teratoma in a newborn. The literature on the subject is also reviewed.

Ahmed H. Al-Salem



Congenital-infantile fibrosarcoma masquerading as sacrococcygeal teratoma.  


Infantile fibrosarcoma is rare and represents less than 1% of all childhood cancers. Commonly, it arises in the limbs followed by the trunk and head and neck. We report a rare case of infantile fibrosarcoma masquerading as sacrococcygeal teratoma in a newborn. The literature on the subject is also reviewed. PMID:22075353

Al-Salem, Ahmed H



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

Microsoft Academic Search

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

Shahnaz Ibrahim; Shamshad Gulab; Sidra Ishaque; Taimur Saleem



An ultramicroscopic study of the skin in the diagnosis of the infantile and late infantile types of ceroid-lipofuscinosis.  

PubMed Central

A skin biopsy was carried out in two children suffering from early infantile (Santavuori) and late infantile (Jansky-Bielschowsky) types of ceroid-lipofuscinosis. In both cases cytoplasmic inclusions, identical with those found in neurones, were present in the skin. Skin biopsy thus appears as a simple technique for the diagnosis of the ceroid-lipofuscinoses. Images

Arsenio-Nunes, M L; Goutieres, F



Morphologic Overlap between Infantile Myofibromatosis and Infantile Fibrosarcoma: A Pitfall in Diagnosis.  


Infantile myofibromatosis (IM) is a distinctive mesenchymal disorder with different clinical forms, including solitary, multicentric, and generalized with visceral involvement. A wide morphologic spectrum is encountered, with the extremes resembling congenital infantile fibrosarcoma (CIFS) and infantile hemangiopericytoma. We report a series of lesions with mixed features of CIFS and IM and compare them in order to further define their clinicopathologic features and the significance of the so-called composite fibromatosis. Seven lesions with unusual overlapping morphologic "composite" features of both IM and CIFS were selected from a series of 106 myofibroblastic lesions. Three cases classified as composite infantile myofibromatoses (COIM) were highly cellular tumors with a diffuse growth of primitive mesenchymal cells and focal features of IM combined with areas resembling infantile fibrosarcoma (IF). Four cases were classified as IF. Three of these exhibited a biphasic pattern with foci resembling IM, including whorls of primitive and spindle cells and perivascular and intravascular projections of myofibroblastic nodules, and the 4th had a close histologic resemblance to a primitive, immature IM. With reverse transcriptase polymerase chain reaction, the ETV6-NTRK3 transcript was absent in 3 COIM and was detected in 3 CIFS; the other CIFS had typical cytogenetic aberrations. On the basis of currently available information, COIM represents a morphologic variant of IM that can mimic IF. Careful histologic evaluation to detect the typical features of IM is essential to avoid classification as IF. Molecular analysis for the ETV6-NTRK3 gene fusion is an important diagnostic tool in this group of lesions. PMID:19006426

Alaggio, Rita; Barisani, Donatella; Ninfo, Vito; Rosolen, Angelo; Coffin, Cheryl M



Immunodeficiency and infantile bone and joint infection.  

PubMed Central

Fifteen patients with infantile bone and joint infections were studied immunologically and clinically, 3 at the time of illness and 12 later. Abnormality of immunoglobulins, or complement, or phagocytes was found in 9 patients; 6 were within normal limits for the tests undertaken. Immunodeficiency is probably responsible for the subdued clinical signs of infection and for delayed diagnosis in some patients. It was also related to the extent of femoral head damage in infective arthritis of the hip and to the incidence of wound infection in late elective surgery. Images FIG. 1. FIG. 2. FIG. 3.

Kuo, K N; Lloyd-Roberts, G C; Orme, I M; Soothill, J F



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


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



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.

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



Gratification disorder ("infantile masturbation"): a review  

PubMed Central

Background: Little has been published on gratification disorder ("infantile masturbation") in early childhood. Aims: To expand on the profile of patients diagnosed with this condition. Methods: Retrospective case note review; Fraser of Allander Neurosciences Unit paediatric neurology outpatient department 1972–2002. Results: Thirty one patients were diagnosed (11 males and 20 females). Twenty one were referred for evaluation of possible epileptic seizures or epilepsy. The median age at first symptoms was 10.5 months (range 3 months to 5 years 5 months). The median age at diagnosis was 24.5 months (range 5 months to 8 years). The median frequency of events was seven times per week, and the median length 2.5 minutes. Events occurred in any situation in 10 children, and in a car seat in 11. Types of behaviour manifested were dystonic posturing in 19, grunting in 10, rocking in 9, eidetic imagery in 7, and sweating in 6. Two children had been previously diagnosed as having definite epilepsy. In nine cases home video was invaluable in allowing confident diagnosis. Conclusion: Gratification disorder, otherwise called infantile masturbation, is an important consideration in the differential diagnosis of epilepsy and other paroxysmal events in early childhood. Home video recording of events often prevents unnecessary investigations and treatments.

Nechay, A; Ross, L; Stephenson, J; O'Regan, M



Anogenital malignancies and pre-malignancies.  


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



Infantile botulism caused by Clostridium butyricum type E toxin.  


The case of a 9-month-old boy with infantile botulism caused by Clostridium butyricum type E toxin is reported. Because infantile botulism is rare in Japan, it was difficult to diagnose it at an early stage. Electrophysiologic findings were useful for the diagnosis, and were characterized by incremental responses (waxing) to short intervals and rapid repetitive nerve stimulation. A bioassay for botulism in mice indicated that the patient had botulism due to type E or F botulinum toxin. C. butyricum type E was isolated from his feces, confirming the diagnosis. This is the first known case of infantile botulism due to C. butyricum type E toxin in Japan. PMID:18054696

Abe, Yuichi; Negasawa, Tetsuro; Monma, Chie; Oka, Akira



Infantile fibromatosis (desmoid type)--a case report.  


Infantile fibromatosis represents the childhood counter part of musculoaponeurotic fibromatosis & arises as a solitary mass in skeletal muscle, adjacent fascia, aponeurosis or periosteum. The lesion is extremely rare. Microscopically it exists in two forms diffuse (mesenchymal) & desmoid. The less common desmoid form rarely occurs in infancy. Immunophenotype shows vimentin positivity with variable positivity with muscle markers. The differential diagnosis of this type is infantile fibrosarcoma. The tumor may locally recur if inadequately excised. We report a case of infantile fibromatosis of desmoid type occurring in 10 months male child for its extreme rarity. PMID:16761760

Desai, S R; Dombale, V D; Janugade, H B



The G215R Mutation in the Cl?/H+-Antiporter ClC-7 Found in ADO II Osteopetrosis Does Not Abolish Function but Causes a Severe Trafficking Defect  

PubMed Central

Background ClC-7 is a ubiquitous transporter which is broadly expressed in mammalian tissues. It is implied in the pathogenesis of lysosomal storage disease and osteopetrosis. Because of its endosomal/lysosomal localization it is still poorly characterized. Methodology/Principal Findings An electrophysiological characterization of rat ClC-7 using solid-supported membrane-based electrophysiology is presented. The measured currents show the characteristics of ClC-7 and confirm its function as a Cl?/H+-antiporter. We have used rat ClC-7 in CHO cells as a model system to investigate the functionality and cellular localization of the wt transporter and its variant G213R ClC-7 which is the analogue of human G215R ClC-7 responsible for autosomal dominant osteopetrosis type II. Our study shows that rat G213R ClC-7 is functional but has a localization defect in CHO cells which prevents it from being correctly targeted to the lysosomal membrane. The electrophysiological assay is tested as a tool for drug discovery. The assay is validated with a number of drug candidates. It is shown that ClC-7 is inhibited by DIDS, NPPB and NS5818 at micromolar concentrations. Conclusions/Significance It is suggested that the scenario found in the CHO model system also applies to the human transporter and that mislocalization rather than impaired functionality of G215R ClC-7 is the primary cause of the related autosomal dominant osteopetrosis type II. Furthermore, the robust solid-supported membrane-based electrophysiological assay is proposed for rapid screening for potential ClC-7 inhibitors which are discussed for treatment of osteoporosis.

Schulz, Patrick; Werner, Johannes; Stauber, Tobias; Henriksen, Kim; Fendler, Klaus



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


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

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



Paraphilic infantilism. A rare case of fetishistic behaviour.  


A rare case of infantile behaviour of a fetishistic nature in an 80-year-old man was possibly related to a head injury at the age of six, when his regression first began. Treatment was deemed unwarranted. PMID:2279218

Pandita-Gunawardena, R



Infantile fibrosarcoma: Magnetic resonance imaging findings in six cases  

Microsoft Academic Search

PurposeTo retrospectively review magnetic resonance (MR) imaging features in a series of six infantile fibrosarcomas to find out if MR can suggest this unusual diagnosis and to highlight the value of MR during and following treatment.

Sandra Canale; Daniel Vanel; Dominique Couanet; Catherine Patte; Caroline Caramella; Clarisse Dromain



Solitary infantile myofibromatosis of the cranial vault: case report  

Microsoft Academic Search

Infantile myofibromatosis is a mesenchymal disorder of early childhood characterized by the formation of tumors in the skin,\\u000a muscle, viscera, bone, and subcutaneous tissue. Although relatively rare overall, it represents the most common fibrous tumor\\u000a of infancy. The etiology of this disorder is unknown. Infantile myofibromatosis can present as a solitary or multicentric\\u000a form. With the multicentric form, bone is

Paolo Merciadri; Marco Pavanello; Paolo Nozza; Alessandro Consales; Giuseppe Marcello Ravegnani; Gianluca Piatelli; Carlo Gandolfo; Armando Cama



Infantile parkinsonism-dystonia: a dopamine "transportopathy"  

PubMed Central

The dopamine transporter (DAT) retrieves the neurotransmitter dopamine from the synaptic cleft at dopaminergic synapses. Variations in solute carrier family 6A, member 3 (SLC6A3/DAT1), the human gene encoding DAT, have been implicated in attention deficit hyperactivity and bipolar disorders, and DAT is a prominent site of action for drugs such as amphetamines and cocaine. In this issue of the JCI, Kurian et al. report that an autosomal recessive infantile parkinsonism-dystonia is caused by loss-of-function mutations in DAT that impair dopamine reuptake (see the related article beginning on page 1595). Though this might be predicted to result in dopamine excess in the synaptic cleft, it likely also causes depletion of presynaptic dopamine stores and possibly downregulation of postsynaptic dopamine receptor function, resulting in impairments in dopaminergic neurotransmission consistent with the clinical presentation. This is the first report of a genetic alteration in DAT function underlying a parkinsonian disorder.

Blackstone, Craig



Medial epiphysiolysis in severe infantile tibia vara.  


Recurrent varus deformity and shortening frequently result following valgus osteotomy alone for advanced stage infantile tibia vara (ITV), due to the proximal medial physeal dysfunction which resembles a complete growth arrest in Langenskiöld grade III or greater lesions. Epiphysiolysis is a possible treatment alternative which, if successful, can restore symmetric proximal tibial growth and obviate the need for additional complex treatments to address recurrent angular deformity and limb length inequality. We reviewed 24 patients, ages 5-10 years, with 27 affected tibiae, who underwent epiphysiolysis of the proximal medial tibia combined with valgus osteotomy. The procedure was >80% successful in restoring growth and avoiding varus recurrence in children <7 years old. Patients >age 7, patients with relative undercorrection of their mechanical axis at the time of surgery, and patients with previous failed surgical treatment were more likely not to benefit from epiphysiolysis, and consequently alternative methods may be more appropriate. PMID:16932107

Andrade, Nicholas; Johnston, Charles E


Infantile hemangioendothelioma: A case report and discussion.  


Infantile hepatic hamangioendothelioma type II is similar to angiosarcoma in terms of histomorphology and behavior. Various presentations of this lesion have been reported in the literature, e.g. cases with a hepatic mass, cutaneous hemangiomas, heart failure, etc. We report on a patient, male/2 years, who had two jejunal masses and a hepatic mass accompanied by lower GI bleeding and intestinal obstruction. The two jejunal masses and the hepatic lesion were diagnosed as angiosarcoma histomorphologically (IHHE type II), and were positive for vascular markers (CD31 and CD34) on immunohistochemistry. The patient had no skin lesions. We report this case and provide a literature review because of the unusual presentation and the overall rarity of this entity. PMID:19321270

Ganguly, R; Mukherjee, A



Infantile hypotonia with failure to thrive  

PubMed Central

Summary Background: Pompe disease is a lysosomal glycogen storage disease (GSDII) characterized by deficiency of acid glucosidase, resulting in lysosomal glycogen accumulation in multiple tissues, with cardiac and skeletal muscles being the most seriously affected. It manifests itself as a spectrum in multiple age groups including infancy, childhood and adulthood. Case Report: We present a case of infantile Pompe disease that was detected at a four month well visit in the presence of hypotonia and failure to thrive. Conclusions: Pompe disease can be diagnosed clinically by plotting growth parameters and performing developmental screening accurately. Enzyme replacement is the only available medical treatment for Pompe disease. High index of suspicion is necessary in diagnosing Pompe disease.

Nagiub, Mohamed; Alton, Karen; Anne, Premchand



Differential diagnosis in progressive infantile spastic tetraparesis.  


Progressive infantile spastic tetraparesis spans a wide spectrum of partially rare differential diagnoses. Based on a clinical example the differential diagnostic thoughts are discussed in detail. Though juvenile motor neuron disease is a rare entity, it has to be kept in mind for differential diagnostics in cases of slowly progressive spastic tetraparesis, especially when a pseudobulbar palsy or distal amyotrophies add to the clinical picture. Electromyography can be helpful for early detection of lower motor neuron involvement. The glutamate antagonist riluzole slows the disease progression, but a causal treatment is not available, yet. Therefore symptomatic treatment of disturbing symptoms like muscle cramps, spasticity, pseudobulbar affect, dyspnea or dysphagia are of major interest. PMID:19008170

Kühnlein, Peter; Sperfeld, A-D; Gdynia, H-J



Infantile Hemangiomas Masquerading as Other Periocular Disorders  

PubMed Central

Periocular tumors are common in infancy. The most common periocular tumors are capillary hemangiomas, which are present in 1-2% of newborns and develop in 10%–12% of children by the age of 1 year old. Deep capillary hemangiomas may be more challenging to diagnose than superficial capillary hemangiomas and can be confused with other orbital lesions. Deep orbital hemangiomas can mimic teratoma, lymphangioma, rhabdomyosarcoma, metastatic neuroblastoma, and granulocytic sarcoma. In this paper, we describe 2 pediatric cases where previously diagnosed dermoid cyst and dacrocystocele were found to be capillary hemangiomas upon biopsy. Approaches to distinguish capillary hemangiomas from other periocular tumors are further discussed. To our knowledge, this is the first case report of periocular hemangiomas imitating a dermoid cyst and a dacrocystocele. These cases emphasize the importance of including infantile hemangiomas in the differential diagnosis of subcutaneous periocular abnormalities.

Hsu, Jennifer; Mohney, Brian G.



Intraosseous infantile myofibroma of the mandible  

PubMed Central

The myofibroma, especially the intraosseous variety, is an uncommon benign tumor that occurs primarily in children younger than 3 years of age. Since 1966, less than 40 cases of solitary myofibromas of the mandible have been reported in the literature. Myofibroblasts and spindle cells are predominantly found in this benign lesion. These cells are also commonly found in many lesions due to which great difficulty can be encountered in the diagnosis. A rare case of the intraosseous variety of an infantile myofibroma of the mandible diagnosed in a 10-month-old child has been reported. The tumor was completely excised via an intraoral approach and no recurrence has been noted 15 months postoperatively. A brief review of the differential diagnosis of this lesion in terms of its clinicopathologic, histologic, and immunohistochemical features is also discussed.

Nirvikalpa, Natarajan; Narayanan, Vinod



Rheumatic Diseases and Malignancies  

PubMed Central

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

BOJINCA, Violeta; JANTA, Iustina



Neuroradiological findings (MRS, MRI, SPECT) in infantile neuronal ceroid-lipofuscinosis (infantile CLN1) at different stages of the disease.  


Infantile neuronal ceroid-lipofuscinosis (infantile CLN1) is a progressive and uniformly fatal lysosomal storage disease of the nervous system. The purpose of this study was to compare the findings of various radiological examinations of the brain in the course of infantile CLN1 in order to evaluate the relative usefulness of the methods and their potential for monitoring therapeutic interventions. We examined eight infantile CLN1 patients, 51 studies, in various stages of the disease--preclinical to late stage--with proton magnetic resonance spectroscopy (1H-MRS), MRI, and perfusion SPECT, and in addition three benzodiazepine (BZ) receptor ligand SPECT studies. Both 1H-MRS and MRI showed abnormal findings before clinical manifestations of the disease. Cortical hypoperfusion and loss of cortical BZ receptors revealed by SPECT appeared simultaneously with clinical signs. After the age of 4 years MRI and SPECT alterations progressed minimally, whereas 1H-MRS showed progressive deterioration of neurometabolism. Of the four methods used in this study, MRI proved to be the most practicable for diagnosing infantile CLN1; the final diagnosis of infantile CLN1 is confirmed by the characteristic clinical picture and DNA or PPT enzyme analysis. The combination of 1H- MRS and MRI could be most useful for monitoring therapeutic interventions. PMID:15002049

Vanhanen, S-L; Puranen, J; Autti, T; Raininko, R; Liewendahl, K; Nikkinen, P; Santavuori, P; Suominen, P; Vuori, K; Häkkinen, A-M



Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders.  


Osteopetrosis (OPT) refers to the consequences of generalized failure of skeletal resorption during growth. Most cases are explained by loss-of-function mutation within the genes that encode either chloride channel 7 (CLCN7) or a vacuolar proton pump subunit (TCIRG1), each compromising acid secretion by osteoclasts. Patients suffer fractures and sometimes cranial nerve entrapment and insufficient medullary space for hematopoiesis. In 1996, we reported that a high serum level of the brain isoenzyme of creatine kinase (BB-CK), the CK of osteoclasts, characterizes OPT dueamong the sclerosing bone disorders (J Clin Endocrinol Metab. 1996;11:1438). Now, we show that elevation in serum of multiple lactate dehydrogenase (LDH) isoenzymes with aspartate transaminase (AST) distinguishes autosomal dominant OPT due to loss-of-function mutation in CLCN7 [Albers-Schönberg disease (A-SD)] among these conditions. Serum total LDH and AST levels as high as 3× and 2×, respectively, the upper limits of normal for age-appropriate controls, were persistent and essentially concordant in A-SD. Serum LDH was elevated in 7 of 9 children and in the 2 adults studied with A-SD. LDH isoenzyme quantitation showed excesses of LDH-2, -3, and -4. Neither total LDH nor AST increases were found in other forms of OPT, including bisphosphonate-induced OPT, or in 41 children and 6 adults representing 20 additional sclerosing bone disorders. Serum TRACP-5b and BB-CK also were markedly elevated in A-SD. Hence, high serum levels of several enzymes characterize A-SD. Elevated serum LDH isoenzymes and AST indicate a disturbance (of uncertain clinical significance) within multiple extraosseous tissues when there is CLCN7 deficiency. PMID:20499337

Whyte, Michael P; Kempa, Lydia G; McAlister, William H; Zhang, Fan; Mumm, Steven; Wenkert, Deborah



Malignancy in pregnancy  

Microsoft Academic Search

Malignant disease in pregnancy represents a complex situation with medical and ethical issues. Delayed diagnosis occurs when symptoms are attributed to pregnancy. Once malignancy is diagnosed, gestational age becomes important in further management. Magnetic resonance imaging is safe in pregnancy and can be used for staging purposes. Maternal counselling is of paramount importance in decision-making.

Saadiya Aziz Karim; Mahmood I. Shafi



AIDS-Related Malignancies  

Microsoft Academic Search

OVERVIEW OF MALIGNANCY IN PATIENTS WITH AIDS Despite the advent of highly active antiretroviral therapy, the incidence of human immunodeficiency virus (HIV)-asso- ciated malignancies has not decreased. The United States Centers for Disease Control (CDC) has determined that Kaposi's sarcoma, non-Hodgkin's lymphoma (including pri- mary central nervous system lymphoma), and cervical carci- noma define the acquired immune deficiency syndrome (AIDS).



AIDS and associated malignancies  

Microsoft Academic Search

AIDS associated malignancies (ARL) is a major complication associated with AIDS patients upon immunosuppression. Chronically immunocompromised patients have a markedly increased risk of developing lymphoproliferative disease. In the era of potent antiretrovirals therapy (ARV), the malignant complications due to HIV-1 infection have decreased in developed nations where ARV is administered, but still poses a major problem in developing countries where

Charles WOOD; William HARRINGTON



Screening for Malignant Hyperpyrexia  

Microsoft Academic Search

The methods used to screen patients for malignant hyperpyrexia at present are not sufficiently accurate. This paper reports more specific methods of detecting patients liable to develop malignant hyperpyrexia. A motor-point muscle biopsy is performed for histopathological examination and to detect muscle contracture in vitro after exposure to halothane and suxamethonium.

F. Richard Ellis; Niall P. Keaney; D. G. F. Harriman; D. W. Sumner; K. Kyei-Mensah; J. H. Tyrrell; J. B. Hargreaves; R. K. Parikh; P. L. Mulrooney



Malignant pleural disease  

Microsoft Academic Search

The vast majority of pleural neoplasms invade the pleura secondarily and can be seen in patients with bronchogenic carcinoma, breast cancer, lymphoma, and ovarian or gastric carcinoma. Primary pleural neoplasms are less common, although they have developed notoriety since the up-surge of malignant mesothelioma and the knowledge of its connection to asbestos exposure. Other malignant primary tumors include localized fibrous

Lorenzo Bonomo; Beatrice Feragalli; Rocco Sacco; Biagio Merlino; Maria Luigia Storto



Malignant sinonasal epithelioid schwannoma  

Microsoft Academic Search

Malignant schwannomas are rare neoplasms that are seldom found in the head and neck. Few cases have been reported involving paranasal sinuses and none of them was of the “epithelioid” type, In this report, an unusual case of epithelioid malignant schwannoma involving the maxillary sinus, nasal cavity and orbit is presented. The patient was a 27-year-old male with a history

Pedro L. Fernández; Antonio Cardesa; Josep A. Bombí; Antonio Palacín; Josep Traserra



Radiation Therapy for Malignant Mesothelioma  


... malignant mesothelioma Next Topic Chemotherapy for malignant mesothelioma Radiation therapy for malignant mesothelioma Radiation therapy uses high- ... this form of treatment more useful. Uses of radiation therapy Radiation therapy may be used in different ...


Nucleolar organiser regions in fibrous proliferations of childhood and infantile fibrosarcoma  

Microsoft Academic Search

A silver colloid technique to identify nucleolar organiser region associated protein (AgNOR) was applied to 16 fibrous proliferations of childhood and six low grade fibrosarcomas. The fibrous proliferations comprised five cases of infantile digital fibromatosis, seven of infantile desmoid type fibromatosis, and four of infantile myofibromatosis. The AgNORs were visualised as dots within the nuclei of the cells, and on

M J Egan; F Raafat; J Crocker; K Smith



Benign familial infantile convulsions: phenotypic variability in a family.  


Benign familial infantile convulsion is an autosomal dominant epilepsy syndrome characterized by seizures starting from 3 to 12 months and a favorable outcome. We present a Turkish family with benign familial infantile convulsions and report the clinical variability associated with this syndrome in three generations. All 11 affected members had benign infantile seizures, which were primarily generalized in all but one patient, who had partial seizures with secondary generalization. The seizures started within the first year and were accompanied by normal neurologic development and a good response to treatment with phenobarbital. In this family, the phenotype extended beyond infancy. The index patient had unilateral occipital spike and waves on electroencephalography (EEG), although he had no clinical seizures at 4 years of age. Follow-up EEG of this patient 1 year later showed that the discharges shifted to the occipital lobe of the other hemisphere. The grandmother of this patient had temporal lobe seizures as an adult, years after the remission of infantile convulsions. One of the patients experienced paroxysmal choreoathetosis during adolesence. Our findings highlight the intrafamilial phenotypic variability of benign familial infantile convulsions in a large pedigree with long-term follow-up. PMID:15996407

Demir, Ercan; Turanii, Güzide; Yalntzoglu, Dilek; Topcu, Meral



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.

Blanke, Katja; Dahnert, Ingo; Salameh, Aida



Surgical success rates in infantile esotropia.  


An extensive literature search covering the last 35 years was undertaken to retrieve all English language articles reporting results of surgical management of infantile esotropia. Only 27 of the 48 studies retrieved met the minimum criteria which we established for inclusion in our analysis. The success rate for achieving some level of binocular vision was 22% in 1286 patients, while the overall cosmetic success rate was 63% in 2113 patients. Newer surgical procedures appear to be more effective in achieving cosmetic success. Although controversy still exists about the optimal time for surgery, the most reasonable approach appears to be the concept of performing surgery as soon as an accurate determination can be made of the deviation and associated characteristics, and only after attention has been directed to any accommodative component and treatment of amblyopia. Although approximately 60% of patients referred for surgery can be expected to achieve cosmetic improvement after the first operation, the need for multiple surgery is common. There is a trend toward recurrence of the strabismus, and the need for short interval, long-term optometric follow-up is essential. PMID:2644332

Scheiman, M; Ciner, E; Gallaway, M



Malignancies in Down Syndrome  

Microsoft Academic Search

Down Syndrome (DS) is associated with an increased incidence of malignancies, especially leukaemias. We came across 8 DS children\\u000a presenting with malignancies and having trisomy 21 as the sole cytogenetic abnormality. Of these 8 DS cases, 4 presented with\\u000a acute lymphocytic leukaemia, 2 with acute myeloid leukaemia and one case each with Hodgkin’s disease and Wilms’ tumour. There\\u000a are contradictory

P. Kusumakumary; T. S. Vats; Ravindran Ankathil; H. Rao Gattamaneni; M. Krishnan Nair



Malignant hypertonic hyperpyrexia syndrome  

Microsoft Academic Search

Summary  Two cases of a malignant hypertonic cyanotic hyperpyrexic syndrome which terminated in death are presented. Succinylcholine\\u000a is suggested as the trigger mechanism in each case. Common diagnostic features were: (1) hypertonia, including (a) jaw stiffness\\u000a and (b) subsequent intensive generalized muscle spasm; (2) cyanosis with an accompanying myoglobinuria; (3) malignant hyper-pyrexia;\\u000a and (4) hyperkalaemia. Abnormal jaw stiffness was evident following

James A. Gibson; Douglas M. Gardiner



Malignant Glioma: Chemotherapy Perspective  

Microsoft Academic Search

\\u000a Despite optimal surgery and adjuvant radiotherapy, malignant gliomas almost always recur. One cause of failure is explained\\u000a by the diffusely infiltrating pattern of growth displayed by most gliomas, with malignant cells disseminated far beyond the\\u000a initial bulky tumor. Although most relapses occur at or near the initial site of tumor, either along the resection margin\\u000a or at the edge of

Roger Stupp; J. Gregory Cairncross


Sorafenib Tosylate in Treating Patients With Malignant Mesothelioma.

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



Infantile Spasms: A Critical Review of Emerging Animal Models  

PubMed Central

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

Stafstrom, Carl E



Effect of captopril on infantile haemangiomas: a retrospective case series.  


The mechanism of action of beta adrenergic blockers in the involution of infantile haemangioma (IH) remains unclear. It has been proposed that the renin-angiotensin pathway may play a role. We present a retrospective case series of 17 patients with IH who were treated with oral corticosteroid therapy and developed hypertension requiring treatment with the angiotensin converting enzyme inhibitor, captopril. All patients, with written documentation, demonstrated an improvement in their lesion at the start of oral corticosteroid therapy (n?=?14). Captopril alone did not sustain the corticosteroid-induced involution with a documented worsening of infantile haemangioma in seven out of 12 patients (58%). PMID:22671578

Christou, Elizabeth M; Wargon, Orli



Discharge planning for the child with infantile spasms.  


Infantile spasms is a type of seizure disorder usually occurring within the first 24 months of life. The standard treatment is intramuscular injections of repository corticotropin (HP ACTHAR gel). The child with infantile spasms is at risk for developmental delay, even if the seizures are controlled. The parents' grief reaction to this prognosis may affect their ability to learn and implement the treatment plan. Discharge planning for children and families is extensive and must begin at the time of the child's admission to the hospital. PMID:1697884

Kongelbeck, S R



Rice water in treatment of infantile gastroenteritis.  


In Singapore the World Health Organization's (WHO's) oral electrolyte solution for the treatment of infantile gastroenteritis has been used for 6 years and rice water has been used for 8 years. The rice water is the water used in preparing boiled rice or congee and is a slightly starchy solution. As the impression was that rice water was as effective as or even better than the oral electrolyte solution, a trial was conducted of the 2 solutions in babies with gastroenteritis admitted to the Department of Pediatrics of the National University of Singapore. Alternate cases were assigned consecutively to the oral electrolyte solution or to rice water. There were 63 patients on oral electrolyte and 67 on rice water. Milk was totally withdrawn for 24 hours after admission and the babies were put on 1 or the other oral solution. Intravenous 3.75% glucose and 0.23% saline was given at the same time to babies considered to be more dehydrated. On day 2, quarter strength powdered milk was given, followed by half strength on day 3, three-quarters strength on day 4, and full strength on day 5. Electrolyte and urea values were compared, both for "drip" versus "no drip" within oral treatment groups and between electrolyte solution and rice water groups (20 comparisons altogether). There were only 3 significant differences, and these might be explained by the intravenous drip and by the better water absorption from rice water than from the oral electrolyte solution. The most obvious difference in the 2 groups was in the effect on diarrhea (stools/day). Rice water cut down the number of stools more effectively than did oral electrolyte solution. No patient died, and there were no pathological sequelae in any of the 130 patients. Rice water can be tried as a more practical alternative to oral electrolyte solutions since there are problems with providing oral elecrolyte solutions to all babies with diarrhea in the developing countries and ensuring sterility. PMID:6113434

Wong, H B



Primary Malignant Rhabdoid Melanoma  

PubMed Central

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

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



Malignant pleural disease.  


The vast majority of pleural neoplasms invade the pleura secondarily and can be seen in patients with bronchogenic carcinoma, breast cancer, lymphoma, and ovarian or gastric carcinoma. Primary pleural neoplasms are less common, although they have developed notoriety since the up-surge of malignant mesothelioma and the knowledge of its connection to asbestos exposure. Other malignant primary tumors include localized fibrous tumor and pleural liposarcoma. In most patients with diffuse malignant pleural disease the chest radiograph shows pleural effusion with or without pleural thickening. Computed tomography (CT) usually provides precise localization and extent of the disease and may be of value in assessing chest wall and mediastinal involvement. In specific situations, magnetic resonance (MR) may be useful as a problem-solving tool when CT findings of chest wall or diaphragmatic invasion are equivocal or in patients with contraindication to intravenous administration of ionic contrast material. PMID:10874176

Bonomo, L; Feragalli, B; Sacco, R; Merlino, B; Storto, M L



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.

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



Possible Association of Kingella kingae With Infantile Spondylodiscitis.  


The course of the spondylodiscitis' infantile form is characterized by a mild-to-moderate clinical and biologic inflammatory response. Unfortunately, blood and disk/vertebral aspiration cultures show a high percentage of negative results. However, detecting Kingella kingae DNA in the oropharynx provided reasonable suspicion, to our opinion, that this microorganism is responsible for the spondylodiscitis. PMID:24131988

Ceroni, Dimitri; Belaieff, Wilson; Kanavaki, Akatarina; Llana, Rebecca Anderson Della; Lascombes, Pierre; Dubois-Ferriere, Victor; Dayer, Romain



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



Infantile multicystic encephalomalacia after maternal bee sting anaphylaxis during pregnancy  

Microsoft Academic Search

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

C Erasmus; W Blackwood; J Wilson



Early infantile epileptic encephalopathy with unusual favourable outcome.  


The authors report the case of an infant suffered from early infantile epileptic encephalopathy with suppression-burst, or Ohtahara syndrome, a severe form of epilepsy in early childhood. The patient was treated with vigabatrin causing a favourable response. This unusual outcome may be related with the normality of neuroimaging and metabolic studies, as happens with idiopathic West syndrome cases. PMID:19767162

Cazorla, María Rosario; Verdú, Alfonso; Montes, Carmen; Ayuga, Fernando



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



Pyogenic cocci in infantile eczema throughout one year  

Microsoft Academic Search

To determine the source of pyococci causing attacks of sepsis in infantile eczema 20 patients with continuing eczema were followed up for one year, regular swabs being taken from the skin, nose, throat, and family contacts. The staphylococci were phage typed and the streptococci serologically typed. Staphylococci of the same phage type in most cases remained in reservoir sites on

R J Smith; V G Alder; R P Warin



The Organic Etiology of Infantile Autism: Myth or Fact?  

ERIC Educational Resources Information Center

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

Sanua, Victor D.


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



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



The yield of laboratory investigations in children with infantile autism  

Microsoft Academic Search

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

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



Assay of immune complexes in infantile hydrocephalus among Nigerians  

Microsoft Academic Search

The immune complexes in infantile hydrocephalic CSF in Nigerian children using a laser nephelometer were quantified. The values obtained were relatively low when compared with the serum levels. There was no evidence of selective admixture or of a breakdown of blood-brain-barrier (BBB). The low levels of immune complexes, when associated with implantation of shunt device for treatment of the hydrocephalus,

A. A. Kazeem; S. O. Arigbabu



Causes of infantile autism: Some considerations from recent research  

Microsoft Academic Search

Experimental, clinical, and longitudinal studies of infantile autism are reviewed and the evidence with respect to different views on the causation of the condition is considered. Several independent investigations have shown the presence of a severe, extensive defect in language comprehension, in control functions associated with language, and with the processing of symbolic or sequenced information. Circumstantial evidence suggests that

Michael Rutter; Lawrence Bartak



Infantile fibrosarcoma - an important differential diagnosis of congenital vascular tumors.  


We present the case of a female newborn with life-threatening bleeding of a ruptured infantile fibrosarcoma (IFS) and consecutive multiorgan dysfunction syndrome shortly after birth. After stabilization, the tumor could be treated without amputation due to surgery, laser therapy, and chemotherapy. The patient is free of tumor and doing functionally well after 4 years of follow-up. PMID:22812410

Kerl, Kornelius; Nowacki, Meike; Leuschner, Ivo; Masjosthusmann, Katja; Frühwald, Michael C



Congenital-infantile fibrosarcoma: imaging features and differential diagnoses  

Microsoft Academic Search

Congenital-infantile fibrosarcoma is a rare tumor presenting at birth or in the neonatal period. Few such tumors have been reported, and imaging details in particular are scant.We report a case of a congenital fibrosarcoma that was initially confused with a hemangioma because of its appearance on ultrasonography and computed tomography.

Elkhalil Alymlahi; Rachida Dafiri



Immunotherapy of Genitourinary Malignancies  

PubMed Central

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

Inamoto, Teruo; Azuma, Haruhito



Desmoplastic malignant mesothelioma.  


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

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



Umbilical Complications of Malignancy  

Microsoft Academic Search

Introduction  Cancer patients may manifest a variety of intraabdominal complications occurring during various phases of their illness; however,\\u000a little in the literature exists regarding umbilical abnormalities in this population.\\u000a \\u000a \\u000a \\u000a Discussion  Umbilical metastases (Sister Mary Joseph’s sign) are the most common malignant complication involving the umbilicus and may\\u000a be the presenting manifestation of visceral malignancy. Cancer patients may occasionally experience periumbilical ecchymosis\\u000a (Cullen’s

Mark A. Marinella



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



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



Malignant adnexal neoplasms  

Microsoft Academic Search

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

A Neil Crowson; Cynthia M Magro; Martin C Mihm



Postirradiation malignant fibrous histiocytoma  

SciTech Connect

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

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



Liver Transplantation for Malignancy  

Microsoft Academic Search

Liver transplantation for hepatic malignancies has emerged from an exotic and desperate approach to a well- documented and proven treatment modality for these unfortunate patients. However, early unsatisfactory results emphasized that only a highly selected patient population would benefit from transplantation. Currently, <10% of all liver transplants performed are for hepatocellular cancer (HCC). There is no controversy that hepatoblastoma is



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.



Neuroleptic malignant syndrome  

Microsoft Academic Search

Sirs: We report a patient who developed neuroleptic malignant syndrome (NMS) and elevated serum amylase and lipase levels. A 50-year-old man was admitted because of a 2-week history of unsteady gait, generalized tremor and altered consciousness. Two years earlier, the patient had begun treatment with twice daily doses of trihexyphenidyl Hcl 4 mg and haloperidol decanoate 50 mg once monthly

Tsong-Hai Lee; Lok-Ming Tang



Procaine in Malignant Hyperpyrexia  

Microsoft Academic Search

The caffeine contracture of normal human muscle, which has been used as a model for malignant hyperpyrexia, is greatly potentiated by halothane. Prior administration of procaine markedly reduces the halothane-potentiated caffeine contracture, and procaine given at the height of the contracture induces relaxation. Lignocaine, on the other hand, produces a variable response and sometimes increases the contracture.The muscle from a

R. F. W. Moulds; M. A. Denborough



Treatment of infantile spasms: emerging insights from clinical and basic science perspectives.  


Infantile spasms is an epileptic encephalopathy of early infancy with specific clinical and electroencephalographic (EEG) features, limited treatment options, and a poor prognosis. Efforts to develop improved treatment options have been hindered by the lack of experimental models in which to test prospective therapies. The neuropeptide adrenocorticotropic hormone (ACTH) is effective in many cases of infantile spasms, although its mechanism(s) of action is unknown. This review describes the emerging candidate mechanisms that can underlie the therapeutic effects of ACTH in infantile spasms. These mechanisms can ultimately help to improve understanding and treatment of the disease. An overview of current treatments of infantile spasms, novel conceptual and experimental approaches to infantile spasms treatment, and a perspective on remaining clinical challenges and current research questions are presented here. This summary derives from a meeting of specialists in infantile spasms clinical care and research held in New York City on June 14, 2010. PMID:21719797

Stafstrom, Carl E; Arnason, Barry G W; Baram, Tallie Z; Catania, Anna; Cortez, Miguel A; Glauser, Tracy A; Pranzatelli, Michael R; Riikonen, Raili; Rogawski, Michael A; Shinnar, Shlomo; Swann, John W



Lymphoscintigraphy in malignant melanoma  

SciTech Connect

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

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



Microbiome and Malignancy  

PubMed Central

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

Plottel, Claudia S.; Blaser, Martin J.



Autosomal recessive (infantile) polycystic kidney disease demonstrated by Tc-99m DMSA renal imaging.  


A neonate with infantile polycystic kidney disease underwent Tc-99m DMSA imaging. The pattern of uptake in infantile polycystic disease is different from the multiple cystic lesions reported in the literature for adult polycystic kidney disease. The infantile pattern of uptake shows large kidneys with diffuse, symmetric localization of the radiopharmaceutical, which seems to be characteristic and may be pathognomonic of the disease process. PMID:1661219

Tracey, K P; Jen, H; Metcalfe, J B; McEwan, A J



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

Microsoft Academic Search

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

H. H. Fudenberg



Primary congenital infantile fibrosarcoma of the heart: the first confirmed case.  


We believe this case represents the first confirmed congenital infantile fibrosarcoma (CIFS) of the heart. We describe an infant with congenital infantile fibrosarcoma of the heart who was treated with chemotherapy and who had a life-threatening complication develop that was successfully corrected by surgery. This demonstrates an unusual presentation, remarkable imaging, and diagnostic and treatment dilemmas. More significantly, this emphasizes the importance of a multidisciplinary approach for successful treatment of congenital infantile fibrosarcoma. PMID:21440163

Kogon, Brian; Shehata, Bahig; Katzenstein, Howard; Samai, Cyrus; Mahle, William; Maher, Kevin; Olson, Thomas



Schistosomiasis and malignancy.  


It is generally accepted that schistosomiasis, if not causative, is at least associated with malignancy. In this review, the epidemiology of schistosomiasis and bladder carcinoma, as well as the role of chronic bladder infection, are discussed together with known carcinogenic factors, possible abnormal vitamin metabolism and/or deficiencies and factors that influence conjugated carcinogens. Experimental evidence is briefly examined and recent work from the Far East on schistosomiasis and colon carcinoma reviewed. PMID:7974044

Lemmer, L B; Fripp, P J



Treatment of Malignant Ascites  

Microsoft Academic Search

Opinion statement  The management of malignant ascites is a significant challenge in gastrointestinal medical oncology. Current treatment strategies\\u000a include diuretic therapy, paracentesis, peritoneal drains, and venous shunts. However, there are no established evidence-based\\u000a guidelines, and there is a lack of randomized controlled trials identifying optimal therapy. Newer therapies are emerging\\u000a and will need further study. By summarizing published studies, this review

Michael Chung; Peter Kozuch



Other Malignant Disorders  

Microsoft Academic Search

Malignant disorders of the sternocostoclavicular region include a diverse group of lesions with a wide variety of histological\\u000a lineages. Evaluation of tumours usually includes conventional chest radiography to detect and localise the lesions, CT or\\u000a MRI to further characterise the tumour and define its extent, and investigation of anato-metabolic correlation by FDG PET\\/CT.\\u000a Although the majority of these tumours have

Ukihide Tateishi; Umio Yamaguchi; Mototaka Miyake; Tetsuo Maeda; Hirokazu Chuman; Yasuaki Arai


[Malignant odontogenic tumors].  


Malignant odontogenic tumors are extremely rare. As with benign odontogenic tumors, malignant epithelial odontogenic tumors or odontogenic carcinomas are distinguished from the even rarer mesenchymal ones, the odontogenic sarcomas. The existence of odontogenic carcinosarcomas is not yet acknowledged by the World Health Organization. Odontogenic carcinomas comprise ameloblastic carcinoma (AmCa), primary intraosseous carcinoma (PIOC), clear cell odontogenic carcinoma, odontogenic ghost cell carcinoma (OGCC), and the special case of metastasizing ameloblastoma. Odontogenic sarcomas consist of ameloblastic fibrosarcoma and ameloblastic fibrodentinosarcoma and fibroodontosarcoma. Whereas metastasizing ameloblastoma can be diagnosed only after having metastasized, all other malignant odontogenic tumors present with atypia, increased cellularity and mitoses, and invasion. Odontogenic sarcomas are regarded as low-grade tumors that rarely metastasize. Odontogenic carcinomas, however, especially AmCa, OGCC, and PIOC, are more aggressive, with a 5-year survival rate of about 70% for AmCa and OGCC and a 3-year survival rate of about 37% for PIOC. Radical surgery, eventually in combination with radiotherapy, is the treatment of choice. PMID:18392827

Jundt, G; Reichart, P A



Asbestos-related malignancy  

SciTech Connect

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

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



Malignant mesothelioma in women.  

PubMed Central

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

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



Desmoplastic non-infantile ganglioglioma in late adulthood.  


Desmoplastic infantile ganglioglioma (DIG) is an uncommon supratentorial neuroepithelial brain tumor that typically occurs in infants younger than 24 months. Desmoplastic non-infantile ganglioglioma (DNIG) is a rare variant of this intracranial neoplasm. There are only 16 DNIG cases reported in the literature, with all patients under the age of 25 at the time of presentation. These DIG and DNIG cases were radiologically and histologically similar, with good outcome after treatment. Despite the size and high mitotic index for patients with DNIG, the prognosis is generally favorable and gross total resection is sufficient. We present a case of a 59-year-old woman with a DNIG. To the best of our knowledge, this is the first case reported of DNIG in late adulthood. Clinical presentation, histological and radiological findings are discussed. PMID:20857318

Rangel-Castilla, Leonardo; Kew, Yvonne; Powell, Suzanne; Zhang, Yi Jonathan



[Malignant extraconal tumors of the orbit in childhood].  


Malignant extraconal orbital tumors are very rare during childhood and must be referred as soon as possible to a highly specialized center to be managed by a multidisciplinary team. They are often referred on an emergency basis. Both diagnosis and treatment must be undertaken as soon as possible. The course of these malignant tumors can be acute and can jeopardize the function of the eye or be life-threatening, especially in the event of metastatic locations. Extra-axial proptosis is by far the most frequent revealing symptom. Local and general examinations are of utmost importance. Sometimes diagnosis should be clear with the association of an orbital tumor and deterioration of the general health status favoring metastatic disease. Most metastatic neuroblastomas present such clinical symptoms in young children. Today both CT and MRI are highly valuable in assessing the diagnosis and starting the management of these tumors. Biopsy is mandatory to confirm the diagnosis. It can be reinforced by molecular biology. Among the primitive tumors, soft tissue sarcomas, especially rhabdomyosarcomas, are the most frequent. The diagnosis is suggested when the onset of the disease is acute and the course is rapid. Most respond to neoadjuvant chemotherapy. In the event of a residual tumor, local treatment is indicated so that surgery and/or radiotherapy are used as second-line treatment. Prognosis is closely related to histology. It can be satisfactory (Langerhans' cell histiocytosis, lymphoma, meningioma, infantile fibrosarcoma) or poor (metastatic tumor, rhabdoid tumor). PMID:20303550

Chastagner, P



CRIM-negative infantile Pompe disease: 42-month treatment outcome  

Microsoft Academic Search

Pompe disease is a rare lysosomal glycogen storage disorder characterized by deficiency of acid ?-glucosidase enzyme (GAA)\\u000a and caused by mutations in the GAA gene. Infantile-type Pompe disease is a multiorgan disorder presenting with cardiomyopathy, hypotonia, and muscular weakness,\\u000a which is usually fatal. Enzyme replacement therapy (ERT) with recombinant human GAA (rhGAA) has recently been shown to be\\u000a effective and

Marianne Rohrbach; Andrea Klein; Alice Köhli-Wiesner; Dorothe Veraguth; Ianina Scheer; Christian Balmer; Roger Lauener; Matthias R. Baumgartner



Diagnosing Infantile Anorexia: The Observation of Mother-Infant Interactions  

Microsoft Academic Search

ObjectiveThis study has three objectives: (1) to delineate the diagnostic criteria for infantile anorexia, including the onset of persistent food refusal during the infant's transition to spoon- and self-feeding, acute and\\/or chronic malnutrition, parental concern about the infant's poor food intake, and mother-infant conflict, talk, and distraction during feeding; (2) to determine the interrater agreement of child psychiatrists when diagnosing




Oropharyngeal Dysphagia in Infants and Children with Infantile Pompe Disease  

Microsoft Academic Search

Pompe disease is a rare genetic progressive neuromuscular disorder. The most severe form, infantile Pompe disease, has historically\\u000a resulted in early mortality, most commonly due to cardiorespiratory failure. Treatment with enzyme replacement therapy (ERT)\\u000a using alglucosidase alfa (Myozyme®) has extended the lifespan of individuals with this disease. With the introduction of ERT and the resultant improved survival,\\u000a dysphagia is being

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



Slipped capital femoral epiphysis following contralateral infantile Blount's disease  

Microsoft Academic Search

.  ?Slipped capital femoral epiphysis (SCFE) and Blount's disease are reported to have a common etiology, but there is only one\\u000a report describing two cases in which adolescent Blount's disease coexisted with SCFE. In this article, we describe a case\\u000a of SCFE following contralateral infantile Blount's disease in an 11-year-old boy. This report is the first known case of SCFE\\u000a associated

Kazuharu Takikawa; Nobuhiko Haga



Idiopathic infantile arterial calcification with survival to adult life  

Microsoft Academic Search

Summary  Moran, in an excellent review [9], defined idiopathic infantile arterial calcification as a rare disorder of undetermined\\u000a etiology, characterized by deposition of calcific material along the internal elastic membrane of large, medium, and small\\u000a arteries. Fibrous proliferation in the intima occurs and the arterial lumen is narrowed. The constellation of affected tissues\\u000a varies but the coronary arteries are almost always

Pran K. Marrott; Ken D. Newcombe; David M. O. Becroft; Denis H. Friedlander



New insights into the pathogenesis of infantile pyloric stenosis  

Microsoft Academic Search

Infantile hypertrophic pyloric stenosis (IHPS) is the most common surgical cause of vomiting in infants. Despite numerous\\u000a hypotheses, the aetiopathogenesis of IHPS is not fully understood. Genetic, extrinsic and hormonal factors have been implicated\\u000a in the pathogenesis of the disease. Furthermore, abnormalities of various components of the pyloric muscle such as smooth\\u000a muscle cells, growth factors, extracellular matrix elements, nerve

Christina Panteli



Primary giant congential infantile fibrosarcoma of the scalp  

Microsoft Academic Search

Case report  A primary giant infantile fibrosarcoma of the scalp in a 6-month-old boy is reported. He presented with a rapidly enlarging right paramedian parietal scalp swelling since birth. There were no signs of raised intracranial tension. Magnetic resonance (MR) imaging of the brain revealed a large vascular scalp tumor extending over the posterior frontal and parietal region bilaterally crossing the

Dattatraya Muzumdar; Jean Michaud; Enrique C. G. Ventureyra



Infantile fibrosarcoma: Complete excision is the appropriate treatment  

Microsoft Academic Search

Background: Infantile fibrosarcoma and its pathological variants are unusual childhood tumors. During the past 25 years, 18 children with these lesions were seen at our institution.\\u000aMethods: These patients' records were analyzed to determine clinical and pathological findings and outcome.\\u000aResults: The mean age at diagnosis was 7 months. There were 16 boys and 2 girls. The sites of tumor

Barry R. Cofer; Peter J. Vescio; Eugene S. Wiener



Cardiac metastasis and hypertrophic osteoarthropathy in recurrent infantile fibrosarcoma.  


