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Sample records for eye malformations implications

  1. Eye malformations in Cameroonian children: a clinical survey

    PubMed Central

    Eballé, André Omgbwa; Ellong, Augustin; Koki, Godefroy; Nanfack, Ngoune Chantal; Dohvoma, Viola Andin; Mvogo, Côme Ebana

    2012-01-01

    Summary The aim of this work was to describe the clinical aspects of eye malformations observed at the ophthalmology unit of the Yaoundé Gynaecology, Obstetrics and Pediatrics Hospital. Patients and methods We carried out a retrospective study of all malformations of the eye and its adnexae observed among children aged 0–5 years who were seen at the ophthalmology unit from January 2003 to December 2009. Results Out of the 2254 children who were examined, 150 (6.65%) presented eye malformations. The mean age was 14.40 ± 4 months. Eye malformations were diagnosed in 71.66% of cases during the first year of life. The most frequent malformations were congenital lacrimal duct obstruction (66.66%), congenital cataract (10.9%), congenital glaucoma (10.9%), microphthalmos (5.03%), and congenital ptosis (3.77%). Conclusion Eye malformations among children can lead to visual impairment and are a cause for discomfort to children and parents. Therefore, systematic postnatal screening is recommended to enable early management. PMID:23055685

  2. Deletion 6(p25.1) in a child with mild dysmorphic features and absence of major eye malformations: Implications for the location of genes involved in ocular development

    SciTech Connect

    Tepperberg, J.H.; Rao, K.W.; Albright, S.G.

    1994-09-01

    The authors describe a young girl with an apparently terminal deletion of chromosome 6 at p25.1 Fluorescence in situ hybridization with a chromosome 6 painting probe (ONCOR), showed that the abnormal chromosome 6 is composed entirely of chromosome 6 material. Analysis of the parents chromosomes with the same paint probe ruled out an inherited structural abnormality. To our knowledge, this case is the smallest terminal deletion of 6p yet reported. The patient is a 4 year, 6 month old female who was 3300g at birth. She has global developmental delay and little intelligible speech. Her weight is at the 25th centile, height at the 50th centile for a 3 1/2-year-old, and head circumference at the 25th centile. The eyes are prominent with shallow orbits. She has mild hyperopia and astigmatism. The philtrum is short and the vermillion border is thin. The midface is hypoplastic and there is dental malocclusion. Some of the common features reported in individuals with larger 6p terminal deletions include mental retardation, microcephaly, eye and ear abnormalities, short neck/excess nuchal skin, and flat broad nasal bridge. Our patient lacks several of the features reported in patients with larger deletions of 6p, including the more severe eye defects (e.g., anterior segment malformations including Peters and Rieger anomalies) described in individuals with 6p23 or 24 terminal deletions. This patient could be important in mapping the critical region for 6p deletion syndrome and for localizing clinical findings to a specific area of 6p. This case also raises the possibility that the gene(s) on 6p important for ocular growth and development are located proximal to 6p25.1.

  3. Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.

    PubMed

    Bourchany, A; Giurgea, I; Thevenon, J; Goldenberg, A; Morin, G; Bremond-Gignac, D; Paillot, C; Lafontaine, P O; Thouvenin, D; Massy, J; Duncombe, A; Thauvin-Robinet, C; Masurel-Paulet, A; Chehadeh, S El; Huet, F; Bron, A; Creuzot-Garcher, C; Lyonnet, S; Faivre, L

    2015-07-01

    Mowat-Wilson syndrome (MWS) is a rare genetic syndrome characterized by a specific facial gestalt, intellectual deficiency, Hirschsprung disease and multiple congenital anomalies. Heterozygous mutations or deletions in the zinc finger E-box-binding homeobox2 gene (ZEB2) cause MWS. ZEB2 encodes for Smad-interacting protein 1, a transcriptional co-repressor involved in TGF-beta and BMP pathways and is strongly expressed in early stages of development in mice. Eye abnormalities have rarely been described in patients with this syndrome. Herein, we describe four patients (two males and two females; mean age 7 years) with MWS and eye malformations. Ocular anomalies included, iris/retinal colobomas, atrophy or absence of the optic nerve, hyphema, and deep refraction troubles, sometimes with severe visual consequences. All eye malformations were asymmetric and often unilateral and all eye segments were affected, similarly to the nine MWS cases with ophthalmological malformations previously reported (iris/chorioretinal/optic disc coloboma, optic nerve atrophy, retinal epithelium atrophy, cataract, and korectopia). In human embryo, ZEB2 is expressed in lens and neural retina. Using the present report and data from the literature, we set out to determine whether or not the presence of eye manifestations could be due to specific type or location of mutations. We concluded that the presence of eye malformations, although a rare feature in MWS, should be considered as a part of the clinical spectrum of the condition. PMID:25899569

  4. Proanthocyanidins Prevent High Glucose-Induced Eye Malformation by Restoring Pax6 Expression in Chick Embryo

    PubMed Central

    Tan, Rui-Rong; Zhang, Shi-Jie; Li, Yi-Fang; Tsoi, Bun; Huang, Wen-Shan; Yao, Nan; Hong, Mo; Zhai, Yu-Jia; Mao, Zhong-Fu; Tang, Lu-Ping; Kurihara, Hiroshi; Wang, Qi; He, Rong-Rong

    2015-01-01

    Gestational diabetes mellitus (GDM) is one of the leading causes of offspring malformations, in which eye malformation is an important disease. It has raised demand for therapy to improve fetal outcomes. In this study, we used chick embryo to establish a GDM model to study the protective effects of proanthocyanidins on eye development. Chick embryos were exposed to high glucose (0.2 mmol/egg) on embryo development day (EDD) 1. Proanthocyanidins (1 and 10 nmol/egg) were injected into the air sac on EDD 0. Results showed that both dosages of proanthocyanidins could prevent the eye malformation and rescue the high glucose-induced oxidative stress significantly, which the similar effects were showed in edaravone. However, proanthocyanidins could not decrease the glucose concentration of embryo eye. Moreover, the key genes regulating eye development, Pax6, was down-regulated by high glucose. Proanthocyanidins could restore the suppressed expression of Pax6. These results indicated proanthocyanidins might be a promising natural agent to prevent high glucose-induced eye malformation by restoring Pax6 expression. PMID:26262640

  5. A new gestational diabetes mellitus model: hyperglycemia-induced eye malformation via inhibition of Pax6 in the chick embryo

    PubMed Central

    Zhang, Shi-Jie; Li, Yi-Fang; Tan, Rui-Rong; Tsoi, Bun; Huang, Wen-Shan; Huang, Yi-Hua; Tang, Xiao-Long; Hu, Dan; Yao, Nan; Yang, Xuesong; Kurihara, Hiroshi; Wang, Qi; He, Rong-Rong

    2016-01-01

    ABSTRACT Gestational diabetes mellitus (GDM) is one of the leading causes of fetal malformations. However, few models have been developed to study the underlying mechanisms of GDM-induced fetal eye malformation. In this study, a high concentration of glucose (0.2 mmol per egg) was injected into the air sac of chick embryos on embryo development day (EDD) 1 to develop a hyperglycemia model. Results showed that 47.3% of embryonic eye malformation happened on EDD 5. In this model, the key genes regulating eye development, Pax6, Six3 and Otx2, were downregulated by hyperglycemia. Among these genes, the expression of Pax6 was the most vulnerable to hyperglycemia, being suppressed by 70%. A reduction in Pax6 gene expression induced eye malformation in chick embryos. However, increased expression of Pax6 in chick embryos could rescue hyperglycemia-induced eye malformation. Hyperglycemia stimulated O-linked N-acetylglucosaminylation, which caused oxidative stress in chick embryos. Pax6 was found to be vulnerable to free radicals, but the antioxidant edaravone could restore Pax6 expression and reverse eye malformation. These results illustrated a successful establishment of a new chick embryo model to study the molecular mechanism of hyperglycemia-induced eye malformation. The suppression of the Pax6 gene is probably mediated by oxidative stress and could be a crucial target for the therapy of GDM-induced embryonic eye malformation. PMID:26744353

  6. Implications of an Incidental Pulmonary Arteriovenous Malformation

    PubMed Central

    Holden, Van K.; Shah, Nirav G.; Verceles, Avelino C.

    2016-01-01

    Introduction. Pulmonary arteriovenous malformations (PAVMs) have been associated with life-threatening complications, such as stroke and massive hemoptysis, thus posing significant morbidity if left untreated. We report a case of an incidental finding of a PAVM in a trauma patient newly recognized to have suspected hereditary hemorrhagic telangiectasia (HHT). Case Description. A 34-year-old man with a history of recurrent epistaxis presented with a sudden fall associated with seizure-like activity. Trauma imaging showed a large subdural hematoma and, incidentally, a serpiginous focus within the right upper lobe with a prominent feeding artery consistent with a PAVM. The patient was diagnosed with a simple PAVM related to possible or suspected HHT, an autosomal dominant trait with age-related penetrance. He underwent a pulmonary arteriography of the right upper and lower lobe with the use of a microcatheter system; however, the PAVM could not be visualized. Thus, he was managed medically. The patient was educated on the need for prophylactic antibiotics prior to dental procedures and surveillance imaging. Discussion. Our case highlights the importance of obtaining a complete past medical and family history in young patients with a history of recurrent epistaxis to elicit features of HHT. The diagnosis can be made clinically and directly affects family members, who would otherwise not receive appropriate screening. PMID:27027094

  7. Prevalence of skeletal and eye malformations in frogs from north-central United States: estimations based on collections from randomly selected sites

    USGS Publications Warehouse

    Schoff, P.K.; Johnson, C.M.; Schotthoefer, A.M.; Murphy, J.E.; Lieske, C.; Cole, R.A.; Johnson, L.B.; Beasley, V.R.

    2003-01-01

    Skeletal malformation rates for several frog species were determined in a set of randomly selected wetlands in the north-central USA over three consecutive years. In 1998, 62 sites yielded 389 metamorphic frogs, nine (2.3%) of which had skeletal or eye malformations. A subset of the original sites was surveyed in the following 2 yr. In 1999, 1,085 metamorphic frogs were collected from 36 sites and 17 (1.6%) had skeletal or eye malformations, while in 2000, examination of 1,131 metamorphs yielded 16 (1.4%) with skeletal or eye malformations. Hindlimb malformations predominated in all three years, but other abnormalities, involving forelimb, eye, and pelvis were also found. Northern leopard frogs (Rana pipiens) constituted the majority of collected metamorphs as well as most of the malformed specimens. However, malformations were also noted in mink frogs (R. septentrionalis), wood frogs (R. sylvatica), and gray tree frogs (Hyla spp.). The malformed specimens were found in clustered sites in all three years but the cluster locations were not the same in any year. The malformation rates reported here are higher than the 0.3% rate determined for metamorphic frogs collected from similar sites in Minnesota in the 1960s, and thus, appear to represent an elevation of an earlier baseline malformation rate.

  8. Eye mechanics and their implications for eye movement control

    NASA Astrophysics Data System (ADS)

    Koene, Ansgar Roald

    2002-11-01

    The topic of this thesis is the investigation of the mechanical properties of the oculomotor system and the implications of these properties for eye movement control. The investigation was conducted by means of computer models and simulations. This allowed us to combine data from anatomy, physiology and psychophysics with basic principles of physics (mechanics) and mathematics (geometry). In chapter 2 we investigate the degree to which mechanical and neural non-linearities contribute to the kinematic differences between centrifugal and centripetal saccades. On the basis of the velocity profiles of centrifugal and centripetal saccades we calculate the forces and muscle innervations during these eye movements. This was done using an inverted model of the eye plant. Our results indicate that the non-linear force-velocity relationship (i.e. muscle viscosity) of the muscles is probably the cause of the kinematic differences between centrifugal and centripetal saccades. In chapter 3 we calculate the adjustment of the saccadic command that is necessary to compensate for the eye plant non-linearities. These calculations show that the agonist and antagonist muscles require different net saccade signal gain changes. In order to better understand how this gain change is accomplished we use the inverted model of the eye plant (chapter 2) to calculate the muscle innervation profiles of saccades with different starting orientations. Based on these calculations we conclude that the saccade signal gain changes are accomplished primarily by changes in the magnitude of the saccade signal. In chapter 4 we examine the requirements that the oculomotor system must meet for the eye to be able to make desired gaze changes and fixate at various eye orientations. We first determine how the axes of action (i.e. unit moment vectors) of the muscles are related to eye orientation and the location of the effective muscle origin (i.e. the muscle pulleys). Next we show how this relation constrains

  9. A Trans-Acting Protein Effect Causes Severe Eye Malformation in the Mp Mouse

    PubMed Central

    Rainger, Joe; Keighren, Margaret; Keene, Douglas R.; Charbonneau, Noe L.; Rainger, Jacqueline K.; Fisher, Malcolm; Mella, Sebastien; Huang, Jeffrey T-J.; Rose, Lorraine; van't Hof, Rob; Sakai, Lynne Y.; Jackson, Ian J.; FitzPatrick, David R.

    2013-01-01

    Mp is an irradiation-induced mouse mutation associated with microphthalmia, micropinna and hind limb syndactyly. We show that Mp is caused by a 660 kb balanced inversion on chromosome 18 producing reciprocal 3-prime gene fusion events involving Fbn2 and Isoc1. The Isoc1-Fbn2 fusion gene (Isoc1Mp) mRNA has a frameshift and early stop codon resulting in nonsense mediated decay. Homozygous deletions of Isoc1 do not support a significant developmental role for this gene. The Fbn2-Isoc1 fusion gene (Fbn2 Mp) predicted protein consists of the N-terminal Fibrillin-2 (amino acids 1–2646, exons 1–62) lacking the C-terminal furin-cleavage site with a short out-of-frame extension encoded by the final exon of Isoc1. The Mp limb phenotype is consistent with that reported in Fbn2 null embryos. However, severe eye malformations, a defining feature of Mp, are not seen in Fbn2 null animals. Fibrillin-2Mp forms large fibrillar structures within the rough endoplasmic reticulum (rER) associated with an unfolded protein response and quantitative mass spectrometry shows a generalised defect in protein secretion in conditioned media from mutant cells. In the embryonic eye Fbn2 is expressed within the peripheral ciliary margin (CM). Mp embryos show reduced canonical Wnt-signalling in the CM – known to be essential for ciliary body development - and show subsequent aplasia of CM-derived structures. We propose that the Mp “worse-than-null” eye phenotype plausibly results from a failure in normal trafficking of proteins that are co-expressed with Fbn2 within the CM. The prediction of similar trans-acting protein effects will be an important challenge in the medical interpretation of human mutations from whole exome sequencing. PMID:24348270

  10. Chiari Type I Malformations in Young Adults: Implications for the College Health Practitioner

    ERIC Educational Resources Information Center

    Elam, Mary Jane; Vaughn, John A.

    2011-01-01

    In this article, the authors describe 2 cases of Chiari type I malformation (CM-I) in students presenting to a college health center within a 6-month period. A review of CM-I, including epidemiology, typical presentation, evaluation, and management, is followed by a discussion of the clinical and functional implications of the disorder in an…

  11. The Arnold-Chiari Malformation and Its Implications for Individuals with Spina Bifida and Hydrocephalus.

    ERIC Educational Resources Information Center

    Mittler, Joel E.

    1986-01-01

    The Arnold-Chiari malformation is present in most infants born with myelomeningocele (a form of spina bifida) and hydrocephalus. The syndrome is responsible for structural abnormalities in the brain, and peripheral nervous system. Etiology, symptoms, impact on central nervous system structures, surgical treatment, and implications for education…

  12. Meis1 coordinates a network of genes implicated in eye development and microphthalmia.

    PubMed

    Marcos, Séverine; González-Lázaro, Monica; Beccari, Leonardo; Carramolino, Laura; Martin-Bermejo, Maria Jesus; Amarie, Oana; Mateos-San Martín, Daniel; Torroja, Carlos; Bogdanović, Ozren; Doohan, Roisin; Puk, Oliver; Hrabě de Angelis, Martin; Graw, Jochen; Gomez-Skarmeta, Jose Luis; Casares, Fernando; Torres, Miguel; Bovolenta, Paola

    2015-09-01

    Microphthalmos is a rare congenital anomaly characterized by reduced eye size and visual deficits of variable degree. Sporadic and hereditary microphthalmos have been associated with heterozygous mutations in genes fundamental for eye development. Yet, many cases are idiopathic or await the identification of molecular causes. Here we show that haploinsufficiency of Meis1, which encodes a transcription factor with evolutionarily conserved expression in the embryonic trunk, brain and sensory organs, including the eye, causes microphthalmic traits and visual impairment in adult mice. By combining analysis of Meis1 loss-of-function and conditional Meis1 functional rescue with ChIP-seq and RNA-seq approaches we show that, in contrast to its preferential association with Hox-Pbx BSs in the trunk, Meis1 binds to Hox/Pbx-independent sites during optic cup development. In the eye primordium, Meis1 coordinates, in a dose-dependent manner, retinal proliferation and differentiation by regulating genes responsible for human microphthalmia and components of the Notch signaling pathway. In addition, Meis1 is required for eye patterning by controlling a set of eye territory-specific transcription factors, so that in Meis1(-/-) embryos boundaries among the different eye territories are shifted or blurred. We propose that Meis1 is at the core of a genetic network implicated in eye patterning/microphthalmia, and represents an additional candidate for syndromic cases of these ocular malformations. PMID:26253404

  13. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.

    PubMed

    Rainger, Joe; Pehlivan, Davut; Johansson, Stefan; Bengani, Hemant; Sanchez-Pulido, Luis; Williamson, Kathleen A; Ture, Mehmet; Barker, Heather; Rosendahl, Karen; Spranger, Jürgen; Horn, Denise; Meynert, Alison; Floyd, James A B; Prescott, Trine; Anderson, Carl A; Rainger, Jacqueline K; Karaca, Ender; Gonzaga-Jauregui, Claudia; Jhangiani, Shalini; Muzny, Donna M; Seawright, Anne; Soares, Dinesh C; Kharbanda, Mira; Murday, Victoria; Finch, Andrew; Gibbs, Richard A; van Heyningen, Veronica; Taylor, Martin S; Yakut, Tahsin; Knappskog, Per M; Hurles, Matthew E; Ponting, Chris P; Lupski, James R; Houge, Gunnar; FitzPatrick, David R

    2014-06-01

    We identified four different missense mutations in the single-exon gene MAB21L2 in eight individuals with bilateral eye malformations from five unrelated families via three independent exome sequencing projects. Three mutational events altered the same amino acid (Arg51), and two were identical de novo mutations (c.151C>T [p.Arg51Cys]) in unrelated children with bilateral anophthalmia, intellectual disability, and rhizomelic skeletal dysplasia. c.152G>A (p.Arg51His) segregated with autosomal-dominant bilateral colobomatous microphthalmia in a large multiplex family. The fourth heterozygous mutation (c.145G>A [p.Glu49Lys]) affected an amino acid within two residues of Arg51 in an adult male with bilateral colobomata. In a fifth family, a homozygous mutation (c.740G>A [p.Arg247Gln]) altering a different region of the protein was identified in two male siblings with bilateral retinal colobomata. In mouse embryos, Mab21l2 showed strong expression in the developing eye, pharyngeal arches, and limb bud. As predicted by structural homology, wild-type MAB21L2 bound single-stranded RNA, whereas this activity was lost in all altered forms of the protein. MAB21L2 had no detectable nucleotidyltransferase activity in vitro, and its function remains unknown. Induced expression of wild-type MAB21L2 in human embryonic kidney 293 cells increased phospho-ERK (pERK1/2) signaling. Compared to the wild-type and p.Arg247Gln proteins, the proteins with the Glu49 and Arg51 variants had increased stability. Abnormal persistence of pERK1/2 signaling in MAB21L2-expressing cells during development is a plausible pathogenic mechanism for the heterozygous mutations. The phenotype associated with the homozygous mutation might be a consequence of complete loss of MAB21L2 RNA binding, although the cellular function of this interaction remains unknown. PMID:24906020

  14. Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations

    PubMed Central

    Rainger, Joe; Pehlivan, Davut; Johansson, Stefan; Bengani, Hemant; Sanchez-Pulido, Luis; Williamson, Kathleen A.; Ture, Mehmet; Barker, Heather; Rosendahl, Karen; Spranger, Jürgen; Horn, Denise; Meynert, Alison; Floyd, James A.B.; Prescott, Trine; Anderson, Carl A.; Rainger, Jacqueline K.; Karaca, Ender; Gonzaga-Jauregui, Claudia; Jhangiani, Shalini; Muzny, Donna M.; Seawright, Anne; Soares, Dinesh C.; Kharbanda, Mira; Murday, Victoria; Finch, Andrew; Hurles, Matthew; FitzPatrick, David R.; Al-Turki, Saeed; Anderson, Carl; Barroso, Inês; Beales, Philip; Bentham, Jamie; Bhattacharya, Shoumo; Carss, Keren; Chatterjee, Krishna; Cirak, Sebhattin; Cosgrove, Catherine; Daly, Allan; Floyd, Jamie; Franklin, Chris; Futema, Marta; Humphries, Steve; McCarthy, Shane; Mitchison, Hannah; Muntoni, Francesco; Onoufriadis, Alexandros; Parker, Victoria; Payne, Felicity; Plagnol, Vincent; Raymond, Lucy; Savage, David; Scambler, Peter; Schmidts, Miriam; Semple, Robert; Serra, Eva; Stalker, Jim; van Kogelenberg, Margriet; Vijayarangakannan, Parthiban; Walter, Klaudia; Wood, Gretta; Gibbs, Richard A.; van Heyningen, Veronica; Taylor, Martin S.; Yakut, Tahsin; Knappskog, Per M.; Hurles, Matthew E.; Ponting, Chris P.; Lupski, James R.; Houge, Gunnar; FitzPatrick, David R.

    2014-01-01

    We identified four different missense mutations in the single-exon gene MAB21L2 in eight individuals with bilateral eye malformations from five unrelated families via three independent exome sequencing projects. Three mutational events altered the same amino acid (Arg51), and two were identical de novo mutations (c.151C>T [p.Arg51Cys]) in unrelated children with bilateral anophthalmia, intellectual disability, and rhizomelic skeletal dysplasia. c.152G>A (p.Arg51His) segregated with autosomal-dominant bilateral colobomatous microphthalmia in a large multiplex family. The fourth heterozygous mutation (c.145G>A [p.Glu49Lys]) affected an amino acid within two residues of Arg51 in an adult male with bilateral colobomata. In a fifth family, a homozygous mutation (c.740G>A [p.Arg247Gln]) altering a different region of the protein was identified in two male siblings with bilateral retinal colobomata. In mouse embryos, Mab21l2 showed strong expression in the developing eye, pharyngeal arches, and limb bud. As predicted by structural homology, wild-type MAB21L2 bound single-stranded RNA, whereas this activity was lost in all altered forms of the protein. MAB21L2 had no detectable nucleotidyltransferase activity in vitro, and its function remains unknown. Induced expression of wild-type MAB21L2 in human embryonic kidney 293 cells increased phospho-ERK (pERK1/2) signaling. Compared to the wild-type and p.Arg247Gln proteins, the proteins with the Glu49 and Arg51 variants had increased stability. Abnormal persistence of pERK1/2 signaling in MAB21L2-expressing cells during development is a plausible pathogenic mechanism for the heterozygous mutations. The phenotype associated with the homozygous mutation might be a consequence of complete loss of MAB21L2 RNA binding, although the cellular function of this interaction remains unknown. PMID:24906020

  15. The Great Divide: Understanding Cloacal Septation, Malformation, and Implications for Surgeons

    PubMed Central

    Gupta, Anita; Bischoff, Andrea; Peña, Alberto; Runck, Laura A.

    2015-01-01

    The anorectal and urogenital systems arise from a common embryonic structure termed cloaca. Subsequent development leads to the division/septation of the cloaca into the urethra, urinary bladder, vagina, anal canal, and rectum. Defective cloacal development and the resulting anorectal and urogenital malformations are some of the most severe congenital anomalies encountered in children. In the most severe form in females, the rectum, vagina, and urethra fail to develop separately and drain via a single common channel known as a cloaca into the perineum. In this review, we summarize our current knowledge of embryonic cloaca development and malformation, and compare them to what has already been described in literature. We describe the use of mouse models of cloaca malformation to understand which signaling pathways and cellular mechanisms are involved in the process of normal cloaca development. We also discuss the embryological correlation of the epithelial and stromal histology found in step sections of the common channel in fourteen human cloaca malformations. Finally, we highlight the significance of these findings, compare them to prior studies, and discuss their implications for the pediatric surgeons. Understanding and identifying the molecular basis for cloaca malformation could provide foundation for tissue engineering efforts that in the future would reflect better surgical reconstruction and improved quality of life for patients. PMID:25217828

  16. Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment

    PubMed Central

    Siminas, Sotirios; Baillie, Colin Tennant; Turnock, Richard

    2015-01-01

    Kabuki syndrome (KS) is a rare genetic condition characterized by a distinctive facies, intellectual disability, growth delay, and a variety of skeletal, visceral, and other anomalies, including anorectal malformations (ARMs). We present two cases of female patients with KS, diagnosed and successfully managed at our institution, one with a perineal fistula and one with a rectovestibular fistula. Our report, along with a literature review, shows that the syndrome is usually associated with “low” anomalies, with a potential for a good prognosis. Management of the anorectal anomaly in patients with KS is not essentially different from that in other nonsyndromic patients, taking into account the frequent association of the syndrome with serious congenital heart disease, which might affect the decision-making and timing of the stages of anorectal reconstruction. The frequent occurrence of learning and feeding difficulties makes establishment of toilet training and bowel management rather more challenging, requiring the expertise of a multidisciplinary team. The finding of ARMs in female patients with other characteristics of KS, although inconstant, could support the clinical suspicion for the syndrome until genetic confirmation is available, and should alert the physician for the potential of severe cardiac defects. PMID:26171318

  17. Strategies for assessing the implications of malformed frogs for environmental health.

    PubMed

    Burkhart, J G; Ankley, G; Bell, H; Carpenter, H; Fort, D; Gardiner, D; Gardner, H; Hale, R; Helgen, J C; Jepson, P; Johnson, D; Lannoo, M; Lee, D; Lary, J; Levey, R; Magner, J; Meteyer, C; Shelby, M D; Lucier, G

    2000-01-01

    The recent increase in the incidence of deformities among natural frog populations has raised concern about the state of the environment and the possible impact of unidentified causative agents on the health of wildlife and human populations. An open workshop on Strategies for Assessing the Implications of Malformed Frogs for Environmental Health was convened on 4-5 December 1997 at the National Institute of Environmental Health Sciences in Research Triangle Park, North Carolina. The purpose of the workshop was to share information among a multidisciplinary group with scientific interest and responsibility for human and environmental health at the federal and state level. Discussions highlighted possible causes and recent findings directly related to frog deformities and provided insight into problems and strategies applicable to continuing investigation in several areas. Possible causes of the deformities were evaluated in terms of diagnostics performed on field amphibians, biologic mechanisms that can lead to the types of malformations observed, and parallel laboratory and field studies. Hydrogeochemistry must be more integrated into environmental toxicology because of the pivotal role of the aquatic environment and the importance of fates and transport relative to any potential exposure. There is no indication of whether there may be a human health factor associated with the deformities. However, the possibility that causal agents may be waterborne indicates a need to identify the relevant factors and establish the relationship between environmental and human health in terms of hazard assessment. PMID:10620528

  18. Cochlin in the eye: functional implications

    PubMed Central

    Picciani, Renata; Desai, Kavita; Guduric-Fuchs, Jasenka; Cogliati, Tiziana; Morton, Cynthia C.; Bhattacharya, Sanjoy K.

    2007-01-01

    Aqueous humor is actively produced in the ciliary epithelium of the anterior chamber and has important functions for the eye. Under normal physiological conditions, the inflow and outflow of the aqueous humor are tightly regulated, but in the pathologic state this balance is lost. Aqueous outflow involves structures of the anterior chamber and experiences most resistance at the level of the trabecular meshwork (TM) that acts as a filter. The modulation of the TM structure regulates the filter and its mechanism remains poorly understood. Proteomic analyses have identified cochlin, a protein of poorly understood function, in the glaucomatous TM but not in healthy control TM from human cadaver eyes. The presence of cochlin has subsequently been confirmed by Western and immunohistochemical analyses. Functionally, cochlin undergoes multimerization induced by shear stress and other changes in the microenvironment. Cochlin along with mucopolysaccharide deposits have been found in the TM of glaucoma patients and in the inner ear of subjects affected by the hearing disorder DNFA9, a late onset, progressive disease that also involves alterations in fluid shear regimes. In vitro, cochlin induces aggregation of primary TM cells suggesting a role in cell adhesion, possibly in mechanosensation, and in modulation of the TM filter. PMID:17662637

  19. Rethinking dry eye disease: a perspective on clinical implications.

    PubMed

    Bron, Anthony J; Tomlinson, Alan; Foulks, Gary N; Pepose, Jay S; Baudouin, Christophe; Geerling, Gerd; Nichols, Kelly K; Lemp, Michael A

    2014-04-01

    Publication of the DEWS report in 2007 established the state of the science of dry eye disease (DED). Since that time, new evidence suggests that a rethinking of traditional concepts of dry eye disease is in order. Specifically, new evidence on the epidemiology of the disease, as well as strategies for diagnosis, have changed the understanding of DED, which is a heterogeneous disease associated with considerable variability in presentation. These advances, along with implications for clinical care, are summarized herein. The most widely used signs of DED are poorly correlated with each other and with symptoms. While symptoms are thought to be characteristic of DED, recent studies have shown that less than 60% of subjects with other objective evidence of DED are symptomatic. Thus the use of symptoms alone in diagnosis will likely result in missing a significant percentage of DED patients, particularly with early/mild disease. This could have considerable impact in patients undergoing cataract or refractive surgery as patients with DED have less than optimal visual results. The most widely used objective signs for diagnosing DED all show greater variability between eyes and in the same eye over time compared with normal subjects. This variability is thought to be a manifestation of tear film instability which results in rapid breakup of the tearfilm between blinks and is an identifier of patients with DED. This feature emphasizes the bilateral nature of the disease in most subjects not suffering from unilateral lid or other unilateral destabilizing surface disorders. Instability of the composition of the tears also occurs in dry eye disease and shows the same variance between eyes. Finally, elevated tear osmolarity has been reported to be a global marker (present in both subtypes of the disease- aqueous-deficient dry eye and evaporative dry eye). Clinically, osmolarity has been shown to be the best single metric for diagnosis of DED and is directly related to

  20. Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation.

    PubMed Central

    King, M D; Dudgeon, J; Stephenson, J B

    1984-01-01

    Five children with features of Joubert's syndrome and Leber's amaurosis are described. The presenting symptoms were panting tachypnoea in the newborn, prolonged apnoeic attacks in the neonatal period (in both of identical twins), global developmental delay, and failure to develop vision. Three children had multiple hemifacial spasms, such as have been seen in Joubert's syndrome, and the same three had cystic dysplasia of the kidneys. Necropsy confirmed the retinal and renal pathology, together with agenesis of the vermis and brainstem dysgenesis in the identical twins. It is concluded that a gene for Leber's amaurosis may commonly manifest itself as the specific hind brain malformation underlying Joubert's syndrome. In infants with respiratory irregularities (especially rapid panting), hemifacial spasms, or developmental delay, absence of the cerebellar vermis should be specifically sought by ultrasound and computed tomography, and the electroretinogram measured, whether or not impaired vision is clinically evident. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 Fig. 6 Fig. 7 PMID:6476867

  1. Mutations in α- and β-tubulin encoding genes: implications in brain malformations.

    PubMed

    Romaniello, Romina; Arrigoni, Filippo; Bassi, Maria Teresa; Borgatti, Renato

    2015-03-01

    The tubulin gene family is mainly expressed in post-mitotic neurons during cortical development with a specific spatial and temporal expression pattern. Members of this family encode dimeric proteins consisting of two closely related subunits (α and β), representing the major constituents of microtubules. Tubulin genes play a crucial role in the mechanisms of the Central Nervous System development such as neuronal migration and axonal guidance (axon outgrowth and maintenance). Different mutations in α/β-tubulin genes (TUBA1A, TUBA8, TUBB2A, TUBB4A, TUBB2B, TUBB3, and TUBB) might alter the dynamic properties and functions of microtubules in several ways, effecting a reduction in the number of functional tubulin heterodimers and causing alterations in GTP binding and disruptions of the binding of other proteins to microtubules (motor proteins and other microtubule interacting proteins). In recent years an increasing number of brain malformations has been associated with mutations in tubulin genes: malformations of cortical development such as lissencephaly and various grades of gyral disorganization, focal or diffuse polymicrogyria and open or closed-lips schizencephaly as likely consequences of an altered neuronal migration process; abnormalities or agenesis of the midline commissural structures (anterior commissure, corpus callosum and fornix), hypoplasia of the oculomotor and optic nerves, dysmorphisms of the hind-brain as expression of axon guidance disorders. Dysmorphisms of the basal ganglia (fusion between the caudate nucleus and putamen with absence of the anterior limb of the internal capsule) and hippocampi were also observed. A rare form of leukoencephalopathy characterized by hypomyelination with atrophy of the basal ganglia an cerebellum (H-ABC) was also recently described. The present review, describing the structural and functional features of tubulin genes, aims to revise the main cerebral associated malformations and related clinical aspects

  2. Amphibian malformations

    USGS Publications Warehouse

    National Wildlife Health Center

    1998-01-01

    Frog malformations have been reported from 42 states. The broad geographic distribution of these malformations warrants national attention. Scientists at the USGS National Wildlife Health Center in Madison, Wisconsin are studying this problem in an effort to document its scope and to determine the causes of the observed malformations.

  3. Imaging of Spontaneous Ventriculomegaly and Vascular Malformations in Wistar rats: implications for Preclinical Research

    PubMed Central

    Tu, Tsang-Wei; Turtzo, L. Christine; Williams, Rashida A.; Lescher, Jacob D.; Dean, Dana D.; Frank, Joseph A.

    2014-01-01

    Wistar rats are widely used in biomedical research and commonly serve as a model organism in neuroscience studies. In most cases when noninvasive imaging is not utilized, studies assume a consistent baseline condition in rats that lack visible differences. While performing a series of traumatic brain injury studies, we discovered mild spontaneous ventriculomegaly in 70/162 (43.2%) of Wistar rats that had been obtained from 2 different vendors. Advanced magnetic resonance (MR) imaging techniques, including MR angiography and diffusion tensor imaging, were utilized to evaluate the rats. Multiple neuropathologic abnormalities, including presumed arteriovenous malformations, aneurysms, cysts, white matter lesion and astrogliosis were found in association with ventriculomegaly. Postmortem micro-CT and immunohistochemical staining confirmed the presence of aneurysms and arteriovenous malformations. Diffusion tensor imaging significant decreases in fractional anisotropy and increases in mean diffusivity, axial diffusivity, and radial diffusivity in multiple white matter tracts (p < 0.05). These results could impact the interpretation, e.g. of a pseudo-increase of axon integrity and a pseudo-decrease of myelin integrity, based on characteristics intrinsic to rats with ventriculomegaly. We suggest the use of baseline imaging to prevent the inadvertent introduction of a high degree of variability in preclinical studies of neurological disease or injury in the Wistar rats. PMID:25383642

  4. Molecular Implications of the PPARs in the Diabetic Eye

    PubMed Central

    Ciudin, Andreea; Hernández, Cristina; Simó, Rafael

    2013-01-01

    Diabetic retinopathy (DR) remains as the leading cause of blindness among working age individuals in developed countries. Current treatments for DR (laser photocoagulation, intravitreal corticosteroids, intravitreal anti-VEGF agents, and vitreoretinal surgery) are applicable only at advanced stages of the disease and are associated with significant adverse effects. Therefore, new pharmacological treatments for the early stages of the disease are needed. Emerging evidence indicates that peroxisome proliferator-activator receptors (PPARs) agonists (in particular PPARα) are useful for the treatment of DR. However, the underlying molecular mechanisms are far from being elucidated. This paper mainly focuses on PPARs expression in the diabetic eye, its molecular implications, and the effect of PPAR agonists as a new approach for the treatment of DR. The availability of this new strategy will not only be beneficial in treating DR but may also result in a shift towards treating earlier stages of diabetic retinopathy, thus easing the burden of this devastating disease (Cheung et al. (2010)). PMID:23431285

  5. Chiari Malformation

    MedlinePlus

    Chiari malformations (CMs) are structural defects in the cerebellum. The cerebellum is the part of the brain that controls balance. With CM, brain tissue extends into the spinal canal. It can happen when part of the skull is too ...

  6. Arteriovenous Malformation

    MedlinePlus

    ... to the formation of brain AVMs. NIH Patient Recruitment for Arteriovenous Malformation Clinical Trials At NIH Clinical Center Throughout the U.S. and Worldwide NINDS Clinical Trials Organizations Column1 Column2 Brain Aneurysm Foundation 269 Hanover Street, ...

  7. Brain Malformations

    MedlinePlus

    Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it ... medicines, infections, or radiation during pregnancy interferes with brain development. Parts of the brain may be missing, ...

  8. Autophagy in the Eye: Implications for Ocular Cell Health

    PubMed Central

    Frost, Laura S.; Mitchell, Claire H.; Boesze-Battaglia, Kathleen

    2014-01-01

    Autophagy, a catabolic process by which a cell “eats” itself, turning over its own cellular constituents, plays a key role in cellular homeostasis. In an effort to maintain normal cellular function, autophagy is often up-regulated in response to environmental stresses and excessive organelle damage to facilitate aggregated protein removal. In the eye, virtually all cell types from those comprising the cornea in the front of the eye to the retinal pigment epithelium (RPE) providing a protective barrier for the retina at the back of the eye, rely on one or more aspects of autophagy to maintain structure and/or normal physiological function. In the lens autophagy plays a critical role in lens fiber cell maturation and the formation of the organelle free zone. Numerous studies delineating the role of Atg5, Vsp34 as well as FYCO1 in maintenance of lens transparency are discussed. Corneal endothelial dystrophies are also characterized as having elevated levels of autophagic proteins. Therefore, novel modulators of autophagy such as lithium and melatonin are proposed as new therapeutic strategies for this group of dystrophies. In addition, we summarize how corneal Herpes Simplex Virus (HSV-1) infection subverts the cornea’s response to infection by inhibiting the normal autophagic response. Using glaucoma models we analyze the relative contribution of autophagy to cell death and cell survival. The cytoprotective role of autophagy is further discussed in an analysis of photoreceptor cell heath and function. We focus our analysis on the current understanding of autophagy in photoreceptor and RPE health, specifically on the diverse role of autophagy in rods and cones as well as its protective role in light induced degeneration. Lastly, in the RPE we highlight hybrid phagocytosis-autophagy pathways. This comprehensive review allows us to speculate on how alterations in various stages of autophagy contribute to glaucoma and retinal degenerations. PMID:24810222

  9. Lipid peroxidation: pathophysiological and pharmacological implications in the eye.

    PubMed

    Njie-Mbye, Ya Fatou; Kulkarni-Chitnis, Madhura; Opere, Catherine A; Barrett, Aaron; Ohia, Sunny E

    2013-01-01

    Oxygen-derived free radicals such as hydroxyl and hydroperoxyl species have been shown to oxidize phospholipids and other membrane lipid components leading to lipid peroxidation. In the eye, lipid peroxidation has been reported to play an important role in degenerative ocular diseases (age-related macular degeneration, cataract, glaucoma, diabetic retinopathy). Indeed, ocular tissues are prone to damage from reactive oxygen species due to stress from constant exposure of the eye to sunlight, atmospheric oxygen and environmental chemicals. Furthermore, free radical catalyzed peroxidation of long chain polyunsaturated acids (LCPUFAs) such as arachidonic acid and docosahexaenoic acid leads to generation of LCPUFA metabolites including isoprostanes and neuroprostanes that may further exert pharmacological/toxicological actions in ocular tissues. Evidence from literature supports the presence of endogenous defense mechanisms against reactive oxygen species in the eye, thereby presenting new avenues for the prevention and treatment of ocular degeneration. Hydrogen peroxide (H2O2) and synthetic peroxides can exert pharmacological and toxicological effects on tissues of the anterior uvea of several mammalian species. There is evidence suggesting that the retina, especially retinal ganglion cells can exhibit unique characteristics of antioxidant defense mechanisms. In the posterior segment of the eye, H2O2 and synthetic peroxides produce an inhibitory action on glutamate release (using [(3)H]-D-aspartate as a marker), in vitro and on the endogenous glutamate and glycine concentrations in vivo. In addition to peroxides, isoprostanes can elicit both excitatory and inhibitory effects on norepinephrine (NE) release from sympathetic nerves in isolated mammalian iris ciliary bodies. Whereas isoprostanes attenuate dopamine release from mammalian neural retina, in vitro, these novel arachidonic acid metabolites exhibit a biphasic regulatory effect on glutamate release from retina

  10. Lipid peroxidation: pathophysiological and pharmacological implications in the eye

    PubMed Central

    Njie-Mbye, Ya Fatou; Kulkarni-Chitnis, Madhura; Opere, Catherine A.; Barrett, Aaron; Ohia, Sunny E.

    2013-01-01

    Oxygen-derived free radicals such as hydroxyl and hydroperoxyl species have been shown to oxidize phospholipids and other membrane lipid components leading to lipid peroxidation. In the eye, lipid peroxidation has been reported to play an important role in degenerative ocular diseases (age-related macular degeneration, cataract, glaucoma, diabetic retinopathy). Indeed, ocular tissues are prone to damage from reactive oxygen species due to stress from constant exposure of the eye to sunlight, atmospheric oxygen and environmental chemicals. Furthermore, free radical catalyzed peroxidation of long chain polyunsaturated acids (LCPUFAs) such as arachidonic acid and docosahexaenoic acid leads to generation of LCPUFA metabolites including isoprostanes and neuroprostanes that may further exert pharmacological/toxicological actions in ocular tissues. Evidence from literature supports the presence of endogenous defense mechanisms against reactive oxygen species in the eye, thereby presenting new avenues for the prevention and treatment of ocular degeneration. Hydrogen peroxide (H2O2) and synthetic peroxides can exert pharmacological and toxicological effects on tissues of the anterior uvea of several mammalian species. There is evidence suggesting that the retina, especially retinal ganglion cells can exhibit unique characteristics of antioxidant defense mechanisms. In the posterior segment of the eye, H2O2 and synthetic peroxides produce an inhibitory action on glutamate release (using [3H]-D-aspartate as a marker), in vitro and on the endogenous glutamate and glycine concentrations in vivo. In addition to peroxides, isoprostanes can elicit both excitatory and inhibitory effects on norepinephrine (NE) release from sympathetic nerves in isolated mammalian iris ciliary bodies. Whereas isoprostanes attenuate dopamine release from mammalian neural retina, in vitro, these novel arachidonic acid metabolites exhibit a biphasic regulatory effect on glutamate release from retina and

  11. Systemic to pulmonary vascular malformation.

    PubMed

    Pouwels, H M; Janevski, B K; Penn, O C; Sie, H T; ten Velde, G P

    1992-11-01

    A case is reported of life-threatening haemoptysis as a result of an anomalous communication between a bronchial artery and pulmonary vein, demonstrated by angiography. The patient recovered following bilobectomy of the right lower and middle lobes. When a systemic artery is involved in an arteriovenous malformation of the lung, haemodynamics are different compared with those present in malformations fed by the pulmonary artery. This implicates other clinical features, options for surgical intervention and prognosis. In reviewing the literature, a relationship with Rendu-Osler-Weber disease is absent in these specific malformations. PMID:1486979

  12. Visual Fixation in Chiari Type II Malformation

    PubMed Central

    Salman, Michael S.; Sharpe, James A.; Lillakas, Linda; Dennis, Maureen; Steinbach, Martin J.

    2011-01-01

    Chiari type II malformation is a congenital deformity of the hindbrain. Square wave jerks are horizontal involuntary saccades that interrupt fixation. Cerebellar disorders may be associated with frequent square wave jerks or saccadic oscillations such as ocular flutter. The effects of Chiari type II malformation on visual fixation are unknown. We recorded eye movements using an eye tracker in 21 participants with Chiari type II malformation, aged 8 to 19 years while they fixated a target for 1 minute. Thirty-eight age-matched healthy participants served as controls. Square wave jerks’ parameters were similar in the 2 groups. Saccadic oscillations were not seen. Chiari type II malformation is not associated with pathological square wave jerks or abnormal saccadic oscillations. The congenital nature of this deformity may permit compensation that preserves stable visual fixation. Alternatively, the deformity of Chiari type II malformation may spare parts of the cerebellum that usually cause fixation instability when damaged. PMID:19182152

  13. Effect of bilateral eye movements on frontal interhemispheric gamma EEG coherence: implications for EMDR therapy.

    PubMed

    Propper, Ruth E; Pierce, Jenna; Geisler, Mark W; Christman, Stephen D; Bellorado, Nathan

    2007-09-01

    The use of bilateral eye movements (EMs) is an important component of Eye Movement Desensitization and Reprocessing (EMDR) therapy for posttraumatic stress disorder. The neural mechanisms underlying EMDR remain unclear. However, prior behavioral work looking at the effects of bilateral EMs on the retrieval of episodic memories suggests that the EMs enhance interhemispheric interaction. The present study examined the effects of the EMs used in EMDR on interhemispheric electroencephalogram coherence. Relative to noneye-movement controls, engaging in bilateral EMs led to decreased interhemispheric gamma electroencephalogram coherence. Implications for future work on EMDR and episodic memory are discussed. PMID:17984782

  14. Neuro-ophthalmology of type 1 Chiari malformation

    PubMed Central

    Shaikh, Aasef G.; Ghasia, Fatema F.

    2016-01-01

    Chiari malformation is a congenital deformity leading to herniation of cerebellar tonsils. Headache is a typical symptom of this condition, but patients with Chiari malformation often present with double vision and vertigo. Examination of eye movements in such patients often reveals nystagmus and strabismus. Eye movement deficits in the context of typical symptomatic presentation are critical clinical markers for the diagnosis of Chiari malformation. We will review eye movement deficits that seen in patients with type 1 Chiari malformation. We will then discuss the underlying pathophysiology and therapeutic options for such deficits. PMID:26843890

  15. Chiari Malformation

    MedlinePlus

    ... Ones & When? Smart School Lunches Emmy-Nominated Video "Cerebral Palsy: Shannon's Story" 5 Things to Know About Zika & ... spine that can lead to nerve damage or paralysis. Chiari malformations also can happen after brain or spinal surgery. Doctors haven't identified a ...

  16. The primary vascular dysregulation syndrome: implications for eye diseases

    PubMed Central

    2013-01-01

    Vascular dysregulation refers to the regulation of blood flow that is not adapted to the needs of the respective tissue. We distinguish primary vascular dysregulation (PVD, formerly called vasospastic syndrome) and secondary vascular dysregulation (SVD). Subjects with PVD tend to have cold extremities, low blood pressure, reduced feeling of thirst, altered drug sensitivity, increased pain sensitivity, prolonged sleep onset time, altered gene expression in the lymphocytes, signs of oxidative stress, slightly increased endothelin-1 plasma level, low body mass index and often diffuse and fluctuating visual field defects. Coldness, emotional or mechanical stress and starving can provoke symptoms. Virtually all organs, particularly the eye, can be involved. In subjects with PVD, retinal vessels are stiffer and more irregular, and both neurovascular coupling and autoregulation capacity are reduced while retinal venous pressure is often increased. Subjects with PVD have increased risk for normal-tension glaucoma, optic nerve compartment syndrome, central serous choroidopathy, Susac syndrome, retinal artery and vein occlusions and anterior ischaemic neuropathy without atherosclerosis. Further characteristics are their weaker blood–brain and blood-retinal barriers and the higher prevalence of optic disc haemorrhages and activated astrocytes. Subjects with PVD tend to suffer more often from tinnitus, muscle cramps, migraine with aura and silent myocardial ischaemic and are at greater risk for altitude sickness. While the main cause of vascular dysregulation is vascular endotheliopathy, dysfunction of the autonomic nervous system is also involved. In contrast, SVD occurs in the context of other diseases such as multiple sclerosis, retrobulbar neuritis, rheumatoid arthritis, fibromyalgia and giant cell arteritis. Taking into consideration the high prevalence of PVD in the population and potentially linked pathologies, in the current article, the authors provide

  17. Carbon monoxide and the eye: Implications for glaucoma therapy.

    PubMed

    Bucolo, Claudio; Drago, Filippo

    2011-05-01

    In the late 1990s, the scientific community witnessed a very peculiar phenomenon: the transformation of nitric oxide (NO) from a noxious gas into a key chemical messenger. The importance of NO in biology and medicine was highlighted in 1998 when the Nobel Prize was awarded in Physiology and Medicine to Robert Furchgott, Louis Ignarro and Ferid Murad for their pioneering work on the role of NO in the nervous, cardiovascular and immune systems. In this same time period, carbon monoxide (CO), another gas usually associated with environmental pollution, air poisoning and suicidal behavior, was also undergoing a similar change in image, although not as closely followed. It had been known for several decades that the human body generated CO upon the decomposition of hemoglobin, which was determined by the discovery that heme oxygenase (HO) is the enzymatic source of CO. However, CO's role as an endogenous neurotransmitter was established only in the early 1990s. Since then, many biological activities of CO have been demonstrated in studies using different tools, such as the pharmacological induction of HO by hemin, the direct administration of CO or the use of pro-drugs that generate CO. This review focuses on CO as a fine modulator of intraocular pressure and on its potential implications in glaucoma. PMID:21295073

  18. Etiologies of uterine malformations.

    PubMed

    Jacquinet, Adeline; Millar, Debra; Lehman, Anna

    2016-08-01

    Ranging from aplastic uterus (including Mayer-Rokitansky-Kuster-Hauser syndrome) to incomplete septate uterus, uterine malformations as a group are relatively frequent in the general population. Specific causes remain largely unknown. Although most occurrences ostensibly seem sporadic, familial recurrences have been observed, which strongly implicate genetic factors. Through the study of animal models, human syndromes, and structural chromosomal variation, several candidate genes have been proposed and subsequently tested with targeted methods in series of individuals with isolated, non-isolated, or syndromic uterine malformations. To date, a few genes have garnered strong evidence of causality, mainly in syndromic presentations (HNF1B, WNT4, WNT7A, HOXA13). Sequencing of candidate genes in series of individuals with isolated uterine abnormalities has been able to suggest an association for several genes, but confirmation of a strong causative effect is still lacking for the majority of them. We review the current state of knowledge about the developmental origins of uterine malformations, with a focus on the genetic variants that have been implicated or associated with these conditions in humans, and we discuss potential reasons for the high rate of negative results. The evidence for various environmental and epigenetic factors is also reviewed. © 2016 Wiley Periodicals, Inc. PMID:27273803

  19. Anorectal malformations

    PubMed Central

    Gangopadhyay, Ajay Narayan; Pandey, Vaibhav

    2015-01-01

    Anorectal malformations (ARMs) are among the more frequent congenital anomalies encountered in paediatric surgery, with an estimated incidence ranging between 1 in 2000 and 1 in 5000 live births. Antenatal diagnosis of an isolated ARM is rare. Most cases are diagnosed in the early neonatal period. There is a wide spectrum of presentation ranging from low anomalies with perineal fistula having simple management to high anomalies with complex management. Advances in the imaging techniques with improvement in knowledge of the embryology, anatomy and physiology of ARM cases have refined diagnosis and initial management. There has been marked improvement in survival of such patient over the last century. The management of ARM has moved forward from classical procedures to PSARP to minimal invasive procedures. But still the fecal and urinary incontinence can occur even with an excellent anatomic repair, mainly due to associated problems. There has been a paradigm shift in approach to these patients which involves holistic approach to the syndrome of Anorectal malformations with a long term goal of achievement of complete fecal and urinary continence with excellent quality of life. PMID:25552824

  20. Venous malformations of the anterior abdominal wall in blue rubber bleb naevus syndrome: implications for antenatal and intrapartum management

    PubMed Central

    Cauldwell, Matthew; Kyle, Pippa; Treharne, Ian; Wong, Terry; Holden, Simon T; Nelson-Piercy, Catherine

    2011-01-01

    Blue rubber bleb naevus syndrome (BRBNS) is a rare vascular disorder characterized by rubbery blue–purple cutaneous nodules that are histologically thin-walled dilated vascular spaces. The exact inheritance of the disease in unknown but in cases of familial recurrence, there appears to be a pattern of autosomal dominant inheritance. The vascular lesions may manifest in any organ system but tend to predominate in the gastrointestinal tract (GI). There are only a handful of cases reported in the literature, but reported complications arising from the naevi include sponatenous GI bleeding requiring laparotomy and blood transfusion and the development of large naevi in the cervix thus preventing vaginal delivery. In this case we describe a patient with known BRBNS who developed symptomatic anaemia during her pregnancy which required antenatal admission and blood transfusion. She was managed expectantly in a multidisciplinary setting by obstetricians, gastroenterologists and an obstetric physician with the aim of a vaginal delivery. Nevertheless, she had an elective caesarean section at term for breech presentation. Surgery was complicated by the unexpected finding of venous malformations within the abdominal wall musculature and subcutaneous fat that resulted in a primary haemorrhage and required urgent blood transfusion. The patient made a good postoperative recovery and had a healthy male infant who at birth displayed no external features of BRBNS. This report demonstrates for the first time the appearance of naevi in the abdominal wall and the important considerations that need to be made regarding mode of delivery and future pregnancies.

  1. The etiology of congenital cardiovascular malformations: observations on genetic risks with implications for further birth defects research.

    PubMed

    Ferencz, C

    1985-01-01

    The previously reported hypothesis of an etiologic association of heart and blood abnormalities was further investigated in a population based study of congenital cardiovascular malformations (CCVM). Three presumed genetic risk factors (CCVM in parents and siblings, heritable blood disorders and maternal mitral valve prolapse) were found to occur significantly more often in cases than in normal controls, irrespective of the presence in the proband of chromosomal or Mendelian lesions. This suggests a specific etiologic origin of the CCVM; the excess of maternal risk components raises the possibility of X-linked inheritance. Observed constellations of heart, blood, and connective tissue disorders within members of a nuclear family may indicate variability of phenotypic expression of a similar biosynthetic defect. A schematic model of abnormal cardiogenesis is presented which supports the above observations with the results of biochemical studies on endothelium, platelets and collagen disorders. It is suggested that teratogenesis results from subtle interactions of genetic sequelae with extrinsic metabolic and xenobiotic effects. This conclusion harmonizes with those derived from experimental animal studies. PMID:2937867

  2. Deposit buildup on prosthetic eyes and implications for conjunctival inflammation and mucoid discharge

    PubMed Central

    Pine, Keith Raymond; Sloan, Brian; Jacobs, Robert John

    2012-01-01

    Background The aim of this study was to investigate deposit buildup on prosthetic eyes and the implications for conjunctival inflammation and discharge. Methods Forty-three prosthetic eye wearers participated in the study. Twenty-three had their prostheses polished normally before being worn continuously for 2 weeks. After this time, surface deposits were stained, photographed, and graded. The prostheses were then repolished to optical quality contact lens standard and worn for a further 2 weeks, when the deposits were again stained, photographed, and graded. Two participants had deposits on their prostheses stained, photographed, and graded on nine occasions at decreasing intervals ranging from 1 year to 1 day. Eighteen participants had the wetting angles on their prostheses measured with a goniometer before and after cleaning, after polishing normally, after polishing to optical quality contact lens standard, and after 10 minutes of wearing their optical quality contact lens polished prostheses. Concordance correlation, multiple regression, and paired t-tests were used for the statistical analysis. Results More surface deposits accumulated on prostheses polished normally than on those polished to an optical quality contact lens standard after 2 weeks of wear. The interpalpebral zone of most prostheses (observed without magnification) appeared to be clear of deposits. Removal of deposits significantly decreased surface wettability, but wettability returned after 10 minutes of wear. Optical quality contact lens polishing produced more wettable surfaces and a slower rate of deposit accumulation than normal polishing. Conclusion We recommend that an optical quality contact lens standard be the minimum standard of finish for prosthetic eyes. This standard may assist the smooth action of the lids over the interpalpebral zone of the prosthesis and the cleansing action of tears. The presence of deposits in the retropalpebral zone may improve the lubricating properties of

  3. Mimosa tenuiflora as a Cause of Malformations in Ruminants in the Northeastern Brazilian Semiarid Rangelands

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Craniofacial anomalies, eye malformations, and permanent flexures of the forelimbs are common malformations seen in ruminants grazing semiarid rangelands of Northeastern Brazil. To investigate the cause of these malformations, we fed 2 suspected plants, Mimosa tenuiflora or Prosopis juliflora, to gr...

  4. Evolutionary origin of cardiac malformations.

    PubMed

    Taussig, H B

    1988-10-01

    The author has proposed in previous publications that isolated cardiac malformations have an evolutionary origin. This is partly supported by the fact that isolated cardiac malformations found in humans occur also in other placental mammals as well as in birds. External gross examination of the heart in just over 5,000 birds was carried out during a 3 year period. Anomalies included one instance of duplicate hearts, two specimens in which no heart could be identified and in a fourth, a yellow-rumped warbler, the heart lay in the neck outside of the thoracic cavity. Published reports of similar occurrences of an ectopically placed heart concern birds, cattle and humans. The fact that various species of both placental mammals and birds show evidence of heritability for heart defects, and that these species cannot interbreed, combined with the fact that birds and mammals have many similar malformations, points to either a common external causative factor or a common origin. Genes that code the malformed heart must be transmitted with that part of the genetic makeup common to all birds and mammals. Malformations caused by teratogens produce widespread organ injury to a potentially normal embryo whereas the evolutionary malformation is an organ-specific anomaly in an otherwise normal mammal or bird and occurs in widely separated species. The implications of this theory are important for parents of children with an isolated congenital heart defect who may have ingested one or another drug or chemical or have been exposed to toxins or infectious agents before or after conception of the affected offspring. PMID:3047192

  5. Stratified Whole Genome Linkage Analysis of Chiari Type I Malformation Implicates Known Klippel-Feil Syndrome Genes as Putative Disease Candidates

    PubMed Central

    Markunas, Christina A.; Soldano, Karen; Dunlap, Kaitlyn; Cope, Heidi; Asiimwe, Edgar; Stajich, Jeffrey; Enterline, David; Grant, Gerald; Fuchs, Herbert

    2013-01-01

    Chiari Type I Malformation (CMI) is characterized by displacement of the cerebellar tonsils below the base of the skull, resulting in significant neurologic morbidity. Although multiple lines of evidence support a genetic contribution to disease, no genes have been identified. We therefore conducted the largest whole genome linkage screen to date using 367 individuals from 66 families with at least two individuals presenting with nonsyndromic CMI with or without syringomyelia. Initial findings across all 66 families showed minimal evidence for linkage due to suspected genetic heterogeneity. In order to improve power to localize susceptibility genes, stratified linkage analyses were performed using clinical criteria to differentiate families based on etiologic factors. Families were stratified on the presence or absence of clinical features associated with connective tissue disorders (CTDs) since CMI and CTDs frequently co-occur and it has been proposed that CMI patients with CTDs represent a distinct class of patients with a different underlying disease mechanism. Stratified linkage analyses resulted in a marked increase in evidence of linkage to multiple genomic regions consistent with reduced genetic heterogeneity. Of particular interest were two regions (Chr8, Max LOD = 3.04; Chr12, Max LOD = 2.09) identified within the subset of “CTD-negative” families, both of which harbor growth differentiation factors (GDF6, GDF3) implicated in the development of Klippel-Feil syndrome (KFS). Interestingly, roughly 3–5% of CMI patients are diagnosed with KFS. In order to investigate the possibility that CMI and KFS are allelic, GDF3 and GDF6 were sequenced leading to the identification of a previously known KFS missense mutation and potential regulatory variants in GDF6. This study has demonstrated the value of reducing genetic heterogeneity by clinical stratification implicating several convincing biological candidates and further supporting the hypothesis that

  6. Genetic animal models of malformations of cortical development and epilepsy.

    PubMed

    Wong, Michael; Roper, Steven N

    2016-02-15

    Malformations of cortical development constitute a variety of pathological brain abnormalities that commonly cause severe, medically-refractory epilepsy, including focal lesions, such as focal cortical dysplasia, heterotopias, and tubers of tuberous sclerosis complex, and diffuse malformations, such as lissencephaly. Although some cortical malformations result from environmental insults during cortical development in utero, genetic factors are increasingly recognized as primary pathogenic factors across the entire spectrum of malformations. Genes implicated in causing different cortical malformations are involved in a variety of physiological functions, but many are focused on regulation of cell proliferation, differentiation, and neuronal migration. Advances in molecular genetic methods have allowed the engineering of increasingly sophisticated animal models of cortical malformations and associated epilepsy. These animal models have identified some common mechanistic themes shared by a number of different cortical malformations, but also revealed the diversity and complexity of cellular and molecular mechanisms that lead to the development of the pathological lesions and resulting epileptogenesis. PMID:25911067

  7. Toward postnatal reversal of ocular congenital malformations

    PubMed Central

    Sahel, José-Alain; Marazova, Katia

    2013-01-01

    Aniridia is a panocular disorder that severely affects vision in early life. Most cases are caused by dominantly inherited mutations or deletions of the PAX6 gene, which encodes a transcription factor that is essential for the development of the eye and the central nervous system. In this issue of the JCI, Gregory-Evans and colleagues demonstrate that early postnatal topical administration of an ataluren-based formulation reverses congenital malformations in the postnatal mouse eye, providing evidence that manipulation of PAX6 after birth may lead to corrective tissue remodeling. These findings offer hope that ataluren administration could be a therapeutic paradigm applicable to some major congenital eye defects. PMID:24355915

  8. Intraoral venous malformation with phleboliths

    PubMed Central

    Mohan, Ravi Prakash S.; Dhillon, Manu; Gill, Navneet

    2011-01-01

    The most common type of vascular malformation is the venous malformation and these are occasionally associated with phleboliths. We report a case of a 45 year old woman with intraoral venous malformation with phleboliths. PMID:24151422

  9. Dynamic Assessment of Binocular Eye Movement Coordination: Norms and Functional Implications

    PubMed Central

    Viirre, Erik

    2014-01-01

    Alignment of the two eyes is controlled by a finely tuned, fast acting system with components within the brain. Assessment of binocular alignment has classically been done statically. Eye positions are assessed in primary position and at eccentric angles to interpret the functional status of the oculomotor nerves and muscles. However, assessment of dynamic eye alignment, the coordination of the eyes during eye movements, has been less commonly carried out and has not been formalized with population norms. Clinicians are aware of slow eye movement dynamic alignment changes, such as that clinically observed in Intranuclear Ophthalmoplegia. But assessment of eye alignment during rapid eye movements, such as saccade or pursuit has not been part of neuro-ophthalmologic assessment. With the advent of inexpensive, high resolution recording systems, both eyes can be simultaneously recorded and their coordination during movement compared. Thus, we now have an opportunity to provide a laboratory based objective measurement of a gamut of binocular coordination systems. Recent research in humans has demonstrated increased variability of binocular coordination during divided attention. Variability is an interesting statistic that can be sensitively assessed in the velocity domain without extensive gaze position recalibration procedures during recording over long intervals. Variability can thus be used as a robust, long-term eye movement parameter with minimal intrusiveness to the subject. It is proposed that population studies of binocular coordination during eye movements be carried out to determine neurologic norms so that conditions such as brain injury and others can be assessed with a functional tool with objective parameters. PMID:24804278

  10. Inconsistent findings for the eyes closed effect in children: the implications for interviewing child witnesses.

    PubMed

    Kyriakidou, Marilena; Blades, Mark; Carroll, Dan

    2014-01-01

    A child who alleges that they have been the victim of a crime will be interviewed by police officers. During a police interview it is important that the interviewer obtains the most accurate testimony possible from the child. Previous studies have shown that if children have their eyes closed during an interview they sometimes report more correct information. This paper includes two studies. In Experiment 1 156 children experienced an event and were then questioned about it. Half the children answered with their eyes open and half with their eyes closed. The participants with eyes closed provided more correct information. In Experiment 2 152 children answered questions in different conditions including eyes open and eyes closed conditions. In contrast to Experiment 1 there was no beneficial effect for the eyes closed condition. These inconsistent results are discussed with reference to actual police interviews. It is suggested that until there has been more research into eyes closed procedures caution should be taken in recommending such procedures for police interviews with children. PMID:24999333

  11. Inconsistent findings for the eyes closed effect in children: the implications for interviewing child witnesses

    PubMed Central

    Kyriakidou, Marilena; Blades, Mark; Carroll, Dan

    2014-01-01

    A child who alleges that they have been the victim of a crime will be interviewed by police officers. During a police interview it is important that the interviewer obtains the most accurate testimony possible from the child. Previous studies have shown that if children have their eyes closed during an interview they sometimes report more correct information. This paper includes two studies. In Experiment 1 156 children experienced an event and were then questioned about it. Half the children answered with their eyes open and half with their eyes closed. The participants with eyes closed provided more correct information. In Experiment 2 152 children answered questions in different conditions including eyes open and eyes closed conditions. In contrast to Experiment 1 there was no beneficial effect for the eyes closed condition. These inconsistent results are discussed with reference to actual police interviews. It is suggested that until there has been more research into eyes closed procedures caution should be taken in recommending such procedures for police interviews with children. PMID:24999333

  12. Implications of the implementation of the revised dose limit to the lens of the eye: the view of IRPA professionals.

    PubMed

    Broughton, J; Cantone, M C; Ginjaume, M; Shah, B; Czarwinski, R

    2015-06-01

    In April 2011, the International Commission on Radiological Protection issued a statement on reduction of the equivalent dose limits for the lens of the eye, and strongly recommended its consideration in the revision of the International Atomic Energy Agency's International Basic Safety Standards on Radiation Protection. The reduced dose limit was incorporated in the final version of the Basic Safety Standards. As significant concern was expressed by radiation protection professionals worldwide, the International Radiation Protection Association (IRPA) established a task group to assess the impact of implementation of the revised dose limit for the lens of the eye for occupational exposure. IRPA Associate Societies (ASs) were asked for their views using a questionnaire addressing three topics: implications for dosimetry, implications for methods of protection, and wider implications. The responses received indicate various methods of approach and express different points of view, reflecting nuances of particular ASs or specific professional groups. Topic experts nominated by ASs were selected to assist with collation of responses, and a report was produced by the task group. Conclusions were drawn on the three issues, including potential cost implications. A number of recommendations were drawn from the responses received including: the request for more understanding about the relationship between exposure of the lens of the eye and cataract formation, and further guidance to assist implementation; the importance of economic and social considerations when introducing the limits into national regulations; the need to propose or define procedures related to employment of people with existing or pre-cataract conditions; and the practical aspects relating to dosimetry and protective equipment. PMID:25816267

  13. Eye and pit size are inversely correlated in crotalinae: Implications for selection pressure relaxation.

    PubMed

    Liu, Yang; Chen, Qin; Papenfuss, Theodore J; Lu, Fang; Tang, Yezhong

    2016-01-01

    Mate, prey, and predator recognition often depend on the integration of information from multiple sensory modalities including visual, auditory, and/or olfactory inputs. In Crotalinae, the eyes sense visible light while the pit organs detect infrared (IR) radiation. Previous studies indicate that there is significant overlap between the eye and pit sensory fields and that both senses are involved in recognition processes. This study investigated the relationships between eye and pit sizes in this taxonomic group as a function of phylogeny and habitat. In view of the fact that pit orientation depends largely on snout shape, pit vipers were grouped as follows: 1) arboreal, 2) terrestrial with rounded snout, and 3) terrestrial with pointed snout. The pit orientations and habitant patterns were fully independent of the Crotalinae phylogenetic tree. The phylogenetic generalized least squares model showed that both eye and pit areas were not of significantly phylogenetic relatedness, implying alternatively a strong effect of adaptation on eye and pit sizes. Negative correlations between relative eye and pit areas in terrestrial (both pointed and rounded snouts) and arboreal species were statistically significant. Our results suggest that the eyes and pits function in a complementary fashion such that selection for IR-perception relaxes selection pressures on the visual system and selection for visual discrimination relaxes selection pressures acting on the IR-system. PMID:26442780

  14. Genetics Home Reference: cerebral cavernous malformation

    MedlinePlus

    ... R, Awad IA, Ginsberg MH. Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity. J Exp Med. 2010 Apr 12;207(4):881-96. doi: 10.1084/jem.20091258. Epub 2010 Mar 22. Citation on ... CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous ...

  15. RNA-binding proteins in eye development and disease: implication of conserved RNA granule components.

    PubMed

    Dash, Soma; Siddam, Archana D; Barnum, Carrie E; Janga, Sarath Chandra; Lachke, Salil A

    2016-07-01

    The molecular biology of metazoan eye development is an area of intense investigation. These efforts have led to the surprising recognition that although insect and vertebrate eyes have dramatically different structures, the orthologs or family members of several conserved transcription and signaling regulators such as Pax6, Six3, Prox1, and Bmp4 are commonly required for their development. In contrast, our understanding of posttranscriptional regulation in eye development and disease, particularly regarding the function of RNA-binding proteins (RBPs), is limited. We examine the present knowledge of RBPs in eye development in the insect model Drosophila as well as several vertebrate models such as fish, frog, chicken, and mouse. Interestingly, of the 42 RBPs that have been investigated for their expression or function in vertebrate eye development, 24 (~60%) are recognized in eukaryotic cells as components of RNA granules such as processing bodies, stress granules, or other specialized ribonucleoprotein (RNP) complexes. We discuss the distinct developmental and cellular events that may necessitate potential RBP/RNA granule-associated RNA regulon models to facilitate posttranscriptional control of gene expression in eye morphogenesis. In support of these hypotheses, three RBPs and RNP/RNA granule components Tdrd7, Caprin2, and Stau2 are linked to ocular developmental defects such as congenital cataract, Peters anomaly, and microphthalmia in human patients or animal models. We conclude by discussing the utility of interdisciplinary approaches such as the bioinformatics tool iSyTE (integrated Systems Tool for Eye gene discovery) to prioritize RBPs for deriving posttranscriptional regulatory networks in eye development and disease. WIREs RNA 2016, 7:527-557. doi: 10.1002/wrna.1355 For further resources related to this article, please visit the WIREs website. PMID:27133484

  16. Cerebellar and Brainstem Malformations.

    PubMed

    Poretti, Andrea; Boltshauser, Eugen; Huisman, Thierry A G M

    2016-08-01

    The frequency and importance of the evaluation of the posterior fossa have increased significantly over the past 20 years owing to advances in neuroimaging. Conventional and advanced neuroimaging techniques allow detailed evaluation of the complex anatomic structures within the posterior fossa. A wide spectrum of cerebellar and brainstem malformations has been shown. Familiarity with the spectrum of cerebellar and brainstem malformations and their well-defined diagnostic criteria is crucial for optimal therapy, an accurate prognosis, and correct genetic counseling. This article discusses cerebellar and brainstem malformations, with emphasis on neuroimaging findings (including diagnostic criteria), neurologic presentation, systemic involvement, prognosis, and recurrence. PMID:27423798

  17. Pediatric neuroanesthesia. Arteriovenous malformations.

    PubMed

    Newfield, P; Hamid, R K

    2001-06-01

    Intracranial arteriovenous malformations can occur singly, multiply, and in conjunction with aneurysms and denovo, family, or in conjunction with connective-tissue disorders. Intracranial hemorrhage is the most common presentation, occurring in 20% to 50% of cases. In children, seizures are the second most common presentation occurring in 15% to 20% of cases. The modalities available treatment of arteriovenous malformations are microsurgery, embolization, and stereotactic radiosurgery with heavy particles, alpha knife, or linear accelerator. Induction, maintenance, and emergence from anesthesia are designed to prevent rupture of arteriovenous malformation and aneurysm and to improve intracranial compliance in the presence of an intracranial hematoma, during both diagnostic (CT, MR scanning) and therapeutic procedures. PMID:11469062

  18. Target modality determines eye-head coordination in nonhuman primates: implications for gaze control

    PubMed Central

    Rajala, Abigail Z.

    2011-01-01

    We have studied eye-head coordination in nonhuman primates with acoustic targets after finding that they are unable to make accurate saccadic eye movements to targets of this type with the head restrained. Three male macaque monkeys with experience in localizing sounds for rewards by pointing their gaze to the perceived location of sources served as subjects. Visual targets were used as controls. The experimental sessions were configured to minimize the chances that the subject would be able to predict the modality of the target as well as its location and time of presentation. The data show that eye and head movements are coordinated differently to generate gaze shifts to acoustic targets. Chiefly, the head invariably started to move before the eye and contributed more to the gaze shift. These differences were more striking for gaze shifts of <20–25° in amplitude, to which the head contributes very little or not at all when the target is visual. Thus acoustic and visual targets trigger gaze shifts with different eye-head coordination. This, coupled to the fact that anatomic evidence involves the superior colliculus as the link between auditory spatial processing and the motor system, suggests that separate signals are likely generated within this midbrain structure. PMID:21795625

  19. Spatial orientation perception and reflexive eye movements--a perspective, an overview, and some clinical implications

    NASA Technical Reports Server (NTRS)

    Guedry, F. E.; Paloski, W. F. (Principal Investigator)

    1996-01-01

    When head motion includes a linear velocity component, eye velocity required to track an earth-fixed target depends upon: a) angular and linear head velocity, b) target distance, and c) direction of gaze relative to the motion trajectory. Recent research indicates that eye movements (LVOR), presumably otolith-mediated, partially compensate for linear velocity in small head excursions on small devices. Canal-mediated eye velocity (AVOR), otolith-mediated eye velocity (LVOR), and Ocular Torsion (OT) can be measured, one by one, on small devices. However, response dynamics that depend upon the ratio of linear to angular velocity in the motion trajectory and on subject orientation relative to the trajectory are present in a centrifuge paradigm. With this paradigm, two 3-min runs yields measures of: LVOR differentially modulated by different subject orientations in the two runs; OT dynamics in four conditions; two directions of "steady-state" OT, and two directions of AVOR. Efficient assessment of the dynamics (and of the underlying central integrative processes) may require a centrifuge radius of 1.0 meters or more. Clinical assessment of the spatial orientation system should include evaluation of central integrative processes that determine the dynamics of these responses.

  20. Compulsive Behavior and Eye Blink in Prader-Willi Syndrome: Neurochemical Implications

    ERIC Educational Resources Information Center

    Holsen, Laura; Thompson, Travis

    2004-01-01

    Compulsive behavior in Prader-Willi syndrome is well-documented, though the neurochemical basis of these behaviors remains unknown. We studied a group of 16 people with Prader-Willi syndrome and a comparison group of 19 people with intellectual disability. Using eye-blink rate as an indirect measure of central nervous system dopamine, we found a…

  1. A Review of Eye Movement Desensitization and Reprocessing (EMDR): Research Findings and Implications for Counsellors.

    ERIC Educational Resources Information Center

    MacCluskie, Kathryn C.

    1998-01-01

    States that within the last six years a new therapeutic technique for the treatment of posttraumatic stress disorder, Eye Movement Desensitization and Reprocessing (EMDR), has emerged. Examines the strengths and weaknesses of published studies concerning EMDR, describes the nature of the debate about the efficacy of EMDR, and reviews implications…

  2. Implications of interrupted eye-head gaze shifts for resettable integrator reset.

    PubMed

    Kardamakis, A A; Moschovakis, A K

    2006-06-30

    The neural circuit responsible for saccadic eye movements is generally thought to resemble a closed loop controller. Several models of the saccadic system assume that the feedback signal of such a controller is an efference copy of "eye displacement", a neural estimate of the distance already travelled by the eyes, provided by the so-called "resettable integrator" (RI). The speed, with which the RI is reset, is thought to be fast or instantaneous by some authors and gradual by others. To examine this issue, psychophysicists have taken advantage of the target-distractor paradigm. Subjects engaged in it, are asked to look to only one of two stimuli (the "target") and not to a distractor presented in the diametrically opposite location and they often generate movement sequences in which a gaze shift towards the "distractor" is followed by a second gaze shift to the "target". The fact that the second movement is not systematically erroneous even when very short time intervals (about 5 ms) separate it from the first movement has been used to question the verisimilitude of gradual RI reset. To explore this matter we used a saccade-generating network that relies on a RI coupled to a head controller and a model of the rotational vestibulo-ocular reflex. An analysis of the activation functions of model units provides disproof by counterexample: "targets" can be accurately acquired even when the RI of the saccadic burst generator is not reset at all after the end of the first, interrupted eye-head gaze shift to the distractor and prior to the second, complete eye-head gaze shift to the "target". PMID:16782506

  3. FTO variant associated with malformation syndrome.

    PubMed

    Rohena, Luis; Lawson, Michelle; Guzman, Edwin; Ganapathi, Mythily; Cho, Megan T; Haverfield, Eden; Anyane-Yeboa, Kwame

    2016-04-01

    Common FTO variants are associated with obesity. However, it has recently been shown that homozygous FTO c.947G>A variant, which predicts p.R316Q, and c.956C>T, which predicts p.S319F, are associated with a malformation syndrome inherited in an autosomal recessive pattern. We present a similar homozygous FTO c.965G>A variant that predicts p.R322Q, associated with a lethal malformation syndrome in a consanguineous Yemeni family. Functional studies showed that the p.R316Q, p.S219F, and p.R322Q variants render the FTO protein inactive. We further expand on the phenotype of homozygous FTO loss-of-function mutations to include eye abnormalities, gingival overgrowth, craniosynostosis, and cutaneous photosensitivity. PMID:26697951

  4. Effect of poverty on eye health and implications for nursing practice.

    PubMed

    Williamson, Swapna; Seewoodhary, Ramesh; Dampies, Lavona

    2016-08-10

    Poverty is a global issue that affects the health and quality of life of millions of people. It predisposes people to many health conditions, including sight loss or blindness as a result of the immune system becoming compromised. Blindness is common in areas of the world where there is extreme poverty. In the UK, poverty has become a major social issue, contributing to many health problems, including eye conditions. These eye conditions can result in sight loss if they are not managed effectively. Psychosocial care is an essential aspect of patient care, because poverty and sight loss are interrelated. Healthcare practitioners have a significant role in the management and prevention of blindness. Blindness caused by poverty is largely preventable, and health promotion is an important strategy in care management. PMID:27507393

  5. Pulmonary vascular malformations.

    PubMed

    Liechty, Kenneth W; Flake, Alan W

    2008-02-01

    Pulmonary vascular malformations have historically been diagnosed in a wide range of age groups, but the extensive use of prenatal imaging studies has resulted in the majority of lesions being diagnosed in utero. Among this group of lesions, bronchopulmonary sequestrations (BPS), hybrid lesions with both congenital cystic adenomatoid malformation (CCAM) and BPS, aberrant systemic vascular anastomoses, and pulmonary arteriovenous malformations (PAVM), are the most common. The biologic behavior of these lesions and the subsequent therapy is, in large part, determined by the age of the patient at diagnosis. In the fetus, large BPS or hybrid lesions can result in fetal hydrops and in utero fetal demise. In the perinatal period, pulmonary hypoplasia from the mass effect or air trapping within the cystic component of hybrid lesions can result in life-threatening respiratory distress. In the postnatal period, communication of the lesion with the aero-digestive system can result in recurrent pneumonia. Alternatively, increased pulmonary blood flow from the systemic arterial supply can result in hemorrhage, hemoptysis, or high output cardiac failure. In addition, there have been several reports of malignant degeneration. Finally, the broad spectrum encompassed by these lesions makes classification and subsequent communication of the lesions confusing and difficult. This paper will review the components of these lesions, their associated anomalies, the diagnosis and natural history, and finally, current concepts in the management of pulmonary vascular malformations. PMID:18158137

  6. The Age-Related Eye Disease Study (AREDS): Design Implications AREDS Report No. 1

    PubMed Central

    2006-01-01

    The Age-Related Eye Disease Study (AREDS) was initially conceived as a long-term multicenter, prospective study of the clinical course of age-related macular degeneration (AMD) and age-related cataract. Data on progression rates and risk factors from the study will increase understanding of the clinical course of both conditions, generate hypotheses about etiology, and aid in the design of clinical trials of potential interventions. In addition to collecting natural history data, AREDS includes a clinical trial of high-dose vitamin and mineral supplements for AMD and a clinical trial of high-dose vitamin supplements for cataract. The clinical trials were initiated largely because of the widespread public use in the United States of commercially available pharmacologic doses of vitamins and minerals to treat these two eye conditions and the absence of definitive studies on the safety and efficacy of their use. Important design issues for the clinical trials include: defining cataract and AMD, estimating event rates, determining the type and dosage of vitamins and minerals to be tested for each condition, and identifying the parameters necessary for monitoring safety and efficacy. This paper describes the AREDS design, including the study rationale and operational structure, and the approach adopted to combine, for two diseases, clinical trials with a natural history study. PMID:10588299

  7. Synergistic interaction between TS-polysaccharide and hyaluronic acid: implications in the formulation of eye drops.

    PubMed

    Uccello-Barretta, Gloria; Nazzi, Samuele; Zambito, Ylenia; Di Colo, Giacomo; Balzano, Federica; Sansò, Marco

    2010-08-16

    An interaction between tamarind seed polysaccharide (TSP) and hyaluronic acid (HA) in aqueous solution has been ascertained. Various TSP/HA mixtures have been studied as the basis for the development of a potential excipient for eye drops synergistically improved over those of the separate polymers. Information about the nature of interpolymer interactions, and their dependence on TSP/HA ratios were obtained by NMR spectroscopy in solution. Superior mucin affinity of TSP/HA mixtures with respect to the single polysaccharides was assessed by NMR proton selective relaxation rate measurements. The mucoadhesivity of the TSP/HA (3/2) mixture, evaluated in vitro by NMR or viscometry, and in vivo by its mean and maximum residence time in rabbit precorneal area, is stronger than that of the component polysaccharides or the TSP/HA mixtures of different composition. TSP/HA (3/2) is little viscous and well tolerated by rabbit eyes. It stabilizes the tear film, thereby prolonging the residence of ketotifen fumarate and diclofenac sodium in tear fluid, but is unable to permeabilize the cornea. In conclusion, mucoadhesivity is responsible for the TSP/HA (3/2) synergistic enhancement of either extra- or intra-ocular drug bioavailability. PMID:20580791

  8. Small step tracking - Implications for the oculomotor 'dead zone'. [eye response failure below threshold target displacements

    NASA Technical Reports Server (NTRS)

    Wyman, D.; Steinman, R. M.

    1973-01-01

    Recently Timberlake, Wyman, Skavenski, and Steinman (1972) concluded in a study of the oculomotor error signal in the fovea that 'the oculomotor dead zone is surely smaller than 10 min and may even be less than 5 min (smaller than the 0.25 to 0.5 deg dead zone reported by Rashbass (1961) with similar stimulus conditions).' The Timberlake et al. speculation is confirmed by demonstrating that the fixating eye consistently and accurately corrects target displacements as small as 3.4 min. The contact lens optical lever technique was used to study the manner in which the oculomotor system responds to small step displacements of the fixation target. Subjects did, without prior practice, use saccades to correct step displacements of the fixation target just as they correct small position errors during maintained fixation.

  9. Three-dimensional system integration for HUD placement on a new tactical airlift platform: design eye point vs. HUD eye box with accommodation and perceptual implications

    NASA Astrophysics Data System (ADS)

    Harbour, Steven D.; Hudson, Jeffery A.; Zehner, Gregory F.

    2012-06-01

    The retrofitting of a cockpit with a Head-Up-Display (HUD) raises potential accommodation and perceptual issues for pilots that must be addressed. For maximum optical efficiency, the goal is to be able to place every pilot's eye into the HUD Eye Motion Box (EMB) given a seat adjustment range. Initially, the Eye Reference Point (ERP) of the EMB should theoretically be located on the aircraft's original cockpit Design Eye Point (DEP), but human postures vary, and HUD systems may not be optimally placed. In reality, there is a distribution of pilot eyes around the DEP (which is dominant eye dependent); therefore, this must be accounted for in order to obtain appropriate visibility of all of the symbology based on photonic characteristics of the HUD. Pilot size and postural variation need to be taken into consideration when positioning the HUD system to ensure proper vision of all HUD symbology in addition to meeting the basic physical accommodation requirements of the cockpit. The innovative process and data collection methods for maximizing accommodation and pilot perception on a new "tactical airlift" platform are discussed as well as the related neurocognitive factors and the effects of information display design on cognitive phenomena.

  10. Beyond multiple mechanisms and a unique drug: Defective autophagy as pivotal player in cerebral cavernous malformation pathogenesis and implications for targeted therapies

    PubMed Central

    Marchi, Saverio; Trapani, Eliana; Corricelli, Mariangela; Goitre, Luca; Pinton, Paolo; Retta, Saverio Francesco

    2016-01-01

    ABSTRACT Cerebral Cavernous Malformation (CCM) is a major cerebrovascular disease of proven genetic origin affecting 0.3–0.5% of the general population. It is characterized by abnormally enlarged and leaky capillaries, which predispose to seizures, focal neurological deficits and intracerebral hemorrhage. Causative loss-of-function mutations have been identified in 3 genes, KRIT1 (CCM1), CCM2 and PDCD10 (CCM3). While providing new options for the development of pharmacological therapies, recent advances in knowledge of the functions of these genes have clearly indicated that they exert pleiotropic effects on several biological pathways. Recently, we found that defective autophagy is a common feature of loss-of-function mutations of the 3 known CCM genes, and underlies major phenotypic signatures of CCM disease, including endothelial-to-mesenchymal transition and enhanced ROS production, suggesting a unifying pathogenetic mechanism and reconciling the distinct therapeutic approaches proposed so far. In this invited review, we discuss autophagy as a possible unifying mechanism in CCM disease pathogenesis, and new perspectives and avenues of research for disease prevention and treatment, including novel potential drug repurposing and combination strategies, and identification of genetic risk factors as basis for development of personalized medicine approaches. PMID:27141412

  11. Implication of complex vertebral malformation and bovine leukocyte adhesion deficiency DNA-based testing on disease frequency in the Holstein population.

    PubMed

    Schütz, E; Scharfenstein, M; Brenig, B

    2008-12-01

    Two inherited lethal disorders, bovine leukocyte adhesion deficiency (BLAD) and complex vertebral malformation (CVM), play a major role in breeding of Holstein cattle. Both inherited diseases are based on single nucleotide polymorphisms that have been known for 12 and 7 yr, respectively. A total of 25,753 cattle were genotyped for BLAD (18,200 tests) and CVM (14,493 tests) in our laboratory since the beginning of the genotyping programs for these diseases. Based on founder effects, the CVM mutation is thought to be linked to milk production. The BLAD was genotyped using RFLP until 2001; then a fluorescence resonance energy transfer assay on a LightCycler was used, as for CVM genotyping. By using single nucleotide polymorphism-aided breeding, the allelic frequency of the BLAD and CVM mutations in the active sire population was reduced from 9.4% in 1997 to 0.3% in 2007 (BLAD) and from 8.3% in 2002 to 2.3% in 2007 (CVM), with calculated half-life of the mutant allele of 2.1 yr for BLAD and 3.6 yr for CVM. An observed increase of BLAD frequency in 1999 could be attributed to the massive use of a BLAD-positive sire tested falsely negative in another laboratory. These data show that marker-assisted selection is capable of substantially reducing the frequency of a mutation within a period of not more than 5 yr. The different selection strategies against the lethal recessive allele in CVM and BLAD are reflected in the different reduction rates of the specific allele frequencies. PMID:19038961

  12. Looking at Eye Gaze Processing and Its Neural Correlates in Infancy--Implications for Social Development and Autism Spectrum Disorder

    ERIC Educational Resources Information Center

    Hoehl, Stefanie; Reid, Vincent M.; Parise, Eugenio; Handl, Andrea; Palumbo, Letizia; Striano, Tricia

    2009-01-01

    The importance of eye gaze as a means of communication is indisputable. However, there is debate about whether there is a dedicated neural module, which functions as an eye gaze detector and when infants are able to use eye gaze cues in a referential way. The application of neuroscience methodologies to developmental psychology has provided new…

  13. Hyperosmolar Stress Induces Neutrophil Extracellular Trap Formation: Implications for Dry Eye Disease

    PubMed Central

    Tibrewal, Sapna; Ivanir, Yair; Sarkar, Joy; Nayeb-Hashemi, Neema; Bouchard, Charles S.; Kim, Eunjae; Jain, Sandeep

    2014-01-01

    Purpose. To determine if hyperosmolar stress can stimulate human neutrophils to form neutrophil extracellular traps (NETs) and to investigate potential strategies to reduce formation of NETs (NETosis) in a hyperosmolar environment. Methods. Neutrophils were isolated from peripheral venous blood of healthy subjects and incubated in iso-osmolar (280 mOsM) or hyperosmolar (420 mOsM) media for 4 hours. Neutrophil extracellular traps were quantified using a PicoGreen dye assay to measure extracellular DNA. Two known inhibitors of NETosis, staurosporine and anti-β2 integrin blocking antibody, and two proresolution formyl peptide receptor 2 (FPR2) agonists, annexin/lipocortin-1 mimetic peptide and 15-epi-lipoxin A4, were evaluated as possible strategies to reduce hyperosmolarity-induced NETosis. Results. The amount of NETs induced by hyperosmolar medium (420 mOsM) increased linearly over time to 3.2 ± 0.3 times that induced by iso-osmolar medium at 4 hours (P < 0.05). NETosis increased exponentially with increasing osmolarity and was independent of the stimulus used to increase osmolarity. Upon neutrophil exposure to hyperosmolar stress, restoration of iso-osmolar conditions decreased NET formation by 52.7% ± 5% (P < 0.05) but did not completely abrogate it. Among the strategies tested to reduce NETosis in a hyperosmolar environment, annexin-1 peptide was the most efficacious. Conclusions. Hyperosmolarity induces formation of NETs by neutrophils. This NETosis mechanism may explain the presence of excessive NETs on the ocular surface of patients with dry eye disease. Because they reduce hyperosmolarity-induced NETosis, FPR2 agonists may have therapeutic potential in these patients. PMID:25406284

  14. Treatment of Nystagmus in Brainstem Cavernous Malformation with Botulinum Toxin

    PubMed Central

    Fredrick, Douglas; Steinberg, Gary K; Liao, Yaping J

    2016-01-01

    We report a long-term eye movement study of a 68-year-old female with pontomedullary junction cavernous malformation whose dysconjugate nystagmus was treated with retrobulbar botulinum toxin A injections. Sequential, bilateral retrobulbar injections of botulinum toxin A were performed. Injections immediately decreased oscillopsia and nystagmus, and improved visual acuities. One to three months following injection, three-dimensional infrared oculography measured a significant 39-100% (P = 0.001) decrease in nystagmus amplitudes at multiple dimensions. This improvement diminished by six months in the right eye but sustained for about one year in the left eye. Over two years, botulinum toxin A injections were performed twice in the left eye and five times in the right eye. Our study supported the safe and effective use of repetitive retrobulbar botulinum toxin A injections in symptomatic nystagmus that failed medical therapy. PMID:27182467

  15. Live-cell imaging to detect phosphatidylserine externalization in brain endothelial cells exposed to ionizing radiation: implications for the treatment of brain arteriovenous malformations.

    PubMed

    Zhao, Zhenjun; Johnson, Michael S; Chen, Biyi; Grace, Michael; Ukath, Jaysree; Lee, Vivienne S; McRobb, Lucinda S; Sedger, Lisa M; Stoodley, Marcus A

    2016-06-01

    OBJECT Stereotactic radiosurgery (SRS) is an established intervention for brain arteriovenous malformations (AVMs). The processes of AVM vessel occlusion after SRS are poorly understood. To improve SRS efficacy, it is important to understand the cellular response of blood vessels to radiation. The molecular changes on the surface of AVM endothelial cells after irradiation may also be used for vascular targeting. This study investigates radiation-induced externalization of phosphatidylserine (PS) on endothelial cells using live-cell imaging. METHODS An immortalized cell line generated from mouse brain endothelium, bEnd.3 cells, was cultured and irradiated at different radiation doses using a linear accelerator. PS externalization in the cells was subsequently visualized using polarity-sensitive indicator of viability and apoptosis (pSIVA)-IANBD, a polarity-sensitive probe. Live-cell imaging was used to monitor PS externalization in real time. The effects of radiation on the cell cycle of bEnd.3 cells were also examined by flow cytometry. RESULTS Ionizing radiation effects are dose dependent. Reduction in the cell proliferation rate was observed after exposure to 5 Gy radiation, whereas higher radiation doses (15 Gy and 25 Gy) totally inhibited proliferation. In comparison with cells treated with sham radiation, the irradiated cells showed distinct pseudopodial elongation with little or no spreading of the cell body. The percentages of pSIVA-positive cells were significantly higher (p = 0.04) 24 hours after treatment in the cultures that received 25- and 15-Gy doses of radiation. This effect was sustained until the end of the experiment (3 days). Radiation at 5 Gy did not induce significant PS externalization compared with the sham-radiation controls at any time points (p > 0.15). Flow cytometric analysis data indicate that irradiation induced growth arrest of bEnd.3 cells, with cells accumulating in the G2 phase of the cell cycle. CONCLUSIONS Ionizing radiation

  16. Eye Infections

    MedlinePlus

    Your eyes can get infections from bacteria, fungi, or viruses. Eye infections can occur in different parts of the eye and can affect just one eye or both. Two common eye infections are Conjunctivitis - also known as pinkeye. Conjunctivitis is ...

  17. Treatment of congenital malformations.

    PubMed

    Brucker, Sara Yvonne; Rall, Katharina; Campo, Rudi; Oppelt, Peter; Isaacson, Keith

    2011-03-01

    The prevalence of müllerian malformations is 1 in 200, or 0.5%. A third of the anomalies are septate, a third bicornuate uteri, 10% arcuate uterus, 10% didelphis and unicornuate uterus, and < 5% uterine and vaginal aplasia. Correct diagnosis of the malformation is most important but often very difficult. Correct treatment can only be performed if the malformation is clear. Longitudinal vaginal septums have to be removed due to potential obstetric problems. Transverse vaginal septums can cause hematocolpos and pain and have to be incised crosswise and excised so as not to shorten the vagina at the same time. Congenital vaginal agenesis occurs in Mayer-Rokitansky-Kuster-Hauser syndrome patients and in androgen insensitivity syndrome. The first choice for surgical treatment should be the new laparoscopic-assisted creation of a neovagina. Septate uterus has to be distinguished from a bicornuate uterus. Even if it is not proven to be a cause for infertility, the chance of miscarriage can be diminished by performing hysteroscopic metroplasty. Repair of a uterine septum in infertility patients often improves pregnancy rates. In contrast, surgical repair of a bicornuate uterus requires an abdominal metroplasty. This should only be performed if the patient has recurrent fetal loss due to the uterine structural defect. In a unicornuate uterus it is most important to determine if there is a second uterine horn that can cause cyclic pain if it has functioning endometrium. The only surgical option in these cases is to remove the rudimentary uterus with endometrium and hematometra, respectively. PMID:21437824

  18. Arteriovenous Malformation Management

    SciTech Connect

    Yakes, Wayne F.; Rossi, Plinio; Odink, Henk

    1996-11-15

    Arteriovenous malformations (AVM) are rare vascular lesions that can present with a myriad of clinical presentations. In our institutions, initial workup consists of a clinical exam, color Doppler imaging, and magnetic resonance imaging. After the initial noninvasive workup, arteriography, at times closed system venography, and ethanol endovascular repair of the AVM is performed under general anesthesia. Depending on the size of the lesion, additional Swan-Ganz line and arterial line monitoring are performed. Patients are usually observed overnight and uneventfully discharged the following day if no complication occurs. Patients are followed at periodic intervals despite cure of their lesion. Long-term follow-up is essential in AVM management.

  19. Chiari-like Malformation.

    PubMed

    Loughin, Catherine A

    2016-03-01

    Chiari-like malformation is a condition of the craniocervical junction in which there is a mismatch of the structures of the caudal cranial fossa causing the cerebellum to herniate into the foramen magnum. This herniation can lead to fluid buildup in the spinal cord, also known as syringomyelia. Pain is the most common clinical sign followed by scratching. Other neurologic signs noted are facial nerve deficits, seizures, vestibular syndrome, ataxia, menace deficit, proprioceptive deficits, head tremor, temporal muscle atrophy, and multifocal central nervous system signs. MRI is the diagnostic of choice, but computed tomography can also be used. PMID:26631589

  20. Brain Damage and Motor Cortex Impairment in Chronic Obstructive Pulmonary Disease: Implication of Nonrapid Eye Movement Sleep Desaturation

    PubMed Central

    Alexandre, Francois; Heraud, Nelly; Sanchez, Anthony M.J.; Tremey, Emilie; Oliver, Nicolas; Guerin, Philippe; Varray, Alain

    2016-01-01

    damage and motor cortex impairment in chronic obstructive pulmonary disease: implication of nonrapid eye movement sleep desaturation. SLEEP 2016;39(2):327–335. PMID:26446126

  1. Brain arteriovenous malformations.

    PubMed

    Ferrara, Adi R

    2011-01-01

    An arteriovenous malformation (AVM) is a particular abnormality of blood vessels. Brain AVMs are congenital, but symptoms usually do not appear until the second decade of life - if at all. The most common presenting symptom is a brain hemorrhage, but other possible symptoms include neurological deficits, seizures and headaches. Until recently, the gold standard for diagnosing AVM was conventional angiography. However, computed tomography and magnetic resonance angiography are now the first-line diagnostic tools for AVMs. This article reviews the presenting symptoms, diagnostic procedures and treatment options for brain AVMs, including embolization, micro-surgery and radiosurgery. This article is a Directed Reading. Your access to Directed Reading quizzes for continuing education credit is determined by your CE preference. For access to other quizzes, go to www.asrt.org/store. PMID:21771938

  2. Eye redness

    MedlinePlus

    Bloodshot eyes; Red eyes; Scleral infection; Conjunctival infection ... There are many causes of a red eye or eyes. Some are medical emergencies and some are a cause for concern, but not an emergency. Others are nothing to worry about. ...

  3. Eye Cancer

    MedlinePlus

    ... Eye Cancer - Overview Request Permissions Print to PDF Eye Cancer - Overview Approved by the Cancer.Net Editorial Board , ... Cancer Research and Advocacy Survivorship Blog About Us Eye Cancer Guide Cancer.Net Guide Eye Cancer Overview Statistics ...

  4. Eye emergencies

    MedlinePlus

    ... Trauma A black eye is usually caused by direct trauma to the eye or face. The bruise ... can cause bruising around the eyes, even without direct injury to the eye. Sometimes, serious damage to ...

  5. Eye pain

    MedlinePlus

    Ophthalmalgia; Pain - eye ... Pain in the eye can be an important symptom of a health problem. Make sure you tell your health care provider if you have eye pain that does not go away. Tired eyes or ...

  6. Arteriovenous malformations of the bladder.

    PubMed

    Grunberger, I; DeAsis, A; Torno, R; Godec, C J

    1989-01-01

    We report a rare case of a localized arteriovenous malformation of the bladder mimicking a bladder tumor and presenting with gross hematuria. The mass was successfully resected transurethrally. PMID:2908934

  7. Embolization of uterine arteriovenous malformation

    PubMed Central

    Chen, Yan; Wang, Guoyun; Xie, Fubo; Wang, Bo; Tao, Guowei; Kong, Beihua

    2013-01-01

    Background: Uterine arteriovenous malformation is a rare but potential life-threatening source of bleeding. A high index of suspicion and accurate diagnosis of the condition in a timely manor are essential because instrumentation that is often used for other sources of uterine bleeding can be lead to massive hemorrhage. Case: We describe here a case of uterine arteriovenous malformation. A 32-year-old woman presented abnormal vaginal bleeding following the induced abortion. A diagnosis of uterine arteriovenous malformation made on the basis of Doppler ultrasonraphy was confirmed through pelvic angiography. The embolization of bilateral uterine arteries was performed successfully. Conclusion: Uterine arteriovenous malformation should be suspected in patient with abnormal vaginal bleeding, especially who had the past medical history incluing cesarean section, induced abortion, or Dillation and Curethage and so on. Although angiography remains the gold standard, Doppler ultrasonography is also a good noninvasive technique. The transcatheter uterine artery embolization offers a safe and effective treatment PMID:24639742

  8. Malformations of cortical development

    PubMed Central

    Pang, Trudy; Atefy, Ramin; Sheen, Volney

    2012-01-01

    Background Malformations of cortical development (MCD) are increasingly recognized as an important cause of epilepsy and developmental delay. MCD encompass a wide spectrum of disorders with various underlying genetic etiologies and clinical manifestations. High resolution imaging has dramatically improved our recognition of MCD. Review Summary This review will provide a brief overview of the stages of normal cortical development, including neuronal proliferation, neuroblast migration, and neuronal organization. Disruptions at various stages lead to characteristic MCD. Disorders of neurogenesis give rise to microcephaly (small brain) or macrocephaly (large brain). Disorders of early neuroblast migration give rise to periventricular heterotopia (neurons located along the ventricles), whereas abnormalities later in migration lead to lissencephaly (smooth brain) or subcortical band heterotopia (smooth brain with a band of heterotopic neurons under the cortex). Abnormal neuronal migration arrest give rise to over-migration of neurons in cobblestone lissencephaly. Lastly, disorders of neuronal organization cause polymicrogyria (abnormally small gyri and sulci). This review will also discuss the known genetic mutations and potential mechanisms that contribute to these syndromes. Conclusion Identification of various gene mutations has not only given us greater insight into some of the pathophysiologic basis of MCD, but also an understanding of the processes involved in normal cortical development. PMID:18469675

  9. Pulmonary arteriovenous malformations.

    PubMed

    Shovlin, Claire L

    2014-12-01

    Within the past decade, pulmonary arteriovenous malformations (PAVMs) have evolved from rare curiosities to not uncommon clinical states, with the latest estimates suggesting a prevalence of ~1 in 2,600. PAVMs provide anatomic right-to-left shunts, allowing systemic venous blood to bypass gas exchange and pulmonary capillary bed processing. Hypoxemia and enhanced ventilatory demands result, although both are usually asymptomatic. Paradoxical emboli lead to strokes and cerebral abscesses, and these commonly occur in individuals with previously undiagnosed PAVMs. PAVM hemorrhage is rare but is the main cause of maternal death in pregnancy. PAVM occlusion by embolization is the standard of care to reduce these risks. However, recent data demonstrate that currently recommended management protocols can result in levels of radiation exposure that would be classified as harmful. Recent publications also provide a better appreciation of the hematologic and cardiovascular demands required to maintain arterial oxygen content and oxygen consumption in hypoxemic patients, identify patient subgroups at higher risk of complications, and emphasize the proportion of radiologically visible PAVMs too small to treat by embolization. This review, therefore, outlines medical states that exacerbate the consequences of PAVMs. Chief among these is iron deficiency, which is commonly present due to concurrent hereditary hemorrhagic telangiectasia: iron deficiency impairs hypoxemia compensations by restricting erythropoiesis and increases the risk of ischemic strokes. Management of periodontal disease, dental interventions, pulmonary hypertension, and pregnancy also requires specific consideration in the setting of PAVMs. The review concludes by discussing to what extent previously recommended protocols may benefit from modification or revision. PMID:25420112

  10. Pulmonary Arteriovenous Malformations

    PubMed Central

    2014-01-01

    Within the past decade, pulmonary arteriovenous malformations (PAVMs) have evolved from rare curiosities to not uncommon clinical states, with the latest estimates suggesting a prevalence of ∼1 in 2,600. PAVMs provide anatomic right-to-left shunts, allowing systemic venous blood to bypass gas exchange and pulmonary capillary bed processing. Hypoxemia and enhanced ventilatory demands result, although both are usually asymptomatic. Paradoxical emboli lead to strokes and cerebral abscesses, and these commonly occur in individuals with previously undiagnosed PAVMs. PAVM hemorrhage is rare but is the main cause of maternal death in pregnancy. PAVM occlusion by embolization is the standard of care to reduce these risks. However, recent data demonstrate that currently recommended management protocols can result in levels of radiation exposure that would be classified as harmful. Recent publications also provide a better appreciation of the hematologic and cardiovascular demands required to maintain arterial oxygen content and oxygen consumption in hypoxemic patients, identify patient subgroups at higher risk of complications, and emphasize the proportion of radiologically visible PAVMs too small to treat by embolization. This review, therefore, outlines medical states that exacerbate the consequences of PAVMs. Chief among these is iron deficiency, which is commonly present due to concurrent hereditary hemorrhagic telangiectasia: iron deficiency impairs hypoxemia compensations by restricting erythropoiesis and increases the risk of ischemic strokes. Management of periodontal disease, dental interventions, pulmonary hypertension, and pregnancy also requires specific consideration in the setting of PAVMs. The review concludes by discussing to what extent previously recommended protocols may benefit from modification or revision. PMID:25420112

  11. Implications of comorbidity for genetic studies of bipolar disorder: P300 and eye tracking as biological markers for illness.

    PubMed

    Blackwood, D H; Sharp, C W; Walker, M T; Doody, G A; Glabus, M F; Muir, W J

    1996-06-01

    In large families with affective illness, identification of a biological variable is needed that reflects brain dysfunction at an earlier point than symptom development. Eye movement disorder, a possible vulnerability marker in schizophrenia, is less clearly associated with affective illness, although a subgroup of affective disorders shows smooth-pursuit eye movement disorder. The auditory P300 event-related potential may be a useful marker for risk to schizophrenia, but a role in bipolar illness is less certain. The distribution of these two biological variables and their association with symptoms in two multiply affected bipolar families is described. In a single, five-generation family identified for linkage studies through two bipolar I (BPI) probands, 128 members (including 20 spouses) were interviewed. The 108 related individuals had diagnoses of BPI (7), bipolar II (2), cyclothymia (3), or major depressive disorder (19). Eight others had generalised anxiety (1), minor depression (5), intermittent depression (1), or alcoholism (1). Sixty-nine subjects had no psychiatric diagnosis. P300 latency (81) and eye tracking (71) were recorded from a subgroup of relatives within the pedigree. Eye tracking was abnormal in 11 of 71 relatives (15.5%) and was bimodally distributed. In these 11 relatives, clinical diagnoses included minor depression (1), alcoholism (1) and generalised anxiety disorder (1). P300 latency was normally distributed and did not differ from controls. In a second family in which five of seven siblings have BPI illness, P300 latency and eye movement disorder were found in affected relatives and in some unaffected offspring. In these large families, clinical diagnoses of general anxiety, alcoholism and minor depression, when associated with eye tracking abnormality, may be considered alternative clinical manifestations of the same trait that in other relatives is expressed as bipolar illness. PMID:8864153

  12. Eye Emergencies

    MedlinePlus

    ... Emergencies Cardiac Emergencies Eye Emergencies Lung Emergencies Surgeries Eye Emergencies Marfan syndrome significantly increases your risk of ... light-sensitive membrane in the back of the eye (the retina) from its supporting layers. It is ...

  13. Eye Wear

    MedlinePlus

    Eye wear protects or corrects your vision. Examples are Sunglasses Safety goggles Glasses (also called eyeglasses) Contact ... jobs and some sports carry a risk of eye injury. Thousands of children and adults get eye ...

  14. Eye Injuries

    MedlinePlus

    The structure of your face helps protect your eyes from injury. Still, injuries can damage your eye, sometimes severely enough that you could lose your vision. Most eye injuries are preventable. If you play sports or ...

  15. Eye Cancer

    MedlinePlus

    Cancer of the eye is uncommon. It can affect the outer parts of the eye, such as the eyelid, which are made up ... adults are melanoma and lymphoma. The most common eye cancer in children is retinoblastoma, which starts in ...

  16. Eye Diseases

    MedlinePlus

    ... the back of the eye Macular degeneration - a disease that destroys sharp, central vision Diabetic eye problems ... defense is to have regular checkups, because eye diseases do not always have symptoms. Early detection and ...

  17. Eye Injuries

    MedlinePlus

    ... of your face helps protect your eyes from injury. Still, injuries can damage your eye, sometimes severely enough that you could lose your vision. Most eye injuries are preventable. If you play sports or work ...

  18. Ocular Morbidity and Health Seeking Behaviour in Kwara State, Nigeria: Implications for Delivery of Eye Care Services

    PubMed Central

    Senyonjo, Laura; Lindfield, Robert; Mahmoud, Abdulraheem; Kimani, Kahaki; Sanda, Safiya; Schmidt, Elena

    2014-01-01

    Background There is currently limited information as to which conditions are most prevalent in communities in developing countries. This makes effective planning of eye services difficult. Methods 3,899 eligible individuals were recruited and examined in a cross-sectional survey in Asa Local Government Area, Nigeria. Those who self-reported an ocular morbidity were also asked about their health-seeking behaviour. Health records of local facilities were reviewed to collect information on those presenting with ocular morbidities. Results 25.2% (95% CI: 22.0–28.6) had an ocular morbidity in at least one eye. Leading causes were presbyopia and conditions affecting the lens and conjunctiva. The odds of having an ocular morbidity increased with age and lower educational attainment. 10.1% (7.7–13.0) self-reported ocular morbidity; 48.6% (40.4–56.8) of them reported seeking treatment. At the facility level, 344 patients presented with an ocular morbidity over one month, the most common conditions were red (26.3%) or itchy (20.8%) eyes. Conclusion Ocular morbidities, including many non vision impairing conditions, were prevalent with a quarter of the population affected. The delivery of eye care services needs to be tailored in order to address this need and ensure delivery in a cost-effective and sustainable manner. PMID:25165984

  19. The anatomical relationships between the avian eye, orbit and sclerotic ring: implications for inferring activity patterns in extinct birds

    PubMed Central

    Hall, Margaret I

    2008-01-01

    Activity pattern, or the time of day when an animal is awake and active, is highly associated with that animal's ecology. There are two principal activity patterns: diurnal, or awake during the day in a photopic, or high light level, environment; and nocturnal, awake at night in scotopic, or low light level, conditions. Nocturnal and diurnal birds exhibit characteristic eye shapes associated with their activity pattern, with nocturnal bird eyes optimized for visual sensitivity with large corneal diameters relative to their eye axial lengths, and diurnal birds optimized for visual acuity, with larger axial lengths of the eye relative to their corneal diameters. The current study had three aims: (1) to quantify the nature of the relationship between the avian eye and its associated bony anatomy, the orbit and the sclerotic ring; (2) to investigate how activity pattern is reflected in that bony anatomy; and (3) to identify how much bony anatomy is required to interpret activity pattern reliably for a bird that does not have the soft tissue available for study, specifically, for a fossil. Knowledge of extinct avian activity patterns would be useful in making palaeoecological interpretations. Here eye, orbit and sclerotic ring morphologies of 140 nocturnal and diurnal bird species are analysed in a phylogenetic context. Although there is a close relationship between the avian eye and orbit, activity pattern can only be reliably interpreted for bony-only specimens, such as a fossil, that include both measurements of the sclerotic ring and orbit depth. Any missing data render the fossil analysis inaccurate, including fossil specimens that are flat and therefore do not have an orbit depth available. For example, activity pattern cannot be determined with confidence for Archaeopteryx lithographica, which has a complete sclerotic ring but no orbit depth measurement. Many of the bird fossils currently available that retain a good sclerotic ring tend to be flat specimens

  20. Why study human limb malformations?

    PubMed Central

    Wilkie, Andrew OM

    2003-01-01

    Congenital limb malformations occur in 1 in 500 to 1 in 1000 human live births and include both gross reduction defects and more subtle alterations in the number, length and anatomy of the digits. The major causes of limb malformations are abnormal genetic programming and intra-uterine disruption to development. The identification of causative gene mutations is important for genetic counselling and also provides insights into the mechanisms controlling limb development. This article illustrates some of the lessons learnt from the study of human limb malformation, organized into seven categories. These are: (1) identification of novel genes, (2) allelic mutation series, (3) pleiotropy, (4) qualitative or (5) quantitative differences between mouse and human development, (6) physical and teratogenic disruption, and (7) unusual biological phenomena. PMID:12587917

  1. Imaging of congenital pulmonary malformations.

    PubMed

    Praticò, Francesco Emanuele; Corrado, Michele; Della Casa, Giovanni; Parziale, Raffaele; Russo, Giuseppe; Gazzani, Silvia Eleonora; Rossi, Enrica; Borgia, Daniele; Mostardi, Maurizio; Bacchini, Emanuele; Cella, Simone; De Filippo, Massimo

    2016-01-01

    Congenital pulmonary malformations represent a broad spectrum of anomalies that may result in varied clinical and pathologic pictures, ranging from recurrent pulmonary infections and acute respiratory distress syndrome, which require timely drug therapy, up to large space-occupying lesions needing surgical treatment. This classification includes three distinct anatomical and pathological entities, represented by Congenital Cystic Adenomatoid Malformation, Bronchopulmonary Sequestration and Congenital Lobar Emphysema. The final result in terms of embryological and fetal development of these alterations is a Congenital Lung Hypoplasia. Since even Bronchial Atresia, Pulmonary Bronchogenic Cysts and Congenital Diaphragmatic Hernias are due to Pulmonary Hypoplasia, these diseases will be discussed in this review (1, 2). PMID:27467867

  2. Genetics Home Reference: Dandy-Walker malformation

    MedlinePlus

    ... All Close All Description Dandy-Walker malformation affects brain development, primarily development of the cerebellum , which is the ... Walker malformation , signs and symptoms caused by abnormal brain development are present at birth or develop within the ...

  3. Arteriovenous malformation of nose-revision surgery.

    PubMed

    Srinivas, C V; Kailash, N; Kailas, Gayattre; Divya Jyothi, N

    2012-12-01

    Areteriovenous malformations are rare in the head and neck region and generally arise from intracranial vessels. We present one rare case with spontaneous arteriovenous malformations related to the nose. PMID:24294582

  4. Intracranial vascular malformations: MR and CT imaging

    SciTech Connect

    Kucharczyk, W.; Lemme-Pleghos, L.; Uske, A.; Brant-Zawadzki, M.; Dooms, G.; Norman, D.

    1985-08-01

    Twenty-four patients with 29 cerebrovascular malformations were evaluated with a combination of computed tomography (CT), angiography, and magnetic resonance (MR) imaging. Characteristics of the malformations on MR images were reviewed retrospectively, and a comparative evaluation of MR and CT images was made. Of 14 angiographically evident malformations, 13 intra-axial lesions were detected on both CT and MR images, and one dural malformation gave false-negative results on both modalities. The appearance of parenchymal lesions on MR images closely mirrored characteristic CT findings. Angiographically evident malformations have a highly characteristic appearance on MR images. MR may be more sensitive than CT in the detection of small hemorrhagic foci associated with cryptic arteriovenous malformations and may add specificity in the diagnosis of occult malformations in some cases, but MR is less sensitive than CT for the detection of small calcified malformations.

  5. Use of the field-of-view evaluation apparatus (FOVEA) for laser eye protection research: capabilities, limitations, and implications

    NASA Astrophysics Data System (ADS)

    DeVilbiss, Carita A.; Schmeisser, Elmar T.; Ercoline, William R.; Cantu, Naomi

    2001-05-01

    While the major technological goal of laser eye protection (LEP) is to attenuate any laser radiation that passes through it, consideration of the physical format in which it is realized must not be overlooked. The best protective material can be rendered essentially useless if it does not cover the appropriate field of regard for the wearer. To map the visual field of regard (FOR) coverage provided by LEP devices, the field of view evaluation apparatus (FOVEA) was used. The FOVEA is a one-meter radius arc perimeter containing computer-controlled light emitting diodes at one-degree intervals. Three different mapppings of the visual field can be obtained with this facility: (a) the monocular baseline FOR; (b) the accessibility the LEP demonstrates against the direct threat (i.e., a laser source entering the eye beyond frame edge); and (c) the accessibility to indirect hazard (i.e., laser energy reflected from the lens backside entering the eye). Comparison of the direct and indirect fields of regard demonstrates the wide coverage variation generated by alternate frame styles and differing head shapes. These results need to be interpreted with respect to FOVEA limitations. First, the full FOR is mapped without regard for the relative importance of the periphery versus the fovea. Second, the coverage from a particular frame style must be measured and specified with an appropriate range of anthropometric face forms to ensure coverage consistency.

  6. 36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting.

    PubMed

    Gripp, Karen W; Adam, Margaret P; Hudgins, Louanne; Carey, John C

    2016-07-01

    The 36th Annual David W Smith Workshop on Malformations and Morphogenesis was held on August 14-19, 2015 at the Harbourtowne Conference Center in St. Michaels Maryland. The Workshop, which honors the legacy of David W Smith, brought together over 120 clinicians and researchers interested in congenital malformations and their underlying mechanisms of morphogenesis. As is the tradition of the meeting, the Workshop highlighted five themes besides mechanisms of morphogenesis: Rasopathies, Eye Malformations, Therapeutics, Prenatal Diagnosis, and Disorders of Sex Development. This Conference Report includes the abstracts presented at the 2015 Workshop. © 2016 Wiley Periodicals, Inc. PMID:27119594

  7. Reconstruction of middle ear malformations

    PubMed Central

    Schwager, Konrad

    2008-01-01

    Malformations of the middle ear are classified as minor and major malformations. Minor malformations appear with regular external auditory canal, tympanic membrane and aerated middle ear space. The conducting hearing loss is due to fixation or interruption of the ossicular chain. The treatment is surgical, following the rules of ossiculoplasty and stapes surgery. In major malformations (congenital aural atresia) there is no external auditory canal and a deformed or missing pinna. The mastoid and the middle ear space may be underdevelopped, the ossicular chain is dysplastic. Surgical therapy is possible in patients with good aeration of the temporal bone, existing windows, a near normal positioned facial nerve and a mobile ossicular chain. Plastic and reconstructive surgery of the pinna should proceed the reconstruction of the external auditory canal and middle ear. In cases of good prognosis unilateral aural atresia can be approached already in childhood. In patients with high risk of surgical failure, bone anchored hearing aids are the treatment of choice. Recent reports of implantable hearing devices may be discussed as an alternative treatment for selected patients. PMID:22073077

  8. Overgrowth syndromes with vascular malformations.

    PubMed

    Hagen, Solveig L; Hook, Kristen P

    2016-03-01

    This review provides a clinically-oriented summary of the most commonly encountered overgrowth syndromes associated with vascular malformations. This manuscript will outline morphologic features, clinical evaluation and management of this complex group of patients. Recent genetic advances have aided in classification and help to explain overlapping clinical features in many cases. PMID:27607325

  9. Proximity to pollution sources and risk of amphibian limb malformation.

    PubMed

    Taylor, Brynn; Skelly, David; Demarchis, Livia K; Slade, Martin D; Galusha, Deron; Rabinowitz, Peter M

    2005-11-01

    The cause of limb deformities in wild amphibian populations remains unclear, even though the apparent increase in prevalence of this condition may have implications for human health. Few studies have simultaneously assessed the effect of multiple exposures on the risk of limb deformities. In a cross-sectional survey of 5,264 hylid and ranid metamorphs in 42 Vermont wetlands, we assessed independent risk factors for nontraumatic limb malformation. The rate of nontraumatic limb malformation varied by location from 0 to 10.2%. Analysis of a subsample did not demonstrate any evidence of infection with the parasite Ribeiroia. We used geographic information system (GIS) land-use/land-cover data to validate field observations of land use in the proximity of study wetlands. In a multiple logistic regression model that included land use as well as developmental stage, genus, and water-quality measures, proximity to agricultural land use was associated with an increased risk of limb malformation (odds ratio = 2.26; 95% confidence interval, 1.42-3.58; p < 0.001). The overall discriminant power of the statistical model was high (C = 0.79). These findings from one of the largest systematic surveys to date provide support for the role of chemical toxicants in the development of amphibian limb malformation and demonstrate the value of an epidemiologic approach to this problem. PMID:16263502

  10. Galenic arteriovenous malformation with precocious puberty.

    PubMed

    Ventureyra, E C; Badejo, A

    1984-01-01

    Pineal lesions may appear with precocious puberty. In this report, a patient with precocious puberty and macrogenitosomia caused by an arteriovenous malformation in the pineal region is presented. This vascular malformation was not visualized during investigations 3 years before the present series. It appears that the vascular malformation increased considerably in size within a 3-year period. This case suggests that some arteriovenous malformations may take a malignant course, increasing rapidly in size and behaving like tumors by causing destruction and compression of surrounding structures. This case seems to be unique because, to the best of our knowledge, an arteriovenous malformation associated with precocious puberty has never been described previously. PMID:6689808

  11. Intraneural Venous Malformations of the Median Nerve

    PubMed Central

    González Rodríguez, Alba; Midón Míguez, José

    2016-01-01

    Venous malformations arising from the peripheral nerve are a rare type of vascular malformation. We present the first case of an intraneural venous malformation of the median nerve to be reported in a child and review the previous two cases of median nerve compression due to a venous malformation that have been reported. These cases presented with painless masses in the volar aspect of the wrist or with symptoms suggestive of carpal tunnel syndrome. Clinical suspicion should lead to the use of Doppler ultrasonography as the first-line diagnostic tool. Magnetic resonance imaging and histopathology can confirm the diagnosis, as phleboliths are pathognomonic of venous malformations. Surgical treatment appears to be the only modality capable of successfully controlling the growth of an intraneural malformation. Sclerotherapy and radiotherapy have never been used to treat this type of malformation. PMID:27462571

  12. [Scintigraphic study of the lymphatic drainage of the anterior chamber of the mouse eye and its pathophysiological implications].

    PubMed

    Guignier, B; Bourahla, K; Bekaert, V; Brasse, D; Gaucher, D; Speeg-Schatz, C; Bourcier, T

    2013-12-01

    For many years, the intraocular lymphatic system and particularly the drainage of the aqueous humor by this system have been considered non-existant. Our study is the first to demonstrate, in a dynamic in vivo fashion, the existence of lymphatic drainage in the mouse eye. This has become possible with lymphoscintigraphy with nano-molecules of rhenium sulphide, marked by technetium-99m and injected into the anterior chamber of the mouse eye. Readings were taken using an experimental gamma camera specially built for the small animal. The hypothesis of a "uveolymphatic" drainage pathway within the ciliary body, contributing to aqueous outflow, has recently been highlighted by new improvements in microbiology (discovery of lymphatic endothelial-specific markers) and imaging. This new pathway may lead to many prospects: the development of techniques for visualization and quantification of this in vivo lymphatic flow may help to increase our understanding of the physiopathology and perhaps treatment of chronic glaucoma as well as neoplastic conditions. PMID:24099697

  13. Congenital malformations in diabetic offspring.

    PubMed

    Temesio, P; Belitzky, R; Gallego, L; Martell, M; Pose, S V

    1977-01-01

    A retrospective study of 215 deliveries in diabetic mothers at Hospital de Clínicas (Montevideo, Uruguay) has been performed. Presence of congenital malformations (CM) was considered in relation to age of the mothers, class of maternal diabetes, maternal angiopathy, treatment and metabolic control. The prevalence of CM in the series was 9.8%. None of the factors analyzed seems to be statistically linked to the prevalence of CM. PMID:613685

  14. [Maternal imagination and congenital malformations].

    PubMed

    Van Heiningen, Teunis Willem

    2011-01-01

    Since antiquity philosophers and scientists tried to explain the cause of congenital malformations. In early modern medicine maternal imagination was largely accepted as their true cause, This concept was rejected by Blondel, a London physician. Around 1750 Wolff introduced the Hemmungsbildung as the cause of congenital malformations, a concept adopted in 1781 by Blumenbach. Later on Soemmerring (1784), Crichton (1785) and Meckel the younger adopted Blumenbach's concept. In 1824 Suringar further developed it. More and more the excessive development of fetal blood vessels or nerves was rejected as a possible cause, although from time to time these ideas were adopted again. In the early 1800s Etienne Geoffroy Saint-Hilaire (1811) and Vrolik (1817) developed a classification of monstra. These attempts urged Isidore Geoffroy Saint-Hilaire (Etienne's son) and Vrolik the younger (Gerard's son) to develop it further. Nevertheless, around 1840 Vrolik had to admit that although we are well acqainted with the various malformations, we are still ignorant of the primary cause of these phenomena. Meanwhile the dispute between the adherents of the theory of preformation and those who had adopted the concept of epigenesis exercised many minds. In the second half of the eighteenth century the latter theory became more and more adopted and this fact cleared the way for the ideas introduced by Wolff and Blumenbach, because it was consistent with the idea of a gradual development of fetal structures. PMID:22073754

  15. Healthy Eyes

    MedlinePlus

    ... please turn Javascript on. Healthy Eyes Maintaining Your Vision Click for more information Taking good care of ... are qualified to perform eye exams. Aging and Vision Changes As you age, it is normal to ...

  16. Eye Cancer

    MedlinePlus

    ... adults are melanoma and lymphoma. The most common eye cancer in children is retinoblastoma, which starts in the cells of the retina. ... from other parts of the body. Treatment for eye cancer varies by the type and by how advanced ...

  17. Eye Anatomy

    MedlinePlus

    ... News About Us Donate In This Section Eye Anatomy en Español email Send this article to a ... You at Risk For Glaucoma? Childhood Glaucoma Eye Anatomy Five Common Glaucoma Tests Glaucoma Facts and Stats ...

  18. Your Eyes

    MedlinePlus

    ... the eye and keeps it healthy. previous continue Light, Lens, Action These next parts are really cool, ... the eye. previous continue Rods and Cones Process Light The retina uses special cells called rods and ...

  19. Eye Problems

    MedlinePlus

    ... Do you have diabetes, and have you noticed any changes in your vision? Yes Over time, too much glucose (sugar) in the ... eye pink, red or irritated, and are there any secretions or mucus from the eye? Yes CONJUNCTIVITIS, also called "PINK EYE," can be caused ...

  20. Eye floaters

    MedlinePlus

    ... eyes are not on the surface of your eyes, but inside them. These floaters are bits of cell debris that drift around ... is the layer in the back of the eye.) If you notice a sudden increase in floaters or if you see floaters along with flashes ...

  1. Cryptic vascular malformations involving the brainstem

    SciTech Connect

    Yeates, A.; Enzmann, D.

    1983-01-01

    Six patients with angiographically cryptic vascular malformations involving the brainstem were examined with computed tomography (CT). The clinical and CT findings of cryptic vascular malformations of the brainstem are described and distinguished from those of brainstem glioma and multiple sclerosis. Calcification within a brainstem lesion that displays relatively little mass effect and shows little contrast enhancement, particularly when associated with a long history of waxing and waning brainstem symptoms, should suggest a vascular malformation.

  2. Formation constants of copper(I) complexes with cysteine, penicillamine and glutathione: implications for copper speciation in the human eye.

    PubMed

    Königsberger, Lan-Chi; Königsberger, Erich; Hefter, Glenn; May, Peter M

    2015-12-21

    Protonation constants for the biologically-important thioamino acids cysteine (CSH), penicillamine (PSH) and glutathione (GSH), and the formation constants of their complexes with Cu(I), have been measured at 25 °C and an ionic strength of 1.00 mol dm(-3) (Na)Cl using glass electrode potentiometry. The first successful characterisation of binary Cu(I)-CSH and Cu(I)-GSH species over the whole pH range was achieved in this study by the addition of a second thioamino acid, which prevented the precipitation that normally occurs. Appropriate combinations of binary and ternary (mixed ligand) titration data were used to optimise the speciation models and formation constants for the binary species. The results obtained differ significantly from literature data with respect to the detection and quantification of protonated and polynuclear complexes. The present results are thought to be more reliable because of the exceptionally wide pH and concentration ranges employed, the excellent reproducibility of the data, the close agreement between the calculated and observed formation functions, and the low standard deviations and absence of numerical correlation in the constants. The present formation constants were incorporated into a large Cu speciation model which was used to predict, for the first time, metal-ligand equilibria in the biofluids of the human eye. This simulation provided an explanation for the precipitation of metallic copper in lens and cornea, which is known to occur as a consequence of Wilson's disease. PMID:26505238

  3. Chiari Malformations and Syringohydromyelia in Children.

    PubMed

    Poretti, Andrea; Boltshauser, Eugen; Huisman, Thierry A G M

    2016-04-01

    Chiari malformations are a heterogeneous group of disorders with distinct clinical anatomical features all of which involve the hindbrain. Our understanding of Chiari malformations increased tremendously over the past decades, and progress in neuroimaging was instrumental for that. Conventional and advanced neuroimaging of the brain and spine play a key role in the workup of children with suspected Chiari malformations. In addition, neuroimaging studies in Chiari malformations may guide the management, serve as a predictor of outcome, and shed light on the pathogenesis. PMID:27063663

  4. Optical Coherence Tomography in Patients with Chiari I Malformation

    PubMed Central

    Perrini, Paolo; Miccoli, Mario; Baggiani, Angelo; Nardi, Marco

    2015-01-01

    Background/Aims. To evaluate optic nerve head with spectral domain optical coherence tomography (OCT) in patients with Chiari I malformation (CMI) compared to healthy controls. Methods. Cross-sectional study. OCT of the optic nerve head of 22 patients with CMI and 22 healthy controls was quantitatively analyzed. The healthy controls were matched for age and sex with the study population. Mean retinal nerve fiber layer (RNFL) thickness was calculated for both eyes; the mean thickness value was also registered for each quadrant and for each subfield of the four quadrants. Results. CMI patients showed a reduction of the RNFL thickness in both eyes. This reduction was more statistically significant (P < 0.05) for the inferior quadrant in the right eye and in each quadrant than nasal one in the left eye. Conclusion. A distress of the retinal nerve fibers could explain the observed reduction of the RNFL thickness in patients with CMI; in our series the reduction of the RNFL thickness seems lower when CMI is associated with syringomyelia. PMID:25815335

  5. Diffuse malformations of cortical development.

    PubMed

    Bahi-Buisson, Nadia; Guerrini, Renzo

    2013-01-01

    Malformations of cortical development (MCD) represent a major cause of developmental disabilities and severe epilepsy. Advances in imaging and genetics have improved the diagnosis and classification of these conditions. Up to now, eight genes have been involved in different types of MCD. Lissencephaly-pachygyria and subcortical band heterotopia (SBH) represent a malformative spectrum resulting from mutations of either LIS1 or DCX genes. LIS1 mutations cause a more severe malformation in the posterior brain regions. DCX mutations usually cause anteriorly predominant lissencephaly in males and SBH in female patients. Additional forms are X-linked lissencephaly with corpus callosum agenesis and ambiguous genitalia associated with mutations of the ARX gene. Lissencephaly with cerebellar hypoplasia (LCH) encompass heterogeneous disorders named LCH types a to d. LCHa is related to mutation in LIS1 or DCX, LCHb with mutation of the RELN gene, and LCHd could be related to the TUBA1A gene. Polymicrogyria encompasses a wide range of clinical, etiological, and histological findings. Among several syndromes, recessive bilateral fronto-parietal polymicrogyria has been associated with mutations of the GPR56 gene. Bilateral perisylvian polymicrogyria has been associated with mutations in the SRPX2 gene in a few individuals and with linkage to chromosome Xq28 in a some other families. X-linked bilateral periventricular nodular heterotopia (PNH) consists of PNH with focal epilepsy in females and prenatal lethality in males. Filamin A (FLNA) mutations have been reported in some families and in sporadic patients. It is possible to infer the most likely causative gene by brain imaging studies and other clinical findings. PMID:23622213

  6. Developmental venous anomaly, capillary telangiectasia, cavernous malformation, and arteriovenous malformation: spectrum of a common pathological entity?

    PubMed

    Kalani, M Yashar S; Zabramski, Joseph M; Martirosyan, Nikolay L; Spetzler, Robert F

    2016-03-01

    Vascular malformations of the central nervous system are thought to originate from abnormal developmental processes during embryogenesis. Reports have cited the dynamic nature of these lesions and their "maturation" into other types of malformations. Herein we report on three patients with vascular malformations who exhibited dynamic alterations with stepwise progression of their lesions. These cases lend support to the hypothesis that these malformations may constitute the spectrum of a single disease caused by alterations in a common developmental program and that accumulating injury (e.g., by radiation) may allow one malformation type to mature into another. This concept warrants further investigation. PMID:26743915

  7. Eye development.

    PubMed

    Baker, Nicholas E; Li, Ke; Quiquand, Manon; Ruggiero, Robert; Wang, Lan-Hsin

    2014-06-15

    The eye has been one of the most intensively studied organs in Drosophila. The wealth of knowledge about its development, as well as the reagents that have been developed, and the fact that the eye is dispensable for survival, also make the eye suitable for genetic interaction studies and genetic screens. This article provides a brief overview of the methods developed to image and probe eye development at multiple developmental stages, including live imaging, immunostaining of fixed tissues, in situ hybridizations, and scanning electron microscopy and color photography of adult eyes. Also summarized are genetic approaches that can be performed in the eye, including mosaic analysis and conditional mutation, gene misexpression and knockdown, and forward genetic and modifier screens. PMID:24784530

  8. EYE DEVELOPMENT

    PubMed Central

    Baker, Nicholas E.; Li, Ke; Quiquand, Manon; Ruggiero, Robert; Wang, Lan-Hsin

    2014-01-01

    The eye has been one of the most intensively studied organs in Drosophila. The wealth of knowledge about its development, as well as the reagents that have been developed, and the fact that the eye is dispensable for survival, also make the eye suitable for genetic interaction studies and genetic screens. This chapter provides a brief overview of the methods developed to image and probe eye development at multiple developmental stages, including live imaging, immunostaining of fixed tissues, in situ hybridizations, and scanning electron microscopy and color photography of adult eyes. Also summarized are genetic approaches that can be performed in the eye, including mosaic analysis and conditional mutation, gene misexpression and knockdown, and forward genetic and modifier screens. PMID:24784530

  9. Megadolicho vascular malformation of the intracranial arteries.

    PubMed

    Lodder, J; Janevski, B; van der Lugt, P J

    1981-01-01

    A patient is presented suffering a hemiparesis. Megadolicho-vascular malformation of the intracranial part of the internal carotid arteries and some of its branches and of the basilar artery was suggested by CT and confirmed by angiography. The value of CT compared with angiography in relation to intracranial megadolicho vascular malformations is discussed. PMID:6273040

  10. Cerebral cavernous malformations: from genes to proteins to disease.

    PubMed

    Cavalcanti, Daniel D; Kalani, M Yashar S; Martirosyan, Nikolay L; Eales, Justin; Spetzler, Robert F; Preul, Mark C

    2012-01-01

    Over the past half century molecular biology has led to great advances in our understanding of angio- and vasculogenesis and in the treatment of malformations resulting from these processes gone awry. Given their sporadic and familial distribution, their developmental and pathological link to capillary telangiectasias, and their observed chromosomal abnormalities, cerebral cavernous malformations (CCMs) are regarded as akin to cancerous growths. Although the exact pathological mechanisms involved in the formation of CCMs are still not well understood, the identification of 3 genetic loci has begun to shed light on key developmental pathways involved in CCM pathogenesis. Cavernous malformations can occur sporadically or in an autosomal dominant fashion. Familial forms of CCMs have been attributed to mutations at 3 different loci implicated in regulating important processes such as proliferation and differentiation of angiogenic precursors and members of the apoptotic machinery. These processes are important for the generation, maintenance, and pruning of every vessel in the body. In this review the authors highlight the latest discoveries pertaining to the molecular genetics of CCMs, highlighting potential new therapeutic targets for the treatment of these lesions. PMID:21962164

  11. Eye-movements and ongoing task processing.

    PubMed

    Burke, David T; Meleger, Alec; Schneider, Jeffrey C; Snyder, Jim; Dorvlo, Atsu S S; Al-Adawi, Samir

    2003-06-01

    This study tests the relation between eye-movements and thought processing. Subjects were given specific modality tasks (visual, gustatory, kinesthetic) and assessed on whether they responded with distinct eye-movements. Some subjects' eye-movements reflected ongoing thought processing. Instead of a universal pattern, as suggested by the neurolinguistic programming hypothesis, this study yielded subject-specific idiosyncratic eye-movements across all modalities. Included is a discussion of the neurolinguistic programming hypothesis regarding eye-movements and its implications for the eye-movement desensitization and reprocessing theory. PMID:12929791

  12. Eye Injuries at Home

    MedlinePlus

    ... Patient Stories Español Eye Health / Tips & Prevention Eye Injuries Sections Preventing Eye Injuries Recognizing and Treating Eye ... Sports Eye Injuries by the Numbers — Infographic Eye Injuries at Home Reviewed by: Brenda Pagan-Duran MD ...

  13. Dry Eye

    MedlinePlus

    ... surgery, called punctal cautery, is recommended to permanently close the drainage holes. The procedure helps keep the limited volume of tears on the eye for a longer period of time. In some patients with dry eye, supplements or dietary sources (such as tuna fish) of omega-3 fatty ...

  14. Eye Complications

    MedlinePlus

    ... the cornea, which focuses light while protecting the eye. After light passes through the cornea, it travels through a ... and have them progress faster. With cataracts, the eye's clear lens clouds, blocking light. To help deal with mild cataracts, you may ...

  15. Pathogenesis of Brain Arteriovenous Malformations

    PubMed Central

    KOMIYAMA, Masaki

    2016-01-01

    Brain arteriovenous malformations (bAVMs) represent a high risk of intracranial hemorrhages, which are substantial causes of morbidity and mortality of bAVMs, especially in children and young adults. Although a variety of factors leading to hemorrhages of bAVMs are investigated extensively, their pathogenesis is still not well elucidated. The author has reviewed the updated data of genetic aspects of bAVMs, especially focusing on clinical and experimental knowledge from hereditary hemorrhagic telangiectasia, which is the representative genetic disease presenting with bAVMs caused by loss-of-function in one of the two genes: endoglin and activin receptor-like kinase 1. This knowledge may allow us to infer the pathogensis of sporadic bAVMs and in the development of new medical therapies for them. PMID:27076383

  16. CHARGE association in Sweden: malformations and functional deficits.

    PubMed

    Strömland, Kerstin; Sjögreen, Lotta; Johansson, Maria; Ekman Joelsson, Britt-Marie; Miller, Marilyn; Danielsson, Susanna; Billstedt, Eva; Gillberg, Christopher; Jacobsson, Catharina; Norinder, Jan Andersson; Granström, Gösta

    2005-03-15

    CHARGE association (CA) consists of a non-random association of ocular coloboma (C), heart anomaly (H), atresia of choanae (A), retarded growth and/or development (R), genital hypoplasia (G), and ear anomalies and/or hearing impairment (E). A prospective multidisciplinary study of 31 Swedish patients with CA was undertaken in order to describe the associated malformations and functional deficits, find possible etiological factors and identify critical time periods for the maldevelopment. The clinical files were analyzed, the mothers answered a questionnaire on history of prenatal events, and a clinical evaluation of systemic findings, vision, hearing, balance, speech, oral and swallowing function, and neuro-psychiatric function, especially autism, was performed. The most frequent physical abnormalities affected ears (90%), eyes (90%), brain (61%), heart (52%), retarded growth (48%), genitals (38%), choanae (35%), and facial nerve (32%). Sixty-one percent of the patients were visually impaired or blind, and 74% had hearing loss or deafness. Problems in balance, speech, and eating were common. Forty percent of the patients had autism/atypical autism, and 82% had developmental delay. Three children were born following assisted fertilization and two mothers had diabetes. The mothers reported infections, bleedings, and drug use during pregnancy. Analysis of possible critical time periods suggested that most malformations were produced early in pregnancy, mainly during post conceptual weeks 4, 5, and 6. A multidisciplinary approach is essential in the assessment and management of CA. PMID:15633180

  17. Advanced Imaging of Chiari 1 Malformations.

    PubMed

    Fakhri, Akbar; Shah, Manish N; Goyal, Manu S

    2015-10-01

    Type I Chiari malformations are congenital deformities involving cerebellar tonsillar herniation downward through the foramen magnum. Structurally, greater than 5 mm of tonsillar descent in adults and more than 6 mm in children is consistent with type I Chiari malformations. However, the radiographic severity of the tonsillar descent does not always correlate well with the clinical symptomatology. Advanced imaging can help clinically correlate imaging to symptoms. Specifically, cerebrospinal fluid (CSF) flow abnormalities are seen in patients with type I Chiari malformation. Advanced MRI involving cardiac-gated and phase-contrast MRI affords a view of such CSF flow abnormalities. PMID:26408061

  18. Vascular Malformations: Approach by an Interventional Radiologist

    PubMed Central

    Pimpalwar, Sheena

    2014-01-01

    Children with vascular malformations are best managed with a multidisciplinary team of specialists. Interventional radiology may deliver primary treatment such as staged sclerotherapy and embolization for malformations that are poor candidates for primary surgical resection or play a supportive role such as preoperative or intraoperative embolization. A thorough understanding of vascular morphology and flow dynamics is imperative to choosing the best treatment tool and technique. In this review, the author discusses the selection of techniques and tools used to treat vascular malformations based on their angiographic morphology. PMID:25045335

  19. Fallout from the Chernobyl nuclear disaster and congenital malformations in Europe.

    PubMed

    Hoffmann, W

    2001-01-01

    Investigators estimate that the population exposure that resulted from the Chernobyl fallout is in the range of natural background radiation for most European countries. Given current radiobiologic knowledge, health effects-if any-would not be measurable with epidemiologic tools. In several independent reports, however, researchers have described isolated peaks in the prevalence of congenital malformations in the cohort conceived immediately after onset of the fallout. The consistency of the time pattern and the specific types of malformation raise concern about their significance. In this study, the author summarizes findings from Turkey, Belarus, Croatia, Finland, Germany, and other countries, and implications for radiation protection and public health issues are discussed. PMID:11958546

  20. Healthy Eyes

    MedlinePlus

    ... Programs Training and Jobs Home > Healthy Eyes Healthy Vision Diabetes Diabetes Home How Much Do You Know? ... seeing your best. Read more. What are common vision problems? Some of the most common vision problems ...

  1. Eye Allergies

    MedlinePlus

    ... MD Mar. 01, 2015 Eye allergies, called allergic conjunctivitis , are a common condition that occurs when the ... with tearing and burning. Unlike bacterial or viral conjunctivitis, allergic conjunctivitis is not spread from person to ...

  2. Eye emergencies

    MedlinePlus

    ... and there is a good chance of recovery. Alkaline substances -- such as lime, lye, drain cleaners, and ... at high speed by machining, grinding, or hammering metal have the highest risk of injuring the eye. ...

  3. Eye Infections

    MedlinePlus

    ... Health Issues Conditions Abdominal ADHD Allergies & Asthma Autism Cancer Chest & Lungs Chronic Conditions Cleft & Craniofacial Developmental Disabilities Ear Nose & Throat Emotional Problems Eyes Fever From Insects or Animals Genitals and Urinary Tract Glands & Growth ...

  4. Black Eye

    MedlinePlus

    ... Aug 30, 2016 Toddlers Most at Risk of Chemical Burns to Eyes Aug 26, 2016 Firework Blinds Teenager, Severs Hand Jun 29, ... at the Academy Financial Relationships with Industry Medical Disclaimer Privacy Policy Terms of Service For ...

  5. Update on the management of anorectal malformations.

    PubMed

    Bischoff, Andrea; Levitt, Marc A; Peña, Alberto

    2013-09-01

    Thirty-three years ago, on 10 August 1980, in Mexico City, the first patient with an anorectal malformation was operated on using the posterior sagittal approach. At that time it was not obvious that we were actually opening a "Pandora's box" that continues to give many positive surprises, a few disappointments, and the constant hope that each day we can learn more about how to improve the quality of life of children born with all different types of anorectal malformations. In November 2012, patient number 3000 in our database was operated in the city of Cochabamba, Bolivia; during one of our International Courses of Anorectal Malformations and Colorectal Problems in Children. The goal of this article is to give a brief update on the current management of patients with anorectal malformation, based on the multiple lessons learned during this period. PMID:23913263

  6. Revision surgery for Chiari malformation decompression.

    PubMed

    Mazzola, Catherine A; Fried, Arno H

    2003-09-15

    Chiari malformations comprise four different hindbrain anomalies originally described by Hans Chiari, a professor of pathology at the German University in Prague. There are four basic Chiari malformations. The reasons for revision of Chiari malformation decompression may be for conservative or inadequate initial decompression or the development of postoperative complications. Another reason involves cases of both hindbrain herniation and syringomyelia in patients who have undergone adequate posterior fossa decompression without resolution of symptoms, signs, or radiological appearance of their syrinx cavity. Additionally, symptom recurrence has been reported in association with various types of dural grafts. Reoperation or revision surgery for patients with Chiari malformations is common and may not be due to technical error or inadequate decompression. The types of revision surgeries, their indications, and initial presentations will be reviewed. PMID:15347221

  7. Malformation and plastic surgery in childhood

    PubMed Central

    Siegert, Ralf; Magritz, Ralph

    2014-01-01

    Malformations of the head and neck show a huge variety of clinical symptoms with functional and esthetic consequences. Often times its rehabilitation requires multi-staged and multi-disciplinary procedures and concepts. These must consider eating, speech, mimic expression, hearing and “esthetics” or at least “normality”. A survey of the most common head and neck malformations and their treatment options are presented here. PMID:25587361

  8. The Microcephaly-Capillary Malformation Syndrome

    PubMed Central

    Mirzaa, Ghayda M.; Paciorkowski, Alex R.; Smyser, Christopher D.; Willing, Marcia C.; Lind, Anne C.; Dobyns, William B.

    2012-01-01

    We report on three children from two families with a new pattern recognition malformation syndrome consisting of severe congenital microcephaly (MIC), intractable epilepsy including infantile spasms, and generalized capillary malformations that was first reported recently in this journal [Carter et al. (2011); Am J Med Genet A 155: 301–306]. Two of our reported patients are an affected brother and sister, suggesting this is an autosomal recessive severe congenital MIC syndrome. PMID:21815250

  9. Spontaneous arteriovenous malformations in the cervical area

    PubMed Central

    Greenberg, J.

    1970-01-01

    Four patients with spontaneous arteriovenous malformations of cervical vessels have been presented. The embryology of these vessels has been discussed in order to suggest an explanation for the apparent difference in the incidence of arteriovenous malformations involving the internal carotid artery and those involving either the vertebral or the external carotid arteries. A fifth case (S.T.) is presented as a probable iatrogenic arteriovenous fistula and is to be added to the steadily growing reports of this phenomenon. Images PMID:5431722

  10. Aging and Your Eyes

    MedlinePlus

    ... Your Eyes Heath and Aging Aging and Your Eyes Steps to Protect Your Eyesight Common Eye Problems ... weight can also help protect your vision. Common Eye Problems The following common eye problems can be ...

  11. Lymphangiosarcoma complicating extensive congenital mixed vascular malformations.

    PubMed

    Al Dhaybi, Rola; Agoumi, Mehdi; Powell, Julie; Dubois, Josée; Kokta, Victor

    2010-09-01

    Pediatric hepatic angiosarcoma is a very rare malignant vascular tumor. A few cases have shown pediatric hepatic angiosarcoma occurring on a background of preexisting vascular lesions. We report the case of a newborn girl who presented extensive limbs and upper trunk cutaneous mixed vascular malformations at birth. These malformations were associated with thrombocytopenia. Cutaneous biopsies revealed complex vascular malformations with a significant lymphatic component. Compressive body suit therapy led to regression of the limbs' cutaneous vascular malformations. At the age of 9 months, the patient presented multiple heterogeneous hepatosplenic nodules. Aggressive treatment with prednisone, vincristine, and hepatosplenic embolizations resulted in initial improvement of the hepatosplenic lesions for few months, followed by an increase of the lesions with failure of response to treatment despite adding alpha-interferon-2b to treatment. The patient died at the age of 19 months. The autopsy's pathological examination revealed a hepatic-based angiosarcoma with plurimetastatic dissemination to the spleen, lungs, peritoneum, pleura, mesenteric linings as well as the serosa of the stomach and small intestine. Multiple cutaneous and visceral complex capillaro-lymphatico-venous malformations were also identified. We hypothesize that these multiple extensive mixed vascular malformations were associated with chronic lymphedema which probably predisposed to the development of the angiosarcoma in our patient. PMID:20863270

  12. Venous Malformation: update on etiopathogenesis, diagnosis & management

    PubMed Central

    Dompmartin, Anne; Vikkula, Miikka; Boon, Laurence M

    2011-01-01

    The aim of this review was to discuss the current knowledge on etiopathogenesis, diagnosis and therapeutic management of venous malformations. Venous malformations (VMs) are slow-flow vascular anomalies. They are simple, sporadic or familial (cutaneo-mucosal venous malformation or glomuvenous malformations), combined (e.g. capillaro-venous, capillaro-lymphaticovenous malformations) or syndromic (Klippel-Trenaunay, Blue Rubber Bleb Naevus and Maffucci). Genetic studies have identified causes of familial forms and of 40% of sporadic VMs. Another diagnostic advancement is the identification of elevated D-dimer level as the first biomarker of venous malformations within vascular anomalies. Those associated with pain are often responsive to Low Molecular Weight Heparin which should also be used to avoid disseminated intravascular coagulopathy secondary to intervention, especially if fibrinogen level is low. Finally, development of a modified sclerosing agent, ethylcellulose–ethanol, has improved therapy. It is efficient and safe, and widens indications for sclerotherapy to sensitive and dangerous areas such as hands, feet and periocular area. PMID:20870869

  13. Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

    PubMed Central

    Lalani, Seema R; Shaw, Chad; Wang, Xueqing; Patel, Ankita; Patterson, Lance W; Kolodziejska, Katarzyna; Szafranski, Przemyslaw; Ou, Zhishuo; Tian, Qi; Kang, Sung-Hae L; Jinnah, Amina; Ali, Sophia; Malik, Aamir; Hixson, Patricia; Potocki, Lorraine; Lupski, James R; Stankiewicz, Pawel; Bacino, Carlos A; Dawson, Brian; Beaudet, Arthur L; Boricha, Fatima M; Whittaker, Runako; Li, Chumei; Ware, Stephanie M; Cheung, Sau Wai; Penny, Daniel J; Jefferies, John Lynn; Belmont, John W

    2013-01-01

    Clinically significant cardiovascular malformations (CVMs) occur in 5–8 per 1000 live births. Recurrent copy number variations (CNVs) are among the known causes of syndromic CVMs, accounting for an important fraction of cases. We hypothesized that many additional rare CNVs also cause CVMs and can be detected in patients with CVMs plus extracardiac anomalies (ECAs). Through a genome-wide survey of 203 subjects with CVMs and ECAs, we identified 55 CNVs >50 kb in length that were not present in children without known cardiovascular defects (n=872). Sixteen unique CNVs overlapping these variants were found in an independent CVM plus ECA cohort (n=511), which were not observed in 2011 controls. The study identified 12/16 (75%) novel loci including non-recurrent de novo 16q24.3 loss (4/714) and de novo 2q31.3q32.1 loss encompassing PPP1R1C and PDE1A (2/714). The study also narrowed critical intervals in three well-recognized genomic disorders of CVM, such as the cat-eye syndrome region on 22q11.1, 8p23.1 loss encompassing GATA4 and SOX7 and 17p13.3-p13.2 loss. An analysis of protein-interaction databases shows that the rare inherited and de novo CNVs detected in the combined cohort are enriched for genes encoding proteins that are direct or indirect partners of proteins known to be required for normal cardiac development. Our findings implicate rare variants such as 16q24.3 loss and 2q31.3-q32.1 loss, and delineate regions within previously reported structural variants known to cause CVMs. PMID:22929023

  14. Mimosa tenuiflora as a cause of malformations in ruminants in the northeastern Brazilian semiarid rangelands.

    PubMed

    Pimentel, L A; Correa, F Riet; Gardner, D; Panter, K E; Dantas, A F M; Medeiros, R M T; Mota, R A; Araújo, J A S

    2007-11-01

    Craniofacial anomalies, eye malformations, and permanent flexures of the forelimbs are common malformations seen in ruminants grazing semiarid rangelands of Northeastern Brazil. To investigate the cause of these malformations, we fed 2 suspected plants, Mimosa tenuiflora or Prosopis juliflora, to groups of 4 pregnant goats each. Fresh green M. tenuiflora was collected daily and fed ad libitum to 4 goats in group 1 throughout pregnancy. This treatment group also received a supplemental feed concentrate equivalent to 1% body weight. Four goats in group 2 received a ration with 70% of P. juliflora pods and 30% hay throughout pregnancy. Four control goats were fed supplemental feed concentrate (1% body weight) and hay ad libitum throughout pregnancy. Goats treated with P. juliflora pods and the control goats delivered 9 normal kids. The four goats that were fed M. tenuiflora during pregnancy delivered 4 kids, 3 of which had abnormalities similar to those observed in field cases, including cleft lip, unilateral corneal opacity, ocular bilateral dermoids, buphthalmos with a cloudy brownish appearance of the anterior chamber due to an iridal cyst, and segmental stenosis of the colon. Malformations induced experimentally by M. tenuiflora were similar to those observed in field cases, suggesting that M. tenuiflora is a cause of the field cases observed in the Brazilian semiarid rangelands. PMID:18039908

  15. Eye tracker.

    PubMed

    Pruehsner, W; Enderle, J D

    1999-01-01

    A device that records saccadic eye movements, the Eye Tracker, is presented in this paper. The Eye Tracker utilizes infra-red technology mounted on fully adjustable goggles to follow eye movements targeted by either a goggles mounted HUD type display or a wall mounted light bank. Output from the goggles is remotely sent to a PC type computer, which leads to device portability. The goggles can also maintain output data in an internal memory for latter download. The user interface is Windows based with the output from the goggles represented as a trace map or plotted points. This output can also be saved or printed for future reference. The user interface can be used on any PC type computer. The device is designed with reference to standard ISO design methodology. Safety in design and final product usage has also been addressed with reference to standard ISO type procedures. Device accuracy is maintained by precise construction of the IR units in the goggles and tight control of cross talk between each IR device plus filtering of ambient light signals. Also, a reset feature is included to maintain equal baseline control. An automatic switching device is included in the goggles to allow the Eye Tracker to "warm up," assuring that equal IR power is delivered for each subject tested. The IR units in the goggles are also modular in case replacement is required. PMID:11143354

  16. Surgical management of arteriovenous malformation.

    PubMed

    Visser, Anniek; FitzJohn, Trevor; Tan, Swee T

    2011-03-01

    This article presents our experience in managing a series of consecutive patients with arteriovenous malformation (AVM) referred to our Vascular Anomalies Centre over a 14-year period. These patients were culled from our prospective Vascular Anomalies Database 1996-2010. The medical records of these patients were reviewed to supplement the data collected. Out of 1131 patients with vascular anomalies, 53 patients (22 males, 31 females) with AVM were identified. Their mean age was 29 (range: 3-88) years with 14 stage-III, 34 stage-II and five stage-I AVMs, affecting the head and neck area (n=32), lower limb (n=13), upper limb (n=7) and trunk (n=1). Eight patients with eight stage-III and 14 patients with 15 stage-II AVMs underwent definitive surgery following preoperative embolisation in 10 patients. Seventeen patients required reconstruction with free flaps (n=8) or local or regional flaps (n=9), tissue expansion (n=4), tendon recession (n=1), tendon transfer (n=1), osseo-integration (n=1) and skin grafting (n=5). Fourteen patients required a combination of reconstructive techniques. During an average follow-up of 54 (range: 10-135) months, two (8.7%) lesions recurred but were improved following surgery. One patient with life-threatening stage-III AVM underwent 'palliative' surgery following preoperative embolisation and the lesion had improved and remained stable during the 4-year follow-up period. AVM is a challenging clinical problem that requires a multidisciplinary team approach. Complete surgical excision remains the gold-standard treatment and immediate reconstruction is an integral part of definitive surgery for AVM. The heterogeneous nature of AVM requires treatment to be tailored for individual patients and the complex excision defects necessitate expertise in a variety of reconstructive techniques. Our experience shows a recurrence rate of 8.7% following definitive surgery for AVM. PMID:20663728

  17. Spectrum of urorectal septum malformation sequence.

    PubMed

    Shah, Krupa; Nayak, Shalini S; Shukla, Anju; Girisha, Katta M

    2016-05-01

    Urorectal septum malformation sequence (URSMS) is a rare spectrum of malformations involving various organ systems. Here, we present eight cases of URSMS, noted in autopsy, with different degrees of complexity, seven being the complete type and one being the partial type. All cases had gastrointestinal tract malformation in the form of the imperforate anus and indeterminate genitalia. Other gastrointestinal tract anomalies were anal agenesis in two cases, anorectal agenesis in two cases, and malformed lower intestinal tract in four cases. The associated renal abnormality was noted in five cases, which were unilateral renal agenesis, dysplastic kidney, hydronephrosis, horseshoe kidney, and unilateral hypoplastic ectopic kidney. External genital malformation, present in both male and female fetuses, included a knob-like structure at perineum in female fetuses, genital fold hypoplasia and penile aplasia or hypoplasia in male fetuses. Skeletal abnormalities included two cases of sacral agenesis and one case of lumbosacral dysraphism. Other anomalies included a case with alobar holoprosencephaly, truncus arteriosus with hypoplastic lungs in one case, and three cases with abdominal wall defects. It is our attempt to delineate a spectrum of abnormalities associated with URSMS. PMID:26663027

  18. Eye and orbit ultrasound

    MedlinePlus

    Echography - eye orbit; Ultrasound - eye orbit; Ocular ultrasonography; Orbital ultrasonography ... ophthalmology department of a hospital or clinic. Your eye is numbed with medicine (anesthetic drops). The ultrasound ...

  19. A crab with three eyes, two rostra, and a dorsal antenna-like structure.

    PubMed

    Scholtz, Gerhard; Ng, Peter K L; Moore, Stephen

    2014-03-01

    We describe a malformed specimen of the freshwater crab Amarinus lacustris from New Zealand. With three eyes in a horizontal row, two rostra, and a dorsal antenna-like structure, the pattern of malformation of this animal is unique and has not been described before. A careful inspection and description of external and internal structures, in particular the central nervous system, were carried out. These revealed, in addition to the external abnormalities, a retarded brain with a hypertrophied and backwards bent protocerebrum connected with all three eyes and putatively with the dorsal antenna-like structure. Based on these data, a variety of hypotheses about the causes for this kind of malformation are discussed. A scenario combining a conjoined twin (Duplicitas anterior) based on the duplication of the embryonic anterior head lobes and a regeneration event leading to the replacement of an eye by an antenna shows the best fit to the observed patterns. PMID:24211269

  20. Meningitis after cochlear implantation in Mondini malformation.

    PubMed

    Page, E L; Eby, T L

    1997-01-01

    Although the potential for CSF leakage and subsequent meningitis after cochlear implantation in the malformed cochlea has been recognized, this complication has not been previously reported. We report a case of CSF otorhinorrhea and meningitis after minor head trauma developing 2 years after cochlear implantation in a child with Mondini malformation. Leakage of CSF was identified from the cochleostomy around the electrode of the implant, and this leak was sealed with a temporalis fascia and muscle plug. Although this complication appears to be rare, care must be taken to seal the cochleostomy in children with inner ear malformations at the initial surgery, and any episode of meningitis after surgery must be thoroughly investigated to rule out CSF leakage from the labyrinth. PMID:9018266

  1. Sex hormone exposure during pregnancy and malformations.

    PubMed

    Briggs, M H; Briggs, M

    1979-01-01

    This general review of the effects of exposure to sex hormones during pregnancy and subsequent fetal malformation presents summaries of animal studies, develops the data indicating virilization and feminization in humans, documents chromosome abnormalities, and presents data on the connection of steroid exposure in utero and somatic malformations. Fetal exposure can occur 3 different ways, through hormonal pregnancy test, via obstetrical use of hormones, or because of continued maternal use of oral contraceptives after conception. In the latter case, an ongoing prospective study indicates that accidental ingestion of oral contraceptives after conception is not harmful to the fetus if taken during early pregnancy. Tables present summaries of numerous large surveys and retrospective studies linking particular sex hormones (exogenous) to particular fetal malformations including neural tube defects and other constellations of developmental problems. The question of exogenous hormone effects on the personality of infants who were exposed in utero is addressed. PMID:400321

  2. Anorectal Malformation: Paediatric Problem Presenting in Adult.

    PubMed

    Chavan, Rahulkumar N; Chikkala, Bhargav; Das, Cinjini; Biswas, Somak; Sarkar, Diptendra Kumar; Pandey, Sushil Kumar

    2015-01-01

    This is a case report of 22-year-old girl admitted with abdominal distension, vomiting, and chronic constipation since birth. Abdomen was distended, and perineal examination revealed imperforate anus with vestibular fistula (ARM). So far worldwide very few cases have been reported about anorectal malformation presenting in adulthood, and thus extremely little data is available in the literature about an ideal management of anorectal malformation in adults. In our case in the treatment instead of conventional procedure of posterior sagittal anorectoplasty (PSARP) anal transposition was done and till two years after the definitive treatment during follow-up patient has been doing well with Kelly's score of six. Our experience suggests that anal transposition provides satisfactory outcome in adults presenting late with anorectal malformation. PMID:26539301

  3. Anorectal Malformation: Paediatric Problem Presenting in Adult

    PubMed Central

    Chavan, Rahulkumar N.; Chikkala, Bhargav; Das, Cinjini; Biswas, Somak; Sarkar, Diptendra Kumar; Pandey, Sushil Kumar

    2015-01-01

    This is a case report of 22-year-old girl admitted with abdominal distension, vomiting, and chronic constipation since birth. Abdomen was distended, and perineal examination revealed imperforate anus with vestibular fistula (ARM). So far worldwide very few cases have been reported about anorectal malformation presenting in adulthood, and thus extremely little data is available in the literature about an ideal management of anorectal malformation in adults. In our case in the treatment instead of conventional procedure of posterior sagittal anorectoplasty (PSARP) anal transposition was done and till two years after the definitive treatment during follow-up patient has been doing well with Kelly's score of six. Our experience suggests that anal transposition provides satisfactory outcome in adults presenting late with anorectal malformation. PMID:26539301

  4. Nutrients for the aging eye

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The incidence of age-related eye diseases is expected to rise with the aging of the population. Oxidation and inflammation are implicated in the etiology of these diseases. There is evidence that dietary antioxidants and anti-inflammatories may provide benefit in decreasing the risk of age-related e...

  5. Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

    SciTech Connect

    Cornelis, F.; Neuville, A.; Labreze, C.; Kind, M.; Bui, B.; Midy, D.; Palussiere, J.; Grenier, N.

    2013-06-15

    The present report describes a case of percutaneous cryotherapy in a 36-year-old woman with a large and painful pectoral venous malformation. Cryoablation was performed in a single session for this 9-cm mass with 24 h hospitalisation. At 2- and 6-month follow-up, the pain had completely disappeared, and magnetic resonance imaging demonstrated a significant decrease in size. Percutaneous cryoablation shows promise as a feasible and apparently safe method for local control in patients with symptomatic venous vascular malformations.

  6. Retroperitoneal vascular malformation mimicking incarcerated inguinal hernia.

    PubMed

    Dubey, Indu Bhushan; Sharma, Anuj; Singh, Ajay Kumar; Mohanty, Debajyoti

    2011-01-01

    A 30-year-old man presented to the Department of Surgery with a painful groin swelling on right side. Exploration revealed a reddish-blue hemangiomatous mass in the scrotum extending through inguinal canal into the retroperitoneum. On further dissection swelling was found to be originating from right external iliac vein. The swelling was excised after ligating all vascular connections. The histopathological examination of excised mass confirmed the diagnosis of venous variety of vascular malformation. This is the first reported case of vascular malformation arising from retroperitoneum and extending into inguinoscrotal region, presenting as incarcerated inguinal hernia. PMID:21633582

  7. Congenital Malformations Leading to Paradoxical Embolism.

    PubMed

    Bruckheimer, Elchanan

    2016-05-01

    The absolute separation of the right and left circulations and the filtration of blood by the pulmonary circulation are essential to prevent the passage of thrombotic material from the venous system into the systemic arterial circulation. Any breach of the intracardiac septae or circumvention of the pulmonary capillary network may cause a paradoxical embolus. The most common causes are atrial septal defects and pulmonary arteriovenous malformations. This article discusses unusual connections and pathways related to congenital malformations. Although anticoagulation is necessary to prevent paradoxical emboli, the hematologic disturbances and the most appropriate therapy in these patients warrant further investigation. PMID:27150173

  8. Mayer-Rokitansky syndrome and anorectal malformation.

    PubMed

    Patankar, Shreeprasad P; Kalrao, Vijay; Patankar, Shilpa S

    2004-12-01

    Mayer Rokitansky Kuster Houser syndrome (MRKH syndrome) is characterized by Mullerian duct structures agenesis, vaginal atresia being the commonest variant. It can be associated with renal, skeletal, spine and other malformations. Patient with Mayer Rokitansky syndrome has a varied presentation from newborn period to adolescence. Thorough investigations are required for classification of the syndrome and diagnosis of associated anomalies. The MRKH syndrome patient may require complex vaginal reconstructive surgery and a detailed counseling about the potentials of menstruation and fertility. Here we are presenting a patient having association of anorectal malformation, Mullerian duct agenesis and renal anomaly. PMID:15630325

  9. Dilating Eye Drops

    MedlinePlus

    ... Conditions Most Common Searches Adult Strabismus Amblyopia Cataract Conjunctivitis Corneal Abrasions Dilating Eye Drops Lazy eye (defined) ... Loading... Most Common Searches Adult Strabismus Amblyopia Cataract Conjunctivitis Corneal Abrasions Dilating Eye Drops Lazy eye (defined) ...

  10. Eye muscle repair - discharge

    MedlinePlus

    ... Lazy eye repair - discharge; Strabismus repair - discharge; Extraocular muscle surgery - discharge ... You or your child had eye muscle repair surgery to correct eye muscle ... term for crossed eyes is strabismus. Children most often ...

  11. Eye Movement Disorders

    MedlinePlus

    ... t work properly. There are many kinds of eye movement disorders. Two common ones are Strabismus - a disorder ... of the eyes, sometimes called "dancing eyes" Some eye movement disorders are present at birth. Others develop over ...

  12. Why Do Eyes Water?

    MedlinePlus

    ... Help White House Lunch Recipes Why Do Eyes Water? KidsHealth > For Kids > Why Do Eyes Water? Print ... out of your nose. continue Why Do Eyes Water? Eyes water for lots of different reasons besides ...

  13. Viewing condition dependence of the gaze-evoked nystagmus in Arnold Chiari type 1 malformation.

    PubMed

    Ghasia, Fatema F; Gulati, Deepak; Westbrook, Edward L; Shaikh, Aasef G

    2014-04-15

    Saccadic eye movements rapidly shift gaze to the target of interest. Once the eyes reach a given target, the brainstem ocular motor integrator utilizes feedback from various sources to assure steady gaze. One of such sources is cerebellum whose lesion can impair neural integration leading to gaze-evoked nystagmus. The gaze evoked nystagmus is characterized by drifts moving the eyes away from the target and a null position where the drifts are absent. The extent of impairment in the neural integration for two opposite eccentricities might determine the location of the null position. Eye in the orbit position might also determine the location of the null. We report this phenomenon in a patient with Arnold Chiari type 1 malformation who had intermittent esotropia and horizontal gaze-evoked nystagmus with a shift in the null position. During binocular viewing, the null was shifted to the right. During monocular viewing, when the eye under cover drifted nasally (secondary to the esotropia), the null of the gaze-evoked nystagmus reorganized toward the center. We speculate that the output of the neural integrator is altered from the bilateral conflicting eye in the orbit position secondary to the strabismus. This could possibly explain the reorganization of the location of the null position. PMID:24559612

  14. Neurodevelopmental malformations of the cerebellar vermis in genetically engineered rats

    EPA Science Inventory

    The cerebellar vermis is particularly vulnerable to neurodevelopmental malformations in humans and rodents. Sprague-Dawley, and Long-Evans rats exhibit spontaneous cerebellar malformations consisting of heterotopic neurons and glia in the molecular layer of the vermis. Malformati...

  15. [Lymphatic malformations in the head and neck area].

    PubMed

    Wiegand, S; Werner, J A

    2016-02-01

    Lymphatic malformations are congenital malformations of the lymphatic system. They are mainly located in the head and neck area, and grow proportional to the patients' body growth. Depending on the morphology, it can be distinguished between macrocystic, microcystic and mixed lymphatic malformations. Due to their infiltrative growth, microcystic lymphatic malformations are particularly difficult to treat. Therapeutic approaches include conventional surgical resection, laser therapy, sclerotherapy and systemic drug therapies. PMID:26820157

  16. Acquired pulmonary arteriovenous malformation secondary to hydatid cyst operation.

    PubMed

    Gezer, S; Turut, H; Oz, G; Demirag, F; Tastepe, I

    2007-10-01

    Pulmonary arteriovenous malformations are abnormal communications between pulmonary arteries and pulmonary veins. The majority of the cases are congenital in origin, and acquired pulmonary arteriovenous malformations are very rare. We present a case here, which - to the best of our knowledge - is the first acquired pulmonary arteriovenous malformation secondary to a hydatid cyst operation in the literature, and we discuss the etiology, clinical presentation, diagnostic modalities and treatment of acquired pulmonary arteriovenous malformations. PMID:17902072

  17. Coexistent arteriovenous malformation and hippocampal sclerosis.

    PubMed

    Prayson, Richard A; O'Toole, Elizabeth E

    2016-06-01

    Cavernous angiomas or cavernomas have been occasionally described in patients presenting with medically intractable epilepsy. Reports of cavernomas associated with a second pathology potentially causative of seizures have rarely been documented; most commonly, the second pathology is focal cortical dysplasia or less frequently, hippocampal sclerosis. To our knowledge, cases of arteriovenous malformation arising in this clinical setting and associated with hippocampal sclerosis have not been previously described. We report a 56-year-old woman who initially presented at age 24years with staring spells. Imaging studies revealed an arteriovenous malformation in the right parietal lobe. At age 51years, she represented with signs and symptoms related to a hemorrhage from the malformation. The patient underwent Gamma Knife radiosurgery (Elekta AB, Stockholm, Sweden) of the lesion. She subsequently developed seizures, refractory to medical management. MRI studies showed atrophy in the right hippocampus. She underwent resection of the right parietal lobe and hippocampus. Histopathologic examination of the right parietal lesion revealed an arteriovenous malformation marked by focally prominent vascular sclerosis, calcification and adjacent hemosiderin deposition. The hippocampus was marked by prominent neuronal loss and gliosis in the CA1 region, consistent with CA1 sclerosis or hippocampal sclerosis International League Against Epilepsy type 2. PMID:26899356

  18. Genetic basis of congenital cardiovascular malformations

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Cardiovascular malformations are a singularly important class of birth defects and due to dramatic improvements in medical and surgical care, there are now large numbers of adult survivors. The etiologies are complex, but there is strong evidence that genetic factors play a crucial role. Over the la...

  19. Congenital vascular malformations in scintigraphic evaluation

    PubMed Central

    Pilecki, Stanisław; Gierach, Marcin; Gierach, Joanna; Świętaszczyk, Cyprian; Junik, Roman; Lasek, Władysław

    2014-01-01

    Summary Background Congenital vascular malformations are tumour-like, non-neoplastic lesions caused by disorders of vascular tissue morphogenesis. They are characterised by a normal cell replacement cycle throughout all growth phases and do not undergo spontaneous involution. Here we present a scintigraphic image of familial congenital vascular malformations in two sisters. Material/Methods A 17-years-old young woman with a history of multiple hospitalisations for foci of vascular anomalies appearing progressively in the upper and lower right limbs, chest wall and spleen. A Parkes Weber syndrome was diagnosed based on the clinical picture. Due to the occurrence of new foci of malformations, a whole-body scintigraphic examination was performed. A 12-years-old girl reported a lump in the right lower limb present for approximately 2 years, which was clinically identified as a vascular lesion in the area of calcaneus and talus. Phleboscintigraphy visualized normal radiomarker outflow from the feet via the deep venous system, also observed in the superficial venous system once the tourniquets were released. In static and whole-body examinations vascular malformations were visualised in the area of the medial cuneiform, navicular and talus bones of the left foot, as well as in the projection of right calcaneus and above the right talocrural joint. Conclusions People with undiagnosed disorders related to the presence of vascular malformations should undergo periodic follow-up to identify lesions that may be the cause of potentially serious complications and to assess the results of treatment. Presented scintigraphic methods may be used for both diagnosing and monitoring of disease progression. PMID:24567769

  20. Effects of magnetic resonance imaging on eye development in the C57BL/6J mouse

    SciTech Connect

    Tyndall, D.A.; Sulik, K.K. )

    1991-03-01

    An investigation was undertaken to ascertain the potential teratogenicity of magnetic resonance imaging (MRI) fields. The C57BL/6J mouse was chosen as the experimental model with eye malformations (microphthalmia and morphologic anomalies) designated as the biological end point. This mouse strain is genetically predisposed to this type of malformation as a 10% spontaneous incidence occurs. Dams in groups of 15 were subjected to MRI imaging conditions on gestational day (Gd) 7 for 36 minutes to a spin-echo T-2-weighted scan by using a 1.5 Tesla magnetic field and a radiofrequency (RF) field of 64 MHz. One group was exposed at the magnetic isocenter while another was exposed at the entrance to the magnet lumen. There was also a sham control group. The dams were sacrificed at Gd 14. Assessment of eye abnormality was determined by, (1) a veterinary ophthalmologist, (2) a computer-based method comparing eye areas, and (3) a methodology combining both the above subjective and quantitative methods. MRI fields were found to produce malformation rates (15-37%) higher than controls (2-19% P less than or equal to .05, Kruskal-Wallis Test) for both isocenter and lumen entrance groups. The malformation rates and degree of statistical significance varied somewhat with analytical methodology and the unit of measure (right eye, left eye, or fetus). The results suggest for the first time the potential of MRI fields to produce developmental malformations in an animal model utilizing clinically realistic exposure conditions. (However, the reader is remained that the mouse strain utilized in this investigation was genetically prone to malformations).

  1. RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation

    PubMed Central

    Flore, Leigh Anne; Leon, Eyby; Maher, Tom A.; Milunsky, Jeff M.

    2012-01-01

    Capillary malformation-arteriovenous malformation (CM-AVM; MIM 60354) is an autosomal dominant disorder characterized by multifocal cutaneous capillary malformations, often in association with fast-flow vascular lesions, which may be cutaneous, subcutaneous, intramuscular, intraosseus, or cerebral arteriovenous malformations or arteriovenous fistulas. CM-AVM results from heterozygous mutations in the RASA1 gene. Capillary malformations of the skin are common, and clinical examination alone may not be able to definitively diagnose-or exclude- CM-AVM. We report a family in which the proband was initially referred for a genetic evaluation in the neonatal period because of the presence of a cardiac murmur and minor dysmorphic features. Both he and his mother were noted to have multiple capillary malformations on the face, head, and extremities. Echocardiography revealed dilated head and neck vessels and magnetic resonance imaging and angiography of the brain revealed a large infratentorial arteriovenous fistula, for which he has had two embolization procedures. RASA1 sequence analysis revealed a heterozygous mutation, confirming his diagnosis of CM-AVM. We established targeted mutation analysis for the proband's mother and sister, the latter of whom is a healthy 3-year-old whose only cutaneous finding is a facial capillary malformation. This revealed that the proband's mother is also heterozygous for the RASA1 mutation, but his sister is negative. Consequently, his mother will undergo magnetic resonance imaging and angiography screening for intracranial and spinal fast-flow lesions, while his sister will require no imaging or serial evaluations. Targeted mutation analysis has been offered to additional maternal family members. This case illustrates the benefit of molecular testing in diagnosis and making screening recommendations for families with CM-AVM.

  2. Diabetes eye exams

    MedlinePlus

    ... catch problems early if you get regular eye exams. ... diabetes checks your eyes, you need an eye exam every 1 to 2 years by an eye ... problems with your vision. Many can do screening exams for damage from diabetes. Once you have eye ...

  3. GI-Associated Hemangiomas and Vascular Malformations

    PubMed Central

    Yoo, Stephen

    2011-01-01

    Hemangiomas and vascular malformations of the gastrointestinal tract, rare clinical entities, present as overt or occult bleeding. They can be distributed throughout the intestinal digestive system, or present as a singular cavernous hemangioma or malformation, which is often located in the rectosigmoid region. Misdiagnosis is common despite characteristic radiographic features such as radiolucent phleboliths on plain film imaging and a purplish nodule on endoscopy. Adjunctive imaging such as computed tomography and magnetic resonance imaging are suggested as there is potential for local invasion. Endorectal ultrasound with Doppler has also been found to be useful in some instances. Surgical resection is the mainstay of treatment, with an emphasis on sphincter preservation. Nonsurgical endoscopic treatment with banding and sclerotherapy has been reported with success, especially in instances where an extensive resection is not feasible. PMID:22942801

  4. Animal Models in Studying Cerebral Arteriovenous Malformation

    PubMed Central

    Xu, Ming; Xu, Hongzhi; Qin, Zhiyong

    2015-01-01

    Brain arteriovenous malformation (AVM) is an important cause of hemorrhagic stroke. The etiology is largely unknown and the therapeutics are controversial. A review of AVM-associated animal models may be helpful in order to understand the up-to-date knowledge and promote further research about the disease. We searched PubMed till December 31, 2014, with the term “arteriovenous malformation,” limiting results to animals and English language. Publications that described creations of AVM animal models or investigated AVM-related mechanisms and treatments using these models were reviewed. More than 100 articles fulfilling our inclusion criteria were identified, and from them eight different types of the original models were summarized. The backgrounds and procedures of these models, their applications, and research findings were demonstrated. Animal models are useful in studying the pathogenesis of AVM formation, growth, and rupture, as well as in developing and testing new treatments. Creations of preferable models are expected. PMID:26649296

  5. Diagnosis of retinopathy in children younger than 12 years of age: implications for the diabetic eye screening guidelines in the UK.

    PubMed

    Hamid, A; Wharton, H M; Mills, A; Gibson, J M; Clarke, M; Dodson, P M

    2016-07-01

    AimTo assess whether the current starting age of 12 is suitable for diabetic retinopathy (DR) screening and whether diabetes duration should be taken into account when deciding at what age to start screening patients.Materials and methodsA retrospective analysis of 143 patients aged 12 years or younger who attended diabetic eye screening for the first time in the Birmingham, Solihull and Black Country Diabetic Eye Screening Programme was performed.ResultsThe mean age of the patients was 10.7 (7-12) years with 73 out of 143 aged below 12 years and 70 were 12 years of age. 98% had type 1 diabetes and mean diabetes duration was 5 (1 month-11 years) years. For those younger than 12 years, 7/73 (9.6%) had background DR (BDR), of these mean diabetes duration was 7 years (6-8). The youngest patient to present with DR was aged 8 years. In those aged 12 years, 5/70 (7.1%) had BDR; of these mean diabetes duration was 8 years (6-11). No patient developed DR before 6 years duration in either group.ConclusionsThe results show that no patient younger than the age of 12 had sight-threatening DR (STDR), but BDR was identified. Based on the current mission statement of the Diabetic Eye Screening Programme to identify STDR, 12 years of age is confirmed as the right age to start screening, but if it is important to diabetic management to identify first development of DR, then screening should begin after 6 years of diabetes diagnosis. PMID:27080488

  6. Trends and implications for achieving VISION 2020 human resources for eye health targets in 16 countries of sub-Saharan Africa by the year 2020

    PubMed Central

    2014-01-01

    Background Development of human resources for eye health (HReH) is a major global eye health strategy to reduce the prevalence of avoidable visual impairment by the year 2020. Building on our previous analysis of current progress towards key HReH indicators and cataract surgery rates (CSRs), we predicted future indicator achievement among 16 countries of sub-Saharan Africa by 2020. Methods Surgical and HReH data were collected from national eye care programme coordinators on six practitioner cadres: ophthalmologists, cataract surgeons, ophthalmic clinical officers, ophthalmic nurses, optometrists and ‘mid-level refractionists’ and combined them with publicly available population data to calculate practitioner-to-population ratios and CSRs. Data on workforce entry and exit (2008 to 2010) was used to project practitioner population and CSR growth between 2011 and 2020 in relation to projected growth in the general population. Associations between indicator progress and the presence of a non-physician cataract surgeon cadre were also explored using Wilcoxon rank sum tests and Spearman rank correlations. Results In our 16-country sample, practitioner per million population ratios are predicted to increase slightly for surgeons (ophthalmologists/cataract surgeons, from 3.1 in 2011 to 3.4 in 2020) and ophthalmic nurses/clinical officers (5.8 to 6.8) but remain low for refractionists (including optometrists, at 3.6 in 2011 and 2020). Among countries that have not already achieved target indicators, however, practitioner growth will be insufficient for any additional countries to reach the surgeon and refractionist targets by year 2020. Without further strategy change and investment, even after 2020, surgeon growth is only expected to sufficiently outpace general population growth to reach the target in one country. For nurses, two additional countries will achieve the target while one will fall below it. In 2011, high surgeon practitioner ratios were associated with

  7. Statins and congenital malformations: cohort study

    PubMed Central

    Hernandez-Diaz, Sonia; Fischer, Michael A; Seely, Ellen W; Ecker, Jeffrey L; Franklin, Jessica M; Desai, Rishi J; Allen-Coleman, Cora; Mogun, Helen; Avorn, Jerry; Huybrechts, Krista F

    2015-01-01

    Objective To examine the teratogenic potential of statins. Design Cohort study. Setting United States. Participants A cohort of 886 996 completed pregnancies linked to liveborn infants of women enrolled in Medicaid from 2000 to 2007. Methods We examined the risk of major congenital malformations and organ specific malformations in offspring associated with maternal use of a statin in the first trimester. Propensity score based methods were used to control for potential confounders, including maternal demographic characteristics, obstetric and medical conditions, and use of other drugs. Results 1152 (0.13%) women used a statin during the first trimester. In unadjusted analyses, the prevalence of malformations in the offspring of these women was 6.34% compared with 3.55% in those of women who did not use a statin in the first trimester (relative risk 1.79, 95% confidence interval 1.43 to 2.23). Controlling for confounders, particularly pre-existing diabetes, accounted for this increase in risk (1.07, 0.85 to 1.37). There were also no statistically significant increases in any of the organ specific malformations assessed after accounting for confounders. Results were similar across a range of sensitivity analyses. Conclusions Our analysis did not find a significant teratogenic effect from maternal use of statins in the first trimester. However, these findings need to be replicated in other large studies, and the long term effects of in utero exposure to statins needs to be assessed, before use of statins in pregnancy can be considered safe. PMID:25784688

  8. Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain.

    PubMed

    Abdel Razek, Ahmed Abdel Khalek; Castillo, Mauricio

    2016-01-01

    We aim to review the magnetic resonance imaging appearance of malformations of midbrain and hindbrain. These can be classified as predominantly cerebellar malformations, combined cerebellar and brain stem malformations, and predominantly brain stem malformations. The diagnostic criteria for the majority of these morphological malformations are based on neuroimaging findings. The predominantly cerebellar malformations include predominantly vermian hypoplasia seen in Dandy-Walker malformation and rhombencephalosynapsis, global cerebellar hypoplasia reported in lissencephaly and microlissencephaly, and unilateral cerebellar hypoplasia seen in PHACES, vanishing cerebellum, and cerebellar cleft. Cerebellar dysplasias are seen in Chudley-McCullough syndrome, associated with LAMA1 mutations and GPR56 mutations; Lhermitte-Duclos disease; and focal cerebellar dysplasias. Cerebellar hyperplasias are seen in megalencephaly-related syndromes and hemimegalencephaly with ipsilateral cerebellomegaly. Cerebellar and brain stem malformations include tubulinopathies, Joubert syndrome, cobblestone malformations, pontocerebellar hypoplasias, and congenital disorders of glycosylation type Ia. Predominantly brain stem malformations include congenital innervation dysgenesis syndrome, pontine tegmental cap dysplasia, diencephalic-mesencephalic junction dysplasia, disconnection syndrome, and pontine clefts. PMID:26599961

  9. Neuroembryology and brain malformations: an overview.

    PubMed

    Sarnat, Harvey B; Flores-Sarnat, Laura

    2013-01-01

    Modern neuroembryology integrates descriptive morphogenesis with more recent insight into molecular genetic programing and data enabled by cell-specific tissue markers that further define histogenesis. Maturation of individual neurons involves the development of energy pumps to maintain membrane excitability, ion channels, and membrane receptors. Most malformations of the nervous system are best understood in the context of aberrations of normal developmental processes that result in abnormal structure and function. Early malformations usually are disorders of genetic expression along gradients of the three axes of the neural tube, defective segmentation, or mixed lineages of individual cells. Later disorders mainly involve cellular migrations, axonal pathfinding, synaptogenesis, and myelination. Advances in neuroimaging now enable the diagnosis of many malformations in utero, at birth, or in early infancy in the living patient by abnormal macroscopic form of the brain. These images are complimented by modern neuropathological methods that disclose microscopic, immunocytochemical, and subcellular details beyond the resolution of MRI. Correlations may be made of both normal and abnormal ontogenesis with clinical neurological and EEG maturation in the preterm or term neonate for a better understanding of perinatal neurological disease. Precision in terminology is a key to scientific communication. PMID:23622157

  10. Malformations of cortical development and epilepsy.

    PubMed

    Leventer, Richard J; Guerrini, Renzo; Dobyns, William B

    2008-01-01

    Malformations of cortical development (MCDs) are macroscopic or microscopic abnormalities of the cerebral cortex that arise as a consequence of an interruption to the normal steps of formation of the cortical plate. The human cortex develops its basic structure during the first two trimesters of pregnancy as a series of overlapping steps, beginning with proliferation and differentiation of neurons, which then migrate before finally organizing themselves in the developing cortex. Abnormalities at any of these stages, be they environmental or genetic in origin, may cause disruption of neuronal circuitry and predispose to a variety of clinical consequences, the most common of which is epileptic seizures. A large number of MCDs have now been described, each with characteristic pathological, clinical, and imaging features. The causes of many of these MCDs have been determined through the study of affected individuals, with many MCDs now established as being secondary to mutations in cortical development genes. This review will highlight the best-known of the human cortical malformations associated with epilepsy. The pathological, clinical, imaging, and etiologic features of each MCD will be summarized, with representative magnetic resonance imaging (MRI) images shown for each MCD. The malformations tuberous sclerosis, focal cortical dysplasia, hemimegalencephaly, classical lissencephaly, subcortical band heterotopia, periventricular nodular heterotopia, polymicrogyria, and schizencephaly will be presented. PMID:18472484

  11. Chiari I malformations: clinical and radiologic reappraisal.

    PubMed

    Elster, A D; Chen, M Y

    1992-05-01

    Clinical findings and magnetic resonance (MR) images in 68 patients with Chiari I malformations were retrospectively analyzed to identify those radiologic features that correlated best with clinical symptoms. A statistically significant (P = .03) female predominance of the malformation was observed, with a female: male ratio of approximately 3:2. Associated skeletal anomalies were seen in 24% of patients. Syringomyelia was detected in 40% of patients, most commonly between the C-4 and C-6 levels. Of the 25 patients who presented with spinal symptoms, 23 (92%) proved to have a syrinx at MR imaging. When the syrinx extended into the medulla (n = 3), however, brain stem symptoms predominated. Patients with objective brain stem or cerebellar signs had the largest mean tonsillar herniations. Patients with tonsillar herniations greater than 12 mm were invariably symptomatic, but approximately 30% of patients with tonsils herniating 5-10 mm below the foramen magnum were asymptomatic at MR imaging. "Incidental" Chiari I malformations are thus much more common than previously recognized, and careful clinical assessment remains the cornerstone for proper diagnosis and management. PMID:1561334

  12. Combined Lymphedema and Capillary Malformation of the Lower Extremity

    PubMed Central

    Maclellan, Reid A.; Chaudry, Gulraiz

    2016-01-01

    Background: Primary lymphedema and capillary malformation are independent vascular malformations that can cause overgrowth of the lower extremity. We report a series of patients who had both types of malformations affecting the same leg. The condition is unique but may be confused with other types of vascular malformation overgrowth conditions (eg, Klippel–Trenaunay and Parkes Weber). Methods: Our Vascular Anomalies Center and Lymphedema Program databases were searched for patients with both capillary malformation and lymphedema. Diagnosis of lymphedema–capillary malformation was made by history, physical examination, and imaging studies. Because lymphedema–capillary malformation has phenotypical overlap with other conditions, only patients who had imaging confirming their diagnosis were included in the analysis. Clinical and radiological features, morbidity, and treatment were recorded. Results: Eight patients (4 females and 4 males) had confirmed lymphedema–capillary malformation. Referring diagnosis was Klippel–Trenaunay syndrome (n = 4), diffuse capillary malformation with overgrowth (n = 3), or lymphatic malformation (n = 1). The condition was unilateral (n = 6) or bilateral (n = 2). Morbidity included infection (n = 6), difficulty fitting clothes (n = 6), bleeding or leaking vesicles (n = 5), leg length discrepancy (n = 4), and difficulty ambulating (n = 3). All patients were managed with compression regimens. Operative management was liposuction (n = 3), treatment of phlebectatic veins (n = 3), staged skin/subcutaneous excision (n = 1), and/or epiphysiodesis (n = 1). Conclusions: Lymphedema and capillary malformation can occur together in the same extremity. Both conditions independently cause limb overgrowth primarily because of subcutaneous adipose deposition. Compression garments and suction-assisted lipectomy can improve the condition. Lymphedema–capillary malformation should not be confused with other vascular malformation overgrowth

  13. Eye muscle repair - discharge

    MedlinePlus

    ... page: //medlineplus.gov/ency/patientinstructions/000111.htm Eye muscle repair - discharge To use the sharing features on ... enable JavaScript. You or your child had eye muscle repair surgery to correct eye muscle problems that ...

  14. Eye muscle repair - slideshow

    MedlinePlus

    ... page: //medlineplus.gov/ency/presentations/100062.htm Eye muscle repair - series—Normal anatomy To use the sharing ... the eyeball to the eye socket. The external muscles of the eye are found behind the conjunctiva. ...

  15. Dilating Eye Drops

    MedlinePlus

    ... Frequently Asked Questions Español Condiciones Chinese Conditions Dilating Eye Drops En Español Read in Chinese What are dilating eye drops? Dilating eye drops contain medication to enlarge ( ...

  16. Fluorescent eye test (image)

    MedlinePlus

    The fluorescent eye test is useful in determining if there is a scratch or other problem with the surface ... has thoroughly covered the eye a cobalt blue light is then directed on the eye. The light ...

  17. Lymphatic Malformation, Retinoblastoma, or Facial Cleft: Atypical Presentations of PHACE Syndrome

    PubMed Central

    Fernández-Ibieta, María; López-Gutiérrez, Juan Carlos

    2015-01-01

    PHACE syndrome is a neurocutaneous disorder characterized by large cervicofacial infantile hemangiomas and associated anomalies: posterior fossa brain malformation, hemangioma, arterial cerebrovascular anomalies, coarctation of the aorta and cardiac defects, and eye/endocrine abnormalities of the brain. When ventral developmental defects (sternal clefting or supraumbilical raphe) are present the condition is termed PHACE. In this report, we describe three PHACE cases that presented unique features (affecting one of the organ systems described for this syndrome) that have not been described previously. In the first case, a definitive PHACE association, the patient presented with an ipsilateral mesenteric lymphatic malformation, at the age of 14 years. In the second case, an anomaly of the posterior segment of the eye, not mentioned before in PHACE literature, a retinoblastoma, has been described. Specific chemotherapy avoided enucleation. And, in the third case, the child presented with an unusual midline frontal bone cleft, corresponding to Tessier 14 cleft. Two patients' hemangiomas responded well to propranolol therapy. The first one was followed and treated in the pre-propranolol era and had a moderate response to corticoids and interferon. PMID:26221546

  18. Eyeing Ganymede

    NASA Technical Reports Server (NTRS)

    2000-01-01

    Jupiter casts a baleful eye toward the moon Ganymede in this enhanced-contrast image from NASA's Cassini spacecraft.

    Jupiter's 'eye', the Great Red Spot, was captured just before disappearing around the eastern edge of the planet. The furrowed eyebrow above and to the left of the spot is a turbulent wake region caused by westward flow that has been deflected to the north and around the Red Spot. The smallest features visible are about 240 kilometers (150 miles) across.

    Within the band south of the Red Spot are a trio of white ovals, high pressure counterclockwise-rotating regions that are dynamically similar to the Red Spot. The dark filamentary features interspersed between white ovals are probably cyclonic circulations and, unlike the ovals, are rotating clockwise.

    Jupiter's equatorial zone stretching across the planet north of the Spot appears bright white, with gigantic plume clouds spreading out from the equator both to the northeast and to the southeast in a chevron pattern. This zone looks distinctly different than it did during the Voyager flyby 21 years ago. Then, its color was predominantly brown and the only white plumes conspicuous against the darker material beneath them were oriented southwest-to-northeast.

    Ganymede is Jupiter's largest moon, about 50 percent larger than our own Moon and larger than the planet Mercury. The visible details in this image are different geological terrains. Dark areas tend to be older and heavily cratered; brighter areas are younger and less cratered. Cassini images of Ganymede and Jupiter's other large moons taken near closest approach on Dec. 30 will have resolutions about four times better than that seen here.

    This image is a color composite of ones taken with different filters by Cassini's narrow-angle camera on Nov. 18, 2000, processed to enhance contrast. Cassini is a cooperative project of NASA, the European Space Agency and the Italian Space Agency. The Jet Propulsion Laboratory, a division of

  19. Dandy-Walker Malformation Presenting with Psychological Manifestations.

    PubMed

    Rohanachandra, Yasodha Maheshi; Dahanayake, Dulangi Maneksha Amerasinghe; Wijetunge, Swarna

    2016-01-01

    Dandy-Walker malformation, which is a congenital malformation of the cerebellum, is documented in literature to be associated with psychotic symptoms, obsessive compulsive symptoms, mood symptoms, hyperactivity, and impulsive behavior. The pathogenesis of psychiatric symptoms in Dandy-Walker malformation is thought to be due to disruption of the corticocerebellar tracts, resulting in what is known as cerebellar cognitive affective syndrome. We present a case of Dandy-Walker malformation presenting with psychiatric symptoms. This case highlights the necessity to be aware of psychiatric manifestations of cerebellar disease as it has an impact on the diagnosis and treatment. PMID:27493822

  20. Dandy-Walker malformation in Ellis-van Creveld syndrome.

    PubMed

    Zangwill, K M; Boal, D K; Ladda, R L

    1988-09-01

    We report on 2 Old Order Amish patients with Ellis-van Creveld (EvC) syndrome and the Dandy-Walker malformation; a similar case is noted in the literature. Pedigree analysis of our patients documents extensive inbreeding in successive generations. Considering the rarity of EvC syndrome and Dandy-Walker malformation as isolated malformations, the appearance of both in our 2 patients plus the patient in the literature suggests that Dandy-Walker malformation may be a manifestation in the EvC syndrome. However, in this isolate the coincidental occurrence of 2 rare recessive traits cannot be excluded. PMID:3223493

  1. Malformations Among the X-Linked Intellectual Disability Syndromes

    PubMed Central

    Stevenson, Roger E.; Schwartz, Charles E.; Rogers, R. Curtis

    2013-01-01

    Malformations are significant contributions to childhood mortality and disability. Their co-occurrence with intellectual disability may compound the health burden, requiring additional evaluation and management measures. Overall, malformations of greater or lesser severity occur in at least some cases of almost half of the 153 XLID syndromes. Genitourinary abnormalities are most common, but tend to contribute little or no health burden and occur in only a minority of cases of a given XLID syndrome. Some malformations (e.g., lissencephaly, hydranencephaly, long bone deficiency, renal agenesis/dysplasia) are not amenable to medical or surgical intervention; others (e.g., hydrocephaly, facial clefting, cardiac malformations, hypospadias) may be substantially corrected. PMID:24166814

  2. Opercular malformations: clinical and MRI features in 11 children.

    PubMed

    Rolland, Y; Adamsbaum, C; Sellier, N; Robain, O; Ponsot, G; Kalifa, G

    1995-11-01

    Opercular malformations are rare and complex brain malformations for which only very fragmented neuropathological descriptions have been reported. They are related to an abnormal development of both sylvian fissure and frontoparietal operculum. We report a retrospective clinical and MRI study of 11 patients presenting with opercular malformations. A congenital pseudobulbar syndrome was observed in six cases, various motor disorders in seven cases, mental retardation in six cases and epilepsy in four cases. The purpose of this study is to evaluate the main features of opercular malformations in children and to try to characterise this entity on the basis of its clinical features and MRI pattern. PMID:8577527

  3. Dandy-Walker Malformation Presenting with Psychological Manifestations

    PubMed Central

    Dahanayake, Dulangi Maneksha Amerasinghe

    2016-01-01

    Dandy-Walker malformation, which is a congenital malformation of the cerebellum, is documented in literature to be associated with psychotic symptoms, obsessive compulsive symptoms, mood symptoms, hyperactivity, and impulsive behavior. The pathogenesis of psychiatric symptoms in Dandy-Walker malformation is thought to be due to disruption of the corticocerebellar tracts, resulting in what is known as cerebellar cognitive affective syndrome. We present a case of Dandy-Walker malformation presenting with psychiatric symptoms. This case highlights the necessity to be aware of psychiatric manifestations of cerebellar disease as it has an impact on the diagnosis and treatment. PMID:27493822

  4. Eye muscle repair - series (image)

    MedlinePlus

    ... the eyeball to the eye socket. The external muscles of the eye are found behind the conjunctiva. ... The extraocular muscles of the eye (external to the eyeball) control the positioning of the eyes. They coordinate of the eye ...

  5. Malformations of the tooth root in humans.

    PubMed

    Luder, Hans U

    2015-01-01

    The most common root malformations in humans arise from either developmental disorders of the root alone or disorders of radicular development as part of a general tooth dysplasia. The aim of this review is to relate the characteristics of these root malformations to potentially disrupted processes involved in radicular morphogenesis. Radicular morphogenesis proceeds under the control of Hertwig's epithelial root sheath (HERS) which determines the number, length, and shape of the root, induces the formation of radicular dentin, and participates in the development of root cementum. Formation of HERS at the transition from crown to root development appears to be very insensitive to adverse effects, with the result that rootless teeth are extremely rare. In contrast, shortened roots as a consequence of impaired or prematurely halted apical growth of HERS constitute the most prevalent radicular dysplasia which occurs due to trauma and unknown reasons as well as in association with dentin disorders. While odontoblast differentiation inevitably stops when growth of HERS is arrested, it seems to be unaffected even in cases of severe dentin dysplasias such as regional odontodysplasia and dentin dysplasia type I. As a result radicular dentin formation is at least initiated and progresses for a limited time. The only condition affecting cementogenesis is hypophosphatasia which disrupts the formation of acellular cementum through an inhibition of mineralization. A process particularly susceptible to adverse effects appears to be the formation of the furcation in multirooted teeth. Impairment or disruption of this process entails taurodontism, single-rooted posterior teeth, and misshapen furcations. Thus, even though many characteristics of human root malformations can be related to disorders of specific processes involved in radicular morphogenesis, precise inferences as to the pathogenesis of these dysplasias are hampered by the still limited knowledge on root formation

  6. Malformations of the tooth root in humans

    PubMed Central

    Luder, Hans U.

    2015-01-01

    The most common root malformations in humans arise from either developmental disorders of the root alone or disorders of radicular development as part of a general tooth dysplasia. The aim of this review is to relate the characteristics of these root malformations to potentially disrupted processes involved in radicular morphogenesis. Radicular morphogenesis proceeds under the control of Hertwig's epithelial root sheath (HERS) which determines the number, length, and shape of the root, induces the formation of radicular dentin, and participates in the development of root cementum. Formation of HERS at the transition from crown to root development appears to be very insensitive to adverse effects, with the result that rootless teeth are extremely rare. In contrast, shortened roots as a consequence of impaired or prematurely halted apical growth of HERS constitute the most prevalent radicular dysplasia which occurs due to trauma and unknown reasons as well as in association with dentin disorders. While odontoblast differentiation inevitably stops when growth of HERS is arrested, it seems to be unaffected even in cases of severe dentin dysplasias such as regional odontodysplasia and dentin dysplasia type I. As a result radicular dentin formation is at least initiated and progresses for a limited time. The only condition affecting cementogenesis is hypophosphatasia which disrupts the formation of acellular cementum through an inhibition of mineralization. A process particularly susceptible to adverse effects appears to be the formation of the furcation in multirooted teeth. Impairment or disruption of this process entails taurodontism, single-rooted posterior teeth, and misshapen furcations. Thus, even though many characteristics of human root malformations can be related to disorders of specific processes involved in radicular morphogenesis, precise inferences as to the pathogenesis of these dysplasias are hampered by the still limited knowledge on root formation

  7. Laser treatment of oral vascular malformations

    NASA Astrophysics Data System (ADS)

    Romeo, U.; Gaimari, G.; Mohsen, M.; Tenore, G.; Palaia, G.

    2014-01-01

    Oral Vascular Malformations (OVM) are congenital anomalies characterized by morph-structural and/or functional changes of nature in severity and extension. OVM can affect any type of vessels arterial, venous or lymphatic and any capillary or anatomical. They are divided into two categories: low and high flow. In this study were treated 40 patients with OVM with a range size from 2 mm to 44 mm; they were subjected to clinical examination supported by Colour-Doppler Ultrasound instrumental examination and only for doubt cases the Magnetic Resonance Imaging (MRI) was prescribed. Only low flow venous and capillary malformations were treated by GaAlAs laser (Wiser®, Lambda, Brindole,Italy, 980nm) and KTP laser (SmartLite®, DEKA, Florence, Italy, 532nm) with two different techniques: the Transmucosal Thermophotocoagulation (TMT) and the Intralesional Photocoagulation (ILP). These techniques permitted a good control of haemostasis, avoiding bleeding both during surgery and in the postoperative. It is obtained an excellent and good healing respectively in 10% and 60% of cases, a moderate and poor resolution respectively in 22.5% and 7.5% of cases. A clear diagnosis allowed the management of Venous malformations (VM) by laser devices with wavelengths highly absorbed in haemoglobin in safety and efficacy and according to the principles of minimal invasive surgery. The aim of this study was to verify if the laser is effective in the treatment of OVM for the purpose of the clinical findings and the postoperative course. The Authors concluded that the laser can be considered the "gold standard" for treating OVM.

  8. Eating for Your Eyes

    ERIC Educational Resources Information Center

    Stastny, Sherri Nordstrom; Garden-Robinson, Julie

    2011-01-01

    An educational program targeting older adults was developed to increase knowledge regarding nutrition and eye health. With age, the chance for eye disease increases, so prevention is critical. The Eating for Your Eyes program has promoted behavior changes regarding eye health among the participants. This program is easily replicated and use is…

  9. Congenital malformation and maternal occupational exposure to glycol ethers. Occupational Exposure and Congenital Malformations Working Group.

    PubMed

    Cordier, S; Bergeret, A; Goujard, J; Ha, M C; Aymé, S; Bianchi, F; Calzolari, E; De Walle, H E; Knill-Jones, R; Candela, S; Dale, I; Dananché, B; de Vigan, C; Fevotte, J; Kiel, G; Mandereau, L

    1997-07-01

    Glycol ethers are found in a wide range of domestic and industrial products, many of which are used in women's work environments. Motivated by concern about their potential reproductive toxicity, we have evaluated the risk of congenital malformations related to glycol ether exposure during pregnancy as part of a multicenter case-control study, conducted in six regions in Europe. The study comprised 984 cases of major congenital malformations and 1,134 controls matched for place and date of birth. Interviews of the mothers provided information about occupation during pregnancy, sociodemographic variables, and other potential risk factors (medical history, tobacco, alcohol, drugs). A chemist specializing in glycol ethers evaluated exposure during pregnancy, using the job description given by the mother, without knowledge of case or control status. We classified malformations into 22 subgroups. The overall odds ratio (OR) of congenital malformation associated with glycol ether exposure was 1.44 [95% confidence interval (CI) = 1.10-1.90], after adjustment for several potential confounders. The association with exposure to glycol ethers appeared particularly strong in three subgroups: neural tube defects (OR = 1.94; 95% CI = 1.16-3.24), multiple anomalies (OR = 2.00; 95% CI = 1.24-3.23), and cleft lip (OR = 2.03; 95% CI = 1.11-3.73). In this last subgroup, risk, especially of an isolated defect, tended to increase with level of exposure. PMID:9209847

  10. [Early stage of a cloverleaf skull malformation].

    PubMed

    Fischer, G; Hori, A; Ulbrich, R; Rath, W

    1982-12-01

    Cloverleaf skull anomaly was diagnosed sonographically and in the fetogram, together with concomitant chondrodystrophy. This resulted in an indication for intentional abortion in the 29th week. Consequently, this rare form of skull monstrosity could be examined pathologico-anatomically for the first time in a very early stage of foetal development. Contrary to the widely held opinion that the reason for such hideous malformation is a hydrocephalus internus due to a deformation of the skull base, we found a practically negligible hydrocephalus, although the cloverleaf skull had already developed in a very marked manner. Hence, this case contradicts the generally adopted formal pathogenetic interpretation of cloverleaf skull monstrosity. PMID:7178767

  11. Oral vascular malformations: laser treatment and management

    NASA Astrophysics Data System (ADS)

    Romeo, U.; Rocchetti, F.; Gaimari, G.; Tenore, G.; Palaia, G.; Lo Giudice, G.

    2016-03-01

    Vascular malformations are a very heterogeneous group of circulatory system's diseases that can involve different kind of vessels: arterial, venous or lymphatic ones. Many treatments, such as conventional surgery, embolization, steroid therapy and laser therapy, are available for vascular lesions. The laser approach relies more therapeutic techniques: the transmucosal thermophotocoagulation, intralesional photocoagulation, the excisional biopsy. Today laser is demonstrated to be the gold standard technique to treat vascular lesions that allows a safe and efficient treatment and a lower post-operative healing time. The only disadvantage is the risk of carbonization that could be avoided by using the multiple-spot single pulsed wave technique.

  12. Pretreatment imaging of peripheral vascular malformations

    PubMed Central

    Johnson, Joshua B; Cogswell, Petrice M; McKusick, Michael A; Binkovitz, Larry A; Riederer, Stephen J; Young, Phillip M

    2015-01-01

    Peripheral vascular malformations (VMs) are complex and diverse vascular lesions which require individualized pretreatment planning. Pretreatment imaging using various modalities, especially magnetic resonance imaging and time-resolved magnetic resonance angiography, is a valuable tool for classifying peripheral VMs to allow proper diagnosis, demonstrate complete extent, identify the nidus, and distinguish between low-flow and high-flow dynamics that determines the treatment approach. We discuss pretreatment imaging findings in four patients with peripheral VMs and how diagnostic imaging helped guide management. PMID:25625123

  13. Spinal Arteriovenous Malformation Masquerating Zoster Sine Herpete

    PubMed Central

    Lee, Ji Young; Ok, Se Jin; Oh, Chang Keun; Park, Sun Kyung; Kim, Do Wan

    2013-01-01

    Zoster sine herpete (ZSH) is difficult to diagnosis during an acute period due to the absence of the characteristic zosteriform dermatomal rash; therefore, progression to postherpetic neuralgia is more common than typical zoster. In addition, misdiagnosis of other neuropathic pain as ZSH is common in clinical situations. Here, we report a case of spinal arteriovenous malformation that mimics ZSH. This is a rare condition; therefore, high clinical suspicion for a correct diagnosis and proper examination are not easy. However, early diagnosis and definitive treatment are essential to prevent neurologic deficit and mortality. PMID:23342212

  14. Role of Embolization for Cerebral Arteriovenous Malformations

    PubMed Central

    Ellis, Jason A.; Lavine, Sean D.

    2014-01-01

    Cerebral arteriovenous malformations (AVMs) are complex high-flow lesions that can result in devastating neurological injury when they hemorrhage. Embolization is a critical component in the management of many patients with cerebral AVMs. Embolization may be used as an independent curative therapy or more commonly in an adjuvant fashion prior to either micro- or radiosurgery. Although the treatment-related morbidity and mortality for AVMs—including that due to microsurgery, embolization, and radiosurgery—can be substantial, its natural history offers little solace. Fortunately, care by a multidisciplinary team experienced in the comprehensive management of AVMs can offer excellent results in most cases. PMID:25624978

  15. Microlissencephaly: a heterogeneous malformation of cortical development.

    PubMed

    Barkovich, A J; Ferriero, D M; Barr, R M; Gressens, P; Dobyns, W B; Truwit, C L; Evrard, P

    1998-06-01

    We report the neonatal courses, early postnatal development, and neuroimaging findings of 17 patients with marked microcephaly and simplified cerebral gyral patterns, a condition that we call microlissencephaly. Retrospective analyses of the clinicoradiologic features of these patients allowed segregation of the patients into 5 distinct groups with varying outcomes. The apparent discreteness of these groups suggests multiple etiologies of this malformation, although there appears to be a strong genetic component with probable autosomal recessive inheritance. Utilizing the neonatal course and neuroradiologic features of these infants allows classification of specific subsets, which may be useful to predict outcome. PMID:9706619

  16. Chiari I malformation: classification and management.

    PubMed

    Bindal, A K; Dunsker, S B; Tew, J M

    1995-12-01

    Considerable debate exists about which surgical options are best for the management of the Chiari I malformation. We present a classification system for the Chiari I malformation that improves the prediction of outcome and guides the selection of surgical treatment. Twenty-seven adult patients with Chiari I malformations were grouped on the basis of the presence of signs and symptoms of brain stem compression, syringomyelia, or both. To objectively assess changes in clinical status postoperatively, a scale was developed to quantify the signs and symptoms, which were statistically analyzed by the paired t test. Five patients were asymptomatic and underwent no treatment. Ten patients had symptoms of brain stem compression without associated syringomyelia and underwent brain stem decompression, including anterior decompression in one patient with basilar invagination; all 10 patients had significant improvement at 4-year mean follow-up visits (P < 0.0001). In 12 patients with syringomyelia, 5 were symptomatic from syringomyelia only, 6 were symptomatic from both brain stem compression and syringomyelia, and 1 was symptomatic from brain stem compression only. The median length of symptoms before presentation was longer for patients with syringomyelia than for patients without (2 yr versus 9 mo; P < 0.025); the mean follow-up was 4 years. Surgical procedures included posterior brain stem decompression in 12 patients, plugging of the obex in 7, and placement of syringosubarachnoid shunts in 7, a syringopleural shunt in 1, and fourth ventricular stents in 2. In the 12 patients with syringomyelia, symptoms from brain stem compression dramatically improved with surgical decompression (P < 0.025), whereas symptoms from syringomyelia less dramatically improved or stabilized. The slight improvement or stabilization of syrinx symptoms represents a successful result, given the documented progressive nature of syringomyelia in this group. We conclude that surgical treatment for

  17. Embryonic development and malformation of lymphatic vessels.

    PubMed

    Wilting, Jörg; Buttler, Kerstin; Rössler, Jochen; Norgall, Susanne; Schweigerer, Lothar; Weich, Herbert A; Papoutsi, Maria

    2007-01-01

    In the human, malformations of lymphatic vessels can be observed as lymphangiectasia, lymphangioma and lymphangiomatosis, with a prevalence of 1.2-2.8 per thousand. Their aetiology is unknown and a causal therapy does not exist. We investigated the origin of lymphatic endothelial cells (LECs) in avian and murine embryos, and compared the molecular profile of LECs from normal and malformed lymphatics of children. In avian embryos, Prox1+ lymphangioblasts are located in the confluence of the cranial and caudal cardinal veins, where the jugular lymph sac (JLS) forms. Cell lineage studies show that the JLS is of venous origin. In contrast, the lymphatics of the dermis are derived from mesenchymal lymphangioblasts located in the dermatomes, suggesting a dual origin of LECs in avian embryos. The same may hold true for murine embryos, where Lyve1+ LEC precursors are found in the cardinal veins, and in the mesenchyme. The mesenchymal cells express the pan-leukocyte marker CD45, indicating a cell type with lymphendothelial and leukocyte characteristics. In the human, such cells might give rise to Kaposi's sarcoma. Microarray analyses of LECs from lymphangiomas of children show a large number of regulated genes, such as VEGFR3. Our studies show that lymphvasculogenesis and lymphangiogenesis occur simultaneously in the embryo, and suggest a function for VEGFR3 in lymphangiomas. PMID:18300425

  18. Twin pregnancy in the congenital malformed uterus.

    PubMed

    Heinonen, Pentti K

    2016-07-01

    The frequency and outcome of twin pregnancies in women with uterine malformation were studied. The cohort comprised 13 (4.9%) women with twin pregnancy found among 263 women. They had 483 deliveries, 13 of them twins (2.7%; 95% CI 1.6-4.6%). Among 38 patients with unicornuate uterus 5 (6.8%) out of 74 deliveries were twins, 39 women with didelphic uterus 2 (3.2%) out of 62 deliveries and 147 women with septate or subseptate uterus 6 (2.3%) out of 264 deliveries were twins. The mean duration of gestation was 249 days (range 190-268 days), 5 (38%) out of 13 deliveries were premature, 25 out of 26 newborns were alive. Mean durations of gestation and mean weights of newborns did not differ when 7 cases with unicornuate or didelphic uterus were compared to 6 cases with complete or partial uterine septum. A congenital malformed uterus can bear twin pregnancy without severe complications apart from prematurity. PMID:26757792

  19. Genetic Basis of Congenital Cardiovascular Malformations

    PubMed Central

    Lalani, Seema R.; Belmont, John W.

    2014-01-01

    Cardiovascular malformations are a singularly important class of birth defects and, due to dramatic improvements in medical and surgical care, there are now large numbers of adult survivors. The etiologies are complex, but there is strong evidence that genetic factors play a crucial role. Over the last 15 years there has been enormous progress in the discovery of causative genes for syndromic heart malformations and in rare families with Mendelian forms. The rapid characterization of genomic disorders as major contributors to congenital heart defects is also notable. The genes identified encode many transcription factors, chromatin regulators, growth factors and signal transduction pathways– all unified by their required roles in normal cardiac development. Genome-wide sequencing of the coding regions promises to elucidate genetic causation in several disorders affecting cardiac development. Such comprehensive studies evaluating both common and rare variants would be essential in characterizing gene-gene interactions, as well as in understanding the gene-environment interactions that increase the susceptibility to congenital heart defects. PMID:24793338

  20. Unusual Presentation of Cerebral Cavernous Malformation.

    PubMed

    Kim, Won-Hyung; Lim, Dong-Jun; Choi, Jong-Il; Ha, Sung-Kon; Kim, Sang-Dae; Kim, Se-Hoon

    2015-09-01

    Cerebral cavernous malformations (CMs) are vascular malformations of the central nervous system, which can be detected in the absence of any clinical symptoms. Nodules and cysts with mixed signal intensity and a peripheral hemosiderin rim are considered brain magnetic resonance imaging (MRI) findings typical of CMs. A 48-year-old man was admitted to our hospital because of abnormal MRI findings without significant neurological symptoms. A cyst with an internal fluid-fluid level was found in the left basal ganglia on the initial brain MRI. We decided to observe the natural course of the asymptomatic lesion with serial MRI follow-up. On MRI at the 5-month follow-up, the cystic mass was enlarged and showed findings consistent with those of cystic CM. Surgical resection was performed and the pathological diagnosis was CM. Our experience suggests that the initial presentation of a CM can be a pure cyst and neurosurgeons should consider the likelihood of CMs in cases of cystic cerebral lesions with intracystic hemorrhage. PMID:26523262

  1. Unusual Presentation of Cerebral Cavernous Malformation

    PubMed Central

    Kim, Won-Hyung; Choi, Jong-Il; Ha, Sung-Kon; Kim, Sang-Dae; Kim, Se-Hoon

    2015-01-01

    Cerebral cavernous malformations (CMs) are vascular malformations of the central nervous system, which can be detected in the absence of any clinical symptoms. Nodules and cysts with mixed signal intensity and a peripheral hemosiderin rim are considered brain magnetic resonance imaging (MRI) findings typical of CMs. A 48-year-old man was admitted to our hospital because of abnormal MRI findings without significant neurological symptoms. A cyst with an internal fluid-fluid level was found in the left basal ganglia on the initial brain MRI. We decided to observe the natural course of the asymptomatic lesion with serial MRI follow-up. On MRI at the 5-month follow-up, the cystic mass was enlarged and showed findings consistent with those of cystic CM. Surgical resection was performed and the pathological diagnosis was CM. Our experience suggests that the initial presentation of a CM can be a pure cyst and neurosurgeons should consider the likelihood of CMs in cases of cystic cerebral lesions with intracystic hemorrhage. PMID:26523262

  2. Combined neuroradiological and neurosurgical treatment of intracerebral arteriovenous malformations.

    PubMed

    Adelt, D; Brückmann, H; Krenkel, W; Hacke, W; Zeumer, H

    1988-07-01

    Four patients with intracerebral vascular malformations underwent preoperative butylcyanoacrylate embolization via a calibrated leak catheter, in order to reduce the risks of surgery alone. In three cases the malformation was removed without causing neurological deficits. One patient died later from recurrent bleeding. PMID:3171616

  3. Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.

    PubMed

    Whitman, Mary C; Andrews, Caroline; Chan, Wai-Man; Tischfield, Max A; Stasheff, Steven F; Brancati, Francesco; Ortiz-Gonzalez, Xilma; Nuovo, Sara; Garaci, Francesco; MacKinnon, Sarah E; Hunter, David G; Grant, P Ellen; Engle, Elizabeth C

    2016-02-01

    One set of missense mutations in the neuron specific beta tubulin isotype 3 (TUBB3) has been reported to cause malformations of cortical development (MCD), while a second set has been reported to cause isolated or syndromic Congenital Fibrosis of the Extraocular Muscles type 3 (CFEOM3). Because TUBB3 mutations reported to cause CFEOM had not been associated with cortical malformations, while mutations reported to cause MCD had not been associated with CFEOM or other forms of paralytic strabismus, it was hypothesized that each set of mutations might alter microtubule function differently. Here, however, we report two novel de novo heterozygous TUBB3 amino acid substitutions, G71R and G98S, in four patients with both MCD and syndromic CFEOM3. These patients present with moderately severe CFEOM3, nystagmus, torticollis, and developmental delay, and have intellectual and social disabilities. Neuroimaging reveals defective cortical gyration, as well as hypoplasia or agenesis of the corpus callosum and anterior commissure, malformations of hippocampi, thalami, basal ganglia and cerebella, and brainstem and cranial nerve hypoplasia. These new TUBB3 substitutions meld the two previously distinct TUBB3-associated phenotypes, and implicate similar microtubule dysfunction underlying both. PMID:26639658

  4. Congenital malformations in Japanese macaques (Macaca fuscata) at Takasakiyama.

    PubMed

    Sugiyama, Yukimaru; Kurita, Hiroyuki; Matsui, Takeshi; Kimoto, Satoshi; Egawa, Junko

    2014-04-01

    From the late 1960s to the early 1970s, many congenitally malformed infants were born into provisioned Japanese macaque troops. Although the exact cause of this problem was not determined, the occurrence of malformations decreased thereafter. We examined possible factors such as total population size, number of adult females, birth rate, and volume of provisioned food. Agrichemicals attached to provisioned food are suspected as the main cause, as other factors were found to have no influence. Many more malformations were seen in males compared with females, in feet compared with hands, and in the fourth compared with other digits. We confirmed that the frequency of congenital malformation was high during the 1960s through to the mid-1970s when increased levels of provisioned food were given and that the incidence of congenital malformations was also elevated among wild macaques during this time. PMID:24474604

  5. Antenatally diagnosed congenital cystic adenomatoid malformations (CCAM): Research Review

    PubMed Central

    Di Prima, Fosca Antonia Francesca; Bellia, Adriano; Inclimona, Genny; Grasso, Francesco; Teresa, Maria; Cassaro, Meli Nazario

    2012-01-01

    Summary Prenatal identification of lung abnormalities has increased with prenatal surveillance. With the advent of improved antenatal imaging over the past ten years, the diagnosis, assessment and management of congenital cystic lung abnormalities have changed. These were once considered the exclusive domain of the surgeon, who had the authority to operate on all congenital cystic lung abnormalities regardless of size or clinical signs in order to avoid the risk of cancer and improve lung growth in even asymptomatic infants. Clinicians are reconsidering this approach in the light of the spontaneous improvement and possible resolution that occurs over months to years with many of these lesions, thinking about the opportunity to take a more conservative approach in many minimally symptomatic or asymptomatic infants in the early months of life. The risks of subsequent cancer are poorly understood and probably overstated. Many centers advocate surgery only in cases of symptomatic or significant lesions, although there is little consensus as to what constitutes a significant lesion. This article will review current knowledge (classification, pathogenesis, genetics, prenatal evaluation, clinical implications) on congenital cystic adenomatoid malformations (CCAM) and discuss management options for young children with these lung abnormalities. PMID:22905308

  6. Risk of congenital malformations associated with proximity to hazardous waste sites

    SciTech Connect

    Geschwind, S.A.; Stolwijk, J.A.; Bracken, M.; Fitzgerald, E.; Stark, A.; Olsen, C.; Melius, J. )

    1992-06-01

    Concern about environmental pollutants has increased; however, it remains unclear whether chronic exposures to toxic chemicals in the environment occur at doses sufficient to produce adverse health effects in humans. To date, community studies have not adequately addressed this question. In this study, the authors linked two existing data bases of the New York State Department of Health to evaluate the relation between congenital malformations and residential proximity to hazardous waste sites in New York State. A total of 9,313 newborns with congenital malformations and 17,802 healthy controls living in proximity to 590 hazardous waste sites in 1983 and 1984 were evaluated. After the authors controlled for several possible confounding factors, results indicated that maternal proximity to hazardous waste sites may carry a small additional risk of bearing children with congenital malformations (odds ratio (OR) = 1.12, 95% confidence interval (Cl) 1.06-1.18). Higher malformation rates were associated with both a higher exposure risk (no exposure risk: OR = 1.00; low exposure risk: OR = 1.09, 95% Cl 1.04-1.15; high exposure risk: OR = 1.63, 95% Cl 1.34-1.99) and documentation of off-site chemical leaks (not exposed: OR = 1.00; exposed, but no leaks at site: OR = 1.08, 95% Cl 1.02-1.15; exposed, and leaks found at site: OR = 1.17, 95% Cl 1.08-1.27). The increased rates detected may be important in terms of their public health implications. Further research is necessary to strengthen causal inferences regarding the teratogenicity, of waste site exposure.

  7. The Role of Macrophage in the Pathogenesis of Brain Arteriovenous Malformation

    PubMed Central

    Ma, Li; Guo, Yi; Zhao, Yuan-Li; Su, Hua

    2015-01-01

    Brain arteriovenous malformation (BAVM) is an important risk factor for intracranial hemorrhage, especially in children and young adults. Inflammation has been implicated in BAVM lesion progression. Among various inflammatory components, macrophage is one of the major inflammatory cells present in human ruptured and unruptured BAVM and in the BAVM lesions of animal models. The role of macrophage in BAVM pathogenesis is not fully understood. In this review, we summarize recent studies on macrophages and introduce a non-invasive imaging protocol as a potential tool for detecting macrophage in BAVM and predicting the risk of BAVM rupture. PMID:26495437

  8. Neural tube malformations: complex segregation analysis and calculation of recurrence risks.

    PubMed Central

    Lalouel, J M; Morton, N E; Jackson, J

    1979-01-01

    Familial data on neural tube malformations in Great Britain were submitted to segregation analysis under the mixed model. Maternal and fetal factors cannot be discriminated in the absence of substantial bodies of data on spina bifida survivors who reproduce or on half-sibs. Early abortion studies would allow differential mortality in utero to be taken into account. After fitting the mixed and generalised single locus models, it is concluded that the multifactorial model can provisionally be used for calculation of recurrence risks. Pathogenic hypotheses implicating twinning seem to rest on little evidence. PMID:381662

  9. Associated malformations in patients with limb reduction deficiencies.

    PubMed

    Stoll, Claude; Alembik, Yves; Dott, Beatrice; Roth, Marie-Paule

    2010-01-01

    Infants with limb reduction deficiencies (LRD) often have other associated congenital malformations. The purpose of this investigation was to assess the prevalence and the types of associated malformations in a defined population. This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for malformations was continued until 1 year of age. The associated malformations in infants with LRD were collected in all livebirths, stillbirths and terminations of pregnancy during 25 years in 347,810 consecutive births in the area covered by our population based registry of congenital malformations. Of the 271 LRD infants born during this period, representing a prevalence of 7.8 per 10,000, 57.9% had associated malformations. There were 17(6.3%) patients with chromosomal abnormalities including 10 trisomies 18, and 62 (22.9%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VA(C)TER(L) association. However numerous recognized dysmorphic conditions were registered including Poland, ectrodactyly-ectodermal dysplasia-clefting, oral-facial-digital, Klippel-Trenaunay-Weber, oculo-auriculo-vertebral defect spectrum, CHARGE, Townes-Brocks, Moebius, Du Pan, Smith-Lemli-Opitz, hypoglossia-hypodactyly, amniotic band, De Lange, Rubinstein-Taybi, Fanconi, radius aplasia- thrombocytopenia, Roberts, Holt-Oram, and fetal diethylstilbestrol. Seventy eight (28.8%) of the patients were multiply, non-syndromic, non chromosomal malformed infants (MCA). Malformations in the cardiac system, in the genital system, and in the central nervous system were the most common other malformations, 11.4%, 9.4%, and 7.7% of the associated malformations, respectively, followed by malformations in the renal system (4.8%), and in the digestive system (4.6%). Prenatal diagnosis was performed in 48.4% of dysmorphic syndromes with LRD. The overall prevalence

  10. An eye for the I: Preferential attention to the eyes of ingroup members.

    PubMed

    Kawakami, Kerry; Williams, Amanda; Sidhu, David; Choma, Becky L; Rodriguez-Bailón, Rosa; Cañadas, Elena; Chung, Derek; Hugenberg, Kurt

    2014-07-01

    Human faces, and more specifically the eyes, play a crucial role in social and nonverbal communication because they signal valuable information about others. It is therefore surprising that few studies have investigated the impact of intergroup contexts and motivations on attention to the eyes of ingroup and outgroup members. Four experiments investigated differences in eye gaze to racial and novel ingroups using eye tracker technology. Whereas Studies 1 and 3 demonstrated that White participants attended more to the eyes of White compared to Black targets, Study 2 showed a similar pattern of attention to the eyes of novel ingroup and outgroup faces. Studies 3 and 4 also provided new evidence that eye gaze is flexible and can be meaningfully influenced by current motivations. Specifically, instructions to individuate specific social categories increased attention to the eyes of target group members. Furthermore, the latter experiments demonstrated that preferential attention to the eyes of ingroup members predicted important intergroup biases such as recognition of ingroup over outgroup faces (i.e., the own-race bias; Study 3) and willingness to interact with outgroup members (Study 4). The implication of these findings for general theorizing on face perception, individuation processes, and intergroup relations are discussed. PMID:24956311

  11. Craniofacial malformation among endemic cretins in Ecuador.

    PubMed

    Israel, H; Johnson, G F; Fierro-Benitez, R

    1983-01-01

    Nearly 6% of the inhabitants of two villages in Ecuador are deaf-mute and mentally retarded cretins. These communities are situated in the Andean highlands where environmental and dietary stores of iodine are extremely scarce. Endemic goiter and cretinism are widespread, and 10% of the cretins are additionally burdened with dwarfism and facial dysmorphia. Those with obvious involvement of the skeletal system were selected in order to study the extent of craniofacial malformation. Their appearance is characterized by midface hypoplasia, a broad nose with a depressed bridge, and a conspicuous circumoral prominence. Radiographic evaluation demonstrates a vertical displacement of the cranial base with an associated upward tilt of the midface. The flattened frontal bone, reduced frontal sinus pneumatization, and diminutive nasal bones collectively create a backward sloping face. The defect in the craniofacial skeleton of these Ecuadorian cretins is characteristic, and it readily sets them apart from the dysmorphism of those cretins with myxedema. PMID:6874895

  12. CT of thrombosed arteriovenous malformations in children

    SciTech Connect

    Mitnick, J.S.; Pinto, R.S.; Lin, J.P.; Rose, H.; Lieberman, A.

    1984-02-01

    Thrombosed arteriovenous malformations (AVMs) in children are rare lesions that may present with headaches or a seizure disorder. Thirteen patients (4 months to 21 years of age) with this lesion were examined with computed tomography (CT). In 11 patients surgical confirmation was obtained, and the other two patients were examined with follow-up CT scans. Angiography either showed an avascular mass (7/13) or was negative (6/13). CT showed a lobulated lesion (8/13), peripheral location (11/13), and minimal surrounding edema (8/13). All of the lesions were hyperdense prior to the administration of contrast material and all enhanced either slightly or not at all following contrast material administration. It is concluded that these characteristic CT features aid in making the diagnosis of thrombosed AVM. The major differential diagnosis is small intracerebral neoplasm.

  13. Advanced noninvasive imaging of spinal vascular malformations

    PubMed Central

    Eddleman, Christopher S.; Jeong, Hyun; Cashen, Ty A.; Walker, Matthew; Bendok, Bernard R.; Batjer, H. Hunt; Carroll, Timothy J.

    2010-01-01

    Spinal vascular malformations (SVMs) are an uncommon, heterogeneous group of vascular anomalies that can render devastating neurological consequences if they are not diagnosed and treated in a timely fashion. Imaging SVMs has always presented a formidable challenge because their clinical and imaging presentations resemble those of neoplasms, demyelination diseases, and infection. Advancements in noninvasive imaging modalities (MR and CT angiography) have increased during the last decade and have improved the ability to accurately diagnose spinal vascular anomalies. In addition, intraoperative imaging techniques have been developed that aid in the intraoperative assessment before, during, and after resection of these lesions with minimal and/or optimal use of spinal digital subtraction angiography. In this report, the authors review recent advancements in the imaging of SVMs that will likely lead to more timely diagnoses and treatment while reducing procedural risk exposure to the patients who harbor these uncommon spinal lesions. PMID:19119895

  14. Cerebral cavernous malformation proteins at a glance.

    PubMed

    Draheim, Kyle M; Fisher, Oriana S; Boggon, Titus J; Calderwood, David A

    2014-02-15

    Loss-of-function mutations in genes encoding KRIT1 (also known as CCM1), CCM2 (also known as OSM and malcavernin) or PDCD10 (also known as CCM3) cause cerebral cavernous malformations (CCMs). These abnormalities are characterized by dilated leaky blood vessels, especially in the neurovasculature, that result in increased risk of stroke, focal neurological defects and seizures. The three CCM proteins can exist in a trimeric complex, and each of these essential multi-domain adaptor proteins also interacts with a range of signaling, cytoskeletal and adaptor proteins, presumably accounting for their roles in a range of basic cellular processes including cell adhesion, migration, polarity and apoptosis. In this Cell Science at a Glance article and the accompanying poster, we provide an overview of current models of CCM protein function focusing on how known protein-protein interactions might contribute to cellular phenotypes and highlighting gaps in our current understanding. PMID:24481819

  15. Benign Vascular Malformation at the Ischial Tuberosity.

    PubMed

    Said, Rami; Bevelaqua, Anna-Christina

    2016-07-01

    A 31-year-old female student was referred to physical therapy with a chief complaint of proximal, posterior left thigh pain that began insidiously 12 months prior, and progressively worsened while training for a half-marathon. A mobile, soft mass was identified just inferior to the ischial tuberosity that was tender and painful to palpation, recreating the patient's chief complaint. Radiographic findings were negative for a suspected avulsion fracture at the ischial tuberosity. Therefore, the physician performed musculoskeletal ultrasonography, which revealed a superficial hypoechoic mass with vascular flow. Magnetic resonance imaging and a subsequent biopsy led to the diagnosis of a benign vascular malformation. J Orthop Sports Phys Ther 2016;46(7):607. doi:10.2519/jospt.2016.0410. PMID:27363574

  16. Multimodal device for assessment of skin malformations

    NASA Astrophysics Data System (ADS)

    Bekina, A.; Garancis, V.; Rubins, U.; Spigulis, J.; Valeine, L.; Berzina, A.

    2013-11-01

    A variety of multi-spectral imaging devices is commercially available and used for skin diagnostics and monitoring; however, an alternative cost-efficient device can provide an advanced spectral analysis of skin. A compact multimodal device for diagnosis of pigmented skin lesions was developed and tested. A polarized LED light source illuminates the skin surface at four different wavelengths - blue (450 nm), green (545 nm), red (660 nm) and infrared (940 nm). Spectra of reflected light from the 25 mm wide skin spot are imaged by a CMOS sensor. Four spectral images are obtained for mapping of the main skin chromophores. The specific chromophore distribution differences between different skin malformations were analyzed and information of subcutaneous structures was consecutively extracted.

  17. Diagnosis and management of pulmonary arteriovenous malformations

    PubMed Central

    Papagiannis, J; Apostolopoulou, S; Sarris, GE; Rammos, S

    2002-01-01

    Pulmonary arteriovenous malformation is a rare anomaly that presents in several different ways. It can present as an isolated finding, or more often in the context of hereditary haemorrhagic telangiectasia. It can also complicate palliative surgery such as the Glenn operation for complex congenital heart disease with single ventricle physiology. Its management includes transcatheter embolization, which is the preferred mode of therapy, surgery (including resection of the affected lobe, segment, or the fistula itself), or rarely, medical therapy. Complications of the disease itself and of various modes of treatment are relatively common, and patients require close surveillance for possible recurrence, or development of new fistulas. In cases related to the Glenn operation, redirection of hepatic venous flow or heart transplantation may cure the problem. PMID:22368610

  18. The Vestibulo-ocular Reflex During Active Head Motion in Chiari II Malformation

    PubMed Central

    Salman, Michael S.; Sharpe, James A.; Lillakas, Linda; Dennis, Maureen; Steinbach, Martin J.

    2008-01-01

    Background Chiari type II malformation (CII) is a developmental anomaly of the cerebellum and brainstem, which are important structures for processing the vestibulo-ocular reflex (VOR). We investigated the effects of the deformity of CII on the angular VOR during active head motion. Methods Eye and head movements were recorded using an infrared eye tracker and magnetic head tracker in 20 participants with CII [11 males, age range 8-19 years, mean (SD) 14.4 (3.2) years]. Thirty-eight age-matched healthy children and adolescents (21 males) constituted the control group. Participants were instructed to ‘look’ in darkness at the position of their thumb, placed 25 cm away, while they made horizontal and vertical sinusoidal head rotations at frequencies of about 0.5 Hz and 2 Hz. Parametric and non-parametric tests were used to compare the two groups. Results The VOR gains, the ratio of eye to head velocities, were abnormally low in two participants with CII and abnormally high in one participant with CII. Conclusion The majority of participants with CII had normal VOR performance in this investigation. However, the deformity of CII can impair the active angular VOR in some patients with CII. Low gain is attributed to brainstem damage and high gain to cerebellar dysfunction. PMID:18973069

  19. Neurogenic dysphagia resulting from Chiari malformations.

    PubMed

    Pollack, I F; Pang, D; Kocoshis, S; Putnam, P

    1992-05-01

    Between 1980 and 1989, 15 of 46 patients (11 children, 4 adults) who underwent suboccipital craniectomy and cervical laminectomy for symptomatic Chiari malformations presented with manifestations of neurogenic dysphagia. Each of these patients had normal swallowing function before the development of dysphagic symptoms. Dysphagia was progressive in all 15 and, in most cases, preceded the onset of other severe brain stem signs. The rate of symptom progression varied depending on the age of the patient. Whereas the six infants (all Chiari II) deteriorated rapidly after the onset of initial symptoms, the five older children (two Chiari I, three Chiari II) and four adults (all Chiari I) showed a more gradual deterioration. In 11 patients with severe dysphagia, barium video esophagograms, pharyngoesophageal motility studies, continuous esophageal pH monitoring, and appropriate scintigraphic studies were useful in defining the scope of the swallowing impairment and determining whether perioperative nasogastric or gastrostomy feedings, gastric fundoplication, and/or tracheostomy were needed to maintain adequate nutrition and avoid aspiration. These patients all had widespread dysfunction of the swallowing mechanism, with a combination of diffuse pharyngoesophageal dysmotility, cricopharyngeal achalasia, nasal regurgitation, tracheal aspiration, and gastroesophageal reflux. The pathophysiology of these swallowing impairments and their relation to the hindbrain malformation is discussed. Postoperative outcome with regard to swallowing function correlated with the severity of preoperative symptoms. The four patients with mild dysphagia showed rapid improvement in swallowing function after surgery. Seven patients with more severe impairment but without other signs of severe brain stem compromise, such as central apnea or complete bilateral vocal cord paralysis, also improved, albeit more slowly. In contrast, the outcome in the four patients who developed other signs of severe

  20. Amplatzer vascular plugs in congenital cardiovascular malformations

    PubMed Central

    Barwad, Parag; Ramakrishnan, Sivasubramanian; Kothari, Shyam S; Saxena, Anita; Gupta, Saurabh K; Juneja, Rajnish; Gulati, Gurpreet Singh; Jagia, Priya; Sharma, Sanjiv

    2013-01-01

    Background: Amplatzer vascular plugs (AVPs) are devices ideally suited to close medium-to-large vascular communications. There is limited published literature regarding the utility of AVPs in congenital cardiovascular malformations (CCVMs). Aims: To describe the use of AVPs in different CCVMs and to evaluate their safety and efficacy. Materials and Methods: All patients who required an AVP for the closure of CCVM were included in this retrospective review of our catheterization laboratory data. The efficacy and safety of AVPs are reported. Results: A total of 39 AVPs were implanted in 31 patients. Thirteen (33%) were AVP type I and 23 (59%) were AVP type II. AVP type III were implanted in two patients and type IV in one patient. The major indications for their use included closure of pulmonary arteriovenous malformation (AVM) (n = 7), aortopulmonary collaterals (n = 7), closure of a patent Blalock-Taussig shunt (n = 5), systemic AVM (n = 5), coronary AVM (n = 4), patent ductus arteriosus (PDA) (n = 3), pulmonary artery aneurysms (n = 3), and venovenous collaterals (n = 2). Deployment of the AVP was done predominantly via the 5 – 7F Judkin's right coronary guide catheter. Overall 92% of the AVPs could be successfully deployed and resulted in occlusion of the target vessel in all cases, within 10 minutes. No procedure-related or access site complication occurred. Conclusions: AVPs are versatile, easy to use, and effective devices to occlude the vascular communications in a variety of settings. AVP II is especially useful in the closure of tubular structures with a high flow. PMID:24688229

  1. Lasik eye surgery - discharge

    MedlinePlus

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  1. [Familial syndrome combining short small intestine, intestinal malrotation, pyloric hypertrophy and brain malformation. 3 anatomoclinical case reports].

    PubMed

    Nezelof, C; Jaubert, F; Lyon, G

    1976-01-01

    Anatomoclinical study of 3 cases of an exceptional malformative condition characterized by: --extreme shortness of the small intestine, --mesenterium commune, --hypertrophic pylorus, --malformation of the central nervous system (heterotopia, absence of operculum temporale). Clinically this malformative condition is characterized by failure and inertia of the intestinal peristalsis producing at intervals of 10-15 days episodes of subocclusion, the repetition of which causes death. The syndrome is familial and seems to be of autosomal recessive inheritance. The absence of mechanical obstruction, the repeated failure of colostomy and ileostomy, the normal aspect of the myenteric plexuses verified by cytoenzymatic and silver stains allow to individualize this anatomoclinical syndrome and to rule out the hypothesis of Hirschsprung's disease, Chagas' disease, idiopathic megacolon or hypoplasia of the myenteric plexuses. The association of cerebral malformations leads to consider the responsibility of a lack of synthesis of a same specific intermediate factor which is up to now poorly determined, implicated in the neuronal migration and neuromuscular transmission. PMID:1023783

  2. Congenital malformations and perinatal morbidity associated with intestinal neuronal dysplasia.

    PubMed

    Berger, S; Ziebell, P; OFFsler, M; Hofmann-von Kap-herr, S

    1998-09-01

    A close relation between different forms of dysganglionosis such as intestinal neuronal dysplasia (IND) type B and aganglionosis has been established. No systematic analysis of other malformations and diseases accompanying IND has been made as yet. Congenital malformations and perinatal morbidity were analyzed in 109 patients with IND seen at the Department of Pediatric Surgery in Mainz from 1977 to 1996. IND was associated with Hirschsprung's disease in 47 cases; 22 children with IND had other abdominal malformations, including anal atresia, rectal stenosis, sigmoidal stenosis, ileal atresia, pyloric stenosis, and esophageal atresia. A cystic bowel duplication, a choledochal cyst, and a persisting urachus were also found. Extra-abdominal malformations such as Down's syndrome, congenital diaphragmatic hernia, aortic stenosis, and malformations of vertebral bodies were seen. Twin siblings of children with IND were either healthy (n=3) or died in utero (n=1). Seventeen children with IND developed severe intra-abdominal complications during the perinatal period such as necrotizing enterocolitis (NEC), meconium ileus, or bowel perforations. NEC was frequently associated with preterm birth. Bowel perforations were seen in mature and preterm newborns with IND. Taken together, IND is found in a variety of obstructive bowel diseases. This may support the hypothesis that IND is a secondary phenomenon or that congenital atresias and stenoses of the digestive tract have a pathogenesis similar to that of intestinal innervation disturbances. IND may also be a part of complex malformation patterns since it occurs with a number of extraintestinal and non-obstructive intestinal malformations. PMID:9716673

  3. A developmental and genetic classification for midbrain-hindbrain malformations

    PubMed Central

    Millen, Kathleen J.; Dobyns, William B.

    2009-01-01

    Advances in neuroimaging, developmental biology and molecular genetics have increased the understanding of developmental disorders affecting the midbrain and hindbrain, both as isolated anomalies and as part of larger malformation syndromes. However, the understanding of these malformations and their relationships with other malformations, within the central nervous system and in the rest of the body, remains limited. A new classification system is proposed, based wherever possible, upon embryology and genetics. Proposed categories include: (i) malformations secondary to early anteroposterior and dorsoventral patterning defects, or to misspecification of mid-hindbrain germinal zones; (ii) malformations associated with later generalized developmental disorders that significantly affect the brainstem and cerebellum (and have a pathogenesis that is at least partly understood); (iii) localized brain malformations that significantly affect the brain stem and cerebellum (pathogenesis partly or largely understood, includes local proliferation, cell specification, migration and axonal guidance); and (iv) combined hypoplasia and atrophy of putative prenatal onset degenerative disorders. Pertinent embryology is discussed and the classification is justified. This classification will prove useful for both physicians who diagnose and treat patients with these disorders and for clinical scientists who wish to understand better the perturbations of developmental processes that produce them. Importantly, both the classification and its framework remain flexible enough to be easily modified when new embryologic processes are described or new malformations discovered. PMID:19933510

  4. Outcome of cochlear implantation in children with cochlear malformations.

    PubMed

    Bille, Jesper; Fink-Jensen, Vibeke; Ovesen, Therese

    2015-03-01

    The objective of the study was the evaluation of outcomes of cochlear implantation (CI) in children with cochlear malformations. A retrospective case-control study was conducted in a tertiary referral centre. The patients were children with inner ear malformation judged by high-resolution computed tomography and magnetic resonance imaging treated with uni- or bilateral CI and a follow-up period of at least 3 years. They were matched with a control group of children operated for other reasons. The patients were operated by one of two surgeons using similar techniques including a standard perimodiolar electrode in all cases. The intervention was therapeutic and rehabilitative. The main outcome measures were category of auditory performance (CAP) and speech intelligibility rating (SIR). Eighteen children were diagnosed with cochlear malformations (12 % of children receiving CI). No statistical differences regarding CAP and SIR scores were found between the two groups. Only one child was diagnosed with a common cavity and performed below average. Children with auditory neuropathy performed beyond average. Children with cochlear malformations performed equally to children without malformation in the long term. Standard perimodiolar electrodes can be used despite cochlear malformations. The most important factors determining the outcome is the age of the child at the time of implantation and duration of hearing loss before CI. Awareness towards an increased risk of complications in case of inner ear malformations is recommended. PMID:24407715

  5. Maternal Hypothyroidism in Early Pregnancy and Infant Structural Congenital Malformations

    PubMed Central

    Norstedt Wikner, Birgitta

    2014-01-01

    Background. The question is debated on whether maternal hypothyroidism or use of thyroxin in early pregnancy affects the risk for infant congenital malformations. Objectives. To expand the previously published study on maternal thyroxin use in early pregnancy and the risk for congenital malformations. Methods. Data from the Swedish Medical Birth Register were used for the years 1996–2011 and infant malformations were identified from national health registers. Women with preexisting diabetes or reporting the use of thyreostatics, anticonvulsants, or antihypertensives were excluded from analysis. Risk estimates were made as odds ratios (ORs) or risk ratios (RRs) after adjustment for year of delivery, maternal age, parity, smoking, and body mass index. Results. Among 23 259 infants whose mothers in early pregnancy used thyroxin, 730 had a major malformation; among all 1 567 736 infants, 48012 had such malformations. The adjusted OR was 1.06 (95% CI 0.98–1.14). For anal atresia the RR was 1.85 (95% CI 1.00–1.85) and for choanal atresia 3.14 (95% CI 1.26–6.47). The risk of some other malformations was also increased but statistical significance was not reached. Conclusions. Treated maternal hypothyroidism may be a weak risk factor for infant congenital malformations but an association with a few rare conditions is possible. PMID:24744955

  6. Get Your Eyes Tested

    MedlinePlus

    ... over age 40 Have a family history of glaucoma Have diabetes People with diabetes may need eye exams more ... or if you have a family member with diabetes or an eye disease. Eye diseases like glaucoma can lead to vision loss and blindness if ...

  7. Dwarf Eye Disorder

    ERIC Educational Resources Information Center

    Science Teacher, 2005

    2005-01-01

    Johns Hopkins researchers at the Wilmer Eye Institute have discovered what appears to be the first human gene mutation that causes extreme farsightedness. The researchers report that nanophthalmos, Greek for "dwarf eye," is a rare, potentially blinding disorder caused by an alteration in a gene called MFRP that helps control eye growth and…

  8. Laser eye protection for flight personnel.

    PubMed

    Chisum, G T

    1979-03-01

    Developments in laser technology have resulted in an expanding use of lasers in many field and laboratory situations. The implications of the use of lasers in military applications have been examined for flight personnel, and the requirement for eye protection determined. Recommendations for methods of providing that protection are made. PMID:454323

  9. Neurosurgical management of congenital malformations of the brain.

    PubMed

    Hervey-Jumper, Shawn L; Cohen-Gadol, Aaron A; Maher, Cormac O

    2011-08-01

    Congenital malformations encompass a diverse group of disorders that often present at birth, either as the result of genetic abnormalities, infection, errors of morphogenesis, or abnormalities in the intrauterine environment. Congenital disorders affecting the brain are now often diagnosed before delivery with the use of prenatal ultrasonography. Over the past several decades, there have been major advances in the understanding and management of these conditions. This review focuses on the most common cranial congenital malformations, limiting the discussion to the neurosurgically relevant aspects of arachnoid cysts, pineal cysts, Chiari malformations, and encephaloceles. PMID:21807319

  10. US and MRI features in venous vascular malformation of the abdominal wall. A case report

    PubMed Central

    Alessandrino, F.; Maira, A.; Tarantino, C.C.

    2012-01-01

    Vascular anomalies are classified as vascular tumors and vascular malformations. Venous vascular malformations are the most common type of vascular malformation. They may be isolated or multiple and they rarely affect the trunk. The authors report a rare case of isolated venous vascular malformation of the abdominal wall with an emphasis on the related MRI and ultrasound (US) features. PMID:23450707

  11. RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome.

    PubMed

    Macmurdo, Colleen F; Wooderchak-Donahue, Whitney; Bayrak-Toydemir, Pinar; Le, Jenny; Wallenstein, Matthew B; Milla, Carlos; Teng, Joyce M C; Bernstein, Jonathan A; Stevenson, David A

    2016-06-01

    Germline mutations in RASA1 are associated with capillary malformation-arteriovenous malformation (CM-AVM) syndrome. CM-AVM syndrome is characterized by multi-focal capillary malformations and arteriovenous malformations. Lymphatic anomalies have been proposed as part of the phenotype. Intrafamilial variability has been reported, suggesting modifiers and somatic events. The objective of the study was to identify somatic RASA1 "second hits" from vascular malformations associated with CM-AVM syndrome, and describe phenotypic variability. Participants were examined and phenotyped. Genomic DNA was extracted from peripheral blood on all participants. Whole-exome sequencing was performed on the proband. Using Sanger sequencing, RASA1 exon 8 was PCR-amplified to track the c.1248T>G, p.Tyr416X germline variant through the family. A skin biopsy of a capillary malformation from the proband's mother was also obtained, and next-generation sequencing was performed on DNA from the affected tissue. A familial germline heterozygous novel pathogenic RASA1 variant, c.1248T>G (p.Tyr416X), was identified in the proband and her mother. The proband had capillary malformations, chylothorax, lymphedema, and overgrowth, while her affected mother had only isolated capillary malformations. Sequence analysis of DNA extracted from a skin biopsy of a capillary malformation of the affected mother showed a second RASA1 somatic mutation (c.2245C>T, p.Arg749X). These results and the extreme variable expressivity support the hypothesis that somatic "second hits" are required for the development of vascular anomalies associated with CM-AVM syndrome. In addition, the phenotypes of the affected individuals further clarify that lymphatic manifestations are also part of the phenotypic spectrum of RASA1-related disorders. © 2016 Wiley Periodicals, Inc. PMID:26969842

  12. MALLEABLE INSPECTION STATION WHERE WORKERS ELIMINATE MALFORMED CASTINGS AND SEPARATED ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    MALLEABLE INSPECTION STATION WHERE WORKERS ELIMINATE MALFORMED CASTINGS AND SEPARATED GOOD CASTINGS PRIOR TO ANNEALING. - Stockham Pipe & Fittings Company, Malleable Annealing Building, 4000 Tenth Avenue North, Birmingham, Jefferson County, AL

  13. Optic chiasmal cavernous angioma: A rare suprasellar vascular malformation

    PubMed Central

    Abou-Al-Shaar, Hussam; Bahatheq, Ayman; Takroni, Radwan; Al-Thubaiti, Ibrahim

    2016-01-01

    Background: Suprasellar cavernous malformation in the optic pathway is not commonly encountered. To date, there are only few reports present in the literature. Case Description: The authors report a rare case of suprasellar optic pathway cavernous malformation in a 33-year-old female who presented with progressive visual loss. Her imaging revealed a large heterogeneous, hyperintense, hemorrhagic right suprasellar extra-axial complex cystic structure, causing mass effect on the adjacent hypothalamus and third ventricle displacing these structures. Gross total resection of the lesion was achieved utilizing a right frontal craniotomy approach. Histopathological examination confirmed the diagnosis of suprasellar chiasmal cavernous malformation. Conclusion: Although visual pathway cavernous malformation is a rare event, it should be included in the differential diagnosis of lesions occurring suprasellarly in the visual pathway and hypothalamus. PMID:27583178

  14. Variants in CUL4B are Associated with Cerebral Malformations

    PubMed Central

    Vulto-van Silfhout, Anneke T.; Nakagawa, Tadashi; Bahi-Buisson, Nadia; Haas, Stefan A.; Hu, Hao; Bienek, Melanie; Vissers, Lisenka E.L.M.; Gilissen, Christian; Tzschach, Andreas; Busche, Andreas; Müsebeck, Jörg; Rump, Patrick; Mathijssen, Inge B.; Avela, Kristiina; Somer, Mirja; Doagu, Fatma; Philips, Anju K.; Rauch, Anita; Baumer, Alessandra; Voesenek, Krysta; Poirier, Karine; Vigneron, Jacqueline; Amram, Daniel; Odent, Sylvie; Nawara, Magdalena; Obersztyn, Ewa; Lenart, Jacek; Charzewska, Agnieszka; Lebrun, Nicolas; Fischer, Ute; Nillesen, Willy M.; Yntema, Helger G.; Järvelä, Irma; Ropers, Hans-Hilger; de Vries, Bert B.A.; Brunner, Han G.; van Bokhoven, Hans; Raymond, F. Lucy; Willemsen, Michèl A.A.P.; Chelly, Jamel; Xiong, Yue; Barkovich, A. James; Kalscheuer, Vera M.; Kleefstra, Tjitske; de Brouwer, Arjan P.M.

    2015-01-01

    Variants in cullin 4B (CUL4B) are a known cause of syndromic X-linked intellectual disability. Here, we describe an additional 25 patients from 11 families with variants in CUL4B. We identified nine different novel variants in these families and confirmed the pathogenicity of all nontruncating variants. Neuroimaging data, available for 15 patients, showed the presence of cerebral malformations in ten patients. The cerebral anomalies comprised malformations of cortical development (MCD), ventriculomegaly, and diminished white matter volume. The phenotypic heterogeneity of the cerebral malformations might result from the involvement of CUL-4B in various cellular pathways essential for normal brain development. Accordingly, we show that CUL-4B interacts with WDR62, a protein in which variants were previously identified in patients with microcephaly and a wide range of MCD. This interaction might contribute to the development of cerebral malformations in patients with variants in CUL4B. PMID:25385192

  15. Genetics Home Reference: multiple cutaneous and mucosal venous malformations

    MedlinePlus

    ... These abnormal blood vessels show a deficiency of smooth muscle cells while endothelial cells are maintained. Venous malformations cause lesions below the surface of the skin or mucous membranes, which are ...

  16. Contracted foal syndrome associated with multiple malformations in two foals.

    PubMed

    Binanti, D; Zani, D D; De Zani, D; Turci, T; Zavaglia, G; Riccaboni, P

    2014-02-01

    Congenital anomalies in horses are very rare, and contracted foal syndrome is one of the most commonly reported. This malformation is characterized by contraction of the joints of the forelimbs and/or hindlimbs. In addition, the syndrome can be characterized by vertebral column malformations, such as scoliosis or torticollis, and cranial deformity. The present report describes the radiological and necroscopical findings of multiple rare malformations in two foals. Both foals showed skeletal abnormalities and fenestration of the abdominal cavity. Other pathological findings include a interventricular septal defect in one and a unilateral hydronephrosis and partial hydroureter in the other foal. Although in this report a specific aetiology could not be provided, insecticides treatment provided during the second month of pregnancy might play a role in the pathogenesis of these malformations. PMID:23406278

  17. Infertility, infertility treatment, and congenital malformations: Danish national birth cohort

    PubMed Central

    Zhu, Jin Liang; Basso, Olga; Obel, Carsten; Bille, Camilla; Olsen, Jørn

    2006-01-01

    Objectives To examine whether infertile couples (with a time to pregnancy of > 12 months), who conceive naturally or after treatment, give birth to children with an increased prevalence of congenital malformations. Design Longitudinal study. Setting Danish national birth cohort. Participants Three groups of liveborn children and their mothers: 50 897 singletons and 1366 twins born of fertile couples (time to pregnancy ≤ 12 months), 5764 singletons and 100 twins born of infertile couples who conceived naturally (time to pregnancy > 12 months), and 4588 singletons and 1690 twins born after infertility treatment. Main outcome measures Prevalence of congenital malformations determined from hospital discharge diagnoses. Results Compared with singletons born of fertile couples, singletons born of infertile couples who conceived naturally or after treatment had a higher prevalence of congenital malformations—hazard ratios 1.20 (95% confidence interval 1.07 to 1.35) and 1.39 (1.23 to 1.57). The overall prevalence of congenital malformations increased with increasing time to pregnancy. When the analysis was restricted to singletons born of infertile couples, babies born after treatment had an increased prevalence of genital organ malformations (hazard ratio 2.32, 1.24 to 4.35) compared with babies conceived naturally. No significant differences existed in the overall prevalence of congenital malformations among twins. Conclusions Hormonal treatment for infertility may be related to the occurrence of malformations of genital organs, but our results suggest that the reported increased prevalence of congenital malformations seen in singletons born after assisted reproductive technology is partly due to the underlying infertility or its determinants. The association between untreated infertility and congenital malformations warrants further examination. PMID:16893903

  18. Pulmonary arteriovenous malformation in chronic thromboembolic pulmonary hypertension

    PubMed Central

    Sharma, Arun; Gulati, Gurpreet S; Parakh, Neeraj; Aggarwal, Abhinav

    2016-01-01

    Chronic thromboembolic pulmonary hypertension is a morbid condition associated with complications such as hemoptysis, right heart failure, paradoxical embolism, and even death. There is no known association of chronic thromboembolic pulmonary hypertension with pulmonary arteriovenous malformation. Possible hypothesis for this association is an increased pulmonary vascular resistance leading to the compensatory formation of pulmonary arteriovenous malformation. We present one such case presenting with hemoptysis that was managed with endovascular treatment. PMID:27413264

  19. Multiple medullary venous malformations decreasing cerebral blood flow: Case report

    SciTech Connect

    Tomura, N.; Inugami, A.; Uemura, K.; Hadeishi, H.; Yasui, N. )

    1991-02-01

    A rare case of multiple medullary venous malformations in the right cerebral hemisphere is reported. The literature review yielded only one case of multiple medullary venous malformations. Computed tomography scan showed multiple calcified lesions with linear contrast enhancement representing abnormal dilated vessels and mild atrophic change of the right cerebral hemisphere. Single-photon emission computed tomography using N-isopropyl-p-({sup 123}I) iodoamphetamine demonstrated decreased cerebral blood flow in the right cerebral hemisphere.

  20. Oral encapsulated vascular malformation: An undescribed presentation in the mouth

    PubMed Central

    Dias, Márcio-Américo; Dias, Pedro-de Souza; Martínez-Martínez, Marisol; Sena-Filho, Marcondes; de Almeida, Oslei-Paes

    2016-01-01

    Vascular lesions have been classified in two broad categories, hemangiomas and malformations. Encapsulated vascular lesions have not been reported in the oral cavity, but they were described in other sites, mainly in the orbit. Herein, we present a case of an oral encapsulated vascular lesion located in the right buccal mucosa of a 69-year-old male, including histological and immunohistochemical description and a literature review. Key words:Buccal mucosa, hemangioma, vascular malformation, oral cavity. PMID:26855712

  1. Tuning Eye-Gaze Perception by Transitory STS Inhibition.

    PubMed

    Saitovitch, Ana; Popa, Traian; Lemaitre, Hervé; Rechtman, Elza; Lamy, Jean-Charles; Grévent, David; Calmon, Raphael; Meunier, Sabine; Brunelle, Francis; Samson, Yves; Boddaert, Nathalie; Zilbovicius, Monica

    2016-06-01

    Processing eye-gaze information is a key step to human social interaction. Neuroimaging studies have shown that superior temporal sulcus (STS) is highly implicated in eye-gaze perception. In autism, a lack of preference for the eyes, as well as anatomo-functional abnormalities within the STS, has been described. To date, there are no experimental data in humans showing whether it is possible to interfere with eye-gaze processing by modulating STS neural activity. Here, we measured eye-gaze perception before and after inhibitory transcranial magnetic stimulation (TMS) applied over the posterior STS (pSTS) in young healthy volunteers. Eye-gaze processing, namely overt orienting toward the eyes, was measured using eye tracking during passive visualization of social movies. Inhibition of the right pSTS led participants to look less to the eyes of characters during visualization of social movies. Such effect was specific for the eyes and was not observed after inhibition of the left pSTS nor after placebo TMS. These results indicate for the first time that interfering with the right pSTS neural activity transitorily disrupts the behavior of orienting toward the eyes and thus indirectly gaze perception, a fundamental process for human social cognition. These results could open up new perspectives in therapeutic interventions in autism. PMID:26946130

  2. Tuning Eye-Gaze Perception by Transitory STS Inhibition

    PubMed Central

    Saitovitch, Ana; Popa, Traian; Lemaitre, Hervé; Rechtman, Elza; Lamy, Jean-Charles; Grévent, David; Calmon, Raphael; Meunier, Sabine; Brunelle, Francis; Samson, Yves; Boddaert, Nathalie; Zilbovicius, Monica

    2016-01-01

    Processing eye-gaze information is a key step to human social interaction. Neuroimaging studies have shown that superior temporal sulcus (STS) is highly implicated in eye-gaze perception. In autism, a lack of preference for the eyes, as well as anatomo-functional abnormalities within the STS, has been described. To date, there are no experimental data in humans showing whether it is possible to interfere with eye-gaze processing by modulating STS neural activity. Here, we measured eye-gaze perception before and after inhibitory transcranial magnetic stimulation (TMS) applied over the posterior STS (pSTS) in young healthy volunteers. Eye-gaze processing, namely overt orienting toward the eyes, was measured using eye tracking during passive visualization of social movies. Inhibition of the right pSTS led participants to look less to the eyes of characters during visualization of social movies. Such effect was specific for the eyes and was not observed after inhibition of the left pSTS nor after placebo TMS. These results indicate for the first time that interfering with the right pSTS neural activity transitorily disrupts the behavior of orienting toward the eyes and thus indirectly gaze perception, a fundamental process for human social cognition. These results could open up new perspectives in therapeutic interventions in autism. PMID:26946130

  3. Sincipital Encephaloceles: A Study of Associated Brain Malformations

    PubMed Central

    Achar, Shashidhar Vedavyas; Dutta, Hemonta Kumar

    2016-01-01

    Objective: The aim of this study was to evaluate the associated intracranial malformations in patients with sincipital encephaloceles. Materials and Methods: A hospital-based cross-sectional study was conducted over 8 years from June 2007 to May 2015 on 28 patients. The patients were evaluated by either computed tomography or magnetic resonance imaging whichever was feasible. Encephaloceles were described with respect to their types, contents, and extensions. A note was made on the associated malformations with sincipital encephaloceles. Results: Fifty percent of the patients presented before the age of 3 years and both the sexes were affected equally. Nasofrontal encephalocele was the most common type seen in 13 patients (46.4%), and corpus callosal agenesis (12 patients) was the most common associated malformation. Other malformations noted were arachnoid cyst (10 patients), hydrocephalus (7 patients), and agyria-pachygyria complex (2 patients). Conclusion: Capital Brain malformations are frequently encountered in children with sincipital encephaloceles. Detail radiological evaluation is necessary to plan treatment and also to prognosticate such rare malformations. PMID:27313974

  4. Giant cystic cerebral cavernous malformation with multiple calcification - case report.

    PubMed

    Kim, Il-Chun; Kwon, Ki-Young; Rhee, Jong-Joo; Lee, Jong-Won; Hur, Jin-Woo; Lee, Hyun-Koo

    2013-09-01

    Cerebral cavernous malformation with giant cysts is rare and literature descriptions of its clinical features are few. In this case study, the authors describe the clinical symptoms, radiological findings, and pathological diagnosis of cerebral cavernous malformations with giant cysts, reviewing the relevant literature to clearly differentiate this from other disease entities. The authors present a case of a 19-year-old male with a giant cystic cavernous malformation, who was referred to the division of neurosurgery due to right sided motor weakness (grade II/II). Imaging revealed a large homogenous cystic mass, 7.2×4.6×6 cm in size, in the left fronto-parietal lobe and basal ganglia. The mass had an intra-cystic lesion, abutting the basal portion of the mass. The initial diagnosis considered this mass a glioma or infection. A left frontal craniotomy was performed, followed by a transcortical approach to resect the mass. Total removal was accomplished without post-operative complications. An open biopsy and a histopathological exam diagnosed the mass as a giant cystic cavernous malformation. Imaging appearances of giant cavernous malformations may vary. The clinical features, radiological features, and management of giant cavernous malformations are described based on pertinent literature review. PMID:24167810

  5. Bone deformities and skeletal malformations in the Roman Imperial Age.

    PubMed

    Minozzi, Simona; Catalano, Paola; Pantano, Walter; Caldarini, Carla; Fornaciari, Gino

    2014-01-01

    This paper describes some cases of individuals affected by skeletal deformities resulting in "freak" appearance. The skeletal remains were found during large archaeological excavations in the Roman territory, carried out by the Special Superintendence to the Archeological Heritage of Rome in the last years, dated back to the Imperial Age. The first cases reported are referred to two growth disorders with opposite effects: a case of dwarfism and another of gigantism. The former concerns a young man from the Collatina necropolis with very short and malformed limbs, which allowed a diagnosis of acondroplasic dwarfism, a rare congenital disorder that limits height below 130 cm. The latter case comes from the necropolis of Torre Serpentana in Fidenae, and is instead referred to a young person of very high stature, about 204 cm, suffering from Gigantism, a rare condition which in this case seems to have been linked to a hormonal dysfunction due to a pituitary adenoma. A third case regards a joint disease affecting the vertebral column and causing severe deformities. The skeleton was found in the Collatina necropolis and belongs to an old woman, suffering from ankylosing spondylitis. Finally, the last and very peculiar case is related to an individual recovered in the necropolis of Castel Malnome. The skeletal remains belong to an adult man with a complete fusion of the temporo-mandibular joint, which compromised mastication and caused severe deformation of the maxillofacial complex. These cases are described in detail together with the possible implications that these deformities could have on in the social context. PMID:25702379

  6. Partial tetrasomy 14 associated with multiple malformations.

    PubMed

    Winberg, Johanna; Lagerstedt Robinson, Kristina; Naess, Karin; Lesko, Nicole; Wibom, Rolf; Liedén, Agne; Anderlid, Britt-Marie; Graff, Caroline; Nordenskjöld, Agneta; Nordgren, Ann; Gustavsson, Peter

    2013-06-01

    We report on an 8-year-old female patient with multiple malformations including bilateral cleft lip and palate, coloboma, and craniosynostosis. She presented with severe intellectual disability, seizures, and gastrointestinal dysfunction. Mitochondrial investigations in a muscle biopsy revealed reduced activity in complex I of the mitochondrial respiratory chain. Chromosome analysis and fluorescent in situ hybridization (FISH) studies showed an isodicentric marker chromosome 14 that was identified in all cells analyzed in peripheral blood lymphocytes and cultured fibroblasts. Parental chromosome studies were normal. To further characterize the marker chromosome and determine its origin, we performed array-based comparative genomic hybridization (CGH) and polymorphic marker analysis with quantitative fluorescent PCR (QF-PCR). The combined results from cytogenetic and array-CGH analyses showed tetrasomy 14p13q13.1 and results from the QF-PCR point to formation of the marker chromosome in the maternal meiosis. Isodicentric chromosomes involving partial 14q have previously been reported in four cases; however, this is the first patient with tetrasomy 14p13q13.1 in non-mosaic form surviving beyond infancy. PMID:23613323

  7. Gastroesophageal reflux and congenital gastrointestinal malformations.

    PubMed

    Marseglia, Lucia; Manti, Sara; D'Angelo, Gabriella; Gitto, Eloisa; Salpietro, Carmelo; Centorrino, Antonio; Scalfari, Gianfranco; Santoro, Giuseppe; Impellizzeri, Pietro; Romeo, Carmelo

    2015-07-28

    Although the outcome of newborns with surgical congenital diseases (e.g., diaphragmatic hernia; esophageal atresia; omphalocele; gastroschisis) has improved rapidly with recent advances in perinatal intensive care and surgery, infant survivors often require intensive treatment after birth, have prolonged hospitalizations, and, after discharge, may have long-term sequelae including gastro-intestinal comorbidities, above all, gastroesophageal reflux (GER). This condition involves the involuntary retrograde passage of gastric contents into the esophagus, with or without regurgitation or vomiting. It is a well-recognized condition, typical of infants, with an incidence of 85%, which usually resolves after physiological maturation of the lower esophageal sphincter and lengthening of the intra-abdominal esophagus, in the first few months after birth. Although the exact cause of abnormal esophageal function in congenital defects is not clearly understood, it has been hypothesized that common (increased intra-abdominal pressure after closure of the abdominal defect) and/or specific (e.g., motility disturbance of the upper gastrointestinal tract, damage of esophageal peristaltic pump) pathological mechanisms may play a role in the etiology of GER in patients with birth defects. Improvement of knowledge could positively impact the long-term prognosis of patients with surgical congenital diseases. The present manuscript provides a literature review focused on pathological and clinical characteristics of GER in patients who have undergone surgical treatment for congenital abdominal malformations. PMID:26229394

  8. [Urinary tract abnormalities associated with anorectal malformations].

    PubMed

    Tohda, A; Hosokawa, S; Shimada, K

    1995-08-01

    Anorectal malformation (ARM) is often associated with urological problems such as congenital urogenital anomalies, recto-urinary fistula, neurogenic bladder due to vertebral anomalies and operative complications. We analyzed 57 cases of ARM and discussed about the management of associated urogenital anomalies during neonatal and infantile period. The incidence of urogenital anomalies was 85.7% in high type, 65.5% in intermediate type and 38.1% in low type. Among these urinary tract anomalies, VUR was most common and was documented in 38.6% of ARM patients. Renal dysplasia, PUJ stenosis, megaureter and urethral stenosis was also common in these patients. Renal dysfunction was documented in 5 cases (2 in high type, 2 in intermediate and 1 in low type), mainly due to VUR and renal aplasia. These results show the need for evaluation of urinary tract during the neonatal and early infantile period even in low type ARM. The management of urinary tract anomalies associated with ARM is firmly related with the management of ARM itself, and we must be closely in co-operation with pediatric surgeons. PMID:7474624

  9. Management and outcome of low anorectal malformations.

    PubMed

    Pakarinen, Mikko P; Rintala, Risto J

    2010-11-01

    Low anorectal malformation comprises about half of all anorectal anomalies. Most of the literature concerning management of anorectal anomalies is centred around the treatment and outcome of high anomalies. The management of low anomalies has been considered significantly less challenging than high anomalies. Also, the outcome of low anomalies has traditionally been considered good. However, recent more critical long-term follow-up reports show a different picture. Many patients with low anomalies suffer from long-term anorectal functional problems, especially constipation but also soiling that occurs in a significant percentage of patients. In this review, we compile the recent views on the diagnosis, surgical treatment and outcome of low anorectal anomalies. We also present an algorithm for the management of these anomalies. The emphasis on the surgical management of low anorectal anomalies is to use as minimally invasive operative methods as possible and preserve the native mechanisms of continence that usually are much better preserved than in more severe high anomalies. PMID:20845044

  10. [Stereotactically targeted radiotherapy of cerebral arteriovenous malformations].

    PubMed

    Kimmig, B; Engenhart, R; Wowra, B; Höver, K H; Marin-Grez, M; Sturm, V

    1989-09-01

    A report is given about radiotherapy in 41 patients suffering from cerebral vessel anomalies. A modified linear accelerator was used in a moving field technique with multiple pendulum planes to apply single doses between 8 and 28 Gy by means of stereotaxis into the angiographically determined target volume. The medium follow-up is 23 months. The latency of radiogenic effects is between one and two years. Radiological controls with an interval of more than 18 months after therapy are available in 17 out of 41 patients. Angiographic investigation showed complete obliterations of pathological vessels in six out of these patients and partial obliterations in six patients; five patients remained unchanged. There were no acute complications. Seven patients presented neurological deficiencies with a latency of 6 to 12 months, however, in all cases but one they regressed completely. Even taking into consideration the small number of patients and the short time of observation, a comparison with the results of other radiotherapeutical proceedings allows to draw the conclusion that the presented technique of stereotaxic convergent-beam irradiation represents a relatively simple, reliable and, in case of precise indication, efficient method for the therapy of cerebral arteriovenous malformations. PMID:2678547

  11. Stereotactic radiosurgery for intramedullary spinal arteriovenous malformations.

    PubMed

    Kalani, Maziyar A; Choudhri, Omar; Gibbs, Iris C; Soltys, Scott G; Adler, John R; Thompson, Patricia A; Tayag, Armine T; Samos, Cindy H; Chang, Steven D

    2016-07-01

    Spinal cord arteriovenous malformations (AVM) are rare lesions associated with recurrent hemorrhage and progressive ischemia. Occasionally a favorable location, size or vascular anatomy may allow management with endovascular embolization and/or microsurgical resection. For most, however, there is no good treatment option. Between 1997 and 2014, we treated 37 patients (19 females, 18 males, median age 30years) at our institution diagnosed with intramedullary spinal cord AVM (19 cervical, 12 thoracic, and six conus medullaris) with CyberKnife (Accuray, Sunnyvale, CA, USA) stereotactic radiosurgery. A history of hemorrhage was present in 50% of patients. The mean AVM volume of 2.3cc was treated with a mean marginal dose of 20.5Gy in a median of two sessions. Clinical and MRI follow-up were carried out annually, and spinal angiography was repeated at 3years. We report an overall obliteration rate of 19% without any post-treatment hemorrhagic events. In those AVM that did not undergo obliteration, significant volume reduction was noted at 3years. Although the treatment paradigm for spinal cord AVM continues to evolve, radiosurgical treatment is capable of safely obliterating or significantly shrinking most intramedullary spinal cord AVM. PMID:26869363

  12. Psychosocial adjustment and craniofacial malformations in childhood.

    PubMed

    Pertschuk, M J; Whitaker, L A

    1985-02-01

    Forty-three children between the ages of 6 and 13 years with congenital facial anomalies underwent psychosocial evaluation prior to surgery. Also evaluated were healthy children matched to the craniofacial subjects by sex, age, intelligence, and economic background. Relative to this comparison group, the craniofacial children were found to have poorer self-concept, greater anxiety at the time of evaluation, and more introversion. Parents of the craniofacial children noted more frequent negative social encounters for their children and more hyperactive behavior at home. Teachers reported more problematic classroom behavior. Examination of these results revealed craniofacial malformations to be associated with psychosocial limitations rather than marked deficits. These children tended to function less well than the comparison children, but with few exceptions, they were not functioning in a psychosocially deviant range. Explanations for the observed circumscribed impact of facial deformity include the use of denial as a coping mechanism, possible diminished significance of appearance for younger children, and the restricted environment experienced by most of the subjects. It can be predicted that time would render these protective influences ineffective, so that adolescent and young adult patients could be at far greater psychosocial risk. PMID:3969404

  13. Gastroesophageal reflux and congenital gastrointestinal malformations

    PubMed Central

    Marseglia, Lucia; Manti, Sara; D’Angelo, Gabriella; Gitto, Eloisa; Salpietro, Carmelo; Centorrino, Antonio; Scalfari, Gianfranco; Santoro, Giuseppe; Impellizzeri, Pietro; Romeo, Carmelo

    2015-01-01

    Although the outcome of newborns with surgical congenital diseases (e.g., diaphragmatic hernia; esophageal atresia; omphalocele; gastroschisis) has improved rapidly with recent advances in perinatal intensive care and surgery, infant survivors often require intensive treatment after birth, have prolonged hospitalizations, and, after discharge, may have long-term sequelae including gastro-intestinal comorbidities, above all, gastroesophageal reflux (GER). This condition involves the involuntary retrograde passage of gastric contents into the esophagus, with or without regurgitation or vomiting. It is a well-recognized condition, typical of infants, with an incidence of 85%, which usually resolves after physiological maturation of the lower esophageal sphincter and lengthening of the intra-abdominal esophagus, in the first few months after birth. Although the exact cause of abnormal esophageal function in congenital defects is not clearly understood, it has been hypothesized that common (increased intra-abdominal pressure after closure of the abdominal defect) and/or specific (e.g., motility disturbance of the upper gastrointestinal tract, damage of esophageal peristaltic pump) pathological mechanisms may play a role in the etiology of GER in patients with birth defects. Improvement of knowledge could positively impact the long-term prognosis of patients with surgical congenital diseases. The present manuscript provides a literature review focused on pathological and clinical characteristics of GER in patients who have undergone surgical treatment for congenital abdominal malformations. PMID:26229394

  14. Arteriovenous malformation of the vestibulocochlear nerve

    PubMed Central

    Tucker, Adam; Tsuji, Masao; Yamada, Yoshitaka; Hanabusa, Kenichiro; Ukita, Tohru; Miyake, Hiroji; Ohmura, Takehisa

    2015-01-01

    We describe a rare case of an arteriovenous malformation (AVM) embedded in the vestibulocochlear nerve presenting with subarachnoid hemorrhage (SAH) treated by microsurgical elimination of the main feeding artery and partial nidus volume reduction with no permanent deficits. This 70-year-old woman was incidentally diagnosed 4 years previously with two small unruptured tandem aneurysms (ANs) on the right anterior inferior cerebral artery feeding a small right cerebellopontine angle AVM. The patient was followed conservatively until she developed sudden headache, nausea and vomiting and presented to our outpatient clinic after several days. Magnetic resonance imaging demonstrated findings suggestive of early subacute SAH in the quadrigeminal cistern. A microsurgical flow reduction technique via clipping between the two ANs and partial electrocoagulation of the nidus buried within the eighth cranial nerve provided radiographical devascularization of the ANs with residual AVM shunt flow and no major deficits during the 2.5 year follow-up. This is only the second report of an auditory nerve AVM. In the event of recurrence, reoperation or application of alternative therapies may be considered. PMID:26244159

  15. Sports participation with Chiari I malformation.

    PubMed

    Strahle, Jennifer; Geh, Ndi; Selzer, Béla J; Bower, Regina; Himedan, Mai; Strahle, MaryKathryn; Wetjen, Nicholas M; Muraszko, Karin M; Garton, Hugh J L; Maher, Cormac O

    2016-04-01

    OBJECT There is currently no consensus on the safety of sports participation for patients with Chiari I malformation (CM-I). The authors' goal was to define the risk of sports participation for children with the imaging finding of CM-I. METHODS A prospective survey was administered to 503 CM-I patients at 2 sites over a 46-month period. Data were gathered on imaging characteristics, treatment, sports participation, and any sport-related injuries. Additionally, 81 patients completed at least 1 subsequent survey following their initial entry into the registry and were included in a prospective group, with a mean prospective follow-up period of 11 months. RESULTS Of the 503 CM-I patients, 328 participated in sports for a cumulative duration of 4641 seasons; 205 of these patients participated in contact sports. There were no serious or catastrophic neurological injuries. One patient had temporary extremity paresthesias that resolved within hours, and this was not definitely considered to be related to the CM-I. In the prospective cohort, there were no permanent neurological injuries. CONCLUSIONS No permanent or catastrophic neurological injuries were observed in CM-I patients participating in athletic activities. The authors believe that the risk of such injuries is low and that, in most cases, sports participation by children with CM-I is safe. PMID:26636249

  16. [Intracranial arteriovenous malformations in pregnant women].

    PubMed

    Perquin, D A; Kloet, A; Tans, J T; Witte, G N; Dörr, P J

    1999-03-01

    Three women, aged 27, 32 and 30 years, respectively, suffered from headache, nausea and neurological abnormalities and were found to have an intracranial arteriovenous malformation (AVM). One of them after diagnosis had two pregnancies, both ended by caesarean section with good results. Another woman was 32 weeks pregnant when the AVM manifested itself with a haemorrhage; she recovered well and was delivered by caesarean section. After the AVM proved radiologically to have been obliterated, she delivered after her subsequent pregnancy by the vaginal route with vacuum extraction. The third woman was 15 weeks pregnant when major abnormalities developed. There was a large intracerebral haematoma with break-through to the ventricular system; this patient died. Intracranial haemorrhage during pregnancy is rate. It can result in maternal and foetal morbidity and mortality. It appears that pregnancy does not increase the rate of first cerebral haemorrhage from an AVM. The management of AVM rupture during pregnancy should be based primarily on neurosurgical rather than on obstetric considerations. Close collaboration with a team of neurologists, neurosurgeons, obstetricians and anaesthesiologists is mandatory. PMID:10321255

  17. [Pyruvate dehydrogenase deficiency and cerebral malformations].

    PubMed

    Eirís, J; Alvarez-Moreno, A; Briones, P; Alonso-Alonso, C; Castro-Gago, M

    1996-10-01

    Pyruvate dehydrogenase (PDH) deficiency is a major cause of primary lactic acidosis and severe global developmental delay. A deficiency of PDH E1 alpha, a subunit of the PDH complex is a prominent cause of congenital lactic acidosis. The E1 alpha cDNA and corresponding genomic DNA have been located in the short arm of the X-chromosome (Xp22-1). A isolated 'cerebral' lactic acidosis with cerebral dysgenesis is a recognized pattern of presentation of PDH deficiency. Here, we report clinical features, magnetic resonance, and biochemical studies of two females aged 6 months (case 1) and 26 months (case 2). Both had severe development delay, minor dysmorphic features, microcephaly, severe hypoplasia of the corpus callosum, cerebral atrophy, ventricular dilatation and increase in serum lactate levels without systemic acidosis. Urinary organic acid profile was compatible with PDH deficiency. Increased CSF lactate and pyruvate levels and reduced total PDH and PDH E1 activities in muscle and fibroblasts were observed in case 1. Otherwise, decreased total PDH activity in muscle but not in fibroblasts was seen in case 2. The PDH E1á gene was sequenced in the case 1 and a deletion in exon 7 was demonstrated. Dysmorphism with severe cerebral malformations in female patients merits a metabolic evaluation, including determination of lactate and pyruvate levels in CSF. PMID:8983728

  18. Prevention of Eye Injuries

    PubMed Central

    Pashby, Tom

    1981-01-01

    In Canada 30,000 people are registered as blind; in one third of these, blindness might have been avoided. Prevention is the key to reducing the number of eye injuries and blind eyes. The role of the family physician in early identification of treatable conditions and in the education of patients is discussed, but responsibility for prevention belongs to all physicians. The success of prevention is seen in the great reduction in eye injuries in industry and sports since eye protectors have been commonly used. However, many dangers to the eyes are either not recognized or are not taken seriously enough. This paper discusses some of the common causes of serious eye injuries in the home, in sports and in industry. Imagesp464-aFig. 1Fig. 2Fig. 3Fig. 4 PMID:21289691

  19. Longitudinal chromatic aberration of the human infant eye

    PubMed Central

    Wang, Jingyun; Candy, T. Rowan; Teel, Danielle F. W.; Jacobs, Robert J.

    2008-01-01

    Although the longitudinal chromatic aberration (LCA) of the adult eye has been studied, there are no data collected from the human infant eye. A chromatic retinoscope was used to measure cyclopleged infant and adult refractions with four pseudomonochromatic sources (centered at 472, 538, 589, and 652 nm) and with polychromatic light. The LCA of the infant eyes between 472 and 652 nm was a factor of 1.7 greater than the LCA found in the adult group: infant mean=1.62 D, SD±0.14 D; adult mean=0.96 D, SD±0.17 D. The elevated level of LCA in infant eyes is consistent with the greater optical power of the immature eye and indicates similar chromatic dispersion in infant and adult eyes. The implications for visual performance, defocus detection, and measurement of refraction are discussed. PMID:18758552

  20. AUTISM WITH OPHTHALMOLOGIC MALFORMATIONS: THE PLOT THICKENS

    PubMed Central

    Miller, Marilyn T; Strömland, Kerstin; Ventura, Liana; Johansson, Maria; Bandim, Jose M; Gillberg, Christopher

    2004-01-01

    ABSTRACT Purpose To review the association of autism spectrum disorder (ASD) in individuals manifesting thalidomide embryopathy and Möbius sequence and compare them with three new studies in which ASD was also associated with ocular and systemic malformations: (1) a Swedish study of individuals with CHARGE association (Coloboma, Heart, choanal Atresia, developmental or growth Retardation, Genital anomaly, and Ear involvement); (2) a Swedish study of Goldenhar syndrome; and (3) Brazilian Möbius syndrome (sequence) study. Methods In the Swedish CHARGE study, 31 patients met the inclusion criteria (3+ or 4 of the common characteristics of the CHARGE syndrome). The same team of investigators also evaluated 20 Swedish patients with Goldenhar syndrome. In the Brazilian Möbius study, 28 children with a diagnosis of Möbius sequence were studied; some children had a history of exposure during their mother’s pregnancy to the abortifacient drug misoprostol in an unsuccessful abortion attempt Results In the CHARGE study, five patients had the more severe autism disorder and five had autistic-like condition. In the Goldenhar study, two had autism disorder and one had autistic-like condition. In the Brazilian Möbius study, the systemic findings of the misoprostol-exposed and misoprostol-unexposed patients were almost undistinguishable, and ASD was present in both groups (autism disorder in five and autistic-like condition in three). Conclusion Autism spectrum disorder has been reported in two conditions with known early pregnancy exposure to the teratogenic agents thalidomide and misoprostol. In the Brazilian Möbius study, autism also occurred in both the misoprostol-exposed and misoprostol-unexposed groups. Autism also was present in patients with both CHARGE association and Goldenhar syndrome. PMID:15747750

  1. Repeat radiosurgery for cerebral arteriovenous malformations.

    PubMed

    Awad, Ahmed J; Walcott, Brian P; Stapleton, Christopher J; Ding, Dale; Lee, Cheng-Chia; Loeffler, Jay S

    2015-06-01

    We perform a systematic review of repeat radiosurgery for cerebral arteriovenous malformations (AVM) with an emphasis on lesion obliteration rates and complications. Radiosurgery is an accepted treatment modality for AVM located in eloquent cortex or deep brain structures. For residual or persistent lesions, repeat radiosurgery can be considered if sufficient time has passed to allow for a full appreciation of treatment effects, usually at least 3years. A systematic review was performed in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. References for this review were identified by searches of MEDLINE, Web of Science and Google Scholar databases. A total of 14 studies comprising 733 patients met the review criteria and were included. For series that reported target dose at both first and repeat treatments, the weighted means were 19.42Gy and 19.06Gy, respectively. The mean and median obliteration rate for the repeat radiosurgery treatments were 61% (95% confidence interval 51.9-71.7%) and 61.5%, respectively. The median follow up following radiosurgery ranged from 19.5 to 80months. Time to complete obliteration after the repeat treatment ranged from 21 to 40.8months. The most common complications of repeat radiosurgery for AVM included hemorrhage (7.6%) and radiation-induced changes (7.4%). Repeat radiosurgery can be used to treat incompletely obliterated AVM with an obliteration rate of 61%. Complications are related to treatment effect latency (hemorrhage risk) as well as radiation-induced changes. Repeat radiosurgery can be performed at 3 years following the initial treatment, allowing for full realization of effects from the initial treatment prior to commencing therapy. PMID:25913746

  2. Variation in compound eye structure: effects of diet and family.

    PubMed

    Merry, Justin W; Kemp, Darrell J; Rutowski, Ronald L

    2011-07-01

    Studies of compound eyes have revealed that variation in eye structure can substantially affect visual performance. Here, we investigate the degree to which a stressful rearing environment, which decreases body size, affects the eye phenotype. Full siblings of the Orange Sulphur butterfly, Colias eurytheme, were collected from known parents and split within families among two diet treatments that varied in quality. In both sexes, individuals reared on the high-quality diet had larger eye height and anterior facet diameter, and therefore, by inference, superior vision. However, relative to their reduced body size, individuals reared on low-quality diet had proportionally larger eyes and facets than individuals reared on high-quality diet. We interpret this finding as evidence that butterflies encountering nutritional stress increased proportional investment in eye development to reduce loss of visual performance. We also found significant broad-sense genetic variation underlying eye structure in both males and females, and report novel heritability estimates for eye height and facet diameter. Surprisingly, there was greater genetic variation in eye height among males than among females, despite apparently stronger directional selection on male vision. We discuss the implications of these data for our understanding of eye development and evolution. PMID:21729063

  3. Combining EEG and eye tracking: identification, characterization, and correction of eye movement artifacts in electroencephalographic data.

    PubMed

    Plöchl, Michael; Ossandón, José P; König, Peter

    2012-01-01

    Eye movements introduce large artifacts to electroencephalographic recordings (EEG) and thus render data analysis difficult or even impossible. Trials contaminated by eye movement and blink artifacts have to be discarded, hence in standard EEG-paradigms subjects are required to fixate on the screen. To overcome this restriction, several correction methods including regression and blind source separation have been proposed. Yet, there is no automated standard procedure established. By simultaneously recording eye movements and 64-channel-EEG during a guided eye movement paradigm, we investigate and review the properties of eye movement artifacts, including corneo-retinal dipole changes, saccadic spike potentials and eyelid artifacts, and study their interrelations during different types of eye- and eyelid movements. In concordance with earlier studies our results confirm that these artifacts arise from different independent sources and that depending on electrode site, gaze direction, and choice of reference these sources contribute differently to the measured signal. We assess the respective implications for artifact correction methods and therefore compare the performance of two prominent approaches, namely linear regression and independent component analysis (ICA). We show and discuss that due to the independence of eye artifact sources, regression-based correction methods inevitably over- or under-correct individual artifact components, while ICA is in principle suited to address such mixtures of different types of artifacts. Finally, we propose an algorithm, which uses eye tracker information to objectively identify eye-artifact related ICA-components (ICs) in an automated manner. In the data presented here, the algorithm performed very similar to human experts when those were given both, the topographies of the ICs and their respective activations in a large amount of trials. Moreover it performed more reliable and almost twice as effective than human experts

  4. Drugs affecting the eye.

    PubMed

    Taylor, F

    1985-08-01

    This discussion reviews drugs that affect the eye, including antihyperglycemic agents; corticosteroids; antirheumatic drugs (quinolines, indomethacin, and allopurinol); psychiatric drugs (phenothiazine, thioridazine, and chlorpromazine); drugs used in cardiology (practolol, amiodarone, and digitalis gylcosides); drugs implicated in optic neuritis and atrophy, drugs with an anticholinergic action; oral contraceptives (OCs); and topical drugs and systemic effects. Refractive changes, either myopic or hypermetropic, can occur as a result of hyperglycemia, and variation in vision is sometimes a presenting symptom in diabetes mellitus. If it causes a change in the refraction, treatment of hyperglycemia almost always produces a temporary hypermetropia. A return to the original refractive state often takes weeks, sometimes months. There is some evidence that patients adequately treated with insulin improve more rapidly than those taking oral medication. Such patients always should be referred for opthalmological evaluation as other factors might be responsible, but it might not be possible to order the appropriate spectacle correction for some time. The most important ocular side effect of the systemic adiministration of corticosteroids is the formation of a posterior subcapsular cataract. Glaucoma also can result from corticosteroids, most often when they are applied topically. Corticosteroids have been implicated in the production of benign intracranial hypertension, which is paradoxical because they also are used in its treatment. The most important side effect of drugs such as chloroquine and hydroxychloroquine is an almost always irreversible maculopathy with resultant loss of central vision. Corneal and retinal changes similar to those caused by the quinolines have been reported with indomethacin, but there is some question about a cause and effect relationship. The National Registry of Drug Induced Ocular Side Effects in the US published 30 case histories of

  5. Videos from the National Eye Institute: Eye Diseases

    MedlinePlus

    ... this page please turn Javascript on. Feature: Vision Videos from the National Eye Institute: Eye Diseases Past ... the early detection of eye disease. Share these videos with friends, family and colleagues. www.nei.nih. ...

  6. Anorectal malformations caused by defects in sonic hedgehog signaling.

    PubMed

    Mo, R; Kim, J H; Zhang, J; Chiang, C; Hui, C C; Kim, P C

    2001-08-01

    Anorectal malformations are a common clinical problem affecting the development of the distal hindgut in infants. The spectrum of anorectal malformations ranges from the mildly stenotic anus to imperforate anus with a fistula between the urinary and intestinal tracts to the most severe form, persistent cloaca. The etiology, embryology, and pathogenesis of anorectal malformations are poorly understood and controversial. Sonic hedgehog (Shh) is an endoderm-derived signaling molecule that induces mesodermal gene expression in the chick hindgut. However, the role of Shh signaling in mammalian hindgut development is unknown. Here, we show that mutant mice with various defects in the Shh signaling pathway exhibit a spectrum of distal hindgut defects mimicking human anorectal malformations. Shh null-mutant mice display persistent cloaca. Mutant mice lacking Gli2 or Gli3, two zinc finger transcription factors involved in Shh signaling, respectively, exhibit imperforate anus with recto-urethral fistula and anal stenosis. Furthermore, persistent cloaca is also observed in Gli2(-/-);Gli3(+/-), Gli2(+/-);Gli3(-/-), and Gli2(-/-);Gli3(-/-) mice demonstrating a gene dose-dependent effect. Therefore, Shh signaling is essential for normal development of the distal hindgut in mice and mutations affecting Shh signaling produce a spectrum of anorectal malformations that may reveal new insights into their human disease equivalents. PMID:11485934

  7. Anorectal Malformations Caused by Defects in Sonic Hedgehog Signaling

    PubMed Central

    Mo, Rong; Kim, Jae Hong; Zhang, Jianrong; Chiang, Chin; Hui, Chi-chung; Kim, Peter C. W.

    2001-01-01

    Anorectal malformations are a common clinical problem affecting the development of the distal hindgut in infants. The spectrum of anorectal malformations ranges from the mildly stenotic anus to imperforate anus with a fistula between the urinary and intestinal tracts to the most severe form, persistent cloaca. The etiology, embryology, and pathogenesis of anorectal malformations are poorly understood and controversial. Sonic hedgehog (Shh) is an endoderm-derived signaling molecule that induces mesodermal gene expression in the chick hindgut. However, the role of Shh signaling in mammalian hindgut development is unknown. Here, we show that mutant mice with various defects in the Shh signaling pathway exhibit a spectrum of distal hindgut defects mimicking human anorectal malformations. Shh null-mutant mice display persistent cloaca. Mutant mice lacking Gli2 or Gli3, two zinc finger transcription factors involved in Shh signaling, respectively, exhibit imperforate anus with recto-urethral fistula and anal stenosis. Furthermore, persistent cloaca is also observed in Gli2−/−;Gli3+/−, Gli2+/−;Gli3−/−, and Gli2−/−;Gli3−/− mice demonstrating a gene dose-dependent effect. Therefore, Shh signaling is essential for normal development of the distal hindgut in mice and mutations affecting Shh signaling produce a spectrum of anorectal malformations that may reveal new insights into their human disease equivalents. PMID:11485934

  8. Defining anural malformations in the context of a developmental problem

    USGS Publications Warehouse

    Meteyer, C.U.; Cole, R.A.; Converse, K.A.; Docherty, D.E.; Wolcott, M.; Helgen, J.C.; Levey, R.; Eaton-Poole, L.; Burkhart, J.G.

    2000-01-01

    This paper summarizes terminology and general concepts involved in animal development for the purpose of providing background for the study and understanding of frog malformations. The results of our radiographic investigation of rear limb malformations in Rana pipiens provide evidence that frog malformations are the product of early developmental errors. Although bacteria, parasites and viruses were identified in these metamorphosed frogs, the relevant window to look for the teratogenic effect of these agents is in the early tadpole stage during limb development. As a result, our microbiological findings must be regarded as inconclusive relative to determining their contribution to malformations because we conducted our examinations on metamorphosed frogs not tadpoles. Future studies need to look at teratogenic agents (chemical, microbial, physical or mechanical) that are present in the embryo, tadpole, and their environments at the stages of development that are relevant for the malformation type. The impact of these teratogenic agents then needs to be assessed in appropriate animal models using studies that are designed to mimic field conditions. The results of these laboratory tests should then be analyzed in such a way that will allow comparison with the findings in the wild-caught tadpoles and frogs.

  9. Local Model of Arteriovenous Malformation of the Human Brain

    NASA Astrophysics Data System (ADS)

    Nadezhda Telegina, Ms; Aleksandr Chupakhin, Mr; Aleksandr Cherevko, Mr

    2013-02-01

    Vascular diseases of the human brain are one of the reasons of deaths and people's incapacitation not only in Russia, but also in the world. The danger of an arteriovenous malformation (AVM) is in premature rupture of pathological vessels of an AVM which may cause haemorrhage. Long-term prognosis without surgical treatment is unfavorable. The reduced impact method of AVM treatment is embolization of a malformation which often results in complete obliteration of an AVM. Pre-surgical mathematical modeling of an arteriovenous malformation can help surgeons with an optimal sequence of the operation. During investigations, the simple mathematical model of arteriovenous malformation is developed and calculated, and stationary and non-stationary processes of its embolization are considered. Various sequences of embolization of a malformation are also considered. Calculations were done with approximate steady flow on the basis of balanced equations derived from conservation laws. Depending on pressure difference, a fistula-type AVM should be embolized at first, and then small racemose AVMs are embolized. Obtained results are in good correspondence with neurosurgical AVM practice.

  10. High Temporal and Spatial Resolution Imaging of Peripheral Vascular Malformations

    PubMed Central

    Mostardi, Petrice M.; Young, Phillip M.; McKusick, Michael A.; Riederer, Stephen J.

    2013-01-01

    Purpose To assess the performance of a recently developed 3D time-resolved CE-MRA technique, Cartesian Acquisition with Projection-Reconstruction-like sampling (CAPR), for accurate characterization and treatment planning of vascular malformations of the periphery. Materials and Methods Twelve patient studies were performed (eight female, four male; average age, 33 years). The protocol consisted of three-dimensional (3D) time-resolved CE-MRA followed by a single late phase T1-weighted acquisition. Vascular malformations were imaged in the forearm, hand, thigh, and foot. Imaging evaluation was performed for accurate characterization of lesion type, identification of feeding and draining vessels, involvement with surrounding tissue, overall quality for diagnosis and treatment planning, and correlation with conventional angiography. Results Time-resolved CE-MRA allowed for characterization of malformation flow and type. Feeding and draining vessels were identified in all cases. Overall quality for diagnosis and treatment planning was 3.58/4.0, and correlation with conventional angiography was scored as 3.89/4.0. Conclusion The CAPR time series has been shown to portray the temporal dynamics and structure of vascular malformations as well as the normal vasculature with high quality. CAPR time-resolved imaging is able to accurately characterize high and low flow lesions, allowing for pretreatment lesion assessment and treatment planning. Delayed imaging is important to capture complete filling of very slow flow vascular malformations. PMID:22674646

  11. Sporadic Multifocal Venous Malformations of the Head and Neck

    PubMed Central

    Amato, Michael V.; Patel, Neha A.; Hu, Shirley; Pantelides, Harry

    2015-01-01

    Objective. To report a case of unusually widespread sporadic venous malformations of the head and neck associated with normal D-dimer levels and, due to the protean clinical manifestations and increased risk of coagulopathy of these lesions, to review their diagnosis and clinical management. Case Report. A 25-year-old man presented with a one-year history of intermittent right-sided neck swelling and tongue swelling. Physical exam revealed additional lesions present throughout the head and neck. There was no family history suggestive of heritable vascular malformations. Radiographic imaging demonstrated 15 lesions located in various tissue layers consistent with venous malformations. A coagulation screen showed a normal prothrombin time, activated partial thromboplastin time, international normalized ratio, D-dimer level, and fibrinogen level. It was determined that the patient was not at increased risk for intraoperative coagulopathy and preoperative heparin administration would not be necessary. The patient's buccal and tongue lesions were subsequently excised with no complications. The patient also underwent sclerotherapy evaluation for his neck mass. Conclusion. This case describes a unique presentation of sporadic multifocal venous malformations. It also emphasizes the importance of prompt diagnosis and workup when multiple venous malformations are present to prevent morbidity during surgical excision secondary to intravascular coagulopathy. PMID:26483982

  12. Photorefraction of the Eye

    ERIC Educational Resources Information Center

    Colicchia, Giuseppe; Wiesner, Hartmut; Zollman, Dean

    2015-01-01

    Photorefraction is a method to easily estimate the refractive state of the eye. The principle of photorefraction involves projecting light into the eye during flash photography and then examining the paths of light that emerge from the pupil after scattering on the back portion of the interior of the eyeball (fundus). We will explain the optical…

  13. Eye tissues study

    NASA Astrophysics Data System (ADS)

    Tuchin, Valery V.; Bashkatov, Alexey N.; Maksimova, Irina L.; Sinichkin, Yurii P.; Simonenko, Georgy V.; Genina, Elina A.; Lakodina, Nina A.

    2001-08-01

    Theoretical and in vitro and in vivo experimental study of spectral and polarization characteristics of the human and rabbit eye tissues are presented. The possibility of control of optical properties of eye cornea, lens and sclera is discussed and realized experimentally for glucose solution as the refractive index matching factor.

  14. Preventing Eye Injuries

    MedlinePlus

    ... Eye Injuries Reviewed by: Brenda Pagan-Duran MD Mar. 01, 2016 Protecting your eyes from injury is one of the most basic things you can do to keep your vision healthy throughout your life. You may be somewhat aware of the possible ...

  15. Lasik eye surgery - slideshow

    MedlinePlus

    ... this page: //medlineplus.gov/ency/presentations/100206.htm Lasik eye surgery - series To use the sharing features ... A.M. Editorial team. Related MedlinePlus Health Topics Laser Eye Surgery A.D.A.M., Inc. is accredited by ...

  16. Diabetes and eye disease

    MedlinePlus

    ... the back of the inner eye. It changes light and images that enter the eye into nerve signals, which are sent to the brain. Diabetic retinopathy is a main cause of decreased vision or blindness in Americans 20 to 74 years old. People with type 1 or type 2 ...

  17. Fluorescein eye stain

    MedlinePlus

    ... eye. The health care provider then shines a blue light at your eye. Any problems on the surface of the cornea will be stained by the dye and appear green under the blue light. The provider can determine the location and ...

  18. Understanding pink eye

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Pink eye (PE) is a physiological tuber disorder that can result in serious processing complications and storage losses. The earliest external symptoms consist of an ephemeral pinkish discoloration around tuber eyes, predominately at the bud end of the tuber. These pinkish areas can then develop into...

  19. An Eye for Learning.

    ERIC Educational Resources Information Center

    Ostwald, Thomas

    1995-01-01

    Presents a hands-on activity as an excellent starting point for investigations related to the eye. Involves making a simple model of the vertebrate eye to illustrate the formation of an upside-down image on the retina by the lens. Links to investigations in numerous science disciplines including astronomy, genetics, biology, earth science, and…

  20. Smoking and Eye Health

    MedlinePlus

    ... Eye Health Apr. 14, 2014 Avoiding smoking and second hand smoke — or quitting if you are a smoker — are ... influence your eyes’ health. And tobacco smoke, including second-hand smoke, is an irritant that worsens dry eye , a ...

  1. [The development of eye symptoms in dysostosis craniofacialis Crouzon--a contribution to pathogenesis (author's transl)].

    PubMed

    Rochels, R; Schmitt, E J

    1981-01-01

    The eye symptoms in dysostosis craniofacialis Crouzon can be divided into obligate and facultative signs; the latter are nystagmus, megalocornea, coloboma of the iris, corectopia, ectopia of the lens and cataract. There is no causal relationship between these symptoms and the dysostosis craniofacialis. The common eye findings in this disease use proptosis, divergent strabism, hypertelorism with dystopia canthi lateralis as well as in about 80% an atrophy of the optic nerve. It is considered until now that the premature synostosis of cranial sutures is the leading and only pathogenetical factor in this disease. This theory can no longer be sustained because of its inability to explain the above mentionned eye findings. We want to stress on a malformation of the prosencephalic head organisator leading to a dyschondroplasia that mainly affects the base of the skull. This frontal dysplasia causes a characteristic displacement of the building materials and thereby produces the common eye findings in this disease. PMID:7193765

  2. Posterior reversible encephalopathy syndrome in a patient with a Chiari I malformation

    PubMed Central

    Hansberry, David R.; Agarwal, Nitin; Tomei, Krystal L.; Goldstein, Ira M.

    2013-01-01

    Background: The authors describe a unique case of a patient who developed posterior reversible encephalopathy syndrome (PRES) following postoperative treatment of a Chiari I malformation. Case Decsription: A 25-year-old female presented with complaints of left upper and lower extremity paresthesias and gait disturbances. A magnetic resonance imaging (MRI) of the brain and cervical spine showed a Chiari I malformation with tonsillar descent beyond the level of the C1 lamina. She underwent a suboccipital craniectomy and C1 laminectomy with cerebellar tonsillar cauterization and duraplasty. Postoperatively, an MRI showed bilateral acute infarcts of the cerebellar vermis. She was initially treated for cerebellar ischemia with hypertensive therapy with a subsequent decline in her neurologic status and generalized tonic–clonic seizure. Further workup showed evidence of PRES. After weaning pressors, the patient had a significant progressive improvement in her mental status. Conclusion: Although the mechanism of PRES remains controversial given its diverse clinical presentation, several theories implicate hypertension and steroid use as causative agents. PMID:24232171

  3. A somatic MAP3K3 mutation is associated with verrucous venous malformation.

    PubMed

    Couto, Javier A; Vivero, Matthew P; Kozakewich, Harry P W; Taghinia, Amir H; Mulliken, John B; Warman, Matthew L; Greene, Arin K

    2015-03-01

    Verrucous venous malformation (VVM), also called "verrucous hemangioma," is a non-hereditary, congenital, vascular anomaly comprised of aberrant clusters of malformed dermal venule-like channels underlying hyperkeratotic skin. We tested the hypothesis that VVM lesions arise as a consequence of a somatic mutation. We performed whole-exome sequencing (WES) on VVM tissue from six unrelated individuals and looked for somatic mutations affecting the same gene in specimens from multiple persons. We observed mosaicism for a missense mutation (NM_002401.3, c.1323C>G; NP_002392, p.Iso441Met) in mitogen-activated protein kinase kinase kinase 3 (MAP3K3) in three of six individuals. We confirmed the presence of this mutation via droplet digital PCR (ddPCR) in the three subjects and found the mutation in three additional specimens from another four participants. Mutant allele frequencies ranged from 6% to 19% in affected tissue. We did not observe this mutant allele in unaffected tissue or in affected tissue from individuals with other types of vascular anomalies. Studies using global and conditional Map3k3 knockout mice have previously implicated MAP3K3 in vascular development. MAP3K3 dysfunction probably causes VVM in humans. PMID:25728774

  4. Eye burning - itching and discharge

    MedlinePlus

    ... allergies or hay fever Infections, bacterial or viral ( conjunctivitis or pink eye) Chemical irritants (such as chlorine ... to help with allergies. Pink eye or viral conjunctivitis causes a red or bloodshot eye and excessive ...

  5. Spinal arteriovenous malformations: Is surgery indicated?

    PubMed Central

    Singh, Bikramjit; Behari, Sanjay; Jaiswal, Awadhesh K.; Sahu, Rabi Narayan; Mehrotra, Anant; Mohan, B. Madan; Phadke, Rajendra V.

    2016-01-01

    Purpose: To identify clinico-radiological distinguishing features in various types of spinal arteriovenous malformations (AVM) with an aim to define the role of surgical intervention. Materials and Methods: Hero's modified Di Chiro classification differentiated four types of spinal AVMs on digital subtraction angiogram (DSA) in 74 patients: I. Dural arteriovenous fistulae (n = 35, 47.3%); II. Glomus/intramedullary (n = 13, 17.6%); III. Juvenile/metameric (n = 4, 5.4%); and, IV. Ventral perimedullary fistula (n = 21, 28.4%). A patient with extradural AVM remained unclassified. Demographic profiles, DSA features and reason for surgical referral were recorded. Statistical comparison of discrete variables like gender, spinal cord level, presentation and outcome was made using Chi-square test; and, continuous variables like age, feeder number, duration of symptoms and number of staged embolizations by one way analysis of variance with Boneferoni post hoc comparison. Embolization alone (n = 39, 52.7%), surgery alone (n = 16, 21.6%), and combined approach (n = 4, 5.4%) were the treatments offered (15 were treated elsewhere). Results: Type I-AVM occurred in significantly older population than other types (P = 0.01). Mean duration of symptoms was 13.18 ± 12.8 months. Thoracic cord involvement predominated in type-I and III AVMs (P = 0.01). Number of feeding arteries were 1 in 59.7%; 2 in 29.0%; and, multiple in 11.3% patients, respectively. Staged embolization procedures in type-III AVM were significant (P < 0.01). Surgical referral was required due to: Vessel tortuosity/insufficient parent vessel caliber (n = 7); residual AVM (n = 4); low flow AVM (n = 3); and, multiple feeders (n = 2). Check DSA (n = 34) revealed complete AVM obliteration in 26 and minor residual lesion in eight patients. Neurological status improved in 26 and stabilized in 25 patients. Conclusions: Differentiating between Type I-IV AVMs has a significant bearing on their management. Surgical

  6. An Unusual Cause of Dysphagia: A Large Expectorated Arteriovenous Malformation

    PubMed Central

    Griffin, Aaron S.; Gunasena, Rivindi; Schaefer, Nathan R.; Kennedy, Edmund

    2015-01-01

    Background Vascular malformations are generally detected in childhood or adolescence with first presentations in adulthood being rare. Case Report We report the case of a 52-year-old female with threatened compromise of her airway after expectorating a massive arteriovenous malformation anchored at the supraglottis. The only preceding symptom was dysphagia. The lesion was resected, the patient had a quick recovery, and she has shown no evidence of recurrence. Conclusion Although uncommon, vascular malformations of the supraglottis or hypopharynx should be considered in the differential diagnosis of a patient presenting with dysphagia because of the potential to cause disastrous airway compromise. Although a lesion presenting acutely mandates a definitive airway plan, when clinically possible, computed tomography scan and indirect laryngoscopy can provide useful information for the airway and operative teams. PMID:26130989

  7. Pediatric intraoral high-flow arteriovenous malformation: a diagnostic challenge.

    PubMed

    Petel, Roy; Ashkenazi, Malka

    2014-01-01

    Arteriovenous malformations (AVMs) are rarely reported in the dental pediatric literature. They may develop adjacent to primary molars and can be life-threatening due to their potential for massive bleeding. The most common symptom associated with documented cases of AVMs is spontaneous gingival bleeding. Other clinical signs include pain, erythematous gingiva, resorption and mobility of teeth, soft tissue discoloration, facial swelling, and asymmetry. Radiographically, AVMs are osteolytic lesions. The purpose of this report was to describe the challenge of diagnosis of a high-flow arteriovenous malformation located in the primary maxillary molar region, which was misdiagnosed as a dentoalveolar abscess adjacent to previously treated primary molars. A decision to extract a tooth with gingival swelling and associated spontaneous bleeding should be made after the differential diagnosis of a vascular malformation has been ruled out. PMID:25303512

  8. Arteriovenous malformation of the filum terminale: an exceptional case.

    PubMed

    Troude, Lucas; Melot, Anthony; Brunel, Hervé; Roche, Pierre-Hugues

    2016-06-01

    Arteriovenous malformations (AVMs) of the spine display a variety of different locations, angioarchitectures, and clinical presentations. The authors describe an exceptional case of a filum terminale AVM that is not described in any classification and discuss the origin and management of this malformation. A 59-year-old woman was admitted in June 2012 for cauda equina syndrome. Magnetic resonance imaging and spinal angiography revealed an AVM of the filum terminale, located below the conus medullaris, fed by the anterior spinal artery. After an unsuccessful attempt to reach the nidus with a microcatheter, the AVM was resected. At 20 months after surgery, the patient was fully independent and radiological images confirmed the exclusion of the malformation. AVMs that originate from the filum terminale are exceptional. According to updated classifications, AVMs of the filum terminale should be categorized as a separate entity. PMID:26495953

  9. Electroencephalography in congenital malformations of the central nervous system.

    PubMed

    Campos, P; Cruz, G; Lizarraga, R; Bancalari, E; Guillen, D; Castañeda, C

    1994-12-01

    We studied clinical and EEG features of 36 cases with congenital malformations of the CNS. Patients were followed at the outpatient clinic of Hospital Cayetano Heredia and of Hogar Clinica San Juan de Dios in Lima-Peru, from January 1984 to June 1992. Eighty percent of the patients had convulsive syndromes and mental retardation. The most frequent malformation was agenesis of corpus callosum, and it was not possible to find a "typical" EEG pattern. The second were porencephalic cysts, with a good clinical-EEG correlation. There were two typical cases of schizencephaly, one of hemimegalencephaly with good prognosis, and one of holoprosencephaly. The results are compared to those obtained for a series we previously reported. Data discussed take into account reports on the subject registered in the literature. It is concluded that EEG is an useful method to evaluate possible CNS malformations in developing countries. PMID:7611945

  10. Fetal Magnetic Resonance Imaging of Malformations Associated with Heterotaxy

    PubMed Central

    Shah, Parinda H; Anderson, Robert H

    2015-01-01

    Magnetic resonance imaging (MRI) is increasingly used as an investigation during fetal life, particularly for assessment of intracranial masses, congenital diaphragmatic hernia, myelomeningocele, and abdominal masses. As the number of scans increases, so is the variety of congenital malformations being recognized. It is axiomatic that interpretation of the findings is enhanced when attention is paid to the likely findings in the setting of known syndromes, this information then dictating the need for additional acquisition of images. One such syndrome is so-called “visceral heterotaxy”, in which there is typically an isomeric, rather than a lateralized, arrangement of the thoracic and abdominal organs. Typically associated with complex congenital cardiac malformations, heterotaxy can also involve the central nervous system, and produce pulmonary, gastrointestinal, immunologic, and genitourinary malformations. In this review, we discuss how these findings can be demonstrated using fetal MRI.  PMID:26180693

  11. Revision Stapedectomy in a Female Patient with Inner Ear Malformation

    PubMed Central

    Patel, Tirth R.; Moberly, Aaron C.

    2016-01-01

    Objectives. We describe an unusual case of surgical management of congenital mixed hearing loss in a female patient with inner ear malformation. This report outlines the role of temporal bone imaging and previous surgical history in evaluating a patient's risk of perilymph gusher during stapes surgery. Methods. A 68-year-old female patient with a history of profound bilateral mixed hearing loss due to ossicular and cochlear malformation presented to our otology clinic. She had undergone multiple unsuccessful previous ear surgeries. Computed tomography revealed bilateral inner ear malformations. She elected to proceed with revision stapedectomy. Results. The patient received modest benefit to hearing, and no operative complications occurred. Conclusions. Although stapedectomy has been shown to improve hearing in patients with stapes fixation, there is risk of perilymph gusher in patients with inner ear abnormalities. Evaluation and counseling of the risk of gusher during stapes surgery should be done on a case-by-case basis. PMID:27144044

  12. Venous malformations: Sclerotherapy with a mixture of ethanol and lipiodol

    SciTech Connect

    Suh, Jin-Suck; Shin, Kyoo-Ho; Na, Jae-Bum; Won, Jong-Yun; Hahn, Soo-Bong

    1997-07-15

    Purpose. To evaluate the usefulness of a mixture of absolute ethanol and lipiodol in the management of venous malformations. Methods. Percutaneous sclerotherapy was performed with a mixture of absolute ethanol and lipiodol (9:1) in 17 patients with venous malformations, once in 12 patients, twice in 5. The therapeutic efficacy was evaluated by pain reduction. Conventional radiographs (n=15) and posttreatment magnetic resonance imaging (n=5) were obtained for the follow-up evaluation. Results. Sclerotherapy was successful in all but two patients. The therapeutic effect was excellent in two patients, good in seven, fair in five, and poor in one. Radiopacity of lipiodol was beneficial for monitoring the procedure rather than for follow-up evaluations. Areas with low signal-intensity strands were increased on T2-weighted images obtained after the sclerotherapy. Conclusion. Sclerotherapy with a mixture of ethanol and lipiodol is effective in treating venous malformations.

  13. Genomic Variants and Variations in Malformations of Cortical Development

    PubMed Central

    Jamuar, Saumya S.; Walsh, Christopher A.

    2015-01-01

    Malformations of cortical development (MCD) are a common cause of neurodevelopmental delay and epilepsy and are caused by disruptions in the normal development of the cerebral cortex. Advances in genetic tools have expanded our understanding of the genetics of these malformations over the past few years, with a number of new causative genes identified in patients with MCD. In addition, there has been a vast expansion in the phenotypic characterization of the known genes, with a wide range as well as severity of malformations being reported. There is increasing evidence of role of de novo mutations, including those occurring post fertilization, in MCD. These “somatic” mutations may not be detectable by traditional methods of genetic testing performed on blood DNA. Identification of the genetic etiology can help in guiding families in future pregnancies. Recent work has highlighted how elucidation of key molecular pathway can also allow for targeted therapeutic interventions. PMID:26022163

  14. Models of cortical malformation--Chemical and physical.

    PubMed

    Luhmann, Heiko J

    2016-02-15

    Pharmaco-resistant epilepsies, and also some neuropsychiatric disorders, are often associated with malformations in hippocampal and neocortical structures. The mechanisms leading to these cortical malformations causing an imbalance between the excitatory and inhibitory system are largely unknown. Animal models using chemical or physical manipulations reproduce different human pathologies by interfering with cell generation and neuronal migration. The model of in utero injection of methylazoxymethanol (MAM) acetate mimics periventricular nodular heterotopia. The freeze lesion model reproduces (poly)microgyria, focal heterotopia and schizencephaly. The in utero irradiation model causes microgyria and heterotopia. Intraperitoneal injections of carmustine 1-3-bis-chloroethyl-nitrosurea (BCNU) to pregnant rats produces laminar disorganization, heterotopias and cytomegalic neurons. The ibotenic acid model induces focal cortical malformations, which resemble human microgyria and ulegyria. Cortical dysplasia can be also observed following prenatal exposure to ethanol, cocaine or antiepileptic drugs. All these models of cortical malformations are characterized by a pronounced hyperexcitability, few of them also produce spontaneous epileptic seizures. This dysfunction results from an impairment in GABAergic inhibition and/or an increase in glutamatergic synaptic transmission. The cortical region initiating or contributing to this hyperexcitability may not necessarily correspond to the site of the focal malformation. In some models wide-spread molecular and functional changes can be observed in remote regions of the brain, where they cause pathophysiological activities. This paper gives an overview on different animal models of cortical malformations, which are mostly used in rodents and which mimic the pathology and to some extent the pathophysiology of neuronal migration disorders associated with epilepsy in humans. PMID:25850077

  15. Prenatal diagnosis of congenital renal and urinary tract malformations.

    PubMed

    Hindryckx, A; De Catte, L

    2011-01-01

    Congenital abnormalities of the kidneys and the urinary tract are the most common sonographically identified -malformations in the prenatal period. Obstructive uropathies account for the majority of cases. The aim of prenatal diagnosis and management is to detect those anomalies having impact on the prognosis of the affected child and -requiring early postnatal evaluation or treatment to minimize adverse outcomes. In this paper, we summarize the embryology of kidneys and urinary tract, the normal sonographic appearance through-out pregnancy and the prenatal diagnosis of their congenital malformations. PMID:24753862

  16. Split-hand/feet malformation: A rare syndrome

    PubMed Central

    Gane, Bahubali D.; Natarajan, P.

    2016-01-01

    Split-hand/split-foot malformation (SHFM) is mainly inherited as an autosomal dominant trait with incomplete penetrance and characterized by malformation of the limb involving the central rays of the autopod. It presents with a deep median cleft of the hand and/or foot, aplasia/hypoplasia of the phalanges, metacarpals, and metatarsals. Pathogenic mechanism is a failure to maintain signaling from the median apical ectodermal ridge. Without this signaling, cells of the underlying progress zone stop proliferation and differentiation which in turn results in defects of the central rays. We describe a case of SHFM in 10-year-old boy. PMID:27453866

  17. [Urinary tract abnormalities with anorrectal malformations (author's transl)].

    PubMed

    Nogués, A; Ceres, M L; Olagüe, R; Andrés, V; Lanuza, A

    1978-01-01

    Thirty five patients with anorrectal malformations are reviewed. These are divided in high and low anomalies according to some simple clinical data, better than the drawing of reference lines to determinate the height of puborrectalis muscle. Malformations were associated in 13 cases with urinary tract estructural anomalies and in four cases with isolated vesico-ureteral reflux. Diagnosis of urinary tract infection was made in 14 patients, 12 of them with recto-urinary fistula. A point is made about the complete and early exploration of all these patients to prevent irreparable renal damage that could be developed. PMID:655503

  18. Cerebral arteriovenous malformation presenting as visual deterioration in a child.

    PubMed

    Kaye, L C; Kaye, S B; Lagnado, R; Boothroyd, A; Morton, C; May, P

    2000-10-01

    A rare case of visual loss as the presenting feature of a central arteriovenous malformation involving the vein of Galen is reported. A 5-year-old girl with a history of deteriorating vision for the past 6 months was examined. Ocular examination showed a left hemianopia, left optic atrophy, and dilated vessels of the right optic disc. MRI revealed a massive deep-seated central arteriovenous malformation involving the vein of Galen. The mechanism of visual loss is likely to be a combination of ischaemic optic atrophy associated with a steal phenomenon and direct compression of the right optic radiation. PMID:11085301

  19. Multiple Complex Congenital Malformations in a Rabbit Kit (Oryctolagus cuniculi)

    PubMed Central

    Booth, Jennifer L; Peng, Xuwen; Baccon, Jennifer; Cooper, Timothy K

    2013-01-01

    Congenital malformations may occur during early embryogenesis in cases of genetic abnormalities or various environmental factors. Affected subjects most often have only one or 2 abnormalities; subjects rarely have several unrelated congenital defects. Here we describe a case of a stillborn New Zealand white rabbit with multiple complex congenital malformations, including synophthalmia, holoprosencephaly, gastroschisis, and a supernumerary hindlimb, among other anomalies. There was no historical exposure to teratogens or other known environmental causes. Although not confirmed, this case was most likely a rare spontaneous genetic event. PMID:24209970

  20. Chiari malformations: An important cause of pediatric aspiration.

    PubMed

    Fuller, Jennifer C; Sinha, Sumi; Caruso, Paul A; Hersh, Cheryl J; Butler, William E; Krishnamoorthy, Kalpathy S; Hartnick, Christopher J

    2016-09-01

    Chronic aspiration poses a major health risk to the pediatric population. We describe four cases in which work up for chronic aspiration with a brain MRI revealed a Chiari I malformation, a poorly described etiology of pediatric aspiration. All patients had at least one non-specific neurologic symptom but had swallow studies more characteristic of an anatomic than a neurologic etiology. Patients were referred to neurosurgery and underwent posterior fossa decompression with symptom improvement. A high index of suspicion for Chiari malformation should be maintained when the standard work up for aspiration is non-diagnostic, particularly when non-specific neurologic symptoms are present. PMID:27497399

  1. Split-hand/feet malformation: A rare syndrome.

    PubMed

    Gane, Bahubali D; Natarajan, P

    2016-01-01

    Split-hand/split-foot malformation (SHFM) is mainly inherited as an autosomal dominant trait with incomplete penetrance and characterized by malformation of the limb involving the central rays of the autopod. It presents with a deep median cleft of the hand and/or foot, aplasia/hypoplasia of the phalanges, metacarpals, and metatarsals. Pathogenic mechanism is a failure to maintain signaling from the median apical ectodermal ridge. Without this signaling, cells of the underlying progress zone stop proliferation and differentiation which in turn results in defects of the central rays. We describe a case of SHFM in 10-year-old boy. PMID:27453866

  2. Polymelous layer chick displaying additional malformations of the hind gut: case report and in-depth review of related literature.

    PubMed

    Hirschberg, R M; Saleh, M; Kaiser, S; Lierz, M; Hafez, H M; Bragulla, H H

    2012-08-01

    A case report of a male 6-day-old male layer chick featuring incomplete polymelia of the hind limbs and hindgut malformations is presented. The chick was submitted to computed tomography (CT) examination and subsequent anatomical dissection. Apart from the two supernumerary hind limbs, the anatomical dissection revealed additional hindgut alterations: three uniform-sized caeca flanked the ileum, and the rectum branched into paired cloacae. The supernumerary hind limbs were localized caudal to the normal hind limbs in an inverted position and were attached to pelvic girdle elements and to a curtate pygostyle. They featured a prominent unpaired femur besides paired tibiotarsi, tarsometatarsi and species-specific phalanges of the toes. Additionally, two separate bones attached to the caudoventral aspect of the regular hip bones were developed. The supernumerary limbs were in part mobile and received nerve and vascular supply. Digital 3D-reconstruction based on the CT datasets revealed the osseous components of the malformed body parts. The possible morphogenesis including an in-depth literature review and the clinical implications of the reported malformations are discussed. PMID:22250842

  3. ASSESSMENT OF ENVIRONMENTAL STRESSORS POTENTIALLY RESPONSIBLE FOR MALFORMATIONS IN NORTH AMERICAN ANURAN AMPHIBIANS

    EPA Science Inventory

    A number of species of anuran amphibians from different regions across North America have recently exhibited an increased occurrence of, predominantly, hind limb malformations. Research concerning factors potentially responsible for these malformations has focused extensively on ...

  4. Ethical Considerations of Whole-Eye Transplantation.

    PubMed

    Sivak, Wesley N; Davidson, Edward H; Komatsu, Chiaki; Li, Yang; Miller, Maxine R; Schuman, Joel S; Solari, Mario G; Magill, Gerard; Washington, Kia M

    2016-01-01

    Whole eye transplantation (WET) remains experimental. Long presumed impossible, recent scientific advances regarding WET suggest that it may become a clinical reality. However, the ethical implications of WET as an experimental therapeutic strategy remain largely unexplored. This article evaluates the ethical considerations surrounding WET as an emerging experimental treatment for vision loss. A thorough review of published literature pertaining to WET was performed; ethical issues were identified during review of the articles. PMID:27045309

  5. [Treatment of eye allergies].

    PubMed

    Kari, Osmo; Saari, K Matti

    2012-01-01

    Seasonal atopic conjunctivitis is treated with antihistamines, cromoglycate and short courses of corticosteroids, in severe cases with subcutaneous or sublingual immunotherapy. Chronic conjunctivitis requires year-round treatment with mast cell stabilizers, antihistamines or topical corticosteroids. Long-term treatment of atopic blepharoconjunctivitis consists of tacrolimus or pimecrolimus cream. For atopic keratoconjunctivitis corticosteroid and, if necessary, cyclosporine eye drops are needed. First-line therapy of vernal conjunctivitis involves mast cell stabilizers and, if necessary, corticosteroid eye drops. Treatment of non-allergic eosinophilic conjunctivitis involves mast cell stabilizers, corticosteroid and, if necessary, cyclosporine eye drops. PMID:22428383

  6. Eye-Safe Lidar

    NASA Technical Reports Server (NTRS)

    Byer, Robert L.

    1989-01-01

    Laser infrared radar (lidar) undergoing development harmless to human eyes, consists almost entirely of solid-state components, and offers high range resolution. Operates at wavelength of about 2 micrometers. If radiation from such device strikes eye, almost completely absorbed by cornea without causing damage, even if aimed directly at eye. Continuous-wave light from laser oscillator amplified and modulated for transmission from telescope. Small portion of output of oscillator fed to single-mode fiber coupler, where mixed with return pulses. Intended for remote Doppler measurements of winds and differential-absorption measurements of concentrations of gases in atmosphere.

  7. Sclerotherapy using 1% sodium tetradecyl sulfate to treat a vascular malformation: a report of two cases

    PubMed Central

    2015-01-01

    Vascular malformations are the most common congenital and neonatal vascular anomalies in the head and neck region. The demand for simple and esthetic vascular malformation treatments have increased more recently. In this study, two patients that were diagnosed with venous malformations were treated with sodium tetradecyl sulfate as a sclerosing agent. Recurrence was not found one year after the surgery. This article gives a brief case report of sclerotherapy as an effective approach to treat vascular malformations in the oral cavity. PMID:26734559

  8. Autologous serum eye drops for dry eye

    PubMed Central

    Pan, Qing; Angelina, Adla; Zambrano, Andrea; Marrone, Michael; Stark, Walter J; Heflin, Thomas; Tang, Li; Akpek, Esen K

    2014-01-01

    Background Theoretically, autologous serum eye drops (AS) have a potential advantage over traditional therapies based on the assumption that AS serve not only as a lacrimal substitute to provide lubrication, but also contain other biochemical components mimicking natural tears more closely. The application of AS in dry eye treatment has gained popularity as a second-line therapy in the treatment of dry eye. Published studies on the subject indicate that autologous serum could be an effective treatment for dry eye. