A paradoxical presentation of rickets and secondary osteomyelitis of the jaw in Type II autosomal dominant osteopetrosis: Rare case reports.

PubMed

Jayachandran, S; Kumar, M Suresh

2016-01-01

Osteopetrosis is a rare genetic bone disorder arising due to a defect in the differentiation or function of osteoclast which results in a generalized increase in bone mass. Osteomyelitis is one of the most common complications because of decreased bone marrow function and compromised blood supply. Radiologist plays a vital role in diagnosing osteopetrosis. Here, we present two cases of autosomal dominant osteopetrosis Type II (ADO II) with secondary osteomyelitis changes which were reported to our department. One of these two cases presented with secondary osteomyelitis in both maxilla and mandible and features of rickets, which is very rarely seen in ADO II. To the best of our knowledge, the presentation of rickets with ADO is the first of its kind to be reported. In this paper, we describe the clinical and radiological features leading to the diagnosis of ADO in these two patients. Further, a review of the literature regarding ADO is discussed.

Legg-Calvé-Perthes disease in a child with osteopetrosis

PubMed Central

Sims, Alex L.; Barwick, Thomas W.; Montgomery, Richard J.

2011-01-01

Osteopetrosis is a rare inherited disorder of bone causing increased bone density. Legg-Calvé-Perthes disease (LCPD), by contrast, is a more common idiopathic condition leading to variable avascular necrosis of the immature femoral head. We present a case of a 5-year-old boy presenting with these co-morbidities. We have found only one previous reference suggesting these two conditions can coexist in the literature. We discuss the basic principles of management of this interesting case. PMID:24765380

Measurement of Bone Growth in Osteopetrosis

PubMed Central

Sanger, V. L.; Frederickson, T. N.; Morrill, C. C.

1964-01-01

Day-old chicks were injected with 0.2 ml. of a suspension of lymphomatosis virus which was known to cause osteopetrosis in a high percentage of susceptible birds. A comparable number of uninoculated chicks were kept for controls. Alizarin red S was administered for the purpose of marking the bones in order to measure the rate of growth of normal bone and the osteopetrotic bone. The dye was given at 27, 41 and 55 days of age. In this experiment it was found that a layer of normal bone was formed on the surface of the tibia at a rate of 0.25 mm. per week but in the largest osteopetrotic lesion that was found in any chicken spongy bone was formed at a rate greater than 1 mm. per week. Alizarin red S was irritating to tissue and was toxic when given intravenously. ImagesFig. 1.Fig. 2. PMID:17649533

Genetics Home Reference: malignant migrating partial seizures of infancy

MedlinePlus

... of infancy (MMPSI) is a severe form of epilepsy that begins very early in life. Recurrent seizures ... infantile epileptic encephalopathy 14 EIEE14 malignant migrating partial epilepsy of infancy migrating partial epilepsy of infancy migrating ...

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

PubMed

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

2014-01-01

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. © 2013 Wiley Periodicals, Inc.

Role of RANKL (TNFSF11)-dependent osteopetrosis in the dental phenotype of Msx2 null mutant mice.

PubMed

Castaneda, Beatriz; Simon, Yohann; Ferbus, Didier; Robert, Benoit; Chesneau, Julie; Mueller, Christopher; Berdal, Ariane; Lézot, Frédéric

2013-01-01

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

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

PubMed Central

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

2013-01-01

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

Infantile spasms.

PubMed

Hrachovy, Richard A; Frost, James D

2013-01-01

Infantile spasms are a unique disorder of infancy and early childhood. The average age at onset of infantile spasms is 6 months and the average incidence of the disorder is approximately 0.31 per 1000 live births. Approximately one-quarter of patients will spontaneously stop having spasms within 1 year of onset. There are three main types of epileptic spasms: flexor, extensor, and mixed flexor-extensor. Spasms frequently occur in clusters and commonly occur upon arousal from sleep. The motor spasms are frequently confused with other normal and abnormal infant behaviors. Typically, the interictal EEG reveals hypsarrhythmia or one of its variants. A variety of ictal EEG patterns may be seen, the most common of which is a generalized slow-wave transient followed by an attenuation of the background activity in all regions. The primary treatment objective is to improve the EEG and stop the spasms as soon as possible and to avoid prolonged treatment durations with any form of therapy. Currently, there is no conclusive evidence that medical or surgical treatment of infantile spasms significantly alters long-term outcome. Although the pathophysiological mechanism underlying infantile spasms is unknown, several animal models of infantile spasms have been developed in recent years. Copyright © 2013 Elsevier B.V. All rights reserved.

Infantile botulism.

PubMed

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

1988-04-01

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.

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

PubMed Central

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

2008-01-01

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

DOE Office of Scientific and Technical Information (OSTI.GOV)

Smirnova, Anna S.; Morgun, Andrey; Shulzhenko, Natalia

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

Infantilism: Theoretical Construct and Operationalization

ERIC Educational Resources Information Center

Sabelnikova, Y. V.; Khmeleva, N. L.

2018-01-01

The aim of this article is to define and operationalize the construct of infantilism. The methods of theoretical research involve analysis and synthesis. Age and content criteria are analyzed for childhood and adulthood. Infantile traits in an adult are described. Results: The characteristics of adult infantilism in the modern world are defined,…

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

PubMed

Leaute-Labreze, Christine

2014-12-01

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

Analysis of preexistent vertebral rotation in the normal infantile, juvenile, and adolescent spine.

PubMed

Janssen, Michiel M A; Kouwenhoven, Jan-Willem M; Schlösser, Tom P C; Viergever, Max A; Bartels, Lambertus W; Castelein, René M; Vincken, Koen L

2011-04-01

Vertebral rotation was systematically analyzed in the normal, nonscoliotic thoracic spine of children aged 0 to 16 years. Subgroups were created to match the infantile, juvenile, and adolescent age groups according to the criteria of the Scoliosis Research Society. To determine whether a distinct pattern of vertebral rotation in the transverse plane exists in the normal, nonscoliotic infantile, juvenile, and adolescent spine. We assume that, once the spine starts to deteriorate into a scoliotic deformity, it will follow a preexisting rotational pattern. Recently, we identified a rotational pattern in the normal nonscoliotic adult spine that corresponds to the most common curve types in adolescent idiopathic scoliosis. In infantile idiopathic scoliosis, curves are typically left sided and boys are affected more often than girls, whereas in adolescent idiopathic scoliosis, the thoracic curve is typically right sided and predominantly girls are affected. The present study is the first systematic analysis of vertebral rotation in the normal children's spine. Vertebral rotation in the transverse plane of T2-T12 was measured by using a semiautomatic method on 146 computed tomographic scans of children (0-16 years old) without clinical or radiologic evidence of spinal pathology. Scans were mainly made for reasons such as recurrent respiratory tract infections, malignancies, or immune disorders. Vertebral rotational patterns were analyzed in the infantile (0-3-year-old), juvenile (4-9-year-old), and adolescent (10-16-year-old) boys and girls. In the infantile spine, vertebrae T2-T6 were significantly rotated to the left (P < 0.001). In the juvenile spine, T4 was significantly rotated to the left. In the adolescent spine, T6-T12 were significantly rotated to the right (P ≤ 0.001). Rotation to the left was more pronounced in infantile boys than in the girls (P = 0.023). In juvenile and adolescent children, no statistical differences in rotation were found between the sexes

Unidirectional x-ray microbeam radiosurgery of infantile neuraxial malignancies: estimations of tolerable valley doses

NASA Astrophysics Data System (ADS)

Hanson, A. L.; Slatkin, D. N.; Laissue, J. A.

2013-03-01

intractable human infantile neuraxial malignancies.

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

PubMed Central

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

2013-01-01

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

Genetics Home Reference: early infantile epileptic encephalopathy 1

MedlinePlus

... infantile epileptic encephalopathy 1 Early infantile epileptic encephalopathy 1 Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Early infantile epileptic encephalopathy 1 (EIEE1) is ...

Interferon Gamma-1b Injection

MedlinePlus

... in people with severe, malignant osteopetrosis (an inherited bone disease). Interferon gamma-1b is in a class of ... you may have flu-like symptoms such as headache, fever, chills, muscle aches, and tiredness after your ...

Neonatal and infantile acne vulgaris: an update.

PubMed

Serna-Tamayo, Cristian; Janniger, Camila K; Micali, Giuseppe; Schwartz, Robert A

2014-07-01

Acne may present in neonates, infants, and small children. Neonatal and infantile acne vulgaris are not considered to be rare. The presentation of acne in this patient population sometimes represents virilization and may portend later development of severe adolescent acne. Neonatal and infantile acne vulgaris must be distinguished from other cutaneous disorders seen in newborns and infants. Infantile acne tends to be more pleomorphic and inflammatory, thus requiring more vigorous therapy than neonatal acne.

[Spanish consensus on infantile haemangioma].

PubMed

Baselga Torres, Eulalia; Bernabéu Wittel, José; van Esso Arbolave, Diego L; Febrer Bosch, María Isabel; Carrasco Sanz, Ángel; de Lucas Laguna, Raúl; Del Pozo Losada, Jesús; Hernández Martín, Ángela; Jiménez Montañés, Lorenzo; López Gutiérrez, Juan Carlos; Martín-Santiago, Ana; Redondo Bellón, Pedro; Ruíz-Canela Cáceres, Juan; Torrelo Fernández, Antonio; Vera Casaño, Ángel; Vicente Villa, María Asunción

2016-11-01

Infantile haemangiomas are benign tumours produced by the proliferation of endothelial cells of blood vessels, with a high incidence in children under the age of one year (4-10%). It is estimated that 12% of them require treatment. This treatment must be administered according to clinical practice guidelines, expert experience, patient characteristics and parent preferences. The consensus process was performed by using scientific evidence on the diagnosis and treatment of infantile haemangiomas, culled from a systematic review of the literature, together with specialist expert opinions. The recommendations issued were validated by the specialists, who also provided their level of agreement. This document contains recommendations on the classification, associations, complications, diagnosis, treatment, and follow-up of patients with infantile haemangioma. It also includes action algorithms, and addresses multidisciplinary management and referral criteria between the different specialities involved in the clinical management of this type of patient. The recommendations and the diagnostic and therapeutic algorithms of infantile haemangiomas contained in this document are a useful tool for the proper management of these patients. Copyright © 2015 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

Osteopetrosis and thalamic hypomyelinosis with synaptic degeneration in DAP12-deficient mice

PubMed Central

Kaifu, Tomonori; Nakahara, Jin; Inui, Masanori; Mishima, Kenichi; Momiyama, Toshihiko; Kaji, Mitsuji; Sugahara, Akiko; Koito, Hisami; Ujike-Asai, Azusa; Nakamura, Akira; Kanazawa, Kiyoshi; Tan-Takeuchi, Kyoko; Iwasaki, Katsunori; Yokoyama, Wayne M.; Kudo, Akira; Fujiwara, Michihiro; Asou, Hiroaki; Takai, Toshiyuki

2003-01-01

Deletions in the DAP12 gene in humans result in Nasu-Hakola disease, characterized by a combination of bone fractures and psychotic symptoms similar to schizophrenia, rapidly progressing to presenile dementia. However, it is not known why these disorders develop upon deficiency in DAP12, an immunoreceptor signal activator protein initially identified in the immune system. Here we show that DAP12-deficient (DAP12–/–) mice develop an increased bone mass (osteopetrosis) and a reduction of myelin (hypomyelinosis) accentuated in the thalamus. In vitro osteoclast induction from DAP12–/– bone marrow cells yielded immature cells with attenuated bone resorption activity. Moreover, immature oligodendrocytes were arrested in the vicinity of the thalamus, suggesting that the primary defects in DAP12–/– mice are the developmental arrest of osteoclasts and oligodendrocytes. In addition, the mutant mice also showed synaptic degeneration, impaired prepulse inhibition, which is commonly observed in several neuropsychiatric diseases in humans including schizophrenia, and aberrant electrophysiological profiles in the thalami. These results provide a molecular basis for a unique combination of skeletal and psychotic characteristics of Nasu-Hakola disease as well as for schizophrenia and presenile dementia. PMID:12569157

Detailed Magnetic Resonance Imaging (MRI) Analysis in Infantile Spasms.

PubMed

Harini, Chellamani; Sharda, Sonal; Bergin, Ann Marie; Poduri, Annapurna; Yuskaitis, Christopher J; Peters, Jurriaan M; Rakesh, Kshitiz; Kapur, Kush; Pearl, Phillip L; Prabhu, Sanjay P

2018-05-01

To evaluate initial magnetic resonance imaging (MRI) abnormalities in infantile spasms, correlate them to clinical characteristics, and describe repeat imaging findings. A retrospective review of infantile spasm patients was conducted, classifying abnormal MRI into developmental, acquired, and nonspecific subgroups. MRIs were abnormal in 52 of 71 infantile spasm patients (23 developmental, 23 acquired, and 6 nonspecific) with no correlation to the clinical infantile spasm characteristics. Both developmental and acquired subgroups exhibited cortical gray and/or white matter abnormalities. Additional abnormalities of deep gray structures, brain stem, callosum, and volume loss occurred in the structural acquired subgroup. Repeat MRI showed better definition of the extent of existing malformations. In structural infantile spasms, developmental/acquired subgroups showed differences in pattern of MRI abnormalities but did not correlate with clinical characteristics.

The Link Between Infantile Colic and Migraine.

PubMed

Qubty, William; Gelfand, Amy A

2016-05-01

Infantile colic is a self-limiting disorder of excessive infant crying or fussiness that peaks at 6 weeks of age and typically improves by 3 months of age. The etiology of infantile colic has yet to be definitively elucidated, but there is increasing research to support its relationship to migraine. The aims of this review are to present recent research investigating the connection between infantile colic and migraine. The importance of identifying this connection is useful in reducing invasive and potentially harmful investigations and to identify age appropriate pharmacologic interventions that would be safe in this population.

Infantile methemoglobinemia: reexamining the role of drinking water nitrates.

PubMed

Avery, A A

1999-07-01

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

Neonatal jaundice: a risk factor for infantile autism?

PubMed

Maimburg, Rikke Damkjaer; Vaeth, Michael; Schendel, Diana Elizabeth; Bech, Bodil Hammer; Olsen, Jørn; Thorsen, Poul

2008-11-01

In a previous study, we found that infants transferred to a neonatal ward after delivery had an almost twofold increased risk of being diagnosed with infantile autism later in childhood in spite of extensive controlling of obstetric risk factors. We therefore decided to investigate other reasons for transfer to a neonatal ward, in particular hyperbilirubinaemia and neurological abnormalities. We conducted a population-based matched case-control study of 473 children with autism and 473 matched controls born from 1990 to 1999 in Denmark. Cases were children reported with a diagnosis of infantile autism in the Danish Psychiatric Central Register. Conditional logistic regression was used to calculate odds ratios (OR) and 95% confidence intervals [CI] and likelihood ratio tests were used to test for effect modification. We found an almost fourfold risk for infantile autism in infants who had hyperbilirubinaemia after birth (OR 3.7 [95% CI 1.3, 10.5]). In stratified analysis, the association appeared limited to term infants (>or=37 weeks gestation). A strong association was also observed between abnormal neurological signs after birth and infantile autism, especially hypertonicity (OR 6.7 [95% CI 1.5, 29.7]). No associations were found between infantile autism and low Apgar scores, acidosis or hypoglycaemia. Our findings suggest that hyperbilirubinaemia and neurological abnormalities in the neonatal period are important factors to consider when studying causes of infantile autism.

Part Two: Infantile Spasms--The New Consensus

ERIC Educational Resources Information Center

Pellock, John M.; O'Hara, Kathryn

2011-01-01

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

Infantile methemoglobinemia: reexamining the role of drinking water nitrates.

PubMed Central

Avery, A A

1999-01-01

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

The association between infantile postural asymmetry and unsettled behaviour in babies.

PubMed

Ellwood, Julie; Ford, Michael; Nicholson, Alf

2017-12-01

Unsettled infant behaviour is a common problem of infancy without known aetiology or clearly effective management. Some manual therapists propose that musculoskeletal dysfunction contributes to unsettled infant behaviour, yet reported improvement following treatment is anecdotal. The infantile postural asymmetry measurement scale is a tool which measures infantile asymmetry, a form of musculoskeletal dysfunction. The first part of the study aimed to investigate its reliability and validity for measuring infantile postural asymmetry. This study also aimed to investigate whether there was an association between infantile postural asymmetry and unsettled infant behaviour and whether an association was mediated by, or confounded with, the demographic variables of age, sex, parity, birth weight and weight gain in 12- to 16-week-old infants. Fifty-eight infants were recruited and a quantitative cross-sectional observational design was used. An association between unsettled behaviour and infantile postural asymmetry was not found. A significant difference between high and low cervical rotation deficit groups for surgency was detected in female babies and needs further examination. Questions remain regarding the construct validity of the infantile postural asymmetry scale. No association between unsettled infant behaviour and infantile postural asymmetry was found in 12- to 16-week-old infants. The influence of sex on the interaction between infantile postural asymmetry and infant behaviour needs further examination. An association between unsettled infant behaviour and infantile postural asymmetry is still unproven. What is known: • Unsettled infant behaviour has a considerable impact on many family situations. • Identifying a definitive cause has been a source of much examination and research. Many different hypotheses have been suggested yet much is still unknown. What is new: • The association between unsettled infant behaviour and infantile postural asymmetry is

Extraocular Muscles in Patients With Infantile Nystagmus

PubMed Central

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

2013-01-01

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

Infantile myofibromatosis.

PubMed

Larralde, Margarita; Ferrari, Bruno; Martinez, Juan Pablo; Barbieri, María Angélica Fernández; Méndez, José Higinio; Casas, José

2017-01-01

Infantile myofibromatosis is a mesenchymal disorder characterized by the fibrous proliferation of the skin, bone, muscle and viscera. It is the most common fibrous tumor in childhood. We present a newborn with skin and bone disease without visceral involvement, who showed good response to vinblastine and methotrexate. Clinical features, etiology, diagnosis, and treatment are reviewed.

Physiological Regulation and Infantile Anorexia: A Pilot Study

ERIC Educational Resources Information Center

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

2004-01-01

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

Histidinemia and Infantile Autism

ERIC Educational Resources Information Center

Kotsopoulos, S.; Kutty, K. M.

1979-01-01

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

Similarities and differences between infantile and early childhood onset vanishing white matter disease.

PubMed

Zhou, Ling; Zhang, Haihua; Chen, Na; Zhang, Zhongbin; Liu, Ming; Dai, Lifang; Wang, Jingmin; Jiang, Yuwu; Wu, Ye

2018-06-01

Vanishing white matter disease (VWM) is one of the most prevalent inherited leukoencephalopathies in childhood. Infantile VWM is more severe but less understood than the classic early childhood type. We performed a follow-up study on 14 infantile and 26 childhood patients to delineate the natural history and neuroimaging features of VWM. Infantile and childhood patients shared similarities in the incidence of epileptic seizure (35.7 vs. 38.5%) and episodic aggravation (92.9 vs. 84.6%). Developmental delay before disease onset was more common in infantile patients. Motor disability was earlier and more severe in infantile VWM. In survivors with disease durations of 1-3 years, the Gross Motor Function Classification System (GMFCS) was classified as IV-V in 66.7% of infantile and only 29.4% of childhood patients. Kaplan-Meier survival curve analysis indicated that the 5-year survival rates were 21.6 and 91.3% in infantile and childhood VWM, respectively. In terms of MRI, infantile patients showed more extensive involvement and earlier rarefaction, with more common involvement of subcortical white matter, internal capsule, brain stem and dentate nuclei of the cerebellum. Restricted diffusion was more diffuse or extensive in infantile patients. In addition, four novel mutations were identified. In conclusion, we identified some similarities and differences in the natural history and neuroimaging features between infantile and early childhood VWM.

Is Infantile Colic an Early Life Expression of Childhood Migraine?

PubMed Central

TABRIZI, Manijeh; BADELI, Hamidreza; HASSANZADEH RAD, Afagh; AMINZADEH, Vahid; SHOKUHIFARD, Ali

2017-01-01

Objective Migraine is the mosyndrome and infantile colic is a common cause of infantile cry. The pathogenesis of migraine and colic has not been well established and different factors may cause them. There is an association between infantile colic and the occurrence of childhood migraine. We aimed to assess whether infantile colic could be noted as an early life expression of childhood migraine or not. Materials & Methods This retrospective case-control study was conducted on 5-15-year-old childrenin Rasht, Iran during 2015-2016. Forty-one cases were children with migraine with or without aura. Overall, 123 Control participants were children with the same age referred to the pediatric clinic for routine care. Data were gathered by a checklist including age, sex, birth weight, family history of migraine, the occurrence of colic and type of feeding during infancy. Data were reported by descriptive statistics and analyzed by Fisher exact test using SPSS ver. 19 Results Overall, 164 children with the mean age of 8.36± 2.53 yr were enrolled. Seventeen (41.46%) children with migraine vs. 44 (35.7%) children in control group had the positive history of infantile colic and Fisher exact test noted significant relation between migraine and colic. Thirty-three children with infantile colic (46.57%) had the positive family history of migraine, which was significantly higher than 27 children without colic (29.7%). There was a significant relation between infantile feeding and migraine. Conclusion There is a probable relation between colic and migraine, therefore, migraine and colic as 2 pain syndromes may have a common pathophysiology and further investigations on this common pathophysiology is justified. PMID:28883875

Outcomes after Unrelated Umbilical Cord Blood Transplantation for Children with Osteopetrosis.

PubMed

Chiesa, Robert; Ruggeri, Annalisa; Paviglianiti, Annalisa; Zecca, Marco; Gónzalez-Vicent, Marta; Bordon, Victoria; Stein, Jerry; Lawson, Sarah; Dupont, Sophie; Lanino, Edoardo; Abecasis, Manuel; Al-Seraihy, Amal; Kenzey, Chantal; Bierings, Marc; Locatelli, Franco; Gluckman, Eliane; Schulz, Ansgar; Gennery, Andrew; Page, Kristin; Kurtzberg, Joanne; Rocha, Vanderson

2016-11-01

Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for most children with osteopetrosis (OP). Timing of HSCT is critical; therefore, umbilical cord blood transplantation (UCBT) is an attractive option. We analyzed outcomes after UCBT in 51 OP children. Median age at UCBT was 6 months. Seventy-seven percent of the cord blood grafts had 0 or 1 HLA disparity with the recipient. Conditioning regimen was myeloablative (mostly busulfan-based in 84% and treosulfan-based in 10%). Antithymocyte globulin was given to 90% of patients. Median number of total nucleated and CD34 + cells infused was 14 × 10 7 /kg and 3.4 × 10 5 /kg, respectively. Median follow-up for survivors was 74 months. Cumulative incidence (CI) of neutrophil recovery was 67% with a median time to recovery of 23 days; 33% of patients had graft failure, 81% of engrafted patients had full donor engraftment, and 19% had mixed donor chimerism. Day 100 CI of acute graft-versus-host disease (grades II to IV) was 31% and 6-year CI of chronic graft-versus-host disease was 21%. Mechanical ventilation was required in 28%, and veno-occlusive disease was diagnosed in 16% of cases. Six-year overall survival rate was 46%. Comparative studies with other alternative donors should be performed to evaluate whether UCBT remains a valid alternative for children with OP without an HLA-matched donor. Copyright © 2016 The American Society for Blood and Marrow Transplantation. Published by Elsevier Inc. All rights reserved.

Hand activities in infantile masturbation: a video analysis of 13 cases.

PubMed

Hansen, Jonas Kjeldbjerg; Balslev, Thomas

2009-11-01

Infantile masturbation is considered a variant of normal behaviour. The abrupt and spontaneous onset, altered sensorium and autonomic phenomena during episodes may suggest an epileptic fit. Therefore, children with infantile masturbation are often admitted to hospital and undergo unnecessary tests. The purpose of the present study was to provide a detailed description of hand activities in infantile masturbation. The authors reviewed video recordings of 2 boys and 11 girls with infantile masturbation. Position, movements and activities of hands and fingers during episodes were registered. Five patterns of hand activities were registered: Fisting (four infants), grasping of toys, furniture or clothing (ten infants), chorea-like "piano playing" hand movements (two infants), pressure over the diaper/genital region (one infant) and bimanual manipulation of items (four infants). Fisting was primarily observed in the younger infants, and bimanual manipulation was primarily seen in the older infants. Recognizing one or more of the five distinct patterns of hand activities in infantile masturbation may help establishing the diagnosis.

Preclinical Screening for Treatments for Infantile Spasms in the Multiple Hit Rat Model of Infantile Spasms: An Update.

PubMed

Galanopoulou, Aristea S; Mowrey, Wenzhu B; Liu, Wei; Li, Qianyun; Shandra, Oleksii; Moshé, Solomon L

2017-07-01

Infantile spasms are the typical seizures of West syndrome, an infantile epileptic encephalopathy with poor outcomes. There is an increasing need to identify more effective and better tolerated treatments for infantile spasms. We have optimized the rat model of infantile spasms due to structural etiology, the multiple-hit rat model, for therapy discovery. Here, we test three compounds administered after spasms induction in the multiple hit model for efficacy and tolerability. Specifically, postnatal day 3 (PN3) male Sprague-Dawley rats were induced by right intracerebral injections of doxorubicin and lipopolysaccharide. On PN5 p-chlorophenylalanine was given intraperitoneally (i.p.). Daily monitoring of weights and developmental milestones was done and rats were intermittently video monitored. A blinded, randomized, vehicle-controlled study design was followed. The caspase 1 inhibitor VX-765 (50-200 mg/kg i.p.) and the GABA B receptor inhibitor CGP35348 (12.5-100 mg/kg i.p.) each was administered in different cohorts as single intraperitoneal injections on PN4, using a dose- and time-response design with intermittent monitoring till PN5. 17β-estradiol (40 ng/g/day subcutaneously) was given daily between PN3-10 and intermittent monitoring was done till PN12. None of the treatments demonstrated acute or delayed effects on spasms, yet all were well tolerated. We discuss the implications for therapy discovery and challenges of replication trials.

Infantile masturbation and paroxysmal disorders.

PubMed

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

2008-02-01

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

CSF B-Endorphin Levels in Patients with Infantile Autism.

ERIC Educational Resources Information Center

Nagamitsu, Shinichiro; And Others

1997-01-01

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

[Which treatments for infantile colics?].

PubMed

Bruyas-Bertholon, Virginie; Lachaux, Alain; Dubois, Jean-Pierre; Fourneret, Pierre; Letrilliart, Laurent

2012-07-01

Infantile colics or excessive crying represent a source of stress for parents and a frequent reason for encounter in primary care. To assess the effectiveness of treatments of this syndrome from a systematic review. Medline, Cochrane and Embase databases. We used the following inclusion criteria: therapeutic assessment of infant colics or excessive crying, randomized controlled trials or meta-analyses, published in English or French language. Thirty-one randomized controlled trials and one meta-analysis have been included. Allopathic drugs have not proved effectiveness (simethicone, lactase) and some of them can cause potentially serious adverse reactions (dicyclomine). Protein hydrolysate or soy formulas seem to be effective, but soy milk can induce allergies. Sucrose solutions provide some benefit in studies with low level of evidence. Effectiveness is likely for a probiotics (Lactobacillus reuteri) and for herbal mixtures containing fennel extracts. Evidence is lacking for manual (osteopathy, acupuncture) and behavioural therapies (decreased stimulations, reassurance of parents). The definition of infantile colics and the methods used for crying measurement changed across trials. The included trials were of variable quality, especially with no double-blind procedure in 17 trials. The most validated treatments for infantile colics are the substitution of cows' milk by a hydrolysed formula, the use of L. reuteri and of fennel extracts. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

Exploring Hypotheses and Rationale for Causes of Infantile Colic

PubMed Central

Camilleri, Michael; Park, Seon-Young; Scarpato, Elena; Staiano, Annamaria

2016-01-01

Background Infantile colic is a frequent problem in neonates and infants. This review addresses current management including the results for nutrient modifications, soy-based formulas, and prebiotics, probiotics and synbiotics. Purpose Given the evidence that there is still an unmet clinical need, as current treatments are incompletely efficacious, we have examined the evidence around three hypothetical mechanisms that could potentially be involved in etiopathogenesis of infantile colic: immaturity of bile acid mechanisms that alter intraluminal and absorptive mechanisms, immaturity in motility and alterations in the microbiome. Understanding these potential mechanisms may lead to the introduction of diagnostic procedures that should enhance the selection or individualization of therapy for infantile colic. PMID:27647578

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

ERIC Educational Resources Information Center

Skager, Rodney

2009-01-01

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

Outdoor environment, ozone, radionuclide-associated aerosols and incidences of infantile eczema in Minsk, Belarus.

PubMed

Belugina, I N; Yagovdik, N Z; Belugina, O S; Belugin, S N

2018-05-06

The early occurrence of atopic dermatitis in infants may be influenced by urban air pollution. The aim of this study was to determine the relationship between incidences of infantile eczema in children under 2 years of age and urban outdoor environmental factors. A 11-year population-based study was conducted in retrospective design. The age/gender-adjusted incidence rates of infantile eczema were determined using the data of outpatient visits. We analysed 1965 cases with atopic dermatitis including infantile eczema in relation to the annual means of outdoor monitoring data from 2005 through 2015 in Minsk. Logistic regression and principal component analysis were performed to determine association between the annual means of air pollutants, meteorological variables and incidences of infantile eczema. Higher mean annual carbon monoxide, ammonia, formaldehyde, lead, particulate matter and ground-level ozone were associated with high incidence rates of infantile eczema both in boys and girls. Higher nitrogen dioxide was associated with high incidence rates of infantile eczema in girls 1-2 years of age and boys 0-2 years of age. There were identified by principal component analysis five combinations of pollutants and meteorological factors. High incidence rates of infantile eczema were associated with the combinations contained higher levels of air pollutants and ultraviolet index, or lower β-activity of the radionuclide-associated aerosols. The higher phenol and formaldehyde levels the higher incidence rates of infantile eczema were observed among boys 0-1 years of age and girls 1-2 years of age. The higher total column ozone with lower lead level was associated with low incidence rates of infantile eczema among boys and girls 1-2 years of age. Urban outdoor air pollutants and their combination with meteorological conditions may impact onset of infantile eczema in both genders. © 2018 European Academy of Dermatology and Venereology.

The hazards of honey: infantile botulism

PubMed Central

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

2010-01-01

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

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

PubMed

Yilmaz, L; Dangoisse, C; Semaille, P

2013-01-01

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

Prospective study of the frequency of hepatic hemangiomas in infants with multiple cutaneous infantile hemangiomas.

PubMed

Horii, Kimberly A; Drolet, Beth A; Frieden, Ilona J; Baselga, Eulalia; Chamlin, Sarah L; Haggstrom, Anita N; Holland, Kristen E; Mancini, Anthony J; McCuaig, Catherine C; Metry, Denise W; Morel, Kimberly D; Newell, Brandon D; Nopper, Amy J; Powell, Julie; Garzon, Maria C

2011-01-01

Multiple cutaneous infantile hemangiomas have been associated with hepatic hemangiomas. Screening of infants with five or more cutaneous infantile hemangiomas with abdominal ultrasound is often recommended. The aim of this study was to determine the frequency with which hepatic hemangiomas occur in infants with five or more cutaneous infantile hemangiomas compared to those with one to four cutaneous infantile hemangiomas and to characterize the clinical features of these hepatic hemangiomas. A multicenter prospective study of children with cutaneous infantile hemangiomas was conducted at pediatric dermatology clinics at Hemangioma Investigator Groups sites in the United States, Canada, and Spain between October 2005 and December 2008. Data were collected, and abdominal ultrasonography was performed on infants younger than 6 months old with five or more cutaneous infantile hemangiomas and those with one to four cutaneous infantile hemangiomas. Twenty-four (16%) of the 151 infants with five or more cutaneous infantile hemangiomas had hepatic hemangiomas identified on abdominal ultrasound, versus none of the infants with fewer than five (p = 0.003). Two of the 24 infants with hepatic hemangiomas received treatment specifically for their hepatic hemangiomas. Infants with five or more cutaneous infantile hemangiomas have a statistically significantly greater frequency of hepatic hemangiomas than those with fewer than 5. These findings support the recommendation of five or more cutaneous infantile hemangiomas as a threshold for screening infants younger than 6 months old for hepatic hemangiomas but also demonstrate that the large majority of these infants with hepatic hemangiomas do not require treatment. © 2011 Wiley Periodicals, Inc.

Endemic characteristics of infantile visceral leishmaniasis in the People's Republic of China.

PubMed

Fu, Qing; Li, Shi-Zhu; Wu, Wei-Ping; Hou, Yan-Yan; Zhang, Song; Feng, Yu; Zhang, Li-Ping; Tang, Lin-Hua

2013-05-17

Visceral leishmaniasis (VL) was once a severe parasitic disease in China. Thanks to the great efforts of integrated control, VL was eliminated in most epidemic areas, except for certain western provinces (autonomous region) at the end of 1950s. From then on, VL gained less attention and has seemed to spread, especially in the last 15 years. Infants are the most important population threatened by VL. However, there have been few studies on the endemic characteristics of infantile VL in China. Infantile VL cases were collected from the online National Infectious Diseases Reporting System (NIDRS). Statistical description and inference was used to reveal the endemic characteristics in gender, age group, time and regionalism. Spatial analysis was carried out to explore the high risk area for infantile VL in China. A total of 1093 infantile VL cases were reported from 2006 to 2012. There was no statistically significant difference in gender over time. The minimum, maximum and mean age of these cases was 1.1, 35.9 and 13.8 months, respectively. Among them 86.92% were under 2 years of age, and there was a statistically significant difference among age groups over time. An incidence peak appeared in 2008-2009, most cases were distributed in the months September to December, and there was a tail-raising effect in the coming two months of the next year. More than 98% of cases were reported in Xinjiang Uygur Autonomous Region, Gansu Province and Sichuan Province, accounting for 61.02%, 32.75% and 4.57%, respectively. A total of 56 counties reported infantile VL cases, with the cumulative incidence ranging from 0.02 to 24.57%. There were two main zones of high endemicity for infantile VL in China. The monthly incidence clearly coincides with the number of towns where infantile VL cases were reported. Three fatalities were reported during the study period, the case fatality rate was 2.75‰. The endemic situation of infantile VL is serious, and there are several active foci of

The role of melatonin and cortisol circadian rhythms in the pathogenesis of infantile colic.

PubMed

İnce, Tolga; Akman, Hakkı; Çimrin, Dilek; Aydın, Adem

2018-03-05

Despite the high prevalence of infantile colic, the pathogenesis remains incompletely understood. Cortisol and melatonin hormones affect gastrointestinal system development in several ways, and interestingly, both cortisol and melatonin's circadian rhythms begin around the 3rd month in which infantile colic symptoms start to decrease. We hypothesized that infantile colic might associate with desynchronization of normal circadian rhythms of these hormones. In this study, we aimed to investigate the role of melatonin and cortisol in the pathogenesis of infantile colic. Patients who were diagnosed as infantile colic according to Wessel's "rule of three" were enrolled in the colic group. We measured the saliva melatonin and cortisol levels of colic group and control group infants. In both groups, the saliva samples were taken in mornings and at evenings, at the time of diagnosis and 6th month. Fifty-five infants finished the study. Melatonin circadian rhythm developed earlier in the control group than the infantile colic group in our study. We found no significant difference between the daily mean cortisol levels. However, infants with colic had flatter daily cortisol slope than controls which pointed out the probability that they had a less clearly defined cortisol rhythm than infants without colic. We found an association between melatonin levels and infantile colic. However, more research is needed to fully understand the role of hypothalamic-pituitary-adrenal axis and hormone's role on infantile colic physiopathology.

Neural mechanisms of oculomotor abnormalities in the infantile strabismus syndrome.

PubMed

Walton, Mark M G; Pallus, Adam; Fleuriet, Jérome; Mustari, Michael J; Tarczy-Hornoch, Kristina

2017-07-01

Infantile strabismus is characterized by numerous visual and oculomotor abnormalities. Recently nonhuman primate models of infantile strabismus have been established, with characteristics that closely match those observed in human patients. This has made it possible to study the neural basis for visual and oculomotor symptoms in infantile strabismus. In this review, we consider the available evidence for neural abnormalities in structures related to oculomotor pathways ranging from visual cortex to oculomotor nuclei. These studies provide compelling evidence that a disturbance of binocular vision during a sensitive period early in life, whatever the cause, results in a cascade of abnormalities through numerous brain areas involved in visual functions and eye movements. Copyright © 2017 the American Physiological Society.

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

PubMed

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

2011-07-01

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 κ 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.

Early Infantile Autism and Autistic Psychopathy

ERIC Educational Resources Information Center

Van Krevelen, D. Arn

1971-01-01

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

Infantile Amnesia: A Critical Period of Learning to Learn and Remember

PubMed Central

Travaglia, Alessio

2017-01-01

Infantile amnesia, the inability of adults to recollect early episodic memories, is associated with the rapid forgetting that occurs in childhood. It has been suggested that infantile amnesia is due to the underdevelopment of the infant brain, which would preclude memory consolidation, or to deficits in memory retrieval. Although early memories are inaccessible to adults, early-life events, such as neglect or aversive experiences, can greatly impact adult behavior and may predispose individuals to various psychopathologies. It remains unclear how a brain that rapidly forgets, or is not yet able to form long-term memories, can exert such a long-lasting and important influence. Here, with a particular focus on the hippocampal memory system, we review the literature and discuss new evidence obtained in rats that illuminates the paradox of infantile amnesia. We propose that infantile amnesia reflects a developmental critical period during which the learning system is learning how to learn and remember. PMID:28615475

Endemic characteristics of infantile visceral leishmaniasis in the People’s Republic of China

PubMed Central

2013-01-01

Background Visceral leishmaniasis (VL) was once a severe parasitic disease in China. Thanks to the great efforts of integrated control, VL was eliminated in most epidemic areas, except for certain western provinces (autonomous region) at the end of 1950s. From then on, VL gained less attention and has seemed to spread, especially in the last 15 years. Infants are the most important population threatened by VL. However, there have been few studies on the endemic characteristics of infantile VL in China. Methods Infantile VL cases were collected from the online National Infectious Diseases Reporting System (NIDRS). Statistical description and inference was used to reveal the endemic characteristics in gender, age group, time and regionalism. Spatial analysis was carried out to explore the high risk area for infantile VL in China. Results A total of 1093 infantile VL cases were reported from 2006 to 2012. There was no statistically significant difference in gender over time. The minimum, maximum and mean age of these cases was 1.1, 35.9 and 13.8 months, respectively. Among them 86.92% were under 2 years of age, and there was a statistically significant difference among age groups over time. An incidence peak appeared in 2008-2009, most cases were distributed in the months September to December, and there was a tail-raising effect in the coming two months of the next year. More than 98% of cases were reported in Xinjiang Uygur Autonomous Region, Gansu Province and Sichuan Province, accounting for 61.02%, 32.75% and 4.57%, respectively. A total of 56 counties reported infantile VL cases, with the cumulative incidence ranging from 0.02 to 24.57%. There were two main zones of high endemicity for infantile VL in China. The monthly incidence clearly coincides with the number of towns where infantile VL cases were reported. Three fatalities were reported during the study period, the case fatality rate was 2.75‰. Conclusions The endemic situation of infantile VL is

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

PubMed Central

Alves, João Guilherme Bezerra; de Brito, Rita de Cássia Coelho Moraes; Cavalcanti, Telma Samila

2012-01-01

Background. Infantile colic is a distressing and common condition for which there is no proven standard treatment. Objective. To compare the efficacy of Mentha piperita with simethicone in treatment for infantile colic. Methods. A double-blind crossover study was performed with 30 infants attending IMIP, Recife, Brazil. They were randomized to use Mentha piperita or simethicone in the treatment of infantile colic during 7 days with each drug. Primary outcomes were mother_s opinion about responses to the treatment, number of daily episodes of colic, and time spent crying, measured by a chronometer. Mann-Whitney and chi-square tests were used to compare the results. This study was previously approved by the Ethical Committee in Research at IMIP. Results. At baseline daily episodes of infantile colic was 3.9 (±1.1) and the mean crying time per day was 192 minutes (±51.6). At the end of the study daily episodes of colic fell to 1.6 (±0.6) and the crying duration decreased to 111 (±28) minutes. All mothers reported decrease of frequency and duration of the episodes of infantile colic and there were no differences between responses to Mentha piperita and simethicone. Conclusions. These findings suggest that Mentha piperita may be used to help control infantile colic. However, these results must be repeated by others studies. PMID:22844342

Recurrent Somatic PDGFRB Mutations in Sporadic Infantile/Solitary Adult Myofibromas But Not in Angioleiomyomas and Myopericytomas.

PubMed

Agaimy, Abbas; Bieg, Matthias; Michal, Michael; Geddert, Helene; Märkl, Bruno; Seitz, Jan; Moskalev, Evgeny A; Schlesner, Matthias; Metzler, Markus; Hartmann, Arndt; Wiemann, Stefan; Michal, Michal; Mentzel, Thomas; Haller, Florian

2017-02-01

Infantile myofibroma (MF) is an uncommon benign myofibroblastic tumor of infancy and childhood. Solitary adult MF shares similar features with infantile MF. The lesions occur in 3 clinicopathologic settings: solitary, multicentric, and generalized and can be either sporadic or familial. Traditionally, infantile MF has been included in the spectrum of infantile hemangiopericytoma. The recent World Health Organization classification listed MF, angioleiomyoma, and myopericytoma under the general heading of perivascular tumors in the sense of a morphologic spectrum of perivascular myoid cell neoplasms. Although activating germline PDGFRB mutations have recently been linked to familial infantile MF, the molecular pathogenesis of sporadic infantile and adult solitary MF remained unclear. In this study, we analyzed 25 solitary MFs without evidence of familial disease (9 infantile and 16 adult MFs) to address the question whether somatic PDGFRB mutations might be responsible for the sporadic form of the disease. Given the presumed histogenetic link of MF to myopericytoma and angioleiomyoma, we additionally analyzed a control group of 6 myopericytomas and 9 angioleiomyomas for PDGFRB mutations. We detected PDGFRB mutations in 6/8 (75%) analyzable infantile and in 11/16 (69%) adult MFs but in none of the angioleiomyomas or myopericytomas. In 2 infantile MFs, additional sequencing of the germline confirmed the somatic nature of PDGFRB mutations. To our knowledge, this is the first study reporting apparently somatic recurrent PDGFRB mutations as molecular driver events in the majority of sporadic infantile and adult solitary MFs. Our results suggest molecular distinctness of MF as compared with angioleiomyoma/myopericytoma. Investigation of more cases including those with atypical and worrisome features, as well as other mimickers in the heterogenous morphologic spectrum of MF, is mandatory for validating the potential diagnostic value of PDGFRB mutation testing as a possible

Infantile Hepatic Hemangioendothelioma: An Uncommon Cause of Persistent Pulmonary Hypertension in a Newborn Infant.

PubMed

Chatmethakul, Trassanee; Bhat, Ramachandra; Alkaabi, Maryam; Siddiqui, Abdul; Peevy, Keith; Zayek, Michael

2016-07-01

Multifocal and diffuse infantile hepatic hemangioendotheliomas commonly present with signs of high-output congestive heart failure. In addition, prolonged persistent pulmonary overcirculation eventually leads to the development of pulmonary hypertension at a later age. We report a 2-day old, full-term infant with multifocal, large infantile hepatic hemangioendothelioma, who presented with an early onset of pulmonary hypertension, managed successfully with supportive care and systemic therapy directed toward the involution of infantile hepatic hemangioendothelioma.

Efficacy of Lactobacillus reuteri DSM 17938 for infantile colic

PubMed Central

Gutiérrez-Castrellón, Pedro; Indrio, Flavia; Bolio-Galvis, Alexis; Jiménez-Gutiérrez, Carlos; Jimenez-Escobar, Irma; López-Velázquez, Gabriel

2017-01-01

Abstract Background: 5% to 40% of infants cry excessively, usually accompanied by fussiness and excessive of gas. There are no uniform criteria for treatment of infantile colic. Lactobacillus reuteri DSM 17938 has been used with promising results. The objective of this network-meta-analysis (NMA) is to compare the efficacy of L reuteri DSM 17938 with other interventions for infantile colic. Methods: RCTs, published between 1960 and 2015 for the treatment of infantile colic were included. Primary outcome was duration of crying after 21 to 28 days of treatment. Different databases were searched. Information was analyzed using control group as central axis. A random effect model was used. Hedges standard mean difference (SMD) and odds ratio (OR) were calculated. A SUCRA analysis was performed to evaluate superiority for each intervention. Results: 32 RCTs were analyzed, including 2242 patients. Studies with L reuteri DSM 17938 versus Ctrl., Diet versus Ctrl. and Acupuncture versus Ctrl. were the most influential studies in the NMA. L reuteri DSM 17938 [WMD −51.3 h (CI95% −72.2 to −30.5 h), P .0001] and dietetic approaches [WMD −37.4 h (CI95% −56.1 to −18.7 h), P .0001] were superior compared to the other treatments. Conclusions: L reuteri DSM 17938 and some dietetic approaches are better to other interventions for treatment of infantile colic. PMID:29390535

Neoadjuvant Chemotherapy for Facilitating Surgical Resection of Infantile Massive Intracranial Immature Teratoma.

PubMed

Kitahara, Takahiro; Tsuji, Yoshihito; Shirase, Tomoyuki; Yukawa, Hiroyuki; Takeichi, Yasuhiro; Yamazoe, Naohiro

2016-04-01

Immature teratoma (IMT) is the most frequent histological subtype of infantile intracranial teratoma, the most common congenital brain tumor. IMT contains incompletely differentiated components resembling fetal tissues. Infantile intracranial IMT has a dismal prognosis, because it is often inoperable due to its massive size and high vascularity. Neoadjuvant chemotherapy has been shown to be effective in decreasing tumor volume and vascularity to facilitate surgical resection in other types of infantile brain tumors. However, only one recent case report described the effectiveness of neoadjuvant chemotherapy for infantile intracranial IMT in the literature, even though it is common entity with a poor prognosis in infants. Here, we describe the case of a 2-month-old male infant with a very large intracranial IMT. Maximal surgical resection was first attempted but was unsuccessful because of severe intraoperative hemorrhage. Neoadjuvant carboplatin and etoposide (CARE) chemotherapy was then administered with the aim of shrinking and devascularizing the tumor. After neoadjuvant chemotherapy, tumor size did not decrease, but intraoperative blood loss significantly decreased and near-total resection was achieved by the second and third surgery. The patient underwent adjuvant CARE chemotherapy and has been alive for 3 years after surgery without tumor regrowth. Even when neoadjuvant chemotherapy does not decrease tumor volume of infantile intracranial IMT, surgical resection should be tried because chemotherapy can facilitate surgical resection and improve clinical outcome by reducing tumor vascularity.

Failure to thrive and cognitive development in toddlers with infantile anorexia.

PubMed

Chatoor, Irene; Surles, Jaclyn; Ganiban, Jody; Beker, Leila; Paez, Laura McWade; Kerzner, Benny

2004-05-01

The goal of this study was to examine the relative contributions of growth deficiency and psychosocial factors to cognitive development in toddlers with infantile anorexia. Eighty-eight toddlers, ranging in age from 12 to 33 months, were enrolled in this study. Toddlers were evaluated by 2 child psychiatrists and placed into 1 of 3 groups: infantile anorexia, picky eater, and healthy eater. All 3 groups were matched for age, race, gender, and socioeconomic status (SES). Toddlers underwent nutritional evaluations and cognitive assessments with the Bayley Scales of Infant Development. Toddlers and their mothers were also videotaped during feeding and play interactions, which later were rated independently by 2 observers. On average, toddlers with infantile anorexia performed within the normal range of cognitive development. However, the Mental Developmental Index (MDI) scores of the healthy eater group (MDI = 110) were significantly higher than those of the infantile anorexia (MDI = 99) and picky eater (MDI = 96) groups. Within the infantile anorexia group, correlations between MDI scores and the toddlers' percentage of ideal body weight approached statistical significance (r =.32). Across all groups, the toddlers' MDI scores were associated with the quality of mother-child interactions, SES level, and maternal education level. Collectively, these variables explained 22% of the variance in MDI scores. This study demonstrated that psychosocial factors, such as mother-toddler interactions, maternal education level, and SES level, are related to the cognitive development of toddlers with feeding problems and explain more unique variance in MDI scores than nutritional status.

Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses.

PubMed

Sima, Ni; Li, Rong; Huang, Wei; Xu, Miao; Beers, Jeanette; Zou, Jizhong; Titus, Steven; Ottinger, Elizabeth A; Marugan, Juan J; Xie, Xing; Zheng, Wei

2018-04-10

Infantile and late infantile neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases affecting the central nervous system (CNS). The infantile NCL (INCL) is caused by mutations in the PPT1 gene and late-infantile NCL (LINCL) is due to mutations in the TPP1 gene. Deficiency in PPT1 or TPP1 enzyme function results in lysosomal accumulation of pathological lipofuscin-like material in the patient cells. There is currently no small-molecular drug treatment for NCLs. We have generated induced pluripotent stem cells (iPSC) from three patient dermal fibroblast lines and further differentiated them into neural stem cells (NSCs). Using these new disease models, we evaluated the effect of δ-tocopherol (DT) and hydroxypropyl-β-cyclodextrin (HPBCD) with the enzyme replacement therapy as the control. Treatment with the relevant recombinant enzyme or DT significantly ameliorated the lipid accumulation and lysosomal enlargement in the disease cells. A combination therapy of δ-tocopherol and HPBCD further improved the effect compared to that of either drug used as a single therapy. The results demonstrate that these patient iPSC derived NCL NSCs are valid cell- based disease models with characteristic disease phenotypes that can be used for study of disease pathophysiology and drug development.

The controversial role of food allergy in infantile colic: evidence and clinical management.

PubMed

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

2015-03-19

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

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

PubMed

Madsen, Heather Bronwyn; Kim, Jee Hyun

2016-02-01

Given the profound influence that early life experiences can have upon psychosocial functioning later in life, it is intriguing that most adults fail to recall autobiographical events from their early childhood years. Infantile amnesia is the term used to describe this phenomenon of accelerated forgetting during infancy, and it is not unique to humans. Over the years, information garnered from animal studies has provided clues as to the neurobiological basis of infantile amnesia. The purpose of this review is to provide a neurobiological update on what we now know about infantile amnesia since the publication of Campbell and Spear's seminal review on the topic more than 40 years ago. We present evidence that infantile amnesia is unlikely to be explained by a unitary theory, with the protracted development of multiple brain regions and neurotransmitter systems important for learning and memory likely to be involved. The recent discovery that exposure to early life stress can alleviate infantile amnesia offers a potential explanation as to how early adversity can so profoundly affect mental health in adulthood, and understanding the neurobiological basis for this early transition may lead to the development of effective therapeutic interventions. Copyright © 2015 Elsevier B.V. All rights reserved.

Infantile Amnesia: Forgotten but Not Gone

ERIC Educational Resources Information Center

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

2014-01-01

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

Infantile botulism: a case report and review.

PubMed

Brown, Nicole; Desai, Sameer

2013-12-01

Infantile botulism is the result of ingestion of Clostridium botulinum spores, and is the most common form of infection with botulism in the United States. Ninety percent of cases occur in infants <6 months old. The infants typically present with vague symptoms such as hypotonia and poor feeding. This article reports an infant with confirmed infantile botulism that presented to the Emergency Department (ED) with complaints of decreased feeding and absence of bowel movements for >1 week. Review a case of infantile botulism, its diagnosis, and treatment. A 4-month-old healthy Caucasian male presented to the ED with a 6-day history of decreased feeding after referral from the pediatrician. He had not had a bowel movement for 9 days, and his parents were also concerned about increasing weakness, as he was no longer able to hold his head up on his own. In the ED, he was minimally interactive. His vital signs were within normal limits, and he had hypoactive bowel sounds and decreased tone throughout. He was admitted to the Children's Hospital and eventually transferred to the Pediatric Intensive Care Unit requiring intubation and mechanical ventilation. The botulism immunoglobulin was administered, and a diagnosis was confirmed with positive botulinum toxin in the stool samples. Full recovery was made by the infant. Awareness of the symptoms of botulism and a high degree of clinical suspicion is needed to make a prompt diagnosis. Copyright © 2013 Elsevier Inc. All rights reserved.

Genetics Home Reference: X-linked infantile nystagmus

MedlinePlus

... Free article on PubMed Central Thomas MG, Thomas S, Kumar A, Proudlock FA, Gottlob I. FRMD7-Related Infantile ... Roberts EO, Awan M, McLean R, Surendran M, Kumar AS, Farooq SJ, Degg C, Gale RP, Reinecke ...

A Formula for Early Infantile Autism.

ERIC Educational Resources Information Center

Roy, M. Aaron

Offered is an explanation for the development of early infantile autism as defined by L. Kanner which incorporates the behavior of the child, the behavior of the parent, and a critical time period of development. Writings of Kanner on the characteristics of autistic children, parental characteristics, and etiology are reviewed. The formula…

Utility of Shear Wave Elastography for Differentiating Biliary Atresia From Infantile Hepatitis Syndrome.

PubMed

Wang, Xiaoman; Qian, Linxue; Jia, Liqun; Bellah, Richard; Wang, Ning; Xin, Yue; Liu, Qinglin

2016-07-01

The purpose of this study was to investigate the potential utility of shear wave elastography (SWE) for diagnosis of biliary atresia and for differentiating biliary atresia from infantile hepatitis syndrome by measuring liver stiffness. Thirty-eight patients with biliary atresia and 17 patients with infantile hepatitis syndrome were included, along with 31 healthy control infants. The 3 groups underwent SWE. The hepatic tissue of each patient with biliary atresia had been surgically biopsied. Statistical analyses for mean values of the 3 groups were performed. Optimum cutoff values using SWE for differentiation between the biliary atresia and control groups were calculated by a receiver operating characteristic (ROC) analysis. The mean SWE values ± SD for the 3 groups were as follows: biliary atresia group, 20.46 ± 10.19 kPa; infantile hepatitis syndrome group, 6.29 ± 0.99 kPa; and control group, 6.41 ± 1.08 kPa. The mean SWE value for the biliary atresia group was higher than the values for the control and infantile hepatitis syndrome groups (P < .01). The mean SWE values between the control and infantile hepatitis syndrome groups were not statistically different. The ROC analysis showed a cutoff value of 8.68 kPa for differentiation between the biliary atresia and control groups. The area under the ROC curve was 0.997, with sensitivity of 97.4%, specificity of 100%, a positive predictive value of 100%, and a negative predictive value of 96.9%. Correlation analysis suggested a positive correlation between SWE values and age for patients with biliary atresia, with a Pearson correlation coefficient of 0.463 (P < .05). The significant increase in liver SWE values in neonates and infants with biliary atresia supports their application for differentiating biliary atresia from infantile hepatitis syndrome.

A practical approach for the use of oral isotretinoin for infantile acne.

PubMed

Barnes, Cheryl J; Eichenfield, Lawrence F; Lee, Jungho; Cunningham, Bari B

2005-01-01

Infantile acne is a rare occurrence. It is more common in boys and predominately occurs on the cheeks in infants between the ages of 1 and 16 months. Clinically, the lesions range from comedones to inflammatory papulopustules to cysts. Successful therapies include topical tretinoin, benzoyl peroxide and topical and oral erythromycin. For more serious cases, oral isotretinoin (Accutane) has been reported to successfully treat recalcitrant infantile cystic acne. We describe two additional patients with infantile cystic acne treated successfully with oral isotretinoin. The dose of isotretinoin used ranged from 0.2 mg/kg/day to 1.5 mg/kg/day. The treatment duration varied from 5 to 14 months. Careful monthly monitoring is recommended because of the many side effects reported with isotretinoin. Practical tips for the administration of oral isotretinoin in infants are reviewed.

Looking for new treatments of Infantile Colic

PubMed Central

2014-01-01

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

3D photography is a reliable method of measuring infantile haemangioma volume over time.

PubMed

Robertson, Sarah A; Kimble, Roy M; Storey, Kristen J; Gee Kee, Emma L; Stockton, Kellie A

2016-09-01

Infantile haemangiomas are common lesions of infancy. With the development of novel treatments utilised to accelerate their regression, there is a need for a method of assessing these lesions over time. Volume is an ideal assessment method because of its quantifiable nature. This study investigated whether 3D photography is a valid tool for measuring the volume of infantile haemangiomas over time. Thirteen children with infantile haemangiomas presenting to the Vascular Anomalies Clinic, Royal Children's Hospital/Lady Cilento Children's Hospital treated with propranolol were included in the study. Lesion volume was assessed using 3D photography at presentation, one month and three months follow up. Intrarater reliability was determined by retracing all images several months after the initial mapping. Interrater reliability of the 3D camera software was determined by two investigators, blinded to each other's results, independently assessing infantile haemangioma volume. Lesion volume decreased significantly between presentation and three-month follow-up (p<0.001). Volume intra- and interrater reliability were excellent with ICC 0.991 (95% CI 0.982, 0.995) and 0.978 (95% CI 0.955, 0.989), respectively. This study demonstrates images taken with the 3D LifeViz™ camera and lesion volume calculated with Dermapix® software is a reliable method for assessing infantile haemangioma volume over time. Copyright © 2016 Elsevier Inc. All rights reserved.

Infantile autism in children of immigrant parents. A population-based study from Göteborg, Sweden.

PubMed

Gillberg, C; Steffenburg, S; Börjesson, B; Andersson, L

1987-06-01

A population-based study of infantile autism from western Sweden has been completed. Urban children with autism more often than age-matched children in the general population had immigrant parents from 'exotic' countries. No such trend was seen in rural children with infantile autism.

Infantile fibrosarcoma of ethmoid sinus, misdiagnosed as an adenoid in a 5-year-old child

PubMed Central

Geramizadeh, Bita; Khademi, Bijan; Karimi, Mehran; Shekarkhar, Golsa

2015-01-01

Infantile fibrosarcoma of head and neck is rare and the presence of this tumor in ethmoid sinus is even more uncommon. To the best of our knowledge, <5 cases have been reported in the last 20 years in the English literature, so far, only one of which has been infantile type in a 15 months old girl. In this case report, we will explain our experience with a rare case of infantile fibrosarcoma originating from ethmoid sinus in a 5-year-old boy who presented with dyspnea and epistaxis. After biopsy, it was diagnosed as fibrosarcoma of sinus origin. PMID:26604519

Natural History of Infantile GM2 Gangliosidosis

PubMed Central

Bley, Annette E.; Giannikopoulos, Ourania A.; Hayden, Doug; Kubilus, Kim; Tifft, Cynthia J.

2011-01-01

OBJECTIVE: GM2 gangliosidoses are caused by an inherited deficiency of lysosomal β-hexosaminidase and result in ganglioside accumulation in the brain. Onset during infancy leads to rapid neurodegeneration and death before 4 years of age. We set out to quantify the rate of functional decline in infantile GM2 gangliosidosis on the basis of patient surveys and a comprehensive review of existing literature. METHODS: Patients with infantile GM2 gangliosidosis (N = 237) were surveyed via questionnaire by the National Tay Sachs & Allied Diseases Association (NTSAD). These data were supplemented by survival data from the NTSAD database and a literature survey. Detailed retrospective surveys from 97 patients were available. Five patients who had received hematopoietic stem cell transplantation were evaluated separately. The mortality rate of the remaining 92 patients was comparable to that of the 103 patients from the NTSAD database and 121 patients reported in the literature. RESULTS: Common symptoms at onset were developmental arrest (83%), startling (65%), and hypotonia (60%). All 55 patients who had learned to sit without support lost that ability within 1 year. Individual functional measures correlated with each other but not with survival. Gastric tube placement was associated with prolonged survival. Tay Sachs and Sandhoff variants did not differ. Hematopoietic stem cell transplantation was not associated with prolonged survival. CONCLUSIONS: We studied the timing of regression in 97 cases of infantile GM2 gangliosidosis and conclude that clinical disease progression does not correlate with survival, likely because of the impact of improved supportive care over time. However, functional measures are quantifiable and can inform power calculations and study design of future interventions. PMID:22025593

Probiotics for infantile colic: a systematic review.

PubMed

Anabrees, Jasim; Indrio, Flavia; Paes, Bosco; AlFaleh, Khalid

2013-11-15

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

Probiotics for the Treatment of Infantile Colic: A Systematic Review.

PubMed

Schreck Bird, Anna; Gregory, Philip J; Jalloh, Mohamed A; Risoldi Cochrane, Zara; Hein, Darren J

2017-06-01

To evaluate whether clinical data support the safety and efficacy of probiotics for the management of infantile colic. Probiotics have been suggested as a potential strategy for infantile colic, and the specific species that have been studied in healthy infants are considered to be safe. A systematic review was conducted to identify randomized controlled trials (RCTs) evaluating the use of probiotic supplementation in infants with colic. RCTs with a primary end point assessing crying or fussing time were selected. A meta-analysis comparing "responders" to "nonresponders" in infants receiving probiotic versus control was conducted. The quality of trials selected was assessed. Five RCTs assessing 2 different strains of the probiotic Lactobacillus reuteri in mostly breastfed infants were identified. Analysis of response rates showed that infants receiving probiotics had a 2.3-fold greater chance of having a 50% or greater decrease in crying/fussing time compared to controls ( P = .01). Probiotic supplementation was not associated with any adverse events. Supplementation with the probiotic L. reuteri in breastfed infants appears to be safe and effective for the management of infantile colic. Further research is needed to determine the role of probiotics in infants who are formula-fed.

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

ERIC Educational Resources Information Center

Foley, Megan

2012-01-01

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

Infantile Hemangiomas and Retinopathy of Prematurity: Clues to the Regulation of Vasculogenesis

PubMed Central

Hyland, Rachael M.; Komlósi, Katalin; Alleman, Brandon W.; Tolnai, Marina; Wood, Laura M.; Bell, Edward F.; Ertl, Tibor

2013-01-01

Retinopathy of prematurity (ROP) and infantile hemangiomas are vascular disorders that may share common mechanisms. This study examined a potential clinical association between these disorders in populations of preterm infants at two hospitals in the U.S. and Hungary. Clinically collected data from infants with gestational ages less than 32 weeks born between May 1, 2007 and December 31, 2010 seen in the University of Iowa Children’s Hospital or the Department of Obstetrics and Gynecology, University of Pécs, were abstracted from electronic medical records and entered into a study database. Demographic and clinical variables were examined as potential covariates to the disorders of interest. Data were initially analyzed by center and then combined through meta-analysis. Six hundred eighty-four subjects were studied, 236 from Pécs and 448 from Iowa. There were no significant demographic differences between populations. Univariate analysis on each study population yielded covariates to ROP in each population, including infantile hemangioma, which were entered into a logistic regression model. These models were combined through random effects meta-analysis and demonstrated a significant relationship between infantile hemangioma and ROP (odds ratio=1.84, 95% confidence interval 1.08–3.12). Conclusion Infantile hemangioma and ROP co-occur in premature infant populations. Further studies are needed to investigate the pathogenesis of both disorders. PMID:23408311

Infantile aperiodic alternating nystagmus.