Cardiac metastasis and hypertrophic osteoarthropathy are both quite rare. We describe a patient presenting with hypertrophic osteoarthropathy as the first symptom of recurrent infantile fibrosarcoma (IF). During surgical resection of lung metastasis, the patient suffered sudden cardiac arrest. Autopsy demonstrated a metastatic lesion in the intraventricular septum of the heart, which is previously undescribed in the literature. This case demonstrates that IF can be aggressive despite its more typical benign course. PMID:21853519

Shah, Nirali N; Price, Mitchell R; Loeb, David M



Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis  

SciTech Connect

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

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



Solitary infantile myofibromatosis of the cranial vault: case report.  


Infantile myofibromatosis is a mesenchymal disorder of early childhood characterized by the formation of tumors in the skin, muscle, viscera, bone, and subcutaneous tissue. Although relatively rare overall, it represents the most common fibrous tumor of infancy. The etiology of this disorder is unknown. Infantile myofibromatosis can present as a solitary or multicentric form. With the multicentric form, bone is often involved, but solitary bone lesions account for only 10% of the cases. Imaging findings are not pathognomonic, and the differential diagnosis usually includes eosinophilic granuloma (Langerhans cell histiocytosis), osteomyelitis, metastasis, osteoblastoma, epidermoid cyst, hemangioma, fibrous dysplasia, fibrosarcoma, and meningioma. A histological pattern is typical, but there are no histopathological differences between the solitary and multicentric forms. Solitary lesions generally have a favorable prognosis if totally removed, with a 10% recurrence rate; incompletely resected lesions recur. We report the case of a 9-year-old boy who came to our attention with a solitary infantile myofibroma of the calvarium, appearing as a tight-elastic, lightly tender mass in the left frontal area, eroding both the inner and the outer tables. Histopathologically, the specimens showed a spindle-cell tumor with dense reticulin fiber network and expression of smooth muscle actin. Fifty-eight months MR follow-up after total removal showed no residual or relapse. PMID:21279363

Merciadri, Paolo; Pavanello, Marco; Nozza, Paolo; Consales, Alessandro; Ravegnani, Giuseppe Marcello; Piatelli, Gianluca; Gandolfo, Carlo; Cama, Armando



[Uncommon variants of malignant melanocytic neoplasms].  


Benign and malignant melanocytic neoplasms are relatively frequent and show a broad morphological heterogeneity. The spectrum of malignant melanomas comprises the four main types, superficial spreading malignant melanoma, nodular malignant melanoma, lentigo-maligna melanoma and acrolentiginous malignant melanoma. In addition the rare spitzoid malignant melanoma, desmoplastic malignant melanoma as well as some unusual variants of malignant melanoma can be distinguished. The latter include nevoid malignant melanoma, a form of malignant melanoma resembling benign melanocytic nevi, animal type malignant melanoma, an atypical melanocytic neoplasm with numerous melanophages and prominent melanosis resembling an atypical epithelioid blue naevus as well as regressive malignant melanoma, and representing a questionably distinct entity, balloon cell and signet-ring malignant melanomas, melanoma types with degenerative clear cell changes, as well as myxoid and osteogenic malignant melanomas that are characterized by unusual stromal changes. PMID:17846776

Mentzel, T



Malignant hyperthermia and pediatric urology.  


The malignant hyperthermia syndrome is a rare drug-induced hypermetabolic syndrome characterized by muscular rigidity, hyperpyrexia and systemic acidosis. Malignant hyperthermia developed in 2 boys during anesthesia for hypospadias repair and both had a favorable outcome. Recognition of the early signs and symptoms of malignant hyperthermia, and prompt treatment using dantrolene sodium require an increased index of suspicion and familiarity with this symptom complex, which has an increased incidence in children. PMID:3944913

Sipio, J C; Bellinger, M F



Propranolol is more effective than pulsed dye laser and cryosurgery for infantile hemangiomas.  


Propranolol hydrochloride is a nonselective ?-blocker that is used for the treatment of hypertension, arrhythmia, and angina pectoris. In Japan, it was recently approved for the treatment of childhood arrhythmia. It has been observed to produce drastic involution of infantile hemangiomas. The aim of this prospective study was to examine propranolol's superiority to classical therapy with pulsed dye laser and/or cryosurgery in treating proliferating infantile hemangiomas. Fifteen patients between the ages of 1 and 4 months with proliferating infantile hemangiomas received grinded propranolol tablets 2 mg/kg per day divided in three doses. Twelve patients with proliferating infantile hemangiomas receiving pulsed dye laser and/or cryosurgery were enrolled as controls. Baseline electrocardiogram, echocardiogram, and chest x-ray were performed. Monitoring of heart rate, blood pressure, and blood glucose was performed every 2 weeks. Efficacy was assessed by performing blinded volume measurements and taking photographs at every visit. Propranolol induced significantly earlier involution and redness reduction of infantile hemangiomas, compared to pulsed dye laser and cryosurgery. Adverse effects such as hypoglycemia, hypotension, or bradycardia did not occur. Conclusion: The dramatic response of infantile hemangiomas to propranolol and few side effects suggest that early treatment of infantile hemangiomas could result in decreased disfigurement. Propranolol should be considered as a first-line treatment of infantile hemangiomas. PMID:23812512

Kagami, Shinji; Kuwano, Yoshihiro; Shibata, Sayaka; Uwajima, Yuta; Yamada, Daisuke; Miyamoto, Akie; Miyagawa, Takuya; Araki, Mayuko; Takahashi, Kohji; Isomura, Sayako; Aozasa, Naohiko; Masui, Yuri; Yamamoto, Mizuho; Inuzuka, Ryo; Katori, Tatsuo; Sato, Shinichi



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

Microsoft Academic Search

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

Z Borochowitz; B Glick; S Blazer



Early infantile Krabbe disease: deceptively normal magnetic resonance imaging and serial neurophysiological studies  

Microsoft Academic Search

Early infantile Krabbe disease is a progressive neurodegenerative disease caused by deficiency of lysosomal enzyme galactocerebroside ?-galactosidase, with onset before the age of 6 months. We present serial clinical, radiological and neurophysiological findings of a patient with early infantile Krabbe disease, presenting at the third day of life with hypotonia, macrocephaly and neonatal seizures. The patient had a deceptively normal

Dimitrios I Zafeiriou; Athanasia L Anastasiou; Eleni M Michelakaki; Persa A Augoustidou-Savvopoulou; George S Katzos; Eleftherios E Kontopoulos



Microscopic Cortical Dysplasia in Infantile Spasms: Evolution of White Matter Abnormalities  

Microsoft Academic Search

PURPOSE: To determine whether microscopic cortical lamination defects in patients with infantile spasms, not initially identifiable on MR, may be inferred from evolving changes in the adjacent white matter. METHODS: Three infants between 3 and 6 months of age presented with infantile spasms. Based on negative metabolic assessment and normal MR findings, they were classified as cryptogenic. Despite therapy the

Raman Sankar; John G. Curran; John W. Kevill; Pertti J. Rintahaka; D. Alan Shewmon; Harry V. Vinters


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

Microsoft Academic Search

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

Suvasini Sharma; Naveen Sankhyan; Sheffali Gulati; Anuja Agarwala


Effects of infantile food and water deprivation on adult hoarding in the rat  

Microsoft Academic Search

After a critical review of previous work on infantile deprivation and hoarding an experimental test of the hypothesis that infantile deprivation increases adult hoarding is described. Experimental groups were given 15 days of food or water deprivation immediately after weaning and were tested for hoarding at 130 days of age in comparison with a matched control group. Amount, preference and

Robert K. McKelvey; Melvin H. Marx



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

Microsoft Academic Search

In 2 adults who had received thorotrast intravenously at ages 2 and 3 years, respectively, radiopaque outlines of their infantile vertebrae were seen in the adult vertebrae. Similar ghosts of the hemipelves were present in the pelvis of 1 patient. Autopsy findings and autoradiographs in 1 patient strongly suggest that persisting thorotrast deposits in the infantile vertebrae and pelvis have

J. G. Teplick; G. L. Head; M. E. Kricun; M. E. Hasin



Infantile rhabdomyofibrosarcoma: a distinct variant or a missing link between fibrosarcoma and rhabdomyosarcoma?  


Infantile rhabdomyofibrosarcoma (IRMFS) is a rare soft tissue tumour affecting infants and young children. It occupies an intermediate position between infantile fibrosarcoma and spindle cell rhabdomyosarcoma in its clinical presentation, behaviour, morphology, immunohistochemical and ultrastructural features. This case is reported here to reiterate its occurrence as tumour with distinct morphological immunohistochemical and clinical behavioral patterns. PMID:16763362

Rao, Satish I; Uppin, Shantveer G; Ratnakar, K S; Sundaram, C; Senthil, Rajappa P


A newborn with infantile fibrosarcoma of foot: treatment with chemotherapy and extremity-sparing surgery.  


Infantile fibrosarcoma represents less than 1% of all childhood cancers, but it is the most common soft-tissue sarcoma in those under 1 year of age. We report an infant with congenital infantile fibrosarcoma diagnosed as hemangiopericytoma. He was treated with chemotherapy and extremity-sparing surgery. Amputation was avoided. PMID:20038940

Akyüz, C; Sari, N; Vargel, I; Gedikoglu, G; Haliloglu, M; Büyükpamukçu, M



A newborn with infantile fibrosarcoma of foot: treatment with chemotherapy and extremity-sparing surgery  

Microsoft Academic Search

Infantile fibrosarcoma represents less than 1% of all childhood cancers, but it is the most common soft-tissue sarcoma in those under 1 year of age. We report an infant with congenital infantile fibrosarcoma diagnosed as hemangiopericytoma. He was treated with chemotherapy and extremity-sparing surgery. Amputation was avoided.

C Akyüz; N Sari; ? Vargel; G Gedikoglu; M Haliloglu; M Büyükpamukçu



Prostate Metastasis of Malignant Melanoma  

PubMed Central

Metastatic malignant melanoma of the prostate is extremely rare in clinical practice, and only one case has been reported in the English literature in the past 30 years. We report a case of malignant melanoma that metastasized to the prostate and review the current literature. A 50-year-old man with a history of malignant melanoma metastasis to the left axilla, which was excised 3 years ago, presented with lower urinary tract symptoms and gross hematuria. He underwent cystoscopy and transurethral resection of the prostate. The pathological examination showed metastatic malignant melanoma of the prostate gland. The patient died 6 months after the transurethral resection.

Selimoglu, Ahmet; Horuz, Rahim; Akca, Oktay; Albayrak, Selami



Prostate metastasis of malignant melanoma.  


Metastatic malignant melanoma of the prostate is extremely rare in clinical practice, and only one case has been reported in the English literature in the past 30 years. We report a case of malignant melanoma that metastasized to the prostate and review the current literature. A 50-year-old man with a history of malignant melanoma metastasis to the left axilla, which was excised 3 years ago, presented with lower urinary tract symptoms and gross hematuria. He underwent cystoscopy and transurethral resection of the prostate. The pathological examination showed metastatic malignant melanoma of the prostate gland. The patient died 6 months after the transurethral resection. PMID:23878694

Balaban, Muhsin; Selimoglu, Ahmet; Horuz, Rahim; Akca, Oktay; Albayrak, Selami



The current evaluation and treatment of infantile spasms among members of the Child Neurology Society.  


The optimal evaluation and treatment of children with infantile spasms is unknown. To aid in the development of a standardized approach to infantile spasms, members of the Child Neurology Society were surveyed to determine common practice. The survey had 222 responders with a responder rate of 18.5%. We found that the diagnostic evaluation and the use of first-line treatments varied among responders. For example, although adrenocorticotropic hormone continues to be the most commonly used first-line treatment for infantile spasms not due to tuberous sclerosis, some clinicians use corticosteroids, vigabatrin, and topiramate as first-line treatments for this group. Seventy percent of our responders reported seeing fewer than 10 new-onset cases of infantile spasms per year. Thus, future clinical trials will require multicenter collaboration. An important first step in such collaboration is to standardize the evaluation and treatment of infantile spasms within and between participating centers. PMID:22914371

Mytinger, John R; Joshi, Sucheta



Recessive mechanisms of malignancy.  

PubMed Central

It is increasingly recognised that recessive mutations play an important role in the pathogenesis of many forms of malignancy. Some of the affected loci may prove to be recessively-activated proto-oncogenes, but others are now known to be tumorigenic solely by virtue of their loss or inactivation and therefore form a distinct and novel family of tumour genes. Preliminary evidence suggests that such genes are likely to be functionally heterogeneous and to encode molecules involved in the inhibition of cellular proliferation and/or the induction of differentiation. Their further study is likely to illuminate fundamental mechanisms of normal cellular growth and differentiation as well as having important implications for the pathogenesis and management of cancer.

Green, A. R.



Helicobacter and Gastric Malignancies  

PubMed Central

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

Ferreira, Antonio Carlos; Isomoto, Hajime; Moriyama, Masatsugu; Fujioka, Toshio; Machado, Jose Carlos; Yamaoka, Yoshio



Temozolomide in malignant glioma  

PubMed Central

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

Dresemann, Gregor



Malignant transformation in bone lipomas  

Microsoft Academic Search

This report presents four cases of presumed malignant transformation within intraosseous lipomas, one occurring in a stage I lesion and three in stage III lesions, according to my classification. These lesions demonstrated radiologic and histologic features of benign lipomas together with histologic fields of either malignant fibrous histiocytoma or liposarcoma. In two of the three patients who were followed up,

James W. Milgram



Spontaneous Clostridial Infection and Malignancy  

Microsoft Academic Search

Clostridia are common, usually harmless organisms of the normal gastrointestinal tract. However, in patients with malignancy these bacteria may become pathogenic, producing clostridial sepsis sometimes associated with generalized gas gangrene. The organisms presumably can become invasive in these patients because the host immune defenses are impaired by the malignancy and its therapy. Five cases are presented to illustrate the clinical

Morton I. Burrell; Eric A. Hyson; G. J. Walker Smith


Infantile encephalopathy due to vitamin deficiency in industrial countries  

Microsoft Academic Search

Introduction  Severe avitaminosis causing life-threatening conditions in the infantile age group is extremely uncommon and has been reported\\u000a in babies with malabsorption receiving prolonged inadequate vitamin supplements.\\u000a \\u000a \\u000a \\u000a Case reports  We report two infants who presented with neurological deterioration. Immediate work-up and treatment for infectious and inborn\\u000a metabolic disorders were initiated and the diagnosis, made with a few days delay, was prolonged avitaminosis

Ibrahim Abu-Kishk; Marianna Rachmiel; Chen Hoffmann; Eli Lahat; Gideon Eshel



Management of infantile hemangiomas : current and potential pharmacotherapeutic approaches.  


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

Craiglow, Brittany G; Antaya, Richard J



Estrogen production by fetal and infantile rat ovaries.  


The de novo production of estrone and estradiol by the fetal and infantile rat ovary and its regulation by cAMP, LH and FSH were investigated. Basal estrogen secretion was not demonstrable before d 5 after birth. However, the fetal ovary was responsive to cAMP as early as 14 d old. Estrone was the main estrogen secreted. Steroid aromatase inhibitors inhibited cAMP-stimulated estrone secretion. Responsiveness to LH and FSH appeared at 5 d after birth. The proportion of estradiol grew more important with advancing age, becoming predominant at 7 d. PMID:8395854

Weniger, J P; Zeis, A; Chouraqui, J



Infantile hypertrophic pyloric stenosis: where should it be treated?  

PubMed Central

A retrospective analysis in the form of an audit into the management of infantile hypertrophic pyloric stenosis in a district general hospital has revealed that the results are equivalent to that of published data from specialised units. It is stressed in this study that close co-operation has to be maintained between paediatricians and surgeons in the care of these infants. The diagnosis can be made on clinical grounds in the majority of cases. The operation has to be carried out by experienced surgeons and anaesthetists. The morbidity can be minimised under these circumstances and pyloromyotomy can be performed safely in a district general hospital.

Jahangiri, M.; Osborne, M. J.; Jayatunga, A. P.; Bradley, J. W.; Mitchenere, P.



Recent results of treatment of infantile hypertrophic pyloric stenosis.  

PubMed Central

During the five year period December 1980 to November 1985, 106 infants with hypertrophic pyloric stenosis were treated. There were no operative deaths, but two late deaths occurred from associated abnormalities. The combination of preoperative rehydration, skilled anaesthesia, and the use of the Fredet-Ramstedt operation (pyloromyotomy) have virtually eliminated mortality from uncomplicated infantile hypertrophic pyloric stenosis. The most common complications were gastro-oesophageal reflux in 11 (11%), perforation of the duodenal fornix in nine (8%), and wound infection in five (5%); no wound dehisced.

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



Assay of immune complexes in infantile hydrocephalus among Nigerians.  


The immune complexes in infantile hydrocephalic CSF in Nigerian children using a laser nephelometer were quantified. The values obtained were relatively low when compared with the serum levels. There was no evidence of selective admixture or of a breakdown of blood-brain-barrier (BBB). The low levels of immune complexes, when associated with implantation of shunt device for treatment of the hydrocephalus, may be a predisposing factor that can lead to overwhelming infection among this group of patients in a developing country like Nigeria. Between the hydrocephalic fluid and lumbar CSF, an IgG gradient was found. PMID:3791284

Kazeem, A A; Arigbabu, S O



An unusual presentation of infantile fibrosarcoma in a male newborn.  


We describe a 10-day-old male presenting with drop foot and immobility in his right leg; no abnormality in physical examination had been found upon delivery or discharge. Magnetic resonance imaging showed a pelvic mass with an extension to the great sciatic foramen. Fine-needle aspiration biopsy revealed congenital infantile fibrosarcoma. He was started on vincristine, actinomycin-D, cyclophosphamide chemotherapy. However, he died soon after the second cycle due to veno-occlusive disease of the liver. Differential diagnosis of drop foot and immobility in lower extremity must include infiltrating neoplasms in pelvis. PMID:19067284

Gülhan, Bora; Küpeli, Serhan; Yalçin, Bilgehan; Akyüz, Canan; Büyükpamukçu, Münevver



Congenital infantile fibrosarcoma: a clinical mimicker of hemangioma.  


Congenital infantile fibrosarcoma (CIFS) is a rare pediatric soft tissue tumor; clinically, it presents as a highly vascular mass and may simulate a hemangioma. It usually occurs in the first year of life and has a relatively better prognosis compared to other aggressive spindle cell sarcomas of childhood. We report a patient with CIFS who presented with a nonspecific ulcerated mass lesion over the right shoulder region that was clinically diagnosed as a benign vascular lesion. Histology revealed a highly cellular tumor with closely packed fascicles of spindle cells. Immunohistochemically, the tumor cells expressed vimentin. PMID:22474726

Jain, Deepali; Kohli, Kavita



Conflicting actions of parathyroid hormone-related protein and serum calcium as regulators of 25-hydroxyvitamin D3-1-hydroxylase expression in a nude rat model of humoral hypercalcemia of malignancy  

Microsoft Academic Search

In patients with humoral hypercalcemia of malignancy (HHM), serum levels of 1,25-dihydroxyvitamin D (1,25(OH)2D) are generally low, although the pathophysi- ology of the impaired vitamin D metabolism is not fully understood. In the present study, we have investigated vitamin D metabolism in our newly developed rat model of HHM in which a human infantile fibrosarcoma pro- ducing parathyroid hormone-related protein

T Michigami; H Yamato; H Suzuki; Y Nagai-Itagaki; K Sato; K Ozono


Infantile spasms: a U.S. consensus report.  


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

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



Corticosteroids for the treatment of infantile spasms: a systematic review.  


Adrenocorticotropic hormone (ACTH) and corticosteroids are the usual first-line treatment options for infantile spasms. Despite significant differences, these agents are often lumped together in this context. There is a need to systematically explore the efficacy of corticosteroids in the treatment of infantile spasms, especially in comparison to ACTH. This review identified and analyzed corticosteroid clinical trials and summarized their short-term efficacy and tolerability. Primary outcome was cessation of spasms and abolition of hypsarrhythmia on prolonged video electroencephalographic monitoring. Eight corticosteroid clinical trials were found with only 2 fulfilling the criteria for adequate design. The weighted-mean efficacy of corticosteroids to achieve primary outcome was 31% for these 2 methodologically adequate studies. Including reanalyzed data from 3 other studies, the corticosteroid efficacy was found to be 42%. On the basis of the available evidence, the efficacy of high-dose corticosteroids is similar to low-dose ACTH and inferior to high-dose ACTH, the current standard treatment. PMID:22859699

Arya, Ravindra; Shinnar, Shlomo; Glauser, Tracy A



Preliminary Experiences in Treating Infantile Hemangioma With Propranolol.  


The aim of this study was to evaluate the outcome of treating infantile hemangioma with the use of oral propranolol. A total of 27 patients with hemangiomas were treated with oral propranolol therapy. The subjects included 21 females and 6 males whose age ranged between 3 weeks and 7 months. Locations of lesions were as follows: 22 on the face and neck, 3 on the trunk, and 2 on the limbs. The dose of 0.5 mg/kg/d of propranolol was administered; and was gradually doubled to a maximum of 2 mg/kg/d. The treatment lasted for a period of 2.75 to 5.75 months without major complications. Two days later, a change in color was observed in 100% of patients, and 2 weeks later >75% reduction in diameter of the original lesion was found in 25.9% of patients. Treating infantile hemangioma with the use of oral propranolol is effective and reliable. PMID:21629056

Chai, Qiang; Chen, Wei-Liang; Huang, Zhi-Quan; Zhang, Da-Ming; Fan, Song; Wang, Lei



Quality-of-care indicators for infantile spasms.  


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

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



Malignant melanoma (metastatic)  

PubMed Central

Introduction Each year in the UK there are 8100 new cases of malignant melanoma, and 1800 deaths, largely as a result of metastatic disease. The median survival of people with metastatic melanoma is 6-9 months after diagnosis, with 10% of people alive at 5 years. Chemotherapy is given with palliative rather than curative intent for metastatic disease. Methods and outcomes We conducted a systematic review and aimed to answer the following clinical questions: What are the effects of chemotherapy for metastatic melanoma? What are the effects of immunotherapy for metastatic melanoma? We searched: Medline, Embase, The Cochrane Library, and other important databases up to September 2007 (BMJ Clinical Evidence reviews are updated periodically; please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). Results We found 23 systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. Conclusions In this systematic review we present information relating to the effectiveness and safety of the following interventions: adding interferon alfa (with or without interleukin-2) to chemotherapy; dacarbazine; single-agent or combination chemotherapy; supportive palliative care alone or with chemotherapy; and temozolomide.



Catumaxomab: in malignant ascites.  


Catumaxomab is a rat/murine hybrid, trifunctional, bispecific (anti-human epithelial cell adhesion molecule [EpCAM]?×?anti-CD3) monoclonal antibody. Compared with paracentesis alone, paracentesis followed by catumaxomab therapy was associated with significant prolongation of paracentesis-free survival and time to repeat paracentesis in a randomized, open-label, multicentre, pivotal phase II/III trial in patients with recurrent symptomatic malignant ascites due to EpCAM-positive tumours who were resistant to conventional chemotherapy. The benefits of catumaxomab were seen across a broad range of epithelial ovarian and nonovarian cancers, and irrespective of whether or not catumaxomab recipients developed human anti-mouse antibodies. Combining catumaxomab with paracentesis also resulted in more pronounced and prolonged reductions in ascites signs and symptoms and a delayed deterioration in health-related quality of life compared with paracentesis alone. Despite the study not being designed or powered to evaluate overall survival, significant differences favouring the addition of catumaxomab to paracentesis were seen in analyses of the safety population and the subpopulation of patients with gastric cancer. Catumaxomab was generally well tolerated in the pivotal phase II/III trial. The most frequent adverse events attributed to catumaxomab treatment included cytokine-release-related symptoms, which were mostly of mild to moderate severity and manageable with standard symptomatic treatment. PMID:22676343

Frampton, James E



Pathogenesis of malignant mesothelioma.  


Malignant mesothelioma (MM) is a very aggressive tumor that is caused by environmental, biologic, and genetic factors. Among these factors, asbestos plays a major role. The link between asbestos and MM has been firmly established through numerous epidemiologic studies conducted during the past 40 years. However, the causal role of chrysotile asbestos compared with crocidolite asbestos in MM, the method of correctly establishing asbestos exposure, the amount of asbestos necessary to cause MM, and the mechanisms of asbestos tumorigenicity are still being debated. Along with asbestos, Simian virus 40 (SV40), a DNA monkey virus, has recently been implicated in the etiology of MM. Simian virus 40 large T antigen (Tag) and small t antigen (tag) are largely responsible for the carcinogenicity of the virus, and it is possible that SV40 and asbestos are cocarcinogens. Finally, a genetic factor identified in 3 villages in Cappadocia, Turkey, where 50% of individuals die of MM, appears to be the cause of a high incidence of the disease. In these villages, genetic predisposition for MM works together with erionite, a nonasbestos fiber found in the stones used in construction of houses. The diagnosis of MM is made histologically and confirmed through electron microscopy and immunohistochemistry. Currently available therapies for MM prolong survival by a few months at most. An SV40 vaccine is being developed for human use and it is hoped that it may reduce the incidence of MM in asbestos workers. PMID:15117424

Carbone, Michele; Rdzanek, Monica A



[Malignant pleural mesothelioma].  


Malignant pleural mesothelioma continues to be a clinical challenge and its incidence will continue to increase worldwide. Once diagnosed with pleural mesothelioma, patients nearly invariably die of the disease. While the benefit of chemotherapy for advanced disease has been established, many other aspects of treatment continue to be controversial, in particular in regard to surgery and radiotherapy. However, the best survival data is reported from groups using multimodality treatment including surgery for patients qualifying from a tumor stage - and functional perspective. Therefore, efforts should focus on improving staging systems. Translational studies should be included with the final aim of finding reliable markers for response to therapy. Despite both, the increase in basic biologic knowledge and the fact that many new agents have reached various stages of development, the number of new treatments that have been approved for patients has not increased. As mesothelioma is a rare disease, the number of patients is limiting and more innovative trial designs (such as multi-arm multi-stage trials [1]) using cooperative platforms to eliminate less effective treatments may be the best way forward. PMID:22753288

Opitz, I; Weder, W



Ewing's Sarcoma and Second Malignancies  

PubMed Central

Ewing's sarcoma (ES) is a rare tumor that is most common in children and young adults. Late effects of ES therapy include second cancers, a tragic outcome for survivors of such a young age. This paper will explore the frequencies and types of malignancies that occur after ES. Additionally, it will review how second malignancies have changed with the shift in treatment from high-dose radiation to chemotherapy regimens including alkylators and epipodophyllotoxins. The risk of additional cancers in ES survivors will also be compared to survivors of other childhood cancers. Finally, the possible genetic contribution to ES and second malignancies will be discussed.

Schiffman, Joshua D.; Wright, Jennifer



[Antihypertensive drugs and malignant neoplasia].  


Analysis of epidemiological, cohort and randomized studies of antihypertensive drugs containing reports of development of malignant neoplasms shows that long term use of some antihypertensive drugs while preventing cardiovascular complications has been associated with increased risk of malignancies. Most convincing evidence exists for association between the use of diuretics and renal cancer. Association between the use of reserpine and breast cancer in women, between atenolol and some types of cancer in elderly men also can not be ruled out. There is no proof of existence of either negative or positive correlation between malignant neoplasia and long-term use of calcium antagonists, angiotensin converting enzyme inhibitors or angiotensin receptor blockers. PMID:12494152

Preobrazhenski?, D V; Sidorenko, B A; Stetsenko, T M; Kiktev, V G



Genetics Home Reference: Malignant hyperthermia  


... malignant hyperthermia may experience muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), a high fever, increased acid levels in ... in calcium ion concentration inside muscle cells stimulates muscle fibers to contract. Mutations in the RYR1 or CACNA1S ...


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



Laparoscopic Lymphadenectomy for Gynecologic Malignancies  

Microsoft Academic Search

Objective. The purpose of our study was to detail our 5-year experience with laparoscopic lymphadenectomy for gynecologic malignancies.Methods. From 11\\/5\\/92 to 3\\/9\\/98, we performed laparoscopic lymphadenectomies on 94 patients with various gynecologic malignancies. Pelvic, paraaortic, and combinations of both pelvic and paraaortic lymphadenectomies were performed depending on the primary site of disease and indication for lymph node dissection. Data were

Peter R. Dottino; Daniel H. Tobias; AnnMarie Beddoe; Anne L. Golden; Carmel J. Cohen



Effects of infantile and adult shock-trauma upon learning in the adult white rat  

Microsoft Academic Search

Rats given severe traumatizing electrical shock during infancy show more effective escape learning with shock motivation and slower extinction as adults. The effect of the infantile trauma appears restricted to adult traumatic situations.

Alan Baron; Kenneth H. Brookshire; Richard A. Littman




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...


Primary malignant fibrous histiocytoma of the pleura.  


Malignant fibrous histiocytoma, a type of sarcoma, is a malignant neoplasm with uncertain origin that arises in both the soft tissues and the bone. The occurrence of primary malignant fibrous histiocytoma of the pleura is extremely rare. We report a case of a 65-year-old Korean man who is being diagnosed with primary malignant fibrous histiocytoma of the pleura. PMID:23750170

Cho, Kyung-Hwa; Park, Chul; Hwang, Ki-Eun; Hwang, Yu-Ri; Seol, Chang-Hwan; Choi, Keum-Ha; Lee, Mi-Kyung; Choi, Soon-Ho; Kim, Hak-Ryul; Jeong, Eun-Taik



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

PubMed Central

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

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



Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome  

Microsoft Academic Search

Epilepsy and paroxysmal dyskinesia are two episodic cerebral disorders that can share a common genetic basis. Rare families\\u000a with infantile seizures and paroxysmal dyskinesia [predominantly paroxysmal kinesigenic dyskinesia (PKD)], co-inherited as\\u000a a single autosomal dominant trait, have been described (infantile convulsions with paroxysmal choreoathetosis; ICCA syndrome)\\u000a and a disease gene has been mapped at chromosome 16p12-q12 (ICCA region). We report

Jacques Rochette; Patrice Roll; Ying-Hui Fu; Anne Gaëlle Lemoing; Barbara Royer; Agathe Roubertie; Patrick Berquin; Jacques Motte; Sau Wei Wong; Alasdair Hunter; Andrée Robaglia-Schlupp; Louis J. Ptacek; Pierre Szepetowski



Infantile cholestatic jaundice associated with adult-onset type II citrullinemia  

Microsoft Academic Search

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

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



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

Microsoft Academic Search

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

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


Case of infantile onset spinocerebellar ataxia type 5.  


Dominant spinocerebellar ataxias are a rare clinically and genetically heterogeneous group of neurodegenerative disorders. They are characterized by progressive cerebellar ataxia resulting in unsteady gait, clumsiness, dysarthria, and swallowing difficulty. The onset of symptoms is usually in the third or fourth decade of life; however, more subtle clinical manifestations can start in early childhood. Spinocerebellar ataxia type 5, a dominant spinocerebellar ataxia associated with mutations involving ?-III spectrin (SPTBN2), has been described in 3 families. It typically consists of a slowly progressive spinocerebellar ataxia with onset in the third decade. The authors present the first case of infantile-onset spinocerebellar ataxia associated with a novel SPTBN2 mutation (transition C>T at nucleotide position 1438), the proband having a much more severe phenotype with global developmental delay, hypotonia, tremor, nystagmus, and facial myokymia. PMID:22914369

Jacob, Francois-Dominique; Ho, Eugenia S; Martinez-Ojeda, Mayra; Darras, Basil T; Khwaja, Omar S



Infantile bilateral glaucoma in a child with ectodermal dysplasia.  


Ectodermal dysplasia is a rare disease which affects at least two ectodermal-derived structures such as hair, nails, skin, sweat glands and teeth. Approximately 200 different conditions have been classified as an ectodermal dysplasia and X-linked hypohidrotic ectodermal dysplasia (XHED) represents the commonest form. Clinically, XHED is characterized by hypotrichosis, hypohidrosis and hypodontia. A variety of ocular manifestations have been reported in XHED, the most common being dryness of eyes due to tear deficiency and instability of the film secondary to the absence of meibomian gland function. Here we report a child with the distinctive clinical features of XHED confirmed with molecular diagnosis who presented with infantile bilateral glaucoma, in addition to the classical ocular involvement in XHED. PMID:22428923

Callea, Michele; Vinciguerra, Agatino; Willoughby, Colin E; Deroma, Laura; Clarich, Gabriella



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.

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



Comparison of infantile nystagmus syndrome in achiasmatic zebrafish and humans.  


Infantile nystagmus syndrome (INS; formerly called congenital nystagmus) is an ocular motor disorder characterized by several typical nystagmus waveforms. To date, restrictions inherent to human research and the absence of a handy animal model have impeded efforts to identify the underlying mechanism of INS. Displaying INS-like spontaneous eye oscillations, achiasmatic zebrafish belladonna (bel) mutants may provide new insights into the mystery of INS. In this study, we demonstrate that these spontaneous eye oscillations match the diagnostic waveforms of INS. As a result, zebrafish bel mutants can be used as an animal model for the study of INS. In zebrafish bel mutants, visual pathway abnormalities may contribute to the spontaneous nystagmus via an inverted signal to the pretectal area. We hypothesized that human INS may also be linked to visual pathway abnormalities (possibly underdiagnosed in INS patients) in a similar way. PMID:21951006

Huang, Melody Ying-Yu; Chen, Chieng-Cheng; Huber-Reggi, Sabina P; Neuhauss, Stephan C F; Straumann, Dominik



Acute Infantile Encephalopathy Predominantly Affecting The Frontal Lobes (AIEF).  


Acute Infantile Encephalopathy Predominantly Affecting the Frontal Lobes (AIEF) is a relatively recent described entity. This article includes case reports of two patients who had bifrontal involvement during acute febrile encephalopathy. Case 1 describes a 1-y-old boy who presented with hyperpyrexia and dialeptic seizures. Imaging revealed significant bilateral frontal lobe involvement while serology proved presence of Influenza B infection. Over a period of one wk, he recovered with significant cognitive decline and perseveratory behavior. Another 6-y-old boy presented with language and behavioral problems suggestive of frontal dysfunction after recovering from prolonged impairment of consciousness following a convulsive status epilepticus. Bilateral superior frontal lesions with gyral swelling was evident on neuroimaging. These cases are among the very few cases of AIEF described in recent literature and the article also reviews this unique subtype of acute encephalopathy. PMID:22183762

Raha, Sarbani; Udani, Vrajesh



Advances in the adjuvant treatment of infantile fibrosarcoma.  


Infantile fibrosarcoma is a rare soft tissue tumor, predominately affecting young infants. It grows rapidly and is locally infiltrative but rarely metastases. Complete surgical removal is usually curative but is impossible in some patients and would result in significant functional or cosmetic consequences in many others. Neoadjuvant chemotherapy will cause many tumors to shrink significantly, allowing less mutilating surgical resections to be performed--this is the current recommendation where immediate surgical removal cannot be accomplished without unacceptable morbidity. In contrast, there is no defined role for adjuvant chemotherapy or radiation following complete surgical resection. Although there is a significant risk of local recurrence, most of these can be successfully treated with further surgery and the overall survival rate exceeds 90%. PMID:12722878

Ferguson, William S



Diagnostic dilemmas of infantile sarcoma of the forearm.  


The authors present an interesting case of a suckling baby treated for forearm tumour. All the preoperative examinations including the imaging methods are documented, as are the surgical procedures and the final results. The case report is interesting not only because such surgery is infrequent but also due to the unpredictable progress of the final diagnosis statement. Before surgery the tumour was diagnosed as an organising haematoma; based on clinical and radiological signs the diagnosis subsequently rose to rapidly growing haemangioma or vascular malformation causing arm paresis and vascular supply disorder. The diagnosis was changed to angiolipoma during surgery. The final histopathological statement was: infantile fibrosarcoma. Despite the virtue of imaging methods and meticulous clinical examination, the surgical and histopathological findings are not necessarily absolutely identical. Having presented this particular case the authors would like to share their experience. PMID:21110498

Sukop, A; Malis, J; Tvrdek, M; Hyla, P; Haas, M; Kýncl, M; Kodet, R



Adult preferences for infantile facial features: an ethological approach.  


In 1943 Konrad Lorenz postulated that certain infantile cues served as releasers for caretaking behaviour in human adults. This study is an attempt to confirm this hypothesis and to identify relevant cues. The stimuli studied were variations in facial features, and the responses were ratings of the attractiveness of the resultant infant faces. Parametric variations of eye height, eye width, eye height and width, iris size, and vertical variations in feature position (all presented in full-face drawings) were tested for their effect on the ratings, and highly significant preferences for particular stimuli were found. In general these preferences are consistent across a wide variety of environmental factors such as social class and experience with children. These findings are consistent with an ethological interpretation of the data. PMID:855947

Sternglanz, S H; Gray, J L; Murakami, M



Basic and clinical aspects of malignant melanoma  

SciTech Connect

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

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



Bone marrow transplantation for infantile ceramidase deficiency (Farber disease).  


Infantile ceramidase deficiency (Farber disease) is an uncommon, progressive lysosomal storage disease characterized by multiple ceramide-containing nodules (lipogranulomata) in the subcutaneous tissue and upper aerodigestive tract, painful periarticular swelling, psychomotor retardation, and varying degrees of ocular, pulmonary or hepatic involvement. Management of Farber disease has been limited to symptomatic supportive care, and few affected infants survive beyond 5 years of age. We performed an allogeneic bone marrow transplant (BMT) from an HLA-identical heterozygous sister in a 9.5-month-old female with minimally symptomatic Farber disease who received a pre-transplant regimen of busulfan and cyclophosphamide. Ceramidase activity in peripheral blood leukocytes increased from 6% before transplant to 44% (donor heterozygote level) by 6 weeks after BMT. By 2 months after transplant, the patient's subcutaneous lipogranulomata, pain on joint motion, and hoarseness had resolved. Despite modest gains in cognitive and language development, hypotonia and delayed motor skills persisted. Gradual loss of circulating donor cells with autologous hematopoietic recovery occurred; VNTR analyses showed 50% donor DNA in peripheral blood cells at 8.5 months after BMT and only 1% at 21 months after transplant. Interestingly, leukocyte ceramidase activity consistently remained in the heterozygous range despite attrition of donor cells in peripheral blood. This novel observation indicates ongoing hydrolase production by non-circulating donor cells, possibly in the mononuclear phagocytic system, and uptake by recipient leukocytes. Although lipogranulomata and hoarseness did not recur, the patient's neurological and neurocognitive status progressively declined. She died 28 months after BMT (age 37.5 months) with pulmonary insufficiency caused by recurrent aspiration pneumonias. Allogeneic BMT improves the peripheral manifestations of infantile ceramidase deficiency, but may not prevent the progressive neurological deterioration, even when carried out in minimally symptomatic patients. PMID:10967581

Yeager, A M; Uhas, K A; Coles, C D; Davis, P C; Krause, W L; Moser, H W



[Malignancies in patients on dialysis].  


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

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



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

PubMed Central

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

Alves, Joao Guilherme Bezerra; de Brito, Rita de Cassia Coelho Moraes; Cavalcanti, Telma Samila



Breast calcifications: which are malignant?  


Most calcifications depicted on mammograms are benign. However, calcifications are important because they can be the first and earliest sign of malignancy. For detection and analysis of microcalcifications, high-quality images and magnification views are required. The American College of Radiology (ACR) Breast Imaging Reporting and Data System (BI-RADS) classifies calcifications on mammograms into three categories: typical benign, intermediate concern and higher probability of malignancy, according to types and distribution of calcifications. Benign calcifications are typically larger, coarser, round with smooth margins and have a scattered or diffuse distribution. Malignant calcifications are typically grouped or clustered, pleomorphic, fine and with linear branching. It is important for radiologists to detect, evaluate, classify and provide appropriate recommendations for calcifications perceived on mammograms to provide proper management. PMID:19787181

Muttarak, M; Kongmebhol, P; Sukhamwang, N



Cyclosporin-A associated malignancy  

PubMed Central

The use of cyclosporin is well established within the ophthalmology community, especially against sight threatening intraocular inflammation. It is well known however, that immunosuppression in general is a risk factor for the development of malignancy and numerous studies point to the risk imposed by cyclosporin. This article analyses and reviews all relevant studies with regard to the development of malignancy associated with the use of cyclosporin and extrapolates this into the ophthalmic setting. This is to enable clinicians to assess the risks in individual patients and to present a monitoring regime which can be used in patients undergoing cyclosporin treatment. The review is solely concerned with the risk of the development of malignancy following cyclosporin immunosuppression and not with any other adverse effect.

Durnian, Jonathan M; Stewart, Rosalind MK; Tatham, Richard; Batterbury, Mark; Kaye, Stephen B



Two malignancies or an unusual presentation of a pleural malignancy?  


Malignant mesothelioma is primarily located in the pleura. Progression usually involves adjacent tissue invasion. Both lymphatic and haematogenous spreads are possible, but rare. Bone involvement usually means locally invasive disease and rarely bone marrow metastases. In this report we presented two patients with a mesothelioma and bone marrow metastases. PMID:23684920

Knipscheer, B J; Kromontono, R C R; de Bruin, P C; van Strijen, M J L; Herder, G J M



Fibroblastic tumors of intermediate malignancy in childhood.  


Pediatric fibroblastic-myofibroblastic tumors of intermediate prognosis are locally aggressive tumors that rarely metastasize. They are potentially curable, but managing them is often a challenge in terms of their correct diagnosis and appropriate treatment. This paper reviews the most recent biological findings and latest novelties in the multidisciplinary treatment of childhood desmoid-type fibromatoses, infantile fibrosarcoma and inflammatory myofibroblastic tumor. PMID:23406563

Ferrari, Andrea; Alaggio, Rita; Meazza, Cristina; Chiaravalli, Stefano; Vajna de Pava, Marco; Casanova, Michela; Cavaliere, Elena; Bisogno, Gianni



Studies of the effects of infantile experience on adult behavior in rats. I. Effects of infantile feeding frustration on adult hoarding  

Microsoft Academic Search

Previous findings by the senior author that infantile feeding frustration results in an increase in food hoarding as adults were confirmed. Satiated adults showed little hoarding, either in those groups which had been frustrated in infancy or in control animals. Although the experimental animals consistently hoarded more than their litter-mate controls during adult feeding frustration, the amount of hoarding was

J. Mcv. Hunt; Harold Schlosberg; R. L. Solomon; Eliot Stellar



[The spleen in hematologic malignancies].  


The spleen represents a major lymphatic and hematologic organ and, as such, is frequently involved in hematologic malignancies. Splenomegaly may constitute the first clinical sign leading to the diagnosis of a hematologic malignancy. Vice versa, the presence, or suspicion of a hematologic malignancy requires investigation of the spleen. In case of splenomegaly of unknown origin, directed history, clinical examination, and laboratory testing including a complete blood count with microscopic investigation of a peripheral blood smear, frequently allow to establish a tentative diagnosis. Whenever possible, further specific testing should be based on a thorough primary evaluation to avoid unnecessary diagnostic procedures. In light of the current diagnostic options, diagnostic splenectomy can usually be avoided to establish definitive diagnosis. Indolent lymphomas (chronic lymphocytic leukaemia, hairy cell leukaemia, splenic marginal zone lymphoma) and myeloproliferative neoplasms (chronic myeloid leukaemia, polycythemia vera, essential thrombocythemia, primary and secondary myelofibrosis) are the most prevalent hematologic malignancies associated with splenomegaly. Therapeutic options are highly differentiated depending on the underlying disease. Apart from very rare exceptions, therapeutic splenectomy can usually be avoided. PMID:23454563

Kienle, Dirk L



Lipid content of malignant lymphomas  

Microsoft Academic Search

Lipid staining, using oil red 0 and Sudan black B stain, was carried out on frozen sections of formalin-fixed tumour tissue from 142 cases of malignant lymphoma. Most cases of Burkitt's tumour contained abundant coarse lipid droplets both within the cytoplasm of the lymphoid cells and within non-neoplastic histiocytes scattered throughout the tumour. Lymphocytic lymphomas contained little stainable fat. Histiocytic

D. H. Wright



Cutaneous Manifestations of Internal Malignancy  

PubMed Central

Background: Many malignancies affecting the internal organs display cutaneous manifestations which may be either specific (tumor metastases) or nonspecific lesions. Aims: The study is aimed at determining the frequency and significance of cutaneous manifestations among patients with internal malignancy. Materials and Methods: 750 cases of proven internal malignancy, who attended a cancer chemotherapy center in South India, were studied. Specific infiltrates were confirmed by histopathology, fine needle aspiration cytology (FNAC) and marker studies. Results: Out of the 750 patients with internal malignancy, skin changes were seen in a total of 52 (6.93%) patients. Conclusion: Cutaneous metastases (specific lesions) were seen in 20 patients (2.66%): contiguous in 6 (0.8%), and non-contiguous in 14 (1.86%). Nonspecific skin changes were seen in 32 patients (4.26%). None of our patients presented with more than one type of skin lesions. Herpes zoster was the most common nonspecific lesion noticed in our patients, followed by generalized pruritus, multiple eruptive seborrheic keratoses, bullous disorder, erythroderma, flushing, purpura, pyoderma gangrenosum, insect bite allergy and lichenoid dermatitis.

Ayyamperumal, A; Tharini, GK; Ravindran, Vidhya; Parveen, B



Systemic treatment of malignant melanoma.  


Once there is evidence of systemic involvement in malignant melanoma, treatment options become severely limited and the disease is virtually incurable. There are, however, options available to treat patients, including single-agent chemotherapy, single-agent biologic response modifier (BRM), combination chemotherapy, and the combination of chemotherapeutic agents and BRMs. These treatment modalities and their indications for use are discussed. PMID:10941566

Mota, A; Deisseroth, A



Biochemical Basis of Malignant Hyperpyrexia  

Microsoft Academic Search

Pharmacologically-induced muscle contracture in vitro has been used as a model to study the biochemical basis of malignant hyperpyrexia. In 15 susceptible subjects halothane, succinylcholine, and potassium chloride all produced an abnormal muscle contracture, and the caffeine-induced contracture was greater than normal. The contractures were reproducible only in the presence of extracellular calcium ions. The fact that such dissimilar pharmacological

R. F. W. Moulds; M. A. Denborough



Predictive Characteristics of Malignant Pheochromocytoma  

PubMed Central

Purpose The prognosis of patients with malignant pheochromocytoma is poor, but the predictive factors are not well understood. We aimed to identify the clinical characteristics predictive of malignancy after initial surgical removal in patients with pheochromocytoma. Materials and Methods We retrospectively reviewed the records of 152 patients diagnosed with pheochromocytoma, including 5 (3.3%) with metastasis at the time of the initial surgical excision and 12 (7.9%) who developed metastasis during follow-up. To determine the factors predictive of malignancy, we compared clinical, radiographical, and urinary chemical findings between patients with benign and malignant disease. Mean follow-up was 41.5 months (range, 0.9-298 months) after surgery. Results Malignant tumors were significantly larger than benign tumors (11.1±4.0 cm vs. 6.2±3.4 cm, p<0.001), and postoperative persistence of arterial hypertension was more frequent after removal of malignant than benign tumors (p=0.001). Among the 147 patients without metastatic disease at diagnosis, those who developed metastasis had significantly lower concentrations of urinary catecholamine metabolites per unit of tumor, including vanillylmandelic acid (1.2 vs. 3.7 mg/day/cm, p=0.049), epinephrine (4.5 vs. 168.9 µg/day/cm, p=0.008), and norepinephrine (13.1 vs. 121.8 mg/day/cm, p<0.001). The overall 5-year metastasis-free survival rate was 84.4% and was significantly higher in patients with smaller tumors (?5.5 vs. >5.5 cm; 90.6% vs. 81.2%, p=0.025) and higher 24-hour secretion of vanillylmandelic acid (>2.1 vs. ?2.1 mg/day/cm; 94.9% vs. 70.9%, p=0.019). Conclusions Large tumor size (>5.5 cm) and minimally elevated 24-hour urinary vanillylmandelic acid (?2.1 mg/day/cm) were significantly associated with a higher probability of a malignant pheochromocytoma portending a lower metastasis-free survival and mandating more rigorous follow-up after surgery.

Park, Junsoo; Song, Cheryn; Park, Myungchan; Yoo, Sangjun; Park, Se Jun; Hong, Seokjun; Hong, Bumsik; Kim, Choung-Soo



Animal models of malignant mesothelioma.  


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

Kane, Agnes B



YouTube videos as a teaching tool and patient resource for infantile spasms.  


The purpose of this study was to assess YouTube videos for their efficacy as a patient resource for infantile spasms. Videos were searched using the terms infantile spasm, spasm, epileptic spasm, and West syndrome. The top 25 videos under each term were selected according to set criteria. Technical quality, diagnosis of infantile spasms, and suitability as a teaching resource were assessed by 2 neurologists using the Medical Video Rating Scale. There were 5858 videos found. Of the 100 top videos, 46% did not meet selection criteria. Mean rating for technical quality was 4.0 of 5 for rater 1 and 3.9 of 5 for rater 2. Raters found 60% and 64% of videos to accurately portray infantile spasms, respectively, with significant agreement (Cohen ? coefficient = 0.75, P < .001). Ten videos were considered excellent examples (grading of 5 of 5) by at least 1 rater. YouTube may be used as an excellent patient resource for infantile spasms if guided search practices are followed. PMID:21551373

Fat, Mary Jane Lim; Doja, Asif; Barrowman, Nick; Sell, Erick



Information on Infantile Colic on the World Wide Web.  


INTRODUCTION: The purpose of this study was to explore and describe the type and quality of information on infantile colic that a parent might access on the World Wide Web. METHODS: Two checklists were used to evaluate the quality indicators of 24 Web sites and the colic-specific content. RESULTS: Fifteen health information Web sites met more of the quality parameters than the nine commercial sites. Eight Web sites included information about colic and infant abuse, with six being health information sites. DISCUSSION: The colic-specific content on 24 Web sites reflected current issues and controversies; however, the completeness of the information in light of current evidence varied among the Web sites. Strategies to avoid complications of parental stress or infant abuse were not commonly found on the Web sites. Pediatric professionals must guide parents to reliable colic resources that also include emotional support and understanding of infant crying. A best evidence guideline for the United States would eliminate confusion and uncertainty about which colic therapies are safe and effective for parents and professionals. PMID:22664097

Bailey, Shana D; D'Auria, Jennifer P; Haushalter, Jamie P



Infantile systemic hyalinosis: a case report with a novel mutation.  


Infantile Systemic Hyalinosis (ISH) (OMIM 236490) is a rare, progressive and fatal autosomal recessive disorder characterized by multiple subcutaneous skin nodules, gingival hypertrophy, osteopenia, joint contractures, failure to thrive, diarrhea with protein losing enteropathy, and frequent infections. There is diffuse deposition of hyaline material in the skin, gastrointestinal tract, muscle and endocrine glands. It is caused by mutations in the ANTXR2 (also known as CMG2) gene, which encodes a trans-membranous protein involved in endothelial development and basement membrane-extracellular matrix assembly. We describe a child with classical features of ISH presenting in infancy with severe chronic debilitating pain and progressive joint contractures. The diagnosis was confirmed by molecular DNA sequencing of ANTXR2 gene which revealed a novel homozygous mutation not previously reported; 79 bp deletion of the entire exon 11 (c.867_945del, p.E289DfsX22). Although this is the first reported case of ISH in Oman, we believe that the disease is under-diagnosed since children affected with this lethal disease pass away early in infancy prior to establishing a final diagnosis. PMID:23386947

Al Sinani, Siham; Al Murshedy, Fathyia; Abdwani, Reem



Endoscopic goniotomy: a potential surgical procedure for primary infantile glaucoma  

NASA Astrophysics Data System (ADS)

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

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



Intravenous pamidronate in the treatment of severe idiopathic infantile hypercalcemia.  


Idiopathic infantile hypercalcemia (IIH) is a rare disorder caused by CYP24A1 loss-of-function mutation, resulting in impaired degradation of 1,25-dihydroxyvitamin D3. Pamidronate, an intravenously administered bisphosphonate, which is a potent inhibitor of bone resorption, has been reported only once for treatment IIH. We present a case of a previously healthy 5-month-old boy with IIH, where calcemia peaked to 5 mmol/L. Treatment with methylprednisone and furosemide had only minor effects; therefore, 2 intravenous infusions of pamidronate (0.6 mg/kg per dose) corrected the serum calcium level to 2.95 mmol/L. Furthermore, CYP24A1 homozygous mutation p.R396W (c.1186c>t) was identified in this patient, confirming the clinical diagnosis of IIH. In conclusion, IIH has a favorable outcome once properly detected and appropriately treated. Pamidronate has a beneficial effect in those patients with IIH where glucocorticoids and furosemide fail to meet the expectations.   PMID:23485543

Skalova, Sylva; Cerna, Lucie; Bayer, Milan; Kutilek, Stepan; Konrad, Martin; Schlingmann, Karl-Peter



VECP evidence for binocular function in infantile esotropia.  


Since commonly used clinical methods of measuring binocular function require subjective responses, this testing has been limited to more cooperative children, usually older than 2 years of age. Recently, we have begun using a clinically practical, visually evoked cortical potential (VECP) method to detect the presence of binocular neurons in infants and young children. We studied 14 children, ages 4 to 44 months, with infantile esotropia. Nine had surgical correction for esotropia by the age of 2 years. Twenty-five normal infants ages 6 weeks to 22 months served as controls. Most normal infants showed the development of the "beat" by 2 months of age. The "sum" VECP was not consistently present until age 6 months. Four of the five esotropic infants less than 1 year of age, demonstrated neither a "sum" nor "beat" response. All nine patients with corrective surgery performed before 2 years of age developed a significant sum response and three developed a beat. Five patients had not had surgery until after 2 years of age. Two developed a sum and one a beat, but none had both beat and sum responses. The results suggest that there is a loss of nonlinear binocular response in esotropic children not corrected before the age of 2 years and that these responses can be restored after early treatment even if not present at the time of surgery. PMID:7807298

France, T D; Ver Hoeve, J N


[Congenital solitary infantile myofibroma: report of two cases].  


The infantile myofibromatosis is a rare pathology usually affecting children under 2 years. More than half are congenital, located in head and neck in a 30% of the cases. Myofibroma is a benign mesenchymal tumor that appear an isolated lesion or multiple, with or without visceral involvement. Case 1: A newborn girl that presents lump in scalp suspected of encefalocele. Ultrasound and RM: solid and heterogeneous mass 4 x 2 cm with increased peripheral vascularisation. Case 2: A 7-month-old baby boy with lump in right occipital zone detected at 4 months. Ultrasound and RM: injury 1 x 1.5 cm in head esplenio muscle suggestive of hemangioma. Results: After surgical total resection, the histological study and immunohistochemical identified the lesion as myofibroma. The evaluation of disease dissemination was normal and the recovery of the patients was favorable. The differential diagnosis of myofibroma must be carried out with other mesenchymal tumors and with non neoplastic injuries characteristics of the region affects. The visceral location and multiple forms worsen the prognosis, so is important do an exhaustive study. Treatment is conservative surgery, but if there is no risk to the child, the possibility of spontaneous regression makes the abstention therapeutic a correct alternative. PMID:22295664

Lasso Betancor, C E; Vázquez Rueda, F; Vargas Cruz, V; Ayala Montoro, J; Ruiz, Hierro C; Gómez Beltrán, O



A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis.  


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



The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature  

Microsoft Academic Search

OBJECTIVE: Infantile Pompe's disease is a lethal cardiac and muscular disorder. Current developments toward enzyme replacement therapy are promising. The aim of our study is to delineate the natural course of the disease to verify endpoints of clinical studies. METHODS: A total of 20 infantile patients diagnosed by the collaborative Dutch centers and 133 cases reported in literature were included

Hout van den J. M. P; Ploeg van der A. T; Diggelen van O. P; J. A. M. Smeitink; G. P. A. Smit; B.-T. T. Poll-The; H. D. Bakker; M. C. B. Loonen; J. B. C. de Klerk; A. J. J. Reuser; W. C. J. Hop



Mutations in PDGFRB and NOTCH3 are the first genetic causes identified for autosomal dominant infantile myofibromatosis.  


A recurrent PDGFRB mutation causes familial infantile myofibromatosis Cheung et al. (2013) The American Journal of Human Genetics 92: 996-1000. Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis Martignetti et al. (2013) The American Journal of Human Genetics 92: 1001-1007. PMID:23865785

Lee, Jw



Peroxisomal integral membrane proteins in livers of patients with Zellweger syndrome, infantile Refsum's disease and X-linked adrenoleukodystrophy  

Microsoft Academic Search

Summary Livers from seven patients with peroxisome disorders, three with Zellweger syndrome, one with infantile Refsum's syndrome and three with X-linked adrenoleukodystrophy, were analysed by immunoblotting. The bifunctional protein catalysing two peroxisomal ß-oxidation reactions was deficient in all Zellweger livers and in the infantile Refsum's liver, consistent with the absence of morphologically recognizable peroxisomes. Three peroxisomal integral membrane proteins (IMPs)

G. M. Small; M. J. Santos; T. Imanaka; A. Poulos; D. M. Danks; H. W. Moser; P. B. Lazarow



Congenital malignant rhabdoid tumor of the orbit  

Microsoft Academic Search

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

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



Pleural diseases related to metastatic malignancies  

Microsoft Academic Search

Pleural effusions associated with malignancy (either malignant or paramalignant) pose diagnostic and therapeutic dilemmas for the clinician. This article reviews the common causes of malignant and paramalignant pleural effu- sions, pathogenesis, clinical presentation, chest radiography, pleural fluid charac- teristics, diagnosis, prognosis, and treatment. Talc, used either by poudrage or slurry, is the most effective agent used for pleu- rodesis. Talc,

S. A. Sahn



Malignant mesothelioma of the pleura: interobserver variability  

Microsoft Academic Search

AIMS--To assess the consistency of histopathological diagnosis of pleural malignant mesothelioma by estimating interobserver agreement between five pathologists. METHODS--Eighty eight histological sets pertaining to original diagnoses of pleural malignant mesothelioma were reviewed separately by each pathologist. Diagnostic likelihood was graded as definite (A), probable (B), possible (C), improbable (D), and definitely not (E) malignant mesothelioma. The following indexes were estimated:

A. Andrion; C. Magnani; P. G. Betta; A. Donna; F. Mollo; M. Scelsi; P. Bernardi; M. Botta; B. Terracini



Food allergy testing in infantile eczema: a clinical approach and algorithm.  


The complex relationship between food allergy and infantile eczema has prompted divergent approaches to investigating potential food triggers in eczematous patients. It is well recognised that a significant proportion of infants with eczema have immunoglobulin E-mediated food allergy, reported to range between 20-80%. Determining whether certain foods trigger an eczematous flare in individual infants with eczema is difficult. For all infants with eczema, good skin care is the mainstay of treatment but identifying and avoiding triggers (both allergic and non-allergic) is important in some infants. Given this, we have a developed an algorithm that can be used by dermatologists in the investigation and management of food allergies in infantile eczema. Issues such as patient selection, investigation and elimination diets are addressed, with reference to relevant evidence in the literature. Our aim is to provide dermatologists with a framework to manage food allergies in infantile eczema, allowing the problem to be addressed with confidence. PMID:22686941

Newland, Kate; Warren, Lachlan; Gold, Michael



Multimodality imaging of malignant pheochromocytoma.  


Pheochromocytomas offer the opportunity to explore multiple pathophysiological mechanisms through functional imaging. MIBG scintigraphy and PET scanning with tracers of the sympathetic nervous system are based on uptake of catecholamines and catecholamine-like compounds by hNET, the human norepinephrine transporter. In-111 pentetreotide scanning involves the imaging of somatostatin receptors on the cellular surface of tissues. FDG PET scanning examines the transport and incorporation of FDG into cells. We present a patient with malignant pheochromocytoma who underwent multitracer imaging to characterize the tumor and probe its pathophysiology to direct a therapeutic approach. This case underscores the inherent difficulties in the diagnosis and localization of malignant pheochromocytomas. Multiple approaches to functional and anatomic imaging may be required to fully delineate the extent of disease and similarly to direct radionuclide-based therapy. PMID:17117086

Esfandiari, Nazanene H; Shulkin, Barry L; Bui, Chuong; Jaffe, Craig A



Height at diagnosis of malignancies.  

PubMed Central

Studies of the presenting height of children with malignancies have produced conflicting results, from an excess of taller patients to an excess of shorter patients. The problems of measurement bias, inadequate comparison populations, small numbers of patients, subgroup analyses, and overreliance on simple significance tests are all possible reasons for the variation in results. To clarify this issue, we studied heights at diagnosis of 3657 children and adolescents aged under 18 years. Their malignancies included acute lymphoblastic leukaemia, non-Hodgkin's lymphoma, Hodgkin's disease, acute non-lymphoblastic leukaemia, osteosarcoma, retinoblastoma, neuroblastoma, Wilms' tumour, rhabdomyosarcoma, and Ewing's sarcoma. Compared with published standards for the heights of children in control populations, no significant deviation from population norms was found for patients in any of the 10 disease categories after proper adjustment for multiple significance testing.

Pui, C H; Dodge, R K; George, S L; Green, A A



Vulvar Malignancy in Neurofibromatosis Syndrome  

PubMed Central

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

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



Venous thromboembolism in malignant gliomas  

PubMed Central

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




Olanzapine induced neuroleptic malignant syndrome  

PubMed Central

An 18 year old male diagnosed as a case of bipolar affective disorder (BPAD), developed neuroleptic malignant syndrome (NMS) following treatment with olanzapine (20 mg per day), an atypical antipsychotic drug. NMS is usually seen with typical antipsychotic drugs. The patient was diagnosed as a case of NMS, offending agent was immediately withdrawn and prompt treatment with bromocriptine and levodopa produced a good recovery. The various features of the case are discussed in view of the potential mortality of the syndrome.

Patra, Bichitra Nanda; Khandelwal, Sudhir K.; Sood, Mamta



Lymphatic mapping in gynecologic malignancies.  


Gynecologic malignancies account for 15% of all cancer diagnosis in women. Primary lymphatic spread is well recognized in vulvar, cervical, uterine, and ovarian carcinomas. Vulvar carcinoma spreads locally to the inguinofemoral lymph nodes in a relatively predictable fashion similar to the local spread of breast carcinoma. Lymphatic mapping using radioactive colloid should provide adequate means to sample these nodal basins while attempting to reduce postoperative morbidity. Methods of vulvar lymphoscintigraphy are described. PMID:10448696

Grendys, E C; Salud, C; Durfee, J K; Fiorica, J V



Cerebral metastases in childhood malignancies  

Microsoft Academic Search

Summary Between January 1982 to June 1994, 154 children with non-CNS malignant tumours excluding leukaemias and lymphomas were admitted and treated at the UKMC. Symptomatic (10 cases; 6.5%) and non-symptomatic (2 cases; 1.2%) cranial metastases (calvarial, durai and\\/or parenchymal) were seen in 12 (7.8%) cases. Among these 12 cases, 7 had intracranial parenchymal metastases (4.5%). Three cases had multiple intracranial

E. Tasdemiroglu; R. A. Patchell



Sialidase and malignancy: A minireview  

Microsoft Academic Search

Aberrant sialylation in cancer cells is thought to be a characteristic feature associated with malignant properties including\\u000a invasiveness and metastatic potential. Sialidase which catalyzes the removal of sialic acid residues from glycoproteins and\\u000a glycolipids, has been suggested to play important roles in many biological processes through regulation of cellular sialic\\u000a acid contents. The altered expression of sialidase observed in cancer

Taeko Miyagi; Tadashi Wada; Kazunori Yamaguchi; Keiko Hata



Spinal Metastases From Gastrointestinal Malignancies  

Microsoft Academic Search

Among 965,000 new patients with cancer occurring yearly in the United States, bone metastases will eventually develop in 30\\u000a to 70% (1). The most common site of metastases is the spine occurring in 50 to 70% of those with bone metastases (1). In adults, malignant bone tumors arise most frequently from extraosseous epithelial primaries, whereas children usually\\u000a have primaries from

Mellar P. Davis


Nonsurgical approaches to esophageal malignancy  

Microsoft Academic Search

Esophageal cancer remains one of the leading causes of cancer death worldwide. Patients generally present with progressive\\u000a dysphagia, malnutrition, and weight loss. The diagnosis commonly involves radiologic studies and conventional esophagogastroduodenoscopy.\\u000a Advances in endoscopic evaluation have allowed early detection of premalignant and malignant lesions. These techniques include\\u000a chromoscopy, which can be performed in conjunction with high-resolution\\/magnification endoscopy, and fluorescent endoscopy.

Darius Sorbi; David E. Fleischer



Targeted therapies for thymic malignancies.  


Significant efforts have been made to dissect the molecular pathways involved in the carcinogenesis of thymic malignancies. Research is hampered by the rarity of the tumor, controversies about histopathologic classification, and the lack of established cell lines and animal models. Insights into the biology of these tumors have been made following anecdotal clinical responses to targeted therapies. This article reviews current knowledge about the molecular data that define molecular subsets and support the use of targeted therapies in thymic tumors. PMID:21070993

Girard, Nicolas



Melanocyte development and malignant melanoma.  


Malignant melanoma is a notoriously aggressive disease that can affect relatively young individuals and whose incidence is rising at an alarming rate. Unlike many cancers, metastatic melanoma is poorly responsive to current therapies and mutations affecting p53, the retinoblastoma gene product or Ras which occur frequently in many other cancer types, appear to be rare or at least relatively late events in the progression of the disease. Recent advances in our understanding of the disease at the molecular level have indicated that in addition to the loss of cell cycle checkpoints which may be common to all cancers, malignant melanoma shares many characteristics in common with developmental precursors to melanocytes, the mature pigment producing cells of the skin and hair follicles which are responsible for skin and hair colour. This review therefore focuses on the signalling pathways that play a crucial role in the development of the melanocyte lineage which are subject to deregulation in malignant melanoma namely signalling by receptor tyrosine kinases, the Wnt signalling pathway, as well as loss of the p16INK4a cyclin-dependent kinase inhibitor. Intriguingly all three pathways impact on the expression or function of the microphthalmia-associated transcription factor which plays an essential role in melanocyte development. PMID:11007928

Goding, C R


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.

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



Systemic amyloidosis and malignant disease  

PubMed Central

Among 8,758 necropsies there are 93 cases of systemic amyloidosis. Of these, 14 are associated with malignancy: seven with myelomatosis or malignant lymphoma, and seven with carcinoma. The incidence of amyloidosis in myelomatosis is at least 10%. Attention is drawn to the presence of amyloid in the tubular casts of `myeloma kidney'. In Hodgkin's disease the incidence is about 4% but it may be higher in patients receiving chemotherapy. In lymphosarcoma it is of the order of a fraction of 1% but in macroglobulinaemia, essential or associated with malignant lymphoma, the incidence is considerably higher. Systemic amyloid is found in one in 375 of patients with carcinoma and in only a single patient among 1,500 `control cases'. Renal carcinoma accounts for one-quarter of all carcinomas associated with systemic amyloid. The other carcinomas originate in a variety of organs. In myelomatosis, amyloid may be found in the tumour deposits. In Hodgkin's disease and in lymphosarcoma there appears to be greater amyloid deposition in neoplastic tissue than hitherto realized. The carcinomas provide a striking example of topographical association of amyloid and tumour, the two being closely related in six of seven cases. Images

Azzopardi, J. G.; Lehner, T.



Recurrent malignant salivary gland neoplasms.  


Recurrent salivary gland malignancies present difficult therapeutic decisions and poor prognosis in many instances, and treatment becomes of a palliative nature only. As many of the salivary gland malignancies we see are of the recurrent type, the following study was done to determine the efficacy of a vigorous attempt at retreatment. During the period January 1, 1960, through December 31, 1984, 352 patients with major and minor salivary gland tumors were evaluated at our institution. There were 149 benign lesions and 203 patients with malignant tumors. Of these, 99 patients had recurrent and metastatic tumors that had been treated initially elsewhere. Thirty-three of these patients were able to be treated with curative intent: surgery, 21; surgery plus radiation, 9; radiation therapy alone, 2; and radiation plus chemotherapy, 1. The 5 year survival with no evidence of disease was achieved in three patients with surgery alone and two patients with surgery plus radiation therapy. The group of five patients was comprised of two patients with adenoid cystic carcinomas of the parotid, one with intermediate grade mucoepidermoid carcinoma of the parotid, one, sebaceous cell carcinoma of the parotid, and one, adenoid cystic carcinoma of an accessory salivary gland. The results of this study serve to re-emphasize the relative poor yield of attempts at retreatment of loco-regional recurrence of salivary gland tumors. PMID:2796352

Rodriguez-Bigas, M A; Sako, K; Razack, M S; Shedd, D P; Bakamjian, V Y; Castillo, N B; Rao, U



Targeting hedgehog in hematologic malignancy.  


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

Irvine, David A; Copland, Mhairi



The Problem of Atypical Neuroleptic Malignant Syndrome  

PubMed Central

Neuroleptic malignant syndrome is a serious and potentially fatal adverse effect of antipsychotic medications. Although diagnostic criteria for neuroleptic malignant syndrome have been established and are widely accepted and used, it should be recognized that atypical presentations occur, particularly during treatment with atypical antipsychotics. However, it remains unclear whether these atypical presentations represent early or impending neuroleptic malignant syndrome. Furthermore, since neuroleptic malignant syndrome is a diagnosis of exclusion, careful consideration of other neuropsychiatric conditions should occur. Relying on creatine phosphokinase elevation may result in an incorrect diagnosis of atypical neuroleptic malignant syndrome. We wish to present a case of this diagnostic dilemma in a patient with catatonia.

Surber, Susan A.



Orthognathic surgery in a case of infantile facioscapulohumeral muscular dystrophy with macroglossia  

Microsoft Academic Search

Introduction  Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder with a shortened fragment of a D4Z4 repeat\\u000a on chromosome 4q35. The infantile form of FSHD is relatively rare.\\u000a \\u000a \\u000a \\u000a Case report  Within this case report, we describe the orthognatic surgery in a patient with infantile FSHD to diminish the functional and\\u000a esthetic disturbances in the orofacial region. We saw a 20-year-old female

Marcus Stephan Kriwalsky; Marcus Deschauer; Alexander Walter Eckert; Johannes Schubert; Stephan Zierz



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))



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


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

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



Infantile infection and diabetes insipidus in children with optic nerve hypoplasia  

PubMed Central

Background: Bilateral optic nerve hypoplasia (BONH) is often associated with other central nervous system midline abnormalities (septo-optic dysplasia). Hormonal dysfunction, caused by anterior (cortisol) and posterior (ADH) pituitary involvement, can be sudden, severe, and life threatening. Methods: Case series. Three cases of septo-optic dysplasia (SOD) presenting as infantile infection with associated diabetes insipidus are reported. The diagnosis of SOD was suspected only after ophthalmological evaluation; further evaluation led to the diagnosis of panhypopituitarism. Conclusions: A high index of suspicion is required to diagnose SOD in children when the disorder presents with infantile infection and hypernatraemia. Early warning signs of neonatal jaundice and hypoglycaemia should prompt ophthalmological evaluation.

Donahue, S P; Lavina, A; Najjar, J



A Case of Congenital Infantile Fibrosarcoma of Sigmoid Colon Manifesting as Pneumoperitoneum in a Newborn  

PubMed Central

Congenital infantile fibrosarcoma (CIF) is a rare soft-tissue tumor in the pediatric age group and seldom involves the gastrointestinal tract. A 2-day-old boy was transferred to our hospital with a pneumpoperitoneum. After emergency operation, we could find a solid mass wrapping around a sigmoid colon and performed a segmental resection of sigmoid colon including a mass. Histopathologic examination showed an infantile fibrosarcoma origining from the muscular layer of colon. The baby was discharged on the 17th hospital day and followed for 1 yr without recurrence.

Kim, Hae Young; Byun, Shin Yun; Park, Kyung Hee



Infantile fibrosarcoma of the penis in a 2-year-old boy.  


Fibrosarcoma is rare in the pediatric age group. It generally involves the extremities and the trunk but rarely involves the genital area. We report a case of a large fungating infantile fibrosarcoma of the penis in a 2-year-old Malay boy. Partial recovery of the penile structure was achieved after chemotherapy. The difficulty in managing the social and surgical aspect of this case is discussed in our report. To the best of our knowledge, this is the first case report of infantile fibrosarcoma involving the penis in an Asian region. PMID:22854139

Taib, Fahisham; Mohamad, Norsarwany; Mohamed Daud, Mohamed Ashraf; Hassan, Aniza; Singh, Mutum Samarendra; Nasir, Ariffin



Fatal infantile neuromuscular presentation of glycogen storage disease type IV.  


Glycogen storage disease type IV or Andersen disease is an autosomal recessive disorder due to deficiency of glycogen branching enzyme. Typically, glycogen storage disease type IV presents with rapidly progressive liver cirrhosis and death in childhood. Variants include a cardiopathic form of childhood, a relatively benign myopathic form of young adults, and a late-onset neurodegenerative disorder (adult polyglucosan body disease). A severe neuromuscular variant resembling Werdnig-Hoffmann disease has also been described in two patients. The objective was to describe two additional infants with the neuromuscular variant and novel mutations in the GBE1 gene. Branching enzyme assay, Western blot, RT-PCR and sequencing were performed in muscle biopsies from both patients. The cDNA of patient 1 was subcloned and sequenced to define the mutations. Muscle biopsies showed accumulation of periodic acid Schiff-positive, diastase-resistant storage material in both patients and increased lysosomal enzyme activity in patient 1. Branching enzyme activity in muscle was negligible in both patients, and Western blot showed decreased branching enzyme protein. Patient 1 had two single base pair deletions, one in exon 10 (1238delT) and the other in exon 12 (1467delC), and each parent was heterozygous for one of the deletions. Patient 2 had a large homozygous deletion that spanned 627 bp and included exons 8-12. Patient 1, who died at 41 days, had neurophysiological and neuropathological features of Spinal Muscular Atrophy. Patient 2, who died at 5(1/2) weeks, had a predominantly myopathic process. The infantile neuromuscular form of glycogen storage disease type IV is considered extremely rare, but our encountering two patients in close succession suggests that the disease may be underdiagnosed. PMID:15019703

Tay, Stacey K H; Akman, Hasan O; Chung, Wendy K; Pike, Michael G; Muntoni, Francesco; Hays, Arthur P; Shanske, Sara; Valberg, Stephanie J; Mickelson, James R; Tanji, Kurenai; DiMauro, Salvatore



Infantile immunoglobulin A nephropathy showing features of membranoproliferative glomerulonephritis.  


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

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



Second Malignancies Among Elderly Survivors of Cancer  

PubMed Central

The U.S. population is aging, life expectancy is increasing, and cancer is a disease associated with aging. Advances in screening and therapeutics have led to a growing number of cancer survivors who are at risk for the development of secondary malignancies. Although the risks for the development of second malignancies following a first diagnosis of cancer are well described for survivors of childhood malignancies, there are fewer data for malignancies common in older adults. With the aging of the U.S. population, and with improving survival statistics in many adult malignancies, there is an increasing need to identify those second malignancies that might develop in the older adult survivor of cancer. In this paper, we describe the types and rates of second malignancies following cancers commonly seen in older adults and review the literature on these malignancies. Comparisons are made between older and younger adults with regard to the risks for developing treatment-related cancers with different modalities. Recommendations for early detection of second malignancies are summarized, though there remains an unmet need for evidence-based guidelines for screening for second malignancies in the older adult in particular.

Hurria, Arti



Priapism due to solid malignancy.  


Although priapism secondary to hematologic malignancies has been well described, review of the literature reveals 75 case reports of priapism due to local corporeal involvement by solid tumors. Our recent experience with 6 cases of local invasion of the corporeal bodies is reviewed. Three transitional cell carcinomas, one prostatic adenocarcinoma, one rectal carcinoma, and one sarcoma comprise the series. Three patients presented with priapism as their chief complaint, and 3 patients presented with priapism as their first sign of recurrence. Therapy included corporeal curettage, surgery, radiotherapy, or chemotherapy. None of the modalities was entirely effective, although chemotherapy seemed to offer the best palliation. PMID:6702039

Krco, M J; Jacobs, S C; Lawson, R K



Malignant tumours of the jaws.  


Almost all variants of malignant primary and secondary tumours of bone have been described as occurring within the jaws. Odontogenic carcinomas and sarcomas are peculiar to the jawbones and are distinctly uncommon. Non-odontogenic tumours in comparison arise with more frequency, yet the maxilla and mandible remain unusual sites for most primary and secondary non-odontogenic tumours of bone. The most commonly occurring primary bone tumours affecting the jaws include osteosarcoma, Burkitt's lymphoma and multiple myeloma, while secondary or metastatic tumours to the jaws are rare in contrast to the remainder of the skeleton. PMID:23957100

Coleman, H; Sukumar, S



Malignant Neoplasms of the Nasopharynx  

PubMed Central

A mass in the neck, facial pain and cranial nerve palsies are the most common presenting symptoms of malignant tumours of the nasopharynx. Surgery is limited to biopsy for histological diagnosis. External irradiation is the treatment of choice, both for the primary lesion and the regional and distant metastases. Illustrative case histories are presented in detail. Experience over a 20-year period demonstrates that a 20% five-year survival rate has been obtained. ImagesFig. 1Fig. 2Fig. 3Fig. 4Fig. 5Fig. 6Fig. 7Fig. 8

Novick, W. H.; Shimo, G.; Ryder, D. R.; Pirozynski, W. J.; Hazel, J. J.; Bouchard, J.



Infección respiratoria aguda en niños que acuden a un centro de desarrollo infantil  

Microsoft Academic Search

Objective. To assess the incidence of acute respiratory in- fections and bacterial colonization in children attending a daycare center. Material and Methods. A cohort study was conducted from April to Octuber 1999, among 85 chil- dren aged under four years, who attended the daycare center at Hospital Infantil de Mexico (Mexico City's Children's Hospital) \\

Eugenia Nandí-Lozano; Luz Elena Espinosa; Lucía Viñas-Flores; Carlos Avila-Figueroa



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

Microsoft Academic Search

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

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



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


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.



Infantile-onset multisystem inflammatory disease: A differential diagnosis of systemic juvenile rheumatoid arthritis  

Microsoft Academic Search

We describe four unrelated children with neonatal maculopapular rash, fever, arthritis, hepatosplenomegaly, lymphadenopathy, eye involvement, and neurologic symptoms. Radiographs of the joints were surprisingly similar, showing an abnormal epiphyseal and metaphyseal appearance. These clinical and radiologic findings allowed us to include these children in a very peculiar syndrome described as infantile-onset multisystemic inflammatory disease. A chondrosarcoma developed in one of

Carmen L. De Cunto; Diana I. Liberatore; José L. San Román; Julio C. Goldberg; Ana A. Morandi; Guillermina Feldman



Infantile autism and computerized tomography brain-scan findings: Specific versus nonspecific abnormalities  

Microsoft Academic Search

The hypothesis that specific computerized tomography brain-scan findings are associated with infantile autism was tested in 45 cases and 19 controls The autistic group was subdivided into serious and less-serious languageimpaired subgroups. The analysis of Euclidean Distances, a type of cluster analysis, showed that neuroradiological parameters of cases and controls, including ventricular sizes, were on the whole significantly different, but

Umberto Balottin; Maurizio Bejor; Ambrogio Cecchini; Adelaide Martelli; Stefano Palazzi; Giovanni Lanzi



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

Microsoft Academic Search

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

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



Clinical and Electroencephalographic Features of Infantile Spasms Associated with Malformations of Cortical Development  

Microsoft Academic Search

The aim of this study was to reveal the clinical and encephalographic (EEG) features of infantile spasms (IS) with malformations of cortical development (MCDs). The clinical features, EEG findings, neuroimaging studies and outcomes of various therapeutic modalities for 27 patients with IS and MCDs were reviewed. Background activities of EEG on the MCDs, i.e. asymmetric hypsarrhythmia, localized persistent polymorphic slowing,

Hoon Chul Kang; Yong Soon Hwang; Jung Chae Park; Woo Ho Cho; Soung Hee Kim; Heung Dong Kim; Sang Keun Park



Imaging diagnosis and follow-up of infantile hepatic haemangioendothelioma: A case report  

Microsoft Academic Search

A 4-week-old male infant was admitted to the hospital with acute gastrointestinal bleeding and marked coagulopathy secondary to vitamin K malabsorption in the presence of cholestasis. Physical examination revealed hepatomegaly and cutaneous haemangiomas. Ultrasonography, CT, and MRI demonstrated a multifocal vascular process and allowed the diagnosis of infantile hepatic haemangioendothelioma to be made without the use of more invasive diagnostic

Thomas M. Berger; Markus F. Berger; Alan D. Hoffman; Donald Zimmerman; Otmar Tönz



A special case of congenital adrenal hypoplasia and acute bilateral infantile striatal necrosis.  


Isolated mineralocorticoid deficiency is described in a 5-week-old boy. The deficiency progressed to general adrenal insufficiency during the boy's first year of life. The family history suggested X-linked inheritance. At 18 months of age the patient developed acute bilateral infantile striatal necrosis, which might suggest a possible relationship between both entities. PMID:7488830

van der Ent, C K; de Vroede, M A; Augustijn, P B; Wit, J M



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

Microsoft Academic Search

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

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



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

ERIC Educational Resources Information Center

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

Mahler, Margaret S.


Co-Development of VEP Motion Response and Binocular Vision in Normal Infants and Infantile Esotropes  

Microsoft Academic Search

PURPOSE. To determine the maturational course of nasotemporal asymmetry in infantile esotropia and to define the relationships among the symmetry of the motion visual evoked potential (MVEP), eye alignment, fusion, and stereopsis. METHODS. Sixty healthy term infants and 34 infants with esotropia participated. Nasotemporal MVEP asymmetry was assessed by the presence of a significant F1 response component with an inter-

Eileen E. Birch; Sherry Fawcett; David Stager



Value of transcranial Doppler indices in predicting raised ICP in infantile hydrocephalus  

Microsoft Academic Search

Cerebral hemodynamic changes in infants with progressive hydrocephalus have been studied with the transcranial Doppler (TCD) technique. Several authors have referred to the correlation between the hemodynamic changes and increased intracranial pressure (ICP). Despite conflicting conclusions on the value of pulsatility index (PI) measurements for monitoring infantile hydrocephalus, these pulsatility indices are the most commonly used for this purpose. Although

P. W. Hanlo; R. H. J. M. Gooskens; I. J. M. Nijhuis; J. A. J. Faber; R. J. A. Peters; A. C. van Huffelen; C. A. F. Tulleken; J. Willemse



Prolonged survival and serial magnetic resonance imaging/magnetic resonance spectroscopy changes in infantile Krabbe disease.  


Krabbe disease may present during infancy, late infancy, or adulthood. Earlier-onset disease is associated with shorter survival times. We present a case of infantile onset Krabbe disease with prolonged survival, initial intracranial optic nerves and optic chiasm hypertrophy, and serial changes on cranial magnetic resonance imaging and magnetic resonance spectroscopy. PMID:22964446

Udow, Sean; Bunge, Martin; Ryner, Lawrence; Mhanni, Aizeddin A; Salman, Michael S



Serial MRI and neurophysiological studies in late-infantile Krabbe disease  

Microsoft Academic Search

We report serial clinical, radiological, and neurophysiological findings of a patient with late-infantile Krabbe disease. At age 13 months, the patient was hospitalized for sudden stiffness and irritability and a diagnosis of spastic diplegia was made. At age 24 months, he was readmitted because of further psychomotor deterioration; neurologically, he manifested severe spastic tetraplegia with optic atrophy. MRI disclosed diffuse

Dimitrios I. Zafeiriou; Eleni M. Michelakaki; Anastasia L. Anastasiou; Nikos P. Gombakis; Eleftherios E. Kontopoulos



Molecular typing of Salmonella enterica serotype Worthington isolates from infantile diarrhoea  

Microsoft Academic Search

Background & objectives: Salmonella Worthington has been known to be a causative agent for childhood diarrhoea. There is a paucity of information on the molecular relatedness of the strains isolated in various hospitals in India. The present study was carried out to attempt molecular typing of a cluster of Salmonella Worthington isolates obtained from cases of infantile diarrhoea during a

Lata Kapoor; Hatem K. Eideh; Shamweel Ahmad; Pankaj Lal; Monorama Deb; S. S. Thukral



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.



Psychiatric Disorders in the Parents of Individuals with Infantile Autism: A Case-Control Study  

Microsoft Academic Search

Background: The rates and types of psychiatric disorders were studied in the parents of individuals with infantile autism (IA). Sampling and Methods: To estimate the prevalence and types of psychiatric disorders, the parents of 115 individuals with IA and the parents of 330 controls from the general population were screened through the nationwide Danish Psychiatric Central Register covering a period

Svend Erik Mouridsen; Bente Rich; Torben Isager; Niels Jørgen Nedergaard



Infantile Hypertrophic Pyloric Stenosis is Rare in an Indigenous Population of the United Arab Emirates  

Microsoft Academic Search

An 11-year retrospective study was carried out to estimate the incidence of infantile hypertrophic pyloric stenosis among the indigenous national population of the United Arab Emirates (UAE). Data for the period 1984-1994 inclusive came from the surgical operation and medical records of all patients with pyloric stenosis in Tawam Hospital, Al Ain, UAE. Tawam Hospital is one of the principal

K. P. Dawson; B. S. Ghazala; R. Shawis



Psychodynamic and behavior modification approaches to the treatment of infantile autism  

Microsoft Academic Search

In the treatment of infantile autism, behaviorists emphasize directed behavioral change while psychodynamic therapists tend to focus attention on the worker-child relationship. A review of the literature suggests that both of these aspects of intervention are important, and that both play a role in virtually all therapeutic efforts. The similarities in methods of intervention found in the work of investigators

David Helm



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

ERIC Educational Resources Information Center

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

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



Infantile Spasms as an Adverse Outcome of Neonatal Cortical Sinovenous Thrombosis  

Microsoft Academic Search

Cerebral sinovenous thrombosis is a rare but potentially serious condition often occurring in children with nonspecific presenting features. Much remains to be learned about the long-term outcome of infants with cerebral sinovenous thrombosis. We report a series of four patients taken from a prospective database of neonates with sinovenous thrombosis who subsequently developed infantile spasms, three with hypsarrythmia on electroencephalography

Teesta B. Soman; Mahendranath Moharir; Gabrielle deVeber; Shelly Weiss



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

ERIC Educational Resources Information Center

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

Chatoor, Irene; And Others



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

Microsoft Academic Search

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

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



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

ERIC Educational Resources Information Center

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

Sanua, Victor D.


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



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



A new dose-response curve for bilateral medial rectus recessions for infantile esotropia  

Microsoft Academic Search

Purpose: In 1982, Mims et al1 generated the first rigorous dose-response curve for bilateral medial rectus recessions for infantile esotropia (ET). Curve fitting calculations were hampered by substantial variability of surgical effect for the larger angles of ET, and an exponential curve was chosen for angles below 30 ET and a straight line for angles above 30 ET. In a

Huy M. Tran; James L. Mims; Robert C. Wood



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



Neurodevelopmental and Epilepsy Outcomes in a North American Cohort of Patients With Infantile Spasms  

Microsoft Academic Search

Studies have suggested disparate variables affecting long-term outcomes in patients with infantile spasms. Using a retrospective chart review, the authors identified 109 patients who had follow-up data for at least 1 year since the onset of spasms. Patient and treatment variables were recorded, in addition to neurodevelopmental and seizure outcomes. Etiology was strongly associated with motor and cognitive status but

Arthur Partikian; Wendy G. Mitchell



Influence of genotype and infantile trauma on adult learning in the mouse  

Microsoft Academic Search

This investigation was concerned with effects of infantile trauma and hereditary factors upon adult learning in 3 inbred mouse strains. ½ the infant Ss in each strain received traumatic auditory stimulation, and ½ were reared under standard conditions. Adult learning ability was examined by means of repeated trials in a 4-unit alley maze and in a water escape test. Significant

Harvey D. Winston



Infantile deprivation and adult behavior in the rat: retention of increased rate of eating  

Microsoft Academic Search

When adult eating rate in infantile-deprived rats is compared to that of matched controls, a significantly faster eating rate was shown by the experimental groups on the first day of adult deprivation. This difference had disappeared by the 7th trial and no significant differences in hoarding behavior were observed.

Melvin H. Marx



Differential expression of FABP 3, 5, 7 in infantile and adult monkey cerebellum  

Microsoft Academic Search

To clarify the involvement of fatty acid binding proteins (FABPs) in cerebellar development and function, we explored the distribution of three brain-expressed FABPs, FABP 3, 5 and 7, by comparing three animal groups – infantile, normal and postischemic adult monkeys. Immunoblotting analysis revealed intense expression of FABP 3 and 7, but not of FABP5, in the control and postischemic adult

Nadezhda B. Boneva; Yoshimi Mori; Desislav B. Kaplamadzhiev; Hiromu Kikuchi; Hong Zhu; Mitsuru Kikuchi; Anton B. Tonchev; Tetsumori Yamashima



Interactive effects of infantile and adult experiences upon weight gain and mortality in the rat  

Microsoft Academic Search

The effects of infantile handling and adult avoidance training upon body weight and susceptibility to starvation were studied. Handling in the first 20 days of life led to lower weight at 21 days of age; weight at 69 days was a complex function of amount of handling and adult experience. Avoidance learning reduced survival time, but to a lesser extent

Victor H. Denenberg; George G. Karas



Hallervorden-spatz disease—Late infantile and adult types, report of two cases  

Microsoft Academic Search

Two cases of Hallervorden-Spatz disease are reported, one of whom was a late infantile variety and the other an adult variety who died at the end of the fourth decade of life. The clinical and neuropathological aspects were similar to previously reported cases. Both cases were characterized by a slowly progressive illness featured by dementia, seizures, dysarthria, rigidity, spasticity and

B. Rozdilsky; J. N. Cumings; A. F. Huston



218. Gene Therapy and Enzyme Replacement in a Mouse Model of Late Infantile Neuronal Ceroid Lipofuscinosis  

Microsoft Academic Search

Late infantile neuronal ceroid lipofuscinosis (LINCL) is one of a group of autosomal recessive neurodegenerative diseases caused by deficiencies in lysosomal proteins and characterized clinically by progressive motor and cognitive decline, progressive vision loss, intractable seizures, and premature death. Currently available treatments for these disorders are merely supportive and do not alter disease progression, supporting investigations into novel treatments.Enzyme replacement

Michael Chang; David Sleat; Seng Cheng; Marco Passini; Peter Lobel; Beverly L. Davidson



Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms  

PubMed Central

Objective: To provide clinical data on a cohort of 6 patients with massive expansion (>200 CAG repeats) of spinocerebellar ataxia type 2 (SCA2) and investigate possible pathways of pathogenesis using bioinformatics analysis of ATXN2 networks. Methods: We present data on 6 patients with massive expansion of SCA2 who presented in infancy with variable combinations of hypotonia, global developmental delay, infantile spasms, and retinitis pigmentosa. ATXN2 is known to interact with a network of synaptic proteins. To investigate pathways of pathogenesis, we performed bioinformatics analysis on ATXN2 combined with known genes associated with infantile spasms, retinitis pigmentosa, and synaptic function. Results: All patients had a progressive encephalopathy with autonomic dysfunction, 4 had retinitis pigmentosa, and 3 had infantile spasms. The bioinformatics analysis led to several interesting findings. First, an interaction between ATXN2 and SYNJ1 may account for the development of retinitis pigmentosa. Second, dysfunction of postsynaptic vesicle endocytosis may be important in children with this progressive encephalopathy. Infantile spasms may be associated with interactions between ATXN2 and the postsynaptic structural proteins MAGI2 and SPTAN1. Conclusions: Severe phenotype in children with massive expansion of SCA2 may be due to a functional deficit in protein networks in the postsynapse, specifically involving vesicle endocytosis.

Shafrir, Y.; Hrivnak, J.; Patterson, M.C.; Tennison, M.B.; Clark, H.B.; Gomez, C.M.



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



Factors influencing pursuit ability in infantile nystagmus syndrome: Target timing and foveation capability  

Microsoft Academic Search

We wished to determine the influential factors for Infantile Nystagmus Syndrome (INS) subjects’ ability to acquire and pursue moving targets using predictions from the behavioral Ocular Motor System (OMS) model and data from INS subjects. Ocular motor simulations using a behavioral OMS model were performed in MATLAB Simulink. Eye-movement recordings were performed using a high-speed digital video system. We studied

Z. I. Wang; L. F. Dell’Osso



Infantile autism and developmental receptive dysphasia: A comparative follow-up into middle childhood  

Microsoft Academic Search

An interim follow-up study of a group of “higher functioning” boys with infantile autism and control group of boys with severe (receptive) developmental language disorder (or dysphasia) is reported. The boys were compared both initially and at follow-up for overall functioning in the areas of language, peer relationships, stereotyped behaviors, and disruptive public behaviors, as well as for the presence

Dennis P. Cantwell; Lorian Baker; Michael Rutter; Lynn Mawhood



The role of preoperative chemotherapy in the treatment of infantile fibrosarcoma  

Microsoft Academic Search

Infantile fibrosarcoma (IFS) is a rare tumor most often affecting the extremities of infants and young children. Unlike its adult counterpart, IFS has a low potential for metastatic spread, and surgical extirpation alone has therefore resulted in an excellent prognosis. The amputation rate, however, exceeds 50%. The dramatic response in 2 recent cases to preoperative chemotherapy, given in an attempt

Arlet G Kurkchubasche; Eric G Halvorson; Edwin N Forman; Richard M Terek; William S Ferguson



Infantile Myofibroma Eroding into the Frontal Bone: A Case Report and Review of Its Histopathologic Differential Diagnosis  

PubMed Central

Infantile myofibroma is a rare and benign tumour of children presenting in the head and neck region. Rendering a final diagnosis of infantile myofibroma can be challenging in the light of nonspecific clinical, radiological findings and its histopathological similarities with a number of neoplasms especially spindle cell tumours. In this paper we discuss a case of infantile myofibroma in a 2-month-old infant, enumerating the various differential entities that have to be eliminated in reaching its specific diagnosis and highlighting the importance of immunopositivity to vimentin and smooth muscle actin (SMA) in establishing its myofibroblastic differentiation.

Thennavan, Aatish; Narayanaswamy, Venkadasalapathi; Niazi, Thanvir Mohammed; Rao, Lakshmi; Radhakrishnan, Raghu



Erythrocyte Transketolase Activity, Markers of Cardiac Dysfunction and the Diagnosis of Infantile Beriberi  

PubMed Central

Background Infantile beriberi is a potentially lethal manifestation of thiamin deficiency, associated with traditional post-partum maternal food avoidance, which persists in the Lao PDR (Laos). There are few data on biochemical markers of infantile thiamin deficiency or indices of cardiac dysfunction as potential surrogate markers. Methodology/Principal Findings A case control study of 47 infants with beriberi and age-matched afebrile and febrile controls was conducted in Vientiane, Laos. Basal and activated erythrocyte transketolase activities (ETK) and activation (?) coefficients were assayed along with plasma brain natriuretic peptide, N-terminal pro-brain natriuretic peptide and troponin T. Basal ETK (and to a lesser extent activated ETK) and plasma troponin T were the only infant biochemical markers that predicted infantile beriberi. A basal ETK?0.59 micromoles/min/gHb gave a sensitivity (95%CI) of 75.0 (47.6 to 92.7)% and specificity (95%CI) of 85.2 (66.3 to 95.8)% for predicting infantile beriberi (OR (95%CI) 15.9 (2.03–124.2); p?=?0.008) (area under ROC curve?=?0.80). In contrast, the ? coefficient did not discriminate between cases and controls. Maternal basal ETK was linearly correlated with infant basal ETK (Pearson's r?=?0.66, p<0.001). The odds of beriberi in infants with detectable plasma troponin T was 3.4 times higher in comparison to infants without detectable troponin T (OR 3.4, 95%CI 1.22–9.73, p?=?0.019). Detectable troponin T had a sensitivity (95%CI) of 78.6 (59.0 to 91.7) % and specificity (95%CI) of 56.1 (39.7 to 71.5) % for predicting infantile beriberi. Conclusions/Significance Basal ETK is a more accurate biochemical marker of infantile beriberi than the activation coefficient. Raised plasma troponin T may be a useful indicator of infantile beriberi in infants at risk and in the absence of other evident causes.

Soukaloun, Douangdao; Lee, Sue J.; Chamberlain, Karen; Taylor, Ann M.; Mayxay, Mayfong; Sisouk, Kongkham; Soumphonphakdy, Bandit; Latsavong, Khaysy; Akkhavong, Kongsin; Phommachanh, Douangkham; Sengmeuang, Vanmaly; Luangxay, Khonsavanh; McDonagh, Theresa; White, Nicholas J.; Newton, Paul N.



Primary cutaneous malignant melanoma of the breast  

PubMed Central

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

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



Myelodysplasia and malignancy-associated vasculitis.  


While the link between malignancy and vasculitis has been known for some time, the association of vasculitis and myelodysplastic syndrome (MDS) has only recently been reported. This article reviews the most current and landmark publications regarding MDS, as well as malignancy-associated vasculitis. We include theories of paraneoplastic associations, immune pathogenesis including an associated cytokine transcriptional factor (interferon regulatory factor-1 [IFN-1]), and the relationship to treatment. Key clinical features that suggest underlying malignancy in patients with vasculitis are highlighted. Although the association between vasculitis and malignancy is rare, leukocytoclastic vasculitis is the most common vasculitis associated with MDS, hematologic malignancies as well as solid tumors. We review several articles that demonstrate a paraneoplastic association between vasculitis and various malignancies, but overall, the connection is still unclear and not well defined. Certain features that suggest a true paraneoplastic association are outlined. Further studies are needed to advance our understanding of this complex topic. PMID:22821200

Agha, Amir; Bateman, Helen; Sterrett, Ashley; Valeriano-Marcet, Joanne



Malignant small round cell tumors  

PubMed Central

Malignant small round cell tumors are characterised by small, round, relatively undifferentiated cells. They generally include Ewing's sarcoma, peripheral neuroectodermal tumor, rhabdomyosarcoma, synovial sarcoma, non-Hodgkin's lymphoma, retinoblastoma, neuroblastoma, hepatoblastoma, and nephroblastoma or Wilms’ tumor. Other differential diagnoses of small round cell tumors include small cell osteogenic sarcoma, undifferentiated hepatoblastoma, granulocytic sarcoma, and intraabdominal desmoplastic small round cell tumor. Differential diagnosis of small round cell tumors is particularly difficult due to their undifferentiated or primitive character. Tumors that show good differentiation are generally easy to diagnose, but when a tumor is poorly differentiated, identification of the diagnostic, morphological features is difficult and therefore, no definitive diagnosis may be possible. As seen in several study reports, fine needle aspiration cytology (FNAC) has become an important modality of diagnosis for these tumors. The technique yields adequate numbers of dissociated, viable cells, making it ideally suitable for ancillary techniques. Typically, a multimodal approach is employed and the principal ancillary techniques that have been found to be useful in classification are immunohistochemistry and immunophenotyping by flow cytometry, reverse transcriptase polymerase chain reaction (RT-PCR), fluorescence in situ hybridization (FISH), and electron microscopy. However, the recent characterization of chromosomal breakpoints and the corresponding genes involved in malignant small round cell tumors means that it is possible to use molecular genetic approaches for detection.

Rajwanshi, Arvind; Srinivas, Radhika; Upasana, Gautam



Chemotherapy of advanced malignant teratomas.  

PubMed Central

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

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



Oncolytic Virotherapy for Hematological Malignancies  

PubMed Central

Hematological malignancies such as leukemias, lymphomas, multiple myeloma (MM), and the myelodysplastic syndromes (MDSs) primarily affect adults and are difficult to treat. For high-risk disease, hematopoietic stem cell transplant (HCT) can be used. However, in the setting of autologous HCT, relapse due to contamination of the autograft with cancer cells remains a major challenge. Ex vivo manipulations of the autograft to purge cancer cells using chemotherapies and toxins have been attempted. Because these past strategies lack specificity for malignant cells and often impair the normal hematopoietic stem and progenitor cells, prior efforts to ex vivo purge autografts have resulted in prolonged cytopenias and graft failure. The ideal ex vivo purging agent would selectively target the contaminating cancer cells while spare normal stem and progenitor cells and would be applied quickly without toxicities to the recipient. One agent which meets these criteria is oncolytic viruses. This paper details experimental progress with reovirus, myxoma virus, measles virus, vesicular stomatitis virus, coxsackievirus, and vaccinia virus as well as requirements for translation of these results to the clinic.

Bais, Swarna; Bartee, Eric; Rahman, Masmudur M.; McFadden, Grant; Cogle, Christopher R.



Delayed onset malignant hyperthermia after sevoflurane.  


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; Ozatamer, Oya



Rationale for Proton Therapy in Pediatric Malignancies  

NASA Astrophysics Data System (ADS)

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

Woo, Shiao Y.


Multiple primary malignant tumors involving the liver.  


We reviewed 5,680 autopsy protocols from the Black Forest area of West Germany and found 2,005 (35.3%) malignant neoplasms; among them there were 93 cases (4.9%) with 186 (9.3%) multiple primary malignant tumors (MPMTs) arising in two different organs or organ systems. Whereas single primary malignant neoplasms of the liver constituted only 3.4% of the total malignant neoplasms, the liver was involved in 11% cases of MPMTs. We also compiled data on the involvement of other organs with MPMTs. PMID:6322724

Shah, I A; Alfsen, G C



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

SciTech Connect

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

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




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



Molecular diagnostics of hematologic malignancies.  


Hematologic malignancies, particularly lymphoma and leukemia, are a diverse group of diseases with a myriad of different presentations. Although the diagnosis of these diseases can be straightforward, there are many cases in which the diagnosis is difficult to establish with conventional methods. Molecular diagnostic testing to identify oncogenes and clonal lymphocyte populations can aid in resolving ambiguous cases, and several of these tests are routinely available for canine patients. Sensitive polymerase chain reaction-based methods are also useful for answering a variety of research questions. Here, detection of mutations of the c-kit gene in mast cell tumors, the bcr-abl fusion gene in myelogenous leukemias, and clonality of lymphocyte populations for the diagnosis and monitoring of lymphoma and leukemia are discussed. PMID:19732733

Avery, Anne



Trauma--the malignant epidemic.  


Trauma is the commonest cause of death in children and young adults in the USA and the UK and the incidence of both accidental and non-accidental injury continues to increase. In the Western world more pre-retirement years of life are lost annually from trauma than malignant disease, heart disease, and AIDS combined, and by the beginning of the last decade injury deaths outnumbered deaths from all other causes combined in those under 35 years of age. In South Africa, although infectious diseases continue to exact their toll, a similar pattern is emerging. Alcohol and speed are responsible for the majority of motor vehicle accidents, while the increasing ownership of firearms directly parallels the homicide rates from these weapons. Stricter application of the legislation governing alcohol, driving and firearm control is required and a regionalised trauma care programme is desperately needed to contain this epidemic. PMID:1989097

Muckart, D J



Diffuse Malignant Mesothelioma: A Review  

PubMed Central

Diffuse malignant mesothelioma is a signal tumor of asbestos exposure. Mesothelioma incidence has been steadily rising during the past two decades, reflecting the increases in asbestos use during and following World War II. The onset of the disease follows exposure by 25 to 40 years. The dose-response relationship appears to be much lower than that for asbestosis or lung cancer—it is not known whether current levels of exposure will entail a risk for disease 30 years hence. There is no synergistic or additive interaction with smoking for this tumor. Current knowledge indicates that pleural plaques, per se, do not increase the risk for this tumor beyond that of the previous asbestos exposure alone. Durable fibers with high aspect ratios, especially amphiboles, are associated with experimental tumor induction. Treatment modalities including surgical procedures and chemotherapy with doxorubicin and 5-azacytidine offer prospects for palliation. ImagesFigure 1.Figure 2.

Rom, William N.; Lockey, James E.



[PET and malignant cerebral tumors].  


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

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



Malignant hyperthermia in endosulfan poisoning.  


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

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



[Thyroid nodule: benign or malignant?].  


A thyroid nodule is a frequent occurrence. Its prevalence in a general adult population is about 50% and can even reach 67% when a cervical echography is performed. Only 5% of these nodules are cancers, and it is therefore important to avoid an useless and riskful surgery. This presentation is based on the Medical Guidelines for Clinical Practice: American Association of Clinical Endocrinologists (AACE), Associazione Medici Endocrinologi (AME) and European Thyroid Association (ETA) in 2010 for the Diagnosis and Management of Thyroid Nodules. In the absence of prospective randomized studies, these recommendations are established on the best evidence level. The patient history and clinical signs give some informations about potential risks. Thyroid tests not only evaluate thyroid functional status but TSH value and the presence of antithyroglobuline antibody seem to be associated with a higher risk of malignancy. A thyroid scintigraphy detects the presence of hot thyroid nodules. The thyroid echography is a key element before fine needle aspiration cytology. Some echographic criteria in the TIRADS (Thyroid Imaging Reporting and Data System), classification can reach an 88% sensitivity, a 49% specificity, a 49% positive predictive value, an 88% negative predictive value and a 94% diagnostic accuracy. The fine needle aspiration cytology performed with echography will be crucial to decide if the patient is to be eligible for surgery. In 70 to 80% of the cases, nodules can be classified as benign or malignant with a 92% negative predictive value for a benign diagnosis and a 100% positive predictive value for a diagnosis of cancer. The discovery of a follicular proliferation (cancer incidence of 20-30%) is a grey zone. Follicular proliferation and definite cancer lead of course to a surgical option. A decisional tree summarizes the different steps leading to a therapeutic decision. PMID:23091929

Liénart, F



Survey of HBsAg-positive pregnant women and their infants regarding measures to prevent maternal-infantile transmission  

Microsoft Academic Search

BACKGROUND: Intrauterine infection is the main contributor to maternal-infantile transmission of HBV. This is a retrospective study of 158 HBsAg-positive pregnant women who delivered children from Jan 1st, 2004 to Dec.31th, 2006 in Wuhan City, China. We investigated the measures taken to prevent maternal-infantile transmission of hepatitis B virus and the infection status of children. METHODS: HBsAg-positive pregnant women were

Yan Guo; Jianqiong Liu; Liping Meng; Hu Meina; Yukai Du



Rickets and osteopetrosis: the osteosclerotic (oc) mouse.  


A new mouse osteopetrotic mutation, osteosclerosis, has been examined with respect to rickets. These osteopetrotic mice were hypocalcemic and hypophosphatemic, and had greatly thickened epiphyseal plates with abnormalities in matrix vesicles when compared with normal littermates. Such biochemic and morphologic manifestations of rickets in this osteopetrotic mutation may explain the failure of osteosclerotic mice to be cured by transplantation of bone marrow from normal littermates and indicate that vitamin D metabolism and matrix vesicle biochemistry warrant further study. PMID:4064410

Banco, R; Seifert, M F; Marks, S C; McGuire, J L



Gastrointestinal Presentation of Germ Cell Malignancy  

Microsoft Academic Search

Objectives: To summarize monoinstitutional experience with gastrointestinal (GI) presentations of germ cell malignancy and to review recent medical literature on this issue.Methods: Retrospective review of 5 cases with advanced germ cell malignancy (testicular 2 and retroperitoneal 3) and involvement of the upper GI tract and a comparison with published observation.Results: In 4 patients the duodenum and in 1 patient the

C. Nord; S. D. Fosså; K. E. Giercksky



Morphological characteristics of malignant solitary pulmonary nodules.  


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



Inflammatory Demyelinating Disease Mimicking Malignant Glioma  

Microsoft Academic Search

The differential diagnosis between inflammatory demyelinating disease and malignant glioma is difficult based only on neuro- imaging methods. Methods: Four patients with inflammatory demyelinating disease who presented with clinical and neuro- imaging findings strongly suggestive of malignant glioma were examined. Results: MRI showed a mass lesion with prolonged T1 and T2 values and gadolinium enhancement in all cases. Proton MR

Toshiaki Hayashi; Toshihiro Kumabe; Hidefumi Jokura; Kazuo Fujihara; Yusei Shiga; Mika Watanabe; Shu-ichi Higano; Reizo Shirane


Intussusception Presenting with Malignant Hypertension and Lethargy  

PubMed Central

The most common cause of malignant hypertension in children is renal or renovascular pathology. The combination with lethargy suggests a diagnosis of hypertensive crisis with hypertensive encephalopathy. Here, we present a case of severe hypertension with lethargy as the sole presenting symptoms of ileocecal intussusception. Both normalized following surgical repositioning. We conclude that malignant hypertension and lethargy can be presenting symptoms of intussusception.

de Vries, Andra; Ashtiani, Nilou; Ahmadi, Nazanin; Bakx, Roel; de Vaate, Annelies Walrave-bij; Bokenkamp, Arend



Natural history of cutaneous malignant melanoma  

Microsoft Academic Search

The rising incidence of cutaneous malignant melanoma with the consequent increase in mortality from melanoma has intensified efforts to understand the factors that initiate the malignant transformation of melanocytes and to define those tumor-host interactions that play a relevant role in the clinical course of this disease. Increased exposure to solar radiation has been proposed as an explanation for the

Henry A. Briele; T. K. Das Gupta



Risk factors for malignancy in multinodular goitres  

Microsoft Academic Search

Background. Multinodular goitre (MNG) is quite often associated with thyroid carcinoma, but the risk factors for malignancy are not well known. The aim is to analyse patients with thyroid carcinoma associated with MNG to determine the clinical risk factors for malignancy.Method. From a series of 672 MNGs we analysed a subgroup of 59 patients presenting with an associated thyroid carcinoma.

A R??os; J. M Rodr??guez; M Canteras; P. J Galindo; M. D Balsalobre; P Parrilla



Endoscopic laser palliation for advanced malignant dysphagia  

Microsoft Academic Search

Palliative treatment of malignant dysphagia aims to optimise swallowing for the maximum time possible with the minimum of general distress to these seriously ill patients. Thirty four patients considered unsuitable for surgery because of advanced malignancy, other major pathology or in whom previous surgery had been unsuccessful were treated endoscopically with the Nd YAG laser. Significant improvement was achieved in

S G Bown; R Hawes; K Matthewson; C P Swain; H Barr; P B Boulos; C G Clark



Identification of Susceptibility to Malignant Hyperpyrexia  

Microsoft Academic Search

While the serum level of creatine phosphokinase is useful as a screening test for malignant hyperpyrexia it does not provide certain identification of susceptible individuals. A much more accurate prediction may be made by pharmacological testing in vitro of muscle biopsy specimens. Individuals susceptible to malignant hyperpyrexia have muscle with heightened sensitivity to halothane, caffeine, succinylcholine, potassium chloride, and temperature

R. F. W. Moulds; M. A. Denborough



Malignant melanoma involving the small bowel.  

PubMed Central

Small bowel is the commonest site of gastrointestinal metastases from cutaneous malignant melanoma. Five patients with malignant melanoma involving the small bowel are reported. One patient was operated on for suspected acute appendicitis, two patients for gastrointestinal bleeding and two patients for small bowel obstruction. Two patients remain well 4 and 5 years after surgery.

Wilson, B. G.; Anderson, J. R.



Primary Malignant Melanoma of the Nasal Cavity  

Microsoft Academic Search

Malignant melanoma is a highly lethal melanocytic neoplasm, usually affecting the skin. Primary malignant melanoma of the nasal cavity is rarely seen. Clinically, most patients display initial nonspecific symptoms of unilateral nasal obstruction or epistaxis. The prognosis is generally poor, with a mean survival time of 3.5 years. Extensive local invasion and distant metastasis to other organs may occur. The

Chin-Yew Lin; Shih-Wei Yang; Chien-Hong Lai


Preoperative predictors of malignant gastric submucosal tumor  

PubMed Central

Purpose The preoperative prediction of malignant potential in patients with gastric submucosal tumors (SMTs) plays an important role in decisions regarding their surgical management. Methods We evaluated the predictors of malignant gastric SMTs in 314 patients with gastric SMTs who underwent surgery in Chonnam National University Hospital. Results The malignant SMTs were significantly associated with age (odds ratio [OR], 1.067; 95% confidence interval [CI], 1.042 to 1.091; P < 0.0001), presence of central ulceration (OR, 2.690; 95% CI, 1.224 to 5.909; P = 0.014), and tumor size (OR, 1.791; 95% CI, 1.483 to 2.164; P < 0.0001). Receiver operating characteristic curve analysis showed that tumor size was a good predictor of malignant potential. The most relevant predictor of malignant gastric SMT was tumor size with cut-offs of 4.05 and 6.40 cm. Conclusion Our findings indicated that age, central ulceration, and tumor size were significant preoperative predictors of malignant SMTs. We suggest that 4 cm be selected as a threshold value for malignant gastric SMTs. In patients with a gastric SMT larger than 4 cm with ulceration, wide resection of the full thickness of the gastric wall or gastrectomy with adequate margins should be performed because of its malignant potential.

Kim, Ho Goon; Ryu, Seong Yeob; Yun, Sang Kwon; Joo, Jae Kyoon; Lee, Jae Hyuk



A well-known lesion in an unusual location: infantile myofibroma of the eyelid: a case report and review of literature.  


Myofibroma is a neoplasia of myofibroblasts that can be solitary or multiple and it is found most commonly in the head & neck region including scalp, forehead, parotid region and oral cavity. In the eyelid it is rarely reported. It has a benign course in the solitary form and fatal in its multiple form. A 4 month male infant referred to Farabi hospital -the referral center for eye diseases- with a 2 month history of a mass in his eyelid with gradual enlargement with no other complaints. The only abnormal physical finding was a 2.5 cm mass in the eyelid. This mass was excised and sent to the hospital pathology laboratory. When confronting a spindle cell lesion with a nodular or multinodular growth pattern which appears biphasic due to alteration of light and dark staining areas, the surgical pathologist should think to the possibility of myofibroma. Its pattern of growth and architecture rules out the other differential diagnoses like nodular fasciitis, fibrous histiocytoma, infantile fibromatosis, and peripheral primitive neuroectodermal tumor, mesenchymal chondrosarcoma, malignant hemangiopericytoma, juvenile fibrosarcoma and poorly differentiated synovial sarcoma. In difficult cases immunohistochemical staining is helpful that is Vimentin & Actin positivity & Desmin, CK, EMA & S100 negativity. PMID:21287484

Asadi Amoli, Fahimeh; Sina, Amir Hossein; Kasai, Aboulfazl; Ayan, Zahra


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

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



[Malignant mesotheliomas of the tunica vaginalis testis].  


Malignant mesothelioma of the tunica vaginalis is rare, and is usually not diagnosed until surgery is undertaken. We report here a case in a 62-year-old man with malignant mesothelioma tunica vaginalis testis. He was referred to our hospital with a painless swelling of the left scrotal contents. There is a thickening of mesothelia of the tunica vaginalis with left sided hydrocele by ultrasonography and computed tomography scan. The tumor was resected under the diagnosis of testicular malignant tumor. However, the pathologist reported malignant mesothelioma and positive margin. He received external beam radiation therapy at a total dose of 44 Gy. Disease progression was not apparent 2 years after treatment. To our knowledge, 26 cases of malignant mesothelioma in the perineum or intrascrotum have been reported in Japan and this case is thought to be the 27th case in Japan. PMID:24113761

Tei, Hiromoto; Kurahashi, Toshifumi; Maruyama, Satoshi; Tanaka, Hirokazu; Tashiro, Takashi



Malignant Degeneration of Gastric Ulcer  

PubMed Central

Malignant degeneration is the most serious complication of gastric ulcer. Its recognition is difficult both in the early stage and in advanced cases in which only the evidence of a previous ulcer-cavity, and the radiating folds of the mucous membrane indicate progressive development of carcinoma from an original ulcer. It is impossible to say how often gastric ulcer becomes malignant; one can only state the frequency of ulcer-carcinoma, found in gastric resections. One hundred and forty-one personal cases of ulcer-carcinoma are recorded, and are divided into three groups. Group I: 41 which were diagnosed clinically and at operation as cases of ulcer, but in which histological examination showed incipient cancer. Group II: 55 diagnosed clinically as cases of ulcer, but in which a diagnosis of ulcer-carcinoma was made during operation and afterwards histologically confirmed. Group III: 45 diagnosed both clinically and macroscopically (from the typical folding of the mucous membrane) as cases of ulcer-cancer, in which the cancer had entirely overgrown the ulcer. Therefore in the series of 532 resections for gastric ulcer the frequency of ulcer-carcinoma was 20.9%, or 15.2% if the third group is omitted. In a series of 718 resections for gastric cancer, the frequency of ulcer-carcinoma was 19.6% (or 14.2% if the third group is omitted). The mortality in simple two-third resection of the stomach is low (four deaths in 99 cases = 4%). When the pancreas, liver, colon, or œsophagus, is involved, the resection mortality is high (14 deaths in 42 cases = 33.3%), but even in these cases the operation is justifiable because permanent cures were achieved in a number of cases. The prognosis in cases of ulcer-cancer is very grave. In many cases, judging from the author's own experience, patients suffering from incipient ulcer-cancer—only histologically diagnosed as cancer—die from liver metastases, in spite of radical resection. It will thus be seen that the end-results of resection for ulcer-carcinoma are actually worse than those of resection for primary carcinoma. A. Ulcer-cancer: In Group I, 35 cases were operated on before 1933, and in 18 of these (51.4%) the patients have been free from symptoms for more than five years; in Group II, 27 cases were operated on before 1933, and in four of these (14.8%) the patients are still symptom-free. In Group III, out of 37 cases operated on, only two patients (5.4%) have been symptom-free for the same period. B. Primary cancer: Out of 260 cases of resection for primary cancer before 1933, 77 patients (29.6%) are permanently cured. If the ulcer-cancer is so far advanced that the diagnosis can be made clinically, or during operation, the prognosis is extremely bad (permanent cures having been only 9.3% in the series). In cases of gastric ulcer the best plan is to carry out resection before malignant degeneration begins. The result would then be that not merely 51% but at least 90% of the patients would be alive and well after five years. ImagesFig. 1Fig. 2

Finsterer, H.



Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients.  


Pompe disease is a genetic disorder resulting from a deficiency of lysosomal acid alpha-glucosidase (GAA) that manifests as a clinical spectrum with regard to symptom severity and rate of progression. In this study, we used microarrays to examine gene expression from the muscle of two cohorts of infantile-onset Pompe patients to identify transcriptional differences that may contribute to the disease phenotype. We found strong similarities among the gene expression profiles generated from biceps and quadriceps, and identified a number of signaling pathways altered in both cohorts. We also found that infantile-onset Pompe patient muscle had a gene expression pattern characteristic of immature or regenerating muscle, and exhibited many transcriptional markers of inflammation, despite having few overt signs of inflammatory infiltrate. Further, we identified genes exhibiting correlation between expression at baseline and response to therapy. This combined dataset can serve as a foundation for biological discovery and biomarker development to improve the treatment of Pompe disease. PMID:22658377

Palermo, A T; Palmer, R E; So, K S; Oba-Shinjo, S M; Zhang, M; Richards, B; Madhiwalla, S T; Finn, P F; Hasegawa, A; Ciociola, K M; Pescatori, M; McVie-Wylie, A J; Mattaliano, R J; Madden, S L; Marie, S K N; Klinger, K W; Pomponio, R J



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


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



[Study of treatment on acquired infantile mental retardation with traditional Chinese and Western medicine].  


80 cases with acquired infantile mental retardation caused by perinatal brain injury was treated with large doses of hyoscyamus, self made Retarded Recovery Pill and acupuncture. At the same time, 50 cases were taken as control group treated with Nao An Tai, Nao Fu Kang, etc. After 3 month treatment, the Intelligence Quotient (IQ) increased by 15 points in 29 cases of treatment group, while 3 cases in control group, chi 2 = 15.2, P < 0.01. After treatment for 6 month the IQ increased in 41 and 5 cases respectively, t = 5.53, P < 0.01. In 58.75% of the faculty of speech and motion greatly improved. It revealed that to treat the acquired infantile mental retardation, the combined therapy of traditional Chinese and Western medicine is effective. PMID:7719108

Liu, Z H; Song, Z H; Du, N Q



IgE-mediated cow milk allergy and infantile colic: diagnostic and management challenges.  


Cow milk allergy (CMA) is a common problem affecting 2-3% of children and is the most prevalent food allergy in infancy. Infantile colic is also a common problem in the first year of life. A frequent practice among physicians is to recommend a dairy-free diet to breast-feeding mothers and infants in cases of infantile colic. However, recent studies suggest that late introduction of potentially allergenic foods may increase the risk of developing a life-threatening food allergy. We describe two infants managed with dairy-free diet to control symptoms of colic in whom CMA developed. It is possible that unnecessary cow milk restriction may have contributed to the development of food allergy in these infants. PMID:23391944

Al Dhaheri, Watfa; Diksic, Dubravka; Ben-Shoshan, Moshe



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


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

Olivetti, Pedro R; Noebels, Jeffrey L



Spontaneous malignant transformation in craniomaxillofacial fibrous dysplasia.  


Spontaneous malignant transformation in craniomaxillofacial fibrous dysplasia (FD) is extremely rare and its clinicopathological characteristics remain largely unknown. Here, we aimed to characterize the epidemiology and clinicopathological features of malignancies arising from preexisting FD by presenting data from a Chinese tertiary referral hospital and review of English and Chinese literatures. The craniomaxillofacial disease registry of Shanghai Ninth People's Hospital was searched and reviewed to collect relevant information for patients diagnosed as malignant transformation in craniomaxillofacial FD between January 1993 and December 2010. An English and Chinese literature review was conducted to retrieve pertinent cases published in the past 2 decades with preset inclusion criteria. All included cases were further analyzed with regard to associated clinical and pathological variables. Three cases with osteosarcoma arising from previous craniomaxillofacial FD were found at our institution and 35 other cases were identified by literature review. These uncommon entities usually occurred in adults with a mean age of 39.8 years and equal gender preponderance. Maxilla remained the most common sites for malignancies followed by mandible and zygoma. Most malignancies were diagnosed as osteosarcoma followed by fibrosarcoma, chondrosarcoma, and malignant fibrous histiocytoma. Radical resection alone or with postoperative radiotherapy/chemotherapy remains the main treatment strategy with unfavorable prognosis due to local recurrence and distant metastasis. Taken together, our findings might for the first time provide the comprehensive information regarding the epidemiology, clinicopathological features, treatment, and prognosis of malignancies in craniomaxillofacial FD. Further investigations are warranted to improve early diagnosis and proper treatment for these uncommon entities. PMID:23348272

Cheng, Jie; Yu, Hongbo; Wang, Dongmiao; Ye, Jinhai; Jiang, Hongbin; Wu, Yunong; Shen, Guofang



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

Microsoft Academic Search

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

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



Dopa-responsive infantile hypokinetic rigid syndrome due to dominant guanosine triphosphate cyclohydrolase 1 deficiency  

Microsoft Academic Search

We report on a GTP cyclohydrolase 1 mutation-confirmed heterozygous case presenting with an infantile hypokinetic rigid syndrome and delay in attainment of motor milestones starting from the first year of life. He had a family history of dopa-responsive dystonia-parkinsonism. CSF neopterin, biopterin and HVA values were decreased. Molecular study of GCH-1 gene showed the Q89X mutation in exon 1. Treatment

Eduardo López-Laso; Rafael Camino; Maria Elena Mateos; Juan Luis Pérez-Navero; Juan José Ochoa; José Ignacio Lao-Villadóniga; Aida Ormazabal; Rafael Artuch



Successful Treatment of Severe Infantile Hyperekplexia With Low-Dose Clobazam  

Microsoft Academic Search

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

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



Observation on therapeutic effect in treatment of hypoxemic infantile encephalopathy by acupuncture plus hyperbaric oxygen  

Microsoft Academic Search

Objective  To investigate the therapeutic effect of acupuncture plus hyperbaric oxygen in treating hypoxemic infantile encephalopathy (HIE).Methods  Fifty-nine HIE children were divided into treatment (33 cases) and control (26 cases) groups. Both groups were treated by basic therapy of removing acidosis, controlling cerebral edema and convulsion, and intravenous drip of cerebrolysin or citicoline. The treatment group was treated by acupuncture plus hyperbaric

Jin Liu; Feng Guo



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

Microsoft Academic Search

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

Javier Argos



The natural history of somatic morbidity in disintegrative psychosis and infantile autism: a validation study  

Microsoft Academic Search

In order to study the validity of disintegrative psychosis (DP) as defined in ICD-9, we compared the natural history of somatic morbidity of 13 patients given this diagnosis in childhood with a control group of 39 patients with infantile autism (IA) matched for gender, age, IQ and social class. Average follow-up time was 22 and 23 (11–33) years, respectively. Significantly

Svend Erik Mouridsen; Bente Rich; Torben Isager



Les anorexies infantiles : de la naissance à la première enfance  

Microsoft Academic Search

Young child's anorexia (0–4 years) may have organic or psychological origin, when parents–child relationships are concerned. The most complex and earliest forms often have unspecified aetiology. Psychopathological classifications, which emphasize the mother–child relationships, are essential reference marks. But there is now a consensus in the definitions: the diagnosis of infantile anorexia requires criteria of acute or chronic malnutrition. We mainly distinguish

F. Poinso; M. Viellard; D. Dafonseca; J. Sarles



The relationship of breathing pattern to central chemoreceptor activity in infantile apnea  

Microsoft Academic Search

In order to assess the relationship of breathing pattern to the central chemoreceptor activity in infantile apnea, we studied\\u000a 18 infants referred to our regional apnea center with 12 hour nocturnal pneumocardiograms and ventilatory response to 2% and\\u000a 4% carbon dioxide inhalation. 70% of the infants had normal pneumocardiograms and 60% of the infants had normal ventilatory\\u000a response to CO2.

P. Sasidharan



Survival advantage of neonatal CNS gene transfer for late infantile neuronal ceroid lipofuscinosis  

Microsoft Academic Search

Late infantile neuronal ceroid lipofuscinosis (LINCL), a fatal autosomal recessive neurodegenerative lysosomal storage disorder of childhood, is caused by mutations in the CLN2 gene, resulting in deficiency of the protein tripeptidyl peptidase I (TPP-I). We have previously shown that direct CNS administration of AAVrh.10hCLN2 to adult CLN2 knockout mice, a serotype rh.10 adeno-associated virus expressing the wild-type CLN2 cDNA, will

Dolan Sondhi; Daniel A. Peterson; Andrew M. Edelstein; Katrina del Fierro; Neil R. Hackett; Ronald G. Crystal



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

Microsoft Academic Search

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

Brenda Polster; Moira Crosier; Susan Lindsay; Susan Hayflick



Salt Preference in Adolescence Is Predicted by Common Prenatal and Infantile Mineralofluid Loss  

Microsoft Academic Search

Leshem, M. Salt preference in adolescence is predicted by common prenatal or infantile mineralofluid loss. Physiol Behav 63(4) 699–704, 1998. We investigated early determinants of salt preference in humans. In animals, physiological events, among them perinatal mineralofluid loss, contribute to long-term salt intake. Recent findings suggest that in humans prenatal mineralofluid loss (high levels of maternal vomiting) may increase the

Micah Leshem



Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q  

Microsoft Academic Search

Benign familial infantile convulsions (BFIC) are an autosomal-dominant epileptic syndrome characterized by an age of onset within the first year of life. Although they were first reported in families of Italian descent, BFIC have also been described in non-Italian families. We have mapped the BFIC gene to chromosome 19 by linkage analysis in five Italian families with a maximum two-point

Michel Guipponi; François Rivier; Federico Vigevano; Corinne Beck; Arielle Crespel; Bernard Echenne; Pierpaolo Lucchini; Rosella Sebastianelli; Michel Baldy-Moulinier; Alain Malafosse



Infantile systemic hyalinosis: report of three Iranian children and review of the literature  

Microsoft Academic Search

Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disease characterized by diffuse hyaline deposits in the\\u000a skin, gastrointestinal tract, muscle and endocrine glands. The clinical features are evident either at birth or within 6 months\\u000a of life. The disease is manifested by painful progressive joint contractures, thick skin with hyperpigmentation, susceptibility\\u000a to bone fractures, infections, failure to thrive and persistent

Yahya Aghighi; Shahla Bahremand; Laleh Razavi Nematollahi



Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.  


Idiopathic infantile arterial calcification (IIAC; OMIM 208000) is characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. We analyzed affected individuals from 11 unrelated kindreds and found that IIAC was associated with mutations that inactivated ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). This cell surface enzyme generates inorganic pyrophosphate (PP(i)), a solute that regulates cell differentiation and serves as an essential physiologic inhibitor of calcification. PMID:12881724

Rutsch, Frank; Ruf, Nico; Vaingankar, Sucheta; Toliat, Mohammad R; Suk, Anita; Höhne, Wolfgang; Schauer, Galen; Lehmann, Mandy; Roscioli, Tony; Schnabel, Dirk; Epplen, Jörg T; Knisely, Alex; Superti-Furga, Andrea; McGill, James; Filippone, Marco; Sinaiko, Alan R; Vallance, Hillary; Hinrichs, Bernd; Smith, Wendy; Ferre, Merry; Terkeltaub, Robert; Nürnberg, Peter



Management of infantile subglottic hemangioma: laser vaporization, submucous resection, intubation, or intralesional steroids?  

Microsoft Academic Search

The infantile subglottic hemangioma can be treated in various ways. The results of the treatment used in the Sophia Children’s Hospital, intralesional steroids and intubation (IS+I), are discussed and compared with the results of other current treatment methods: CO2 laser vaporization, submucous resection and intubation alone. A total of 18 infants were treated for subglottic hemangioma in our hospital: ten

L. J Hoeve; G. L. E Küppers; C. D. A Verwoerd



Infantile Hypophosphatasia: Transplantation Therapy Trial Using Bone Fragments and Cultured Osteoblasts  

Microsoft Academic Search

Background: Hypophosphatasia (HPP) is a rare, heritable, meta- bolic bone disease due to deficient activity of the tissue-nonspecific isoenzymeofalkalinephosphatase.Theinfantileformfeaturessevere rickets often causing death in the first year of life from respiratory complications. There is no established medical treatment. In 1997, an 8-month-old girl with worsening and life-threatening infantile HPP improved considerably after marrow cell transplantation. Objective: Our aim was to

Richard A. Cahill; Deborah Wenkert; Sharon A. Perlman; Ann Steele; Stephen P. Coburn; William H. McAlister; Steven Mumm; Michael P. Whyte



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

Microsoft Academic Search

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

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



Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma  

Microsoft Academic Search

Infantile hemangiomas are localized and rapidly growing regions of disorganized angiogenesis. We show that expression of vascular endothelial growth factor receptor-1 (VEGFR1) in hemangioma endothelial cells (hemECs) and hemangioma tissue is markedly reduced compared to controls. Low VEGFR1 expression in hemECs results in VEGF-dependent activation of VEGFR2 and downstream signaling pathways. In hemECs, transcription of the gene encoding VEGFR1 (FLT1)

Masatoshi Jinnin; Damian Medici; Lucy Park; Nisha Limaye; Yanqiu Liu; Elisa Boscolo; Joyce Bischoff; Miikka Vikkula; Eileen Boye; Bjorn R Olsen



Desmoplastic infantile ganglioglioma: Report of a case and review of the literature.  


Desmoplastic infantile ganglioglioma (DIG) is a rare supratentorial brain tumor occurring mostly before the age of 2 years. It has a good prognosis and total excision of the tumor is curative, necessitating no further treatment. An accurate pathologic diagnosis is crucial. Until now, <60 cases of this tumor type have been reported. Herein, we report a 3-month-old boy with intractable seizure who was found to have DIG after surgery. PMID:21042508

Geramizadeh, Bita; Kamgarpour, Ahmad; Moradi, Ali



Hypothesis: Is infantile autism a hypoglutamatergic disorder? Relevance of glutamate – serotonin interactions for pharmacotherapy  

Microsoft Academic Search

Summary.   Based on 1) neuroanatomical and neuroimaging studies indicating aberrations in brain regions that are rich in glutamate neurons\\u000a and 2) similarities between symptoms produced by N-methyl-D-aspartate (NMDA) antagonists in healthy subjects and those seen\\u000a in autism, it is proposed in the present paper that infantile autism is a hypoglutamatergic disorder. Possible future pharmacological\\u000a interventions in autism are discussed in

M. L. Carlsson



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


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

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



Postmortem mRNA quantification for investigation of infantile death: A comparison with adult cases  

Microsoft Academic Search

Previous studies suggested the diagnostic significance of postmortem mRNA quantification in investigating the death process. The present study investigated infantile cases compared with adult cases. Autopsy cases (n=58, within 48h postmortem) comprised infants (<1year of age: mechanical asphyxiation, n=5; pulmonary infection, n=14), elderly children (2–8years of age; pulmonary infection, n=3), and adults (>20years of age: mechanical asphyxiation, n=21; pulmonary infection,

Dong Zhao; Takaki Ishikawa; Li Quan; Tomomi Michiue; Chiemi Yoshida; Ayumi Komatu; Jian-Hua Chen; Qi Wang; Bao-Li Zhu; Hitoshi Maeda



Developmental changes in LH secretion by male pituitaries in vitro: from the infantile to adult period  

Microsoft Academic Search

The secretion of LH from the anterior pituitary of male rats was studied at diVerent periods of postnatal development. According to an established classification we used rats 14 (infantile), 23 (juvenile), 45 (pubertal) and 90 (adult) days old. By using an in vitro incubation system, both basal and stimulated LH secretion were studied in the same gland. Age-related diVerences were

J Bello-Pineda; J Luna; M C Romano; M E Mendoza



Infantile Fibromatosis of the Neck with Intracranial Involvement: MR and CT Findings  

Microsoft Academic Search

Summary: CT and MR imaging studies were performed in a 3-year-old boy with infantile fibromatosis arising from the infratemporal fossa and extending into the middle cranial fossa. On CT scans, the lesion was hyperattenuating (44-49 Hounsfield units (HU)), enhancing significantly after appli- cation of contrast material (63-66 HU). The MR images showed a multilobulated lesion of heterogeneous signal in- tensity.

Sebastian Flacke; Dirk Pauleit; Ewald Keller; Giesela Knoepfle; Jochen Textor; Claudia Leutner; Hans H. Schild


Malignant transformation of human fibroblasts in vitro  

SciTech Connect

Although carcinogens cause human tumors, human cells in culture have not been successfully transformed to malignancy by exposure to carcinogens. It is now recognized that malignant transformation involves multiple changes within a cell and, therefore, successive clonal selection of cells containing such changes must occur. One explanation for the failure to induce in vitro malignant transformation of human cells could be inability to recognize cells that have undergone intermediate changes so as to expand the population, expose the cells a second time, cause further changes, etc. therefore, we transfected finite life span diploid human fibroblists with oncogenes known to be active in cells derived from human fibrosarcomas or effective in transforming animal fibroblasts to determine the phenotypes they produced. Transfection of a sis gene, or an H-, or H-ras oncogene caused the cells to acquire many characteristics of malignant cells, but not to acquire an infinite lift span or become malignant. We recently succeeded in developing an infinite life span human fibroblasts cell strain, designated MSU-1.1, which has a stable, near-diploid karyotype, composed of 45 chromosomes including two marker chromosomes. We have shown-that these cells can be transformed to malignancy by transfection of the H-, K-, or N-ras or the v-fes oncogene. All of the malignant H-, K-, or N-ras transfected derivatives examined have exhibited the stable karyotype of the parental MSU-1.1 cells. We have also found rare spontaneous clonal variants of MSU-1.1 that are malignantly transformed and have shown that malignant variants can also be induced by carcinogen treatment.

McCormick, J.J.; Maher, V.M.



Malignant transformation of human fibroblasts in vitro  

SciTech Connect

Although carcinogens cause human tumors, human cells in culture have not been successfully transformed to malignancy by exposure to carcinogens. It is now recognized that malignant transformation involves multiple changes within a cell and, therefore, successive clonal selection of cells containing such changes must occur. One explanation for the failure to induce in vitro malignant transformation of human cells could be inability to recognize cells that have undergone intermediate changes so as to expand the population, expose the cells a second time, cause further changes, etc. therefore, we transfected finite life span diploid human fibroblists with oncogenes known to be active in cells derived from human fibrosarcomas or effective in transforming animal fibroblasts to determine the phenotypes they produced. Transfection of a sis gene, or an H-, or H-ras oncogene caused the cells to acquire many characteristics of malignant cells, but not to acquire an infinite lift span or become malignant. We recently succeeded in developing an infinite life span human fibroblasts cell strain, designated MSU-1.1, which has a stable, near-diploid karyotype, composed of 45 chromosomes including two marker chromosomes. We have shown-that these cells can be transformed to malignancy by transfection of the H-, K-, or N-ras or the v-fes oncogene. All of the malignant H-, K-, or N-ras transfected derivatives examined have exhibited the stable karyotype of the parental MSU-1.1 cells. We have also found rare spontaneous clonal variants of MSU-1.1 that are malignantly transformed and have shown that malignant variants can also be induced by carcinogen treatment.

McCormick, J.J.; Maher, V.M.



Esophageal malignancy: A growing concern  

PubMed Central

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

Chai, Jianyuan; Jamal, M Mazen



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.