PubMed

Hertle, Richard W; Reznick, Leah; Yang, Dongsheng

2009-01-01

This study identifies the clinical and ocular motility characteristics of the periodic and aperiodic forms of infantile alternating nystagmus (IAPAN) and establishes the range of electrophysiological and clinical characteristics while providing clues to its presence and pathophysiology. Seventy-eight patients with ocular oscillations consistent with IAPAN were reported. Outcome variables were: age, follow-up in months, vision, strabismus, other eye and systemic abnormalities, head position, periodicity, cycle and null period duration, foveation time, waveforms, and cycle symmetry. Age range was 1 to 67 years, 50% had pure periodic and aperiodic forms, 46% had albinism, 26% had binocular acuity of 20/40 or greater, 72% had strabismus, 35% had amblyopia, 31% had other eye disease, 14% had systemic disease, 87% had an anomalous head posture, and 65% had binocular directional asymmetry. The periodic cycle averaged 224 seconds and the aperiodic cycle ranged from 2 to more than 300 seconds. One in three patients with strabismus and nystagmus periodicity had a static head posture. Fifteen percent of the infantile nystagmus syndrome population had either the periodic or aperiodic form. A changing null period is often clinically missed because of long or irregular cycles, decreased acuity, associated strabismus, and either a nonexistent or inconsistent head posture. The changing null period is easier to recognize using eye movement recordings or if the non-preferred eye is occluded and the preferred eye is examined with the head straight and gaze in primary position for at least 5 to 7 minutes. The recognition of this variant has profound treatment implications.

Part One: Infantile Spasms--The New Consensus

ERIC Educational Resources Information Center

Pellock, John

2011-01-01

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

Effectiveness of treatments for infantile colic: systematic review

PubMed Central

Lucassen, P L B J; Assendelft, W J J; Gubbels, J W; van Eijk, J T M; van Geldrop, W J; Neven, A Knuistingh

1998-01-01

Objective: To evaluate the effectiveness of diets, drug treatment, and behavioural interventions on infantile colic in trials with crying or the presence of colic as the primary outcome measure. Data sources: Controlled clinical trials identified by a highly sensitive search strategy in Medline (1966-96), Embase (1986-95), and the Cochrane Controlled Trials Register, in combination with reference checking for further relevant publications. Keywords were crying and colic. Study selection: Two independent assessors selected controlled trials with interventions lasting at least 3 days that included infants younger than 6 months who cried excessively. Data synthesis: Methodological quality was assessed by two assessors independently with a quality assessment scale (range 0-5). Effect sizes were calculated as percentage success. Effect sizes of trials using identical interventions were pooled using a random effects model. Results: 27 controlled trials were identified. Elimination of cows’ milk protein was effective when substituted by hypoallergenic formula milks (effect size 0.22 (95% confidence interval 0.09 to 0.34)). The effectiveness of substitution by soy formula milks was unclear when only trials of good methodological quality were considered. The benefit of eliminating cows’ milk protein was not restricted to highly selected populations. Dicyclomine was effective (effect size 0.46 ( 0.33 to 0.60)), but serious side effects have been reported. The advice to reduce stimulation was beneficial (effect size 0.48 (0.23 to 0.74)), whereas the advice to increase carrying and holding seemed not to reduce crying. No benefit was shown for simethicone. Uncertainty remained about the effectiveness of low lactose formula milks. Conclusions: Infantile colic should preferably be treated by advising carers to reduce stimulation and with a one week trial of a hypoallergenic formula milk. Key messages Infantile colic is common during the first months of life, but its cause is

DOE Office of Scientific and Technical Information (OSTI.GOV)

Falk, H.; Herbert, J.T.; Edmonds, L.

Four cases of childhood hepatic angiosarcoma (HAS), representing the malignant form of infantile hemangioendothelioma, are described. The morphologic appearance of childhood HAS differs from the adult form in the following features: the associated presence of benign infantile hemagioendothelioma; the presence of dysontogenetic features; and an altered appearance of the angiosarcoma itself. It is postulated for these cases that the benigh infantile hemangioendothelioma progressed to the malignant angiosarcoma. One of the four cases had exposure to elevated levels of arsenic in the environment that may have contributed to this progression. This latter case adds to published reports associating arsenic exposure withmore » increased risk for hepatic angiosarcoma.« less

Infantile colic: a systematic review of medical and conventional therapies.

PubMed

Hall, Belinda; Chesters, Janice; Robinson, Anske

2012-02-01

Infantile colic is a prevalent and distressing condition for which there is no proven standard therapy. The aim of this paper is to review medical and conventional treatments for infantile colic. A systematic literature review was undertaken of studies on medical and conventional interventions for infantile colic from 1980 to March 2009. The results and methodological rigour of included studies were analysed using the CONSORT (Consolidated Standards Of Reporting Trials) 2001 statement checklist and Centre for Evidence Based Medicine critical appraisal tools. Nineteen studies and two literature reviews were included for review. Pharmacological studies on Simethicone gave conflicting results and with Dicyclomine hydrochloride and Cimetropium bromide results were favourable but side effects were noted along with issues in study methodology. Some nutritional studies reported favourable results for the use of hydrolysed formulas in bottle-fed infants or low-allergen maternal diets in breastfed infants but not for the use of additional fibre or lactase. There were several issues in regards to methodological rigour. Behavioural studies on the use of increased stimulation gave unfavourable results, whereas results from the use of decreased stimulation and contingent music were favourable. These studies demonstrated poor methodological rigour. There is some scientific evidence to support the use of a casein hydrolysate formula in formula-fed infants or a low-allergen maternal diet in breastfed infants with infantile colic. However, there is little scientific evidence to support the use of Simethicone, Dicyclomine hydrochloride, Cimetropium bromide, lactase, additional fibre or behavioural interventions. Further research of good methodological quality on low-allergenic formulas and maternal diets is indicated. © 2011 The Authors. Journal of Paediatrics and Child Health © 2011 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

[Infantile haemangioma: clinical and demographic characteristics, experiences in the treatment].

PubMed

Csoma, Zsanett Renáta; Dalmády, Szandra; Ábrahám, Rita; Rózsa, Tamás; Rácz, Katalin; Kemény, Lajos

2017-10-01

Infantile haemangiomas are the most common vascular tumours of infancy. The vast majority of the lesions do not require dermatological treatment due to their unique clinical course and the high rate of spontaneous regression. Approximately 10-15% of the tumours result in severe complications and sequale, requiring special management and close follow-up. The aim of the present study was to assess the data of the patients treated with infantile haemangiomas, and to summarize the results of the therapy during 4.5 years of study period, in the Paediatric Dermatology Outpatient Clinic of the Department of Dermatology and Allergology, at the University of Szeged. Demographic data of the infants (gender, gestational age and weight, perinatal history of the infant and medical history of mothers), exact date of the visits at Paediatric Dermatology Outpatient Clinic and tumour characteristics (number, subtype, anatomical localisation and complications) were analysed in details. Treatment modalities and therapy intervals, outcomes and the adverse events of the therapies were also discussed in the survey. During the study period, 96 infants with 163 infantile haemangiomas were observed. 54 patients required regular observations, while 42 infants required local or systemic beta-blocker therapy. All of the tumours treated with local or systemic therapy showed marked clinical regression; adverse effects were observed in only 6 cases. The gestational age and gestational weight of infants requiring beta-blocker therapy was significantly lower as compared to children needed only observation. Systemic propranolol is currently the first-line treatment modality for complicated infantile haemangiomas. Our results confirm the significant therapeutic efficacy of propranolol. Early introduction of the treatment is relevant; unfortunately a great proportion of patients are referred late to Paediatric Dermatology Centres. Orv Hetil. 2017; 158(39): 1535-1544.

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

PubMed

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

2012-10-01

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. Copyright © 2012 Elsevier Inc. All rights reserved.

Probiotics for infantile colic: a systematic review

PubMed Central

2013-01-01

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

Symmetrical infantile thalamic degeneration in two sibs

PubMed Central

Abuelo, Dianne N; Barsel-Bowers, Gail; Tutschka, Barbara G; Ambler, Mary; Singer, Don B

1981-01-01

This is the first observation of two cases of symmetrical infantile thalamic degeneration with cell mineralisation in a family. Although it cannot be established at present, autosomal recessive inheritance of a metabolic error causing or predisposing to damage to specific areas of the central nervous system is a possible aetiology for this condition. Images PMID:7334503

Preventive Effect of Residential Green Space on Infantile Atopic Dermatitis Associated with Prenatal Air Pollution Exposure.

PubMed

Lee, Ji-Young; Lamichhane, Dirga Kumar; Lee, Myeongjee; Ye, Shinhee; Kwon, Jung-Hyun; Park, Myung-Sook; Kim, Hwan-Cheol; Leem, Jong-Han; Hong, Yun-Chul; Kim, Yangho; Ha, Mina; Ha, Eunhee

2018-01-09

Few birth cohort studies have examined the role of traffic-related air pollution (TRAP) in the development of infantile atopic dermatitis (AD), but none have investigated the role of preventive factors such as green spaces. The aim of this study was to investigate whether exposure to nitrogen dioxide (NO₂) and particulate matter with an aerodynamic diameter of <10 μm (PM 10 ) during pregnancy is associated with increased risk of development of AD in 6-month-old children and also to examine how this association changes with residential green space. This study used prospective data from 659 participants of the Mothers and Children's Environmental Health study. Subjects were geocoded to their residential addresses and matched with air pollution data modeled using land-use regression. Information on infantile AD was obtained by using a questionnaire administered to the parents or guardians of the children. The association between infantile AD and exposure to NO₂ and PM 10 was determined using logistic regression models. We assessed the effects of residential green spaces using stratified analyses and by entering product terms into the logistic regression models. The risk of infantile AD significantly increased with an increase in air pollution exposure during the first trimester of pregnancy. The adjusted odds ratio (OR) and 95% confidence interval (CI) were 1.219 (1.023-1.452) per 10 μg/m³ increase in PM 10 and 1.353 (1.027-1.782) per 10 ppb increase in NO₂. An increase in the green space within 200 m of residence was associated with a decreased risk of AD (OR = 0.996, 95% CI: 0.993-0.999). The stratified analysis of residential green space revealed stronger associations between infantile AD and PM 10 and NO₂ exposure during the first trimester in the areas in the lower tertiles of green space. This study indicated that exposure to TRAP during the first trimester of pregnancy is associated with infantile AD. Less residential green space may intensify the

Gratification disorder ("infantile masturbation"): a review.

PubMed

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

2004-03-01

Little has been published on gratification disorder ("infantile masturbation") in early childhood. To expand on the profile of patients diagnosed with this condition. Retrospective case note review; Fraser of Allander Neurosciences Unit paediatric neurology outpatient department 1972-2002. 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. 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.

Gratification disorder ("infantile masturbation"): a review

PubMed Central

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

2004-01-01

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. PMID:14977696

Infantile botulism: pitfalls in electrodiagnosis.

PubMed

Sheth, R D; Lotz, B P; Hecox, K E; Waclawik, A J

1999-03-01

Botulism in infants, unless recognized early, is associated with high mortality and morbidity. The diagnosis is suspected when infants present with sudden onset of weakness, respiratory failure, and constipation and is confirmed by demonstration of botulinum toxin in stool several weeks later. Electrodiagnosis allows quick and reliable confirmation of botulism. Low-amplitude compound muscle action potentials, tetanic or post-tetanic facilitation, and the absence of post-tetanic exhaustion support the diagnosis. Two infants with confirmed botulism did not exhibit the characteristic electrodiagnostic features, demonstrating the pitfalls in electrodiagnosis of infantile botulism.

Cognitive Development in Infantile-Onset Pompe Disease Under Very Early Enzyme Replacement Therapy.

PubMed

Lai, Chih-Jou; Hsu, Ting-Rong; Yang, Chia-Feng; Chen, Shyi-Jou; Chuang, Ya-Chin; Niu, Dau-Ming

2016-12-01

Most patients with infantile-onset Pompe disease die in early infancy before beginning enzyme replacement therapy, which has made it difficult to evaluate the impact of Pompe disease on cognitive development. Patients with infantile-onset Pompe disease can survive with enzyme replacement therapy, and physicians can evaluate cognitive development in these patients. We established an effective newborn screening program with quick clinical diagnostic criteria. Cognitive and motor development were evaluated using the Bayley Scales of Infant and Toddler Development-Third Edition at 6, 12, and 24 months of age. The patients who were treated very early demonstrate normal cognitive development with no significant change in cognition during this period (P = .18 > .05). The cognitive development was positively correlated with motor development (r = 0.533, P = .011). The results indicated that very early enzyme replacement therapy could protect cognitive development in patients with infantile-onset Pompe disease up to 24 months of age. © The Author(s) 2016.

Predictive value of the cow's milk skin prick test in infantile colic.

PubMed

Moravej, Hossein; Imanieh, Mohammad H; Kashef, Sara; Handjani, Farhad; Eghterdari, Fardin

2010-01-01

Infantile colic is a common problem among young infants. Cow's milk allergy has been suggested as one of the causes. We aimed to investigate the value of the cow's milk skin test for the diagnosis of cow's milk allergy in exclusively breast-fed infants with infantile colic. Exclusively breast-fed infants with infantile colic were enrolled in this study. On the first visit, the average hours of crying of the infant in a 24-h period were recorded and the cow's milk skin test was performed. If the infant had a positive skin test, elimination of cow's milk from the mothers' diet was advised. Infants with negative skin tests were divided into case and control groups. Cow's milk was eliminated from the diet of mothers in the case group. After 2 weeks, the number of hours of crying were recorded again. The reduction in the crying hours was compared between the two groups using the chi-square test. Skin tests were positive in 3 of 114 cases (2.6%) of infantile colic. All three cases recovered completely following elimination of cow's milk from the mother's diet. Among the 111 patients with negative skin tests, 77 patients completed the study: 35 in the case group and 42 in the control group. The reduction in crying hours in infants in the case group was not significantly different from that in the control group. Elimination of cow's milk from the mothers' diet is not beneficial for infants with a negative skin test. Infants with a positive skin test may benefit from this management.

Malignant hyperthermia

MedlinePlus

... about MH: Malignant Hyperthermia Association of the United States -- www.mhaus.org National Organization for Rare Disorders -- rarediseases.org/rare-diseases/malignant-hyperthermia NIH Genetics Home Reference -- ghr.nlm.nih.gov/condition/malignant-hyperthermia

Paraphilic infantilism, diaperism and pedophilia: A review.

PubMed

Doshi, Sunil M; Zanzrukiya, Kalpesh; Kumar, Lavlesh

2018-05-01

Paraphilic disorders range from nearly normal behaviour to a behaviour which may be considered as destructive or menacing to the society at large. In accordance with Diagnostic and Statistical Manual of Mental Disorders-V, the terms Paraphilia and Paraphilic disorders, denote different interpretations. Multiple paraphilias connected to childhood either directly or indirectly has been documented in scientific literature. Paraphilic Infantilism, Diaperism and Pedophilia constitute major portion among them. Paraphilic infantilism denotes paraphilic desire of being a baby. Diaperism deals with fetishistic behaviour in relation to diapers and pedophilia stands for sexual attraction towards children. Behaviourally these three paraphilias do share some characteristics and show overlapping of certain features, but psychologically they are diverse. In a number of literature on digital media, the terms have been used interchangeably or are described in a manner that creates confusion. However, when described individually they are precisely written, hence it necessitates to be elaborated collectively to surpass the current trends of mixing them. The review focuses on behavioral, developmental, psychological and legal aspects of these paraphilias. Copyright © 2018 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus

PubMed Central

Thomas, Mervyn G.; Crosier, Moira; Lindsay, Susan; Kumar, Anil; Thomas, Shery; Araki, Masasuke; Talbot, Chris J.; McLean, Rebecca J.; Surendran, Mylvaganam; Taylor, Katie; Leroy, Bart P.; Moore, Anthony T.; Hunter, David G.; Hertle, Richard W.; Tarpey, Patrick; Langmann, Andrea; Lindner, Susanne; Brandner, Martina

2011-01-01

Periodic alternating nystagmus consists of involuntary oscillations of the eyes with cyclical changes of nystagmus direction. It can occur during infancy (e.g. idiopathic infantile periodic alternating nystagmus) or later in life. Acquired forms are often associated with cerebellar dysfunction arising due to instability of the optokinetic-vestibular systems. Idiopathic infantile periodic alternating nystagmus can be familial or occur in isolation; however, very little is known about the clinical characteristics, genetic aetiology and neural substrates involved. Five loci (NYS1-5) have been identified for idiopathic infantile nystagmus; three are autosomal (NYS2, NYS3 and NYS4) and two are X-chromosomal (NYS1 and NYS5). We previously identified the FRMD7 gene on chromosome Xq26 (NYS1 locus); mutations of FRMD7 are causative of idiopathic infantile nystagmus influencing neuronal outgrowth and development. It is unclear whether the periodic alternating nystagmus phenotype is linked to NYS1, NYS5 (Xp11.4-p11.3) or a separate locus. From a cohort of 31 X-linked families and 14 singletons (70 patients) with idiopathic infantile nystagmus we identified 10 families and one singleton (21 patients) with periodic alternating nystagmus of which we describe clinical phenotype, genetic aetiology and neural substrates involved. Periodic alternating nystagmus was not detected clinically but only on eye movement recordings. The cycle duration varied from 90 to 280 s. Optokinetic reflex was not detectable horizontally. Mutations of the FRMD7 gene were found in all 10 families and the singleton (including three novel mutations). Periodic alternating nystagmus was predominantly associated with missense mutations within the FERM domain. There was significant sibship clustering of the phenotype although in some families not all affected members had periodic alternating nystagmus. In situ hybridization studies during mid-late human embryonic stages in normal tissue showed restricted

Maternal consumption of dairy products, calcium, and vitamin D during pregnancy and infantile allergic disorders.

PubMed

Miyake, Yoshihiro; Tanaka, Keiko; Okubo, Hitomi; Sasaki, Satoshi; Arakawa, Masashi

2014-07-01

Epidemiologic evidence of the association between maternal intake of dairy foods, calcium, and vitamin D during pregnancy and childhood allergic disorders is inconclusive. To examine the association between maternal intake of dairy foods, calcium, and vitamin D during pregnancy and childhood allergic disorders in Japanese children aged 23 to 29 months. Study participants were 1,354 mother-child pairs. Maternal intake during pregnancy was assessed with a validated diet history questionnaire administered between April 2007 and March 2008. Wheeze and eczema, defined according to criteria of the International Study of Asthma and Allergies in Childhood, and physician-diagnosed asthma and atopic eczema were assessed via a questionnaire completed by mothers. Higher maternal intake of total dairy products during pregnancy was significantly associated with a reduced risk of infantile eczema (adjusted odds ratio [OR] between extreme quartiles, 0.64; 95% confidence interval [CI], 0.42-0.98). Higher maternal intake of cheese during pregnancy was significantly related to a reduced risk of physician-diagnosed infantile asthma (adjusted OR between extreme quartiles, 0.44; 95% CI, 0.18-0.97). Maternal intake levels of yogurt and calcium during pregnancy were significantly inversely associated with physician-diagnosed infantile atopic eczema (adjusted ORs between extreme quartiles, 0.49 and 0.34; 95% CI, 0.20-1.16 and 0.12-0.84; P for trend = .01 and .03, respectively). Maternal intake of vitamin D during pregnancy was significantly positively associated with infantile eczema (adjusted OR between extreme quartiles, 1.63; 95% CI, 1.07-2.51). Higher maternal intake of total dairy products, cheese, yogurt, and calcium during pregnancy may reduce the risk of infantile eczema, physician-diagnosed asthma, physician-diagnosed atopic eczema, and physician-diagnosed atopic eczema, respectively. Higher maternal intake of vitamin D during pregnancy may increase the risk of infantile eczema

Infantile sexuality: Its place in the conceptual developments of Anna Freud and Donald W. Winnicott.

PubMed

Joyce, Angela

2016-06-01

This essay explores the place of infantile sexuality in the theories of Anna Freud and Donald W Winnicott. Both Anna Freud and D.W. Winnicott incorporated and at the same time changed the classical psychoanalytic account of infantile sexuality and the instinctual drives. Whilst Anna Freud remained closer to her father's original conceptualization, she developed a multidimensional model of development which gave the drives a foundational status whist also maintaining their significance in giving meaning and texture to children's subjective experience. Winnicott also retained much of S. Freud's original theorizing except that in a fundamental way he turned it on its head when considering earliest development. For him the establishment of the self was paramount, and the drives and infantile sexuality merely served to give substance to that self. Copyright © 2016 Institute of Psychoanalysis.

Inflammatory myofibroblastic tumors of the lung carrying a chimeric A2M-ALK gene: report of 2 infantile cases and review of the differential diagnosis of infantile pulmonary lesions.

PubMed

Tanaka, Mio; Kohashi, Kenichi; Kushitani, Kei; Yoshida, Misa; Kurihara, Sho; Kawashima, Masumi; Ueda, Yuka; Souzaki, Ryota; Kinoshita, Yoshiaki; Oda, Yoshinao; Takeshima, Yukio; Hiyama, Eiso; Taguchi, Tomoaki; Tanaka, Yukichi

2017-08-01

We report 2 infantile cases of pulmonary tumor carrying a chimeric A2M-ALK gene. A2M-ALK is a newly identified anaplastic lymphoma kinase (ALK)-related chimeric gene from a tumor diagnosed as fetal lung interstitial tumor (FLIT). FLIT is a recently recognized infantile pulmonary lesion defined as a mass-like lesion that morphologically resembles the fetal lung. Grossly, FLIT characteristically appears as a well-circumscribed spongy mass, whereas the tumors in these patients were solid and firm. Histologically, the tumors showed intrapulmonary lesions composed of densely proliferating polygonal or spindle-shaped mesenchymal cells with diffuse and dense infiltrations of inflammatory cells forming microcystic or micropapillary structures lined by thyroid transcription factor 1-positive pneumocytes, favoring inflammatory myofibroblastic tumor rather than FLIT. The proliferating cells were immunoreactive for ALK, and A2M-ALK was identified in both tumors with reverse-transcription polymerase chain reaction. The dense infiltration of inflammatory cells, immunoreactivity for ALK, and identification of an ALK-related chimeric gene suggested a diagnosis of inflammatory myofibroblastic tumor. Histologically, most reported FLITs show sparse inflammatory infiltrates and a relatively low density of interstitial cells in the septa, although prominent infiltration of inflammatory cells and high cellularity of interstitial cells are seen in some FLITs. The present cases suggest that ALK rearrangements, including the chimeric A2M-ALK gene, may be present in these infantile pulmonary lesions, especially those with inflammatory cell infiltration. We propose that these infantile pulmonary lesions containing a chimeric A2M-ALK gene be categorized as a specific type of inflammatory myofibroblastic tumor that develops exclusively in neonates and infants. Copyright © 2017 Elsevier Inc. All rights reserved.

Serial elongation derotation flexion (EDF) casting for patients with infantile and juvenile scoliosis.

PubMed

Canavese, Federico; Rousset, Marie; Mansour, Mounira; Samba, Antoine; Dimeglio, Alain

2016-02-01

Infantile and juvenile scoliosis, among different types of spinal deformity, is still a challenge for pediatric orthopedic surgeons. The ideal treatment of infantile and juvenile scoliosis has not yet been identified as both clinicians and surgeons still face multiple challenges, including preservation of the thoracic spine, thoracic cage, lung growth and cardiac function without reducing spinal motion. Elongation, derotation, flexion (EDF) casting technique is a custom-made thoracolumbar cast based on a three dimensional correction concept. This cast offers three-dimensional correction and can control the evolution of the deformity in some cases. Spinal growth can be guided by EDF casting as it can influence the initially curved spine to grow straighter. This article aimed to provide a comprehensive review of how infantile and juvenile scoliosis can affect normal spine and thorax and how these deformities can be treated with serial EDF casting technique. A current literature review is mandatory in order to understand the principles of the serial EDF casting technique and the effectiveness of conservative treatment in young and very young patients.

Three solutions to a single problem: alternative casting frames for treating infantile idiopathic scoliosis.

PubMed

Halanski, Matthew A; Harper, Benjamin L; Cassidy, Jeffry A; Crawford, Haemish A

2013-07-01

This is a technique article discussing 3 alternative frames for casting children with infantile scoliosis. To provide surgeons with alternatives to expensive specialized casting tables to allow local treatment of these children utilizing readily available materials present at most institutions. Casting for infantile scoliosis has become more popular as reports have shown promising results with this technique without the morbidity and complications associated with more invasive procedures. However, without a specialized casting table, treating these patients has been limited to a few centers throughout the country often causing patients to travel large distances to receive care. Three different alternatives to commercially available casting frames are presented. Requirements, setup, and techniques are discussed. Each surgeon has had success with each of these frames. These provide adequate support and traction while allowing enough access to the trunk to apply a well-molded cast. Cotrel/Metha casting for infantile scoliosis can be accomplished without a specialized table using commonly available equipment.

Clinical profile of vigabatrin as monotherapy for treatment of infantile spasms

PubMed Central

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

2010-01-01

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

Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature.

PubMed

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

2010-05-01

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

Infantile-onset Pompe disease with neonatal debut

PubMed Central

Martínez, Miriam; Romero, Mar García; Guereta, Luis García; Cabrera, Marta; Regojo, Rita M.; Albajara, Luis; Couce, Maria L.; de Pipaon, Miguel Saenz

2017-01-01

Abstract Rationale: Infantile-onset Pompe disease, also known as glycogen storage disease type II, is a progressive and fatal disorder without treatment. Enzyme replacement therapy with recombinant human acid alpha-glucosidase (GAA) enhances survival; however, the best outcomes have been achieved with early treatment. Patient concerns: We report a case of a newborn with infantile-onset Pompe disease diagnosed in the first days of life who did not undergo universal neonatal screening. The patient was asymptomatic, with a general physical examination revealing only a murmur. The clinical presentation was dominated by the neonatal detection of hypertrophic cardiomyopathy, without hypotonia or macroglossia. Diagnoses: Pompe disease was confirmed in the first week of life by GAA activity in dried blood spots, and a GAA genetic study showed the homozygous mutation p.Arg854X. Interventions: Parents initially refused replacement therapy. Outcomes: The patient experienced recurrent episodes of ventricular fibrillation during central line placement and could not be resuscitated. Lessons: Although Pompe disease is rare, and universal screening has not been established, neonatologists should be alerted to the diagnosis of Pompe in the presence of hypertrophic cardiomyopathy. Diagnosis is achieved in a few days with the aid of dried blood spots. PMID:29390460

MRI Brain Volume Measurements in Infantile Neuronal Ceroid Lipofuscinosis.

PubMed

Baker, E H; Levin, S W; Zhang, Z; Mukherjee, A B

2017-02-01

Infantile neuronal ceroid lipofuscinosis is a devastating neurodegenerative storage disease caused by palmitoyl-protein thioesterase 1 deficiency, which impairs degradation of palmitoylated proteins (constituents of ceroid) by lysosomal hydrolases. Consequent lysosomal ceroid accumulation leads to neuronal injury, resulting in rapid neurodegeneration and childhood death. As part of a project studying the treatment benefits of a combination of cysteamine bitartrate and N -acetyl cysteine, we made serial measurements of patients' brain volumes with MR imaging. Ten patients with infantile neuronal ceroid lipofuscinosis participating in a treatment/follow-up study underwent brain MR imaging that included high-resolution T1-weighted images. After manual placement of a mask delineating the surface of the brain, a maximum-likelihood classifier was applied to determine total brain volume, further subdivided as cerebrum, cerebellum, brain stem, and thalamus. Patients' brain volumes were compared with those of a healthy population. Major subdivisions of the brain followed similar trajectories with different timing. The cerebrum demonstrated early, rapid volume loss and may never have been normal postnatally. The thalamus dropped out of the normal range around 6 months of age; the cerebellum, around 2 years of age; and the brain stem, around 3 years of age. Rapid cerebral volume loss was expected on the basis of previous qualitative reports. Because our study did not include a nontreatment arm and because progression of brain volumes in infantile neuronal ceroid lipofuscinosis has not been previously quantified, we could not determine whether our intervention had a beneficial effect on brain volumes. However, the level of quantitative detail in this study allows it to serve as a reference for evaluation of future therapeutic interventions. © 2017 by American Journal of Neuroradiology.

Familial association of specific histologic types of ovarian malignancy with other malignancies.

PubMed

Lorenzo Bermejo, Justo; Rawal, Rajesh; Hemminki, Kari

2004-04-01

Population-based data on the familial association of specific histologic types of ovarian malignancy with other malignancies are limited. Such data may help to elucidate etiologic differences among histologic types of ovarian malignancy. The nationwide Swedish Family-Cancer Database, which includes 10.3 million individuals and 20,974 ovarian carcinomas, was used to calculate standardized incidence ratios and 95% confidence intervals for age- and histology-specific ovarian malignancies in women whose parents or siblings were affected with malignancies at the most common disease sites. Ovarian malignancy was found to be associated with ovarian, laryngeal, breast, endometrial, liver, and colon carcinoma, as well as myeloma; epithelial ovarian malignancy was found to be associated with ovarian, endometrial, and skin malignancies and with melanoma and myeloma; papillary serous cystadenocarcinoma was found to be associated with ovarian and skin malignancies and with myeloma; and endometrioid carcinoma was found to be associated with endometrial, ovarian, and prostate malignancies and with melanoma. For younger women (ages 40-45 years) whose mothers were affected with endometrial malignancies, the risk of developing endometrioid carcinoma was slightly greater than the risk of developing papillary serous cystadenocarcinoma. Specific types of ovarian malignancy may be associated with specific familial disease sites, with such associations depending on age at diagnosis; the strength of the observed associations varied according to histology. Associations were found between endometrioid carcinoma and endometrial malignancy and between serous carcinoma and Hodgkin disease. Copyright 2004 American Cancer Society.

Environmental and dietary risk factors for infantile atopic eczema among a Slovak birth cohort.

PubMed

Dunlop, Anne L; Reichrtova, Eva; Palcovicova, Luba; Ciznar, Peter; Adamcakova-Dodd, Andrea; Smith, S J; McNabb, Scott J N

2006-03-01

Infantile atopic eczema (AE) is a risk marker for future asthma. This study assesses the contribution of modifiable exposures to infantile AE. If modifiable exposures contribute substantially to infantile AE, its prevention might be a sensible approach to asthma prevention. Pregnant women (n = 1978) were systematically recruited from maternity hospitals of the Slovak Republic; their birthed cohort of 1990 children were prospectively followed for 1 yr. Children's exposures to selected environmental and dietary factors were assessed via maternal questionnaires administered at delivery and 1 yr of age. A child was considered to have AE, based on physical examination (SCORAD index >2) or mother's report of a previous physician diagnosis. Multivariate logistic regression was used to calculate adjusted odds ratios and percent total regression scores (TRS) for each variable. At 1 yr of age 1326 (67%) of the children remained in the cohort and 207 (15.6%) developed AE. Various modifiable environmental and dietary exposures increased the likelihood of AE (ownership of cats; consumption of infant formula, eggs, and fish) while others decreased the likelihood of AE (ownership of livestock; exclusive breast feeding for > or =4 months). Overall, modifiable exposures contributed less to the TRS than did non-modifiable exposures (38% vs. 62%, respectively). The modifiable exposure category that contributed most to the TRS was infant feeding practices (27.5% TRS). Modifiable exposures -- especially those related to infant feeding practices -- significantly contribute to infantile AE, although modifiable factors contribute less overall than do non-modifiable exposures.

Casting for infantile scoliosis: the pitfall of increased peak inspiratory pressure.

PubMed

Dhawale, Arjun A; Shah, Suken A; Reichard, Samantha; Holmes, Laurens; Brislin, Robert; Rogers, Kenneth; Mackenzie, William G

2013-01-01

Serial cast correction is a popular treatment option for progressive infantile scoliosis. Body casting can lead to chest and abdominal expansion restriction and result in decreased chest wall compliance. There are no studies evaluating the effects of casting on ventilation in infantile scoliosis. This study examines changes in peak inspiratory pressure (PIP) during serial casting for infantile scoliosis. We retrospectively reviewed data obtained from 37 serial Cotrel elongation, derotation, and flexion cast corrections in patients with infantile scoliosis. Patient demographics, radiographic measurements, and anesthesia data were recorded. Anesthesia technique was standardized: children were intubated with rigid endotracheal tubes (ETTs); tidal volume was held constant at 8 to 10 cm(3)/kg using volume control ventilation; and PIP was recorded at baseline, after cast application before window cutout, and after window cutout before extubation. Any complications were documented. We assessed the PIP changes with a repeated measures analysis of variance (ANOVA). The mean age at first casting was 21.8 months (range, 12 to 42 mo) and mean follow-up since first casting was 22.4 months (range, 13 to 40 mo) with mean major Cobb angle of 53±15 degrees. The mean PIP was 15.5±4.9 cm H(2)O before casting, 31.9±7.9 cm H(2)O after cast application, and 20.4±5.6 cm H2O after making windows. There was a 106% increase after casting and 32% increase after window cutout from the baseline PIP levels. There was a significant difference in PIP on repeated measures ANOVA (P<0.0001). Intraoperatively, there was difficulty in maintaining ventilation during 2 procedures and 1 hypotensive episode. One patient developed hypoxemia after casting and another had delayed difficulty in breathing. Casting resulted in an increased PIP due to transient restrictive pulmonary process; after windows were cut out, the PIP reduced but not to baseline. In patients with underlying pulmonary disease, the

TFG-MET fusion in an infantile spindle cell sarcoma with neural features.

PubMed

Flucke, Uta; van Noesel, Max M; Wijnen, Marc; Zhang, Lei; Chen, Chun-Liang; Sung, Yun-Shao; Antonescu, Cristina R

2017-09-01

An increasing number of congenital and infantile sarcomas displaying a primitive, monomorphic spindle cell phenotype have been characterized to harbor recurrent gene fusions, including infantile fibrosarcoma and congenital spindle cell rhabdomyosarcoma. Here, we report an unusual spindle cell sarcoma presenting as a large and infiltrative pelvic soft tissue mass in a 4-month-old girl, which revealed a novel TFG-MET gene fusion by whole transcriptome RNA sequencing. The tumor resembled the morphology of an infantile fibrosarcoma with both fascicular and patternless growth, however, it expressed strong S100 protein immunoreactivity, while lacking SOX10 staining and retaining H3K27me3 expression. Although this immunoprofile suggested partial neural/neuroectodermal differentiation, overall features were unusual and did not fit into any known tumor types (cellular schwannoma, MPNST), raising the possibility of a novel pathologic entity. The TFG-MET gene fusion expands the genetic spectrum implicated in the pathogenesis of congenital spindle cell sarcomas, with yet another example of kinase oncogenic activation through chromosomal translocation. The discovery of this new fusion is significant since the resulting MET activation can potentially be inhibited by targeted therapy, as MET inhibitors are presently available in clinical trials. © 2017 Wiley Periodicals, Inc.

Malignant hypertension

MedlinePlus

... Nephrosclerosis - arteriolar; Hypertension - malignant; High blood pressure - malignant Images Hypertensive kidney References Archbold A, Naish J. The cardiovascular system. In: Naish J, Court DS, ...

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

PubMed Central

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

2014-01-01

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

A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease.

PubMed

Wang, Zhaohui; Okamoto, Patricia; Keutzer, Joan

2014-02-01

Pompe disease is caused by a deficiency of acid α-glucosidase (GAA; EC, 3.2.1.20), and the infantile-onset form is rapidly fatal if left untreated. However, recombinant human GAA (rhGAA) enzyme replacement therapy (ERT) extends survival for infantile Pompe patients. Although cross-reactive immunologic material (CRIM)-negative patients, who lack detectable endogenous GAA, mount an immune response to rhGAA that renders the therapy ineffective, timely induction of immune tolerance in these patients may improve clinical outcomes. Previously, CRIM status has been determined by Western blot analysis in cultured skin fibroblasts, a process that can take a few weeks. We present a blood-based CRIM assay that can yield results within 48 to 72 h. Results from this assay have been confirmed by GAA Western blot analysis in fibroblasts or by GAA sequencing in a small number of Pompe disease patients. Rapid classification of CRIM status will assist in identifying the most effective treatment course and minimizing treatment delays in patients with infantile-onset Pompe disease. © 2013.

Infantile genetic agranulocytosis, morbus Kostmann: presentation of six cases from the original "Kostmann family" and a review.

PubMed

Carlsson, G; Fasth, A

2001-07-01

In 1956 Rolf Kostmann reported on six children with severe neutropenia associated with a block in myelopoiesis at the promyelocyte/myelocyte stage and an autosomal recessive inheritance. He named the new syndrome infantile genetic agranulocytosis. Today it is known as Kostmann's syndrome or severe congenital neutropenia. In 1975 an additional 10 cases from northern Sweden were published. This article reports on the only long-term survivor from the 1975 report plus another five patients born after 1975 who belong to the original "Kostmann family". Treatment and survival have changed dramatically since Kostmann's first publication. In the pre-antibiotic era, Kostmann's syndrome was inevitably fatal during the first year of life. Since the introduction of recombinant human granulocyte colony-stimulating factor (G-CSF) about 10 y ago, most patients now enjoy a normal life span and a greatly improved quality of life. Although the threat of death has disappeared, patients still have problems with infections, especially chronic gingivitis and periodontitis. In other groups of severe neutropenia, not related to the original "Kostmann family", an increased incidence of myeloid leukaemia has been observed. However, in this small cohort none of the children on chronic G-CSF therapy have developed malignancies.

Vigabatrin therapy implicates neocortical high frequency oscillations in an animal model of infantile spasms.

PubMed

Frost, James D; Le, John T; Lee, Chong L; Ballester-Rosado, Carlos; Hrachovy, Richard A; Swann, John W

2015-10-01

Abnormal high frequency oscillations (HFOs) in EEG recordings are thought to be reflections of mechanisms responsible for focal seizure generation in the temporal lobe and neocortex. HFOs have also been recorded in patients and animal models of infantile spasms. If HFOs are important contributors to infantile spasms then anticonvulsant drugs that suppress these seizures should decrease the occurrence of HFOs. In experiments reported here, we used long-term video/EEG recordings with digital sampling rates capable of capturing HFOs. We tested the effectiveness of vigabatrin (VGB) in the TTX animal model of infantile spasms. VGB was found to be quite effective in suppressing spasms. In 3 of 5 animals, spasms ceased after a daily two week treatment. In the other 2 rats, spasm frequency dramatically decreased but gradually increased following treatment cessation. In all animals, hypsarrhythmia was abolished by the last treatment day. As VGB suppressed the frequency of spasms, there was a decrease in the intensity of the behavioral spasms and the duration of the ictal EEG event. Analysis showed that there was a burst of high frequency activity at ictal onset, followed by a later burst of HFOs. VGB was found to selectively suppress the late HFOs of ictal complexes. VGB also suppressed abnormal HFOs recorded during the interictal periods. Thus VGB was found to be effective in suppressing both the generation of spasms and hypsarrhythmia in the TTX model. Vigabatrin also appears to preferentially suppress the generation of abnormal HFOs, thus implicating neocortical HFOs in the infantile spasms disease state. Copyright © 2015 Elsevier Inc. All rights reserved.

Vigabatrin Therapy Implicates Neocortical High Frequency Oscillations in an Animal Model of Infantile Spasms

PubMed Central

Frost, James D.; Le, John T.; Lee, Chong L.; Ballester-Rosado, Carlos; Hrachovy, Richard A.; Swann, John W.

2015-01-01

Abnormal high frequency oscillations (HFOs) in EEG recordings are thought to be reflections of mechanisms responsible for focal seizure generation in the temporal lobe and neocortex. HFOs have also been recorded in patients and animal models of infantile spasms. If HFOs are important contributors to infantile spasms then anticonvulsant drugs that suppress these seizures should decrease the occurrence of HFOs. In experiments reported here, we used long-term video/EEG recordings with digital sampling rates capable of capturing HFOs. We tested the effectiveness of vigabatrin (VGB) in the TTX animal model of infantile spasms. VGB was found to be quite effective in suppressing spasms. In 3 of 5 animals, spasms ceased after a daily two week treatment. In the other 2 rats, spasm frequency dramatically decreased but gradually increased following treatment cessation. In all animals, hypsarrhythmia was abolished by the last treatment day. As VGB suppressed the frequency of spasms, there was a decrease in the intensity of the behavioral spasms and the duration of the ictal EEG event. Analysis showed that there was a burst of high frequency activity at ictal onset, followed by a later burst of HFOs. VGB was found to selectively suppress the late HFOs of ictal complexes. VGB also suppressed abnormal HFOs recorded during the interictal periods. Thus VGB was found to be effective in suppressing both the generation of spasms and hypsarrhythmia in the TTX model. Vigabatrin also appears to preferentially suppress the generation of abnormal HFOs, thus implicating neocortical HFOs in the infantile spasms disease state. PMID:26026423

Chorea in Late-Infantile Neuronal Ceroid Lipofuscinosis: An Atypical Presentation.

PubMed

Saini, Arushi Gahlot; Sankhyan, Naveen; Singhi, Pratibha

2016-07-01

Classic late-infantile neuronal ceroid lipofuscinosis is characterized by progressive intellectual and motor deterioration, seizures, vision loss, and early death. Prominent chorea is an atypical feature and is rarely described in children. A four-year-old girl with seizures followed by a year-long progressive cognitive decline and a three month history of intermittent chorea leading to rapid motor deterioration. The onset of illness was marked by seizures occurring as generalized tonic-clonic seizures and myoclonic jerks. There was gradual regression of cognitive milestones with increasing forgetfulness and impaired quality and content of speech. Nine months later, she developed chorea. These movements were associated with clumsiness, incoordination, and progressive loss of motor milestones. She was unable to perform manual tasks or maintain antigravity posture resulting in unsteadiness and frequent falls. The movements were aggravated by action or excitement and were absent in sleep. Magnetic resonance imaging depicted diffuse cerebral and cerebellar atrophy. Sequencing analysis of TPP1 gene showed a novel, homozygous, splice site mutation c.89+1G>A which resulted in nil enzyme activity and a severe phenotype with onset of disease symptoms at an early age of three years. The presence of chorea in late-infantile neuronal ceroid lipofuscinoses is atypical but does not exclude the diagnosis of late-infantile neuronal ceroid lipofuscinoses, especially in children with psychomotor regression, seizures and diffuse brain atrophy. Copyright © 2016 Elsevier Inc. All rights reserved.

Infantile Spasms and Cytomegalovirus Infection: Antiviral and Antiepileptic Treatment

ERIC Educational Resources Information Center

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

2007-01-01

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

The Organic Etiology of Infantile Autism: Myth or Fact?

ERIC Educational Resources Information Center

Sanua, Victor D.

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

Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia

PubMed Central

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

2016-01-01

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

Effects of respiratory muscle training (RMT) in children with infantile-onset Pompe disease and respiratory muscle weakness.

PubMed

Jones, Harrison N; Crisp, Kelly D; Moss, Tronda; Strollo, Katherine; Robey, Randy; Sank, Jeffrey; Canfield, Michelle; Case, Laura E; Mahler, Leslie; Kravitz, Richard M; Kishnani, Priya S

2014-01-01

Respiratory muscle weakness is a primary therapeutic challenge for patients with infantile Pompe disease. We previously described the clinical implementation of a respiratory muscle training (RMT) regimen in two adults with late-onset Pompe disease; both demonstrated marked increases in inspiratory and expiratory muscle strength in response to RMT. However, the use of RMT in pediatric survivors of infantile Pompe disease has not been previously reported. We report the effects of an intensive RMT program on maximum inspiratory pressure (MIP) and maximum expiratory pressure (MEP) using A-B-A (baseline-treatment-posttest) single subject experimental design in two pediatric survivors of infantile Pompe disease. Both subjects had persistent respiratory muscle weakness despite long-term treatment with alglucosidase alfa. Subject 1 demonstrated negligible to modest increases in MIP/MEP (6% increase in MIP, d=0.25; 19% increase in MEP, d=0.87), while Subject 2 demonstrated very large increases in MIP/MEP (45% increase in MIP, d=2.38; 81% increase in MEP, d=4.31). Following three-month RMT withdrawal, both subjects maintained these strength increases and demonstrated maximal MIP and MEP values at follow-up. Intensive RMT may be a beneficial treatment for respiratory muscle weakness in pediatric survivors of infantile Pompe disease.

Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain.

PubMed

Ebbink, Berendine J; Poelman, Esther; Aarsen, Femke K; Plug, Iris; Régal, Luc; Muentjes, Carsten; van der Beek, Nadine A M E; Lequin, Maarten H; van der Ploeg, Ans T; van den Hout, Johanna M P

2018-06-01

To examine the long-term consequences of glycogen storage in the central nervous system (CNS) for classic infantile Pompe disease using enzyme replacement therapy. Using neuropsychological tests and brain magnetic resonance imaging (MRI), we prospectively assessed a cohort of 11 classic infantile Pompe patients aged up to 17 years. From approximately age 2 years onwards, brain MRI showed involvement of the periventricular white matter and centrum semiovale. After 8 years of age, additional white-matter abnormalities occurred in the corpus callosum, internal and external capsule, and subcortical areas. From 11 years of age, white-matter abnormalities were also found in the brainstem. Although there seemed to be a characteristic pattern of involvement over time, there were considerable variations between patients, reflected by variations in neuropsychological development. Cognitive development ranged from stable and normal to declines that lead to intellectual disabilities. As treatment enables patients with classic infantile Pompe disease to reach adulthood, white-matter abnormalities are becoming increasingly evident, affecting the neuropsychological development. Therefore, we advise follow-up programs are expanded to capture CNS involvement in larger, international patient cohorts, to incorporate our findings in the counselling of parents before the start of treatment, and to include the brain as an additional target in the development of next-generation therapeutic strategies for classic infantile Pompe disease. In our long-term survivors treated intravenously with enzyme replacement therapy, we found slowly progressive symmetric white-matter abnormalities. Cognitive development varied from stable and normal to declines towards intellectual disabilities. © 2018 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.

Suppression of metabolic activity caused by infantile strabismus and strabismic amblyopia in striate visual cortex of macaque monkeys.

PubMed

Wong, Agnes M F; Burkhalter, Andreas; Tychsen, Lawrence

2005-02-01

Suppression is a major sensorial abnormality in humans and monkeys with infantile strabismus. We previously reported evidence of metabolic suppression in the visual cortex of strabismic macaques, using the mitochondrial enzyme cytochrome oxidase as an anatomic label. The purpose of this study was to further elucidate alterations in cortical metabolic activity, with or without amblyopia. Six macaque monkeys were used in the experiments (four strabismic and two control). Three of the strabismic monkeys had naturally occurring, infantile strabismus (two esotropic, one exotropic). The fourth strabismic monkey had infantile microesotropia induced by alternating monocular occlusion in the first months of life. Ocular motor behaviors and visual acuity were tested after infancy in each animal, and development of stereopsis was recorded during infancy in one strabismic and one control monkey. Ocular dominance columns (ODCs) of the striate visual cortex (area V1) were labeled using cytochrome oxidase (CO) histochemistry alone, or CO in conjunction with an anterograde tracer ([H 3 ]proline or WGA-HRP) injected into one eye. Each of the strabismic monkeys showed inequalities of metabolic activity in ODCs of opposite ocularity, visible as rows of lighter CO staining, corresponding to ODCs of lower metabolic activity, alternating with rows of darker CO staining, corresponding to ODCs of higher metabolic activity. In monkeys who had infantile strabismus and unilateral amblyopia, lower metabolic activity was found in (suppressed) ODCs driven by the nondominant eye in each hemisphere. In monkeys who had infantile esotropia and alternating fixation (no amblyopia), metabolic activity was lower in ODCs driven by the ipsilateral eye in each hemisphere. The suppression included a monocular core zone at the center of ODCs and binocular border zones at the boundaries of ODCs. This suppression was not evident in the monocular lamina of the LGN, indicating an intracortical rather than

Oscillopsia in "inverse latent" infantile nystagmus syndrome.

PubMed

Abel, Larry A; Malesic, Linda A

2007-11-01

A possibly unique individual with infantile nystagmus syndrome presented with incessant oscillopsia but good stereopsis when viewing binocularly; her nystagmus was greatly reduced with left eye occlusion. We have attempted to explain this and to identify an intervention that preserves binocular vision while maximizing perceptual stability. Eye movements were recorded and analyzed for duration of foveation (% time when the target was on or near the fovea and the eye was moving at < or = 4 degrees /sec) under different viewing conditions. Changes in foveation were compared with the patient's reports of her perceptual stability. In her right gaze null with her right eye fixating, foveation was 52.9%. This fell to 32.3% for the same eye in primary position and to 0.8% when viewing binocularly in primary position. When viewing binocularly oscillopsia was incessant; when viewing with her right eye vision was stable except in left gaze. Prism correction of her phoria greatly reduced her oscillopsia when viewing binocularly while preserving stereopsis; foveation went up to 33.7%. The patient's ability to maintain good foveation only when viewing with her right eye forces her to choose between stereopsis and stable vision. This may result from the rare combination of (1) requiring good foveation for oscillopsia suppression and (2) nystagmus deteriorating under the stress of maintaining binocularity. There may be many other infantile nystagmus syndrome patients who do not develop oscillopsia but may suffer sufficient asthenopia from a phoria to exacerbate their nystagmus.

A self-controlled study of intralesional injection of diprospan combined with topical timolol cream for treatment of thick superficial infantile hemangiomas.

PubMed

Xu, Peng; Yu, Qian; Huang, Huizhen; Zhang, Wenjie; Li, Wei

2018-04-30

Topical application of timolol cream is effective and convenient for treating superficial infantile hemangiomas. Intralesional injection of corticosteroids, such as diprospan, is useful for the treatment of superficia infantile hemangiomas without systemic side effects. We conducted a self-controlled study to investigate whether a combination of intralesional injection of diprospan with topical timolol 0.5% cream would be more efficient than timolol cream alone in thick superficial infantile hemangiomas. Thirty-eight patients with 39 thick superficial infantile hemangiomas were recruited. Each lesion was randomly divided into two equal parts: one part was treated with topical timolol 0.5% cream (timolol cream group), while the other part was treated with injection of diprospan combined with topical timolol 0.5% cream (combined treatment group). Infants were followed every 4 weeks to determine whether injections should be continued, and timolol cream was applied four times daily for 5 months. During 5 months of treatment, three specialist physicians were invited to evaluate the therapeutic effects. The combined treatment group showed better lesion involution than did the timolol cream group regarding lesion thickness and color of lesions. The combination of intralesional injection of diprospan with topical timolol 0.5% cream is a suitable and safe strategy for thick superficial infantile hemangiomas. © 2018 Wiley Periodicals, Inc.

Surgical Treatments for Infantile Purulent Meningitis Complicated by Subdural Effusion.

PubMed

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

2015-10-20

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

Surgical Treatments for Infantile Purulent Meningitis Complicated by Subdural Effusion

PubMed Central

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

2015-01-01

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

Unilateral Recession-Resection Surgery for Infantile Esotropia: Survival of Motor Outcomes and Postoperative Drifts.

PubMed

Chatzistefanou, Klio I; Brouzas, Dimitrios; Droutsas, Konstantinos D; Koutsandrea, Chryssanthi; Chimonidou, Eleutheria

2017-05-10

To outline the short- and long-term motor outcomes of unilateral medial rectus muscle recession and lateral rectus muscle resection for the correction of moderate angle infantile esotropia. A retrospective study of 109 consecutive patients with moderate angle infantile esotropia treated with graded unilateral recession-resection surgery. Criteria for successful motor outcome included alignment ±10Δ from orthophoria. Outcome evaluation was a comparison of successful alignment versus an overcorrection or undercorrection at eight weeks postoperatively as well as on the final follow-up examination. The mean preoperative deviation was 35.5 prism diopters (Δ) and mean follow-up time was 4.9 years. At the eight-week postoperative examination, 99 patients (89.9%) were successfully aligned, as opposed to 75 of 95 patients (78.9%) at the final postoperative visit (P=0.041). There was no statistically significant difference between the rate of early versus late undercorrections (7.3% versus 12.5%, P=0.267) or overcorrections (2.7% versus 8.3%, P=0.125). Ten patients had an esotropic drift over time and 10 patients had an exotropic drift. Recurrent esotropia was associated with high hyperopia and presumed infantile esotropia diagnostic entity. The Kaplan-Meier estimate of survivorship of a successful motor outcome was 75.5% at five years and 71% at 15 years postoperatively. The mean response to surgery was 2.9Δ per mm of muscle recessed and resected and was positively related to the preoperative angle of deviation (R=0.615). The unilateral recession-resection procedure for the correction of infantile esotropia is shown to be associated with a favorable survival of motor outcomes and a relatively balanced rate of undercorrections versus overcorrections tending to be maintained through the follow-up period.

Infantile masturbation in an African female: is this a justification for female genital cutting?

PubMed

Otaigbe, Barbara Edewele

2008-05-01

Masturbation is a taboo and not discussed openly in Africa. It is still worse when it occurs in an infant and will thus call for a visit to the traditional healers for 'spiritual intervention' and prompt female genital cutting/mutilation to reduce the child's libido and risk of sexual promiscuity as she gets older. Because of its peculiar presentation in children without manual genital stimulation, it is often misdiagnosed. A Medline search showed sparse information on infantile masturbation and none from Africa. A 15-month-old female was brought into a clinic in Port Harcourt, Nigeria, with a history of unusual rocking with adduction of the thighs noticed since 3 months of age. At 10 months of age, the child would lean forward and rock continuously on a hard surface such as a chair or an adult's lap. Rocking was accompanied with lip smacking, eye rolling, shaking, "watching of television in the air", spasm and feeling of fatigue and then resumption of the motions unless she was distracted. The child had been spanked occasionally by both parents with no noticeable change in behavior. Older female relatives had suggested female genital cutting or circumcision, but her father resisted vehemently. Infantile masturbation was viewed by the pediatrician and a 10-minute video recording was taken to confirm the diagnosis. The mother was reassured, counseled about behavioral and environmental modification. There was a marked improvement when the baby was seen 6 weeks later. Infantile masturbation rarely diagnosed in our region is probably due to a low index of suspicion and because mothers are afraid of stigma. We suggest that infantile masturbation should always be considered as a differential diagnosis of strange movement mimicking epilepsy in infants, and when a diagnosis is made parents should be counseled against female genital cutting. A video recording is encouraged fora correct diagnosis.

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients

PubMed Central

Archer, H L; Evans, J; Edwards, S; Colley, J; Newbury‐Ecob, R; O'Callaghan, F; Huyton, M; O'Regan, M; Tolmie, J; Sampson, J; Clarke, A; Osborne, J

2006-01-01

Objective To determine the frequency of mutations in CDKL5 in both male and female patients with infantile spasms or early onset epilepsy of unknown cause, and to consider whether the breadth of the reported phenotype would be extended by studying a different patient group. Methods Two groups of patients were investigated for CDKL5 mutations. Group 1 comprised 73 patients (57 female, 16 male) referred to Cardiff for CDKL5 analysis, of whom 49 (42 female, 7 male) had epileptic seizure onset in the first six months of life. Group 2 comprised 26 patients (11 female, 15 male) with infantile spasms previously recruited to a clinical trial, the UK Infantile Spasms Study. Where a likely pathogenic mutation was identified, further clinical data were reviewed. Results Seven likely pathogenic mutations were found among female patients from group 1 with epileptic seizure onset in the first six months of life, accounting for seven of the 42 in this group (17%). No mutations other than the already published mutation were found in female patients from group 2, or in any male patient from either study group. All patients with mutations had early signs of developmental delay and most had made little developmental progress. Further clinical information was available for six patients: autistic features and tactile hypersensitivity were common but only one had suggestive Rett‐like features. All had a severe epileptic seizure disorder, all but one of whom had myoclonic jerks. The EEG showed focal or generalised changes and in those with infantile spasms, hypsarrhythmia. Slow frequencies were seen frequently with a frontal or fronto‐temporal predominance and high amplitudes. Conclusions The spectrum of the epileptic seizure disorder, and associated EEG changes, in those with CDKL5 mutations is broader than previously reported. CDKL5 mutations are a significant cause of infantile spasms and early epileptic seizures in female patients, and of a later intractable seizure disorder

Malignant disease and dentistry.

PubMed

Walton, Graham; Seymour, Robin A

2009-11-01

Reports of an ageing population, increasing incidence of malignancy and improved treatments mean that dentists may have an increasing number of patients with, or who have recovered from, a malignancy. Dental professionals are expected to have an understanding of this important disease group so that appropriate dental care can be provided safely. In this first of three articles, we shall describe the important epidemiological and clinical features of the commonest malignancies in the United Kingdom. Dentists should understand the clinical implications of a patient with, or recovering from, a malignancy. This article gives a summary of the relevant features of the commonest malignancies.

[The maternal effect in infantile autism: elevated DNA damage degree in patients and their mothers].

PubMed

Porokhovnik, L N; Kostyuk, S V; Ershova, E S; Stukalov, S M; Veiko, N N; Korovina, N Yu; Gorbachevskaya, N L; Sorokin, A B; Lyapunova, N A

2016-05-01

Infantile autism is a common disorder of mental development, which is characterized by impairments in the communicative, cognitive and speech spheres and obsessional stereotyped behaviour. Although in most cases, pathogenic factors remain unclear, infantile autism has a significant hereditary component, however, its etiology is also under the influence of environmental factors, including the condition of the mother's body during pregnancy ("maternal effect"). Oxidative stress is assumed to play a key role in the pathogenesis of infantile autism. It is known that oxidative stress has a prominent genotoxic effect, which is realized through inducing single and double strand breaks of the nuclear DNA. We evaluated the degree of DNA damage in patients with infantile autism and their mothers using DNA comet assay. The comet tail moment and DNA per cent ratio in the tail were assessed for each individual. The two parameters appeared to be strongly correlated (r=0.90). Mean and median values of both parameters were considerably higher in the sample of autistic children, than in age-matching healthy controls. Interestingly, these parameters were also elevated in healthy mothers of autistic children, with no difference from the values in the group of autistic children. The control group of healthy women of reproductive age, who had no children with autism, differed by the DNA comet tail moment from the group of mothers of autistic children, but did not differ significantly from the control group of healthy children. The results suggest that there are genotoxic factors in mentally healthy mothers of autistic children, which can determine the pathological process in the foeti via environmental "maternal effect" during gestation.

H3.1 K36M mutation in a congenital-onset soft tissue neoplasm.

PubMed

Kernohan, Kristin D; Grynspan, David; Ramphal, Raveena; Bareke, Eric; Wang, You Chang; Nizalik, Elizabeth; Ragoussis, Jiannis; Jabado, Nada; Boycott, Kym M; Majewski, Jacek; Sawyer, Sarah L

2017-12-01

We describe a patient who presented with a congenital soft tissue lesion initially diagnosed as infantile fibromatosis at 15 days of age. Unusually, the mass demonstrated malignant progression leading to death at 20 months of age. Biological progression to malignancy is not known to occur in fibromatosis, and fibrosarcoma is not known to progress from a benign lesion. Whole-exome sequencing of the tumor identified a driver mutation in histone H3.1 at lysine (K)36. Our findings support the link between oncohistones and infantile soft tissue tumors and provide additional evidence for the oncogenic effects of p.K36M in H3 variants. © 2017 Wiley Periodicals, Inc.

Early Non Invasive Ventilation and Hematological Malignancies

ClinicalTrials.gov

2018-01-03

Hematological Malignancies; Chronic Hypoxemic Respiratory Failure; Blood And Marrow Transplantation; Malignant Neoplasm of Breast; Malignant Neoplasms of Bone and Articular Cartilage; Malignant Neoplasms of Digestive Organs; Malignant Neoplasms of Eye Brain and Other Parts of Central Nervous System; Malignant Neoplasms of Female Genital Organs; Malignant Neoplasms of Ill-defined Secondary and Unspecified Sites; Malignant Neoplasms of Independent (Primary) Multiple Sites; Malignant Neoplasms of Lip Oral Cavity and Pharynx; Malignant Neoplasms of Male Genital Organs; Malignant Neoplasms of Mesothelial and Soft Tissue; Malignant Neoplasms of Respiratory and Intrathoracic Organs; Malignant Neoplasms of Thyroid and Other Endocrine Glands; Malignant Neoplasms of Urinary Tract; Malignant Neoplasms Stated as Primary Lymphoid Haematopoietic

Comparing the effects of Bentonite & Calendula on the improvement of infantile diaper dermatitis: A randomized controlled trial.

PubMed

Mahmoudi, Mansoreh; Adib-Hajbaghery, Mohsen; Mashaiekhi, Mahdi

2015-12-01

Infantile diaper dermatitis is a common, acute inflammatory reaction of the skin around diaper among infants. This study was undertaken to compare the effect of topical application of Bentonite and Calendula creams on the improvement of infantile diaper dermatitis. This double blind randomized controlled trial was undertaken on 100 patients of infantile diaper dermatitis. The 100 participants were randomly assigned into two groups of 50 each, and were prescribed the coded medicine. The mothers were trained to apply the cream and level of improvement was judged by observing the affected area on the first visit and then after three days of receiving treatment. The mean age of infants was 6.45±5.53 months in Calendula group and 7.35±6.28 months in Bentonite group. Overall, 88 per cent of lesions in the Bentonite group started improving in the first six hours while this rate was 54 per cent in Calendula group (P<0.001). The risk ratio for the improvement in the first six hours was 2.99 folds in the Bentonite group. Also, lesions in 86 per cent infants in the Bentonite group and 52 per cent in the Calendula group were completely improved in the first three days after treatment (P<0.001). Our results showed that in comparison with Calendula, Bentonite had faster healing effect and was more effective on the improvement of infantile diaper dermatitis (IRCT ID: IRCT 2012112811593N1).

Comparing the effects of Bentonite & Calendula on the improvement of infantile diaper dermatitis: A randomized controlled trial

PubMed Central

Mahmoudi, Mansoreh; Adib-Hajbaghery, Mohsen; Mashaiekhi, Mahdi

2015-01-01

Background & objectives: Infantile diaper dermatitis is a common, acute inflammatory reaction of the skin around diaper among infants. This study was undertaken to compare the effect of topical application of Bentonite and Calendula creams on the improvement of infantile diaper dermatitis. Methods: This double blind randomized controlled trial was undertaken on 100 patients of infantile diaper dermatitis. The 100 participants were randomly assigned into two groups of 50 each, and were prescribed the coded medicine. The mothers were trained to apply the cream and level of improvement was judged by observing the affected area on the first visit and then after three days of receiving treatment. Results: The mean age of infants was 6.45±5.53 months in Calendula group and 7.35±6.28 months in Bentonite group. Overall, 88 per cent of lesions in the Bentonite group started improving in the first six hours while this rate was 54 per cent in Calendula group (P<0.001). The risk ratio for the improvement in the first six hours was 2.99 folds in the Bentonite group. Also, lesions in 86 per cent infants in the Bentonite group and 52 per cent in the Calendula group were completely improved in the first three days after treatment (P<0.001). Interpretation & conclusions: Our results showed that in comparison with Calendula, Bentonite had faster healing effect and was more effective on the improvement of infantile diaper dermatitis (IRCT ID: IRCT 2012112811593N1). PMID:26831423

Recurrent EML4-NTRK3 fusions in infantile fibrosarcoma and congenital mesoblastic nephroma suggest a revised testing strategy.

PubMed

Church, Alanna J; Calicchio, Monica L; Nardi, Valentina; Skalova, Alena; Pinto, Andre; Dillon, Deborah A; Gomez-Fernandez, Carmen R; Manoj, Namitha; Haimes, Josh D; Stahl, Joshua A; Dela Cruz, Filemon S; Tannenbaum-Dvir, Sarah; Glade-Bender, Julia L; Kung, Andrew L; DuBois, Steven G; Kozakewich, Harry P; Janeway, Katherine A; Perez-Atayde, Antonio R; Harris, Marian H

2018-03-01

Infantile fibrosarcoma and congenital mesoblastic nephroma are tumors of infancy traditionally associated with the ETV6-NTRK3 gene fusion. However, a number of case reports have identified variant fusions in these tumors. In order to assess the frequency of variant NTRK3 fusions, and in particular whether the recently identified EML4-NTRK3 fusion is recurrent, 63 archival cases of infantile fibrosarcoma, congenital mesoblastic nephroma, mammary analog secretory carcinoma and secretory breast carcinoma (tumor types that are known to carry recurrent ETV6-NTRK3 fusions) were tested with NTRK3 break-apart FISH, EML4-NTRK3 dual fusion FISH, and targeted RNA sequencing. The EML4-NTRK3 fusion was identified in two cases of infantile fibrosarcoma (one of which was previously described), and in one case of congenital mesoblastic nephroma, demonstrating that the EML4-NTRK3 fusion is a recurrent genetic event in these related tumors. The growing spectrum of gene fusions associated with infantile fibrosarcoma and congenital mesoblastic nephroma along with the recent availability of targeted therapies directed toward inhibition of NTRK signaling argue for alternate testing strategies beyond ETV6 break-apart FISH. The use of either NTRK3 FISH or next-generation sequencing will expand the number of cases in which an oncogenic fusion is identified and facilitate optimal diagnosis and treatment for patients.

[Malignant tumors of thyroid gland].

PubMed

Uhliarová, B; Bugová, G; Hajtman, A

2015-01-01

The incidence of thyroid cancer has been increasing. The aim of this work was to determine risk factors, diagnostic methods and extent of surgical treatment of malignant goiter. The authors retrospectively analyzed patients who were surgically treated for thyroid disease at the Department of Otorhinolaryngology, Head and Neck Surgery, Comenius University, Jessenius Faculty of Medicine, Teaching Hospital in Martin, Slovakia, from the January 1st, 2006 to December 31st, 2013, for thyroid disease. The incidence, risk factors of malignant thyroid tumors, indication for surgery and its complications were evaluated. A total of 1,620 adult patients were surgically treated for thyroid disease at the Department of ENT, Head and Neck Surgery, CU JMF, UH in Martin, Slovakia, between 2006- 2013. Malignant tumors were identified in 238 patients (15%). Microcarcinoma (incidentally detected malignant tumor 1 cm) occurred in 78 cases (5%). Malignant thyroid tumor was more common in younger patients (p = 0.002). Newly created and larger nodules positively correlated with the occurrence of malignancy (p = 0.003, p = 0.041, resp.). Gender, family history of thyroid disorder, previous radiation therapy, and previous malignancy did not affect the incidence of malignant tumor of thyroid gland. High sensitivity and specificity in the dia-gnosis of malignant thyroid nodule was observed using aspiration cytology (75%, 97%, resp.) and intraoperative histopathological examination (88%, 100%, resp.). Malignant tumor of thyroid gland is more common in younger patients with newly developed nodule. The risk factors of malignancy increase with the size of the thyroid nodule. Aspiration cytology and peroperative histopathology have high sensitivity and specificity in the dia-gnosis of malignant thyroid tumor; therefore, they should be a standard method in the dia-gnosis of nodular goiter. The method of choice in the treatment of thyroid malignancy is total thyroidectomy.

Interventional bronchoscopy in malignant central airway obstruction by extra-pulmonary malignancy.

PubMed

Shin, Beomsu; Chang, Boksoon; Kim, Hojoong; Jeong, Byeong-Ho

2018-03-13

Interventional bronchoscopy is considered an effective treatment option for malignant central airway obstruction (MCAO). However, there are few reports of interventional bronchoscopy in patients with MCAOs due to extra-pulmonary malignancy. Therefore, the objective of this study was to investigate treatment outcomes and prognostic factors for bronchoscopic intervention in patients with MCAO due to extra-pulmonary malignancy. We retrospectively analyzed consecutive 98 patients with MCAO due to extra-pulmonary malignancy who underwent interventional bronchoscopy between 2004 and 2014 at Samsung Medical Center (Seoul, Korea). The most common primary site of malignancy was esophageal cancer (37.9%), followed by thyroid cancer (16.3%) and head & neck cancer (10.2%). Bronchoscopic interventions were usually performed using a combination of mechanical debulking (84.7%), stent insertion (70.4%), and laser cauterization (37.8%). Of 98 patients, 76 (77.6%) patients had MCAO due to progression of malignancy, and 42 (42.9%) patients had exhausted all other anti-cancer treatment at the time of bronchoscopic intervention. Technical success was achieved in 89.9% of patients, and acute complications and procedure-related deaths occurred in 20.4% and 3.1% of patients, respectively. Reduced survival was associated with MCAO due to cancer other than thyroid cancer or lymphoma, mixed lesions, and not receiving adjuvant treatment after bronchoscopic intervention. Bronchoscopic intervention could be a safe and effective procedure for MCAO due to end-stage extra-pulmonary malignancies. In addition, we identified possible prognostic factors for poor survival after intervention, which could guide clinicians select candidates that will benefit from bronchoscopic intervention.

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

PubMed

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

2010-01-01

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.

Lipid peroxidation and antioxidants status in human malignant and non-malignant thyroid tumours.

PubMed

Stanley, J A; Neelamohan, R; Suthagar, E; Vengatesh, G; Jayakumar, J; Chandrasekaran, M; Banu, S K; Aruldhas, M M

2016-06-01

Thyroid epithelial cells produce moderate amounts of reactive oxygen species that are physiologically required for thyroid hormone synthesis. Nevertheless, when they are produced in excessive amounts, they may become toxic. The present study is aimed to compare the lipid peroxidation (LPO), antioxidant enzymes - superoxide dismutase (SOD), catalase (CAT), glutathione peroxidase (GPx) and non-protein thiols (reduced glutathione (GSH)) in human thyroid tissues with malignant and non-malignant disorders. The study used human thyroid tissues and blood samples from 157 women (147 diseased and 10 normal). Thyroid hormones, oxidative stress markers and antioxidants were estimated by standard methods. LPO significantly increased in most of the papillary thyroid carcinoma (PTC: 82.9%) and follicular thyroid adenoma (FTA: 72.9%) tissues, whilst in a majority of nodular goitre (69.2%) and Hashimoto's thyroiditis (HT: 73.7%) thyroid tissues, it remained unaltered. GSH increased in PTC (55.3%), remained unaltered in FTA (97.3%) and all other goiter samples studied. SOD increased in PTC (51.1%) and all other malignant thyroid tissues studied. CAT remained unaltered in PTC (95.7%), FTA (97.3%) and all other non-malignant samples (HT, MNG, TMNG) studied. GPx increased in PTC (63.8%), all other malignant thyroid tissues and remained unaltered in many of the FTA (91.9%) tissues and all other non-malignant samples (HT, MNG, TMNG) studied. In the case of non-malignant thyroid tumours, the oxidant-antioxidant balance was undisturbed, whilst in malignant tumours the balance was altered, and the change in r value observed in the LPO and SOD pairs between normal and PTC tissues and also in many pairs with multi-nodular goitre (MNG)/toxic MNG tissues may be used as a marker to differentiate/detect different malignant/non-malignant thyroid tumours. © The Author(s) 2015.

Particularité de la cystinose infantile chez l'enfant tunisien

PubMed Central

Jellouli, Manel; Turkia, Hadhami Ben; Abidi, Kamel; Hammi, Yosra; Gargah, Tahar

2015-01-01

La cystinose est une maladie rare qui résulte d'un défaut d'expression de la cystinosine transporteur de la cystine du lysosome. La forme infantile est la plus fréquente et la plus sévère. Elle conduit en dehors du traitement à l'insuffisance rénale chronique terminale au cours de la première décade de la vie. Nous rapportons l'expérience tunisienne de la cystinose infantile. Une étude rétrospective sur une période de 25 ans (1990-2014) était menée. Nous avons colligé 8 dossiers de cystinose infantile dans les services de pédiatrie des hôpitaux Charles Nicolle de Tunis et la Rabta de Tunis. Il s'agissait de 5garçons et de 3 filles. L’âge moyen au début des symptômes était de 6,37 mois (2-14 mois). L’âge moyen au moment du diagnostic était de 4 ans (7 mois-6 ans). Les dépôts cornéens de cystine étaient observés chez 7 patients. Sept patients présentaient une hypothyroïdie. La cystéamine était prescrite chez 6 patients. L’âge moyen au moment de la prescription de cystéamine était de 5,12 ans (8 mois- 13 ans). L’âge moyen lors de passage en insuffisance rénale chronique était de 3,4 ans. L’âge moyen lors du passage en insuffisance rénale chronique terminale était de 6,37 ans Actuellement, un patient garde une fonction rénale normale, trois patients sont en insuffisance rénale, deux patients sont décédés et un patient était transplanté. Il faut instaurer dans notre pays les moyens de diagnostic pour traiter tôt la maladie. PMID:26985266

A randomized, controlled trial of oral propranolol in infantile hemangioma.

PubMed

Léauté-Labrèze, Christine; Hoeger, Peter; Mazereeuw-Hautier, Juliette; Guibaud, Laurent; Baselga, Eulalia; Posiunas, Gintas; Phillips, Roderic J; Caceres, Hector; Lopez Gutierrez, Juan Carlos; Ballona, Rosalia; Friedlander, Sheila Fallon; Powell, Julie; Perek, Danuta; Metz, Brandie; Barbarot, Sebastien; Maruani, Annabel; Szalai, Zsuzsanna Zsofia; Krol, Alfons; Boccara, Olivia; Foelster-Holst, Regina; Febrer Bosch, Maria Isabel; Su, John; Buckova, Hana; Torrelo, Antonio; Cambazard, Frederic; Grantzow, Rainer; Wargon, Orli; Wyrzykowski, Dariusz; Roessler, Jochen; Bernabeu-Wittel, Jose; Valencia, Adriana M; Przewratil, Przemyslaw; Glick, Sharon; Pope, Elena; Birchall, Nicholas; Benjamin, Latanya; Mancini, Anthony J; Vabres, Pierre; Souteyrand, Pierre; Frieden, Ilona J; Berul, Charles I; Mehta, Cyrus R; Prey, Sorilla; Boralevi, Franck; Morgan, Caroline C; Heritier, Stephane; Delarue, Alain; Voisard, Jean-Jacques

2015-02-19

Oral propranolol has been used to treat complicated infantile hemangiomas, although data from randomized, controlled trials to inform its use are limited. We performed a multicenter, randomized, double-blind, adaptive, phase 2-3 trial assessing the efficacy and safety of a pediatric-specific oral propranolol solution in infants 1 to 5 months of age with proliferating infantile hemangioma requiring systemic therapy. Infants were randomly assigned to receive placebo or one of four propranolol regimens (1 or 3 mg of propranolol base per kilogram of body weight per day for 3 or 6 months). A preplanned interim analysis was conducted to identify the regimen to study for the final efficacy analysis. The primary end point was success (complete or nearly complete resolution of the target hemangioma) or failure of trial treatment at week 24, as assessed by independent, centralized, blinded evaluations of standardized photographs. Of 460 infants who underwent randomization, 456 received treatment. On the basis of an interim analysis of the first 188 patients who completed 24 weeks of trial treatment, the regimen of 3 mg of propranolol per kilogram per day for 6 months was selected for the final efficacy analysis. The frequency of successful treatment was higher with this regimen than with placebo (60% vs. 4%, P<0.001). A total of 88% of patients who received the selected propranolol regimen showed improvement by week 5, versus 5% of patients who received placebo. A total of 10% of patients in whom treatment with propranolol was successful required systemic retreatment during follow-up. Known adverse events associated with propranolol (hypoglycemia, hypotension, bradycardia, and bronchospasm) occurred infrequently, with no significant difference in frequency between the placebo group and the groups receiving propranolol. This trial showed that propranolol was effective at a dose of 3 mg per kilogram per day for 6 months in the treatment of infantile hemangioma. (Funded by

[Gynecological malignant tumor related multiple primary malignant neoplasms: clinical analysis of 30 cases].

PubMed

Shi, Li; Zhou, Shulin; Jiang, Yi; Wan, Yicong; Ma, Jingjing; Fu, Shilong; Cheng, Wenjun

2014-03-01

To investigate the clinical features of gynecological malignant tumor related multiple primary malignant neoplasms (MPMN). Apply retrospective and comprehensive analysis to the clinical data of 30 patients with gynecological malignant tumor related MPMN. Synchronous MPMN were found in 9 patients. Their average age was 50.2 years old and their median age was 49 years old. The neoplasms were located at ovary, uterus, cervix, breast and intestine. Metachronous MPMN were found in 21 patients. Their average age was 57.7 and their median age was 57 years old. The median interval between the first and the second primary malignant neoplasm was 4.0 years. The neoplasms were located at breast, ovary, uterus, gastrointestinal tract, uterine cervix, lung etc. In 30 cases, 26 of them were treated by surgical operation and further adjunctive treatment of chemotherapy and (or) radiotherapy was conducted as per the neoplasm staging and its pathological results. The rest 4 patients (first primary malignant neoplasms were excised from 3 of them and another one was not treated by surgical operation) received adjunctive treatment of chemotherapy and (or) radiotherapy. Followed ups, which varied from 6 to 60 months, were made to 29 patients and 20 out of the 29 were alive.5-year survival rate of patients with gynecological malignant tumor related MPMN was 47.8%, 2-year survival rate was 73.9%, and 1-year survival rate was 88.6%. Pay more attention to the patients with gynecological malignant tumor related MPMN, examine the high-risk patients with malignant tumor comprehensively, identify whether it is recurrence, metastasis or new growth of malignant neoplasm, and further ensure early diagnosis and proper treatment, avoiding misdiagnosis and missed diagnosis.

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

ERIC Educational Resources Information Center

Bettelheim, Bruno

The nature, origin, and treatment of infantile autism are explored with a consideration of the child's world of encounter and case histories. The beginning of life, called the region of shadows, is mentioned; and the world of the newborn, body language, mutuality, autonomy, the autistic anlage, and the right side of time are examined for the…

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

ERIC Educational Resources Information Center

Liao, Yunxiang; Deprez, Liesbet; Maljevic, Snezana; Pitsch, Julika; Claes, Lieve; Hristova, Dimitrina; Jordanova, Albena; Ala-Mello, Sirpa; Bellan-Koch, Astrid; Blazevic, Dragica; Schubert, Simone; Thomas, Evan A.; Petrou, Steven; Becker, Albert J.; De Jonghe, Peter; Lerche, Holger

2010-01-01

Many idiopathic epilepsy syndromes have a characteristic age dependence, the underlying molecular mechanisms of which are largely unknown. Here we propose a mechanism that can explain that epileptic spells in benign familial neonatal-infantile seizures occur almost exclusively during the first days to months of life. Benign familial…

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

ERIC Educational Resources Information Center

Mahler, Margaret S.

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

Genetics of Severe Early Onset Epilepsies

ClinicalTrials.gov

2017-08-24

Epilepsy; Epileptic Encephalopathy; Ohtahara Syndrome; Infantile Spasms; Dravet Syndrome; Malignant Migrating Partial Epilepsy of Infancy; Early Myoclonic Epileptic Encephalopathy; PCDH19-related Epilepsy and Related Conditions

AB073. Classic infantile-onset Pompe disease: phenotypes and outcomes of 5 Vietnamese patients receiving enzyme replacement therapy

PubMed Central

Nguyen, Khanh Ngoc; Do, Mai Thi Thanh; Can, Ngoc Thi Bich; Hwu, Wuh-Liang; Vu, Dung Chi

2017-01-01

Background Pompe disease (PD) or glycogen storage disease type II is a lysosomal storage disorder, caused by mutations of GAA gene which results in deficiency of acid alpha-glucosidase (GAA) enzyme that involves in metabolism of glycogen in the lysosomes. Its incidence is 1/14,000–1/100,000. PD is divided into three types: classic infantile onset, non-classic infantile onset, and late onset. Early enzyme replacement therapy (ERT) before developing respiratory distress may lead to good outcome. Since 2013, we have identified 16 cases with classic infantile-onset and 5 cases were treated with ERT. Herein, we describe phenotypes and outcomes of five infantile-onset PD patients who received ERT. Methods GAA enzyme assay was done at National Taiwan University Hospital. Results Ages of diagnosis were 12, 38 and 70 days, 5 and 9 months of age. Clinical presentations included macroglossia (5/5), hypertrophic cardiomyopathy (5/5), failure to thrive (5/5), facial weakness and hypotonia (3 patients diagnosed after 70 days of age), respiratory failure (1 patient diagnosed at 9 months of age). All patients had mildly elevated plasma CK (270–380 UI/L) and transaminase (60–260 UI/l). Ages at starting ERT were 28 and 58 days, 3, 6 and 10 months. The time intervals from diagnosis to starting ERT were between 14 days and 1 month. The durations of ERT were 4–22 months. The outcomes were good. All patients had improvement of cardiac functions shown on echocardiography, respiratory status, and motor development. The patient who first received ERT at 10 months of age was reportedly dead at home due to food obstruction at 18 months of age. Current ages of the survivors were 5–24 months. Conclusions Patients with classic infantile-onset PD will have good outcomes if ERT is started early. Newborn screening for this disease is necessary to yield an early diagnosis.

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy

PubMed Central

Shamseldin, Hanan E.; Faqeih, Eissa; Alasmari, Ali; Zaki, Maha S.; Gleeson, Joseph G.; Alkuraya, Fowzan S.

2016-01-01

Brain channelopathies represent a growing class of brain disorders that usually result in paroxysmal disorders, although their role in other neurological phenotypes, including the recently described NALCN-related infantile encephalopathy, is increasingly recognized. In three Saudi Arabian families and one Egyptian family all affected by a remarkably similar phenotype (infantile encephalopathy and largely normal brain MRI) to that of NALCN-related infantile encephalopathy, we identified a locus on 2q34 in which whole-exome sequencing revealed three, including two apparently loss-of-function, recessive mutations in UNC80. UNC80 encodes a large protein that is necessary for the stability and function of NALCN and for bridging NALCN to UNC79 to form a functional complex. Our results expand the clinical relevance of the UNC79-UNC80-NALCN channel complex. PMID:26708753

Pleural malignancies.

PubMed

Vargas, F S; Teixeira, L R

1996-07-01

Carcinoma of the lung, metastatic breast carcinoma, and lymphoma are responsible for approximately 75% of all malignant pleural effusions. The presence of malignant cells in the pleural fluid or in the parietal pleura confirms the diagnosis. Recently, several authors have proposed the combination of morphometric procedures and quantitative analysis of nucleolar organizer regions stained by silver nitrate. Videothoracoscopy is recommended for patients suspected of having a malignant pleural effusion in whom the diagnosis is not established after two cytologic studies of the fluid and one needle biopsy. The standard treatment is the intrapleural instillation of a chemical agent to produce a pleurodesis. The recommended sclerosant is talc, a tetracycline derivative, or Corynebacterium parvum where it is available. When a patient is not an ideal candidate for chemical pleurodesis, the options include symptomatic treatment, serial thoracentesis, implantation of a pleuroperitoneal shunt, and pleurectomy.

Pediatric Salivary Gland Malignancies.

PubMed

Ord, Robert A; Carlson, Eric R

2016-02-01

Pediatric malignant salivary gland tumors are extremely rare. The percentage of malignant tumors is higher than that seen in adults, although the outcomes in terms of survival are better in pediatric patients. The mainstay of treatment is surgical excision with negative margins. This article reviews current concepts in demographics, etiology, management, and outcomes of malignant salivary tumors in children. Copyright © 2016 Elsevier Inc. All rights reserved.

Malignant central airway obstruction

PubMed Central

Mudambi, Lakshmi; Miller, Russell

2017-01-01

This review comprehensively describes recent advances in the management of malignant central airway obstruction (CAO). Malignant CAO can be a dramatic and devastating manifestation of primary lung cancer or metastatic disease. A variety of diagnostic modalities are available to provide valuable information to plan a therapeutic intervention. Clinical heterogeneity in the presentation of malignant CAO provides opportunities to adapt and utilize endoscopic technology and tools in many ways. Mechanical debulking, thermal tools, cryotherapy and airway stents are methods and instruments used to rapidly restore airway patency. Delayed bronchoscopic methods, such as photodynamic therapy (PDT) and brachytherapy can also be utilized in specific non-emergent situations to establish airway patency. Although data regarding the success and complications of therapeutic interventions are retrospective and characterized by clinical and outcome measure variability, the symptoms of malignant CAO can often be successfully palliated. Assessment of risks and benefits of interventions in each individual patient during the decision-making process forms the critical foundation of the management of malignant CAO. PMID:29214067

Infantile colic, regurgitation, and constipation: an early traumatic insult in the development of functional gastrointestinal disorders in children?

PubMed

Indrio, Flavia; Di Mauro, Antonio; Riezzo, Giuseppe; Cavallo, Luciano; Francavilla, Ruggiero

2015-06-01

Functional gastrointestinal disorders (FGIDs) are defined as a variable combination of chronic or recurrent gastrointestinal symptoms not explained by structural or biochemical abnormalities. Infantile colic, gastroesophageal reflux, and constipation are the most common FGIDs that lead to referral to a pediatrician during the first 6 months of life and are often responsible for hospitalization, feeding changes, use of drugs, parental anxiety, and loss of parental working days with relevant social consequences. We performed a retrospective study on patients referred for recurrent abdominal pain from January 2002 trough December 2009 to our Pediatric Gastroenterology Outpatient Unit. The population studied was matched with healthy control without history of recurrent abdominal pain, enrolled among pediatricians practicing primary health care. History of infantile colic, regurgitation, and functional constipation was detected respectively in 26.41, 25.31, and 30.16% of children diagnosed with FGIDs compared to 11.34, 12.85, and 11.76% of healthy children. According to our data, children with a history of gastrointestinal infantile distress have a higher prevalence of FGIDs years later.

[Analysis of the Characteristics of Infantile Small World Neural Network Node Properties Correlated with the Influencing Factors].

PubMed

Qu, Haibo; Lu, Su; Zhang, Wenjing; Xiao, Yuan; Ning, Gang; Sun, Huaiqiang

2016-10-01

We applied resting-state functional magnetic resonance imaging(rfMRI)combined with graph theory to analyze 90 regions of the infantile small world neural network of the whole brain.We tried to get the following two points clear:1 whether the parameters of the node property of the infantile small world neural network are correlated with the level of infantile intelligence development;2 whether the parameters of the infantile small world neural network are correlated with the children’s baseline parameters,i.e.,the demographic parameters such as gender,age,parents’ education level,etc.Twelve cases of healthy infants were included in the investigation(9males and 3females with the average age of 33.42±8.42 months.)We then evaluated the level of infantile intelligence of all the cases and graded by Gesell Development Scale Test.We used a Siemens 3.0T Trio imaging system to perform resting-state(rs)EPI scans,and collected the BOLD functional Magnetic Resonance Imaging(fMRI)data.We performed the data processing with Statistical Parametric Mapping 5(SPM5)based on Matlab environment.Furthermore,we got the attributes of the whole brain small world and node attributes of 90 encephalic regions of templates of Anatomatic Automatic Labeling(ALL).At last,we carried out correlation study between the above-mentioned attitudes,intelligence scale parameters and demographic data.The results showed that many node attributes of small world neural network were closely correlated with intelligence scale parameters.Betweeness was mainly centered in thalamus,superior frontal gyrus,and occipital lobe(negative correlation).The r value of superior occipital gyrus associated with the individual and social intelligent scale was-0.729(P=0.007);degree was mainly centered in amygdaloid nucleus,superior frontal gyrus,and inferior parietal gyrus(positive correlation).The r value of inferior parietal gyrus associated with the gross motor intelligent scale was 0.725(P=0.008);efficiency was mainly

Osteopetrosis

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An Algorithmic Approach to the Management of Infantile Digital Fibromatosis: Review of Literature and a Case Report.

PubMed

Eypper, Elizabeth H; Lee, Johnson C; Tarasen, Ashley J; Weinberg, Maxene H; Adetayo, Oluwaseun A

2018-01-01

Objective: Infantile digital fibromatosis is a rare benign childhood tumor, infrequently cited in the literature. Hallmarks include nodular growths exclusive to fingers and toes and the presence of eosinophilic cytoplasmic inclusions on histology. This article aims to exemplify diagnoses of infantile digital fibromatosis and possible treatment options. Methods: A computerized English literature search was performed in the PubMed/MEDLINE database using MeSH headings "infantile," "juvenile," "digital," and "fibromatosis." Twenty electronic publications were selected and their clinical and histological data recorded and used to compile a treatment algorithm. Results: A 9-month-old male child was referred for a persistent, symptomatic nodule on the third left toe. A direct excision with Brunner-type incisions was performed under general anesthesia. The procedure was successful without complications. The patient has no recurrence at 2 years postsurgery and continues to be followed. Histological examination revealed a proliferation of bland, uniformly plump spindle cells with elongated nuclei and small central nucleoli without paranuclear inclusions consistent with fibromatosis. Conclusions: Asymptomatic nodules should be observed for spontaneous regression or treated with nonsurgical techniques such as chemotherapeutic or steroid injection. Surgical removal should be reserved for cases with structural or functional compromise.

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

ERIC Educational Resources Information Center

Sanua, Victor D.

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

A Hydrogel-Endothelial Cell implant Mimics Infantile Hemangioma: Modulation by Survivin and the Hippo pathway*

PubMed Central

Tsuneki, Masayuki; Hardee, Steven; Michaud, Michael; Morotti, Raffaella; Lavik, Erin; Madri, Joseph A.

2015-01-01

Microvascular endothelial cells cultured in three-dimensional hydrogel scaffolds form a network of microvessel structures when implanted subcutaneously in mice, inosculate with host vessels and over time remodel into large ectatic vascular structures resembling hemangiomas. When compared to infantile hemaniomas similarities were noted including a temporal progression from a morphological appearance of a proliferative phase to the appearance of an involuted phase mimicking the proliferative and involutional phases of infantile hemangioma. Consistent with the progression of a proliferative phase to an involuted phase, both the murine implants and human biopsy tissue exhibit reduced expression of Ajuba, YAP and Survivin labeling as they progressed over time. Significant numbers of CD45+, CD11b+, Mac3+ mononuclear cells were found at the 2 week time point in our implant model which correlated with the presence of CD45+, CD68+ mononuclear cells observed in biopsies of human proliferative phase hemangiomas. At the 4 week time point in our implant model only small numbers of CD45+ cells were detected, which again correlated with our findings of significantly diminished CD45+, CD68+ mononuclear cells in human involutional phase hemangiomas. The demonstration of mononuclear cell infiltration transiently in the proliferative phase of these lesions suggests that the vascular proliferation and/or regression may be driven in part by an immune response. Gross and microscopic morphological appearances of human proliferative and involutional hemangiomas and our implant model correlate well with each other as do the expression levels of Hippo pathway components (Ajuba and YAP) and Survivin and correlate with proliferation in these entities. Inhibitors of Survivin and Ajuba (which we have demonstrated to inhibit proliferation and increase apoptosis in murine hemangioma cell tissue culture) may have potential as other beneficial treatments for proliferating infantile hemangiomas

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

PubMed Central

Stuart, G; Wren, C; Bain, H

1990-01-01

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

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

PubMed Central

Götz, Alexandra; Tyynismaa, Henna; Euro, Liliya; Ellonen, Pekka; Hyötyläinen, Tuulia; Ojala, Tiina; Hämäläinen, Riikka H.; Tommiska, Johanna; Raivio, Taneli; Oresic, Matej; Karikoski, Riitta; Tammela, Outi; Simola, Kalle O.J.; Paetau, Anders; Tyni, Tiina; Suomalainen, Anu

2011-01-01

Infantile cardiomyopathies are devastating fatal disorders of the neonatal period or the first year of life. Mitochondrial dysfunction is a common cause of this group of diseases, but the underlying gene defects have been characterized in only a minority of cases, because tissue specificity of the manifestation hampers functional cloning and the heterogeneity of causative factors hinders collection of informative family materials. We sequenced the exome of a patient who died at the age of 10 months of hypertrophic mitochondrial cardiomyopathy with combined cardiac respiratory chain complex I and IV deficiency. Rigorous data analysis allowed us to identify a homozygous missense mutation in AARS2, which we showed to encode the mitochondrial alanyl-tRNA synthetase (mtAlaRS). Two siblings from another family, both of whom died perinatally of hypertrophic cardiomyopathy, had the same mutation, compound heterozygous with another missense mutation. Protein structure modeling of mtAlaRS suggested that one of the mutations affected a unique tRNA recognition site in the editing domain, leading to incorrect tRNA aminoacylation, whereas the second mutation severely disturbed the catalytic function, preventing tRNA aminoacylation. We show here that mutations in AARS2 cause perinatal or infantile cardiomyopathy with near-total combined mitochondrial respiratory chain deficiency in the heart. Our results indicate that exome sequencing is a powerful tool for identifying mutations in single patients and allows recognition of the genetic background in single-gene disorders of variable clinical manifestation and tissue-specific disease. Furthermore, we show that mitochondrial disorders extend to prenatal life and are an important cause of early infantile cardiac failure. PMID:21549344

Diffusion, Perfusion, and Histopathologic Characteristics of Desmoplastic Infantile Ganglioglioma.

PubMed

Ho, Chang Y; Gener, Melissa; Bonnin, Jose; Kralik, Stephen F

2016-07-01

We present a case series of a rare tumor, the desmoplastic infantile ganglioglioma (DIG) with MRI diffusion and perfusion imaging quantification as well as histopathologic characterization. Four cases with pathologically-proven DIG had diffusion weighted imaging (DWI) and two of the four had dynamic susceptibility contrast imaging. All four tumors demonstrate DWI findings compatible with low-grade pediatric tumors. For the two cases with perfusion imaging, a higher relative cerebral blood volume was associated with higher proliferation index on histopathology for one of the cases. Our results are discussed in conjunction with a literature review.

Malignant melanoma of the nose.

PubMed

Souza, S D; Sujata, G

2001-04-01

Invasive tumors containing abnormal melanocvtes are termed ax malignant melanomas. Primary malignant melanomas of the nasal and paranasal cavities are extremely rare. A 65 years old female presented with bleeding from the nose and a gradually increasing mass in the left nostril. Histopathological examination of the specimen showed "poorly differentiated carcinoma" like features. But S-100 staining proved it to be a malignant melanoma. This case is reported here for its rarity. The literature on malignant melanoma is reviewed and the aetiology pathology, diagnostic and therapeutic problems are also discussed.

Melatonin Attenuates Histopathological Changes in the Hippocampus of Infantile Rats with Kaolin-Induced Hydrocephalus.

PubMed

Turgut, Mehmet; Baka, Meral; Uyanıkgil, Yiğit

2018-05-23

Hydrocephalus is defined as an incapacitating neurological disorder characterized by ventricular enlargement in children, but the effects of melatonin on this hydrocephalus have not yet been fully elucidated. In the present experiment, we attempted to investigate the effects of exogenous melatonin administration on hydrocephalus-induced hippocampal changes in infantile rats. In this study, we randomly divided 45 Swiss albino rats aged 2 weeks into 3 groups: group I, the control group received a sham injection with needle insertion only; groups II and III were given kaolin injections before treatment - group II, the hydrocephalus group, was treated with an isotonic NaCl solution, and group III, the hydrocephalus plus melatonin group, was treated with 0.5 mg/100 g body weight of exogenous melatonin. Both immunohistochemical and histological analyses were performed after hydrocephalus induction and melatonin administration. Immunohistochemical staining consisted anti-glial fibrillary acidic protein staining. The TUNEL technique was used for defining quantitate apoptosis. Melatonin administration significantly attenuated chronic hydrocephalus-induced histopathological changes in the hippocampal subregions of infantile rats. Compared to hydrocephalic rats treated with saline solution, melatonin significantly decreased the number of apoptotic cells and pyknotic index values of each hippocampal subregion after the kaolin-induced hydrocephalus (p < 0.001). The present results demonstrate that the chronic hydrocephalus-induced histopathological changes in the hippocampus were partially reversible with melatonin treatment, suggesting its neuroprotective effects in infantile rats. However, these findings need to be confirmed by further experimental studies and clinical trials. © 2018 S. Karger AG, Basel.

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.

PubMed

Shamseldin, Hanan E; Faqeih, Eissa; Alasmari, Ali; Zaki, Maha S; Gleeson, Joseph G; Alkuraya, Fowzan S

2016-01-07

Brain channelopathies represent a growing class of brain disorders that usually result in paroxysmal disorders, although their role in other neurological phenotypes, including the recently described NALCN-related infantile encephalopathy, is increasingly recognized. In three Saudi Arabian families and one Egyptian family all affected by a remarkably similar phenotype (infantile encephalopathy and largely normal brain MRI) to that of NALCN-related infantile encephalopathy, we identified a locus on 2q34 in which whole-exome sequencing revealed three, including two apparently loss-of-function, recessive mutations in UNC80. UNC80 encodes a large protein that is necessary for the stability and function of NALCN and for bridging NALCN to UNC79 to form a functional complex. Our results expand the clinical relevance of the UNC79-UNC80-NALCN channel complex. Copyright © 2016 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Effectiveness of treatments for infantile colic: systematic review.

PubMed

Lucassen, P L; Assendelft, W J; Gubbels, J W; van Eijk, J T; van Geldrop, W J; Neven, A K

1998-05-23

To evaluate the effectiveness of diets, drug treatment, and behavioural interventions on infantile colic in trials with crying or the presence of colic as the primary outcome measure. Controlled clinical trials identified by a highly sensitive search strategy in Medline (1966-96), Embase (1986-95), and the Cochrane Controlled Trials Register, in combination with reference checking for further relevant publications. Keywords were crying and colic. Two independent assessors selected controlled trials with interventions lasting at least 3 days that included infants younger than 6 months who cried excessively. Methodological quality was assessed by two assessors independently with a quality assessment scale (range 0-5). Effect sizes were calculated as percentage success. Effect sizes of trials using identical interventions were pooled using a random effects model. 27 controlled trials were identified. Elimination of cows' milk protein was effective when substituted by hypoallergenic formula milks (effect size 0.22 (95% confidence interval 0.09 to 0.34)). The effectiveness of substitution by soy formula milks was unclear when only trials of good methodological quality were considered. The benefit of eliminating cows' milk protein was not restricted to highly selected populations. Dicyclomine was effective (effect size 0.46 (0.33 to 0.60)), but serious side effects have been reported. The advice to reduce stimulation was beneficial (effect size 0.48 (0.23 to 0.74)), whereas the advice to increase carrying and holding seemed not to reduce crying. No benefit was shown for simethicone. Uncertainty remained about the effectiveness of low lactose formula milks. Infantile colic should preferably be treated by advising carers to reduce stimulation and with a one week trial of a hypoallergenic formula milk.

Catatonic Symptoms Appearing before Autonomic Symptoms Help Distinguish Neuroleptic Malignant Syndrome from Malignant Catatonia.

PubMed

Komatsu, Takayuki; Nomura, Tomohisa; Takami, Hiroki; Sakamoto, So; Mizuno, Keiko; Sekii, Hajime; Hatta, Kotaro; Sugita, Manabu

A 42-year-old Japanese woman with a 10-year history of schizophrenia was admitted due to a disturbance in consciousness that met the diagnostic criteria for both neuroleptic malignant syndrome (NMS) and malignant catatonia. Despite systemic supportive treatments, the catatonic symptoms preceding autonomic symptoms persisted. The symptoms improved after lorazepam administration, leading to a retrospective diagnosis of malignant catatonia. Catatonia is thought to be caused by a dysfunction of ganmma-aminobutyric acid type A receptors in the cortico-cortical networks of the frontal lobes, which causes hypoactivity of the dopaminergic transmission in the subcortical areas. Identifying the catatonic symptoms preceding autonomic symptoms could aid in distinguishing malignant catatonia from NMS.

Reversible infantile mitochondrial diseases.

PubMed

Boczonadi, Veronika; Bansagi, Boglarka; Horvath, Rita

2015-05-01

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

Pembrolizumab in Treating Patients With Malignant Mesothelioma

ClinicalTrials.gov

2018-03-01

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

Malignant Mesothelioma—Patient Version

Cancer.gov

Malignant mesothelioma is a cancer of the thin tissue (mesothelium) that lines the lung, chest wall, and abdomen. The major risk factor for mesothelioma is asbestos exposure. Start here to find information on malignant mesothelioma treatment.

Infantile Autism. A Clinical and Phenomenological-Anthropological Investigation Taking Language as the Guide.

ERIC Educational Resources Information Center

Bosch, Gerhard

A clinical and phenomenological-anthropological investigation taking language as the guide, the study of infantile autism concentrates upon an analysis of the idiosyncratic language of autistic children and of what is revealed by the way they use it. Following the presentation of very detailed case histories of five of the autistic children…

Abnormal Head Position in Infantile Nystagmus Syndrome

PubMed Central

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

2011-01-01

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

Histopathology of malignant salivary gland tumours.

PubMed

Seifert, G

1992-07-01

This report is based upon the Salivary Gland Register in Hamburg and on the second revised edition of the WHO Histological Typing of Salivary Gland Tumours. The group of malignant salivary gland tumours contains carcinomas, malignant non-epithelial tumours, malignant lymphomas and secondary tumours. The various carcinomas are classified in a continuous separate listing because the different types are distinguished not only by histopathology, but also by differences in prognosis and treatment. The term "tumour" is replaced by "carcinoma" in two entities: acinic cell carcinoma and mucoepidermoid carcinoma. New entities are: polymorphous low-grade adenocarcinoma, basal cell adenocarcinoma, salivary duct carcinoma and malignant myoepithelioma. Carcinoma in pleomorphic adenoma can be distinguished as non-invasive and invasive carcinoma, and carcinosarcoma. Malignant non-epithelial tumours are mostly malignant fibrous histiocytoma, malignant schwannoma and rhabdomyosarcoma. The large majority of malignant lymphomas are non-Hodgkin-lymphomas with high differentiation. Many lymphomas are associated with chronic immunosialadenitis (Sjögren's syndrome). Secondary tumours are mostly metastases from primary squamous cell carcinomas or from melanomas of the skin (head and neck area). Haematogeneous metastases are very rare (mainly from lung, kidney or breast).

TAK228 With Carbo and Taxol in Advanced Malignancies

ClinicalTrials.gov

2018-03-12

Malignant Neoplasm of Breast; Malignant Neoplasms of Bone and Articular Cartilage; Malignant Neoplasms of Digestive Organs; Malignant Neoplasms of Eye Brain and Other Parts of Central Nervous System; Malignant Neoplasms of Female Genital Organs; Malignant Neoplasms of Ill-defined Secondary and Unspecified Sites; Malignant Neoplasms of Independent (Primary) Multiple Sites; Malignant Neoplasms of Lip Oral Cavity and Pharynx; Malignant Neoplasms of Male Genital Organs; Malignant Neoplasms of Mesothelial and Soft Tissue; Malignant Neoplasms of Respiratory and Intrathoracic Organs; Malignant Neoplasms of Thyroid and Other Endocrine Glands; Malignant Neoplasms of Urinary Tract; Malignant Neoplasms Stated as Primary Lymphoid Haematopoietic

Infantile eczema at one month of age is associated with cord blood eosinophilia and subsequent development of atopic dermatitis and wheezing illness until two years of age.

PubMed

Matsumoto, Kenji; Shimanouchi, Yasuhiro; Kawakubo, Keiichi; Oishi, Naobumi; Wakiguchi, Hiroshi; Futamura, Kyoko; Saito, Hirohisa

2005-01-01

Physiological and pathological skin eruptions are commonly encountered in neonates in our clinical practice. However, the types of skin eruptions that are associated with the subsequent development of atopic dermatitis and the mechanisms of these associations remain uncertain. A total of 105 newborn babies with normal delivery were enrolled in this prospective cohort study. The cord blood eosinophil count was measured and the neonates were examined at 1 month of age and followed until 8 years of age. At 1 month of age, infantile eczema, seborrheic dermatitis, intertrigo and diaper dermatitis were diagnosed in a total of 29, 7, 14 and 24 neonates, respectively. No association was found among the prevalences of these eruptions. Neonates with infantile eczema had a significantly higher number and ratio of eosinophils in the cord blood (eosinophil count: 670.8 +/- 67.8 vs. 349.0 +/- 30.3/microl, p < 0.0001; eosinophil ratio: 5.12 +/- 0.53 vs. 2.61 +/- 0.22%, p < 0.0001, for the presence and the absence of infantile eczema, respectively). In contrast, no such tendency was found for any other skin eruptions. In neonates with infantile eczema at 1 month of age, the diagnosis of atopic dermatitis had been made significantly earlier and the prevalence of wheezing illness was significantly higher than in those without infantile eczema until 2 years of age. Infantile eczema, but not other skin eruptions, precedes the development of atopic dermatitis and wheezing illness during early infancy, presumably because of the activation of eosinophils before birth. Copyright 2005 S. Karger AG, Basel.

Catatonic Symptoms Appearing before Autonomic Symptoms Help Distinguish Neuroleptic Malignant Syndrome from Malignant Catatonia

PubMed Central

Komatsu, Takayuki; Nomura, Tomohisa; Takami, Hiroki; Sakamoto, So; Mizuno, Keiko; Sekii, Hajime; Hatta, Kotaro; Sugita, Manabu

2016-01-01

A 42-year-old Japanese woman with a 10-year history of schizophrenia was admitted due to a disturbance in consciousness that met the diagnostic criteria for both neuroleptic malignant syndrome (NMS) and malignant catatonia. Despite systemic supportive treatments, the catatonic symptoms preceding autonomic symptoms persisted. The symptoms improved after lorazepam administration, leading to a retrospective diagnosis of malignant catatonia. Catatonia is thought to be caused by a dysfunction of ganmma-aminobutyric acid type A receptors in the cortico-cortical networks of the frontal lobes, which causes hypoactivity of the dopaminergic transmission in the subcortical areas. Identifying the catatonic symptoms preceding autonomic symptoms could aid in distinguishing malignant catatonia from NMS. PMID:27725556

P16.29 Malignant craniopharyngioma

PubMed Central

Unal, E.; Kilic, K.; Ozdemir, N.; Gunver, F.; Isik, S.; Can, S.

2017-01-01

Abstract Introduction: Malignant transformation of craniopharyngioma has rarely been described. In this article, we report a case of 28th malignant craniopharyngioma ever mentioned in English literature. Materials and Methods: We performed a PUBMED, HUBMED, BAU Library Database and Ovid search on malignant craniopharyngiomas and identified 27 reported cases. CASE DESCRIPTION: 44 years old female patient was diagnosed with craniopharyngioma two years ago and underwent surgical resection of a typical craniopharyngioma, the histopathological result was adamantinomatous craniopharyngioma of Grade I. There was no malignancy. One year ago cavernous sinus invasion has been detected and gamma knife irradiation has been made. At admission she was blind in the right eye for the last six months and the vision was diminished in the left eye for a month. The MRI showed that nasal cavity was full of tumor, that the clivus was almost completely destructed and that orbita and maxillary sinus were also invaded. Firstly the ENT surgeons debulked the tumor via transmaxillary route and then the transcranial approach allowed only a subtotal removal due to a profuse bleeding. The histopatological examination showed malignant tumoral infiltration rich in cells with many mitoses. The patient died two years later. CONCLUSION: The relevant literature of malignant craniopharyngioma is reviewed and discussed. The surgeon must be aware that total removal of a malignant craniopharyngioma can be hazardous because of intractable bleedings occurring during surgery.

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

PubMed Central

2014-01-01

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

CD34-positive infantile myofibromatosis: Case report and review of hemangiopericytoma-like pattern tumors.

PubMed

Kiyohara, Takahiro; Maruta, Naoki; Iino, Shiro; Ido, Hideki; Tokuriki, Atsushi; Hasegawa, Minoru

2016-09-01

We describe a case of CD34-positive infantile myofibromatosis with hemangiopericytoma-like pattern. A 2-day-old Japanese boy presented with multiple hemispherical nodules on the extremities and back. There was a biphasic histological growth in the dermis, accompanied by a hemangiopericytoma-like pattern with antler-like branching vessels. Tumor cells were oval to spindle-shaped myoid cells with bland appearance. Immunohistochemically, vimentin, calponin and CD34 were positive, while α-smooth muscle actin, h-caldesmon, HHF35 and desmin were negative. Although CD34 was positive, the present case could be diagnosed as infantile myofibromatosis. Myopericytoma, myofibroma/myofibromatosis, glomus tumor, glomangiopericytoma and angioleiomyoma share a continuous spectrum of benign hemangiopericytoma-like pattern tumors. Myofibroma/myofibromatosis is nearly included in myopericytoma among pericytic (perivascular) tumors, and could be positive for CD34. Several immunohistochemical panels of smooth muscle markers are needed for the diagnosis of pericytic (perivascular) tumors. © 2016 Japanese Dermatological Association.

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

ERIC Educational Resources Information Center

Thomas, Shery; Proudlock, Frank A.; Sarvananthan, Nagini; Roberts, Eryl O.; Awan, Musarat; McLean, Rebecca; Surendran, Mylvaganam; Kumar, A. S. Anil; Farooq, Shegufta J.; Degg, Chris; Gale, Richard P.; Reinecke, Robert D.; Woodruff, Geoffrey; Langmann, Andrea; Lindner, Susanne; Jain, Sunila; Tarpey, Patrick; Raymond, F. Lucy; Gottlob, Irene

2008-01-01

Idiopathic infantile nystagmus (IIN) consists of involuntary oscillations of the eyes. The familial form is most commonly X-linked. We recently found mutations in a novel gene "FRMD7" (Xq26.2), which provided an opportunity to investigate a genetically defined and homogeneous group of patients with nystagmus. We compared clinical features and eye…

Age-Specific Dynamics of Corpus Callosum Development in Children and its Peculiarities in Infantile Cerebral Palsy.

PubMed

Krasnoshchekova, E I; Zykin, P A; Tkachenko, L A; Aleksandrov, T A; Sereda, V M; Yalfimov, A N

2016-10-01

The age dynamics of corpus callosum development was studied on magnetic resonance images of the brain in children aged 2-11 years without neurological abnormalities and with infantile cerebral palsy. The areas of the total corpus callosum and its segments are compared in the midsagittal images. Analysis is carried out with the use of an original formula: proportion of areas of the anterior (genu, CC2; and anterior part, CC3) and posterior (isthmus, CC6 and splenium, CC7) segments: kCC=(CC2+CC3)×CC6/CC7. The results characterize age-specific dynamics of the corpus callosum development and can be used for differentiation, with high confidence, of the brain of children without neurological abnormalities from the brain patients with infantile cerebral palsy.

Pathophysiology of infantile pulmonary arterial hypertension induced by monocrotaline.

PubMed

Dias-Neto, Marina; Luísa-Neves, Ana; Pinho, Sónia; Gonçalves, Nádia; Mendes, Maria; Eloy, Catarina; Lopes, José M; Gonçalves, Daniel; Ferreira-Pinto, Manuel; Leite-Moreira, Adelino F; Henriques-Coelho, Tiago

2015-06-01

Pediatric pulmonary arterial hypertension (PAH) presents certain specific features. In this specific age group, experimental models to study the pathophysiology of PAH are lacking. To characterize hemodynamic, morphometric, and histological progression as well as the expression of neurohumoral factors and regulators of cardiac transcription in an infantile model of PAH induced by monocrotaline (MCT), eight-day-old Wistar rats were randomly injected with MCT (30 mg/kg, sc, n = 95) or equal volume of saline solution (n = 92). Animals were instrumented for biventricular hemodynamic recording 7, 14, and 21 days after MCT, whereas samples were collected at 1, 3, 7, 14, and 21 days after MCT. Different time point postinjections were defined for further analysis. Hearts and lungs were collected for morphometric characterization, assessment of right- and left-ventricle (RV and LV) cardiomyocyte diameter and collagen type-I and type-III ratio, RV collagen volume fraction, and pulmonary vessels wall thickness. mRNA quantification was undertaken for brain natriuretic peptide (BNP), endothelin-1 (ET-1), and for cardiac transcription regulators (HOP and Islet1). Animals treated with MCT at the 8th day of life presented RV hypertrophy since day 14 after MCT injection. There were no differences on the RV collagen volume fraction or collagen type-I and type-III ratio. Pulmonary vascular remodelling and PAH were present on day 21, which were accompanied by an increased expression of BNP, ET-1, HOP, and Islet1. The infantile model of MCT-induced PAH can be useful for the study of its pathophysiology and to test new therapeutic targets in pediatric age group.

Changing presentation of cutaneous malignant melanoma.

PubMed

Klit, Anders; Lassen, Cecilie Brandt; Olsen, Caroline Holkmann; Lock-Andersen, Jørgen

2015-10-01

The incidence of cutaneous malignant melanoma is rapidly increasing in Denmark like in other Northern and Western European countries. Our objective was to investigate the characteristics of current patients suffering from cutaneous malignant melanoma. We evaluated patient and tumour characteristics in a cross-sectional study based on data from the Danish Melanoma Register. We included all patients diagnosed with cutaneous malignant melanoma in Healthcare Region Zealand in 2012 and 2013. We identified 520 patients with invasive cutaneous malignant melanoma. More females than males suffered from cutaneous malignant melanoma. Furthermore, females were younger than males, and the anatomical distribution of malignant melanoma varied between the genders. Outcome of sentinel lymph node biopsy was associated with tumour thickness. When comparing findings in our study with earlier Danish studies, we see a trend towards an increase in age at diagnosis. Furthermore, tumour thickness is decreasing and the topical distribution of cutaneous malignant melanoma in females changes towards a male pattern. none. The study has been approved by the Danish National Data Protection Agency.

Two novel mutations of CLCN7 gene in Chinese families with autosomal dominant osteopetrosis (type II).

PubMed

Zheng, Hui; Shao, Chong; Zheng, Yan; He, Jin-Wei; Fu, Wen-Zhen; Wang, Chun; Zhang, Zhen-Lin

2016-07-01

Autosomal dominant osteopetrosis type II (ADO-II) is a heritable bone disorder characterized by osteosclerosis, predominantly involving the spine (vertebral end-plate thickening, or rugger-jersey spine), the pelvis ("bone-within-bone" structures) and the skull base. Chloride channel 7 (CLCN7) has been reported to be the causative gene. In this study, we aimed to identify the pathogenic mutation in four Chinese families with ADO-II. All 25 exons of the CLCN7 gene, including the exon-intron boundaries, were amplified and sequenced directly in four probands from the Chinese families with ADO-II. The mutation site was then identified in other family members and 250 healthy controls. In family 1, a known missense mutation c.296A>G in exon 4 of CLCN7 was identified in the proband, resulting in a tyrosine (UAU) to cysteine (UGU) substitution at p.99 (Y99C); the mutation was also identified in his affected father. In family 2, a novel missense mutation c.865G>C in exon 10 was identified in the proband, resulting in a valine (GUC) to leucine (CUC) substitution at p.289 (V289L); the mutation was also identified in her healthy mother and sister. In family 3, a novel missense mutation c.1625C>T in exon 17 of CLCN7 was identified in the proband, resulting in an alanine (GCG) to valine (GUG) substitution at p.542 (A542V); the mutation was also identified in her father. In family 4, a hot spot, R767W (c.2299C>T, CGG>TGG), in exon 24 was found in the proband which once again proved the susceptibility of the site or the similar genetic background in different races. Moreover, two novel mutations, V289L and A542V, occurred at a highly conserved position, found by a comparison of the protein sequences from eight vertebrates, and were predicted to have a pathogenic effect by PolyPhen-2 software, which showed "probably damaging" with a score of approximately 1. These mutation sites were not identified in 250 healthy controls. Our present findings suggest that the novel missense

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

PubMed Central

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

2010-01-01

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

Diffusion, Perfusion, and Histopathologic Characteristics of Desmoplastic Infantile Ganglioglioma

PubMed Central

Ho, Chang Y; Gener, Melissa; Bonnin, Jose; Kralik, Stephen F

2016-01-01

We present a case series of a rare tumor, the desmoplastic infantile ganglioglioma (DIG) with MRI diffusion and perfusion imaging quantification as well as histopathologic characterization. Four cases with pathologically-proven DIG had diffusion weighted imaging (DWI) and two of the four had dynamic susceptibility contrast imaging. All four tumors demonstrate DWI findings compatible with low-grade pediatric tumors. For the two cases with perfusion imaging, a higher relative cerebral blood volume was associated with higher proliferation index on histopathology for one of the cases. Our results are discussed in conjunction with a literature review. PMID:27761184

Congenital infantile myofibroma causing intrauterine death in a twin

PubMed Central

Aye, Christina Yi Ling; Gould, Steve; Akinsola, S Adeyemi

2011-01-01

While infantile myofibromatosis is the most common mesenchymal tumour of infancy, only around 300 cases have been reported. The authors report a 33-year-old para 1 with an uncomplicated, dichorionic diamniotic twin pregnancy who was diagnosed with an intrauterine death of one twin at 36+5 weeks gestation. At caesarean section, a macerated male stillborn weighing 2.72 kg was delivered. Postmortem examination revealed a pedunculated lesion attached to the left shoulder and underlying muscle consistent with a congenital myofibroma. The cause of death was postulated to be haemorrhage from the tumour surface causing fetal anaemia. PMID:22674951

Meta-analysis of the predictive value of DNA aneuploidy in malignant transformation of oral potentially malignant disorders.

PubMed

Alaizari, Nader A; Sperandio, Marcelo; Odell, Edward W; Peruzzo, Daiane; Al-Maweri, Sadeq A

2018-02-01

DNA aneuploidy is an imbalance of chromosomal DNA content that has been highlighted as a predictor of biological behavior and risk of malignant transformation. To date, DNA aneuploidy in oral potentially malignant diseases (OPMD) has been shown to correlate strongly with severe dysplasia and high-risk lesions that appeared non-dysplastic can be identified by ploidy analysis. Nevertheless, the prognostic value of DNA aneuploidy in predicting malignant transformation of OPMD remains to be validated. The aim of this meta-analysis was to assess the role of DNA aneuploidy in predicting malignant transformation in OPMD. The questions addressed were (i) Is DNA aneuploidy a useful marker to predict malignant transformation in OPMD? (ii) Is DNA diploidy a useful negative marker of malignant transformation in OPMD? These questions were addressed using the PECO method. Five studies assessing aneuploidy as a risk marker of malignant change were pooled into the meta-analysis. Aneuploidy was found to be associated with a 3.12-fold increased risk to progress into cancer (RR=3.12, 95% CI 1.86-5.24). Based on the five studies meta-analyzed, "no malignant progression" was more likely to occur in DNA diploid OPMD by 82% when compared to aneuploidy (RR=0.18, 95% CI 0.08-0.41). In conclusion, aneuploidy is a useful marker of malignant transformation in OPMD, although a diploid result should be interpreted with caution. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Safety Profile during Initiation of Propranolol for Treatment of Infantile Hemangiomas in an Ambulatory Day-Care Hospitalization Setting.

PubMed

Fogel, Itay; Ollech, Ayelet; Zvulunov, Alex; Valdman-Greenshpon, Yulia; Atar-Sagie, Vered; Friedland, Rivka; Lapidoth, Moshe; Ben-Amitai, Dan

2018-03-24

Propranolol is the mainstay of treatment for infantile hemangioma. Despite its good safety profile, it is not risk-free. Guidelines for propranolol initiation and monitoring have been suggested, but protocols vary among practitioners. This study sought to assess the prevalence of adverse events and clinically significant fluctuations in hemodynamic parameters in children with infantile hemangioma during initiation of treatment with propranolol in a day-hospitalization setting. Children with infantile hemangioma treated with propranolol in a day-hospitalization department of a tertiary pediatric medical center in 2008-2014 were identified retrospectively. The pretreatment evaluation included clinical examination by a pediatric dermatologist and electrocardiography, echocardiography, and clinical examination by a pediatric cardiologist. The propranolol dosage was escalated from 0.5mg/kg/day to 2mg/kg/day, divided into 3 doses/day, over 3 days. Heart rate, blood pressure, and blood glucose level were measured before treatment onset and 60 min after the first two doses each day. The third dose was given at home. The cohort included 220 children aged 1 month to 5 years. No severe treatment-related adverse events were documented; 27 patients had minor side effects. There was a significant decrease in heart rate each day after the first two doses (p<0.001), and in systolic blood pressure, on day 2 (1mg/kg/day) after the first dose (p=0.01). Blood glucose level remained stable. The hemodynamic changes were clinically asymptomatic and did not require intervention. Propranolol treatment (2mg/kg/day in three doses) for infantile hemangioma is well tolerated and safe and may be administered and monitored in an ambulatory setting. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

Second primary malignancies after treatment for malignant lymphoma

PubMed Central

Okines, A; Thomson, C S; Radstone, C R; Horsman, J M; Hancock, B W

2005-01-01

To determine the incidence and possible causes of second primary malignancies after treatment for Hodgkin's and Non-Hodgkin's lymphoma (HL and NHL). A cohort of 3764 consecutive patients diagnosed with HL or NHL between January 1970 and July 2001 was identified using the Sheffield Lymphoma Group database. A search was undertaken for all patients diagnosed with a subsequent primary malignancy. Two matched controls were identified for each case. Odds ratios were calculated to detect and quantify any risk factors in the cases compared to their matched controls. Mean follow-up for the cohort was 5.2 years. A total of 68 patients who developed second cancers at least 6 months after their primary diagnosis were identified, giving a crude incidence of 1.89% overall: 3.21% among the patients treated for HL, 1.32% in those treated for NHL. Most common were bronchial, breast, colorectal and haematological malignancies. High stage at diagnosis almost reached statistical significance in the analysis of just the NHL patients (odds ratio=3.48; P=0.068) after adjustment for other factors. Treatment modality was not statistically significant in any analysis. High stage at diagnosis of NHL may be a risk factor for developing a second primary cancer. PMID:16106249

Basic and clinical aspects of malignant melanoma

DOE Office of Scientific and Technical Information (OSTI.GOV)

Nathanson, L.

1987-01-01

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

Malignant Melanoma Presenting as a Mediastinal Malignant Melanoma Presenting as a Mediastinal Unknown Primary Origin?

PubMed

Pujani, Mukta; Hassan, Mohd Jaseem; Jetley, Sujata; Raina, Prabhat Kumar; Kumar, Mukesh

2017-01-01

The most common site of primary malignant melanoma is the skin, however, virtually any organ system may be involved. Metastatic melanoma of unknown primary origin accounts for approximately 2-6% of all melanoma cases. The mediastinum as the site for malignant melanoma is extremely rare, both as a primary or metastatic lesion. Primary malignant melanoma of mediastinum is very rare with only a handful of reports in the literature. We hereby report a rare case of malignant melanoma of mediastinum in a 31 year old male who was initially misdiagnosed on fine needle aspiration cytology as adenocarcinoma for which he received chemotherapy with clinical deterioration. Even on extensive meticulous search, no primary was discovered.

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

ERIC Educational Resources Information Center

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

2007-01-01

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

Doing the math: A simple approach to topical timolol dosing for infantile hemangiomas.

PubMed

Dalla Costa, Renata; Prindaville, Brea; Wiss, Karen

2018-03-01

Topical timolol maleate has recently gained popularity as a treatment for superficial infantile hemangiomas, but calculating a safe dose of timolol can be time consuming, which may limit the medication's use in fast-paced clinical environments. This report offers a simplified calculation of the maximum daily safe dosage as 1 drop of medication per kilogram of body weight. © 2018 Wiley Periodicals, Inc.

Infantile parkinsonism-dystonia: a dopamine "transportopathy".

PubMed

Blackstone, Craig

2009-06-01

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.

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

PubMed Central

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

2012-01-01

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

[About the signs of malignant pheochromocytoma].

PubMed

Simonenko, V B; Makanin, M A; Dulin, P A; Vasilchenko, M I; Lesovik, V S

2012-01-01

Morphological criteria for malignant pheochromocytoma remain to be developed According to the WHO recommendations, the sole absolute criteria is the presence of metastases in the organs normally containing no chromaffin tissue. Such signs as cellular and nuclear polymorphism, mytotic activity, vascular invasion, capsular ingrowth are not sufficient to describe a pheochromocytoma as malignant. It is equally dfficult to differentiate between malignant and benign tumours based on histological data since histologically mature neoplasms can produce metastases. Based on the results of original studies, the authors believe that such histological features as vascular and capsular invasion do not necessarily suggest unfavourable prognosis. Therefore, the conclusion of malignancy based on such features can not be regarded as absolute. Probably such neoplasms should be called "pheochromocytomas with morphological signs of malignant growths". They should be referred to the tumours with uncertain malignancy potential based on the known discrepancy between morphological structure and biological activity of neoplasms. Comparative studies of clinical and morphological features of pheochromocytomas showed that their histological type (alveolar; solid, dyscomplexed, trabecular) and morphological signs of malignant growth influence both the clinical picture and arterial hypertension. There are no significant relationship between the above morphological signs, timour mass and clinical manifestations of pheochromocytomas.

Giant Malignant Pheochromocytoma with Palpable Rib Metastases

PubMed Central

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

2014-01-01

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

Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome.

PubMed

Ramaekers, V Th; Segers, K; Sequeira, J M; Koenig, M; Van Maldergem, L; Bours, V; Kornak, U; Quadros, E V

2018-05-01

Cerebral folate deficiency (CFD) syndromes are defined as neuro-psychiatric conditions with low CSF folate and attributed to different causes such as autoantibodies against the folate receptor-alpha (FR) protein that can block folate transport across the choroid plexus, FOLR1 gene mutations or mitochondrial disorders. High-dose folinic acid treatment restores many neurologic deficits. Among 36 patients from 33 families the infantile-onset CFD syndrome was diagnosed based on typical clinical features and low CSF folate. All parents were healthy. Three families had 2 affected siblings, while parents from 4 families were first cousins. We analysed serum FR autoantibodies and the FOLR1 and FOLR2 genes. Among three consanguineous families homozygosity mapping attempted to identify a monogenetic cause. Whole exome sequencing (WES) was performed in the fourth consanguineous family, where two siblings also suffered from polyneuropathy as an atypical finding. Boys (72%) outnumbered girls (28%). Most patients (89%) had serum FR autoantibodies fluctuating over 5-6 weeks. Two children had a genetic FOLR1 variant without pathological significance. Homozygosity mapping failed to detect a single autosomal recessive gene. WES revealed an autosomal recessive polynucleotide kinase 3´phosphatase (PNKP) gene abnormality in the siblings with polyneuropathy. Infantile-onset CFD was characterized by serum FR autoantibodies as its predominant pathology whereas pathogenic FOLR1 gene mutations were absent. Homozygosity mapping excluded autosomal recessive inheritance of any single responsible gene. WES in one consanguineous family identified a PNKP gene abnormality that explained the polyneuropathy and also its contribution to the infantile CFD syndrome because the PNKP gene plays a dual role in both neurodevelopment and immune-regulatory function. Further research for candidate genes predisposing to FRα-autoimmunity is suggested to include X-chromosomal and non-coding DNA regions

Malignant melanocytic neoplasm of pancreas with liver metastasis: Is it malignant melanoma or clear cell sarcoma?

PubMed

Kodiatte, Thomas Alex; George, Sam Varghese; Chacko, Raju Titus; Ramakrishna, Banumathi

2017-01-01

Malignant melanocytic neoplasm, usually seen in soft tissues, is rare in a visceral location and presents as a diagnostic dilemma. We present a case of pancreatic malignant melanocytic neoplasm with liver metastasis. A 58-year-old man presented with left upper abdominal swelling and loss of appetite. Imaging revealed a large mass arising from the pancreatic tail, and this was diagnosed as malignant neoplasm with melanocytic differentiation on biopsy with the possible differentials of malignant melanoma, clear cell sarcoma (CCS), and perivascular epithelioid cell neoplasm. The patient underwent distal pancreatectomy and splenectomy for the same. Follow-up imaging 6 months later showed a metastatic liver lesion, for which he also underwent a liver resection. BRAF mutational analysis was found to be negative. Both CCS and malignant melanoma have similar morphological features and melanocytic differentiation, but each harbors a distinct genetic background. Differentiation of both has diagnostic and therapeutic implications.

Orbital infantile myofibroma: a case report and clinicopathologic review of 24 cases from the literature.

PubMed

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

2011-09-01

Isolated orbital infantile myofibroma are rare tumors in the head and neck. The mass-like clinical presentation and variable histologic features result in frequent misdiagnosis and potentially inappropriate clinical management. There are only a few reported cases in the English literature. Twenty-four patients with orbital infantile myofibroma or myofibromatosis were compiled from the English literature (Medline 1960-2011) and integrated with this case report. The patients included 14 males and 10 females, aged newborn to 10 years (mean, 34.8 months), who presented with a painless mass in the infra- or supraorbital regions, usually increasing in size andassociated with exophthalmos (n = 5). Females were on average older than their male counterparts (38.9 vs. 31.9 months, respectively; P = 0.71). The tumors were twice as frequent on the left (n = 16) than right (n = 8). Patients experienced symptoms for an average of 2.7 months before clinical presentation. The tumors involved the bone (n = 17) or the soft tissues (n = 7) of the orbit, with extension into the nasal or oral cavity (n = 3). The mean size was 3.0 cm, with a statistically significant difference between males and females (mean: 3.9 vs. 1.82; P = 0.0047), but without any differences based on age at presentation (P = 0.25), duration of symptoms (P = 0.66), or bone or soft tissue involvement (P = 0.51). Grossly, all tumors were well-circumscribed, firm to rubbery, homogenous, and white-grey. Histologically, the tumors were biphasic, showing whorled and nodular areas of fusiform cells with extracellular collagen, mixed with a population of small, primitive-appearing, darkly staining cells. Necrosis was not present, but mitoses could be seen. Tumors with immunohistochemistry performed showed strong and diffuse smooth muscle actin and vimentin immunoreactivity, but were negative with muscle specific actin, desmin, MYOD1, myogenin, S100 protein, GFAP, keratin, CD31, 34, Factor VIIIR

Beard infantile hemangioma and subglottic involvement: are median pattern and telangiectatic aspect the clue?

PubMed

Piram, M; Hadj-Rabia, S; Boccara, O; Couloigner, V; Hamel-Teillac, D; Bodemer, C

2016-12-01

Identification of patient at risk of subglottic infantile hemangioma (IH) is challenging because subglottic IH can grow fast and cause airway obstruction with a fatal course. To refine the cutaneous IH pattern at risk of subglottic IH. Prospective and retrospective review of patients with cutaneous IH involving the beard area. IHs were classified in the bilateral pattern group (BH) or in the unilateral pattern group (UH). Infantile hemangioma topography, subtype (telangiectatic or tuberous), ear, nose and throat (ENT) manifestations and subglottic involvement were recorded. Thirty-one patients (21 BH and 10 UH) were included during a 20-year span. Nineteen patients (16 BH and 3 UH) had subglottic hemangioma. BH and UH group overlap on the median pattern (tongue, gum, lips, chin and neck). Median pattern, particularly the neck area and telangiectatic subtype of IH were significantly associated with subglottic involvement. Patients presenting with telangiectatic beard IH localized on the median area need early ENT exploration. They should be treated before respiratory symptoms occur. © 2016 European Academy of Dermatology and Venereology.

Infantile hydrocephalus: a review of epidemiology, classification and causes

PubMed Central

Tully, Hannah M; Dobyns, William B

2015-01-01

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

[Course and treatment of infantile asthma in our milieu].

PubMed

Scrigni, A; Grenoville, M; de Sarasqueta, P; Verna, R; Breiter, P; Jimenez, C

1993-01-01

We studied the clinical evolution and therapeutic approach of 50 children who were treated at the Emergency Room for an asthmatic crisis. We observed a high frequency of early onset of asthma before one year of age (n:16), constant symptoms between the crisis (n:34) and previous admissions before the present crisis (n:34) and previous admissions before the present crisis (n:16). Most cases did not have a family doctor. In 16 cases, the present crisis had four or more days of duration. We observed a frequent administration of suboptimal doses of bronchodilator and antiinflammatory drugs. These results show a non satisfactory treatment of infantile asthma.

Hemostasis and malignancy.

PubMed

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

1998-01-01

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

Bilateral primary malignant lymphoma of the breast.

PubMed

Shpitz, B; Witz, M; Kaufman, Z; Griffel, B; Manor, Y; Dinbar, A

1985-08-01

A rare case of bilateral primary malignant lymphoma of breast in a 76 year old woman is presented. The lesion was examined by electron microscopy and immunochemistry. The diagnosis of primary malignant lymphoma remains a diagnosis by exclusion and requires extensive work-up to exclude widespread malignant process. The behaviour of this malignancy tends to be an aggressive one and the prognosis is generally poor.

[The medical and social impact of the gross domestic product on the life expectancy and infantile mortality in Romania].

PubMed

Rada, Cornelia; Albu, Adriana; Baciu, Adina; Gavăt, Viorica; Petrariu, F D

2006-01-01

In this study we have analyzed the correlations between the GDP reported on every inhabitant and the life expectancy respective the infantile mortality rates. Analysis cover 11 countries, divided in four categories: three former countries members of EU (France, Italy, Sweden), three countries recently admitted (2004) in E.U. (Poland, Slovenia, Hungary), two countries which will join E.U. in 2007 and other three countries none located in Europe (Canada, Japan, USA). In the countries that invest a lot in health care system the life expectancy at birth is bigger that in other countries, but this relation is not a linear one. Infantile mortality in modern society is strongly influenced by the socio-economic status.

Malignant gastric lymphoma with spontaneous perforation.

PubMed

Shimada, Satoko; Gen, Tokichi; Okamoto, Hiroyuki

2013-01-17

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

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

PubMed

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

2013-01-01

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

Malignant external otitis: CT evaluation

DOE Office of Scientific and Technical Information (OSTI.GOV)

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

1982-11-01

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

Identification of Candida albicans by using different culture medias and its association in potentially malignant and malignant lesions.

PubMed

Saigal, Sonal; Bhargava, Ankur; Mehra, S K; Dakwala, Falguni

2011-07-01

The present study evaluates the association of Candida albicans with normal control group, potentially malignant and malignant lesions of oral cavity by using two different liquid culture media. Saliva was collected and biopsy was taken only from those clinically suspected potentially malignant and malignant lesions for histopathological diagnosis. Saliva samples were inoculated for fungal growth in Sabouraud's dextrose agar and culture-positive samples had undergone for Germ tube test. Germ tube-positive samples were further taken for quantification of chlamydospore production in liquid media at 8 and 16 hours. In normal control groups no fungus growth was found; however, potentially malignant and malignant cases showed fungus growth, positive germ tube test and chlamydospore formation. The result also showed rapid and quantitatively more chlamydospore formation in corn meal broth + 5% milk in comparison to serum milk culture media. The oral mucosa is compromised in potentially malignant lesions, it can be argued that this species may be involved in carcinogenesis by elaborating the nitrosamine compounds which either act directly on oral mucosa or interact with other chemical carcinogens to activate specific proto-oncogenes and thereby initiate oral neoplasia.

Identification of Candida albicans by using different culture medias and its association in potentially malignant and malignant lesions

PubMed Central

Saigal, Sonal; Bhargava, Ankur; Mehra, S. K.; Dakwala, Falguni

2011-01-01

Background and Objective: The present study evaluates the association of Candida albicans with normal control group, potentially malignant and malignant lesions of oral cavity by using two different liquid culture media. Materials and Methods: Saliva was collected and biopsy was taken only from those clinically suspected potentially malignant and malignant lesions for histopathological diagnosis. Saliva samples were inoculated for fungal growth in Sabouraud's dextrose agar and culture-positive samples had undergone for Germ tube test. Germ tube-positive samples were further taken for quantification of chlamydospore production in liquid media at 8 and 16 hours. Results: In normal control groups no fungus growth was found; however, potentially malignant and malignant cases showed fungus growth, positive germ tube test and chlamydospore formation. The result also showed rapid and quantitatively more chlamydospore formation in corn meal broth + 5% milk in comparison to serum milk culture media. Conclusion: The oral mucosa is compromised in potentially malignant lesions, it can be argued that this species may be involved in carcinogenesis by elaborating the nitrosamine compounds which either act directly on oral mucosa or interact with other chemical carcinogens to activate specific proto-oncogenes and thereby initiate oral neoplasia. PMID:22090762

Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.

PubMed

Helman, Guy; Caldovic, Ljubica; Whitehead, Matthew T; Simons, Cas; Brockmann, Knut; Edvardson, Simon; Bai, Renkui; Moroni, Isabella; Taylor, J Michael; Van Haren, Keith; Taft, Ryan J; Vanderver, Adeline; van der Knaap, Marjo S

2016-03-01

Succinate dehydrogenase-deficient leukoencephalopathy is a complex II-related mitochondrial disorder for which the clinical phenotype, neuroimaging pattern, and genetic findings have not been comprehensively reviewed. Nineteen individuals with succinate dehydrogenase deficiency-related leukoencephalopathy were reviewed for neuroradiological, clinical, and genetic findings as part of institutional review board-approved studies at Children's National Health System (Washington, DC) and VU University Medical Center (Amsterdam, the Netherlands). All individuals had signal abnormalities in the central corticospinal tracts and spinal cord where imaging was available. Other typical findings were involvement of the cerebral hemispheric white matter with sparing of the U fibers, the corpus callosum with sparing of the outer blades, the basis pontis, middle cerebellar peduncles, and cerebellar white matter, and elevated succinate on magnetic resonance spectroscopy (MRS). The thalamus was involved in most studies, with a predilection for the anterior nucleus, pulvinar, and geniculate bodies. Clinically, infantile onset neurological regression with partial recovery and subsequent stabilization was typical. All individuals had mutations in SDHA, SDHB, or SDHAF1, or proven biochemical defect. Succinate dehydrogenase deficiency is a rare leukoencephalopathy, for which improved recognition by magnetic resonance imaging (MRI) in combination with advanced sequencing technologies allows noninvasive diagnostic confirmation. The MRI pattern is characterized by cerebral hemispheric white matter abnormalities with sparing of the U fibers, corpus callosum involvement with sparing of the outer blades, and involvement of corticospinal tracts, thalami, and spinal cord. In individuals with infantile regression and this pattern of MRI abnormalities, the differential diagnosis should include succinate dehydrogenase deficiency, in particular if MRS shows elevated succinate. © 2016 American

Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity.

PubMed

Intusoma, Utcharee; Hayeeduereh, Fadell; Plong-On, Oradawan; Sripo, Thanya; Vasiknanonte, Punnee; Janjindamai, Supachai; Lusawat, Apasri; Thammongkol, Sasipa; Visudtibhan, Anannit; Limprasert, Pornprot

2011-09-01

To perform CDKL5 mutation screening in Thai children with cryptogenic infantile intractable epilepsy and to determine the clinical sensitivity of CDKL5 screening when different inclusion criteria were applied. Children with cryptogenic infantile intractable epilepsy were screened for CDKL5 mutation using multiplex ligation-dependent probe amplification and DNA sequencing. The clinical sensitivity was reviewed by combining the results of studies using similar inclusion screening criteria. Thirty children (19 girls and 11 boys) with a median seizure onset of 7 months were screened. Almost a half had infantile spasms and one fifth had stereotypic hand movements. A novel c.2854C>T (p.R952X) was identified in an ambulatory girl who had severe mental retardation, multiple types of seizures without Rett-like features. Her mother had a mild intellectual disability, yet her grandmother and half sister were normal despite having the same genetic alteration (random X-inactivation patterns). The pathogenicity of p.R952X identified here was uncertain since healthy relatives and 6 female controls also harbor this alteration. The clinical sensitivity of CDKL5 mutation screening among females with Rett-like features and negative MECP2 screening was 7.8% while the clinical sensitivity among females having cryptogenic intractable seizures with an onset before the ages of 12, 6 and 3 months were 4.7, 11.6 and 14.3%, respectively. Copyright © 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

[Infantile autism and mirror neurons].

PubMed

Cornelio-Nieto, J O

2009-02-27

Infantile autism is a disorder that is characterised by alterations affecting reciprocal social interactions, abnormal verbal and non-verbal communication, poor imaginative activity and a restricted repertoire of activities and interests. The causes of autism remain unknown, but there are a number of different approaches that attempt to explain the neurobiological causes of the syndrome. A recent theory that has been considered is that of a dysfunction in the mirror neuron system (MNS). The MNS is a neuronal complex, originally described in monkeys and also found in humans, that is related with our movements and which offers specific responses to the movements and intended movements of other subjects. This system is believed to underlie processes of imitation and our capacity to learn by imitation. It is also thought to play a role in language acquisition, in expressing the emotions, in understanding what is happening to others and in empathy. Because these functions are altered in children with autism, it has been suggested that there is some dysfunction present in the MNS of those with autism. Dysfunction of the MNS could account for the symptoms that are observed in children with autism.

Clinicopathologic features and survival in Spitzoid malignant melanoma and conventional malignant melanoma.

PubMed

Semkova, Kristina; Lott, Jason P; Lazova, Rossitza

2014-09-01

Although recent advances in genetics have revealed distinct mutational profiles and molecular signaling pathways associated with Spitzoid malignant melanoma (SMM), less is known about the clinicopathologic characteristics and behavior of SMM compared with conventional melanoma. We sought to determine the clinicopathologic characteristics and mortality risk associated with SMM and conventional malignant melanoma. We conducted a retrospective study of 30 patients with SMM and 30 patients with conventional melanoma. The two groups were matched by age, gender, and depth of tumor invasion. Additional patient- and tumor-level characteristics were compared between groups and regression modeling was used to assess relative mortality risk. Unadjusted analyses of SMM and conventional malignant melanoma revealed no significant differences in clinical impression, anatomic location, mitotic rate, and presence of ulceration. Sentinel lymph node biopsy, completion lymphadenectomy, and visceral metastases did not differ between groups. Cox proportional hazards regression showed no differences in mortality between Spitzoid and conventional melanoma. Small sample size, short follow-up duration, and residual confounding may limit the accuracy and generalizability of our results. SMM and conventional malignant melanoma differ in some clinicopathologic features. We did not find a statistically significant difference in mortality between the two. Copyright © 2014 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

Risk of metastatic ovarian involvement in nongynecologic malignancies.

PubMed

Kim, Kidong; Cho, Soo Youn; Park, Sang-Il; Kang, Hye Jin; Kim, Beob-Jong; Kim, Moon-Hong; Choi, Seok-Cheol; Ryu, Sang-Young; Lee, Eui-Don

2012-01-01

The objectives were to evaluate the risk of malignant adnexal tumors in women with nongynecologic malignancies and to identify variables associated with the risk of malignant adnexal tumors. The eligibility criteria included the diagnosis of a nongynecologic malignancy and adnexal tumors, which were resected or subjected to biopsy at our institute between 1999 and 2010. The risk of malignant adnexal tumors was assessed by dividing the number of patients with metastatic tumors to the adnexa or primary adnexal cancers by the total number of patients. The association of clinicopathologic variables with the risk of malignant adnexal tumors was evaluated using the Fisher exact test and binary logistic regression analysis. In patients with metastatic tumors to the adnexa, the association of clinicopathologic variables with overall survival after adnexal surgery was examined using the log-rank test. In 166 patients with adnexal tumors, 41 benign tumors, 113 metastatic tumors to the adnexa, and 12 primary adnexal cancers were diagnosed. Age older than 46 years, a tumor type associated with a high risk for malignant adnexal tumors, and bilateral tumors significantly increased the risk of malignant adnexal tumors. The overall survival of the patients with stomach cancer was significantly worse than the patients with colorectal or breast cancers. One hundred twenty-five of the 166 patients with nongynecologic malignancies who had adnexal tumors managed surgically were shown to have malignant tumors, and most of the tumors were metastatic from primary sites. The risk of malignant adnexal tumors was associated with age, nongynecologic malignancy, and bilaterality.

Bilateral primary malignant lymphoma of the breast.

PubMed Central

Shpitz, B.; Witz, M.; Kaufman, Z.; Griffel, B.; Manor, Y.; Dinbar, A.

1985-01-01

A rare case of bilateral primary malignant lymphoma of breast in a 76 year old woman is presented. The lesion was examined by electron microscopy and immunochemistry. The diagnosis of primary malignant lymphoma remains a diagnosis by exclusion and requires extensive work-up to exclude widespread malignant process. The behaviour of this malignancy tends to be an aggressive one and the prognosis is generally poor. Images Figure 1 Figure 2 PMID:4034464

Maternally inherited Leigh syndrome: an unusual cause of infantile apnea.

PubMed

Shuk-kuen Chau, Christy; Kwok, Ka-li; Ng, Daniel K; Lam, Ching-Wan; Tong, Sui-Fan; Chan, Yan-Wo; Siu, Wai-Kwan; Yuen, Yuet-Ping

2010-06-01

Leigh Syndrome is an uncommon cause of infantile apnea. We report a 5-month-old girl with sudden respiratory arrest followed by episodic hyper- and hypo-ventilation, encephalopathy, and persistent lactic acidosis. Computed tomography of the brain revealed symmetric low densities over the basal ganglia, internal capsule, thalami, and midbrain. Cardiac echocardiogram was suggestive of hypertrophic cardiomyopathy. Diagnosis of Leigh syndrome due to T8993G mutation was confirmed with polymerase chain reaction and direct DNA sequencing of mitochondrial genome. To our knowledge, this is the first report of proven maternally inherited Leigh syndrome in Hong Kong.

[Diode laser in "Malignant Glaucoma" treatment].

PubMed

Bresson Dumont, H; Ballereau, L; Lehoux, A; Santiago, P-Y

2006-05-01

Malignant glaucoma remains one of the most dramatic complications of ocular surgery. It can occur after glaucoma surgery but also after iridotomy, capsulotomy, or cataract extraction. However, the mechanisms remain unclear. to evaluate diode laser cyclodestruction as a complementary treatment in refractory malignant glaucoma. Seven women with malignant glaucoma with onset several months before (mean, 43 months; range, 12-96 months), in whom shallow anterior chamber and high IOP (25 mmHg +/- 5.5 treated with 2.86 +/- 0.9 topical and systemic medications) persisted despite prior surgical treatment (mean, 2; range, 1-5). Controlateral eyes had hyperopia (mean, +3.7 D, range, +1 to +6), five had shallow anterior chamber and high IOP. UBM detected plateau iris in four women. Seven eyes with malignant glaucoma and three controlateral eyes underwent cyclodestruction with diode laser (Viridis Twin Quantel Medical, laser, 810 nm), 22 burns around 270 degrees , 2 mm from the limbus for glaucomatous eyes and 15 inferior burns for controlateral eyes. Resolution of malignant glaucoma, with lower pressure (mean, 35%; range, 10%-70%), lower levels of medications (64%), final IOP at 13.2 mmHg (+/- 4.7), and deepening anterior chamber was achieved in all cases (mean follow-up, 18 months; range, 12-22). Cycloplegic topical treatment was stopped in 70% of cases. Diode laser cyclodestruction can help to resolve refractory malignant glaucoma. Larger UBM studies could help us to better understand the mechanisms of malignant glaucoma.

Expression of HES and HEY genes in infantile hemangiomas.

PubMed

Adepoju, Omotinuwe; Wong, Alvin; Kitajewski, Alex; Tong, Karen; Boscolo, Elisa; Bischoff, Joyce; Kitajewski, Jan; Wu, June K

2011-08-11

Infantile hemangiomas (IHs) are the most common benign tumor of infancy, yet their pathogenesis is poorly understood. IHs are believed to originate from a progenitor cell, the hemangioma stem cell (HemSC). Recent studies by our group showed that NOTCH proteins and NOTCH ligands are expressed in hemangiomas, indicating Notch signaling may be active in IHs. We sought to investigate downstream activation of Notch signaling in hemangioma cells by evaluating the expression of the basic HLH family proteins, HES/HEY, in IHs. HemSCs and hemangioma endothelial cells (HemECs) are isolated from freshly resected hemangioma specimens. Quantitative RT-PCR was performed to probe for relative gene transcript levels (normalized to beta-actin). Immunofluorescence was performed to evaluate protein expression. Co-localization studies were performed with CD31 (endothelial cells) and NOTCH3 (peri-vascular, non-endothelial cells). HemSCs were treated with the gamma secretase inhibitor (GSI) Compound E, and gene transcript levels were quantified with real-time PCR. HEY1, HEYL, and HES1 are highly expressed in HemSCs, while HEY2 is highly expressed in HemECs. Protein expression evaluation by immunofluorescence confirms that HEY2 is expressed by HemECs (CD31+ cells), while HEY1, HEYL, and HES1 are more widely expressed and mostly expressed by perivascular cells of hemangiomas. Inhibition of Notch signaling by addition of GSI resulted in down-regulation of HES/HEY genes. HES/HEY genes are expressed in IHs in cell type specific patterns; HEY2 is expressed in HemECs and HEY1, HEYL, HES1 are expressed in HemSCs. This pattern suggests that HEY/HES genes act downstream of Notch receptors that function in distinct cell types of IHs. HES/HEY gene transcripts are decreased with the addition of a gamma-secretase inhibitor, Compound E, demonstrating that Notch signaling is active in infantile hemangioma cells.

[A case of triple malignant tumors consisting of esophagus, stomach and malignant lymphoma with a histopathological feature of collision between gastric cancer and malignant lymphoma--a case report].

PubMed

Tagami, Keita; Tanda, Shigeru; Tokumura, Hiromi; Yamaguchi, Masaaki

2010-12-01

We report a rare case of a collision between a gastric cancer and a malignant lymphoma with a wide systemic metastasis, combined with esophagus cancer, stomach cancer and malignant lymphoma. A 73-year-old man complained of gross hematuria and swelling of the right testis. Magnetic resonance imaging (MRI) revealed that both testes were swollen with unequal contrast and there were numerous tumors in the retroperitoneal space and pelvis. He was diagnosed with malignant diffuse large B cell lymphoma by immunostaining from the extirpated right testis. He received six cycles of R-CHOP therapy. After the second cycle, partial remission was recognized, but the tumors spread again by the fourth cycle. Thereafter, we performed MTX-HOPE therapy as a salvage therapy for four cycles. During this chemotherapy, he felt epigastralgia; esophagus cancer (squamous cell carcinoma) and stomach cancer (highly-differentiated adenocarcinoma) were found by upper endoscopy. However, the gastrointestinal cancer was inoperable, since the malignant lymphoma was progressive. His general status had been exacerbated, and he died about one year after he was diagnosed with malignant lymphoma. Pathological examination revealed that the adenocarcinoma had partly collided with the malignant lymphoma.

Malignant Mesothelioma—Health Professional Version

Cancer.gov

Epithelial mesothelioma is the most common type of malignant mesothelioma, which forms in the cells that line organs. The other types begin in spindle-shaped cells called sarcomatoid cells or are a mixture of both cell types. Find evidence-based information on malignant mesothelioma treatment.

Multiple metastatic malignant melanoma presenting intraluminal gallbladder bleeding.

PubMed

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

2014-01-01

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

Cerebellar degeneration following neuroleptic malignant syndrome.

PubMed Central

Lal, V.; Sardana, V.; Thussu, A.; Sawhney, I. M.; Prabhakar, S.

1997-01-01

A 55-year-old woman with a history of bipolar affective disorder developed hyperpyrexia, rigidity and depressed consciousness (neuroleptic malignant syndrome) after commencing neuroleptic therapy. On regaining consciousness, she was mute and had signs suggesting pancerebellar involvement. Hyperpyrexia, which is a cardinal feature of neuroleptic malignant syndrome, may have caused cerebellar damage. Neuroleptic malignant syndrome needs both early recognition and prompt treatment to obviate devastating complications. PMID:9519191

Malignant ventricular arrhythmias in alcoholic cardiomyopathy.

PubMed

Guzzo-Merello, Gonzalo; Dominguez, Fernando; González-López, Esther; Cobo-Marcos, Marta; Gomez-Bueno, Manuel; Fernandez-Lozano, Ignacio; Millan, Isabel; Segovia, Javier; Alonso-Pulpon, Luis; Garcia-Pavia, Pablo

2015-11-15

Excessive alcohol consumption is a well-known aetiology of atrial arrhythmias but there is little information concerning the prevalence or incidence of malignant ventricular arrhythmias in alcoholic cardiomyopathy (ACM). This study sought to investigate incidence and predictive factors of ventricular arrhythmias in ACM. Retrospective observational study of the clinical characteristics and long-term arrhythmic events in 282 consecutive patients with ACM (94 individuals) and idiopathic dilated cardiomyopathy (IDCM) (188 individuals) evaluated between 1993 and 2011. During a median follow-up of 38months (IQR:12-77), 42 patients died and 79 underwent heart transplantation [31 (33%) with ACM vs 90 (48%) with IDCM; p=0.017]. A total of 37 (13%) patients [18 (19%) ACM vs 20 (11%) IDCM; p=0.048] suffered malignant ventricular arrhythmias. On multivariate analysis, left bundle branch block (LBBB) (OR 2.4; CI95%: 1.2-5; p=0.015) and alcoholic aetiology (OR 2.3; CI95%: 1.1-4.5; p=0.026) were the only independent predictors of malignant ventricular arrhythmic events. A total of 18 (19%) ACM patients experienced 20 malignant ventricular arrhythmic events (4 aborted SCD, 8 SCD and 8 appropriate ICD therapies). At baseline evaluation, the only independent predictor of malignant ventricular arrhythmias in ACM patients was LBBB (OR 11.2; CI95%: 2.6-50; p=0.001). No malignant ventricular arrhythmias were recorded during follow-up in ACM patients if left ventricular ejection fraction (LVEF) had increased or remained ≥40%. Malignant ventricular arrhythmias are more frequent in ACM than in IDCM. LBBB identifies ACM patients with increased risk of SCD. No malignant ventricular arrhythmias were found during follow-up in ACM patients when LVEF was ≥40%. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Teaching neuroimages: infant with glutaric aciduria type 1 presenting with infantile spasms and hypsarrhythmia.

PubMed

Young-Lin, Nichole; Shalev, Sarah; Glenn, Orit A; Gardner, Marisa; Lee, Chung; Wynshaw-Boris, Anthony; Gelfand, Amy A

2013-12-10

A 7-month-old boy with glutaric aciduria type 1 (GA1) presented with 1 week of clustered flexor spasms. Examination revealed mild axial hypotonia without encephalopathy. Video-EEG monitoring revealed hypsarrhythmia and infantile spasms (figure, A). MRI showed acute basal ganglia injury (figure, B). After 3 weeks of prednisolone treatment, 5-month follow-up showed continued resolution of hypsarrhythmia and spasms.

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

ERIC Educational Resources Information Center

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

2011-01-01

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

The prevalence of intraspinal anomalies in infantile and juvenile patients with "presumed idiopathic" scoliosis: a MRI-based analysis of 504 patients.

PubMed

Zhang, Wen; Sha, Shifu; Xu, Leilei; Liu, Zhen; Qiu, Yong; Zhu, Zezhang

2016-04-27

Though several studies have reported the incidence of intraspinal neural axis abnormalities in infantile and juvenile "presumed idiopathic" scoliosis, there has been a varying prevalence ranging from 11.1 to 26.0% based on a limited sample size. Therefore, such inconclusive findings have resulted in some questions on the MRI-associated role in the management of these patients. We aimed to investigate the prevalence and distribution of intraspinal anomalies in the infantile and juvenile patients with "presumed idiopathic" scoliosis and to explore the radiographic and clinical indicators with large sample size. A total of 504 infantile and juvenile patients diagnosed with "presumed idiopathic" scoliosis were examined for potentially-existing neural axis abnormalities by MRI. Patients were grouped into two cohorts according to the presence of neural axis abnormalities. Radiographic parameters including curve magnitude, curve pattern, location of apex, degree of thoracic kyphosis, and span of curve were recorded and compared between the two groups. The prevalence of the neural abnormalities between the infantile-age group and juvenile-age group was also compared. The student t test was used to evaluate the differences of continuous variables and the chi-square test was used to evaluate the difference of categorical variables. Fisher exact test was applied to detect the difference of the rate of intraspinal anomalies between the "infantile idiopathic scoliosis" and "juvenile idiopathic scoliosis" group. Involving the spinal cord, 94 patients (18.7%) were found to have a neural abnormality: Arnold-Chiari malformation alone in 43 patients, Arnold-Chiari malformation combined with syringomyelia in 18 patients, isolated syringomyelia in 13 patients, diastematomyelia in six patients, tethered cord combined with diastematomyelia in six patients, tethered cord alone in four patients, and other uncommon intraspinal abnormalities in the remaining four patients. Totally Arnold

Malignancy in solitary solid cold thyroid nodule.

PubMed

Fariduddin, M; Amin, A H; Ahmed, M U; Karim, S S; Moslem, F; Kamal, M

2012-04-01

Solitary thyroid nodule is a common endocrine problem. The main concern of solitary thyroid nodule lies in excluding the malignancy & to operate on as few patients as possible. Other than history & clinical examination, hormone assessment, USG of thyroid gland, radionuclide scan & FNAC were used to differentiate malignant nodules from benign ones. In this study 127 cases with solitary thyroid nodule of all age group & both sexes were included from Endocrine & Thyroid clinic of BSMMU. They were clinically & biochemically euthyroid & had cold nodule on radionuclide scan. USG & FNAC were done & subsequently they underwent surgical procedure. On the basis of postoperative histopathological report the specimens were divided into benign & malignant groups. All the nodules were cold among which 104 were solid & 23 were mixed in consistency. Of the 104 solid cold nodules histopathology revealed 36(34.6%) malignant & 68(65.4%) benign cases. From the 23 mixed cold solitary nodule 5(21.7%) appeared malignant & 18(78.3%) were benign. So malignancy was higher in solid cold group than the mixed cold one but this was not statistically significant (p=0.673). FNAC was done & it revealed that 83(65.5%) cases were benign, 10(7.8%) cases were suspicious & 34(26.7%) were malignant. Finally histopathology showed 41(32.3%) cases were positive & 86(67.7%) cases were negative for malignancy.

Infantile bilateral glaucoma in a child with ectodermal dysplasia.

PubMed

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

2013-01-01

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.

Parasitic infections associated with malignancy and leprosy.

PubMed

Azab, M E; Mohamed, N H; Salem, S A; Safar, E H; Bebars, M A; Sabry, N M; Mohamed, M S

1992-04-01

Results of parasitic infections, as revealed by urine and stool examination was significant (P less than 0.05) in 43.3% of patients suffering from different malignant diseases and non significant (P greater than 0.05) in 29.3% of leprosy patients compared to 22% in control subjects. The most prevalent parasites were E. histolytica and G. lamblia. Cryptosporidium occysts were not detected. By stool examination and culture, S. stercoralis larvae were detected only in the malignancy group. The most common parasites occurring concomitantly were A. duodenale and S. stercoralis. By the IFAT, strongyloidiasis gave significantly higher positive results in the malignancy group than in the leprosy and control groups. IFAT for toxocariasis, showed highly significant positivity in the leprosy group and significantly positivity in the malignancy group. For toxoplasmosis, it showed highly significant positive results in both leprosy and malignancy groups. Eosinophilia was significantly more prominent among malignancy patients and insignificant among those with leprosy. Parasitic infection detected by urine and stool examination among patients with eosinophilia was found in 76% of the malignancy patients and in 66.7% of the leprosy patients.

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

PubMed Central

Yoon, Jin-Ha; Ahn, Yeon-Soon

2014-01-01

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

Genomic and Expression Profiling of Benign and Malignant Nerve Sheath Profiling of Benign and Malignant Nerve Sheath

DTIC Science & Technology

2007-05-01

Benign and Malignant Nerve Sheath Tumors in Neurofibromatosis Patients PRINCIPAL INVESTIGATOR: Matt van de Rijn, M.D., Ph.D. Torsten...Annual 3. DATES COVERED 1 May 2006 –30 Apr 2007 4. TITLE AND SUBTITLE 5a. CONTRACT NUMBER Genomic and Expression Profiling of Benign and Malignant Nerve...Award Number: DAMD17-03-1-0297 Title: Genomic and Expression Profiling of Benign and Malignant Nerve Sheath Tumors in Neurofibromatosis

Development and Validation of a Quality-of-Life Instrument for Infantile Hemangiomas.

PubMed

Chamlin, Sarah L; Mancini, Anthony J; Lai, Jin-Shei; Beaumont, Jennifer L; Cella, David; Adams, Denise; Drolet, Beth; Baselga, Eulalia; Frieden, Ilona J; Garzon, Maria; Holland, Kristin; Horii, Kimberly A; Lucky, Anne W; McCuaig, Catherine; Metry, Denise; Morel, Kimberly D; Newell, Brandon D; Nopper, Amy J; Powell, Julie; Siegel, Dawn; Haggstrom, Anita N

2015-06-01

Infantile hemangiomas (IH) are common tumors for which there is no validated disease-specific instrument to measure the quality of life in infants and their parents/caregivers during the critical first months of life. This study prospectively developed and validated a quality-of-life instrument for patients with IH and their parents/caregivers and correlated demographic and clinical features to the effects on the quality of life. A total of 220 parents/caregivers completed the 35-item Infantile Hemangioma Quality-of-Life (IH-QoL) instrument and provided demographic information. The dimensionality of the items was evaluated using factor analysis, with results suggesting four factors: child physical symptoms, child social interactions, parent emotional functioning, and parent psychosocial functioning. Each factor fit the Rasch measurement model with acceptable fit index (mean square <1.4) and demonstrated excellent internal consistency, with alpha ranging from 0.76 to 0.88. The final instrument consists of four scales with a total of 29 items. Content validity was verified by analyzing parents' responses to an open-ended question. Test-retest reliability at a 48-hour interval was supported by a total IH-QoL intraclass correlation coefficient of 0.84. Certain clinical characteristics of hemangioma, including those located on the head and neck, in the proliferative stage, and requiring treatment, are associated with a greater impact on QoL.

[Acute surgical treatment of malignant stroke].

PubMed

Lilja-Cyron, Alexander; Eskesen, Vagn; Hansen, Klaus; Kondziella, Daniel; Kelsen, Jesper

2016-10-24

Malignant stroke is an intracranial herniation syndrome caused by cerebral oedema after a large hemispheric or cerebellar stroke. Malignant middle cerebral artery infarction is a devastating disease with a mortality around 80% despite intensive medical treatment. Decompressive craniectomy reduces mortality and improves functional outcome - especially in younger patients (age ≤ 60 years). Decompression of the posterior fossa is a life-saving procedure in patients with malignant cerebellar infarctions and often leads to good neurological outcome.

Simple Preparation of Timolol 0.5% Gel from Eye Drop Solution for Superficial Infantile Hemangiomas.

PubMed

Choo, Winnie

2017-01-01

The discovery of beta-adrenergic blocker effects on infantile hemangiomas has affected the choice of treatment in recent years. Oral propranolol is effective in treating infantile hemangiomas, but the risk of systemic side effects remains a concern. Data from literature review reported positive clinical outcomes with no major adverse effects observed in children using topical beta-blocker such as timolol maleate. Topical application of timolol eye drop has been mentioned in few studies, most of which reported that the solution cannot stay on the site of application due to its fluidity. Adding hydroxyethyl cellulose into a timolol solution increased its viscosity by forming a hydrogel and thus changed the rheology property. The compounded timolol gel exhibited thixotropy property allowing better and longer contact at sites of application. Experimental data from literature review showed desirable characteristics and measurable flux of timolol across human stratum corneum. Gel dosage form allows easy and precise application and maximizes timolol's therapeutic efficacy at the sites of application. Copyright© by International Journal of Pharmaceutical Compounding, Inc.

Malassezia furfur in infantile seborrheic dermatitis.

PubMed

Wananukul, Siriwan; Chindamporn, Ariya; Yumyourn, Poomjit; Payungporn, Sunchai; Samathi, Chanchuree; Poovorawan, Yong

2005-01-01

Our objective was to study both incidence and various strains of Malassezia in infantile seborrheic dermatitis (ISD). Sixty infants between 2 weeks and 2 years old with clinical diagnosis of ISD at the Department of Pediatrics, King Chulalongkorn Memorial Hospital from May 2002 to April 2003 were recruited. Malassezia spp. were isolated from cultured skin samples of the patients, genomic DNA was extracted and the ITS1 rDNA region was amplified. The PCR product was examined by agarose gel electrophoresis and DNA sequences were determined. The ITS1 sequences were also subjected to phylogenetic analysis and species identification. ISD is most commonly found in infants below the age of 2 months (64%), followed by those between 2 and 4 months (28%) old. Cultures yielded yeast-like colonies in 15 specimens. PCR yielded 200-bp products (Candida) in 3 patients and 300-bp products (Malassezia furfur) in 12 patients (18%). Sugar fermentation using API 20C aux performed on the three 200-bp PCR products yielded Candida species. M. furfur was the only Malassezia recovered from skin scrapings of children with ISD.

Experimental Infantile Polycystic in Kindey Rats the Influence of Age and Sex

PubMed Central

McGeoch, J. E. M.; Woodhouse, M. A.; Darmady, E. M.

1972-01-01

The nephrotoxic effects of an anti-inflammatory compound 5,6,7,8 tetrahydrocarbozole-3-acetic acid in rats were found to be age and sex correlated. Morphologically the experimental lesion mimicked infantile polycystic disease. Application of the drug produced a lowering of the serum gamma globulins, a rise in the urinary protein and an increase in kidney weight associated with oedema and hyperplasia of the proximal and distal tubules. ImagesFig. 5Figs. 9-10Fig. 11Fig. 12Fig. 13 PMID:4115632

Malignant histiocytic lymphoma with large lacunar cells.

PubMed

Leahu, S; Dobrea, M

1997-01-01

A case of lymph node biopsy with a peculiar histological aspect is described. The clinical data suggest a malignant lymphoid disease. The histological picture is that of a malignant histiocytosis but, among the majority of small histiocytes, there are some large cells like the large lacunar cells from Hodgkin's disease. These large cells (and some small cells) contain the CD 30 antigen of Reed-Sternberg cells. It is discussed whether the appropriate diagnosis is Hodgkin's disease, malignant histiocytosis, or non-Hodgkin's malignant lymphoma. Our diagnosis is Hodgkin's disease, the nodular sclerosing form.

Metastatic malignant blue nevus: a case report.

PubMed

Ozgür, F; Akyürek, M; Kayikçioğlu, A; Barişta, I; Gököz, A

1997-10-01

This report presents a 63-year-old Caucasian woman with a malignant blue nevus, which is an extremely rare form of melanoma originating from or associated with a preexisting blue nevus. The background blue nevus on the left upper arm, which had been present for 5 to 6 years, increased in size and darkened in color for 3 months prior to histological diagnosis of malignant blue nevus. Although the tumor looked much like a nodular melanoma clinically, the diagnosis of malignant blue nevus was established histologically. The patient had a poor outcome due to metastatic spread of the tumor to the visceral organs 1 year following the initial excision of the tumor. To distinguish this rare tumor from other melanocytic lesions, strict histological criteria are needed to make the diagnosis of malignant blue nevus. Differential diagnosis includes cellular blue nevus, atypical cellular blue nevus, primary malignant melanoma, and metastatic melanoma to the dermis. Malignant blue nevus is most commonly seen on the scalp. The tumor has an aggressive behavior and metastasizes in the majority of patients. This paper describes the second reported case of malignant blue nevus involving the upper arm. Clinical and histological features of this uncommon tumor are presented, along with a review of the literature.

Impression cytology diagnosis of ulcerative eyelid malignancy.

PubMed

Sen, S; Lyngdoh, A D; Pushker, N; Meel, R; Bajaj, M S; Chawla, B

2015-02-01

The utility of impression cytology in ocular diseases has predominantly been restricted to the diagnosis of dry eye, limbal stem cell deficiency and conjunctival neoplasias. Its role in malignant eyelid lesions remains largely unexplored. Although scrape cytology is more popular for cutaneous lesions, impression cytology, being non-traumatic, has an advantage in small and delicate areas such as the eyelid. The present study has been designed to evaluate its role in the diagnosis and management of malignant eyelid lesions. Thirty-two histopathologically proven malignant eyelid lesions diagnosed over a 2-year period, including 13 basal cell carcinomas, 11 sebaceous carcinomas, four squamous cell carcinomas, two malignant melanomas and two poorly differentiated carcinomas, formed the study group. The results of impression cytology were compared with those of histopathology in the study group and with an age- and sex-matched group of benign cases as controls. The sensitivity of impression cytology was 84% (27/32) for the diagnosis of malignancy and 28% (9/32) for categorization of the type of malignancy. Impression cytology is a simple, useful, non-invasive technique for the detection of malignant ulcerative eyelid lesions. It is especially useful as a follow-up technique for the detection of recurrences. © 2014 John Wiley & Sons Ltd.

Methylene Blue as a Diagnostic Aid in the Early Detection of Potentially Malignant and Malignant Lesions of Oral Mucosa.

PubMed

Lejoy, Abraham; Arpita, Rai; Krishna, Burde; Venkatesh, Naikmasur

2016-05-01

In vivo stains are the prompt resources, which have emerged in recent years to aid as clinical diagnostic tools in detecting early potentially malignant and malignant lesions. Toluidine blue, by its property of retaining in the increased DNA and RNA cellular activity areas, aids in delineating the suspicious areas. However, it is hazardous if swallowed, and has been shown to have toxicity to fibroblasts. Methylene blue has a similar chemical structure and exhibits similar physicochemical properties as toluidine blue. It is less toxic to the human body and has recently been proposed for screening some gastrointestinal or prostate tumors. The application of this material in detecting oral lesions has so far not been addressed. The objective of this study was to evaluate the sensitivity and reliability of in vivo staining with methylene blue as a diagnostic adjunct in screening for oral malignant or potentially malignant lesions. The present study involved the examination of 75 patients suspected of having oral malignant or potentially malignant lesions by methylene blue staining. The results of methylene blue uptake were compared with a simultaneous biopsy of these lesions. The overall sensitivity was 95% (100% for malignancy and 92% for potentially malignant lesions) and specificity was 70%. The positive predictive value was 91% and negative predictive value of 80% was observed in the study. We consider that methylene blue staining is a useful diagnostic adjunct in a large, community-based oral cancer screening program for high-risk individuals.

Malignant lymphoma simulating lymph node toxoplasmosis.

PubMed

Miettinen, M; Franssila, K

1982-03-01

On histological examination of 667 cases originally suspected of lymph node toxoplasmosis, 12 cases were diagnosed as malignant lymphoma and 15 cases as atypical hyperplasia (AH), suspicious of malignant lymphoma. All 12 malignant cases were of Hodgkin's disease: eight of the lymphocyte predominant nodular type, two of lymphocyte predominant diffuse type, and two of the nodular sclerosis type. In all cases, the lymph nodes contained small groups of epithelioid cells which were virtually indistinguishable from those seen in toxoplasmosis. In the differential diagnosis between lymph node toxoplasmosis and malignant lymphoma, the following features were found helpful. In toxoplasmosis the general structure is preserved and germinal centres are frequent, while in malignant lymphoma and in AH the general structure is destroyed. However, in some cases of toxoplasmosis germinal centres may be difficult to identify because their margins are indistinct due to clusters of epithelioid cells. Also, in some types of Hodgkin's disease and in some cases of AH with epithelioid cells, the general structure of the lymph node may be partially preserved. The occurrence of epithelioid cells within germinal centres seems to be a specific feature for toxoplasmosis; it was never seen in malignant lymphoma nor in AH. The occurrence of strands of monocytoid cells (unreife Sinushistiocytose) though a fairly typical feature of toxoplasmosis, was also occasionally seen in Hodgkin's disease or AH.

[Decision tree and cost-benefit analysis on strategies related to preventing maternal-infantile transmission of hepatitis B virus infection].

PubMed

Shi, Guo; Zhang, Shun-xiang

2013-03-01

To synthesize relevant data and to analyze the benefit-cost ratio on strategies related to preventing the maternal-infantile transmission of hepatitis B virus infection and to explore the optimal strategy. A decision tree model was constructed according to the strategies of hepatitis B immunization and a Markov model was conducted to simulate the complex disease progress after HBV infection. Parameters in the models were drawn from meta-analysis and information was collected from field study and review of literature. Economic evaluation was performed to calculate costs, benefit, and the benefit-cost ratio. Sensitivity analysis was also conducted and a tornado graph was drawn. In view of the current six possible strategies in preventing maternal-infantile transmission of hepatitis B virus infection, a multi-stage decision tree model was constructed to screen hepatitis B surface antigen (HBsAg) or screen for HBsAg then hepatitis B e antigen (HBeAg). Dose and the number of injections of HBIG and hepatitis B vaccine were taken into consideration in the model. All the strategies were considered to be cost-saving, while the strategy of screening for HBsAg and then offering hepatitis B vaccine of 10 µg×3 for all neonates with hepatitis B immunoglobulin (HBIG) of 100 IU×1 for the neonates born to mothers who tested positive for HBsAg appeared with most cost-saving. In the strategies, the benefit-cost ratio of using 100 IU HBIG was similar to 200 IU HBIG, and one shot of HBIG was superior to two shots. from sensitivity analysis suggested that the rates of immunization and the efficacy of the strategy in preventing maternal-infantile transmission were the main sensitive variables in the model. The passive-active immune-prophylaxis strategy that using 10 µg hepatitis B vaccine combined with 100 IU HBIG seemed to be the optimal strategy in preventing maternal-infantile transmission, while the rates of immunization and the efficacy of the strategy played the key roles in

Malignancy in solitary thyroid nodule: A clinicoradiopathological evaluation.

PubMed

Jena, Amitabh; Patnayak, Rashmi; Prakash, Jaya; Sachan, Alok; Suresh, V; Lakshmi, Amarchala Yadagiri

2015-01-01

Thyroid nodules are common. They can be either benign or malignant. Solitary thyroid nodules (STN) have a high likelihood of being malignant. They should be characterized properly for optimum management. In this study, we have analyzed our departmental data over a period of 5 years. All the patients who presented to the outpatient department with a clinically detected STN were included in the study group. Our approach was individualized. Preoperative ultrasonography (USG) and fine-needle aspiration cytology were planned in all these patients. Hemi thyroidectomy and total thyroidectomy with and without neck dissection were performed wherever appropriate. There were 162 cases of clinically detected STN. USG findings were available in 146 cases. Postoperative histopathology was reported as malignant in 58 cases. Malignant STN was more likely in males. Ultrasonographically detected solid STN were more prone for malignancy as compared to multinodular goiter (P = 0.000) Presence of micro calcification and cervical lymphadenopathy were more commonly noted in malignant thyroid swellings. Solitary thyroid nodules do have a high likelihood of harboring a malignancy. Solid echogenicity, micro calcification and cervical lymphadenopathy on USG were seen more frequently in malignant nodules.

Infantile parkinsonism-dystonia: a dopamine “transportopathy”

PubMed Central

Blackstone, Craig

2009-01-01

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. PMID:19504720

[Hematologic malignancies in pregnancy].

PubMed

Doubek, R; Petrovová, D; Kalvodová, J; Doubek, M

2009-04-01

To summarize available data concerning hematologic malignancies in pregnancy. Review article. Department of Obstetrics and Gynekology, Fakulty of Medicine, Masaryk University and University Hospital Brno. Compilation of published data from scientific literature. Cancer complicating pregnancy is a rare coexistence. The incidence is approximately 1 in 1,000 pregnancies. The most frequent hematologic malignant tumor is Hodgkin's lymphoma, leukemia is less frequent and myeloproliferative diseases complicating pregnancy are sporadic coexistence. Symptoms of these deseases are often nonspecific and disguised in pregnancy, then the diagnosis can be late. It is imperative that a multidisciplinary team involving hematooncologist and obstetrician (pediatric specialist) care for patient with hematologic malignancies. Cleary, every patient have to know whole prognosis and all risk factors of treatment. Optimum timing of delivery is after 36th week of pregnancy (when chemotherapy is ended more than two weeks ago). We prefer vaginal delivery to caesarean section.

A phase II, open-label study of the efficacy and safety of imiquimod in the treatment of superficial and mixed infantile hemangioma.

PubMed

McCuaig, Catherine C; Dubois, Josée; Powell, Julie; Belleville, Claude; David, Michèle; Rousseau, Elisabeth; Gendron, Roxanne; Jafarian, Fatemeh; Auger, Isabelle

2009-01-01

To explore the efficacy and safety of imiquimod 5% cream as a treatment for infantile hemangioma. Phase II, open-label, noncomparative study of imiquimod applied during 16 weeks, with posttherapy follow-up 16 weeks later (8 months total). Outpatient pediatric tertiary care referral center in Quebec, Canada. Healthy infants up to 8.8 months of age with previously untreated, nonulcerated, proliferative superficial or mixed infantile hemangioma, excluding periorbital, or perineal localization, > or =100 cm2 in size. Topical imiquimod applied three to seven times per week for 16 weeks to infantile hemangioma. Lesion area, volume, depth (Doppler ultrasound), and color (erythema), serum drug, and interferon-alpha levels. Sixteen infants (11 girls, 5 boys) with a mean age at entry of 4.1 months and mean lesion area of 32.89 cm2, and volume of 39.98 cm3 were enrolled. Two participants discontinued treatment early, one for an adverse event (crying upon application), the other because of the lack of compliance. Local skin reactions were consistent with those reported in adults. Two cases had a decrease and three had an increase in lesion parameters; otherwise no meaningful changes in lesion area, volume, or depth were observed. At the 4-month posttreatment visit, 11 of 14 subjects had improvement in erythema (marginal homogeneity test = 2.668, p = 0.008). Measured serum drug and interferon-alpha levels were low or undetectable. Treatment of infants with infantile hemangioma with imiquimod up to seven times per week for 16 weeks was generally well tolerated with low systemic exposure. Improvement was observed in hemangioma coloration, but not lesion size, suggesting effects were limited to the superficial component.

Precursor Lesions of Urologic Malignancies.

PubMed

Khani, Francesca; Robinson, Brian D

2017-12-01

- Precursor lesions of urologic malignancies are established histopathologic entities, which are important not only to recognize for clinical purposes, but also to further investigate at the molecular level in order to gain a better understanding of the pathogenesis of these malignancies. - To provide a brief overview of precursor lesions to the most common malignancies that develop within the genitourinary tract with a focus on their clinical implications, histologic features, and molecular characteristics. - Literature review from PubMed, urologic pathology textbooks, and the 4th edition of the World Health Organization Classification of Tumours of the Urinary System and Male Genital Organs. All photomicrographs were taken from cases seen at Weill Cornell Medicine or from the authors' personal slide collections. - The clinical importance and histologic criteria are well established for the known precursor lesions of the most common malignancies throughout the genitourinary tract, but further investigation is warranted at the molecular level to better understand the pathogenesis of these lesions. Such investigation may lead to better risk stratification of patients and potentially novel treatments.

What's New in Malignant Mesothelioma Research and Treatment?

MedlinePlus

... and Treatment? Malignant Mesothelioma About Malignant Mesothelioma What’s New in Malignant Mesothelioma Research and Treatment? There is ... that has shown promise in some studies. Other new drugs have different targets. For example, some new ...

Infantile Nystagmus and Abnormalities of Conjugate Eye Movements in Down Syndrome.

PubMed

Weiss, Avery H; Kelly, John P; Phillips, James O

2016-03-01

Subjects with Down syndrome (DS) have an anatomical defect within the cerebellum that may impact downstream oculomotor areas. This study characterized gaze holding and gains for smooth pursuit, saccades, and optokinetic nystagmus (OKN) in DS children with infantile nystagmus (IN). Clinical data of 18 DS children with IN were reviewed retrospectively. Subjects with constant strabismus were excluded to remove any contribution of latent nystagmus. Gaze-holding, horizontal and vertical saccades to target steps, horizontal smooth pursuit of drifting targets, OKN in response to vertically or horizontally-oriented square wave gratings drifted at 15°/s, 30°/s, and 45°/s were recorded using binocular video-oculography. Seven subjects had additional optical coherence tomography imaging. Infantile nystagmus was associated with one or more gaze-holding instabilities (GHI) in each subject. The majority of subjects had a combination of conjugate horizontal jerk with constant or exponential slow-phase velocity, asymmetric or symmetric, and either monocular or binocular pendular nystagmus. Six of seven subjects had mild (Grade 0-1) persistence of retinal layers overlying the fovea, similar to that reported in DS children without nystagmus. All subjects had abnormal gains across one or more stimulus conditions (horizontal smooth pursuit, saccades, or OKN). Saccade velocities followed the main sequence. Down syndrome subjects with IN show a wide range of GHI and abnormalities of conjugate eye movements. We propose that these ocular motor abnormalities result from functional abnormalities of the cerebellum and/or downstream oculomotor circuits, perhaps due to extensive miswiring.

Infantile digital fibromatosis: a rare tumour of infancy. Report of five cases.

PubMed

Girgenti, Valentina; Restano, Lucia; Arcangeli, Fabio; Cambiaghi, Stefano; Gelmetti, Carlo

2012-11-01

Infantile digital fibromatosis (IDF) is a rare tumour of infancy with a typical clinical presentation and characteristic histopathological findings. Despite an alarming appearance, IDF does not cause deep infiltration or metastasis. The traditional approach of surgical resection was recently challenged by increasing evidence of self regression in months or years. We describe the clinical history of five patients with IDF that were followed in our departments for 5 years. © 2011 The Authors. Australasian Journal of Dermatology © 2011 The Australasian College of Dermatologists.

Adult preferences for infantile facial features: an ethological approach.

PubMed

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

1977-02-01

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.

[Epidemiologic situation in Ukraine, concerning malignant mesothelioma prevalence].

PubMed

Varivonchik, D V

2014-01-01

Malignant mesothelioma is an "indicator" tumor for evaluating public exposure to asbestos (mostly amphibolitic). Over 2001-2011 in Ukraine a total of 2645 cases of malignant mesothelioma was registered (annual number is 240.5 +/- 29.0 cases). 1 case of malignant mesothelioma per 457.4 tons of asbestos consumed by industry. Median annual levels of malignant mesothelioma morbidity in Ukraine (world standard): males--0.60; females--0.31 per 100,000 of general population. These levels are lower than worldwide (males--1.11; females--0.30) and Europaen WHO ones (males--1.53; female--0.37). Medians of malignant mesothelioma morbidity age are not different between males and females in Ukraine (males 59.5 +/- 13.2 years; females 62.6 +/- 13.1 years; p > 0.05). Most frequent location of malignant mesothelioma is on pleura (males 95.3%; females 89.8%). Now Ukraine is among the countries with low level (< 0.8 per 100,000 general population) and moderate (19.0-0.1% per year) increase of malignant mesothelioma morbidity in European WHO region. Up to 2025, the prognosis is of increased malignant mesothelioma morbidity in Ukraine to 0.97 [0.70-1.18] per 100,000 general population, and in European WHO region--to 2.68. Over 1992-2011, in Ukraine 3 cases of occupational malignant mesothelioma were diagnosed (2 cases of them were connected with occupational exposure to asbestos dust).

Cystic pancreatic tumors (CPT): predictors of malignant behavior.

PubMed

Javle, Milind; Shah, Pankaj; Yu, Jihnhee; Bhagat, Vishal; Litwin, Alan; Iyer, Renuka; Gibbs, John

2007-03-01

Due to widespread use of imaging studies, increasing cystic pancreatic tumor (CPT) cases are being detected. The diagnosis of malignancy in CPT cases requires pancreatectomy. Clinical and laboratory characteristics of CPT may predict underlying malignancy. CPT cases treated between 1994 and 2004 at our institution were included. Pseudocysts were excluded. Serous cystadenoma (SCA), mucinous cystadenoma (MCA), intrapapillary mucinous tumor, cystic endocrine tumor, and lymphoepithelial cysts were classified as benign or pre-malignant. Serous cystadenocarcinoma (SCACA), mucinous cystadenocarcinoma (MCACA), and adenocarcinoma (ACA) were classified as malignant. Thirty-five patients had histological confirmation. Median age was 65 years. Male/female ratio was higher in malignant group (P = 0.0284). Weight loss and abdominal mass were more prevalent in malignant group (P = 0.042 and 0.028, respectively). Malignant lesions were larger, associated with local invasion (superior mesenteric artery (SMA), superior mesenteric vein (SMV), portal vein (PV) complex or celiac encasement) and CA 19-9 elevation. On univariate analyses, local invasion (P = 0.0029), negative surgical intervention (P = 0.0010), presence of ACA (P = 0.0044), or malignant CPT (P = 0.0018) were associated with shorter survival. On a multivariate analysis, local invasion was associated with shorter survival [Hazard ratio (HR) = 4.322, P = 0.0218], while surgical intervention was associated with improved survival (HR = 0.179, P = 0.0124). Male sex, abdominal mass, weight loss, larger tumor size, local invasion, and elevated CA 19-9 were associated with malignant CPT.

Update on non-acquired immunodeficiency syndrome-defining malignancies.

PubMed

Chiao, Elizabeth Y; Krown, Susan E

2003-09-01

Since the introduction of highly active antiretroviral therapy (HAART), the natural history of human immunodeficiency virus (HIV) infection has changed. Early in the acquired immunodeficiency syndrome (AIDS) epidemic, epidemiologic studies showed that HIV-infected patients were at higher risk for developing specific AIDS-defining malignancies. More recent studies linking HIV/AIDS databases to cancer registries have shown that HIV-infected patients are also at higher risk of developing non-AIDS-defining malignancies. We review the most recent data regarding clinical presentation, pathology, and treatment outcomes for these non-AIDS-defining malignancies. Recent large cohort studies linking HIV/AIDS databases to cancer registries have shown that HIV-infected patients are also at higher risk of developing non-AIDS-defining malignancies. Besides anal cancer and Hodgkin disease, the cohort studies have identified other malignancies that appear to occur at a higher rate in the HIV-infected population as compared with the general population. These malignancies include lung cancer, skin cancer, germ cell tumors, leiomyosarcomas, cancers of the head and neck, conjunctival cancer, multiple myeloma, and leukemias. As the epidemiology of non-AIDS-defining malignancies continues to evolve, it is unclear whether the appropriate treatments and outcomes for these or other malignancies are changed for HIV-infected patients treated with HAART.

Epidemiologic overview of malignant lymphoma

PubMed Central

2012-01-01

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

PET/CT in paediatric malignancies - An update

PubMed Central

Padma, Subramanyam; Sundaram, Palaniswamy Shanmuga; Tewari, Anshu

2016-01-01

18F-fluorodeoxyglucose positron emission tomography (FDG-PET) is a well-established imaging modality in adult oncological practice. Its role in childhood malignancies needs to be discussed as paediatric malignancies differ from adults in tumor subtypes and they have different tumor biology and FDG uptake patterns. This is also compounded by smaller body mass, dosimetric restrictions, and physiological factors that can affect the FDG uptake. It calls for careful planning of the PET study, preparing the child, the parents, and expertise of nuclear physicians in reporting pediatric positron emission tomography/computed tomography (PET/CT) studies. In a broad perspective, FDG-PET/CT has been used in staging, assessment of therapy response, identifying metastases and as a follow-up tool in a wide variety of pediatric malignancies. This review outlines the role of PET/CT in childhood malignancies other than hematological malignancies such as lymphoma and leukemia. PMID:27688605

Markers of Oral Lichen Planus Malignant Transformation

PubMed Central

Tampa, Mircea; Mitran, Madalina; Mitran, Cristina; Matei, Clara; Georgescu, Simona-Roxana

2018-01-01

Oral lichen planus (OLP) is a chronic inflammatory disease of unknown etiology with significant impact on patients' quality of life. Malignant transformation into oral squamous cell carcinoma (OSCC) is considered as one of the most serious complications of the disease; nevertheless, controversy still persists. Various factors seem to be involved in the progression of malignant transformation; however, the mechanism of this process is not fully understood yet. Molecular alterations detected in OLP samples might represent useful biomarkers for predicting and monitoring the malignant progression. In this review, we discuss various studies which highlight different molecules as ominous predictors of OLP malignant transformation. PMID:29682099

Thrombosis of the inferior vena cava and malignant disease.

PubMed

Kraft, Christiane; Schuettfort, Gundolf; Weil, Yvonne; Tirneci, Vanessa; Kasper, Alexander; Haberichter, Barbara; Schwonberg, Jan; Schindewolf, Marc; Lindhoff-Last, Edelgard; Linnemann, Birgit

2014-09-01

Inferior vena cava thrombosis (IVCT) is a rare event, and studies detailing its underlying aetiologies are scarce. One hundred and forty-one IVCT patients (57% females, median age 47 years) were analysed with a focus on malignancy-related thrombosis and compared with 141 age- and sex-matched control patients with isolated lower-extremity deep vein thrombosis. Malignancies were more prevalent among IVCT patients compared with the control group (39% vs. 7.8%; P<0.001). Malignancy-related IVCT more frequently involved the suprarenal and hepatic segments of the IVC and extended more often to the right atrium than IVCT did in non-cancer patients. Among IVCT patients with malignancies, renal cell carcinoma (38%) and other malignancies of the genitourinary tract (25%) were the most common tumours. Analysis of the underlying pathological mechanisms of malignancy-related thrombosis identified external compression of the IVC by tumour masses in 9 cases (16%), and progression of malignancy into the IVC (so-called "tumour thrombosis") in 24 cases (44%). The remaining 22 cases (40%) were attributed to malignancy-related hypercoagulability and the presence of additional venous thromboembolism risk factors, such as previous surgery, immobilisation, or chemotherapy. Malignancies substantially contribute to the risk of thrombosis involving the IVC. Tumour invasion, especially in cases of renal cell cancer and malignancy-related hypercoagulability are major triggering factors for thrombogenesis. Copyright © 2014. Published by Elsevier Ltd.

Pain-relieving agents for infantile colic.

PubMed

Biagioli, Elena; Tarasco, Valentina; Lingua, Carla; Moja, Lorenzo; Savino, Francesco

2016-09-16

Infantile colic is a common disorder in the first months of life, affecting somewhere between 4% and 28% of infants worldwide, depending on geography and definitions used. Although it is self limiting and resolves by four months of age, colic is perceived by parents as a problem that requires action. Pain-relieving agents, such as drugs, sugars and herbal remedies, have been suggested as interventions to reduce crying episodes and severity of symptoms. To assess the effectiveness and safety of pain-relieving agents for reducing colic in infants younger than four months of age. We searched the following databases in March 2015 and again in May 2016: CENTRAL, Ovid MEDLINE, Embase and PsycINFO, along with 11 other databases. We also searched two trial registers, four thesis repositories and the reference lists of relevant studies to identify unpublished and ongoing studies. We included randomised controlled trials (RCTs) and quasi-RCTs evaluating the effects of pain-relieving agents given to infants with colic. We used the standard methodological procedures of The Cochrane Collaboration. We included 18 RCTs involving 1014 infants. All studies were small and at high risk of bias, often presenting major shortcomings across multiple design factors (e.g. selection, performance, attrition, lack of washout period).Three studies compared simethicone with placebo, and one with Mentha piperita; four studies compared herbal agents with placebo; two compared sucrose or glucose with placebo; five compared dicyclomine with placebo; and two compared cimetropium - one against placebo and the other at two different dosages. One multiple-arm study compared sucrose and herbal tea versus no treatment. Simethicone. Comparison with placebo revealed no difference in daily hours of crying reported for simethicone at the end of treatment in one small, low-quality study involving 27 infants. A meta-analysis of data from two cross-over studies comparing simethicone with placebo showed no

Hypocalcaemia of malignancy.

PubMed

Schattner, A; Dubin, I; Huber, R; Gelber, M

2016-07-01

Hypercalcaemia of malignancy is well recognised, but hypocalcaemia in cancer patients is not, although it is increasingly encountered. Analysis of an exemplary case and a narrative review of the literature based on the search terms cancer and hypocalcaemia. Hypocalcaemia may affect as many as 10% of hospitalised cancer patients. We identified 12 different potential mechanisms of hypocalcaemia of malignancy. Identifying the pathogenesis is essential for the correct treatment and can usually be performed at the bedside, based on serum parathyroid hormone (PTH) levels, creatinine, phosphate, magnesium, creatine kinase, liver enzymes and 25(OH)D. Essentially, decreased or normal PTH hypocalcaemia is seen after removal or destruction of its source, hypomagnesaemia, or cinacalcet treatment. In all other cancer-associated hypocalcaemia, PTH is elevated, including significant renal impairment, critically ill patients, extensive cell destruction (rhabdomyolysis, tumour lysis, haemolysis), acute pancreatitis, adverse drug reactions, cancer or cancer treatment-related malabsorption syndromes, vitamin D deficiency, or osteoblastic metastases. Different mechanisms may often operate in tandem. Pathogenesis determines treatment and affects prognosis. However, hypocalcaemia of malignancy as such did not imply a worse prognosis, in contrast with hypercalcaemia. Hypocalcaemia in cancer patients is commonly encountered, particularly in hospitalised patients, may be mediated by diverse mechanisms and should be better recognised.

Ewing's Sarcoma as a Second Malignancy in Long-Term Survivors of Childhood Hematologic Malignancies.

PubMed

Wolpert, Fabian; Grotzer, Michael A; Niggli, Felix; Zimmermann, Dieter; Rushing, Elisabeth; Bode-Lesniewska, Beata

2016-01-01

Modern multimodal treatment has significantly increased survival for patients affected by hematologic malignancies, especially in childhood. Following remission, however, the risk of developing a further malignancy is an important issue. The long-term estimated risk of developing a sarcoma as a secondary malignancy is increased severalfold in comparison to the general population. Ewing's sarcoma family encompasses a group of highly aggressive, undifferentiated, intra- and extraosseous, mesenchymal tumors, caused by several types of translocations usually involving the EWSR1 gene. Translocation associated sarcomas, such as Ewing sarcoma, are only rarely encountered as therapy associated secondary tumors. We describe the clinical course and management of three patients from a single institution with Ewing's sarcoma that followed successfully treated lymphoblastic T-cell leukemia or non-Hodgkin lymphoma. The literature on secondary Ewing's sarcoma is summarized and possible pathogenic mechanisms are critically discussed.

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

ClinicalTrials.gov

2017-12-11

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

A Tale of Treatable Infantile Neuroregression and Diagnostic Dilemma with Glutaric Aciduria Type I

PubMed Central

Yoganathan, Sangeetha; Varman, Mugil; Oommen, Samuel Philip; Thomas, Maya

2017-01-01

Nutritional deficiencies related neurological manifestations are not uncommon in infants and children. Here, we describe an infant with Vitamin B12 deficiency due to depleted maternal Vitamin B12 status presenting with progressive encephalopathy and extrapyramidal signs. Diagnosis of infantile tremor syndrome was established in our patient based on the clinical and biochemical parameters. Magnetic resonance imaging had shown frontotemporal atrophy with widened Sylvian fissures and prominent cerebrospinal fluid spaces. Clinical and imaging findings might create a diagnostic dilemma with glutaric aciduria type I. Knowledge and identification of infantile tremor syndrome are essential, as it is a potentially treatable disorder. Our patient had significant developmental gains with Vitamin B12 treatment and infant stimulation program. Vitamin B12 deficiency must be looked for as a cause of neuroregression in children hailing from low socioeconomic status, infants of vegetarian mother, and infants with delayed or improper weaning. Screening for Vitamin B12 deficiency is essential in all infants and children with unexplained neuroregression, as this disorder is potentially treatable. More population-based studies in India are needed to explore the prevalence of Vitamin B12 deficiency in pregnant and lactating women and also to assess the need for Vitamin B12 supplementation during pregnancy and lactation. PMID:29675077

A Tale of Treatable Infantile Neuroregression and Diagnostic Dilemma with Glutaric Aciduria Type I.

PubMed

Yoganathan, Sangeetha; Varman, Mugil; Oommen, Samuel Philip; Thomas, Maya

2017-01-01

Nutritional deficiencies related neurological manifestations are not uncommon in infants and children. Here, we describe an infant with Vitamin B12 deficiency due to depleted maternal Vitamin B12 status presenting with progressive encephalopathy and extrapyramidal signs. Diagnosis of infantile tremor syndrome was established in our patient based on the clinical and biochemical parameters. Magnetic resonance imaging had shown frontotemporal atrophy with widened Sylvian fissures and prominent cerebrospinal fluid spaces. Clinical and imaging findings might create a diagnostic dilemma with glutaric aciduria type I. Knowledge and identification of infantile tremor syndrome are essential, as it is a potentially treatable disorder. Our patient had significant developmental gains with Vitamin B12 treatment and infant stimulation program. Vitamin B12 deficiency must be looked for as a cause of neuroregression in children hailing from low socioeconomic status, infants of vegetarian mother, and infants with delayed or improper weaning. Screening for Vitamin B12 deficiency is essential in all infants and children with unexplained neuroregression, as this disorder is potentially treatable. More population-based studies in India are needed to explore the prevalence of Vitamin B12 deficiency in pregnant and lactating women and also to assess the need for Vitamin B12 supplementation during pregnancy and lactation.

Leuloplakia - Review of A Potentially Malignant Disorder

PubMed Central

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

2014-01-01

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

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

EPA Science Inventory

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

De novo malignancy after pancreas transplantation in Japan.

PubMed

Tomimaru, Y; Ito, T; Marubashi, S; Kawamoto, K; Tomokuni, A; Asaoka, T; Wada, H; Eguchi, H; Mori, M; Doki, Y; Nagano, H

2015-04-01

Long-term immunosuppression is associated with an increased risk of cancer. Especially, the immunosuppression in pancreas transplantation is more intensive than that in other organ transplantation because of its strong immunogenicity. Therefore, it suggests that the risk of post-transplant de novo malignancy might increase in pancreas transplantation. However, there have been few studies of de novo malignancy after pancreas transplantation. The aim of this study was to analyze the incidence of de novo malignancy after pancreas transplantation in Japan. Post-transplant patients with de novo malignancy were surveyed and characterized in Japan. Among 107 cases receiving pancreas transplantation in Japan between 2001 and 2010, de novo malignancy developed in 9 cases (8.4%): post-transplant lymphoproliferative disorders in 6 cases, colon cancer in 1 case, renal cancer in 1 case, and brain tumor in 1 case. We clarified the incidence of de novo malignancy after pancreas transplantation in Japan. Copyright © 2015 Elsevier Inc. All rights reserved.

Paraspinal tuberculosis mimicking malignancy.

PubMed

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

2013-12-01

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

Intercellular crosstalk in human malignant melanoma.

PubMed

Dvořánková, Barbora; Szabo, Pavol; Kodet, Ondřej; Strnad, Hynek; Kolář, Michal; Lacina, Lukáš; Krejčí, Eliška; Naňka, Ondřej; Šedo, Aleksi; Smetana, Karel

2017-05-01

Incidence of malignant melanoma is increasing globally. While the initial stages of tumors can be easily treated by a simple surgery, the therapy of advanced stages is rather limited. Melanoma cells spread rapidly through the body of a patient to form multiple metastases. Consequently, the survival rate is poor. Therefore, emphasis in melanoma research is given on early diagnosis and development of novel and more potent therapeutic options. The malignant melanoma is arising from melanocytes, cells protecting mitotically active keratinocytes against damage caused by UV light irradiation. The melanocytes originate in the neural crest and consequently migrate to the epidermis. The relationship between the melanoma cells, the melanocytes, and neural crest stem cells manifests when the melanoma cells are implanted to an early embryo: they use similar migratory routes as the normal neural crest cells. Moreover, malignant potential of these melanoma cells is overdriven in this experimental model, probably due to microenvironmental reprogramming. This observation demonstrates the crucial role of the microenvironment in melanoma biology. Indeed, malignant tumors in general represent complex ecosystems, where multiple cell types influence the growth of genetically mutated cancer cells. This concept is directly applicable to the malignant melanoma. Our review article focuses on possible strategies to modify the intercellular crosstalk in melanoma that can be employed for therapeutic purposes.

The presence of dysplastic nevus remnants in malignant melanomas. A population-based study of 551 malignant melanomas.

PubMed

Hastrup, N; Osterlind, A; Drzewiecki, K T; Hou-Jensen, K

1991-08-01

We examined 512 malignant melanomas, representing all newly diagnosed cutaneous malignant melanomas, excluding lentigo maligna melanomas, from the period October 1, 1982 to March 31, 1985 occurring in the region of eastern Denmark in patients aged 20-79 years for the presence of dysplastic nevus remnants. Criteria for the diagnosis of a dysplastic nevus remnant include all the following changes (a) lentiginous or epithelioid melanocyte hyperplasia, (b) cytologic melanocyte atypia, (c) eosinophilic fibroplasia, (d) lamellar fibroplasia, and (e) lymphocytic infiltration in the dermis. Dysplastic nevus remnants were found in association with 34 (7%) of the evaluable 512 malignant melanomas. Fourteen (41%) of the remnants were of compound nevus type. In nine (27%) of the remnants, atypia was pronounced. Most (62%) dysplastic nevus remnants were contiguous to thin superficial spreading melanomas. We conclude from this population-based study that about 7% of malignant melanomas arise in prior dysplastic nevi.

Reduced-intensity conditioning for the treatment of malignant and life-threatening non-malignant disorders.

PubMed

Slavin, Shimon; Aker, Mehmet; Shapira, Michael Y; Resnick, Igor; Bitan, Menachem; Or, Reuven

2003-01-01

Allogeneic bone marrow or blood stem cell transplantation (BMT) represents an important therapeutic tool for the treatment of an otherwise incurable broad spectrum of malignant and non-malignant diseases. Until recently, BMT was used primarily to replace a malignant, genetically abnormal or deficient immunohematopoietic compartment and therefore, highly toxic myeloablative regimens were considered mandatory for more effective eradication of all undesirable host-derived hematopoietic cells, including stem cells and their progeny. Our preclinical and ongoing clinical studies indicated that much more effective eradication of host immunohematopoietic system cells can be mediated by donor lymphocytes in the process of adoptive allogeneic cell therapy following BMT. Thus, eradication of all malignant cells, especially in patients with CML and, to a lesser extent, in patients with other hematologic malignancies can be accomplished despite complete resistance of puch tumor cells to maximally tolerated doses of chemoradiotherapy. Our cumulative experience suggested that graft-versus-malignancy effects might be used as a tool for eradication of otherwise resistant tumor cells of host origin. We speculated that the therapeutic benefit of BMT may be improved by using safer conditioning for engraftment of donor stem cells induce host-versus-graft unresponsiveness to enable engraftment of donor lymphocytes for subsequent induction of graft-versus-malignancy effects, or even graft-versus-autoimmunity and graft-versus-genetically abnormal cells. In other words, focusing on more selective and smarter rather than stronger modalities. Effective BMT procedures may be accomplished without lethal conditioning of the host, using a new, well-tolerated and user-friendly non-myeloablative regimen, thus eliminating or minimizing immediate and late procedure-related toxicity and mortality. It appears that initial induction of graft tolerance, mediated by engraftment of donor stem cells, leads

[Primary Malignant Melanoma of the Gallbladder].

PubMed

Ujiie, Daisuke; Miyamoto, Kotaro; Onozawa, Hisashi; Hoshi, Nobuhiro; Nakayama, Koichi; Urazumi, Kojiro; Takenoshita, Seiichi; Kusakabe, Takashi

2016-11-01

Primary malignant melanoma of the gallbladder is a rare disease, and 37 cases have been reported in the literature.The current patient was a 78-year-old man who was admitted with a pelvic tumor and left leg edema due to compression of the external iliac vein by the pelvic tumor.The edema improved following resection of the tumor, which was diagnosed at pathology as a malignant melanoma.After surgery, the patient became anorexic and complained of discomfort in the upper right abdomen.A whole body FDG-PET scan demonstrated significant uptake in the gallbladder and in the lymph nodes of the lower abdomen.The patient underwent open cholecystectomy, and the pathological diagnosis was malignant melanoma. Junctional activity was seen in the gallbladder, suggesting that this was the primary site.No melanocytic lesions of the skin or eyes were detected, further supporting the diagnosis of primary malignant melanoma of the gallbladder.Chemotherapy was initiated, but the patient died on February 28, 2016.

Synchronous Pulmonary Malignancies: Atypical Presentation of Mantle Cell Lymphoma Masking a Lung Malignancy.

PubMed

Masha, Luke; Zinchuk, Andrey; Boosalis, Valia

2015-09-07

We present a case of a pleural space malignancy masked by an atypical presentation of mantle cell lymphoma. Our patient presented with a large pleural effusion and right sided pleural studding, initially attributed to a new diagnosis of mantle cell lymphoma. Rare atypical epithelial cells were also seen amongst the clonal population of lymphocytes. The patient lacked systemic manifestations of mantle cell lymphoma and did not improve with chemotherapy. A pleural biopsy ultimately revealed the presence of an undifferentiated carcinoma, favoring a lung primary. A discussion of synchronous pleural space malignancies involving lymphomas is given.

[Case report: Neuroleptic malignant syndrome and diagnostic difficulties].

PubMed

Khouri, C; Planès, S; Logerot, S; Villier, C; Mallaret, M

2016-06-01

Neuroleptic malignant syndrome (NMS) is an uncommon but potentially fatal adverse effect of neuroleptic drugs. It is commonly characterized by muscular rigidity, fever, altered mental status, and autonomic dysfunction. Emerging of NMS is possible with all neuroleptics, classic and atypical. NMS occurs most often during the first week of treatment or after increasing the dosage of the neuroleptic medication. The frequency of NMS ranges from 0.07 to 2.2%. Its pathophysiology is not clearly understood but the blockade of dopamine receptors appears to be the central mechanism. Issues of NMS are those of diagnosis, treatment and reintroduction of antipsychotic treatment or not. We here present an interesting case because of its atypical clinical presentation and its slow resolution, illustrating the various problems linked to the NMS. A 55-year-old woman with a history of mental retardation and infantile psychosis is hospitalized for worsening of her psychiatric symptoms. She is treated by risperidone long-acting injection every 2weeks, escitalopram 20 mg/d and oxazepam 10 mg/d. Early December 2012, she had fever spikes treated with many antibiotics and neuroleptics were stopped, without improvement. Early January 2013, a pulmonary embolism was diagnosed, and a treatment with loxapine is introduced and her injection of risperidone is done because of the state of agitation of the patient. Two weeks later, a NMS is suspected to hyperthermia, tremor of the limbs, a slight stiffness, and neuroleptics are stopped. Dantrolene is then introduced, but after 7days of treatment the fever is still important. Other assumptions are then discussed: infection, serotonin syndrome, encephalopathy, catatonia, malignant hyperthermia. But diagnosis of NMS is finally retained because of the recurrence of symptoms after introduction of clozapine early February. In this patient, diagnosis was made more difficult by the use of long-acting neuroleptic. NMS was indeed partly rejected because

Malignancy, weight loss, and the small intestinal mucosa

PubMed Central

Barry, R. E.

1974-01-01

The mucosal architecture and mucosal dynamics of the small bowel have been studied in patients with malignant disease not of the gastrointestinal tract but associated with severe weight loss. Mucosal changes in malignant disease are demonstrated by stereomicroscopy, mucosal architectural measurement, and decreased lactose utilization. Measurement of the epithelial DNA loss rate indicates, in association with mucosal measurement, that the architectural changes are caused by a hypoplasia of the epithelium. Similar findings are demonstrated in patients with profound weight loss due to other non-malignant wasting diseases. Although mucosal changes undoubtedly occur in malignant disease, the changes are not specific for malignancy and the concept of `cancer enteropathy' is not tenable. It is suggested that mucosal changes are the effect of and not the cause of cachexia. ImagesFig 1 PMID:4430474

Minimal-change nephropathy and malignant thymoma.

PubMed

Varsano, S; Bruderman, I; Bernheim, J L; Rathaus, M; Griffel, B

1980-05-01

A 56-year-old man had fever, precordial pain, and a mediastinal mass. The mass disappeared two months later and the patient remained asymptomatic for 2 1/2 years. At that time a full-blown nephrotic syndrome developed, with minimal-change glomerulopathy. The chest x-ray film showed the reappearance of a giant mediastinal mass. On biopsy of the mass, malignant thymoma was diagnosed. Association between minimal-change disease and Hodgkin's disease is well known, while the association with malignant thymoma has not been previously reported. The relationship between malignant thymoma and minimal-change disease is discussed, and a possible pathogenic mechanism involving cell-mediated immunity is proposed.

Malignant neurocristic hamartoma: a tumor distinct from conventional melanoma and malignant blue nevus.

PubMed

Linskey, Katy R; Dias-Santagata, Dora; Nazarian, Rosalynn M; Le, Long P; Lam, Quynh; Bellucci, Kirsten S W; Robinson-Bostom, Leslie; Mihm, Martin C; Hoang, Mai P

2011-10-01

Neurocristic hamartomas are rare pigmented lesions comprised of melanocytes, Schwann cells, and pigmented dendritic spindle cells that involve the skin and soft tissue. Malignant transformation can rarely arise within neurocristic hamartomas. Up to date, there has been only 1 series of 7 cases of malignant neurocristic hamartomas (MNHs), with 3 cases that developed metastases. We present the histology and clinical course of 3 additional cases of MNH, 2 of which were metastatic. CD117 was strongly positive in all cases with available archival materials--the tumors and background neurocristic hamartoma of 3 cases, and 1 lymph node metastasis; however, KIT sequencing for exons 11, 13, 17, and 18 was negative. Mutational analyses of recurrent mutations of 17 cancer genes, including BRAF and KIT, were also negative. Although our series is small, KIT overexpression in MNH does not seem to correlate with gene mutation. The lack of BRAF, NRAS, GNAQ, and KIT mutations seems to support the notion that MNH may be distinct from conventional melanoma and from other dermal melanomas, such as malignant blue nevi and melanoma arising in congenital nevi.

Potentially malignant oral lesions: clinicopathological correlations

PubMed Central

Maia, Haline Cunha de Medeiros; Pinto, Najara Alcântara Sampaio; Pereira, Joabe dos Santos; de Medeiros, Ana Miryam Costa; da Silveira, Éricka Janine Dantas; Miguel, Márcia Cristina da Costa

2016-01-01

ABSTRACT Objective To determine the incidence of potentially malignant oral lesions, and evaluate and correlate their clinical and pathological aspects. Methods The sample consisted of cases clinically diagnosed as oral leukoplakia, oral erythroplakia, erythroleukoplakia, actinic cheilitis, and oral lichen planus treated at a diagnostic center, between May 2012 and July 2013. Statistical tests were conducted adopting a significance level of 5% (p≤0.05). Results Out of 340 patients, 106 (31.2%) had potentially malignant oral lesions; and 61 of these (17.9%) were submitted to biopsy. Actinic cheilitis was the most frequent lesion (37.5%) and the lower lip was the most affected site (49.6%). Among 106 patients in the sample, 48 (45.3%) reported nicotine consumption, 35 (33%) reported alcohol intake and 34 (32.1%) sun exposure while working. When clinical and histopathological diagnoses were compared, oral erythroplakia and atypical ulcer were the lesions that exhibited greater compatibility (100% each). Conclusion In most cases, clinical and histopathological diagnoses were compatible. An association between the occurrence of erythroplakia, leukoplakia and erythroleukoplakia with smoking was observed. Similarly, an association between actinic cheilitis and sun exposure was noted. Erythroleukoplakia presented the highest malignancy grade in this study. Finally, dental surgeons should draw special attention to diagnosis of potentially malignant oral lesions, choose the best management, and control the lesions to avoid their malignant transformation. PMID:27074232

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

ERIC Educational Resources Information Center

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

2008-01-01

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

The ESR1 and GPX1 gene expression level in human malignant and non-malignant breast tissues.

PubMed

Król, Magdalena B; Galicki, Michał; Grešner, Peter; Wieczorek, Edyta; Jabłońska, Ewa; Reszka, Edyta; Morawiec, Zbigniew; Wąsowicz, Wojciech; Gromadzińska, Jolanta

2018-01-01

The aim of this study was to establish whether the gene expression of estrogen receptor alpha (encoded by ESR1) correlates with the expression of glutathione peroxidase 1 (encoded by GPX1) in the tumor and adjacent tumor-free breast tissue, and whether this correlation is affected by breast cancer. Such relationships may give further insights into breast cancer pathology with respect to the status of estrogen receptor. We used the quantitative real-time PCR technique to analyze differences in the expression levels of the ESR1 and GPX1 genes in paired malignant and non-malignant tissues from breast cancer patients. ESR1 and GPX1 expression levels were found to be significantly down-regulated by 14.7% and 7.4% (respectively) in the tumorous breast tissue when compared to the non-malignant one. Down-regulation of these genes was independent of the tumor histopathology classification and clinicopathological factors, while the ESR1 mRNA level was reduced with increasing tumor grade (G1: 103% vs. G2: 85.8% vs. G3: 84.5%; p<0.05). In the non-malignant and malignant breast tissues, the expression levels of ESR1 and GPX1 were significantly correlated with each other (Rs=0.450 and Rs=0.360; respectively). Our data suggest that down-regulation of ESR1 and GPX1 was independent of clinicopathological factors. Down-regulation of ESR1 gene expression was enhanced by the development of the disease. Moreover, GPX1 and ESR1 gene expression was interdependent in the malignant breast tissue and further work is needed to determine the mechanism underlying this relationship.

Secondary malignancy following radiotherapy for thyroid eye disease.

PubMed

Gillis, Christopher C; Chang, Eun Hae; Al-Kharazi, Khalid; Pickles, Tom

2016-01-01

To describe the first case of a secondary meningioma in a patient after radiation treatment for thyroid eye disease (TED). Secondarily to identify any additional cases of secondary malignancy resulting from radiotherapy for thyroid eye disease from our institutional experience. Thyroid eye disease (TED) is a self-limiting auto-immune disorder causing expansion of orbital soft tissue from deposition of glycosaminoglycans and collagen, leading to significant cosmetic and functional morbidity. Established management options for TED include: glucocorticosteroids, orbital radiotherapy, and surgical orbital decompression. Two large series on radiotherapy for TED have been reported without any cases of secondary malignancy. The case of a patient with visual failure, found to have a sphenoid wing meningioma after previous TED radiotherapy is described. We then reviewed 575 patients with at least 3-year follow-up receiving radiotherapy for TED at British Columbia Cancer Agency to identify other possible secondary malignancies. The patient had postoperative improvement in her vision without any identified complications. Three additional cases of hematologic malignancy were identified. The calculated risk in our population of developing a radiation-induced meningioma after TED with at least 3 years of follow-up of is 0.17% (1/575); with hematopoetic malignancies the risk for secondary malignancy is 0.7% (4/575). Our calculated risk for secondary malignancy (0.17%, 0.7%) is similar to the reported theoretical risk published in the literature (0.3-1.2%). There is real risk for the development of a secondary malignancy after radiotherapy treatment of TED and treatment options should include consideration for this potential.

Gene Expression Profiling of Benign and Malignant Pheochromocytoma

PubMed Central

BROUWERS, FREDERIEKE M.; ELKAHLOUN, ABDEL G.; MUNSON, PETER J.; EISENHOFER, GRAEME; BARB, JENNIFER; LINEHAN, W. MARSTON; LENDERS, JACQUES W.M.; DE KRIJGER, RONALD; MANNELLI, MASSIMO; UDELSMAN, ROBERT; OCAL, IDRIS T.; SHULKIN, BARRY L.; BORNSTEIN, STEFAN R.; BREZA, JAN; KSINANTOVA, LUCIA; PACAK, KAREL

2016-01-01

There are currently no reliable diagnostic and prognostic markers or effective treatments for malignant pheochromocytoma. This study used oligonucleotide microarrays to examine gene expression profiles in pheochromocytomas from 90 patients, including 20 with malignant tumors, the latter including metastases and primary tumors from which metastases developed. Other subgroups of tumors included those defined by tissue norepinephrine compared to epinephrine contents (i.e., noradrenergic versus adrenergic phenotypes), adrenal versus extra-adrenal locations, and presence of germline mutations of genes pre-disposing to the tumor. Correcting for the confounding influence of nora-drenergic versus adrenergic catecholamine phenotype by the analysis of variance revealed a larger and more accurate number of genes that discriminated benign from malignant pheochromocytomas than when the confounding influence of catecholamine phenotype was not considered. Seventy percent of these genes were underexpressed in malignant compared to benign tumors. Similarly, 89% of genes were underexpressed in malignant primary tumors compared to benign tumors, suggesting that malignant potential is largely characterized by a less-differentiated pattern of gene expression. The present database of differentially expressed genes provides a unique resource for mapping the pathways leading to malignancy and for establishing new targets for treatment and diagnostic and prognostic markers of malignant disease. The database may also be useful for examining mechanisms of tumorigenesis and genotype–phenotype relationships. Further progress on the basis of this database can be made from follow-up confirmatory studies, application of bioinformatics approaches for data mining and pathway analyses, testing in pheochromocytoma cell culture and animal model systems, and retrospective and prospective studies of diagnostic markers. PMID:17102123

The androgen receptor malignancy shift in prostate cancer.

PubMed

Copeland, Ben T; Pal, Sumanta K; Bolton, Eric C; Jones, Jeremy O

2018-05-01

Androgens and the androgen receptor (AR) are necessary for the development, function, and homeostatic growth regulation of the prostate gland. However, once prostate cells are transformed, the AR is necessary for the proliferation and survival of the malignant cells. This change in AR function appears to occur in nearly every prostate cancer. We have termed this the AR malignancy shift. In this review, we summarize the current knowledge of the AR malignancy shift, including the DNA-binding patterns that define the shift, the transcriptome changes associated with the shift, the putative drivers of the shift, and its clinical implications. In benign prostate epithelial cells, the AR primarily binds consensus AR binding sites. In carcinoma cells, the AR cistrome is dramatically altered, as the AR associates with FOXA1 and HOXB13 motifs, among others. This shift leads to the transcription of genes associated with a malignant phenotype. In model systems, some mutations commonly found in localized prostate cancer can alter the AR cistrome, consistent with the AR malignancy shift. Current evidence suggests that the AR malignancy shift is necessary but not sufficient for transformation of prostate epithelial cells. Reinterpretation of prostate cancer genomic classification systems in light of the AR malignancy shift may improve our ability to predict clinical outcomes and treat patients appropriately. Identifying and targeting the molecular factors that contribute to the AR malignancy shift is not trivial but by doing so, we may be able to develop new strategies for the treatment or prevention of prostate cancer. © 2018 Wiley Periodicals, Inc.

Dose and dose rate extrapolation factors for malignant and non-malignant health endpoints after exposure to gamma and neutron radiation.

PubMed

Tran, Van; Little, Mark P

2017-11-01

Murine experiments were conducted at the JANUS reactor in Argonne National Laboratory from 1970 to 1992 to study the effect of acute and protracted radiation dose from gamma rays and fission neutron whole body exposure. The present study reports the reanalysis of the JANUS data on 36,718 mice, of which 16,973 mice were irradiated with neutrons, 13,638 were irradiated with gamma rays, and 6107 were controls. Mice were mostly Mus musculus, but one experiment used Peromyscus leucopus. For both types of radiation exposure, a Cox proportional hazards model was used, using age as timescale, and stratifying on sex and experiment. The optimal model was one with linear and quadratic terms in cumulative lagged dose, with adjustments to both linear and quadratic dose terms for low-dose rate irradiation (<5 mGy/h) and with adjustments to the dose for age at exposure and sex. After gamma ray exposure there is significant non-linearity (generally with upward curvature) for all tumours, lymphoreticular, respiratory, connective tissue and gastrointestinal tumours, also for all non-tumour, other non-tumour, non-malignant pulmonary and non-malignant renal diseases (p < 0.001). Associated with this the low-dose extrapolation factor, measuring the overestimation in low-dose risk resulting from linear extrapolation is significantly elevated for lymphoreticular tumours 1.16 (95% CI 1.06, 1.31), elevated also for a number of non-malignant endpoints, specifically all non-tumour diseases, 1.63 (95% CI 1.43, 2.00), non-malignant pulmonary disease, 1.70 (95% CI 1.17, 2.76) and other non-tumour diseases, 1.47 (95% CI 1.29, 1.82). However, for a rather larger group of malignant endpoints the low-dose extrapolation factor is significantly less than 1 (implying downward curvature), with central estimates generally ranging from 0.2 to 0.8, in particular for tumours of the respiratory system, vasculature, ovary, kidney/urinary bladder and testis. For neutron exposure most endpoints, malignant

A rapid and convenient method for detecting a broad spectrum of malignant cells from malignant pleuroperitoneal effusion of patients using a multifunctional NIR heptamethine dye.

PubMed

Tian, Ying; Sun, Jing; Yan, Huaijiang; Teng, Zhaogang; Zeng, Leyong; Liu, Ying; Li, Yanjun; Wang, Jiandong; Wang, Shouju; Lu, Guangming

2015-02-07

Detection of malignant cells from malignant effusion is crucial to establish or adjust therapies of patients with cancer. The conventional qualitative detection in malignant pleuroperitoneal effusion is cytological analysis, which is time-consuming and complicated. Therefore, a faster and more convenient detection strategy is urgently needed. In this study, we report a rapid method to detect malignant cells from malignant pleuroperitoneal effusion (hydrothorax and ascites) of patients using IR-808, a tumor-targeted near-infrared (NIR) fluorescent heptamethine dye (tNRI dye), which exhibited superior labeling efficacy without specific conjugation to biomarkers. The targeted imaging performance toward malignant cells using IR-808 was confirmed by comparing with normal cells, and the fluorescence stability assay of IR-808 in malignant effusion was performed from 1 h to 48 h. In order to save time and dose, the incubation time and concentration were optimized to 10 min and 5 μM, which were used to detect malignant cells from 28 clinical samples of malignant pleuroperitoneal effusion. The results revealed that IR-808 could be internalized selectively by malignant cells of samples, and these malignant cells could be easily distinguished from normal cells under a fluorescence microscope. The positive rates between cytological analysis and the IR-808 staining method were 86% (24/28) and 79% (22/28), respectively. An excellent concordance level (Kappa = 0.752, P < 0.001) was observed between the two methods. Our results indicated that IR-808, a new NIR fluorescent heptamethine dye with unique optical imaging and tumor targeting properties, could provide a fast and simple way to detect a broad spectrum of malignant cells from malignant pleuroperitoneal effusion in patients.

Skull infarction in a patient with malignant fibrous histiocytoma.

PubMed

Nagle, C E; Morayati, S J; LeDuc, M A

1987-09-01

The authors describe a case of a skull infarction initially suspected to be an isolated, remote metastasis in a patient diagnosed with soft tissue malignant fibrous histiocytoma. Osseous malignant fibrous histiocytoma has been reported to occur within a bone infarction but the presence of a benign bone infarction remote from a soft tissue malignant fibrous histiocytoma has not been reported previously. Bone infarctions and malignant fibrous histiocytomas are briefly reviewed.

Comparison between medial rectus pulley fixation and augmented recession in children with convergence excess and variable-angle infantile esotropia.

PubMed

Fouad, Heba M; Abdelhakim, Mohamad A; Awadein, Ahmed; Elhilali, Hala

2016-10-01

To compare the outcomes of medial rectus (MR) muscle pulley fixation and augmented recession in children with convergence excess esotropia and variable-angle infantile esotropia. This was a prospective randomized interventional study in which children with convergence excess esotropia or variable-angle infantile esotropia were randomly allocated to either augmented MR muscle recession (augmented group) or MR muscle pulley posterior fixation (pulley group). In convergence excess, the MR recession was based on the average of distance and near angles of deviation with distance correction in the augmented group, and on the distance angle of deviation in the pulley group. In variable-angle infantile esotropia, the MR recession was based on the average of the largest and smallest angles in the augmented group and on the smallest angle in the pulley group. Pre- and postoperative ductions, versions, pattern strabismus, smallest and largest angles of deviation, and angle disparity were analyzed. Surgery was performed on 60 patients: 30 underwent bilateral augmented MR recession, and 30 underwent bilateral MR recession with pulley fixation. The success rate was statistically significantly higher (P = 0.037) in the pulley group (70%) than in the augmented group (40%). The postoperative smallest and largest angles and the angle disparity were statistically significantly lower in the pulley group than the augmented group (P < 0.01). Medial rectus muscle pulley fixation is a useful surgical step for addressing marked variability of the angle in variable angle esotropia and convergence excess esotropia. Copyright © 2016 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

New developments in surgery of malignant gliomas

PubMed Central

Vranic, Andrej

2011-01-01

Background Malignant gliomas account for a high proportion of brain tumours. With new advances in neurooncology, the recurrence-free survival of patients with malignant gliomas has been substantially prolonged. It, however, remains dependent on the thoroughness of the surgical resection. The maximal tumour resection without additional postoperative deficit is the goal of surgery on patients with malignant gliomas. In order to minimize postoperative deficit, several pre- and intraoperative techniques have been developed. Conclusions Several techniques used in malignant glioma surgery have been developed, including microsurgery, neuroendoscopy, stereotactic biopsy and brachytherapy. Imaging and functional techniques allowing for safer tumour resection have a special value. Imaging techniques allow for better preoperative visualization and choice of the approach, while functional techniques help us locate eloquent regions of the brain. PMID:22933950

Localized malignant pleural mesothelioma: report of two cases.

PubMed

Tanzi, Silvia; Tiseo, Marcello; Internullo, Eveline; Cacciani, Giancarlo; Capra, Roberto; Carbognani, Paolo; Rusca, Michele; Rindi, Guido; Ardizzoni, Andrea

2009-08-01

Localized malignant pleural mesothelioma is very rare tumor disease. There are sporadic reports in the literature showing that this entity has a different biologic behavior compared with diffuse pleural mesothelioma. We report two cases of radically resected localized pleural malignant mesothelioma, with a previous history of asbestos exposure. Both cases showed a microscopic and immunohistochemical findings of malignant mesothelioma, biphasic and sarcomatoid lympho-histiocitoid variant type, respectively, without evidence of diffuse pleural spread. The first is very peculiar case of bilateral localized malignant pleural mesothelioma with complete response to chemotherapy and localized late recurrence, radically resected and treated with adjuvant radiotherapy. The second case revealed as a solitary localized mass, underwent a complete en bloc resection and adjuvant radiotherapy. Both cases demonstrate that the localized malignant mesothelioma should be distinguished from diffuse form and that complete resection is associated with good prognosis.

Microbiome and Malignancy

PubMed Central

Plottel, Claudia S.; Blaser, Martin J.

2011-01-01

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

Synchronous Pulmonary Malignancies: Atypical Presentation of Mantle Cell Lymphoma Masking a Lung Malignancy

PubMed Central

Masha, Luke; Zinchuk, Andrey; Boosalis, Valia

2015-01-01

We present a case of a pleural space malignancy masked by an atypical presentation of mantle cell lymphoma. Our patient presented with a large pleural effusion and right sided pleural studding, initially attributed to a new diagnosis of mantle cell lymphoma. Rare atypical epithelial cells were also seen amongst the clonal population of lymphocytes. The patient lacked systemic manifestations of mantle cell lymphoma and did not improve with chemotherapy. A pleural biopsy ultimately revealed the presence of an undifferentiated carcinoma, favoring a lung primary. A discussion of synchronous pleural space malignancies involving lymphomas is given. PMID:26500732

Infantile zinc deficiency: Association with autism spectrum disorders

PubMed Central

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

2011-01-01

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

A retrospective study of chiropractic treatment of 276 danish infants with infantile colic.

PubMed

Wiberg, Karin R; Wiberg, Jesper M M

2010-09-01

The aim of this study was to investigate if the outcome of excessively crying infants treated with chiropractic manipulation (1) was associated with age and/or (2), at least partially, can be explained by age according to the natural decline in crying. This was a retrospective evaluation of clinical records of 749 infants from a private Danish chiropractic practice. All of the infants were healthy, thriving infants born to term within the age of 0 to 3 months who fulfilled the diagnostic criteria for excessively crying infants (infantile colic), whose parents sought chiropractic treatment. The infants were treated using chiropractic management as decided by the treating doctor of chiropractic, and changes in crying based upon the parents' report were noted as improved, uncertain, or nonrecovered. Age predictor groups were cross-tabulated against the outcome variables, and difference between classification groups was tested with χ(2) tables and confidence intervals. Slightly older age was found to be linked to excessively crying infants who experienced clinical improvement. However, no apparent link between the clinical effect of chiropractic treatment and a natural decline in crying was found for this group of infants. The findings of this study do not support the assumption that effect of chiropractic treatment of infantile colic is a reflection of the normal cessation of this disorder. Copyright © 2010 National University of Health Sciences. Published by Mosby, Inc. All rights reserved.

Hematologic malignancies

DOE Office of Scientific and Technical Information (OSTI.GOV)

Hoogstraten, B.

1986-01-01

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

Malignant hypertension: a preventable emergency.

PubMed

van der Merwe, Walter; van der Merwe, Veronica

2013-08-16

The Waitemata Hypertension Clinic Database 2009-2012 (Auckland, New Zealand) was searched for patients meeting the definition of Malignant Hypertension. Eighteen of 565 patients met the criteria. All patients had essential hypertension which was either undiagnosed, untreated or undertreated. Most cases responded satisfactorily to standard drug therapy, but a number were left with significant chronic kidney disease. Malignant hypertension is a life-threatening disease which should be entirely preventable with regular blood pressure checks in primary care.

Eosinophilic Dermatosis of Hematologic Malignancy.

PubMed

Lucas-Truyols, S; Rodrigo-Nicolás, B; Lloret-Ruiz, C; Quecedo-Estébanez, E

Dermatosis characterized by tissue eosinophilia arising in the context of hematologic disease is known as eosinophilic dermatosis of hematologic malignancy. The most commonly associated malignancy is chronic lymphocytic leukemia. Eosinophilic dermatosis of hematologic malignancy is a rare condition with a wide variety of clinical presentations, ranging from papules, erythematous nodules, or blisters that simulate arthropod bites, to the formation of true plaques of differing sizes. Histology reveals the presence of abundant eosinophils. We present 4 new cases seen in Hospital Arnau de Vilanova, Valencia, during the past 7 years. Three of these cases were associated with chronic lymphocytic leukemia and 1 with mycosis fungoides. It is important to recognize this dermatosis as it can indicate progression of the underlying disease, as was the case in 3 of our patients. Copyright © 2017 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.

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

PubMed

Raha, Sarbani; Udani, Vrajesh

2012-12-01

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.

Concomitant endometriosis in malignant and borderline ovarian tumours.

PubMed

Oral, Engin; Aydin, Ovgu; Kumbak, Banu Aygun; İlvan, Sennur; Yilmaz, Handan; Tustas, Esra; Bese, Tugan; Demirkiran, Fuat; Arvas, Macit

2018-06-08

The aim of the study was to reveal the prevalence of concomitant endometriosis in malignant and borderline ovarian tumours. A retrospective analysis was performed of 530 patients with malignant ovarian tumours and 131 with borderline ovarian tumours, who underwent surgery in our hospital between 1995 and 2011. Forty-eight (7.3%) of 661 patients with malignant and borderline ovarian tumours were associated with endometriosis. Of the 48 endometriosis cases, 73% of those were atypical. Infertility was noted in 38% of patients with endometriosis-associated ovarian tumours. The most frequently endometriosis-associated subtypes were endometrioid (33%) and clear cell (18%) histologies. Of endometriosis-associated endometrioid and clear cell ovarian tumours, 70% were early stage and 60% were premenopausal. The prevalence of concomitant endometriosis in borderline tumours (12%) was found to be significantly higher than that found in the malignant ones (6%; p = .02). Of 32 endometriosis-associated malignant ovarian tumours, 69% were FIGO stages I and II. In conclusion, ovarian endometriosis is seen with both malignant and borderline ovarian tumours, the association being significant with borderline tumours. Fortunately, the endometriosis-associated malignant ovarian tumours are mostly early stage. Impact statement What is already known on this subject? Epidemiologic data suggest that endometriosis has malignant potential. However, a subgroup of women with endometriosis at a high risk for ovarian cancer is yet to be clarified. Currently, endometriosis and ovarian cancer association does not seem to have a clinical implication. What do the results of this study add? The findings of this study revealed that nearly 75% of endometriosis-associated ovarian tumours were of atypical endometriosis. Half of endometriosis-associated ovarian tumour cases were of endometrioid/clear cell histology and 70% were early-stage. Endometriosis was significantly associated with borderline

Proteomic study of benign and malignant pleural effusion.

PubMed

Li, Hongqing; Tang, Zhonghao; Zhu, Huili; Ge, Haiyan; Cui, Shilei; Jiang, Weiping

2016-06-01

Lung adenocarcinoma can easily cause malignant pleural effusion which was difficult to discriminate from benign pleural effusion. Now there was no biomarker with high sensitivity and specificity for the malignant pleural effusion. This study used proteomics technology to acquire and analyze the protein profiles of the benign and malignant pleural effusion, to seek useful protein biomarkers with diagnostic value and to establish the diagnostic model. We chose the weak cationic-exchanger magnetic bead (WCX-MB) to purify peptides in the pleural effusion, used matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS) to obtain peptide expression profiles from the benign and malignant pleural effusion samples, established and validated the diagnostic model through a genetic algorithm (GA) and finally identified the most promising protein biomarker. A GA diagnostic model was established with spectra of 3930.9 and 2942.8 m/z in the training set including 25 malignant pleural effusion and 26 benign pleural effusion samples, yielding both 100 % sensitivity and 100 % specificity. The accuracy of diagnostic prediction was validated in the independent testing set with 58 malignant pleural effusion and 34 benign pleural effusion samples. Blind evaluation was as follows: the sensitivity was 89.6 %, specificity 88.2 %, PPV 92.8 %, NPV 83.3 % and accuracy 89.1 % in the independent testing set. The most promising peptide biomarker was identified successfully: Isoform 1 of caspase recruitment domain-containing protein 9 (CARD9), with 3930.9 m/z, was decreased in the malignant pleural effusion. This model is suitable to discriminate benign and malignant pleural effusion and CARD9 can be used as a new peptide biomarker.

[Usage and efficacy of timolol maleate eye drops in treatment of superficial infantile hemangioma].

PubMed

Wu, Qizhen; Shi, Qingmei; Long, Jianhong; Li, Jiaguang; Guo, Yu; Lei, Shaorong

2017-06-28

To determine drug dose and usage of timolol maleate eye drops in the treatment of superficial infantile hemangioma.
 Methods: A total of 250 superficial hemangioma infants were recruited and assigned into 5 groups (n=50 for each group): an external application group and 4 exterior coating groups (2, 4, 6, 8 times per day). We evaluated the therapeutic effect of different methods for drug application (external application or exterior coating) and the frequency for drug administration on superficial infantile hemangioma.
 Results: The external application group (twice a day and 0.5 hour per time) showed better effect than that in the exterior coating group with twice a day (P<0.001). The difference in therapeutic effect between the exterior coating group with 6 times a day and exterior coating group with twice a day or with 3 times a day was significant (P<0.001). The differences in drug efficacy were not found among the exterior coating group with 6 times a day, the exterior coating group with 8 times a day, or the external application group with twice a day (All P>0.05).
 Conclusion: Drug dose may affect the therapeutic effect of timolol maleate eye drops in superficial hemangioma infants, and exterior coating with 6 times a day may achieve the best curative effect.

Malignant Mesothelioma Mortality - United States, 1999-2015.

PubMed

Mazurek, Jacek M; Syamlal, Girija; Wood, John M; Hendricks, Scott A; Weston, Ainsley

2017-03-03

Malignant mesothelioma is a neoplasm associated with occupational and environmental inhalation exposure to asbestos* fibers and other elongate mineral particles (EMPs) (1-3). Patients have a median survival of approximately 1 year from the time of diagnosis (1). The latency period from first causative exposure to malignant mesothelioma development typically ranges from 20 to 40 years but can be as long as 71 years (2,3). Hazardous occupational exposures to asbestos fibers and other EMPs have occurred in a variety of industrial operations, including mining and milling, manufacturing, shipbuilding and repair, and construction (3). Current exposures to commercial asbestos in the United States occur predominantly during maintenance operations and remediation of older buildings containing asbestos (3,4). To update information on malignant mesothelioma mortality (5), CDC analyzed annual multiple cause-of-death records † for 1999-2015, the most recent years for which complete data are available. During 1999-2015, a total of 45,221 deaths with malignant mesothelioma mentioned on the death certificate as the underlying or contributing cause of death were reported in the United States, increasing from 2,479 deaths in 1999 to 2,597 in 2015 (in the same time period the age-adjusted death rates § decreased from 13.96 per million in 1999 to 10.93 in 2015). Malignant mesothelioma deaths increased for persons aged ≥85 years, both sexes, persons of white, black, and Asian or Pacific Islander race, and all ethnic groups. Despite regulatory actions and the decline in use of asbestos the annual number of malignant mesothelioma deaths remains substantial. The continuing occurrence of malignant mesothelioma deaths underscores the need for maintaining measures to prevent exposure to asbestos fibers and other causative EMPs and for ongoing surveillance to monitor temporal trends.

‘Trained immunity’: consequences for lymphoid malignancies

PubMed Central

Stevens, Wendy B.C.; Netea, Mihai G.; Kater, Arnon P.; van der Velden, Walter J.F.M.

2016-01-01

In hematological malignancies complex interactions exist between the immune system, microorganisms and malignant cells. On one hand, microorganisms can induce cancer, as illustrated by specific infection-induced lymphoproliferative diseases such as Helicobacter pylori-associated gastric mucosa-associated lymphoid tissue lymphoma. On the other hand, malignant cells create an immunosuppressive environment for their own benefit, but this also results in an increased risk of infections. Disrupted innate immunity contributes to the neoplastic transformation of blood cells by several mechanisms, including the uncontrolled clearance of microbial and autoantigens resulting in chronic immune stimulation and proliferation, chronic inflammation, and defective immune surveillance and anti-cancer immunity. Restoring dysfunction or enhancing responsiveness of the innate immune system might therefore represent a new angle for the prevention and treatment of hematological malignancies, in particular lymphoid malignancies and associated infections. Recently, it has been shown that cells of the innate immune system, such as monocytes/macrophages and natural killer cells, harbor features of immunological memory and display enhanced functionality long-term after stimulation with certain microorganisms and vaccines. These functional changes rely on epigenetic reprogramming and have been termed ‘trained immunity’. In this review the concept of ‘trained immunity’ is discussed in the setting of lymphoid malignancies. Amelioration of infectious complications and hematological disease progression can be envisioned to result from the induction of trained immunity, but future studies are required to prove this exciting new hypothesis. PMID:27903713

Comparative cytogenetic and cytologic study in malignant lymphomas.

PubMed

Răileanu-Motoiu, I; Gociu, M; Leahu, S; Berceanu, S

1976-01-01

The possibility of a cytogenetic-cytologic correlation with implications in the diagnosis, evolutivity and prognosis of malignant lymphomas was studied. Cytogenetic investigations were carried out comparatively in the lymph node and spleen lymphoid cells from 25 patients with malignant lymphomas and in normal subjects or patients with malignant tumors. The dominant malignant cellular type was found to correspond genotypically to the abnormal clone. In lymphomas with more differentiated cells the chormosomal abnormalities were limited to a single chromosomal group, while in those with less differentiated cells there were many clonal chromozomal abnormalities. The pathogenic significance of an extra-chromosome in the C-group (observed in most of the cases) is discussed.

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

PubMed Central

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

1996-01-01

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

Asbestos-related malignancy

DOE Office of Scientific and Technical Information (OSTI.GOV)

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

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 associationmore » 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.« less

Effects of tenotomy on patients with infantile nystagmus syndrome: foveation improvement over a broadened visual field.

PubMed

Wang, Zhong; Dell'Osso, Louis F; Jacobs, Jonathan B; Burnstine, Robert A; Tomsak, Robert L

2006-12-01

To investigate the effects of four-muscle tenotomy on visual function and gaze angle in patients with infantile nystagmus syndrome (INS). Eye movements of nine patients with infantile nystagmus were recorded using infrared reflection or high-speed digital video techniques. Experimental protocols were designed to record the patients' eye-movement waveforms, pre- and post-tenotomy, at different gaze angles. We used the eXpanded Nystagmus Acuity Function (NAFX) to measure tenotomy-induced changes in the nystagmus at primary position and various gaze angles. The longest foveation domains (LFD) were measured from fitted curves. Peak-to-peak nystagmus amplitudes and foveation-period durations were also measured. All measurements were made unmasked. All seven patients with narrow, high-NAFX, gaze-angle regions showed broadening of these regions of higher visual function. Three patients showed moderate NAFX improvement (13.9-32.6%) at primary position, five showed large improvement (39.9-162.4%), and one showed no NAFX change (due to his high pretenotomy NAFX). Primary position measured acuities improved in six patients. All patients had reductions in nystagmus amplitudes ranging from 14.6 to 37%. The duration of the foveation period increased in all nine patients (11.2-200%). The percentage improvements in both the NAFX and the LFD decreased with higher pretenotomy values. In addition to elevating primary position NAFX, tenotomy also broadens the high-NAFX regions. This broadening effect is more prominent in patients who had sharp pretenotomy NAFX peaks. Four-muscle tenotomy produces higher primary position NAFX increases in infantile nystagmus patients whose pretenotomy values are relatively low, with the improvement decreasing at higher pretenotomy values. The tenotomy procedure improves visual function beyond primary position acuity. This extends the utility of surgical therapy to several different classes of patients with INS for whom other procedures are

Malignant Mesothelioma Treatment (PDQ®)—Patient Version

Cancer.gov

Treatment for malignant mesothelioma may include surgery, radiation therapy, and chemotherapy, as well as targeted therapy. The type of treatment you receive depends on where the cancer is found and at what stage. Find out about treatment options for malignant mesothelioma.

Solitary renal myofibromatosis: an unusual cause of infantile hypertension.

PubMed

Kasaragod, A B; Lucia, M S; Lum, G M; Caldwell, S; Stork, L; Stenmark, K R

1999-05-01

Renovascular disease accounts for the vast majority of cases of infantile hypertension with complications resulting from umbilical arterial catheterization predominating in the neonatal period and fibrodysplastic lesions of the renal artery predominating outside the neonatal period. We report a previously undescribed cause of renovascular hypertension: solitary renal myofibromatosis. A 9-month-old male infant was transported to the intensive care unit at Children's Hospital in Denver, Colorado, for evaluation and treatment of a dilated cardiomyopathy and severe systemic hypertension. The child was full-term with no perinatal problems. Specifically, the child never required umbilical arterial catheterization. He was well until 6 months of age when his parents noted poor weight gain. At 9 months of age, he was evaluated at the referral hospital for failure to thrive. On examination he was noted to have a blood pressure of 170/110 mm Hg, but no other abnormalities. A chest radiograph showed cardiomegaly. Laboratory studies demonstrated normal electrolytes, blood urea nitrogen, and creatinine. However, urinalysis demonstrated 4+ protein without red blood cells. An echocardiogram showed severe left ventricular dilatation with an ejection fraction of 16%. On admission the child was noted to be cachectic. His vital signs, including blood pressure, were normal for age. The physical examination was unremarkable. Serum electrolytes, blood urea nitrogen, and creatinine were normal. Echocardiographic studies suggested a dilated hypertrophic cardiomyopathy. He was started on digoxin and captopril. Subsequently, he demonstrated episodic hypertension ranging from 170/90 to 220/130 mm Hg. A repeat echocardiogram 24 hours after admission demonstrated a purely hypertrophic cardiomyopathy. Verapamil and nifedipine were added to the treatment regimen in an effort to better control the blood pressure without success. Urine and blood for catecholamines and plasma renin activity

Spleen in haematological malignancies: spectrum of imaging findings

PubMed Central

Saboo, S S; Krajewski, K M; O'Regan, K N; Giardino, A; Brown, J R; Ramaiya, N; Jagannathan, J P

2012-01-01

Imaging morphology and metabolic activity of splenic lesions is of paramount importance in patients with haematological malignancies; it can alter tumour staging, treatment protocols and overall prognosis. CT, MRI and positron emission tomography (PET)/CT have been shown to be powerful tools for the non-invasive assessment of splenic involvement in various haematological malignancies. Since many haematological malignancies and non-neoplastic conditions can involve the spleen and imaging manifestations can overlap, imaging and clinical findings outside of the spleen should be looked for to narrow the differential diagnosis; confirmation can be obtained by pathological findings. Radiologists should be familiar with the cross-sectional imaging patterns of haematological malignancies involving the spleen as well as non-neoplastic splenic findings common in these patients to facilitate their care and follow-up. This pictorial review provides the common and uncommon imaging appearances and complications of various haematological malignancies involving the spleen on CT, MRI and PET/CT, and common pitfalls in diagnosis. PMID:22096219

Endobronchial Ultrasound in Suspected Non-Malignant Mediastinal Lymphadenopathy.

PubMed

Eickhoff, L; Golpon, H; Zardo, P; Suhling, H; Welte, T; Jonigk, D; Gottlieb, J; Fuehner, T

2018-05-22

 Endobronchial ultrasound (EBUS) bronchoscopy with transbronchial needle aspiration (TBNA) is a well-established tool in mediastinal staging in lung cancer and gains importance in exploration of non-malignant lymphadenopathy. The aim of this study was to evaluate the role of EBUS-TBNA in suspected non-malignant diseases.  A retrospective, single-center, observation analysis of endobronchial ultrasound bronchoscopy procedures was performed in a university medical center between March 2013 and July 2015. All patients with suspected non-malignant mediastinal lymphadenopathy were included. Cytopathological and microbiological results of EBUS were compared to clinical diagnosis 6 months after procedure and performance of EBUS was contrasted to malignant indications.  During study period, 333 EBUS bronchoscopies in 315 patients with mediastinal lymphadenopathy were performed. 111 out of 315 (35 %) patients had neither primary signs nor history of a malignant disease, categorised as patients with suspected non-malignant disease. 245 lymph nodes were sampled (median size 15 mm [IQR10 - 19]). Preferred station for TBNA was lymph node station 7 (38 %). Cytopathological findings revealed non-specific inflammation (n = 81; 70 %), carcinoma (n = 7; 6 %), epithelioid cell granulomas (n = 20; 17 %). 7 samples (6 %) were non-representative. Microbiologic testing of lymph nodes identified 3 infections (Mycobacteria tuberculosis [n = 2] and Nocardia nova [n = 1]) relevant to antibiotic therapy. Minor adverse events were observed in 9 out of 115 (8 %) patients. Sensitivity of EBUS-TBNA intervention in suspected non-malignant disease was 76 % and specificity 96 %.  EBUS-TBNA revealed a specific cause for suspected non-malignant lymphadenopathy in one-third of cases and was associated with excellent specificity. Predominant specific causes were granuloma, besides from tumor. In 3 patients pathogen could be isolated by TBNA. © Georg

Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy.

PubMed

van Gelder, C M; van Capelle, C I; Ebbink, B J; Moor-van Nugteren, I; van den Hout, J M P; Hakkesteegt, M M; van Doorn, P A; de Coo, I F M; Reuser, A J J; de Gier, H H W; van der Ploeg, A T

2012-05-01

Classic infantile Pompe disease is an inherited generalized glycogen storage disorder caused by deficiency of lysosomal acid α-glucosidase. If left untreated, patients die before one year of age. Although enzyme-replacement therapy (ERT) has significantly prolonged lifespan, it has also revealed new aspects of the disease. For up to 11 years, we investigated the frequency and consequences of facial-muscle weakness, speech disorders and dysphagia in long-term survivors. Sequential photographs were used to determine the timing and severity of facial-muscle weakness. Using standardized articulation tests and fibreoptic endoscopic evaluation of swallowing, we investigated speech and swallowing function in a subset of patients. This study included 11 patients with classic infantile Pompe disease. Median age at the start of ERT was 2.4 months (range 0.1-8.3 months), and median age at the end of the study was 4.3 years (range 7.7 months -12.2 years). All patients developed facial-muscle weakness before the age of 15 months. Speech was studied in four patients. Articulation was disordered, with hypernasal resonance and reduced speech intelligibility in all four. Swallowing function was studied in six patients, the most important findings being ineffective swallowing with residues of food (5/6), penetration or aspiration (3/6), and reduced pharyngeal and/or laryngeal sensibility (2/6). We conclude that facial-muscle weakness, speech disorders and dysphagia are common in long-term survivors receiving ERT for classic infantile Pompe disease. To improve speech and reduce the risk for aspiration, early treatment by a speech therapist and regular swallowing assessments are recommended.

Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports.

PubMed

Vargiami, E; Papathanasiou, E; Batzios, S; Kyriazi, M; Dimitriou, E; Anastasiou, A; Michelakakis, H; Giese, A-K; Zafeiriou, D I

2016-07-01

Krabbe disease is an autosomal recessive neurodegenerative disorder due to a defect of the lysosomal enzyme β-galactocerebrosidase (β-GALC). Depending on the age of onset, the disease is classified into infantile and later-onset forms. We report neuroradiological, neurophysiological and molecular findings in two Greek patients with the infantile form of Krabbe disease. The index patients presented at the age of 3.5 and 6 months, respectively, due to developmental delay. Magnetic resonance imaging (MRI) of the first patient's brain demonstrated signs of leukodystrophy, while nerve conduction velocities (NCVs) were significantly decreased. The second patient's MRI at the age of 4 months was initially normal, but at 18 months demonstrated leukodystrophic alterations as well, whereas NCVs were also significantly delayed. In both patients, a severe decrease in β-GALC, activity supported the diagnosis of Krabbe disease, while the final diagnosis was confirmed by molecular genetic testing. Two homozygous mutations of the GALC gene, the c.411_413delTAA [p.K139del] mutation in the first patient, and the c.749T>C [p.I250T] mutation in the second patient, were identified. At their last follow-up visit at the age of 4 and 6 years, respectively, both patients were bedridden and quadri-plegic, suffering from frequent respiratory tract infections and fed through a gastrostomy. Both mutations found in homozygosity in these two unrelated patients of Greek ancestry, could pinpoint a common origin. Genotyping of patients with Krabbe disease is important, in order to contribute to the creation of a European mutation database and to further study possible genotype-phenotype correlations of the disease.

The clinical evaluation of infantile nystagmus: What to do first and why

PubMed Central

Bertsch, Morgan; Floyd, Michael; Kehoe, Taylor; Pfeifer, Wanda; Drack, Arlene V.

2017-01-01

Introduction Infantile nystagmus has many causes, some life threatening. We determined the most common diagnoses in order to develop a testing algorithm. Methods Retrospective chart review. Exclusion criteria were no nystagmus, acquired after 6 months, or lack of examination. Data collected: pediatric eye examination findings, ancillary testing, order of testing, referral, and final diagnoses. Final diagnosis was defined as meeting published clinical criteria and/or confirmed by diagnostic testing. Patients with a diagnosis not meeting the definition were “unknown.” Patients with incomplete testing were “incomplete.” Patients with multiple plausible etiologies were “multifactorial.” Patients with negative complete workup were “motor.” Results 284 charts were identified; 202 met inclusion criteria. The 3 most common causes were Albinism(19%), Leber Congenital Amaurosis(LCA)(14%) and Non-LCA retinal dystrophy (13%). Anatomic retinal disorders comprised 10%, motor another 10%. The most common first test was MRI (74/202) with a diagnostic yield of 16%. For 28 MRI-first patients, nystagmus alone was the indication; for 46 MRI-first patients other neurologic signs were present. 0/28 nystagmus-only patients had a diagnostic MRI while 14/46 (30%) with neurologic signs did. Yield of ERG as first test was 56%, OCT 55%, and molecular genetic testing 47%. 90% of patients had an etiology identified. Conclusion The most common causes of infantile nystagmus were retinal disorders (56%), however the most common first test was brain MRI. For patients without other neurologic stigmata complete pediatric eye examination, ERG, OCT and molecular genetic testing had a higher yield than MRI scan. If MRI is not diagnostic, a complete ophthalmologic workup should be pursued. PMID:28177849

Resection for secondary malignancy of the pancreas.

PubMed

Hung, Jui-Hsia; Wang, Shin-E; Shyr, Yi-Ming; Su, Cheng-Hsi; Chen, Tien-Hua; Wu, Chew-Wun

2012-01-01

This study tried to clarify the role of pancreatic resection in the treatment of secondary malignancy with metastasis or local invasion to the pancreas in terms of surgical risk and survival benefit. Data of secondary malignancy of the pancreas from our 19 patients and cases reported in the English literature were pooled together for analysis. There were 329 cases of resected secondary malignancy of the pancreas, including 241 cases of metastasis and 88 cases of local invasion. The most common primary tumor metastatic to the pancreas and amenable to resection was renal cell carcinoma (RCC) (73.9%). More than half (52.3%) of the primary cancers with local invasion to the pancreas were colon cancer, and nearly half (40.9%) were stomach cancer. The median metastatic interval was 84 months (7 years) for overall primary tumors and 108 months (9 years) for RCC. The 5-year survival for secondary malignancy of the pancreas after resection was 61.1% for metastasis and 58.9% for local invasion, with 72.8% for RCC metastasis, 69.0% for colon cancer, and 43.8% for stomach cancer with local invasion to the pancreas. Pancreatic resection should not be precluded for secondary malignancy of the pancreas because long-term survival could be achieved with acceptable surgical risk in selected patients.

Parent-child relationship quality and infantile amnesia in adults.

PubMed

Peterson, Carole; Nguyen, Duyen T K

2010-11-01

The first years of life are typically shrouded by infantile amnesia, but there is enormous variability between adults in how early and how much they can remember from this period. This study examined one possible factor affecting this variability: whether the perceived quality of parent-child relationships is associated with the number of early memories young adults can retrieve, and their age at the time of their first memory. We found such associations but they were qualified by parent gender. Mother-child relationships that were more affectively intense (greater social support but also more negative interchanges) were associated with recalling more early memories, although paternal companionship was most associated with how early an individual's first memory was. Affective tone of retrieved memories was also assessed, and a greater proportion of affectively positive memories (as well as fewer affectively neutral memories for males) was associated with high parental involvement in children's lives.

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

PubMed

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

2013-12-01

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

Malignancy in Noonan syndrome and related disorders.

PubMed

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

2015-12-01

Noonan syndrome (NS) and related disorders, such as NS with multiple lentigines (formerly called LEOPARD syndrome), cardiofaciocutaneous syndrome, and Costello syndrome, constitute an important group of developmental malformation syndromes with variable clinical and molecular features. Their underlying pathophysiologic mechanism involves dysregulation of the Ras/mitogen-activated protein kinase signaling pathway, an essential mediator of developmental and growth processes in the prenatal and postnatal setting. Malignant tumor development is an important complication encountered in other RASopathies, such as neurofibromatosis type 1, but the neoplastic risks and incidence of malignant tumors are less clearly defined in NS and related disorders of the Noonan spectrum. Malignant tumor development remains an important complication variably seen in the RASopathies and, thus, a clear understanding of the underlying risks is essential for appropriate clinical care in this patient population. This review discusses previously published reports of malignancies in individuals with RASopathies of the Noonan spectrum. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Malignant Mesothelioma Treatment (PDQ®)—Health Professional Version

Cancer.gov

Malignant mesothelioma treatment may include surgery, radiation therapy, and chemotherapy. Get detailed information about the diagnosis and treatment of newly diagnosed and recurrent malignant mesothelioma in this summary for clinicians.

A handheld wireless device for diffuse optical spectroscopic assessment of infantile hemangiomas

NASA Astrophysics Data System (ADS)

Fong, Christopher J.; Flexman, Molly; Hoi, Jennifer W.; Geller, Lauren; Garzon, Maria; Kim, Hyun K.; Hielscher, Andreas H.

2013-03-01

Infantile hemangiomas (IH) are common vascular growths that occur in 5-10% of neonates and have the potential to cause disfiguring and even life-threatening complications. With no objective tool to monitor IH, a handheld wireless device (HWD) that uses diffuse optical spectroscopy has been developed for use in assessment of IH by measurements in absolute oxygenated and deoxygenated hemoglobin concentration as well as scattering in tissue. Reconstructions of these variables can be computed using a multispectral evolution algorithm. We validated the new system by experimental studies using phantom experiments and a clinical study is under way to assess the utility of DOI for IH.

Non-malignant complications of coeliac disease.

PubMed

Holmes, G K

1996-05-01

Patients with coeliac disease are at increased risk of developing complications which increase morbidity and mortality. Emphasis on malignant complications has often overshadowed the non-malignant risks, which have received relatively little attention, although some of these can be very troublesome and even life-threatening. This article points out that a large population of unidentified or neglected coeliac patients is at potential risk. The challenge is to identify this group by case-finding or screening programmes in selected populations, so that they can be offered a gluten-free diet and other treatments which will not only improve general health but may also prevent or reduce the development of health problems. The non-malignant risks are outlined and bone and neuropsychiatric disturbances considered in more detail because of recent developments in these areas.

[Malignant vascular tumors of the vulva].

PubMed

Chokoeva, A; Tchernev, G

2015-01-01

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

Insight into the number of pre-malignancies and malignancies of the skin in a hospital population in the Netherlands.

PubMed

van Rijsingen, Margit; Seubring, Inge; Maessen-Visch, Birgitte; Lavrijsen, Sjan; van Bergen, Bert; Groenewoud, Johannes; Gerritsen, Marie-Jeanne

2015-01-01

Skin cancer incidence is rising, placing a burden on healthcare systems worldwide. This problem may even be more extensive than expected, since registration of (pre)malignancies of the skin is poor. To provide insight into the numbers of (pre)malignancies in patients with actinic keratosis (AK) or basal cell carcinoma (BCC) in 2 university and 2 general hospitals. The types and numbers of previous tumours and of tumours during a two-year follow-up were collected from 574 patients. Mean time between the first diagnosed (pre)malignancy and time of inclusion was 6.6 years. Overall, 60% had multiple types of (pre)malignancies. In BCC patients, 61% had multiple BCCs, in patients with squamous cell carcinoma (SCC), 40% had multiple SCCs. The combination 'BCC and SCC' occurred in 10%, 'BCC and AK' in 47%, 'SCC and AK' in 14%. High numbers of patients with multiple (pre)malignancies were found in this patient population in university and general hospitals, which may well reflect the Dutch hospital population. We conclude that skin cancer patients are more extensively affected than was expected up till now. Consequently, the management of skin cancer may be in need of adaptation in near future and the question arises whether dermatologists have the capacity for providing care for all these patients.

Malignant hemangiopericytoma of pituitary fossa.

PubMed

Das, Prasenjit; Haresh, Kunhi P; Suri, Vaishali; Sharma, Mehar Chand; Sharma, Bhawani Shankar; Sarkar, Chitra

2010-01-01

Intracranial hemangiopericytomas are rare tumors with aggressive behavior. Other than the meninges, this lesion has rarely been reported in periventricular and sellar region. We report a case of malignant hemangiopericytoma in sellar region in a 47-year-old male who presented with history of sudden onset of bilateral visual disturbances. To best of our knowledge, this is the second case report of malignant hemangiopericytoma in this location. As this intracranial lesion shows aggressive behavior, in the form of recurrence or extracranial metastasis in comparison to its extracranial counterparts, diagnosis should be made cautiously.

[Infantile meningitis caused by respiratory syncytial virus].

PubMed

Shirota, Go; Morozumi, Miyuki; Ubukata, Kimiko; Shiro, Hiroyuki

2011-11-01

Respiratory syncytial (RS) virus commonly causes infantile respiratory tract infection causing significant morbidity and mortality, but rarely meningitis. We report a case of meningitis caused by RS virus subgroup B in a 56-day-old boy admitted for high fever who underwent blood examination and lumbar puncture. Empirical chemotherapy was started with intravenous ampicillin, gentamicin, and cefotaxime based on laboratory data on CSF cells (84/microL) and serum CRP (13.8mg/dL) data. RS virus subgroup B was only detected using real-time PCR comprehensive reverse transcription from the first CSF, but no bacterial gene was detected. No bacteria grew from his CSF, urine, or blood. Fever and serum CRP dropped in a few days. He had neither seizures nor disturbance of consciousness and was discharged on day 11 after admission. No evidence of encephalopathy was detected in brain MRI or electroencephalography. RS virus rarely causes meningitis, but a percentage of RS-virus-infected infants exhibit symptoms such as seizure and disturbance of consciousness. We should recognize that the RS virus may cause neurological complications associated with high morbidity and mortality.

Monitoring propranolol treatment in periocular infantile haemangioma.

PubMed

Burne, R; Taylor, R

2014-11-01

To develop a tool for assessing amblyopic risk and monitoring the treatment effect of propranolol in periocular haemangioma management. We present a study of nine children with periocular haemangioma who underwent propranolol treatment at York Hospital between 2009 and 2013.A proposed measure of amblyogenic risk based on the induced anisometropia resulting from a periocular haemangioma was calculated in the form of a single quantitative value, measured in dioptres. This calculation used published work and developed it to produce a new function, termed the delta defocus equivalent (DFE-∂).Refraction measurements were retrospectively collected from patients' notes in order to measure the trend of DFE-∂ over the treatment period with propranolol. The average DFE-∂ at commencement of propranolol was 1.54 (±0.62) D. The average at the end of treatment was 0.39 (±0.38) D. This work presents a possible tool for assessing amblyopic risk in cases of periocular infantile haemangioma. The DFE-∂ gives a measure in dioptres, which may represent the true amblyopic risk, and so be useful in supporting treatment decisions in paediatric ophthalmology.

Malignant lymphoma in african lions (panthera leo).

PubMed

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

2010-09-01

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

[Multiple conjunctival malignant melanomas (author's transl)].

PubMed

Haddad, R

1979-04-01

5 1/2 years after excision of pigmented malignant melanoma which apparently arose in a nevus of the paralimbal bulbar conjunctiva, this 42-year-old male presented himself with a nonpigmented mass of the lid margin which also proved to be a malignant melanoma. "Acquired melanosis sine pigmento" was considered as a site of origin, but histopathologically there is more evidence that this melanoma arose in a non-pigmented compound nevus.

Extrathymic malignancies in thymoma patients with and without myasthenia gravis.

PubMed

Owe, Jone Furlund; Cvancarova, Milada; Romi, Fredrik; Gilhus, Nils Erik

2010-03-15

The influence of myasthenia gravis (MG) on risk of cancer is uncertain. Using nationwide, comprehensive data, we investigated the association between MG and occurrence of extrathymic malignancies in thymoma patients, and also assessed the risk of consecutive extrathymic malignancies after thymoma diagnosis. Two hundred twelve thymoma patients were identified at the Cancer Registry of Norway between 1969 and 2005. Records on all extrathymic malignancies for these patients were supplied from the Registry's database. Comparisons were made between MG and non-MG patients and between thymoma patients and the general population. The frequency of extrathymic malignancies was similar in MG and non-MG thymoma patients, and so was the survival after thymoma diagnosis. Extrathymic malignancies occurred in 10% of thymoma patients within 10 years following the thymoma diagnosis. Thymoma patients had a significantly increased risk of developing an extrathymic malignancy compared to the general population. This was not linked to any specific kind of cancer. Thymoma morphology was not a significant predictor for an increased risk of consecutive cancer. The immunological process underlying MG does not influence the risk of cancer in thymoma patients. Thymoma patients have a significantly increased risk of extrathymic malignancies. This is an intrinsic effect, being unaffected by a coexisting autoimmune disease such as MG and not specific for any type of cancer. Screening for extrathymic malignancies in thymoma patients is probably not recommendable, but clinicians should be aware of the high rate of extrathymic malignancies occurring in thymoma patients.

Radiotherapy of oral malignant melanomas in dogs.

PubMed

Blackwood, L; Dobson, J M

1996-07-01

To evaluate response to radiotherapy in dogs with oral malignant melanomas. Clinical trial. 36 dogs with histologically confirmed oral malignant melanomas. The prescribed radiation dose was 36 Gy given in 4 fractions of 9 Gy at 7-day intervals. The primary radiation source was a linear accelerator. In 25 of 36 dogs, complete remission was achieved, and in 9 dogs, partial remission was achieved. Recurrence of the primary tumor was the cause of euthanasia of 4 dogs. Twenty-one dogs were euthanatized because of metastasis. Radiotherapy was an effective palliative treatment for the primary tumor in dogs with oral malignant melanomas. However, rapid development of metastatic disease remained a major challenge.

Water content and structure in malignant and benign skin tumours

NASA Astrophysics Data System (ADS)

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

2003-12-01

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

Primary malignant small bowel tumors: an atypical abdominal emergency.

PubMed Central

Mitchell, K. J.; Williams, E. S.; Leffall, L. D.

1995-01-01

Primary malignant tumors of the small bowel are uncommon in the United States. They comprise less than 1% of all gastrointestinal malignancies, with an incidence of 2200 cases per year. The clinical presentation of small bowel tumors is frequently insidious and often overlooked by physicians. The low incidence and lack of pathognomonic symptoms are the reasons that the early diagnosis of malignant small bowel tumor is uncommon. To better understand the clinical presentation, diagnostic evaluation, management, and outcome, a review of Howard University patients with primary malignant small bowel tumors between 1970 and 1990 was conducted. Our experience concurs with the reported literature and supports the conclusion that a high index of suspicion is necessary. The diagnosis of a malignant small bowel tumor should be considered in patients with vague chronic abdominal complaints. Images Figure 1 Figure 2 PMID:7752280

Immunotherapy in hematologic malignancies: past, present, and future.

PubMed

Im, Annie; Pavletic, Steven Z

2017-04-24

The field of immunotherapy in cancer treatments has been accelerating over recent years and has entered the forefront as a leading area of ongoing research and promising therapies that have changed the treatment landscape for a variety of solid malignancies. Prior to its designation as the Science Breakthrough of the Year in 2013, cancer immunotherapy was active in the treatment of hematologic malignancies. This review provides a broad overview of the past, present, and potential future of immunotherapy in hematologic malignancies.

The elusive engram: what can infantile amnesia tell us about memory?

PubMed

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

2014-01-01

Revealing the engram is one of the greatest challenges in neuroscience. Many researchers focus on understanding the cellular and molecular mechanisms underlying the formation and maintenance of the engram, but an underutilized approach has been to investigate analogous processes associated with forgetting. Infant rodents present an ideal model for this purpose because they display a rapid form of non-pathological forgetting known as infantile amnesia (IA). Despite the widespread importance of this interesting phenomenon, the study of the neural bases of IA has remained largely neglected. Here, we consider what IA can tell us about memory. We argue that to understand the mechanisms underlying the engram we must also gain an appreciation of the mechanisms that drive forgetting. Copyright © 2013 Elsevier Ltd. All rights reserved.

Infantile onset diabetes mellitus in developing countries - India

PubMed Central

Varadarajan, Poovazhagi

2016-01-01

Infantile onset diabetes mellitus (IODM) is an uncommon metabolic disorder in children. Infants with onset of diabetes mellitus (DM) at age less than one year are likely to have transient or permanent neonatal DM or rarely type 1 diabetes. Diabetes with onset below 6 mo is a heterogeneous disease caused by single gene mutations. Literature on IODM is scanty in India. Nearly 83% of IODM cases present with diabetic keto acidosis at the onset. Missed diagnosis was common in infants with diabetes (67%). Potassium channel mutation with sulphonylurea responsiveness is the common type in the non-syndromic IODM and Wolcott Rallison syndrome is the common type in syndromic diabetes. Developmental delay and seizures were the associated co-morbid states. Genetic diagnosis has made a phenomenal change in the management of IODM. Switching from subcutaneous insulin to oral hypoglycemic drugs is a major clinical breakthrough in the management of certain types of monogenic diabetes. Mortality in neonatal diabetes is 32.5% during follow-up from Indian studies. This article is a review of neonatal diabetes and available literature on IODM from India. PMID:27022444

Risk factor assessment of endoscopically removed malignant colorectal polyps

PubMed Central

Netzer, P; Forster, C; Biral, R; Ruchti, C; Neuweiler, J; Stauffer, E; Schonegg, R; Maurer, C; Husler, J; Halter, F; Schmassmann, A

1998-01-01

Background—Malignant colorectal polyps are defined as endoscopically removed polyps with cancerous tissue which has invaded the submucosa. Various histological criteria exist for managing these patients. 
Aims—To determine the significance of histological findings of patients with malignant polyps. 
Methods—Five pathologists reviewed the specimens of 85 patients initially diagnosed with malignant polyps. High risk malignant polyps were defined as having one of the following: incomplete polypectomy, a margin not clearly cancer-free, lymphatic or venous invasion, or grade III carcinoma. Adverse outcome was defined as residual cancer in a resection specimen and local or metastatic recurrence in the follow up period (mean 67months). 
Results—Malignant polyps were confirmed in 70 cases. In the 32 low risk malignant polyps, no adverse outcomes occurred; 16(42%) of the 38 patients with high risk polyps had adverse outcomes (p<0.001). Independent adverse risk factors were incomplete polypectomy and a resected margin not clearly cancer-free; all other risk factors were only associated with adverse outcome when in combination. 
Conclusion—As no patients with low risk malignant polyps had adverse outcomes, polypectomy alone seems sufficient for these cases. In the high risk group, surgery is recommended when either of the two independent risk factors, incomplete polypectomy or a resection margin not clearly cancer-free, is present or if there is a combination of other risk factors. As lymphatic or venous invasion or grade III cancer did not have an adverse outcome when the sole risk factor, operations in such cases should be individually assessed on the basis of surgical risk. 

 Keywords: malignant polyps; colon cancer; colonoscopy; polypectomy; histology PMID:9824349

The International Thymic Malignancy Interest Group thymic initiative: a state-of-the-art study of thymic malignancies.

PubMed

Detterbeck, Frank; Korst, Robert

2014-01-01

Thymic malignancies are relatively rare tumors. A general lack of knowledge, misconceptions about benignancy, confusion about the definition of terms, and variability in reporting of outcomes have further hampered progress in these diseases. The International Thymic Malignancy Interest Group has emerged to counter these challenges and has brought together a worldwide multidisciplinary community determined to improve outcomes for these patients. Although the organization is young (initiated in 2010), major early accomplishments have created a foundation and infrastructure for scientific research. These include consensus definitions of terms, an unprecedented global database, development of practical clinical resources and, together with the International Association for the Study of Lung Cancer, development of proposals for the first formal stage classification of these malignant tumors. Many articles have been published or are under way, and a second phase of projects building on the early success is proceeding. The greatest accomplishment of the International Thymic Malignancy Interest Group lies in the establishment of an open culture of collaboration and the engagement of a broad group of individuals united by a common mission. It is a testament to what can be achieved, despite ongoing and inherent challenges, by determination and a collective effort. Copyright © 2014 Elsevier Inc. All rights reserved.

Combined cord blood and bone marrow transplantation from the same human leucocyte antigen-identical sibling donor for children with malignant and non-malignant diseases.

PubMed

Tucunduva, Luciana; Volt, Fernanda; Cunha, Renato; Locatelli, Franco; Zecca, Marco; Yesilipek, Akif; Caniglia, Maurizio; Güngör, Tayfun; Aksoylar, Serap; Fagioli, Franca; Bertrand, Yves; Addari, Maria Carmen; de la Fuente, Josu; Winiarski, Jacek; Biondi, Andrea; Sengeloev, Henrik; Badell, Isabel; Mellgren, Karin; de Heredia, Cristina Díaz; Sedlacek, Petr; Vora, Ajay; Rocha, Vanderson; Ruggeri, Annalisa; Gluckman, Eliane

2015-04-01

Umbilical cord blood (UCB) from an human leucocyte antigen (HLA)-identical sibling can be used for transplantation of patients with malignant and non-malignant diseases. However, the low cellular content of most UCB units represents a limitation to this approach. An option to increase cell dose is to harvest bone marrow (BM) cells from the same donor and infuse them along with the UCB. We studied 156 children who received such a combined graft between 1992 and 2011. Median age was 7 years and 78% of patients (n = 122) were transplanted for non-malignant diseases, mainly haemoglobinopathies. Acute leukaemia (n = 26) was the most frequent malignant diagnosis. Most patients (91%) received myeloablative conditioning. Median donor age was 1·7 years, median infused nucleated cell dose was 24·4 × 10(7) /kg and median follow-up was 41 months. Sixty-days neutrophil recovery occurred in 96% of patients at a median of 17 d. The probabilities of grade-II-IV acute and chronic graft-versus-host disease (GVHD) were 19% and 10%, respectively. Four-year overall survival was 90% (68% malignant; 97% non-malignant diseases) with 3% probability of death. In conclusion, combined UCB and BM transplantation from an HLA-identical sibling donor is an effective treatment for children with malignant and non-malignant disorders with high overall survival and low incidence of GVHD. © 2014 John Wiley & Sons Ltd.

Multiple cutaneous malignancies in a patient of xeroderma pigmentosum.

PubMed

Grampurohit, Vandana U; Dinesh, U S; Rao, Ravikala

2011-01-01

Xeroderma pigmentosum is a genodermatosis characterized by photosensitivity and the development of cutaneous and internal malignancies at an early age. The basic defect underlying the clinical manifestations is a nucleotide excision repair defect, leading to defective repair of DNA damaged by ultraviolet radiation. These patients exhibit enhanced sensitivity to ionizing radiation. Patients with xeroderma pigmentosum who are younger than 20 years of age have a greater than 1000-fold increased risk of developing skin cancer. Early detection of these malignancies is necessary because they are fast growing, metastasize early and lead to death. Although, early detection and treatment of cutaneous malignancies will reduce the morbidity and mortality, genetic counseling remains the most important measure for preventing xeroderma pigmentosum. We report a case of xeroderma pigmentosum in an 18-year-old male presenting with multiple cutaneous malignancies: squamous cell carcinoma, malignant melanoma and pigmented basal cell carcinoma.

Update on the imaging of malignant perivascular epithelioid cell tumors (PEComas).

PubMed

Phillips, Catherine H; Keraliya, Abhishek R; Shinagare, Atul B; Ramaiya, Nikhil H; Tirumani, Sree Harsha

2016-02-01

Malignant perivascular epithelioid cell tumors (PEComas) are a histologic group of mesenchymal neoplasms that share a distinctive histological phenotype, the perivascular epithelioid cell. These tumors are known for their perivascular distribution. Malignant PEComas have a female predominance and are associated with aggressive disease and poor prognosis, making timely diagnosis critical to management. Imaging features of malignant PEComas are nonspecific and mimic other benign and malignant neoplasms. Surgery is the mainstay in the management of malignant PEComas. Promising novel molecular targeted therapies like m-TOR inhibitors have been shown to be effective in the metastatic setting. The aim of this review is to familiarize radiologists with the imaging appearances of and potential therapies for primary and metastatic malignant PEComa.

Second malignancies in children: the usual suspects?

PubMed

Moppett, J; Oakhill, A; Duncan, A W

2001-06-01

The aim of this article is to provide an up to date review of second malignant neoplasms (SMN's) following treatment for childhood cancer, referring to their incidence, the role of genetic factors, and how the primary malignancy and treatment received influence the type, site and prognosis of SMN's. The role of genetic factors will be discussed as far as they impact upon a predisposition to later development of SMN's. The primary malignancies that have important associations with SMN's will then be discussed, in particular Hodgkin's disease, retinoblastoma and acute lymphoblastic leukaemia. The important second malignancies will be highlighted, including tumours of the CNS and thyroid, osteosarcoma, secondary acute myeloid leukaemia and melanoma. Emphasis will be put upon identifying which patients are most likely to suffer from these tumours. An important part of the article are case histories. These are provided in combination with illustrations as a useful adjunct to the text, with a particular emphasis on radiological features, diagnosis and screening. Finally, the important but different roles of causal agents, in particular chemotherapy and radiotherapy are highlighted.

Hospital end-of-life care in haematological malignancies.

PubMed

Beaussant, Yvan; Daguindau, Etienne; Chauchet, Adrien; Rochigneux, Philippe; Tournigand, Christophe; Aubry, Régis; Morin, Lucas

2018-02-06

To investigate patterns of care during the last months of life of hospitalised patients who died from different haematological malignancies. Nationwide register-based study, including all hospitalised adults ≥20 years who died from haematological malignancies in France in 2010-2013. Outcomes included use of invasive cancer treatments and referral to palliative care. Percentages are adjusted for sex and age using direct standardisation. Of 46 629 inpatients who died with haematological malignancies, 24.5% received chemotherapy during the last month before death, 48.5% received blood transfusion, 12.3% were under invasive ventilation and 18.1% died in intensive care units. We found important variations between haematological malignancies. The use of chemotherapy during the last month of life varied from 8.6% among patients with chronic myeloid leukaemia up to 30.1% among those with non-Hodgkin's lymphoma (P<0.001). Invasive ventilation was used in 10.2% of patients with acute leukaemia but in 19.0% of patients with Hodgkin's lymphoma (P<0.001). Palliative status was reported 30 days before death in only 14.8% of patients, and at time of death in 46.9% of cases. Overall, 5.5% of haematology patients died in palliative care units. A high proportion of patients who died from haematological malignancies receive specific treatments near the end of life. There is a need for a better and earlier integration of the palliative care approach in the standard practice of haematology. However, substantial variation according to the type of haematological malignancy suggests that the patients should not be considered as one homogeneous group. Implementation of palliative care should account for differences across haematological malignancies. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

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

PubMed

Figueroa, Gustavo C

2014-01-01

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

Malignant Transformation of Radiotherapy-Naïve Craniopharyngioma.

PubMed

Chunhui, Liu; Chuzhong, Li; Zhenye, Li; Yilin, Sun; Yazhuo, Zhang

2016-04-01

Craniopharyngioma is a rare benign intracranial neoplasm that is successfully managed with surgery or adjuvant radiotherapy. The malignant transformation of craniopharyngioma has seldom been reported. A 30-year-old woman presented with a 5-month history of amenorrhea and was admitted to the hospital. She underwent surgical resection for three times and died at last. MRI revealed a new solid component of craniopharyngioma. Pathologic examination revealed malignant changes in the craniopharyngioma. In addition, We analyzed the expression of Ki-67, p53, VEGF, and MMP-9 in this malignant case after the third operation and in samples from 9 benign craniopharyngiomas. Immunohistochemical analysis showed that the Ki-67 index was higher in malignant craniopharyngiomas (50%) compared with benign craniopharyngiomas (3.0% ± 1.5%; range, 1.0%-6.0%). The p53, MMP-9, and VEGF protein levels were higher in the malignant craniopharyngioma compared with the benign craniopharyngiomas. Patients with a high Ki-67 index and high p53, MMP-9, and VEGF protein levels and a new solid component of craniopharyngioma on MRI may benefit from aggressive treatment and close surveillance. Copyright © 2016 Elsevier Inc. All rights reserved.

Molecular and genetic insights into an infantile epileptic encephalopathy - CDKL5 disorder.

PubMed

Zhou, Ailing; Han, Song; Zhou, Zhaolan Joe

2017-02-01

The discovery that mutations in cyclin-dependent kinase-like 5 ( CDKL5 ) gene are associated with infantile epileptic encephalopathy has stimulated world-wide research effort to understand the molecular and genetic basis of CDKL5 disorder. Given the large number of literature published thus far, this review aims to summarize current genetic studies, draw a consensus on proposed molecular functions, and point to gaps of knowledge in CDKL5 research. A systematic review process was conducted using the PubMed search engine focusing on CDKL5 studies in the recent ten years. We analyzed these publications and summarized the findings into four sections: genetic studies, CDKL5 expression patterns, molecular functions, and animal models. We also discussed challenges and future directions in each section. On the clinical side, CDKL5 disorder is characterized by early onset epileptic seizures, intellectual disability, and stereotypical behaviors. On the research side, a series of molecular and genetic studies in human patients, cell cultures and animal models have established the causality of CDKL5 to the infantile epileptic encephalopathy, and pointed to a key role for CDKL5 in regulating neuronal function in the brain. Mouse models of CDKL5 disorder have also been developed, and notably, manifest behavioral phenotypes, mimicking numerous clinical symptoms of CDKL5 disorder and advancing CDKL5 research to the preclinical stage. Given what we have learned thus far, future identification of robust, quantitative, and sensitive outcome measures would be the key in animal model studies, particularly in heterozygous females. In the meantime, molecular and cellular studies of CDKL5 should focus on mechanism-based investigation and aim to uncover druggable targets that offer the potential to rescue or ameliorate CDKL5 disorder-related phenotypes.

Is oral health a risk for malignant disease?

PubMed

Seymour, Robin A

2010-06-01

Poor oral health has been associated with a variety of systemic diseases. More recent evidence suggests that the extent and severity of periodontal disease and tooth loss may be associated with an increased risk of malignant disease. An association between poor oral health, smoking, increased alcohol consumption as a risk for oral cancer is well established. Associations between oral health and tooth loss with gastric, lung and pancreatic cancers are explored. Some of the associations need further evaluation before patients are warned about their periodontal health increasing the risk of malignant changes elsewhere in the body. The smoking factor may have a commonality linking oral health with an increased risk for malignant disease. This paper reviews the association between oral health (especially the extent and severity of periodontal disease and tooth loss) as a risk for certain malignancies.

Aberrant Huntingtin interacting protein 1 in lymphoid malignancies.

PubMed

Bradley, Sarah V; Smith, Mitchell R; Hyun, Teresa S; Lucas, Peter C; Li, Lina; Antonuk, Danielle; Joshi, Indira; Jin, Fang; Ross, Theodora S

2007-09-15

Huntingtin interacting protein 1 (HIP1) is an inositol lipid, clathrin, and actin binding protein that is overexpressed in a variety of epithelial malignancies. Here, we report for the first time that HIP1 is elevated in non-Hodgkin's and Hodgkin's lymphomas and that patients with lymphoid malignancies frequently had anti-HIP1 antibodies in their serum. Moreover, p53-deficient mice with B-cell lymphomas were 13 times more likely to have anti-HIP1 antibodies in their serum than control mice. Furthermore, transgenic overexpression of HIP1 was associated with the development of lymphoid neoplasms. The HIP1 protein was induced by activation of the nuclear factor-kappaB pathway, which is frequently activated in lymphoid malignancies. These data identify HIP1 as a new marker of lymphoid malignancies that contributes to the transformation of lymphoid cells in vivo.

CT differentiation of 1-2-cm gallbladder polyps: benign vs malignant.

PubMed

Song, E Rang; Chung, Woo-Suk; Jang, Hye Young; Yoon, Minjae; Cha, Eun Jung

2014-04-01

To evaluate MDCT findings of 1-2-cm sized gallbladder (GB) polyps for differentiation between benign and malignant polyps. Institutional review board approval was obtained, and informed consent was waived. Portal venous phase CT scans of 1-2-cm sized GB polyps caused by various pathologic conditions were retrospectively reviewed by two blinded observers. Among the 36 patients identified, 21 had benign polyps with the remaining 15 having malignant polyps. Size, margin, and shape of GB polyps were evaluated. Attenuation values of the polyps, including mean attenuation, maximum attenuation, and standard deviation, were recorded. As determined by visual inspection, the degree of polyp enhancement was evaluated. Using these CT findings, each of the two radiologists assessed and recorded individual diagnostic confidence for differentiating benign versus malignant polyps on a 5-point scale. The diagnostic performance of CT was evaluated using a receiver operating characteristic curve analysis. There was no significant difference in size between benign and malignant GB polyps. Ill-defined margin and sessile morphology were significantly associated with malignant polyp. There was a significant difference in mean and maximum attenuation values between benign and malignant GB polyps. Mean standard deviation value of malignant polyps was significantly higher than that of benign polyps. All malignant polyps showed either hyperenhancement or marked hyperenhancement. A z value for the diagnosis of malignant GB polyps was 0.905. Margin, shape, and enhancement degree are helpful in differentiating between benign and malignant polyps of 1-2-cm sizes.

Radiological interventions in malignant biliary obstruction

PubMed Central

Madhusudhan, Kumble Seetharama; Gamanagatti, Shivanand; Srivastava, Deep Narayan; Gupta, Arun Kumar

2016-01-01

Malignant biliary obstruction is commonly caused by gall bladder carcinoma, cholangiocarcinoma and metastatic nodes. Percutaneous interventions play an important role in managing these patients. Biliary drainage, which forms the major bulk of radiological interventions, can be palliative in inoperable patients or pre-operative to improve liver function prior to surgery. Other interventions include cholecystostomy and radiofrequency ablation. We present here the indications, contraindications, technique and complications of the radiological interventions performed in patients with malignant biliary obstruction. PMID:27247718

Novel targets for ATM-deficient malignancies

PubMed Central

Winkler, Johannes; Hofmann, Kay; Chen, Shuhua

2014-01-01

Conventional chemo- and radiotherapies for the treatment of cancer target rapidly dividing cells in both tumor and non-tumor tissues and can exhibit severe cytotoxicity in normal tissue and impair the patient's immune system. Novel targeted strategies aim for higher efficacy and tumor specificity. The role of ATM protein in the DNA damage response is well known and ATM deficiency frequently plays a role in tumorigenesis and development of malignancy. In addition to contributing to disease development, ATM deficiency also renders malignant cells heavily dependent on other pathways that cooperate with the ATM-mediated DNA damage response to ensure tumor cell survival. Disturbing those cooperative pathways by inhibiting critical protein components allows specific targeting of tumors while sparing healthy cells with normal ATM status. We review druggable candidate targets for the treatment of ATM-deficient malignancies and the mechanisms underlying such targeted therapies. PMID:27308314

Systemic Sclerosis and Malignancy: A Review of Current Data

PubMed Central

Zeineddine, Nabil; Khoury, Lara El; Mosak, Joseph

2016-01-01

Systemic sclerosis (SSc) is associated with increased risk of malignancy. The organ systems most commonly affected are the lungs, the breasts and the hematological system. Risk factors predisposing a SSc patient for development of malignancy are not well defined, and the pathogenic basis of the association is yet to be explained. The incidence of malignancies in SSc patients is variable from one report to another, but most importantly, questions regarding the role of immunosuppressive therapies and the effect of autoantibodies have weak or sometimes contradictory answers in most of the currently available literature and physicians have no available guidelines to screen their SSc patients for malignancies. The lack of a concretely defined high-risk profile and the absence of malignancy screening guidelines tailored for SSc patients raise the importance of the need for more studies on the association of SSc and cancer and should incite rheumatology colleges to develop specific recommendations for the clinician to follow while approaching patients with SSc. PMID:27540435

Intestinal lymphangiectasia in a patient with infantile systemic hyalinosis syndrome: a rare cause of protein-losing enteropathy.

PubMed

Alreheili, Khalid; AlMehaidib, Ali; Alsaleem, Khalid; Banemi, Mohammad; Aldekhail, Wajeeh; Al-Mayouf, Sulaiman M

2012-01-01

Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disease. Typically, ISH patients present with progressive painful joint contractures, intractable diarrhea, hyperpigmented skin lesions, and peri-anal fleshy nodules. We report a case of a 19-month-old male child with atypical ISH presentation. His main clinical finding was protein-losing enteropathy due to intestinal lymphangectasia. This report is intended to enhance awareness about the gastrointestinal tract presentation of ISH.

Hyperparathyroidism after irradiation for childhood malignancy.

PubMed

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

2009-03-15

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

Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy.

PubMed

Rosas-Vargas, H; Bahi-Buisson, N; Philippe, C; Nectoux, J; Girard, B; N'Guyen Morel, M A; Gitiaux, C; Lazaro, L; Odent, S; Jonveaux, P; Chelly, J; Bienvenu, T

2008-03-01

Mutations in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been shown to cause infantile spasms as well as Rett syndrome-like phenotype. To date, fewer than 20 different mutations have been reported. So far, no clear genotype-phenotype correlation has been established. We screened the entire coding region of CDKL5 in 151 affected girls with a clinically heterogeneous phenotype ranging from encephalopathy with epilepsy to atypical Rett syndrome by denaturing high liquid performance chromatography and direct sequencing, and we identified three novel missense mutations located in catalytic domain (p.Ala40Val, p.Arg65Gln, p.Leu220Pro). Segregation analysis showed that p.Arg65Gln was inherited from the healthy father, which rules out the involvement of CDKL5 in the aetiology of the phenotype in this patient. However, the de novo occurrence was shown for p.Ala40Val and p.Leu220Pro. The p.Ala40Val mutation was observed in two unrelated patients and represented the first recurrent mutation in the CDKL5 gene. For the two de novo mutations, we analysed the cellular localisation of the wild-type and CDKL5 mutants by transfection experiments. We showed that the two CDKL5 mutations cause mislocalisation of the mutant CDKL5 proteins in the cytoplasm. Interestingly these missense mutations that result in a mislocalisation of the CDKL5 protein are associated with severe developmental delay which was apparent within the first months of life characterised by early and generalised hypotonia, and autistic features, and as well as early infantile spasms.

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

PubMed Central

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

2005-01-01

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

Fluorescence-Guided Resection of Malignant Glioma with 5-ALA

PubMed Central

Kaneko, Sadahiro

2016-01-01

Malignant gliomas are extremely difficult to treat with no specific curative treatment. On the other hand, photodynamic medicine represents a promising technique for neurosurgeons in the treatment of malignant glioma. The resection rate of malignant glioma has increased from 40% to 80% owing to 5-aminolevulinic acid-photodynamic diagnosis (ALA-PDD). Furthermore, ALA is very useful because it has no serious complications. Based on previous research, it is apparent that protoporphyrin IX (PpIX) accumulates abundantly in malignant glioma tissues after ALA administration. Moreover, it is evident that the mechanism underlying PpIX accumulation in malignant glioma tissues involves an abnormality in porphyrin-heme metabolism, specifically decreased ferrochelatase enzyme activity. During resection surgery, the macroscopic fluorescence of PpIX to the naked eye is more sensitive than magnetic resonance imaging, and the alert real time spectrum of PpIX is the most sensitive method. In the future, chemotherapy with new anticancer agents, immunotherapy, and new methods of radiotherapy and gene therapy will be developed; however, ALA will play a key role in malignant glioma treatment before the development of these new treatments. In this paper, we provide an overview and present the results of our clinical research on ALA-PDD. PMID:27429612

CT, MRI and PET imaging in peritoneal malignancy

PubMed Central

Sahdev, Anju; Reznek, Rodney H.

2011-01-01

Abstract Imaging plays a vital role in the evaluation of patients with suspected or proven peritoneal malignancy. Nevertheless, despite significant advances in imaging technology and protocols, assessment of peritoneal pathology remains challenging. The combination of complex peritoneal anatomy, an extensive surface area that may host tumour deposits and the considerable overlap of imaging appearances of various peritoneal diseases often makes interpretation difficult. Contrast-enhanced multidetector computed tomography (MDCT) remains the most versatile tool in the imaging of peritoneal malignancy. However, conventional and emerging magnetic resonance imaging (MRI) and positron emission tomography (PET)/CT techniques offer significant advantages over MDCT in detection and surveillance. This article reviews established and new techniques in CT, MRI and PET imaging in both primary and secondary peritoneal malignancies and provides an overview of peritoneal anatomy, function and modes of disease dissemination with illustration of common sites and imaging features of peritoneal malignancy. PMID:21865109

Characteristics of Sarcoidosis in Patients with Previous Malignancy: Causality or Coincidence?

PubMed

Arish, Nissim; Kuint, Rottem; Sapir, Eli; Levy, Liran; Abutbul, Avraham; Fridlender, Zvi; Laxer, Uri; Berkman, Neville

2017-01-01

The association between sarcoidosis and malignancy is poorly defined. Sarcoidosis can precede, be diagnosed concurrently with, or follow malignancy. We describe the clinical and radiological features of patients with sarcoidosis following malignancy to determine whether this association is causal or coincidental. We performed a search for all patients with confirmed sarcoidosis following malignancy in our institution during 2001-2015. Clinical and radiological features, bronchoscopic findings, bronchoalveolar lavage cell counts, and pulmonary function tests (PFTs) were reviewed to evaluate patterns of disease involvement. Details of the histological type of cancer, staging, treatment, and follow-up were reviewed. Twenty-nine patients were identified. The most prevalent malignancies were breast cancer and lymphoma (24% each). Based on the incidence of these malignancies, we estimated the incidence of sarcoidosis was 175 times higher after lymphoma and 38 times higher after breast cancer as compared to the general population. Most patients had early stage cancer (stage I, II) (75%), and only 2 patients (7%) had recurrence of their malignancy after diagnosis of sarcoidosis. Sarcoidosis was diagnosed within 5 years of malignancy in over half the patients, 76% were asymptomatic and 69% had normal PFTs. Mediastinal lymphadenopathy was present in 81% of cases, hilar lymphadenopathy in 67%, and pulmonary parenchymal involvement in 41%. Fifty percent of patients had received Adriamycin, 38% cyclophosphamide, and 33% vincristine. Sarcoidosis following malignancy is indistinguishable from "idiopathic" sarcoidosis, although it is frequently asymptomatic. The high frequency of sarcoidosis after specific cancers but not others, suggests a causative association between malignancy and development of sarcoidosis. © 2017 S. Karger AG, Basel.

Stenting in Malignant Biliary Obstruction.

PubMed

Almadi, Majid A; Barkun, Jeffrey S; Barkun, Alan N

2015-10-01

Decompression of the biliary system in patients with malignant biliary obstruction has been widely accepted and implemented as part of the care. Despite a wealth of literature, there remains a significant amount of uncertainty as to which approach would be most appropriate in different clinical settings. This review covers stenting of the biliary system in cases of resectable or palliative malignant biliary obstruction, potential candidates for biliary drainage, technical aspects of the procedure, as well as management of biliary stent dysfunction. Furthermore, periprocedural considerations including proper mapping of the location of obstruction and the use of antibiotics are addressed. Copyright © 2015 Elsevier Inc. All rights reserved.

Risk factor assessment of endoscopically removed malignant colorectal polyps.

PubMed

Netzer, P; Forster, C; Biral, R; Ruchti, C; Neuweiler, J; Stauffer, E; Schönegg, R; Maurer, C; Hüsler, J; Halter, F; Schmassmann, A

1998-11-01

Malignant colorectal polyps are defined as endoscopically removed polyps with cancerous tissue which has invaded the submucosa. Various histological criteria exist for managing these patients. To determine the significance of histological findings of patients with malignant polyps. Five pathologists reviewed the specimens of 85 patients initially diagnosed with malignant polyps. High risk malignant polyps were defined as having one of the following: incomplete polypectomy, a margin not clearly cancer-free, lymphatic or venous invasion, or grade III carcinoma. Adverse outcome was defined as residual cancer in a resection specimen and local or metastatic recurrence in the follow up period (mean 67 months). Malignant polyps were confirmed in 70 cases. In the 32 low risk malignant polyps, no adverse outcomes occurred; 16 (42%) of the 38 patients with high risk polyps had adverse outcomes (p<0.001). Independent adverse risk factors were incomplete polypectomy and a resected margin not clearly cancer-free; all other risk factors were only associated with adverse outcome when in combination. As no patients with low risk malignant polyps had adverse outcomes, polypectomy alone seems sufficient for these cases. In the high risk group, surgery is recommended when either of the two independent risk factors, incomplete polypectomy or a resection margin not clearly cancer-free, is present or if there is a combination of other risk factors. As lymphatic or venous invasion or grade III cancer did not have an adverse outcome when the sole risk factor, operations in such cases should be individually assessed on the basis of surgical risk.

Malignant transformation of a residual cerebellopontine angle epidermoid cyst.

PubMed

Pikis, Stylianos; Margolin, Emil

2016-11-01

Malignant transformation is a rare but devastating complication following partial resection of an intracranial epidermoid cyst (EC). Time to malignant transformation is highly variable and optimal management is unclear. A literature search from 1965 to January 2016 identified manuscripts discussing clinical presentation, management, and outcome of malignant transformation of a remnant intracranial EC. One male patient diagnosed with malignant transformation of a remnant intracranial EC in our institution was also included in the study. There were 21 patients with malignant transformation of a remnant intracranial EC, including the current patient. Mean age was 51.4years (range 36 to 77) and there was a female predominance (12 women, 9 men, ratio 1.33:1). The mean time interval from partial resection of a benign intracranial EC to malignant transformation was 7.74years (range from 3months to 33years). Surgical resection of the tumor alone was the treatment of choice in 10 patients with one of them requiring a second operation and radiotherapy 2months following the first operation. Adjuvant treatment modalities were employed in 11 patients and included radiotherapy (n=4), stereotactic radiosurgery (SRS) (n=3), chemotherapy (n=1), chemotherapy combined with SRS (n=1) and with radiotherapy (n=1) and radiotherapy combined with SRS and followed by a second tumor resection (n=1). Follow-up period ranged from 1 day to 5years and 11/19 patients (57.8%) were reported dead on follow-up. Prospective studies are required to define the optimal management of malignant transformation of remnant intracranial EC. Copyright © 2016 Elsevier Ltd. All rights reserved.

Monocyte esterase deficiency in malignant neoplasia.

PubMed Central

Markey, G M; McCormick, J A; Morris, T C; Alexander, H D; Nolan, L; Morgan, L M; Reynolds, M E; Edgar, S; Bell, A L; McCaigue, M D

1990-01-01

A survey of the incidence of monocyte esterase deficiency in 4000 inpatients (including 808 with malignant neoplastic disease) and 474 normal controls was performed using an automated esterase method. A highly significant excess of patients with malignant disease and the deficiency was evident when compared with normal controls or all other patients. Within the group of patients with malignant disease the demonstrable excess occurred in B chronic lymphocytic leukaemia, non-Hodgkin's and Hodgkin's lymphoma, and carcinoma of the gastrointestinal tract. There was also a significant excess of patients with the deficiency attending the renal unit, both among patients who had had renal transplants and those who had not. A familial incidence of monocyte esterase deficiency was found in 19 (35%) of first degree relatives of those patients in whom family studies were done. It is suggested that the reason for the increased prevalence of the anomaly in these disorders might be that the diminution of esterase activity has a role in their development. PMID:2341564

Malignant histiocytosis in childhood: morphologic considerations.

PubMed

Jurco, S; Starling, K; Hawkins, E P

1983-12-01

Eight cases diagnosed over a ten-year period as malignant histiocytosis (MH; histiocytic medullary reticulosis) were reviewed to clarify diagnostic criteria for the childhood disease and to identify sources of diagnostic confusion. Five of the eight cases met the authors' criteria for diagnosis; i.e., they were characterized by loose mixed infiltrates composed of three cell types--well-differentiated histiocytes, prohistiocytes, and malignant histiocytes--and they had no leukemic phase. Three cases did not share these features and were reclassified. The liver was found to be the organ most useful in premortem diagnosis, and immunoperoxidase staining for immunoglobulins and lysozyme was also helpful. The clinical and morphologic features of the five cases confirm the authors' view that diagnoses of MH should be limited to cases in which there is a loose pleomorphic population of all three types of histiocytes and that cases with monomorphous populations of aggregated malignant cells should be classified as lymphomas.

[Clinical observation on fuzhong (supporting the middle-jiao) manipulation of tuina for infantile anorexia].

PubMed

Wang, Yuan-Yuan; Liu, Xiao-Ying

2014-01-01

To observe clinical therapeutic effect of fuzhong (supporting the middle-jiao) manipulation of tuina for infantile anorexia. Eighty-one children with anorexia were treated with fuzhong manipulation, including abdominal kneading, acupressure at Zhongwan (CV 12), Lanmen (Extra), Tianshu (ST 25), Zusanli (ST 36), Sanyinjiao (SP 6), spine pinching, warm moxibustion and warm scraping with supporting-yang cupping, three times a week, six times as a session. Onset time, therapeutic effect and TCM symptom scores before and after treatment were observed after two sessions and differences of therapeutic effect among different patterns were compared. Seventy-two children had the effect in one session while 41 children had the effect within half of a session. 38 cases were clinically cured, 15 cases were markedly effective, 23 cases were effective and 5 cases were failed. The total effective rate was 93.8%. Compared with before treatment, TCM symptom scores, including appetite, food intake, complexion and defecation, were all obviously improved after treatment (all P < 0.001). The clinical cured rate was 45.2% (19/42) in the pattern of dysfunction of spleen in transportation, 45.8% (11/24) in the pattern of qi deficiency of spleen and stomach, 50.0% (4/8) in the pattern of yin deficiency of spleen and stomach, 57.1% (4/7) in the pattern of liver sufficiency and spleen insufficiency, which had no obvious differences among different patterns (all P > 0.05). The fuzhong manipulation of tuina has quick onset time and satisfied clinical therapeutic effect, which could obviously improve symptoms and is fit for different patterns of infantile anorexia.

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

PubMed

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

2009-06-25

Head and neck malignancies are characterized by a multiphasic and multifactorial etiopathogenesis. Tobacco and alcohol consumption are the most common risk factors for head and neck malignancy. Other factors, including DNA viruses, especially human papilloma virus (HPV), may also play a role in the initiation or development of these lesions. The pathways of HPV transmission in the head and neck mucosal lesions include oral-genital contact, more than one sexual partner and perinatal transmission of HPV to the neonatal child. The increase in prevalence of HPV infection in these lesions may be due to wider acceptance of oral sex among teenagers and adults as this is perceived to be a form of safe sex. The prevalence of HPV in benign lesions as well as malignancies has been assessed by many techniques. Among these, the polymerase chain reaction is the most sensitive method. Review of literature reveals that HPV may be a risk factor for malignancies, but not in all cases. For confirmation of the role of HPV in head and neck squamous cell carcinoma, large population studies are necessary in an assortment of clinical settings. Prophylactic vaccination against high-risk HPV types eventually may prevent a significant number of cervical carcinomas. Of the two vaccines currently available, Gardasil (Merck & Co., Inc.) protects against HPV types 6, 11, 16 and 18, while the other vaccine, Cervarix (GlaxoSmithKline, Rixensart, Belgium) protects against HPV types 16 and 18 only. However, the HPV vaccine has, to the best of our knowledge, not been tried in head and neck carcinoma. The role of HPV in etiopathogenesis, prevalence in benign and malignant lesions of this area and vaccination strategies are briefly reviewed here.

Non-epithelial malignancies and metastatic tumours of the breast

PubMed Central

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

2009-01-01

Introduction Non-epithelial breast malignancies include primary lymphomas, sarcomas, haematological malignancies, melanomas as well as secondary metastases to the breast. They account for less than 1% of all breast tumours. The demographics and clinical features are similar to epithelial breast cancers but the prognosis and management options are often very different. Most reported series are small with limited follow-up. The main aim of this study was to review our experience for these malignancies and to compare this with the published literature. Methods A 14-year retrospective review of all breast resection specimens was completed in the Antrim Area Hospital Cancer Unit. Clinical records of patients diagnosed with non-epithelial breast malignancies were then reviewed for data regarding patient demographics, clinical presentation, pre-operative investigations, operative findings and outcome. Pathology reports were examined carefully for tumour type, location and for evidence of lymphovascular spread. This data was compared with the available literature. Results Nineteen (F = 16) patients were found to have non-epithelial breast malignancies between April 1994 and August 2007. Mean age was 61.6 years (range 25–86). 17 patients (89.5%) presented with a palpable lump, mastalgia or skin change, while 2 (10.5%) patients' tumours were detected through screening. The histological types of non-epithelial malignancies were as follows: lymphoma (n = 8; M = 1 and F = 7, mean age: 68.5 range 52–86), sarcoma (n = 5; M = 1 and F = 4, mean age 56.4 range 29–69), malignant melanoma (n = 3; M = 1 and F = 2, mean age 54.3 range 25–70), multiple myeloma (n = 1; F, 71), metastatic renal cell carcinoma (n = 1; F, 63) and metastatic carcinoid tumour (n = 1; F, 52). The mean follow-up was 1541 days (32–4589 days). Nine patients were alive at the end of follow-up. Only 1 of 11 deaths was not directly related to the malignancy. The average time from surgery to death was 798

Enzyme replacement therapy in classical infantile pompe disease: results of a ten-month follow-up study.

PubMed

Klinge, L; Straub, V; Neudorf, U; Voit, T

2005-02-01

Infantile Pompe disease (IPD) is a fatal, autosomal recessive muscle-wasting disorder. Due to a deficiency of the lysosomal enzyme acid alpha-glucosidase patients develop a generalized myopathy, diaphragmatic weakness, and cardiomyopathy leading to death usually within the first year of life. So far there is no therapy available. We report on the safety and efficacy of transgenically derived recombinant human precursor acid alpha-glucosidase (rhGAA) in a 10-month follow-up study in two children with IPD who previously completed a 48-week course of enzyme replacement therapy (ERT) with the same medication at the same dose in a phase II clinical trial. Under this therapy cardiac status and muscle strength had improved, leading to survival beyond the age of one year. These results, together with data from two other phase II clinical trials encouraged further evaluation of the long-term safety and efficacy of enzyme replacement therapy in patients with infantile-onset Pompe disease. During the 10-month follow-up period, ERT was well-tolerated and neither patient experienced a single infusion-associated reaction. The initial improvements in cardiac size and function, as measured by left ventricular mass index and the fractional shortening, were maintained in both patients, and a continued improvement of motor function, as measured by the Alberta infant motor scale, was observed.

WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.

PubMed

Jiang, Chen; Gai, Nan; Zou, Yongyi; Zheng, Yu; Ma, Ruiyu; Wei, Xianda; Liang, Desheng; Wu, Lingqian

2017-01-01

Galloway-Mowat syndrome (GMS) is a very rare autosomal-recessive disorder characterized by nephrotic syndrome associated with microcephaly, and various central nervous system abnormalities, mostly cerebral hypoplasia or cerebellar atrophy, intellectual disability and neural-migration defects. WDR73 is the only gene known to cause GMS, and has never been implicated in other disease. Here we present a Chinese consanguineous family with infantile onset intellectual disability and cerebellar hypoplasia but no microcephaly. Whole exome sequencing identified a WDR73 p.W371G missense mutation. The mutation is confirmed to be segregated in this family by Sanger sequencing according to a recessive inheritance pattern. It is predicted to be deleterious by multiple algorithms and affect highly conserved site. Structural modeling revealed conformational differences between the wild type protein and the p.W371G protein. Real-time PCR and Western blotting revealed altered mRNA and protein levels in mutated samples. Our study indicates the novel WDR73 p.W371G missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in recessive mode of inheritance. Our findings imply that microcephaly is a variable phenotype in WDR73-related disease, suggest WDR73 to be a candidate gene of severe intellectual disability and cerebellar hypoplasia, and expand the molecular spectrum of WDR73-related disease. Copyright © 2016 Elsevier B.V. All rights reserved.

CYR61 suppresses growth of human malignant melanoma.

PubMed

Chen, Jun; Liu, Yang; Sun, Qilin; Wang, Beiqing; Li, Ningli; Chen, Xiangdong

2016-11-01

Cysteine-rich protein 61 (CCN1/CYR61) is an important marker of proliferation and metastasis in malignant melanoma, making it a potential target for melanoma treatment. In this study, we compared the expression of CRY61 in Chinese patients with malignant melanoma with its expression in patients with other skin tumors or with no skin pathological conditions. We examined the effects of anti-human CYR61 monoclonal antibody on proliferation and evaluated the changes in CYR61 expression and cell proliferation in response to treatment with either epirubicin or interferon (IFN)-α. CYR61 was expressed at lower levels in patients with malignant melanoma than in patients with other skin tumors or with no pathology. Following the treatment of B16 cells with epirubicin and IFN-α, CYR61 levels increased, cell growth was inhibited, and proliferating cell nuclear antigen expression decreased. Thus, CYR61 could become a therapeutic target for malignant melanoma patients with high CYR61 expression.

Infantile ictal apneas in a child with williams-beuren syndrome.

PubMed

Myers, Kenneth A; McLeod, D Ross; Bello-Espinosa, Luis

2013-02-01

Williams-Beuren syndrome is a genetic disorder rarely associated with seizures. The few described cases of Williams-Beuren syndrome and epilepsy have primarily involved infantile spasms and deletions extending beyond the common deletion region for this disorder. We present the case of a 5-week-old child with ictal apneas and typical Williams-Beuren syndrome deletion. Diagnosis was challenging, because the child had cardiac, respiratory, and gastrointestinal abnormalities typically associated with Williams-Beuren syndrome, which are also associated with cyanotic episodes. The results of interictal electroencephalography were normal, illustrating that prolonged electroencephalography is often essential in evaluation of suspected ictal apneas. Seizure freedom was achieved with carbamazepine. Sudden death is seen in Williams-Beuren syndrome, and this case raises the question whether some of these cases may be related to ictal apneas and could potentially be preventable with appropriate pharmaceutical intervention. Copyright © 2013 Elsevier Inc. All rights reserved.

Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.

PubMed

Sleat, D E; Donnelly, R J; Lackland, H; Liu, C G; Sohar, I; Pullarkat, R K; Lobel, P

1997-09-19

Classical late-infantile neuronal ceroid lipofuscinosis (LINCL) is a fatal neurodegenerative disease whose defective gene has remained elusive. A molecular basis for LINCL was determined with an approach applicable to other lysosomal storage diseases. When the mannose 6-phosphate modification of newly synthesized lysosomal enzymes was used as an affinity marker, a single protein was identified that is absent in LINCL. Sequence comparisons suggest that this protein is a pepstatin-insensitive lysosomal peptidase, and a corresponding enzymatic activity was deficient in LINCL autopsy specimens. Mutations in the gene encoding this protein were identified in LINCL patients but not in normal controls.

Early malignant syphilis*

PubMed Central

Ortigosa, Yara Martins; Bendazzoli, Paulo Salomão; Barbosa, Angela Marques; Ortigosa, Luciena Cegatto Martins

2016-01-01

Early malignant syphilis is a rare and severe variant of secondary syphilis. It is clinically characterized by lesions, which can suppurate and be accompanied by systemic symptoms such as high fever, asthenia, myalgia, and torpor state. We report a diabetic patient with characteristic features of the disease showing favorable evolution of the lesions after appropriate treatment. PMID:28300925

HCG variants, the growth factors which drive human malignancies

PubMed Central

Cole, Laurence A

2012-01-01

The term human chorionic gonadotropin (hCG) refers to a group of 5 molecules, each sharing the common amino acid sequence but each differing in meric structure and carbohydrate side chain structure. The 5 molecules are each produced by separate cells and each having separate biological functions. hCG and sulfated hCG are hormones produced by placental syncytiotrophoblast cells and pituitary gonadotrope cells. Hyperglycosylated hCG is an autocrine produced by placental cytotrophoblast cells. Hyperglycosylated hCG drives malignancy in placental cancers, and in testicular and ovarian germ cell malignancies. hCGβ and hyperglycosylated hCGβ are autocrines produce by most advanced malignancies. These molecules, particularly the malignancy promoters are presented in this review on hCG and cancer. hCGβ and hyperglycosylated hCGβ are critical to the growth and invasion, or malignancy of most advanced cancers. In many ways, while hCG may appear like a nothing, a hormone associated with pregnancy, it is not, and may be at the center of cancer research. PMID:22206043

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

ERIC Educational Resources Information Center

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

2012-01-01

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

[Clinical characteristics and prognosis analysis of vitamin B6 responsive infantile spasms].

PubMed

Xue, Jiao; Yang, Zhixian; Wu, Ye; Xiong, Hui; Zhang, Yuehua; Liu, Xiaoyan

2016-02-01

To analyze clinical characteristics, treatment and prognosis in a cohort of children with vitamin B6 responsive infantile spasms. Ten patients were diagnosed as vitamin B6 responsive infantile spasms in Peking University First Hospital between January 2012 and May 2015.The clinical manifestations, diagnosis and treatment process, video-electroencephalogram, magnetic resonance imaging (MRI), epilepsy related genes and prognosis were retrospectively analyzed. Of the 10 patients, 5 were male, and 5 were female. Eight of them were normal at birth, and the other 2 patients had intracranial hemorrhage or anoxia.The age of epilepsy onset was from 3.5 to 8.0 months.All patients presented spasms primarily.Interictal electroencephalogram (EEG) showed hypsarrhythmia at seizures onset. MRI showed normal in 8 patients, and subarachnoid hemorrhage or multiple encephalomalacia foci after hemorrhage respectively in the other 2 patients. The results of blood biochemical, cerebrospinal fluid examination and urinary metabolic screening were negative. Epilepsy related genes including ALDH7A1 gene analysis showed wild type in all patients. Two patients were classified as symptomatic and eight might be idiopathic or cryptogenic. The initial dose of vitamin B6 was 10.0 mg/(kg·d). The interval between seizures onset and taking vitamin B6 was 0 to 4.0 months. Seizures disappeared completely within a week after administration of vitamin B6 in 9 patients and in 1.5 months in one patient.Of the 8 patients whose seizures were controlled completely during the follow-up period, 7 patients' EEG recovered within 1.5 to 4.0 months and then continued to be normal. The EEG of the rest of a patient returned to normal, but showed abnormal discharges after stopping taking vitamin B6. Two patients' EEG continued abnormal and seizures recurred due to vitamin B6 withdrawal. At the last follow-up, seizures were controlled in all patients. Drug treatment in one case had stopped. Vitamin B6 was used in 9

Drug-eluting stent in malignant biliary obstruction

NASA Astrophysics Data System (ADS)

Lee, Dong-Ki; Jang, Sung Ill

2012-10-01

Endoscopic stent insertion is the treatment of choice for patients with malignant biliary obstruction. However, conventional stents enable only mechanical palliation of the obstruction, without any anti-tumor effects. Drugeluting stent (DES), which was first introduced in coronary artery disease, are currently under investigation for sustaining stent patency and prolonging patient survival by inhibiting tumor ingrowth in malignant biliary obstruction. Many factors affecting efficient drug delivery have been studied to determine how drugs with antitumor effects suppress tumor ingrowth, including the specific drugs incorporated, means of incorporating the drugs, mode of drug release, and stent structure. Advances have resulted in the construction of more effective non-vascular DES and ongoing clinical research. Non-vascular DES is expected to play a vital role in prolonging the survival of patients with malignant biliary obstruction.

Hyperparathyroidism After Irradiation for Childhood Malignancy

DOE Office of Scientific and Technical Information (OSTI.GOV)

McMullen, Todd; Bodie, Greg; Gill, Anthony

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

Malignant glaucoma after cataract surgery.

PubMed

Varma, Devesh K; Belovay, Graham W; Tam, Diamond Y; Ahmed, Iqbal Ike K

2014-11-01

To report a series of eyes that developed malignant glaucoma after cataract surgery. Private academic practice, Toronto, Ontario, Canada. Retrospective case series. Eyes that developed malignant glaucoma after cataract surgery were treated with medical therapy. This was followed by laser iridozonulohyaloidotomy, anterior chamber reformation and intraocular lens (IOL) pushback, and finally with surgical iridozonulohyaloidovitrectomy if all other measures were unsuccessful. Refraction, intraocular pressure (IOP), gonioscopy, and anterior chamber depth (ACD) by anterior segment optical coherence tomography were analyzed before treatment and after treatment. The study evaluated 20 eyes of 18 female patients aged 44 to 86 years. Preoperatively, the mean refraction was +3.11 diopters (D) ± 2.89 (SD), the mean axial length was 21.30 ± 1.40 mm, and all eyes had narrow or closed angles. Malignant glaucoma was diagnosed a mean of 5.8 ± 7.1 weeks postoperatively. At diagnosis, the mean refraction was -2.15 ± 2.95 D; the mean ACD, 2.49 ± 0.72 mm; and the mean IOP, 28.3 ± 10.8 mm Hg on a mean of 1.3 ± 1.6 medications. Two eyes responded to cycloplegia, 7 to laser iridozonulohyaloidotomy, and 6 to anterior chamber reformation-IOL pushback; 5 eyes required vitrectomy. Posttreatment, the mean refraction was -0.56 ± 1.07 D; the mean ACD, 3.30 ± 0.50 mm; and the mean IOP, 14.4 ± 4.60 mm Hg on a mean of 1.2 ± 1.4 medications. Cycloplegia was discontinued in 17 eyes. Malignant glaucoma can occur after phacoemulsification and presents with myopic surprise, anterior chamber shallowing and, possibly, elevated IOP. No author has a financial or proprietary interest in any material or method mentioned. Copyright © 2014 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

Microenvironmental regulation of the progression of oral potentially malignant disorders towards malignancy

PubMed Central

Ai, Ruixue; Tao, Yan; Hao, Yilong; Jiang, Lu; Dan, Hongxia; Ji, Ning; Zeng, Xin; Zhou, Yu; Chen, Qianming

2017-01-01

Oral potentially malignant disorders (OPMD) develop in a complex tissue microenvironment where they grow sustainably, acquiring oral squamous cell carcinoma (OSCC) characteristics. The malignant tumor depends on interactions with the surrounding microenvironment to achieve loco-regional invasion and distant metastases. Unlike abnormal cells, the multiple cell types in the tissue microenvironment are relatively stable at the genomic level and, thus, become therapeutic targets with lower risk of resistance, decreasing the risk of OPMD acquiring cancer characteristics and carcinoma recurrence. However, deciding how to disrupt the OPMD and OSCC microenvironments is itself a daunting challenge, since their microenvironments present opposite capacities, resulting in diverse consequences. Furthermore, recent studies revealed that tumor-associated immune cells also participate in the process of differentiation from OPMD to OSCC, suggesting that reeducating stromal cells may be a new strategy to prevent OPMD from acquiring OSCC characteristics and to treat OSCC. In this review, we discuss the characteristics of the microenvironment of OPMD and OSCC as well as new therapeutic strategies. PMID:29113419

Orbitotomy for retrobulbar malignant fibrous histiocytoma in a dog.

PubMed

Lassaline, Mary E; Gelatt, Kirk N; Brooks, Dennis E; Ellison, Gary W

2005-01-01

A retrobulbar malignant fibrous histiocytoma was diagnosed in a 12-year-old castrated male Keeshond dog. The mass was excised with a lateral orbitotomy and zygomatic arch resection. Vision was preserved in the affected eye, and no recurrence was noted up to 10 months postoperatively. Malignant fibrous histiocytoma originates from primitive mesenchymal stem cells. The malignant fibrous histiocytoma seen in our patient was most consistent with the storiform-pleomorphic variant, given the storiform arrangement of spindle cells, the presence of histiocytoid cells, and a mixed inflammatory infiltrate, without giant cells. The metastatic potential of malignant fibrous histiocytoma in general, and the storiform variant in particular, is unknown. Seventeen months later the dog was presented to the referring veterinarian with anorexia, diarrhea, weight loss and bilateral purulent nasal exudates. The dog was euthanized without necropsy.

Paralysis Episodes in Carbonic Anhydrase II Deficiency.

PubMed

Al-Ibrahim, Alia; Al-Harbi, Mosa; Al-Musallam, Sulaiman

2003-01-01

Carbonic anhydrase II (CAII) deficiency is an autosomal recessive disorder manifest by osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features include growth failure and mental retardation. Complications of the osteopetrosis include frequent bone fractures, cranial nerve compression, and dental mal-occlusion. A hyper-chloremic metabolic acidosis, sometimes with hypokalemia, occurs due to renal tubular acidosis that may be proximal, distal, or more commonly, the combined type. Such patients may present with global hypotonia, muscle weakness or paralysis. We report a case of CA II deficiency with recurrent attacks of acute paralysis which was misdiagnosed initially as Guillian-Barre syndrome.

Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD.

PubMed

Picker-Minh, Sylvie; Mignot, Cyril; Doummar, Diane; Hashem, Mais; Faqeih, Eissa; Josset, Patrice; Dubern, Béatrice; Alkuraya, Fowzan S; Kraemer, Nadine; Kaindl, Angela M

2016-04-29

Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) has been recently linked to biallelic mutation of the peptidyl-tRNA hydrolase 2 gene PTRH2. Two index patients with IMNEPD in the original report had multiple neurological symptoms such as postnatal microcephaly, intellectual disability, developmental delay, sensorineural deafness, cerebellar atrophy, ataxia, and peripheral neuropathy. In addition, distal muscle weakness and abnormalities of thyroid, pancreas, and liver were found. Here, we report five further IMNEPD patients with a different homozygous PTRH2 mutation, broaden the phenotypic spectrum of the disease and differentiate common symptoms and interindividual variability in IMNEPD associated with a unique mutation. We thereby hope to better define IMNEPD and promote recognition and diagnosis of this novel disease entity.

Palliative management of malignant upper urinary tract obstruction

PubMed Central

Sountoulides, P; Mykoniatis, I; Dimasis, N

2014-01-01

Malignancies of the genitourinary tract are diagnosed with increased frequency compared to the past. Currently prostate and bladder cancer account for the majority of urological malignancies. While for prostate cancer recent developments in the management of local and metastatic disease are likely to lead the majority of patients to either cure from the disease or to longer survival time, for bladder cancer advanced disease will unfortunately lead to death within months. However, the common clinical scenario in both prostate and bladder cancer includes, in high incidence, upper urinary tract obstruction in the advanced stages of these malignancies. This coupled with the fact that average life expectancy in the western world is increasing, will result in a significant patient population with either advanced, non-curable disease or with problems related to the received therapeutic surgical or medical interventions. There is no doubt that in both circumstances the room and role of palliation therapy is increasing. The care of patients with advanced urologic malignancies requires a multi-disciplinary effort from physicians of many specialties under the guiding role of the treating urologist. This review focuses on currently available palliative therapeutic options for upper urinary tract obstruction in the setting of patients with advanced malignancies of the urinary tract, as recently significant advancements have been witnessed in this field. PMID:26052193

Palliative management of malignant upper urinary tract obstruction.

PubMed

Sountoulides, P; Mykoniatis, I; Dimasis, N

2014-01-01

Malignancies of the genitourinary tract are diagnosed with increased frequency compared to the past. Currently prostate and bladder cancer account for the majority of urological malignancies. While for prostate cancer recent developments in the management of local and metastatic disease are likely to lead the majority of patients to either cure from the disease or to longer survival time, for bladder cancer advanced disease will unfortunately lead to death within months. However, the common clinical scenario in both prostate and bladder cancer includes, in high incidence, upper urinary tract obstruction in the advanced stages of these malignancies. This coupled with the fact that average life expectancy in the western world is increasing, will result in a significant patient population with either advanced, non-curable disease or with problems related to the received therapeutic surgical or medical interventions. There is no doubt that in both circumstances the room and role of palliation therapy is increasing. The care of patients with advanced urologic malignancies requires a multi-disciplinary effort from physicians of many specialties under the guiding role of the treating urologist. This review focuses on currently available palliative therapeutic options for upper urinary tract obstruction in the setting of patients with advanced malignancies of the urinary tract, as recently significant advancements have been witnessed in this field.

Systemic antibiotics for treating malignant wounds.

PubMed

Ramasubbu, Darshini A; Smith, Valerie; Hayden, Fiona; Cronin, Patricia

2017-08-24

Malignant wounds are a devastating complication of cancer. They usually develop in the last six months of life, in the breast, chest wall or head and neck regions. They are very difficult to treat successfully, and the commonly associated symptoms of pain, exudate, malodour, and the risk of haemorrhage are extremely distressing for those with advanced cancer. Treatment and care of malignant wounds is primarily palliative, and focuses on alleviating pain, controlling infection and odour from the wound, managing exudate and protecting the surrounding skin from further deterioration. In malignant wounds, with tissue degradation and death, there is proliferation of both anaerobic and aerobic bacteria. The aim of antibiotic therapy is to successfully eliminate these bacteria, reduce associated symptoms, such as odour, and promote wound healing. To assess the effects of systemic antibiotics for treating malignant wounds. We searched the following electronic databases on 8 March 2017: the Cochrane Wounds Specialised Register, the Cochrane Central Register of Controlled Trials (CENTRAL; the Cochrane Library, 2017, Issue 3), Ovid MEDLINE, Ovid Embase and EBSCO CINAHL Plus. We also searched the clinical trial registries of the World Health Organization (WHO) International Clinical Trials Registry Platform (apps.who.int/trialsearch) and ClinicalTrials.gov on 20 March 2017; and OpenSIGLE (to identify grey literature) and ProQuest Dissertations & Theses Global (to retrieve dissertation theses related to our topic of interest) on 13 March 2017. Randomised controlled trials that assessed the effects of any systemic antibiotics on malignant wounds were eligible for inclusion. Two review authors independently screened and selected trials for inclusion, assessed risk of bias and extracted study data. A third reviewer checked extracted data for accuracy prior to analysis. We identified only one study for inclusion in this review. This study was a prospective, double-blind cross

Malignant tumors of childhood

DOE Office of Scientific and Technical Information (OSTI.GOV)

Brooks, B.J.

1986-01-01

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

Considering Valproate as a Risk Factor for Rapid Exacerbation of Complex Movement Disorder in Progressed Stages of Late-Infantile CLN2 Disease.

PubMed

Johannsen, Jessika; Nickel, Miriam; Schulz, Angela; Denecke, Jonas

2016-06-01

Neuronal ceroid lipofuscinosis type 2 (CLN2 disease, OMIM 204500) is a rare autosomal-recessive lysosomal storage disorder. It is one of the most common neurodegenerative disorders in childhood. Symptoms include epilepsy, rapid motor and language regression, dementia, visual loss, and a complex movement disorder in later stages of the disease. We report on two children with genetically confirmed late-infantile CLN2 disease who developed a severe exacerbation of their complex movement disorder leading to hyperthermia, hyper-CK-emia and decreased level of consciousness over several weeks despite different therapeutic approaches. Both patients were on long-term antiepileptic treatment with valproate and only after the withdrawal of valproate, the movement disorder disappeared and level of consciousness improved. These observations emphasize that valproate has to be considered as a possible risk factor in patients in later stages of late-infantile CLN2 disease who develop a rapidly progressive complex movement disorder. Georg Thieme Verlag KG Stuttgart · New York.

Sequential Stenting for Extensive Malignant Airway Stenosis

PubMed Central

Takahama, Makoto; Nakajima, Ryu; Kimura, Michitaka; Tei, Keiko; Yamamoto, Ryoji

2014-01-01

Purpose: Malignant airway stenosis extending from the bronchial bifurcation to the lower lobar orifice was treated with airway stenting. We herein examine the effectiveness of airway stenting for extensive malignant airway stenosis. Methods: Twelve patients with extensive malignant airway stenosis underwent placement of a silicone Dumon Y stent (Novatech, La Ciotat, France) at the tracheal bifurcation and a metallic Spiral Z-stent (Medico’s Hirata, Osaka, Japan) at either distal side of the Y stent. We retrospectively analyzed the therapeutic efficacy of the sequential placement of these silicone and metallic stents in these 12 patients. Results: The primary disease was lung cancer in eight patients, breast cancer in two patients, tracheal cancer in one patient, and thyroid cancer in one patient. The median survival period after airway stent placement was 46 days. The Hugh–Jones classification and performance status improved in nine patients after airway stenting. One patient had prolonged hemoptysis and died of respiratory tract hemorrhage 15 days after the treatment. Conclusion: Because the initial disease was advanced and aggressive, the prognosis after sequential airway stent placement was significantly poor. However, because respiratory distress decreased after the treatment in most patients, this treatment may be acceptable for selected patients with extensive malignant airway stenosis. PMID:25273272

Molecular and genetic insights into an infantile epileptic encephalopathy – CDKL5 disorder

PubMed Central

Zhou, Ailing; Han, Song

2017-01-01

Background The discovery that mutations in cyclin-dependent kinase-like 5 (CDKL5) gene are associated with infantile epileptic encephalopathy has stimulated world-wide research effort to understand the molecular and genetic basis of CDKL5 disorder. Given the large number of literature published thus far, this review aims to summarize current genetic studies, draw a consensus on proposed molecular functions, and point to gaps of knowledge in CDKL5 research. Methods A systematic review process was conducted using the PubMed search engine focusing on CDKL5 studies in the recent ten years. We analyzed these publications and summarized the findings into four sections: genetic studies, CDKL5 expression patterns, molecular functions, and animal models. We also discussed challenges and future directions in each section. Results On the clinical side, CDKL5 disorder is characterized by early onset epileptic seizures, intellectual disability, and stereotypical behaviors. On the research side, a series of molecular and genetic studies in human patients, cell cultures and animal models have established the causality of CDKL5 to the infantile epileptic encephalopathy, and pointed to a key role for CDKL5 in regulating neuronal function in the brain. Mouse models of CDKL5 disorder have also been developed, and notably, manifest behavioral phenotypes, mimicking numerous clinical symptoms of CDKL5 disorder and advancing CDKL5 research to the preclinical stage. Conclusions Given what we have learned thus far, future identification of robust, quantitative, and sensitive outcome measures would be the key in animal model studies, particularly in heterozygous females. In the meantime, molecular and cellular studies of CDKL5 should focus on mechanism-based investigation and aim to uncover druggable targets that offer the potential to rescue or ameliorate CDKL5 disorder-related phenotypes. PMID:28580010

The development of the trabecular meshwork and its abnormality in primary infantile glaucoma.

PubMed Central

Anderson, D R

1981-01-01

Tissue from ten eyes with infantile glaucoma and from 40 normal eyes of fetuses and infants without glaucoma were examined by light and electron microscopy. In normal development, the corneoscleral coat grows faster than the uveal tract during the last trimester, leading to a posterior migration of the ciliary body attachment from Schwalbe's line (5th month) to the scleral spur (9th month), and then to a location behind the scleral spur (postnatally). In infantile glaucoma, the insertion of the anterior ciliary body and iris overlaps the trabecular meshwork, similar to the late fetal position. The trabecular sheets are perforated, and there is no membrane over the surface of the trabecular meshwork. The trabecular beams are thicker than in normal infant eyes. There is both histologic and clinical evidence of traction on the iris root exerted by the thickened trabecular beams. These findings suggest that in congenital glaucoma the thickened beams had prevented the normal posterior migration of the ciliary body and iris root. This traction may compact the thickened trabecular beams, obstructing aqueous humor outflow. Release of the traction by an incision (goniotomy or trabeculotomy) of the thickened meshwork may relieve the obstruction. Of uncertain pathological significance is that there are no vacuoles in the endothelium of Schlemm's canal and there is a broad layer of collagen and amorphous material in the juxtacanalicular connective tissue. The ciliary processes are elongated inward, as if they were pulled by zonular traction (perhaps created by an enlarging diameter of the limbus with a fixed lens diameter). Images FIGURE 7 FIGURE 8 FIGURE 10 FIGURE 11 FIGURE 20 A FIGURE 20 B FIGURE 1 FIGURE 3 FIGURE 4 A FIGURE 4 B FIGURE 5 A FIGURE 5 B FIGURE 6 FIGURE 9 FIGURE 12 FIGURE 13 FIGURE 14 FIGURE 15 FIGURE 16 FIGURE 17 FIGURE 18 FIGURE 19 PMID:7342408

Immunotherapy for Gastrointestinal Malignancies

PubMed Central

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

2016-01-01

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

Malignant external otitis: early scintigraphic detection

DOE Office of Scientific and Technical Information (OSTI.GOV)

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

1984-02-01

Pseudomonas otitis externa in elderly diabetics may extend aggressively to adjacent bone, cranial nerves, meninges, and vessels, leading to a clinical diagnosis of ''malignant'' external otitis. Early diagnosis is necessary for successful treatment. This study compares the findings of initial radiographs, thin-section tomography of temporal bone, CT scans of head and neck, technetium-99m methylene diphosphonate (MDP) and gallium-67 citrate scintigraphy, and single-photon emission computed tomography (SPECT) for detection of temporal bone osteomylitis in ten patients fulfilling the clinical diagnostic criteria of malignant external otitis. Skull radiographs were negative in all of the eight patients studied. Thin-section tomography was positive inmore » one of the seven patients studied using this modality. CT scanning suggested osteomyelitis in three of nine patients. Both Tc-99m and Ga-67 citrate scintigraphy were positive in 10 of 10 patients. These results suggest that technetium and gallium scintigraphy are more sensitive than radiographs and CT scans for early detection of malignant external otitis.« less

[Sonographically detectable splenic disorders in dogs with malignant lymphoma].

PubMed

Eberhardt, F; Köhler, C; Krastel, D; Winter, K; Alef, M; Kiefer, I

2015-01-01

To evaluate the frequency of different sonographic splenic disorders in dogs with different anatomic forms of malignant lymphoma. Additionally, the occurrence of the moth-eaten pattern in the parenchyma of the spleen in patients with diseases other than lymphoma should be investigated. Retrospective analysis of patient data collected from dogs histologically or cytologically diagnosed with malignant lymphoma and for which ultrasonographic images were available before the initiation of therapy. Patient data from dogs with a moth-eaten pattern within the splenic parenchyma were evaluated separately. Exclusion criterion was the administration of cytostatic agents prior to diagnosis. In 84% of 164 dogs with malignant lymphoma, an altered pattern of the spleen was diagnosed ultrasonographically. Ninety-four of these 137 patients had a moth-eaten pattern of the splenic parenchyma and 43 dogs displayed abnormalities in the form of splenomegaly, coarse echotexture or other changes of the parenchyma. When a moth-eaten pattern was diagnosed, the affected dogs suffered significantly more often from a multicentric lymphoma (95%) than from any other anatomical lymphoma form. Only one dog displayed a moth-eaten pattern of the splenic parenchyma without diagnosis of a malignant lymphoma. The positive predictive value of the moth-eaten pattern for malignant lymphoma was 99% and, in particular, for the multicentric lymphoma this was 95%. In total, 84% of the 164 dogs displayed a multicentric lymphoma, 5% a mediastinal or a cutaneous lymphoma, respectively, 4% a gastrointestinal lymphoma, and one animal had an ocular or renal lymphoma, respectively. Sonographic changes of the spleen are often diagnosed in dogs with malignant lymphoma, independent of the anatomical lymphoma form. When the moth-eaten pattern is observed, it is very likely that the affected dog suffers from a malignant lymphoma, most probably a multicentric lymphoma.

Malignant and Tuberculous Pleural Effusions: Immunophenotypic Cellular Characterization

PubMed Central

de Aguiar, Lucia Maria Zanatta; Antonangelo, Leila; Vargas, Francisco S.; Zerbini, Maria Cláudia Nogueira; Sales, Maria Mirtes; Uip, David E.; Saldiva, Paulo Hilário Nascimento

2008-01-01

INTRODUCTION AND OBJECTIVES Tuberculosis and cancer are the main causes of pleural effusion. Pleural involvement is associated with migration of immune cells to the pleural cavity. We sought to characterize the immunophenotype of leukocytes in the pleural effusion and peripheral blood of patients with tuberculosis or malignancy. METHODS Thirty patients with tuberculosis (14) or malignancy (16) were studied. A control group included 20 healthy blood donors. RESULTS Malignant phycoerythrin pleural effusions showed higher percentages of CD3, CD4, CD3CD45RO, and CD20CD25 lymphocytes and lower percentages of CD3CD25 and CD20HLA-DR when compared to PB lymphocytes. Compared to PB, tuberculous effusions had a higher percentage of lymphocytes that co-expressed CD3, CD4, CD3CD45RO, CD3TCRαβ, CD3CD28, and CD20 and a lower percentage of CD14, CD8 and CD3TCRγδ-positive lymphocytes. Malignant effusions presented higher expression of CD14 whereas tuberculous effusions had higher expression of CD3 and CD3CD95L. Peripheral blood cells from tuberculosis patients showed higher expression of CD14, CD20CD25 and CD3CD95L. Compared with the control cells, tuberculosis and cancer peripheral blood cells presented a lower percentage of CD3CD4 and CD3CD28-positive cells as well as a higher percentage of CD3CD8, CD3CD25 and CD3CD80-positive cells. CONCLUSIONS Tuberculous and malignant peripheral blood is enriched with lymphocytes with a helper/inducer T cell phenotype, which are mainly of memory cells. CD14-positive cells were more frequently found in malignant effusions, while CD3-positive cells expressing Fas ligand were more frequently found in tuberculous effusions. PMID:18925324

Malignant syphilis in an immunocompetent female patient*

PubMed Central

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

2014-01-01

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

[Three infants with constipation and muscular weakness: infantile botulism].

PubMed

Thomasse, Y; Arends, J P; van der Heide, P A; Smit, L M E; van Weerden, T W; Fock, J M

2005-04-09

Two previously healthy infants, a boy of 10 weeks and a girl of 4 months presented with apathy and muscle weakness. A third previously healthy child, a girl of 6 weeks old was admitted with respiratory insufficiency. None of the three had had a bowel movement for a number of days. After extensive investigations which revealed few abnormalities Clostridium botulinum toxin was obtained in serum from all three children. Type-B-toxin was shown in the faeces of the older girl and boy; both recovered quickly. The other girl had type-A toxin; she died. Two of the three children were given honey to comfort them. Infantile botulism must be considered in every infant with symptoms of constipation and hypotonia. The diagnosis can quickly be confirmed by electromyography with repetitive 50-Hz-stimulation. Honey is a well-known source of the C. botulinum spore and should not be given to children under the age of 12 months. These three children are the first cases to be described in the Netherlands.

Lack of HPV in Benign and Malignant Epithelial Ovarian Tumors in Iran

PubMed

Farzaneh, Farah; Nadji, Seyed Alireza; Khosravi, Donya; Hosseini, Maryam Sadat; Hashemi Bahremani, Mohammad; Chehrazi, Mohammad; Bagheri, Ghazal; Sigaroodi, Afsaneh; Haghighatian, Zahra

2017-05-01

Background: Ovarian epithelial tumors one of the most common gynecological neoplasms; we here evaluated the presence of HPV in benign and malignant examples. Methods: In this cross-sectional study the records of 105 patients with epithelial ovarian tumors (benign and malignant) referred to Imam Hossein University Hospital from 2012 to 2015 were evaluated along with assessment of the presence of the HPV infection using PCR. Results: Among 105 patients, comprising 26 (24.8%) with malignant and 79 (75.2%) with benign lesions, the factors found to impact on malignancy were age at diagnosis, age at first pregnancy, number of pregnancies and hormonal status. However, malignancies was not related to abortion, late menopause, and early menarche. In none of the ovarian tissues (benign and malignant) was HPV DNA found. Conclusion: In this study HPV DNA could not be found in any epithelial ovarian tumors (benign and malignant) removed from 105 women; more studies with larger sample size are needed for a definite conclusion. Creative Commons Attribution License

Malignant Mesothelioma Symptoms, Tests, Prognosis, and Stages (PDQ®)—Patient Version

Cancer.gov

Malignant mesothelioma forms in the thin layer of tissue that covers the lung, chest wall, or abdomen, and rarely, in the heart or testicles. Asbestos exposure is the most common cause of malignant mesothelioma. Find out about signs and symptoms, diagnostic tests, prognosis, and stages of malignant mesothelioma.

Geographical differences in the distribution of malignant tumours*

PubMed Central

Chaklin, A. V.

1962-01-01

Malignant tumours are encountered among all races and in every type of geographical zone, but there are marked differences in different areas in the prevalence of particular forms of tumour—differences that are to a greater or lesser extent dependent on factors such as the climate and geography of the region and the habits, customs and occupations of the people. The study of these factors in relation to the occurrence of malignant tumours is of great importance in reaching an understanding of the etiology of tumours in man. In this paper the author discusses the many problems involved in the study of regional features in the prevalence of malignant tumours, with special reference to the difficulties of ensuring comparability of the data from widely differing regions and population groups. He concludes the paper with a review of some known facts regarding the distribution of malignant tumours at various sites in which he compares data obtained in surveys in the USSR with those obtained in other countries. PMID:14019866

Proposed Terminology and Classification of Pre-Malignant Neoplastic Conditions: A Consensus Proposal.

PubMed

Valent, Peter; Akin, Cem; Arock, Michel; Bock, Christoph; George, Tracy I; Galli, Stephen J; Gotlib, Jason; Haferlach, Torsten; Hoermann, Gregor; Hermine, Olivier; Jäger, Ulrich; Kenner, Lukas; Kreipe, Hans; Majeti, Ravindra; Metcalfe, Dean D; Orfao, Alberto; Reiter, Andreas; Sperr, Wolfgang R; Staber, Philipp B; Sotlar, Karl; Schiffer, Charles; Superti-Furga, Giulio; Horny, Hans-Peter

2017-12-01

Cancer evolution is a step-wise non-linear process that may start early in life or later in adulthood, and includes pre-malignant (indolent) and malignant phases. Early somatic changes may not be detectable or are found by chance in apparently healthy individuals. The same lesions may be detected in pre-malignant clonal conditions. In some patients, these lesions may never become relevant clinically whereas in others, they act together with additional pro-oncogenic hits and thereby contribute to the formation of an overt malignancy. Although some pre-malignant stages of a malignancy have been characterized, no global system to define and to classify these conditions is available. To discuss open issues related to pre-malignant phases of neoplastic disorders, a working conference was organized in Vienna in August 2015. The outcomes of this conference are summarized herein and include a basic proposal for a nomenclature and classification of pre-malignant conditions. This proposal should assist in the communication among patients, physicians and scientists, which is critical as genome-sequencing will soon be offered widely for early cancer-detection. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

Single-fraction stereotactic body radiation therapy for sinonasal malignant melanoma.

PubMed

Bourgeois, Daniel J; Singh, Anurag K

2015-03-01

A rare head and neck disease that may benefit from definitive or palliative stereotactic body radiation therapy (SBRT) is sinonasal malignant melanoma. These tumors can be very aggressive and often lead to severe epistaxis and significant mass effect. Results from only a handful of head and neck sinonasal malignant melanoma treated with SBRT are available in the current literature. The following reports on 2 cases of sinonasal malignant melanoma that recurred postoperatively and were subsequently treated at Roswell Park with SBRT. Both were treated with a single fraction of 15 Gy. Nearly instant relief of their chronic epistaxis and complete responses were seen in both patients. One patient is alive and free of disease 7 years after radiation. These patients with sinonasal malignant melanoma achieved symptomatic relief of severe bleeding and airway issues from single-fraction SBRT. SBRT should be considered as a treatment option in patients with unresectable sinonasal malignant melanoma. © 2014 Wiley Periodicals, Inc.

Endoscopic Stent Placement in the Palliation of Malignant Biliary Obstruction

PubMed Central

2011-01-01

Biliary drainage with biliary stent placement is the treatment of choice for palliation in patients with malignant biliary obstruction caused by unresectable neoplasms. In such patients, the endoscopic approach can be initially used with percutaneous radiological intervention. In patients with unresectable malignant distal bile duct obstructions, endoscopic biliary drainage with biliary stent placement has now become the main and least invasive palliative modality, which has been proven to be more effective in >80% of cases with lower morbidity than surgery, and perhaps may provide a survival benefit. In patients with unresectable malignant hilar obstruction, the endoscopic approach for biliary drainage with biliary stent placement has also been considered as the treatment of choice. There is still a lack of clear consensus on the use of covered versus uncovered metal stents in malignant distal bile duct obstructions and plastic versus metal stents and unilateral versus bilateral drainage in malignant hilar obstructions. PMID:22741117

Malignancy Risk Models for Oral Lesions

PubMed Central

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

2013-01-01

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

Pseudoprogression in boron neutron capture therapy for malignant gliomas and meningiomas

PubMed Central

Miyatake, Shin-Ichi; Kawabata, Shinji; Nonoguchi, Naosuke; Yokoyama, Kunio; Kuroiwa, Toshihiko; Matsui, Hideki; Ono, Koji

2009-01-01

Pseudoprogression has been recognized and widely accepted in the treatment of malignant gliomas, as transient increases in the volume of the enhanced area just after chemoradiotherapy, especially using temozolomide. We experienced a similar phenomenon in the treatment of malignant gliomas and meningiomas using boron neutron capture therapy (BNCT), a cell-selective form of particle radiation. Here, we introduce representative cases and analyze the pathogenesis. Fifty-two cases of malignant glioma and 13 cases of malignant meningioma who were treated by BNCT were reviewed retrospectively mainly via MR images. Eleven of 52 malignant gliomas and 3 of 13 malignant meningiomas showed transient increases of enhanced volume in MR images within 3 months after BNCT. Among these cases, five patients with glioma underwent surgery because of suspicion of relapse. In histology, most of the specimens showed necrosis with small amounts of residual tumor cells. Ki-67 labeling showed decreased positivity compared with previous samples from the individuals. Fluoride-labeled boronophenylalanine PET was applied in four and two cases of malignant gliomas and meningiomas, respectively, at the time of transient increase of lesions. These PET scans showed decreased lesion:normal brain ratios in all cases compared with scans obtained prior to BNCT. With or without surgery, all lesions were decreased or stable in size during observation. Transient increases in enhanced volume in malignant gliomas and meningiomas immediately after BNCT seemed to be pseudoprogression. This pathogenesis was considered as treatment-related intratumoral necrosis in the subacute phase after BNCT. PMID:19289492

Increased Risk of Post-Transplant Malignancy and Mortality in Transplant Tourists

PubMed Central

Chung, Mu-Chi; Wu, Ming-Ju; Chang, Chao-Hsiang; Muo, Chih-Hsin; Yu, Tung-Min; Ho, Hao-Chung; Shu, Kuo-Hsiung; Chung, Chi-Jung

2014-01-01

Abstract Information on post-transplant malignancy and mortality risk in kidney transplant tourists remains controversial and is an important concern. The present study aimed to evaluate the incidence of post-transplant malignancy and mortality risk between tourists and domestic transplant recipients using the claims data from Taiwan's universal health insurance. A retrospective study was performed on 2394 tourists and 1956 domestic recipients. Post-transplant malignancy and mortality were defined from the catastrophic illness patient registry by using the International Classification of Diseases, 9th Revision. Cox proportional hazard regression and Kaplan–Meier curves were used for the analyses. The incidence for post-transplant de novo malignancy in the tourist group was 1.8-fold higher than that of the domestic group (21.8 vs 12.1 per 1000 person-years). The overall cancer recurrence rate was approximately 11%. The top 3 post-transplant malignancies, in decreasing order, were urinary tract, kidney, and liver cancers, regardless of the recipient type. Compared with domestic recipients, there was significant higher mortality risk in transplant tourists (adjusted hazard ratio = 1.2, 95% confidence interval: 1.0–1.5). In addition, those with either pre-transplant or post-transplant malignancies were associated with increased mortality risk. We suggest that a sufficient waiting period for patients with pre-transplant malignancies should be better emphasized to eliminate recurrence, and transplant tourists should be discouraged because of the possibility of higher post-transplant de novo malignancy occurrence and mortality. PMID:25546686

Social functioning of elderly persons with malignant diseases.

PubMed

Berat, Svetlana; Nešković-Konstantinović, Zora; Nedović, Goran; Rapaić, Dragan; Marinković, Dragan

2015-01-01

Malignant disease, its treatment and consequences of treatment can often lead to social marginalization and reduced quality of life. The aim of this research was to determine how elderly patients with malignant diseases function in their social environment. Sociodemographic questionnaire and interview were used to investigate a group of 49 elderly persons undergoing adjuvant chemotherapy treatment against early carcinomas (P1), and a group of 51 elderly persons with advanced stages of cancer undergoing systemic chemotherapy (P2). There were two cycles of assessment: one just before the beginning of the first cycle of adjuvant or systemic chemotherapy, and the other three months later. The research paradigm was based on the relation between individual treatment and the impact of the malignant disease on functional and social incompetence. The obtained findings were compared with the group of 50 healthy elderly people (K) who share the same relevant features but do not suffer from malignant diseases. It was found that most healthy older people live in share house, whereas those who suffer from malignant diseases mostly live in separate households. In both groups of patients and healthy group older people are mostly taken care of by their children. Individuals in both groups of patients have been frequently visited by their relatives during initial stages of treatment, unlike the elderly people in the control group. However, the difference did not reach a statistical significance. Three months after the beginning of chemotherapy, there was a statistically relevant difference in favor of the group undergoing adjuvant treatment. Home visits eventually become less frequent, whereas communication by telephone becomes more frequent. It was also found that visits by friends and neighbors are statistically more frequent among subjects who undergo adjuvant treatment, both before the treatment began and three months later when compared to other groups. Our research shows that

Microspectroscopic Analysis Of HpD Fluorescence In Bioptic Samples From Human Pre-Malignant And Malignant Lesions Of The Skin

NASA Astrophysics Data System (ADS)

Bottiroli, G.; Dell'Acqua, R.; Jucci, A.; Ricevuti, G.; Sacchi, A. S.

1987-07-01

Microfluorometric analysis was performed on bioptic samples of pre-malignant and malignant cutanous lesions present in the same patients, 48 h after i.v. injection of HpD. Data obtained indicate that actinic keratosis and squamous celle carcinoma show a preferential accumulation if compared to normal skin. The two lesions differ for both intensity and spectral shape of HpD fluorescence. This difference is correlated with a different clinical response to HpD laser phototherapy.

Malignant giant pheochromocytoma: a case report and review of the literature

PubMed Central

Arcos, Cristina Torres; Luque, Virgilio Ruiz; Luque, José Aguilar; García, Pablo Martínez; Jiménez, Antonia Brox; Muñoz, Macarena Márquez

2009-01-01

Malignant pheochromocytoma is a rare disease and surgical resection is the only curative treatment. There are no definitive histological or cytological criteria of malignancy, as it is impossible to determine this condition in the absence of advanced locoregional disease or metastases. We report a case of a patient with a giant retroperitoneal tumour, the second largest to be published, which was diagnosed as a malignant pheochromocytoma; it was treated with surgery. The literature is reviewed to evaluate tumour features and criteria to distinguish between benign and malignant pheochromocytomas. PMID:20019963

Clinicopathological features of benign biliary strictures masquerading as biliary malignancy.

PubMed

Wakai, Toshifumi; Shirai, Yoshio; Sakata, Jun; Maruyama, Tomohiro; Ohashi, Taku; Korira, Pavel V; Ajioka, Yoichi; Hatakeyama, Katsuyoshi

2012-12-01

Discrimination between benign and malignant biliary strictures is difficult, with 5.2 to 24.5 per cent of biliary strictures proving to be benign after histological examination of the resected specimen. This study aimed to evaluate the clinicopathological features of benign biliary strictures in patients undergoing resection for presumed biliary malignancy. From January 1990 to August 2010, 5 of 153 (3.3%) patients who had undergone resection after a preoperative diagnosis of biliary malignancy had a final histological diagnosis of benign biliary stricture. The infiltration of immunoglobulin G4-positive plasma cells was evaluated by immunohistochemistry. None of the five patients had a history of trauma or earlier hepatobiliary surgery and all five underwent hemihepatectomy (combined with extrahepatic bile duct resection in three patients). Postoperative morbidity was recorded in two patients (transient cholangitis and biliary fistula), but there was no postoperative mortality. Histological re-examination identified immunoglobulin G4-related sclerosing cholangitis (n = 2) and nonspecific fibrosis/inflammation (n = 3). No preoperative clinical or radiographic features were identified that could reliably distinguish patients with benign biliary strictures from those with biliary malignancies. Although benign biliary strictures are rare, differentiating benign strictures from malignancy remains problematic. Thus, the treatment approach for biliary strictures should remain surgical resection for presumed biliary malignancy.

[Malignant mesothelioma risk factors: experience in the General Hospital of Mexico].

PubMed

Hernández-Solís, Alejandro; Garcia-Hernández, Cyntia; Reding-Bernal, Arturo; Cruz-Ortiz, Humberto; Cicero-Sabido, Raúl

2013-01-01

Malignant mesothelioma is a neoplasm of bad prognosis, it is linked with asbestos contact, but there are cases without this antecedent. To investigate the relationship of asbestos exposition and other factors with malignant mesothelioma. Retrospective analysis of histologic confirmed cases of malignant mesothelioma, neoplasic familiar history, tobacco smoking, exposure to wood smoke and to asbestos, were annotated in a paired case/control study 1: 1-3 with logistic regression model to identify risk factors for OR. 61 cases of malignant mesothelioma were confirmed by histopathologic study, 41 male and 20 female. Mean age was 56 years ± 13 years; 56 cases (91.8%) correspond to epithelial malignant mesothelioma, three sarcomatous (4.9%) one desmoplastic and one biphasic. One in eight (13.1%) had exposure to asbestos. Model of logistic regression with four variables: history of familiar cancer, tobacco smoking, wood smoke and asbestos exposition, the the last one with an OR= 3.083 and p > 0.05. No other variables found to be a risk factor for malignant mesothelioma. Exposure to asbestos is a risk factor for malignant mesothelioma, which is confirmed in this study, however it is important to extend the investigation of other possible causal factors of this disease.

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

PubMed Central

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

2014-01-01

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

Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

PubMed

Patiño, Liliana Catherine; Battu, Rajani; Ortega-Recalde, Oscar; Nallathambi, Jeyabalan; Anandula, Venkata Ramana; Renukaradhya, Umashankar; Laissue, Paul

2014-01-01

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

Genetics of Bladder Malignant Tumors in Childhood

PubMed Central

Zangari, Andrea; Zaini, Johan; Gulìa, Caterina

2016-01-01

Bladder masses are represented by either benign or malignant entities. Malignant bladder tumors are frequent causes of disease and death in western countries. However, in children they are less common. Additionally, different features are found in childhood, in which non epithelial tumors are more common than epithelial ones. Rhabdomyosarcoma is the most common pediatric bladder tumor, but many other types of lesions may be found, such as malignant rhabdoid tumor (MRT), inflammatory myofibroblastic tumor and neuroblastoma. Other rarer tumors described in literature include urothelial carcinoma and other epithelial neoplasms. Rhabdomyosarcoma is associated to a variety of genetic syndromes and many genes are involved in tumor development. PAX3-FKHR and PAX7-FKHR (P-F) fusion state has important implications in the pathogenesis and biology of RMS, and different genes alterations are involved in the pathogenesis of P-F negative and embryonal RMS, which are the subsets of tumors most frequently affecting the bladder. These genes include p53, MEF2, MYOG, Ptch1, Gli1, Gli3, Myf5, MyoD1, NF1, NRAS, KRAS, HRAS, FGFR4, PIK3CA, CTNNB1, FBXW7, IGF1R, PDGFRA, ERBB2/4, MET, BCOR. Malignant rhabdoid tumor (MRT) usually shows SMARCB1/INI1 alterations. Anaplastic lymphoma kinase (ALK) gene translocations are the most frequently associated alterations in inflammatory myofibroblastic tumor (IMT). Few genes alterations in urothelial neoplasms have been reported in the paediatric population, which are mainly related to deletion of p16/lnk4, overexpression of CK20 and overexpression of p53. Here, we reviewed available literature to identify genes associated to bladder malignancies in children and discussed their possible relationships with these tumors. PMID:27013922

Role of microRNA-7 in digestive system malignancy.

PubMed

Chen, Wan-Qun; Hu, Ling; Chen, Geng-Xin; Deng, Hai-Xia

2016-01-15

There are several malignancies of the digestive system (including gastric, pancreatic and colorectal cancers, and hepatocellular carcinoma), which are the most common types of cancer and a major cause of death worldwide. MicroRNA (miR)-7 is abundant in the pancreas, playing an important role in pancreatic development and endocrine function. Expression of miR-7 is downregulated in digestive system malignancies compared with normal tissue. Although there are contrasting results for miR-7 expression, almost all research reveals that miR-7 is a tumor suppressor, by targeting various genes in specific pathways. Moreover, miR-7 can target different genes simultaneously in different malignancies of the digestive system. By acting on many cytokines, miR-7 is also involved in many gastrointestinal inflammatory diseases as a significant carcinogenic factor. Consequently, miR-7 might be a biomarker or therapeutic target gene in digestive system malignancies.

Incidence and predictive factors for malignancies with dermatomyositis: a cohort from southern China.

PubMed

Chen, Dongying; Yuan, Shiwen; Wu, Xiangni; Li, Hao; Qiu, Qian; Zhan, Zhongping; Ye, Yujin; Lian, Fan; Liang, Liuqin; Xu, Hanshi; Yang, Xiuyan

2014-01-01

We aimed to explore the incidence of malignancy in dermatomyositis and assess the potential risk factors of occurrence of malignancy in DM from southern China. A retrospective cohort study of patients admitted in the 1st affiliated university hospital between 2003 and 2012 was performed. Demographic information, clinical symptoms, laboratory findings, medications were documented. The endpoint of the study was defined as occurrence of malignancy or death. For this approximately 10-year retrospective study, 60 out of 246 dermatomyositis patients developed malignancies with the overall incidence of 24.4%. Nasopharyngeal carcinoma (NPC) and ovarian carcinoma were the most common malignant disease, accounting for 35% (21/60) and 15% (9/60) of malignancies, respectively. Lung and colon were followed as the third most common carcinoma (5 out of 60, 8.3%). Among these 60 patients with malignancies, 39 (65.0%, 39/60) cases occurred within 1 year after DM diagnosis. Subsequently, malignancies were detected in 13 (21.7%, 13/60) patients during the second year and 8 (13.3%, 8/60) during the third year. One patient developed cancer at the 35th month after DM as the latest. The logistic regression multivariate analysis indicated that male gender [odds ratio (OR) = 3.76, 95% confidence interval (CI ) 1.86~7.61, p<0.01], dysphagia (OR= 2.21, 95%CI 1.10~4.48, p=0.03) and elevated erythrocyte sedimentation rate (ESR) (OR= 2.37, 95% CI 1.18~4.75, p=0.02) were risk factors for the occurrence of malignancies, while interstitial lung disease (ILD) acted as a protective factor (OR=0.13, 95%CI 0.06~0.28, p<0.01). It was necessary to carry out routine malignancy screening for Chinese DM patients due to its high incidence. Nasopharyngeal carcinoma and ovarian cancer were the most common malignant disease. The risk of malignancy was highest in the first year after DM diagnosis and reduced thereafter. Extensive work-ups for malignancy screening should be carried out at the first year. Male

Lung nodule malignancy prediction using multi-task convolutional neural network

NASA Astrophysics Data System (ADS)

Li, Xiuli; Kao, Yueying; Shen, Wei; Li, Xiang; Xie, Guotong

2017-03-01

In this paper, we investigated the problem of diagnostic lung nodule malignancy prediction using thoracic Computed Tomography (CT) screening. Unlike most existing studies classify the nodules into two types benign and malignancy, we interpreted the nodule malignancy prediction as a regression problem to predict continuous malignancy level. We proposed a joint multi-task learning algorithm using Convolutional Neural Network (CNN) to capture nodule heterogeneity by extracting discriminative features from alternatingly stacked layers. We trained a CNN regression model to predict the nodule malignancy, and designed a multi-task learning mechanism to simultaneously share knowledge among 9 different nodule characteristics (Subtlety, Calcification, Sphericity, Margin, Lobulation, Spiculation, Texture, Diameter and Malignancy), and improved the final prediction result. Each CNN would generate characteristic-specific feature representations, and then we applied multi-task learning on the features to predict the corresponding likelihood for that characteristic. We evaluated the proposed method on 2620 nodules CT scans from LIDC-IDRI dataset with the 5-fold cross validation strategy. The multitask CNN regression result for regression RMSE and mapped classification ACC were 0.830 and 83.03%, while the results for single task regression RMSE 0.894 and mapped classification ACC 74.9%. Experiments show that the proposed method could predict the lung nodule malignancy likelihood effectively and outperforms the state-of-the-art methods. The learning framework could easily be applied in other anomaly likelihood prediction problem, such as skin cancer and breast cancer. It demonstrated the possibility of our method facilitating the radiologists for nodule staging assessment and individual therapeutic planning.

B-Cell Hematologic Malignancy Vaccination Registry

ClinicalTrials.gov

2017-12-29

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

Toxicological characterization of ZnO nanoparticles in malignant and non-malignant cells.

PubMed

Moratin, Helena; Scherzad, Agmal; Gehrke, Thomas; Ickrath, Pascal; Radeloff, Katrin; Kleinsasser, Norbert; Hackenberg, Stephan

2018-04-01

The increasing usage of zinc oxide nanoparticles (ZnO-NPs) in industrial applications as well as in consumer products raises concern regarding their potential adverse effects to a greater extend. Numerous studies have demonstrated toxic properties of NPs, however there is still a lack of knowledge concerning the underlying mechanisms. This study was designed to systematically investigate cytotoxicity, apoptosis, cell cycle alterations, and genotoxicity induced by ZnO-NP. Moreover, it was an aim of the investigations to specify the diverse effects of nanoparticle exposure in malignant in comparison with non-malignant cells. Therefore, human head and neck squamous cell carcinoma-derived FaDu cells were incubated with 4-20 µg/ml of ZnO-NPs for 1-48 hr and tested for cell viability, cell cycle alterations, apoptosis and caspase-3 gene expression as a sensitive marker of molecular apoptotic processes with regard to time- and dose-dependent effects. Human mesenchymal bone marrow stem cells were used as non-malignant representatives to examine oxidative stress-related genotoxicity. Results showed a significant reduction in cell viability as well as dose- and time-dependent increase of apoptotic cells following nanoparticle treatment. Likewise, caspase-3 gene expression enhanced already before first apoptotic cells were detectable. It could be observed that doses that were cytotoxic in tumor cells did not reduce viability in stem cells. However, the same concentrations already induced significant DNA damage. The findings of the study suggest to keep a more critical eye on the use of nanoparticles as anti-cancer agents. Yet, additional in vivo studies are needed to assess safety concerns for consumers and patients. Environ. Mol. Mutagen. 59:247-259, 2018. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells

ClinicalTrials.gov

2016-06-21

Sickle Cell Disease; Thalassemia; Anemia; Granuloma; Wiskott-Aldrich Syndrome; Chediak Higashi Syndrome; Osteopetrosis; Neutropenia; Thrombocytopenia; Hurler Disease; Niemann-Pick Disease; Fucosidosis

Combining recessions (nystagmus and strabismus) with tenotomy improved visual function and decreased oscillopsia and diplopia in acquired downbeat nystagmus and in horizontal infantile nystagmus syndrome.

PubMed

Wang, Zhong I; Dell'Osso, Louis F; Tomsak, Robert L; Jacobs, Jonathan B

2007-04-01

To investigate the effects of combined tenotomy and recession procedures on both acquired downbeat nystagmus and horizontal infantile nystagmus. Patient 1 had downbeat nystagmus with a chin-down (upgaze) position, oscillopsia, strabismus, and diplopia. Asymmetric superior rectus recessions and inferior rectus tenotomies reduced right hypertropia and rotated both eyes downward. Patient 2 had horizontal infantile nystagmus, a 20 degrees left-eye exotropia, and alternating (abducting-eye) fixation. Lateral rectus recessions and medial rectus tenotomies were performed. Horizontal and vertical eye movements were recorded pre- and postsurgically using high-speed digital video. The eXpanded Nystagmus Acuity Function (NAFX) and nystagmus amplitudes and frequencies were measured. Patient 1: The NAFX peak moved from 10 degrees up to primary position where NAFX values improved 17% and visual acuity increased 25%. Vertical NAFX increased across the -10 degrees to +5 degrees vertical range. Primary-position right hypertropia decreased approximately 50%; foveation time per cycle increased 102%; vertical amplitude, oscillopsia, and diplopia were reduced, and frequency was unchanged. Patient 2: Two lateral, narrow high-NAFX regions (due to alternating fixation) became one broad region with a 43% increase in primary position (acuity increased approximately 92.3%). Diplopia amplitude decreased; convergence and gaze holding were improved. Primary-position right exotropia was reduced; foveation time per cycle increased 257%; horizontal-component amplitude decreased 45.7%, and frequency remained unchanged. Combining tenotomy with nystagmus or strabismus recession procedures increased NAFX and visual acuities and reduced diplopia and oscillopsia in downbeat nystagmus and infantile nystagmus.

Reading strategies in infantile nystagmus syndrome.

PubMed

Thomas, Mervyn G; Gottlob, Irene; McLean, Rebecca J; Maconachie, Gail; Kumar, Anil; Proudlock, Frank A

2011-10-17

The adaptive strategies adopted by individuals with infantile nystagmus syndrome (INS) during reading are not clearly understood. Eye movement recordings were used to identify ocular motor strategies used by patients with INS during reading. Eye movements were recorded at 500 Hz in 25 volunteers with INS and 7 controls when reading paragraphs of text centered at horizontal gaze angles of -20°, -10°, 0°, 10°, and 20°. At each location, reading speeds were measured, along with logMAR visual acuity and nystagmus during gaze-holding. Adaptive strategies were identified from slow and quick-phase patterns in the nystagmus waveform. Median reading speeds were 204.3 words per minute in individuals with INS and 273.6 words per minute in controls. Adaptive strategies included (1) suppression of corrective quick phases allowing involuntary slow phases to achieve the desired goal, (2) voluntarily changing the character of the involuntary slow phases using quick phases, and (3) correction of involuntary slow phases using quick phases. Several individuals with INS read more rapidly than healthy control volunteers. These findings demonstrate that volunteers with INS learn to manipulate their nystagmus using a range of strategies to acquire visual information from the text. These strategies include taking advantage of the stereotypical and periodic nature of involuntary eye movements to allow the involuntary eye movements to achieve the desired goal. The versatility of these adaptations yields reading speeds in those with nystagmus that are often much better than might be expected, given the degree of foveal and ocular motor deficits.

Malignant hypertension-associated thrombotic microangiopathy following cocaine use.

PubMed

Lamia, Rais; El Ati, Zohra; Ben Fatma, Lilia; Zouaghi, Karim; Smaoui, Wided; Rania, Khedher; Krid, Madiha; Ben Hmida, Fathi; Béji, Soumaya; Ben Moussa, Fatma

2016-01-01

Cocaine is one of the most commonly used illicit drugs with distribution and consumption throughout the world. Acute renal failure associated with rhabdomyolysis, direct vasoconstriction and hemodynamic alteration is well described in patients with cocaine intoxication. Cocaine use is associated with high blood pressure and may rarely induce malignant hypertension associated with thrombotic microangiopathy. We report the case of a patient who developed malignant hypertension associated with thrombotic microangiopathy after chronic consumption of cocaine. A kidney biopsy revealed thrombotic microangiopathy with fibrinoid necrosis of arterioles and glomerular tufts. He required dialysis sessions. Cocaine-mediated endothelial injury and platelet activation may play important pathogenetic roles in cocaine abusers who develop malignant hypertension associated with thrombotic microangiopathy. Clinicians need to be aware of this rare feature of cocaine intoxication.

[Malignant mesothelioma of the vulva. About one case].

PubMed

Bahri, I; Boudawara, T; Zitoun, I; Daoud, J; Rekik, S; Jlidi, R

2003-09-01

Most malignant mesotheliomas are pleural; they rarely occur within the peritoneum and their location in the vulva is exceptional. A case of a malignant mesothelioma of the vulva is reported in a 47-year-old woman. The patient was operated for a tumour of the vulva. The preoperative diagnosis was that of a cyst of the Bartholin's gland or a fibroma. The microscopic and immunohistochemical exam confirmed the diagnosis of a biphasic malignant mesothelioma of the vulva. The computed tomography scan of the chest and the abdomen was normal. A local recurrence of the tumour occurred in spite of the postoperative radiotherapy. Our objective about this particular case is to discuss the clinical and pathologic aspects and the diagnostic problems of this exceptional tumour of the vulva.

[Assessment of stress in childhood: Children's Daily Stress Inventory (Inventario Infantil de Estresores Cotidiano, IIEC)].

PubMed

Trianes Torres, María Victoria; Blanca Mena, María José; Fernández Baena, Francisco J; Escobar Espejo, Milagros; Maldonado Montero, Enrique F; Muñoz Sánchez, Angela María

2009-11-01

The present study introduces the Children's Daily Stress Inventory (Inventario Infantil de Estresores Cotidianos, IIEC) as a measure that assesses daily stress in primary school children. The inventory was applied to a sample of 1094 primary school students. The final version includes 25 dichotomic items covering the areas of health, school/peers, and family. The score is obtained by adding the total of positive answers. Analyses of items, reliability and several external pieces of evidence of validity based on relations with other variables are presented. The results show adequate psychometric properties for the assessment of daily stress in children.

Actinomyces israelii May Produce Vulvar Lesions Suspicious for Malignancy

PubMed Central

McElroy, Jennifer Y.; Gorens, Marsha E.; Jackson, Lisa N.; Stigger, Danielle; Becker, Teresa; Sheiner, Eyal

2006-01-01

Background. We present a case of Actinomyces israelii causing vulvar mass suspicious for malignancy in a postmenopausal woman. Case. A 60 year-old woman presented due to a firm, nonmobile, 10 cm vulvar mass, which had been rapidly enlarging for 5 months. The mass was painful, with localized pruritus and sinus tracts oozing of serosanguinous fluid. Biopsy and cultures revealed a ruptured epidermal inclusion cyst containing granulation tissue and Actinomyces israelii. Conclusion. Actinomyces israelii may produce vulvar lesions that are suspicious for malignancy. Thus, biopsies and cultures are both mandatory while evaluating vulvar masses suspicious for malignancy. PMID:17093351

Ber-H2 (CD30) immunohistochemical staining in malignant melanoma.

PubMed

Polski, J M; Janney, C G

1999-09-01

Malignant melanoma can be included in the differential diagnosis of Hodgkin's disease, anaplastic large cell lymphoma, or embryonal carcinoma These malignancies express CD30, a marker of diagnostic value. A retrospective immunohistochemical study was undertaken to determine the frequency of immunoreactivity of Ber-H2 (anti-CD30 monoclonal antibody) in malignant melanoma Archival paraffin-embedded tissue from 24 primary and metastatic lesions was used. No Ber-H2 labeling was observed in the majority of the studied cases. Variable weak cytoplasmic staining was present in only one case. The findings are compared with the previous reports claiming frequent CD30 expression in malignant melanoma. We discuss issues pertaining to the interpretation of the Ber-H2 IHC staining in formalin-fixed, paraffin-embedded tissue.

Predictors of Malignancy in Patients with Cytologically Suspicious Thyroid Nodules

PubMed Central

Espiritu, Rachel P.; Bahn, Rebecca S.; Henry, Michael R.; Gharib, Hossein; Caraballo, Pedro J.; Morris, John C.

2011-01-01

Background Fine needle aspiration (FNA), although very reliable for cytologically benign and malignant thyroid nodules, has much lower predictive value in the case of suspicious or indeterminate nodules. We aimed to identify clinical predictors of malignancy in the subset of patients with suspicious FNA cytology. Methods We reviewed the electronic medical records of 462 patients who had FNA of thyroid nodules at our institution with a suspicious cytological diagnosis, and underwent surgery at Mayo Clinic between January 2004 and September 2008. Demographic data including age, gender, history of exposure to radiation and use of thyroid hormone was collected. The presence of single versus multiple nodules by ultrasonography, nodule size, and serum thyroid-stimulating harmone (TSH) level before thyroid surgery were recorded. Analysis of the latter was limited to patients not taking thyroid hormone or antithyroid drugs at the time of FNA. Results Of the 462 patients, 327 had lesions suspicious for follicular neoplasm (S-FN) or Hürthle cell neoplasm (S-HCN), 125 had cytology suspicious for papillary carcinoma (S-PC) and 10 had a variety of other suspicious lesions (medullary cancer, lymphoma and atypical). Malignancy rate for suspicious neoplastic lesions (FN+HCN) was ∼15%, whereas malignancy rate for lesions S-PC was 77%. Neither age, serum TSH level, or history of radiation exposure were associated with increased malignancy risk. The presence of multiple nodules (41.1% vs. 26.4%, p=0.0014) or smaller nodule size (2.6±1.8 cm vs. 2.9±1.6 cm, p=0.008) was associated with higher malignancy risk. In patients with cytology suspicious for neoplasm (FN, HCN) malignancy risk was higher in those receiving thyroid hormone therapy than in nonthyroid hormone users (37.7% vs. 16.5%, p=0.0004; odds ratio: 3.1), although serum TSH values did not differ significantly between thyroid hormone users and nonusers. Conclusion In patients with cytologically suspicious thyroid

Nationwide population-based study reveals increased malignancy risk in taiwanese liver transplant recipients.

PubMed

Tsai, Yung Fong; Chen, Hsiu Pin; Liu, Fu Chao; Liu, Shih Hao; Chen, Chun Yu; Cheng, Chih Wen; Lin, Jr-Rung

2016-12-13

Post-transplant malignancy is a major cause of late mortality for liver transplant recipients (LTRs). This nationwide population-based cohort study investigated the cancer type, incidence, and risk factors associated with post-transplant malignancies in 2938 Taiwanese LTRs who underwent transplantation between 1998 and 2012. Data from the National Health Insurance Research Database were extracted on the basis of the International Classification of Disease, Ninth Revision, Clinical Modification codes. Among these patients, 284 post-transplant malignancies were diagnosed. These included 99 de novo malignancies among 98 patients, yielding a standardized incidence ratio of 2.17 (95% CI, 1.76 to 2.64) compared to the general population. The most common malignancies were infection related liver cancer (19.39%), oropharyngeal cancer (19.39%), non-Hodgkin's lymphoma (9.18%), and esophageal cancer (5.10%), as well as non-infection-related prostate cancer (6.12%). Patients with recurrent malignancies had the highest mortality. Furthermore, 186 recurrent malignancies relapsed, and the commonly affected organs were the liver (83.33%), lung (4.84%), bone and bone marrow (4.30%), and intrahepatic bile ducts (2.69%). Old age, the male sex, liver cirrhosis, hepatitis B, peptic ulcer, diabetes mellitus, and pre-existing cancer were all risk factors associated with post-transplant malignancies. Recipients with biliary atresia or urea cycle metabolism disorders were protected from post-transplant malignancies. Our data revealed a significantly increased risk of malignancies in Taiwanese LTRs and suggest implementation of a careful malignancy-surveillance program and immunosuppression-minimizing strategy for high-risk patients.

Genetics Home Reference: malignant hyperthermia

MedlinePlus

... Genetic and Rare Diseases Information Center (2 links) King Denborough syndrome Malignant hyperthermia Educational Resources (4 links) ... 19 [updated 2013 Jan 31]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean ...

Drugs Approved for Malignant Mesothelioma

Cancer.gov

This page lists cancer drugs approved by the Food and Drug Administration (FDA) for malignant mesothelioma. The list includes generic names and brand names. The drug names link to NCI's Cancer Drug Information summaries.

Boron Neutron Capture Therapy for Malignant Brain Tumors

PubMed Central

MIYATAKE, Shin-Ichi; KAWABATA, Shinji; HIRAMATSU, Ryo; KUROIWA, Toshihiko; SUZUKI, Minoru; KONDO, Natsuko; ONO, Koji

2016-01-01

Boron neutron capture therapy (BNCT) is a biochemically targeted radiotherapy based on the nuclear capture and fission reactions that occur when non-radioactive boron-10, which is a constituent of natural elemental boron, is irradiated with low energy thermal neutrons to yield high linear energy transfer alpha particles and recoiling lithium-7 nuclei. Therefore, BNCT enables the application of a high dose of particle radiation selectively to tumor cells in which boron-10 compound has been accumulated. We applied BNCT using nuclear reactors for 167 cases of malignant brain tumors, including recurrent malignant gliomas, newly diagnosed malignant gliomas, and recurrent high-grade meningiomas from January 2002 to May 2014. Here, we review the principle and history of BNCT. In addition, we introduce fluoride-18-labeled boronophenylalanine positron emission tomography and the clinical results of BNCT for the above-mentioned malignant brain tumors. Finally, we discuss the recent development of accelerators producing epithermal neutron beams. This development could provide an alternative to the current use of specially modified nuclear reactors as a neutron source, and could allow BNCT to be performed in a hospital setting. PMID:27250576

Boron Neutron Capture Therapy for Malignant Brain Tumors.

PubMed

Miyatake, Shin-Ichi; Kawabata, Shinji; Hiramatsu, Ryo; Kuroiwa, Toshihiko; Suzuki, Minoru; Kondo, Natsuko; Ono, Koji

2016-07-15

Boron neutron capture therapy (BNCT) is a biochemically targeted radiotherapy based on the nuclear capture and fission reactions that occur when non-radioactive boron-10, which is a constituent of natural elemental boron, is irradiated with low energy thermal neutrons to yield high linear energy transfer alpha particles and recoiling lithium-7 nuclei. Therefore, BNCT enables the application of a high dose of particle radiation selectively to tumor cells in which boron-10 compound has been accumulated. We applied BNCT using nuclear reactors for 167 cases of malignant brain tumors, including recurrent malignant gliomas, newly diagnosed malignant gliomas, and recurrent high-grade meningiomas from January 2002 to May 2014. Here, we review the principle and history of BNCT. In addition, we introduce fluoride-18-labeled boronophenylalanine positron emission tomography and the clinical results of BNCT for the above-mentioned malignant brain tumors. Finally, we discuss the recent development of accelerators producing epithermal neutron beams. This development could provide an alternative to the current use of specially modified nuclear reactors as a neutron source, and could allow BNCT to be performed in a hospital setting.

Malignant perivascular epithelioid cell tumor of the retroperitoneum.

PubMed

Wu, Ji-Hua; Zhou, Jin-Lian; Cui, Yan; Jing, Qing-Ping; Shang, Le; Zhang, Jian-Zhong

2013-01-01

Perivascular epithelioid cell tumors (PEComas) are a rare type of mesenchymal neoplasms characterized by a proliferation of perivascular cells with an epithelioid phenotype and expression of myo-melanocytic markers. The majority of PEComas seem to be benign and usually their prognosis is good. Malignant cases are extremely rare, exhibiting a malignant course with local recurrences and distant metastases. We herein report a case of a malignant PEComa arising in the retroperitoneum. The patient was a 55-year-old woman experiencing abdominal discomfort for approximately one month. Ultrasound and computer tomography (CT) scans of the abdomen revealed a solid mass arising from the retroperitoneum. Microscopically, the tumor was composed of epithelioid cells mixed with spindled cells. The nucleus had significant atypia, and the mitoses were obvious. The focal intravascular tumor embolus was visible. Immunohistochemically, the epithelioid tumor cells were positive for HMB45 and Melan-A, and the spindled tumor celLs were positive for SMA and desmin. Seven months after a surgical resection, an ultrasound revealed liver metastases. In conclusion, the malignant PEComas of the retroperitoneum is a very rare neoplasm with unique morphological and immunohistochemical characteristics. It should be differentiated from other epithelioid cell tumors of the retroperitoneum.

Transport activity and presence of ClC-7/Ostm1 complex account for different cellular functions.

PubMed

Weinert, Stefanie; Jabs, Sabrina; Hohensee, Svea; Chan, Wing Lee; Kornak, Uwe; Jentsch, Thomas J

2014-07-01

Loss of the lysosomal ClC-7/Ostm1 2Cl(-)/H(+) exchanger causes lysosomal storage disease and osteopetrosis in humans and additionally changes fur colour in mice. Its conversion into a Cl(-) conductance in Clcn7(unc/unc) mice entails similarly severe lysosomal storage, but less severe osteopetrosis and no change in fur colour. To elucidate the basis for these phenotypical differences, we generated Clcn7(td/td) mice expressing an ion transport-deficient mutant. Their osteopetrosis was as severe as in Clcn7(-/-) mice, suggesting that the electric shunt provided by ClC-7(unc) can partially rescue osteoclast function. The normal coat colour of Clcn7(td/td) mice and their less severe neurodegeneration suggested that the ClC-7 protein, even when lacking measurable ion transport activity, is sufficient for hair pigmentation and that the conductance of ClC-7(unc) is harmful for neurons. Our in vivo structure-function analysis of ClC-7 reveals that both protein-protein interactions and ion transport must be considered in the pathogenesis of ClC-7-related diseases. © 2014 The Authors.

Treatment Option Overview (Osteosarcoma and Malignant Fibrous Histiocytoma of Bone)

MedlinePlus

... Treatment Research Osteosarcoma and Malignant Fibrous Histiocytoma of Bone Treatment (PDQ®)–Patient Version General Information About Osteosarcoma and Malignant Fibrous Histiocytoma of Bone Go to Health Professional Version Key Points Osteosarcoma ...

[Self-expandable metallic biliary endoprosthesis in malignant obstructive jaundice].

PubMed

Güitrón-Cantú, Alfredo; Adalid-Martínez, Raúl; Gutiérrez-Bermúdez, José A

2005-01-01

Implantation of metallic stents for malignant biliary strictures has been recognized to be effective alternatives. To show our experience in metallic stents for palliation of malignant biliary strictures. Seventy three patients (38 males, 35 females, mean age 64.26) with malignant biliary strictures have been treated by implantation of metallic stents. Causes of obstruction were pancreatic carcinoma (23/73, 31.5%), bile duct carcinoma (31/73, 42.5%), carcinoma of ampula of Vater (11/73, 15%) and Klatskin tumor (3/73, 4.1%). Endoscopic procedure was successful in all cases. Neither procedure-related morbidity nor mortality was observed. Life surviving curve was 9 months and showed significant difference (p < 0.0071) in patients with carcinoma of ampula of Vater. Self-expanding metal endoprosthesis is a recognized method of palliation in malignant biliary obstruction. It efficiently relieves jaundice and generally improves comfort and nutritional status during the patient's remaining lifetime. The metallic stents are advantageous in patients surviving 6 months or less.

Chemotherapy curable malignancies and cancer stem cells: a biological review and hypothesis.

PubMed

Savage, Philip

2016-11-21

Cytotoxic chemotherapy brings routine cures to only a small select group of metastatic malignancies comprising gestational trophoblast tumours, germ cell tumours, acute leukemia, Hodgkin's disease, high grade lymphomas and some of the rare childhood malignancies. We have previously postulated that the extreme sensitivity to chemotherapy for these malignancies is linked to the on-going high levels of apoptotic sensitivity that is naturally linked with the unique genetic events of nuclear fusion, meiosis, VDJ recombination, somatic hypermutation, and gastrulation that have occurred within the cells of origin of these malignancies. In this review we will examine the cancer stem cell/cancer cell relationship of each of the chemotherapy curable malignancies and how this relationship impacts on the resultant biology and pro-apoptotic sensitivity of the varying cancer cell types. In contrast to the common epithelial cancers, in each of the chemotherapy curable malignancies there are no conventional hierarchical cancer stem cells. However cells with cancer stem like qualities can arise stochastically from within the general tumour cell population. These stochastic stem cells acquire a degree of resistance to DNA damaging agents but also retain much of the key characteristics of the cancer cells from which they develop. We would argue that the balance between the acquired resistance of the stochastic cancer stem cell and the inherent chemotherapy sensitivity of parent tumour cell determines the overall chemotherapy curability of each diagnosis. The cancer stem cells in the chemotherapy curable malignancies appear to have two key biological differences from those of the more common chemotherapy incurable malignancies. The first difference is that the conventional hierarchical pattern of cancer stem cells is absent in each of the chemotherapy curable malignancies. The other key difference, we suggest, is that the stochastic stem cells in the chemotherapy curable malignancies

Infantile hypophosphatasia combined with vitamin B6-responsive seizures and reticular formation lesions on magnetic resonance imaging: A case report.

PubMed

Fukazawa, Mitsuharu; Tezuka, Junichiro; Sasazuki, Momoko; Masumoto, Natsuko; Baba, Haruhisa; Doi, Takehiko; Tsutsumi, Yasushi; Mizuno, Yuji; Mihara, Futoshi; Nakayama, Hideki

2018-02-01

Hypophosphatasia (HPP) is a rare genetic disorder characterized by rachitic bone manifestations and a low serum alkaline phosphatase (ALP) level. It is caused by mutations in the tissue non-specific alkaline phosphatase (TNSALP) gene, which encodes the tissue non-specific isozyme of ALP. HPP patients exhibit various presentations depending on their age at onset, such as infantile HPP combined with vitamin B6-responsive seizures. A newborn with infantile HPP presented with tonic convulsions from day 5 after birth and received intravenous vitamin B6 (10mg/kg/day pyridoxal phosphate). Eleven days later, frequent apneic episodes occurred, and head magnetic resonance imaging (MRI) showed bilateral reticular formation lesions in the brain stem, including the medulla oblongata. After the pyridoxal phosphate dose was increased (to 40mg/kg/day), the patient's seizures and apnea resolved, and her MRI findings also improved. Genetic testing revealed that she was homozygous for the 1559delT mutation of TNSALP. High-dose pyridoxal phosphate is a useful treatment for HPP-induced seizures and might improve reticular formation lesions. Copyright © 2017 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

[Fertility preservation in patients with hematological malignancies].

PubMed

Kanda, Yoshinobu

2015-03-01

Antineoplastic chemotherapy and irradiation affect gonadal function and may lead to infertility. Recovery of gonadal function is frequently observed after conventional chemotherapy in young patients with hematological malignancies, but conditioning regimens before hematopoietic stem cell transplantation result in permanent gonadal failure. Cryopreservation of sperm is effective for male patients, but it becomes difficult even after a single cycle of chemotherapy and therefore should be accomplished before starting chemotherapy. Embryo freezing after in vitro fertilization of harvested oocytes is an established method to preserve fertility in female patients. In addition, harvesting and freezing of unfertilized oocytes is also being evaluated in a clinical study. However, collection of good oocytes after chemotherapy is difficult. In addition, oocyte harvesting is an invasive procedure and may be associated with hemorrhage or infectious complications. Ovarian shielding during total body irradiation allows ovary preservation in most female patients, but this cannot be performed in patients with active malignancies. Strategies for gonadal function preservation should be planned before starting treatment for hematological malignancies.

Cutaneous changes in internal malignancy: Study from a tertiary care center.

PubMed

Hassan, Iffat; Zeerak, Sumaya; Kuchay, Sanaullah; Bashir, Safia; Bhat, Yasmeen J; Mubashir, Syed; Rasool, Farhan; Sheikh, Gousia; Sajad, Peerzada

2017-01-01

A wide variety of systemic diseases and internal malignancies have cutaneous manifestations. In the context of internal malignancy, many cutaneous changes are highly specific to the underlying malignancy, while other changes are nonspecific. Some changes are also due to the modalities employed in the treatment of malignancies. Two hundred and fifty patients who were diagnosed with internal malignancy and who were attending the department of radiation oncology, were evaluated at the Department of Dermatology, Sexually Transmitted Diseases and Leprosy of Government Medical College, Srinagar. The study was conducted over a period of 5 months. Relevant investigations, wherever needed, were carried out. Among the 250 cases examined, nonspecific cutaneous changes were seen in 39 (15.6%) cases, whereas specific skin lesions in the form of cutaneous metastases were seen in two (0.8%) patients. Nail changes and hair changes were also seen in some patients. As this was a cross-sectional study and most of the patients were lost to follow up, we could not assess the outcome of the dermatological changes seen in the affected patients. Many dermatological changes are noticed early in the course of malignancy, reflecting a strong association of the cutaneous change with malignancy. Few manifestations occur late in the course of the disease, indicating dissemination or immunosuppression. Some changes reflect radiation-induced or chemotherapy-induced toxicity, indicating the need for treatment modifications.

Malignancy in Children with Trisomy 21

PubMed Central

Rabin, Karen R.; Whitlock, James A.

2009-01-01

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

A Hormonally Active Malignant Struma Ovarii

PubMed Central

Lara, Carolina; Salame, Latife; Padilla-Longoria, Rafael

2016-01-01

Struma ovarii is a rare monodermal variant of ovarian teratoma that contains at least 50% thyroid tissue. Less than 8% of struma ovarii cases present with clinical and biochemical evidence of thyrotoxicosis due to ectopic production of thyroid hormone and only 5% undergo malignant transformation into a papillary thyroid carcinoma. Only isolated cases of hormonally active papillary thyroid carcinoma developing within a struma ovarii have been reported in the literature. We report the case of a 36-year-old woman who presented with clinical signs and symptoms of hyperthyroidism as well as a left adnexal mass, which proved to be a thyroid hormone-producing, malignant struma ovarii. PMID:27882257

Infantile spasms with periventricular nodular heterotopia, unbalanced chromosomal translocation 3p26.2 -10p15.1 and 6q22.31 duplication.

PubMed

Jones, Kevin; Weiss, Shelly K; Minassian, Berge

2016-07-01

Patients presenting with infantile spasms, dysmorphic features, and periventricular nodular heterotopia may benefit from genetic copy number variation microarray, or whole-exome sequencing to identify candidate genes. This will allow personalized diagnosis and prognostication and the eventual understanding of single and combined gene functions in brain health and disease.

[MALIGNANT TUMORS IN OVARIAN MATURE CYSTIC TERATOMAS INTRAOPERATIVE DIAGNOSTIC BASIS].

PubMed

Khachatryan, A

2016-11-01

Extremely rare ovarian primary tumors formed in a mature cystic teratomaare described in the literature. This research work studies the frequency of malignant mature cystic teratoma, as well as their clinical and morphological features and necessity of intraoperative histological examination of all teratomas. Cases histories of 56 patients, suffering from ovarian mature cystic teratomahave been studied in MC Shengavit in the period of 2003 - 2015. Among them 4 patients with the somatic malignancies were identified. Morphological methods, which are considered to be "gold standard" of tumor investigation, were used in staining the slides with hematoxylin - eosin. According to the literature the secondary malignant transformation rarely occurs and is typical in postmenopausal women, with a frequency of 0.17-3%. According to the results of our study, malignant tumors in mature cystic teratomas were observed in 4 (7,14%) from the total number of mature cystic teratomas (n=56). There was not revealed a correlation between the duration of the complaints, age of the patients, sizes of ovarian mature teratoma and malignization degree. Thus, the greatest difficulties of clinical diagnosis of malignant tumors in the ovarian mature cystic teratomas were in the early stage of the disease, because of a variety of clinical manifestations, not pathognomonic for malignization. All mentioned symptoms may be observed in the patients with usual mature cystic teratomas. Тhis cases confirm the necessity to take tissue samples from the other ovary for intraoperative histopathological evaluation in each case of mature cystic teratomas. It is necessary to examine a large number of tumor sites, to prevent errors in the assessment of the maturity degree of teratoma.

Infantile bisexuality and the 'complete oedipal complex': Freudian views on heterosexuality and homosexuality.

PubMed

Heenen-Wolff, Susann

2011-10-01

In the psychoanalytical discussion of what is 'mature' sexuality we speak of the 'genital' stage and the 'resolution' of the oedipal complex in the form of identification with the parent of the same sex and a heterosexually-directed object choice. A close reading of Freud's texts about sexuality shows that such a normative view cannot be corroborated by his viewpoint. He suggests that infantile sexuality is bisexually orientated, the final object choice due to repression of either homosexual or heterosexual desires. As Freud puts it, genital heterosexuality occurs out of necessity for procreation. In order to enrich the present psychoanalytical discussion about homosexuality and bisexuality the author returns to Freud's theories in this context. Copyright © 2011 Institute of Psychoanalysis.

F18-FDG coincidence-PET in patients with suspected gynecological malignancy.

PubMed

Zor, E; Stokkel, M P; Ozalp, S; Vardareli, E; Yalçin, O Tarik; Ak, I

2006-07-01

To assess the role of F18-FDG imaging with a dual-head coincidence mode gamma camera (Co-PET) in identifying malignant tumors in patients with a suspicious adnexal mass depicted by conventional imaging methods. F18-FDG Co-PET was performed preoperatively in 18 women (mean age 56.38 years) with suspected malignant gynecologic tumors according to clinical and abdomino-pelvic/transvaginal ultrasound or computed tomography findings. Exploratory laparotomy was performed in all patients within the 10 days post-F18-FDG Co-PET study, and the definitive diagnosis of the adnexal masses was established by histopathological examination. Histopathological examinations of the surgically excised adnexal masses revealed eight malignant, one borderline, and nine benign neoplastic tumors. Four benign tumors had no F18-FDG uptake, while the remaining five tumors, all leiomyomas, showed mild FDG accumulation. Eight malignant tumors showed intense F18-FDG uptake. Sensitivity, specificity, PPV, and NPV of F18-FDG co-PET in differentiating benign from malign adnexal masses were 88%, 44%, 61%, and 80%, respectively. Tumor to background ratios (T/B) in benign lesions (2.04 +/- 0.27) were significantly lower than in malignant lesions (7.4 +/- 0.99). F18-FDG Co-PET is of clinical value when assessing suspicious malignant adnexal masses. False-negative F18-FDG results might arise from borderline disease. Moderate F18-FDG uptake in leiomyomas can result false-positive, but T/B ratios may be helpful in such cases.

Venous thromboembolism in malignant gliomas

PubMed Central

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

2010-01-01

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

Solitary fibrous tumour of pleura: CT differentiation of benign and malignant types.

PubMed

Gupta, A; Souza, C A; Sekhon, H S; Gomes, M M; Hare, S S; Agarwal, P P; Kanne, J P; Seely, J M

2017-09-01

To analyse and compare the computed tomography (CT) features of benign and malignant types of histopathologically proven cases of solitary fibrous tumours of pleura (SFTP). Retrospective analysis of preoperative CT images of 28 cases of histopathologically proven and classified SFTP from three participating institutions was performed. Patient demographics and lesion characteristics including size, borders, presence of a pedicle, extension into the fissure, attenuation, enhancement, pleural effusion, and calcifications were recorded and correlated with the final histopathological diagnosis. Type and results of preoperative biopsy were also recorded. Follow-up imaging and the clinical charts were reviewed to identify recurrence. Out of 28 cases (15 women and 13 men), 18 were proven to be benign and 10 were malignant. The mean age of patients was 58.1±15.9 and 66.5±11.8 years (p=0.1564) for benign and malignant tumours, respectively. The median (interquartile range) diameter was 6.05 (3.2-10.9) cm for benign and 15.7 (7.1-17.5) cm for malignant type tumours (p=0.0291). Tumours had lobulate borders in 28% (5/18) of benign cases and in 80% (8/10) of malignant cases (p=0.0163). Extension into adjacent fissure was seen in 22% (4/18) of benign lesions and 40% (4/10) of malignant lesions (p=0.40). A pedicle was present in 17% (3/18) of benign and 10% (1/10) of malignant lesions (p=1). Heterogeneous attenuation was present in 61% (11/18) of benign and 90% (9/10) of malignant lesions (p=0.19). Calcification was present in 17% (3/18) of benign tumours and in 70% (7/10) of malignant tumours (p=0.0113). Pleural effusion was present in 6% (1/18) of benign and 40% (4/10) of malignant lesions (p=0.04). Only 1/13 preoperative fine-needle aspirates yielded diagnosis of SFTP. Preoperative diagnosis of SFTP was made in all cases (11/11) with core biopsies. At follow-up (1-10 years, mean 3 years), local recurrence occurred in 3/6 (50%) patients with malignant SFTP and in none of the

[Breast metastases from extramammary malignancies in men].

PubMed

Murakami, T; Hideura, S; Shimizu, R; Shimizu, T; Yano, K; Ishihara, T

1985-12-01

Metastases to the breast from extramammary carcinomas are rare. Carcinoma of the male breast is generally regarded as primary in origin and uncommon, accounting for less than 0.42% of all malignancies in men. Tow men who presented with breast malignancies in the course of their prostatic carcinoma are described. One was metastasis to the breast from prostatic cancer, the other from pancreatic cancer. The prostatic origin of these carcinomas, was confirmed by histological findings and immunocytochemical demonstration of prostatic acid phosphatase with the avidin-biotin-complex method.

Trends in single women with malignancy of the uterine cervix in United States.

PubMed

Machida, Hiroko; Blake, Erin A; Eckhardt, Sarah E; Takiuchi, Tsuyoshi; Grubbs, Brendan H; Mikami, Mikio; Roman, Lynda D; Matsuo, Koji

2018-03-01

To examine trends and characteristics of single women with malignancy of the uterine cervix. This is a retrospective observational study examining the United States population-based tumor registry (the Surveillance, Epidemiology, and End Results program). Time-specific trends in single marital status were examined in 3,294,208 women among 12 common female malignancies including 87,151 women with uterine cervical malignancy between 1973 and 2013. While the proportion of single women in the majority of malignancies increased during the study time, the proportion of single women with cervical malignancy significantly increased more than in other malignancies (29.3% in 2013 from 6.3% in 1973). There was a surge in the proportion of single women with cervical malignancy starting in the early 1990s, exhibiting the largest annual percentage rate change (APC) among all examined malignancies (1.8%; 95% confidence interval [CI]=1.6, 2.0; p<0.001). There was a significant decrease in the proportion of women aged <40 years with cervical malignancy between 1989 and 2013 (APC, -1.2%; 95% CI=-1.4, -1.0; p<0.001). However, when stratified by age, the proportion of single women aged ≥40 years increased significantly during the time (APC, 2.7%; 95% CI=2.3, 3.2; p<0.001) but did not in those who were <40 years (APC, 0.1%; 95% CI=-0.7, 0.6; p=0.850). The proportion of single women with malignancy of the uterine cervix has significantly increased in the past 4 decades. This increase was most dramatic in single women aged ≥40 years. Improving screening strategies in single women aged ≥40 years may help reduce the incidence of this malignancy. Copyright © 2018. Asian Society of Gynecologic Oncology, Korean Society of Gynecologic Oncology

Bronchoalveolar lavage in malignancy.

PubMed

Poletti, Venerino; Poletti, Giovanni; Murer, Bruno; Saragoni, Luca; Chilosi, Marco

2007-10-01

Bronchoalveolar lavage is a useful diagnostic tool in diffuse or disseminated lung malignancies that do not involve the bronchial structures visible by endoscopy. The neoplastic histotype and the intraparenchymal neoplastic growth pattern are good predictors for diagnostic yield; adenocarcinoma, and tumors with lymphangitic or lepidic growth patterns are more easily diagnosed by bronchoalveolar lavage; in these cases the diagnostic yield reported is higher than 80%. In hematologic malignancies the diagnostic yield is quite good in secondary diffuse indolent B cell lymphomas and in primary B cell lymphomas of mucosa-associated lymphoid tissue (MALT) type but low in Hodgkin disease. Morphological analysis may be implemented by immunocytochemical or molecular tests to identify the cell lineage and the presence of monoclonality. Disorders in which bronchioloalveolar cell hyperplasia/dysplasia is a significant morphological component may have cytological features in bronchoalveolar lavage fluid that mimic lung neoplasms: acute respiratory distress syndrome (ARDS), acute interstitial pneumonitis (AIP), and acute exacerbation of idiopathic pulmonary fibrosis are the most important clinical entities in this group.

DNA Cytometry and Nuclear Morphometry in Ovarian Benign, Borderline and Malignant Tumors.

PubMed

El Din, Amina A Gamal; Badawi, Manal A; Aal, Shereen E Abdel; Ibrahim, Nihad A; Morsy, Fatma A; Shaffie, Nermeen M

2015-12-15

Ovarian carcinoma is a leading cause of death in gynecological malignancy. Ovarian surface epithelial serous and mucinous tumours are classified as benign, borderline, and malignant. The identification of borderline tumours most likely to act aggressively remains an important clinical issue. This work aimed to study DNA ploidy and nuclear area in ovarian serous and mucinous; benign, borderline and malignant tumours. This study included forty ovarian (23 serous and 17 mucinous) tumours. Paraffin blocks were sectioned; stained with haematoxylin and eosin for histopathologic and morphometric studies and with blue feulgen for DNA analysis. All four serous and six out of nine mucinous benign tumours were diploid. All eight serous and five mucinous malignant tumours were aneuploid. Nine of eleven (81.8%) serous and all three mucinous borderline tumours were aneuploid. There were highly significant differences in mean aneuploid cells percentage between serous benign (1.5%), borderline (45.6%) and malignant (74.5%) (p = 0.0001) and between mucinous benign (13.2%) and both borderline (63.7%) and malignant (68.4%) groups (p = 0.0001). There were significant differences in nuclear area between serous benign (26.191%), borderline (45.619%) and malignant (67.634 %) and a significant positive correlation between mean percentage aneuploid value and mean nuclear area in all serous and mucinous groups. We suggest that DNA ploidy and nuclear area combined, may be adjuncts to histopathology; in ovarian serous and mucinous benign, borderline and malignant neoplasms; identifying the aggressive borderline tumours.

[Therapeutic intervention in infantile autism and generalized developmental disorders: self-injury and self-stimulation].

PubMed

Rodríguez-Abellán, J

1999-02-01

In this article we present a review of the aetiology and treatment of self-injury and self-stimulation in infantile autism and in generalized development disorders. We summarize 20 years of study and investigation in the treatment of these serious behaviour disorders, in a pioneer institution in Spain: the centre for rehabilitation 'El Cau' in Castellon. We describe the most frequent behaviour disorders, with particular reference to self-injury and self-stimulatory behaviour. Models explaining the aetiology and treatment are described in a brief general review of the subject, and we consider explicative models which integrate different treatments (in family and institutional contexts) by means of family therapy, psychoeducational models and social support networks.

Information on infantile colic on the World Wide Web.

PubMed

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

2013-01-01

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. Two checklists were used to evaluate the quality indicators of 24 Web sites and the colic-specific content. 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. 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. Copyright © 2013 National Association of Pediatric Nurse Practitioners. Published by Mosby, Inc. All rights reserved.

E-learning enables parents to assess an infantile hemangioma.

PubMed

de Graaf, Marlies; Knol, Mirjam J; Totté, Joan E E; van Os-Medendorp, Harmieke; Breugem, Corstiaan C; Pasmans, Suzanne G M A

2014-05-01

Infantile hemangiomas (IH) at risk for complications need to be recognized early. We sought to determine if parents are able to assess, after e-learning, whether their child has an IH, is at risk for complications, and needs to be seen (urgently) by a specialist. This was a prospective study of 158 parents participating in an IH e-learning module. Parents were asked to assess their child's skin abnormality. A dermatologist answered the same questions (by e-consult). The 2 assessments were compared. Parents showed a 96% concordance with the dermatologist for correct diagnosis after e-learning. Concordances were 79%, 75%, and 84% (P < .001), respectively, on assessing the risk of complications, the need to be seen by a specialist, and the urgency for specialized care. Parents had a relatively high education level and were therefore not representative of the general population. Parents were able to correctly diagnose and evaluate an IH after completing an e-learning module. E-learning by parents could result in earlier presentation and treatment of high-risk IH. Copyright © 2014 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

Development of venetoclax for therapy of lymphoid malignancies.

PubMed

Zhu, Huayuan; Almasan, Alexandru

2017-01-01

B-cell lymphoma-2 (BCL-2) family dysfunction and impairment of apoptosis are common in most B-cell lymphoid malignancies. Venetoclax (Venclexta™, formerly ABT-199, GDC-0199) is a highly selective BCL-2 inhibitor, which mimics its BCL-2 homology 3-domain to induce apoptosis. It was approved for treatment of previously treated chronic lymphocytic leukemia (CLL) patients with 17p deletion early in 2016. It has also been in clinical trials for other B-cell lymphoid malignancies. Unlike the other recently approved targeted agents idelalisib and ibrutinib, so far there has been no relapse reported in some patients. Also, unlike the other targeted agents, it is effective against tumor cells that reside in the blood marrow. Despite its promising outcome in CLL, preclinical data have already uncovered mechanistic insights underlying venetoclax resistance, such as upregulation of MCL-1 or BCL-xL expression and protective signaling from the microenvironment. In this review, we describe the role of the BCL-2 family in the pathogenesis of B-cell lymphoid malignancies, the development of venetoclax, and its current clinical outcome in CLL and other B-cell malignancies. We also discuss the resistance mechanisms that develop following venetoclax therapy, potential strategies to overcome them, and how this knowledge can be translated into clinical applications.

Development of venetoclax for therapy of lymphoid malignancies

PubMed Central

Zhu, Huayuan; Almasan, Alexandru

2017-01-01

B-cell lymphoma-2 (BCL-2) family dysfunction and impairment of apoptosis are common in most B-cell lymphoid malignancies. Venetoclax (Venclexta™, formerly ABT-199, GDC-0199) is a highly selective BCL-2 inhibitor, which mimics its BCL-2 homology 3-domain to induce apoptosis. It was approved for treatment of previously treated chronic lymphocytic leukemia (CLL) patients with 17p deletion early in 2016. It has also been in clinical trials for other B-cell lymphoid malignancies. Unlike the other recently approved targeted agents idelalisib and ibrutinib, so far there has been no relapse reported in some patients. Also, unlike the other targeted agents, it is effective against tumor cells that reside in the blood marrow. Despite its promising outcome in CLL, preclinical data have already uncovered mechanistic insights underlying venetoclax resistance, such as upregulation of MCL-1 or BCL-xL expression and protective signaling from the microenvironment. In this review, we describe the role of the BCL-2 family in the pathogenesis of B-cell lymphoid malignancies, the development of venetoclax, and its current clinical outcome in CLL and other B-cell malignancies. We also discuss the resistance mechanisms that develop following venetoclax therapy, potential strategies to overcome them, and how this knowledge can be translated into clinical applications. PMID:28331288

Malignant perivascular epithelioid cell tumor of the retroperitoneum

PubMed Central

Wu, Ji-Hua; Zhou, Jin-Lian; Cui, Yan; Jing, Qing-Ping; Shang, Le; Zhang, Jian-Zhong

2013-01-01

Perivascular epithelioid cell tumors (PEComas) are a rare type of mesenchymal neoplasms characterized by a proliferation of perivascular cells with an epithelioid phenotype and expression of myo-melanocytic markers. The majority of PEComas seem to be benign and usually their prognosis is good. Malignant cases are extremely rare, exhibiting a malignant course with local recurrences and distant metastases. We herein report a case of a malignant PEComa arising in the retroperitoneum. The patient was a 55-year-old woman experiencing abdominal discomfort for approximately one month. Ultrasound and computer tomography (CT) scans of the abdomen revealed a solid mass arising from the retroperitoneum. Microscopically, the tumor was composed of epithelioid cells mixed with spindled cells. The nucleus had significant atypia, and the mitoses were obvious. The focal intravascular tumor embolus was visible. Immunohistochemically, the epithelioid tumor cells were positive for HMB45 and Melan-A, and the spindled tumor celLs were positive for SMA and desmin. Seven months after a surgical resection, an ultrasound revealed liver metastases. In conclusion, the malignant PEComas of the retroperitoneum is a very rare neoplasm with unique morphological and immunohistochemical characteristics. It should be differentiated from other epithelioid cell tumors of the retroperitoneum. PMID:24133607

Synchronous quintuple primary gastrointestinal tract malignancies: Case report

PubMed Central

Kim, Soo-Hong; Park, Byung-Soo; Kim, Hyun Sung; Kim, Jae Hun

2017-01-01

Multiple primary malignancy is defined as two or more malignancies detected in an individual person. In particular, synchronous quintuple primary malignancy is extremely rare. A 52-year-old male with anal pain and intermittent blood-tinged stool was diagnosed with malignancies in the stomach, jejunum, ascending colon, transverse colon and rectum. He underwent a subtotal gastrectomy, segmental resection of the jejunum and total protocolectomy with end ileostomy. The postoperative pathologic findings were moderate differentiated gastric adenocarcinoma (pT1bN0M0, pStageIA), combined adenocarcinoma and neuroendocrine carcinoma of the jejunum (pT3N0M0, pStageIIA), three mucinous adenocarcinoma of the ascending colon (pT3N0M0, pStageIIA), transverse colon (pT1N0M0, pStageI) and rectum (pT3N1aM0, pStageIIIB). The tumors did not lack MLH-1 and MSH-2 expression, as the markers (bat26, D5S346, bat25, D2S123) suggest MSI-H presence. Adjuvant chemoradiotherapy was started according to regimen, FOLFOX 4 for advanced rectal cancer. Six years post-operation, the patient is currently attending regular follow-ups without recurrence or metastasis. PMID:28104993

Can diffusion-weighted imaging distinguish between benign and malignant pediatric liver tumors?

PubMed

Caro-Domínguez, Pablo; Gupta, Abha A; Chavhan, Govind B

2018-01-01

There are limited data on utility of diffusion-weighted imaging (DWI) in the evaluation of pediatric liver lesions. To determine whether qualitative and quantitative DWI can be used to differentiate benign and malignant pediatric liver lesions. We retrospectively reviewed MRIs in children with focal liver lesions to qualitatively evaluate lesions noting diffusion restriction, T2 shine-through, increased diffusion, hypointensity on DWI and apparent diffusion coefficient (ADC) maps, and intermediate signal on both, and to measure ADC values. Pathology confirmation or a combination of clinical, laboratory and imaging features, and follow-up was used to determine final diagnosis. We included 112 focal hepatic lesions in 89 children (median age 11.5 years, 51 female), of which 92 lesions were benign and 20 malignant. Interobserver agreement was almost perfect for both qualitative (kappa 0.8735) and quantitative (intraclass correlation coefficient [ICC] 0.96) diffusion assessment. All malignant lesions showed diffusion restriction. Most benign lesions other than abscesses were not restricted. There was significant association of qualitative restriction with malignancy and non-restriction with benignancy (Fisher exact test P<0.0001). Mean normalized ADC values of malignant lesions (1.23x10 -3  mm 2 /s) were lower than benign lesions (1.62x10 -3  mm 2 /s; Student's t-test, P<0.015). However, there was significant overlap of ADC between benign and malignant lesions, with wide range for each diagnosis. Receiver operating characteristic (ROC) analysis revealed an area under the curve (AUC) of 0.63 for predicting malignancy using an ADC cut-off value of ≤1.20x10 -3  mm 2 /s, yielding a sensitivity of 78% and a specificity of 54% for differentiating malignant from benign lesions. Qualitative diffusion restriction in pediatric liver lesions is a good predictor of malignancy and can help to differentiate between benign and malignant lesions, in conjunction with conventional

The relationship between methylenetetrahydrofolate reductase polymorphism and hematological malignancy.

PubMed

Jiang, Ni; Zhu, Xishan; Zhang, Hongmei; Wang, Xiaoli; Zhou, Xinna; Gu, Jiezhun; Chen, Baoan; Ren, Jun

2014-01-01

Methylenetetrahydrofolate reductase (MTHFR) is the key enzyme for folate metabolism. Previous studies suggest a relationship between its single nucleotide polymorphisms (SNP) of C677T and A1298C with a variety of tumor susceptibility including hematological malignancy. SNP frequency distribution in different ethnic populations might lead to differences in disease susceptibility. There has been little research in Chinese people on the MTHFR SNP with the susceptibility of the hematological malignancy. Therefore, this study investigated the relationship between MTHFR SNPs and hematological malignancy in Jiangsu province in China. Gene microarray was used to detect MTHFR C677T and A1298C single nucleotide polymorphism loci on 157 healthy controls and 127 patients from Jiangsu province with hematological malignancies (30 with multiple myeloma, 28 with non-Hodgkin's lymphoma, 22 with acute lymphoblastic leukemia, 40 with acute myeloid leukemia, and seven with chronic myeloid leukemia). The allele frequency of 677T was 41.3% in patients and 33.1% in controls, showed significant difference (chi2 = 4.08, p = 0.043); 677TT genotype with a high susceptibility to hematological malignancy (OR 1.96, 95% CI 1.01 - 4.45, p = 0.041). In subgroup analyses, the genotypes 677TT and 1298CC were associated with significantly increased multiple myeloma risk (TT vs. CC: OR 8.92, 95% CI 1.06 - 75.24, p = 0.006; CC vs. AA: OR = 4.80, 95% CI 1.56 - 14.73, p = 0.044). No associations were found between polymorphisms and susceptibilities to acute lymphoblastic leukemia, acute myeloid leukemia, or non-Hodgkin's lymphoma. MTHFRC677T polymorphisms influence the risk of hematological malignancy among the population in Jiangsu province. Both MTHFR 677TT and MTHFR 1298CC genotypes increase susceptibility to myeloid leukemia.

Head and neck malignancies in Croatian renal transplant recipients.

PubMed

Basić-Jukić, Nikolina; Bubić-Filipi, Ljubica; Prgomet, Drago; Djanić Hadzibegović, Ana; Bilić, Mario; Kovac, Lana; Kastelan, Zeljko; Pasini, Josip; Mokos, Ivica; Basić-Koretić, Martina; Kes, Petar

2010-04-01

Renal transplantation is associated with increased incidence of cancer. We reviewed a large series of renal transplant recipients to determine the incidence and outcome of patients with malignant changes located at the head and neck. A total of 1232 renal transplant recipients have been followed at Department of Dialysis University Hospital Centre Zagreb from 1972 to 2009. Demographic data, localization and disease outcome were evaluated in patients who developed cancer. Twenty one patients (1.7%) developed 27 head and neck malignancies. The average time from transplantation to development of cancer was 56.8 months. The mean length of follow-up was 9.4+/-4.8 years. Eighteen malignancies were cutaneous in origin and 9 were noncutaneous. Of cutaneous malignancies, 88.9% were basal cell carcinoma; one patient had Merkell-cell carcinoma and one patient developed squamous cell carcinoma. Six cases of basocellular skin cancer were recorded in one fair-skin patient. Noncutaneous malignancies involved the oral cavity (2 cases of Kaposi's sarcoma and one pharyngeal cancer) and the thyroid gland in 3 patients each. Two patients had post-transplant lymphoproliferative disorder occurring at the head and neck. One patient had brain tumor. Radical surgery, radiation, and/or chemotherapy were necessary in 33.3% of patients. Immunosuppression was reduced in all patients, and 12 patients were switched from the calcineurin-based immunosuppression to sirolimus. They all have stable graft function. None of the patients died from cancer. Immunosuppression was ceased in one patient with Kaposi's sarcoma who returned to dialysis and died 10 years later from heart failure. An increased incidence of cancer occurring in the head and neck was recorded. Careful skin examination and oral examination is mandatory for discovering cancer before dissemination. Sirolimus is safe alternative to calcineurin-based immunosuppression in patients who developed head and neck malignancies.

CDKL5 variant in a boy with infantile epileptic encephalopathy: case report.

PubMed

Wong, Virginia Chun-Nei; Kwong, Anna Ka-Yee

2015-04-01

A Chinese boy presented at 18 months with intractable epilepsy, developmental delay and autistic features. He had multiple seizure types, including absence, myoclonic seizures, limb spasm and tonic seizures. His seizures were finally controlled at 3 years of age with clonazepam and a short course of chloral hydrate incidentally given for his insomnia. Subsequently, he had improvement in his communication skills. A novel hemizygous missense variant (c.1649G>A; p.R550Q) in exon 12 of CDKL5 gene was detected for him, his asymptomatic mother and elder sister. His phenotype is less severe than other male cases. We recommend screening CDKL5 for boys with pharmarco-resistant epilepsy and a trial of benzodiazepines for Infantile Epileptic Encephalopathy (IEE). Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Physical Therapy for a Child With Infantile Idiopathic Scoliosis and Motor Delay.

PubMed

Hall, Rhea K; Rapport, Mary Jane

2017-07-01

The purpose of this case report is to describe physical therapy (PT) for a child with infantile idiopathic scoliosis and motor delay. A 10-month-old boy with a 28° left thoracolumbar scoliosis was referred for PT and was seen weekly in his home over a 6-month period following a diagnosis of scoliosis and delayed gross motor milestones. Before the initiation of PT, the child was scheduled to undergo serial casting for correction of the spinal curve and was not yet rolling or transitioning in or out of sitting. By the end of the 6-month intervention period, the spinal curve had resolved to 12° without the need for serial casting and the child was walking independently. PT appeared to have a positive effect on reduction of the spinal curve and achievement of gross motor milestones.

[Malignant hyperthermia - problem in dental surgery. An introductory report].

PubMed

Kamińska, Ewa; Janas, Anna; Osica, Piotr

2014-01-01

Malignant hyperthermia is a genetic defect of uncontrolled hypermetabolic skeletal muscle response to anesthetic triggering drugs. Some congenital myopathies are regarded as risk increasing factors. The use of volatile anaesthetics or suxamethonium (succinylcholine) in patients who are predisposed to malignant hyperthermia leads to an increase in Ca2+ release from sarcoplasmic reticulum, which in turn causes a set of biochemical and clinical symptoms, which can be a cause of death, if dantrolene is not administered adequately. The aim of the study was to draw attention to the problem of malignant hyperthermia, which is hardly ever described in Polish literature, and requires the necessity of intensifying the cooperation between the dentist and specialists from other medical fields. The origin of the article was a case of congenital myopathy with recognized malignant hyperthermia in an 18-year-old patient, in whom surgical extraction of teeth was indicated. The course of diagnostics and treatment showed once more that contemporary medicine is in need of holistic approach, and in consequence, promising and effective cooperation of many specialists.

Internal stenting in malignant biliary obstruction.

PubMed

Cowling, M G; Adam, A N

2001-03-01

Internal stenting in inoperable malignant biliary obstruction plays an important role in patient management. Surgical bypass may still be undertaken where there is also duodenal obstruction, though the need for gastroenterostomy may be reduced with the increasing use of metallic stents for the relief of malignant gastric outlet obstruction. Stents may be placed endoscopically or percutaneously, though in most centers the endoscopic route is usually tried first, with the percutaneous route being reserved for endoscopic failures. Plastic and self-expanding metallic biliary stents are available, each with its own advantages and disadvantages. In general, longer periods of patency are observed with metallic stents, though they are more expensive. Plastic stents can be changed endoscopically relatively easily when they have blocked, and in practice it is common for plastic stents to be inserted via this route for initial biliary drainage. If there is prolonged survival thereafter, many workers insert a metallic stent in an attempt to reduce the number of interventions required. If the percutaneous route is being employed, the histologic diagnosis has been confirmed, and the malignancy is inoperable, our practice is to use a self-expanding metallic stent, as the delivery system is relatively small and subsequent occlusion less likely.

[Placental metastases from maternal malignancies: review of the literature].

PubMed

Dessolle, L; Dalmon, C; Roche, B; Daraï, E

2007-06-01

The purpose of this paper was to update and analyse all the reported cases of placental metastasis. These tumours are rare and seem to complicate aggressive or disseminated malignant melanomas, leukaemias, breast cancers and lung cancers. Maternal prognosis is poor. The risk factors of cancer in the newborn are unknown. In a pregnant woman with a history of malignancy, a systematic histological examination of the placenta for evidence of metastasis is required. Close observation and follow-up of the infant has to be recommended, especially in case of placental involvement. To estimate the incidence of placental metastases and to improve knowledge of their natural history, the creation of registries of malignancies associated with pregnancy is required.

Beyond textbook neuroanatomy: The syndrome of malignant PCA infarction.

PubMed

Gogela, Steven L; Gozal, Yair M; Rahme, Ralph; Zuccarello, Mario; Ringer, Andrew J

2015-01-01

Given its limited vascular territory, occlusion of the posterior cerebral artery (PCA) usually does not result in malignant infarction. Challenging this concept, we present 3 cases of unilateral PCA infarction with secondary malignant progression, resulting from extension into what would classically be considered the posterior middle cerebral artery (MCA) territory. Interestingly, these were true PCA infarctions, not "MCA plus" strokes, since the underlying occlusive lesion was in the PCA. We hypothesize that congenital and/or acquired variability in the distribution and extent of territory supplied by the PCA may underlie this rare clinical entity. Patients with a PCA infarction should thus be followed closely and offered early surgical decompression in the event of malignant progression.

[Neuropsychological studies of the gnostic processes in children with various forms of infantile cerebral palsy].

PubMed

Mamaĭchuk, I I

1992-01-01

Psychometric and neuropsychological studies were carried out in 182 patients with three forms of infantile cerebral paralysis (ICP). Of these, 112 children presented with spastic diplegia, 50 with hemiparetic diplegia, and 20 with hyperkinetic diplegia. The children's age ranged from 8 to 14 years. Depending on the form of ICP, the structural characteristics of intellect were defined as were specific features of the development of higher cortical functions depending on the localization of the underdevelopment of different brain areas. The classification of the structure of the disorders with the aid of the methods used makes it possible to have a differentiated approach to the medical and pedagogical correction of those patients.

Malignant nerve-sheath neoplasms in neurofibromatosis: distinction from benign tumors by using imaging techniques

DOE Office of Scientific and Technical Information (OSTI.GOV)

Levine, E.; Huntrakoon, M.; Wetzel, L.H.

Malignant peripheral nerve-sheath neoplasms frequently complicate neurofibromatosis causing pain, enlarging masses, or neurologic deficits. However, similar findings sometimes also occur with benign nerve neoplasms. Our study was done retrospectively to determine if imaging techniques can differentiate malignant from benign nerve tumors in neurofibromatosis. Eight patients with symptomatic neoplasms (three benign, five malignant) were studied by CT in eight, MR in six, and /sup 67/Ga-citrate scintigraphy in seven. Uptake of /sup 67/Ga occurred in all five malignant lesions but not in two benign neoplasms studied. On CT or MR, all eight lesions, including three benign neoplasms, showed inhomogeneities. Of five lesionsmore » with irregular, infiltrative margins on CT or MR, four were malignant and one was benign. Of three lesions with smooth margins, one was malignant and two were benign. One malignant neoplasm caused irregular bone destruction. Accordingly, CT and MR could not generally distinguish malignant from benign lesions with certainty. However, both CT and MR provided structural delineation to help surgical planning for both types of lesion. /sup 67/Ga scintigraphy appears promising as a screening technique to identify lesions with malignant degeneration in patients with neurofibromatosis. Any area of abnormal radiogallium uptake suggests malignancy warranting further evaluation by CT or MR. Biopsy of any questionable lesion is essential.« less

The usefulness of endoscopic ultrasonography in differentiation between benign and malignant gastric ulcer.

PubMed

Roganović, Branka; Perišić, Nenad; Roganović, Ana

2016-07-01

Gastric ulcer may be benign or malignant. In terms of therapy and patient’s prognosis early detection of malignancy is very important. The aim of this study was to assess the usefulness of endoscopic ultrasound (EUS) in differentiation between benign and malignant gastric ulcer. A prospective study included 20 consecutive adult patients with malignant gastric ulceration and 20 consecutive adult patients with benign gastric ulceration. All the patients underwent EUS. A total of 6 parameters were analyzed: ulcer width, ulcer depth, the thickness of the gastric wall along the edge of ulceration (T0), the thickness of the gastric wall 2 cm from the edge of ulceration (T2), loss of layering structure of the gastric wall, and the presence of regional lymph nodes. EUS criteria for malignancy and a point-score of malignancy were defined. The critical value of total point-score was also calculated showing the best reliability parameters. There are 4 criteria for malignancy of gastric ulceration: T0 > 10 mm, T2 > 5 mm, EUS visualization of at least one lymph node, loss of layering structure of the gastric wall. Furthermore, T2 > 5 mm was the only EUS independent predictor of ulcer malignancy. The total point score of ≥ 4 was the cut-off pointscore value which gave the best reliability parameters in the assessment of malignant ulcers: sensitivity of 70%, specificity of 95%, positive predictive value of 93.3%, negative predictive value of 76% and accuracy of 82.5%. According to the results obtained in this study, we can conclude that EUS is usefull in differentiation between benign and malignant gastric ulcer.

Extracellular Vesicles in Bile as Markers of Malignant Biliary Stenoses.

PubMed

Severino, Valeria; Dumonceau, Jean-Marc; Delhaye, Myriam; Moll, Solange; Annessi-Ramseyer, Isabelle; Robin, Xavier; Frossard, Jean-Louis; Farina, Annarita

2017-08-01

Algorithms for diagnosis of malignant common bile duct (CBD) stenoses are complex and lack accuracy. Malignant tumors secrete large numbers of extracellular vesicles (EVs) into surrounding fluids; EVs might therefore serve as biomarkers for diagnosis. We investigated whether concentrations of EVs in bile could discriminate malignant from nonmalignant CBD stenoses. We collected bile and blood samples from 50 patients undergoing therapeutic endoscopic retrograde cholangiopancreatography at university hospitals in Europe for CBD stenosis of malignant (pancreatic cancer, n = 20 or cholangiocarcinoma, n = 5) or nonmalignant (chronic pancreatitis [CP], n = 15) origin. Ten patients with CBD obstruction due to biliary stones were included as controls. EV concentrations in samples were determined by nanoparticle tracking analyses. The discovery cohort comprised the first 10 patients with a diagnosis of pancreatic cancer, based on tissue analysis, and 10 consecutive controls. Using samples from these subjects, we identified a threshold concentration of bile EVs that could best discriminate between patients with pancreatic cancer from controls. We verified the diagnostic performance of bile EV concentration by analyzing samples from the 30 consecutive patients with a diagnosis of malignant (pancreatic cancer or cholangiocarcinoma, n = 15) or nonmalignant (CP, n = 15) CBD stenosis. Samples were compared using the Mann-Whitney test and nonparametric Spearman correlation analysis. Receiver operating characteristic area under the curve was used to determine diagnostic accuracy. In both cohorts, the median concentration of EVs was significantly higher in bile samples from patients with malignant CBD stenoses than controls or nonmalignant CBD stenoses (2.41 × 10 15 vs 1.60 × 10 14 nanoparticles/L in the discovery cohort; P < .0001 and 4.00 × 10 15 vs 1.26 × 10 14 nanoparticles/L in the verification cohort; P < .0001). A threshold of 9.46 × 10 14 nanoparticles/L in

The yield of laboratory investigations in children with infantile autism.

PubMed

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

2005-04-01

To evaluate the yield of laboratory investigations in infantile autism. 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. One-hundred and thirty-two infants were included in the study of whom 47 (36%) underwent autistic regression at an average age of 20 months. The investigative procedures included electroencephalogram (n = 132), neuroimaging (n = 70), genetic studies to detect Fragile-X (n = 59) and a metabolic workup (n = 53). Except for the molecular diagnosis that revealed Fragile-X syndrome in two children (3%), all other tests were negative. The two infants with the Fragile-X syndrome belonged to the non-regressive group. The only investigative study that contributed to the diagnosis of autistic infants was the molecular diagnosis detecting Fragile-X. In spite of the high frequency of epilepsy and epileptiform abnormalities in the electroencephalograms of autistic children in general, the contribution of epilepsy, both clinical and subclinical, to the etiology of autism is apparently minimal.

Characterizing infantile hemangiomas with a near-infrared spectroscopic handheld wireless device

NASA Astrophysics Data System (ADS)

Fong, Christopher J.; Hoi, Jennifer W.; Kim, Hyun K.; Behr, Gerald; Geller, Lauren; Antonov, Nina; Flexman, Molly; Garzon, Maria; Hielscher, Andreas H.

2015-03-01

Infantile hemangiomas (IH) are common vascular growths that occur in 5-10% of neonates and have the potential to cause disfiguring and even life-threatening complications. Currently, no objective tool exist to monitor either progression or treatment of IH. To address this unmet clinical need, we have developed a handheld wireless device (HWD) that uses diffuse optical spectroscopy for the assessment of IH. The system employs 4 wavelengths (l=780nm, 805nm, 850nm, and 905nm) and 6 source-detector pairs with distances between 0.6 and 20 mm. Placed on the skin surface, backreflection data is obtained and a multispectral evolution algorithm is used to determine total hemoglobin concentration and tissue oxygen saturation. First results of an ongoing pilot study involving 13 patients (average enrollment age = 25 months) suggest that an increase in hypoxic stress over time can lead to the proliferation of IH. Involuting IH lesions showed an increase in tissue oxygen saturation as well as a decrease in total hemoglobin.

Erythrocyte Osmotic Fragility Testing and the Prediction of Canine Malignant Hyperthermia Susceptibility

PubMed Central

Cribb, Peter H.; Olfert, Ernest A.; Reynolds, F. Barry

1986-01-01

A Doberman-German Shepherd cross-bred male dog, previously diagnosed as malignant hyperthermia susceptible, was mated to an unrelated nonsusceptible German Shepherd cross-bred female. The resultant litter was subjected to hematological, biochemical and erythrocyte osmotic fragility testing in an endeavor to predict the susceptibility of individuals to malignant hyperthermia. Laboratory evaluations were repeated at one year of age and the litter subjected to the halothane challenge test. No significant difference in erythrocyte osmotic fragility was found between malignant hyperthermia susceptible and nonsusceptible siblings at six weeks or at one year of age. Erythrocyte osmotic fragility, in both malignant hyperthermia susceptible and nonsusceptible animals, increased between six weeks and one year of age. Dantrolene sodium was an effective treatment for malignant hyperthermia in the dog when administered early in an episode and in adequate dosage. The initial sign of a malignant hyperthermia episode was a very rapid increase in end tidal partial pressure of carbon dioxide. This finding reinforces the value of capnographic monitoring in anesthesia. PMID:17422730

Differential diagnosis between benign and malignant soft tissue tumors utilizing ultrasound parameters.

PubMed

Morii, Takeshi; Kishino, Tomonori; Shimamori, Naoko; Motohashi, Mitsue; Ohnishi, Hiroaki; Honya, Keita; Aoyagi, Takayuki; Tajima, Takashi; Ichimura, Shoichi

2018-01-01

Preoperative discrimination between benign and malignant soft tissue tumors is critical for the prevention of excess application of magnetic resonance imaging and biopsy as well as unplanned resection. Although ultrasound, including power Doppler imaging, is an easy, noninvasive, and cost-effective modality for screening soft tissue tumors, few studies have investigated reliable discrimination between benign and malignant soft tissue tumors. To establish a modality for discrimination between benign and malignant soft tissue tumors using ultrasound, we extracted the significant risk factors for malignancy based on ultrasound information from 40 malignant and 56 benign pathologically diagnosed soft tissue tumors and established a scoring system based on these risk factors. The maximum size, tumor margin, and vascularity evaluated using ultrasound were extracted as significant risk factors. Using the odds ratio from a multivariate regression model, a scoring system was established. Receiver operating characteristic analyses revealed a high area under the curve value (0.85), confirming the accuracy of the scoring system. Ultrasound is a useful modality for establishing the differential diagnosis between benign and malignant soft tissue tumors.

The Use of Cryotherapy to Treat Infantile Digital Fibromatosis with a Functional Deficit: A Case Report.

PubMed

Kramer, Aviv; Har-Shai, Yaron; Metanes, Isa; Harel, Hani; Wollstein, Ronit

2018-06-01

Infantile Digital Fibromatosis (IDF) is a rare benign lesion that can affect the fingers, often appearing at birth or early on in life. Treatment is controversial due to a high recurrence rate following surgical excision, and the tendency of the lesions to regress or resolve completely after the age of one year. Functional loss has rarely been described. We describe a case of IDF with joint contracture and significant functional deficit that was treated with cryotherapy and post procedural occupational therapy with an excellent result. Indications for treatment and cryotherapy as a therapeutic modality for IDF are discussed.

Ultrasound-Based Risk Stratification for Malignancy in Thyroid Nodules: A Four-Tier Categorization System.

PubMed

Seo, Hyobin; Na, Dong Gyu; Kim, Ji-Hoon; Kim, Kyung Won; Yoon, Ji Won

2015-07-01

The purpose of this study was to stratify the malignancy risk of US features, with an emphasis on nodule echogenicity. A total of 1,058 nodules of 824 consecutive patients (236 malignant and 822 benign) were included in this study. Malignancy risk of each nodule was analyzed according to US features, with an emphasis on nodule echogenecity, and was stratified into 4-tier categories. In multivariate analysis, isoechogenicity, indistinct margin, non-solid internal content, and parallel orientation were predictive of benign nodules (P < 0.002), while hypoechogenicity, marked hypoechogenicity, spiculated/microlobulated margin, solid content, nonparallel orientation (taller than wide), microcalcification, and macrocalcification were predictive of malignancy (P ≤ 0.037). Although the presence of US features associated with malignancy was significantly predictive of malignancy in hypoechoic and markedly hypoechoic nodules (P ≤ 0.004), it was not associated with malignancy in isoechoic or hyperechoic nodules. Thyroid nodules could be stratified into four categories according to the malignancy risk: benign (risk 0%), probably benign (risk ≤ 5%), indeterminate (risk > 5 and < 50%), and suspicion of malignancy (risk > 50%). The US-based four-tier categorization system will be useful for predicting the risk of malignancy and decisions regarding FNA for thyroid nodules. • No US feature was predictive of malignancy in isoechoic nodules. • Isoechoic nodules without calcification can be included in the probably benign category. • We suggest a four-tier categorization stratified primarily by nodule echogenecity. • The four-tier categorization of thyroid nodules will be useful for FNA decisions.

Evaluation of open-label topiramate as primary or adjunctive therapy in infantile spasms.

PubMed

Zou, Li-Ping; Lin, Qing; Qin, Jiong; Cai, Fang-Cheng; Liu, Zhi-Sheng; Mix, Eilhard

2008-01-01

A multicenter open-label clinical trial was conducted to evaluate the clinical usefulness of topiramate (TPM) as primary or adjunctive therapy for infantile spasms in the postmarketing period in China. Thirty-four centers participated in the trial. Patients included in the study had 1 or more seizures per day before treatment. One hundred twenty (22.1%) very young patients with an age younger than 6 month and 64.2% of patients were younger than 1 year at start of treatment. All patients received a starting dose of 0.5 to 1 mg kg d TPM twice daily. The dosage was increased by 0.5 to 1 mg kg d every 5 to 7 days up to 3 to 5 mg kg d. The resulting range of the total TPM dosage was 25 to 200 mg d (3.57-20 mg kg d), with a median value of 73.9 mg d. Seizure outcomes were measured by intention-to-treat analysis. Patients were seen by a neurologist, and their data were evaluated at the day of inclusion and after 4, 8, 12, 16, and 20 weeks (from visit 1 to visit 5) of treatment. Five hundred forty-four patients entered the study. After 20 weeks of TPM treatment, 239 patients (43.9%) were seizure-free. A higher proportion of patients in the monotherapy group than in the add-on therapy group showed a seizure rate reduction. An increase in seizure frequency was observed in 8 patients (1.5%) during the 20-week treatment period. Nineteen patients were withdrawn before completing the study, and in 46 cases, some data of the structured data files and questionnaires were missing. No efficacy of TPM treatment was recorded in these cases. Adverse effects occurred in 211 patients (38.8%). Most frequent side effects were anorexia and somnolence. Topiramate proved to be an effective and safe monotherapy and add-on therapy in patients with infantile spasms younger than 1 year.

[Herpes simplex virus and malignancies of female genital organs].

PubMed

Cokić-Damjanović, J; Horvat, E; Balog, A

2001-01-01

Primary herpes simplex virus (HSV) infections of female genital tract usually end with remission, while the virus remains in the organism--almost in the sacral ganglion in a latent form, protected from humoral and cellular immunity. Stress induces the virus and the result is recurrent genital infection. Frequent exacerbations damage some parts of vital cellular structures without cytolysis, but stimulate malignant transformations. Vulvar (portio vaginalis uteri) and endometrial tumor tissue samples were analyzed for HSV by direct and indirect fluorescent antibody technique (FAT). Pre and postoperative sera samples were analyzed for presence of anti-HSV antibodies--IgM and IgG by Elisa-Enzygnost method. Acellular filtrates obtained by ultrasonic destruction of malignant tissues were used as inoculum for rabbit corneal scarification. Out of 63 tissue samples, 42 were positive for HSV antigen i.e. 67.3%. According to location 50% of vulvar, 76% PVU and 65% of endometrial tissues were positive. This antigen induces production of virus specific antibodies. Two types of antigens are known: the so-called T-antigen persisting in the cell nucleus and cell-surface antigen--product of the viral genome and can be evidenced by immunofluorescence method. Anti HSV antibodies were present in 63 preoperative serum samples and belonged to IgG group, but not one to IgM, implying a long and chronic course of infection excluding acute primary. Out of 38 postoperative serums the titer of antibodies decreased in 36 evidently, but in two samples remained unchanged. Two samples of endometrial and one from PVU origin contained HSV antigen type one. In the remaining 16 samples HSV 2 antigen was present. Rabbit corneal scarification was the proof of complete infectious virus in malignant tissues. Acellular filtrate of malignant tissues served as inoculum. Corneas of examined rabbits showed a mild inflammation after 24 hours which disappeared in the next 24 hours. We could not isolate the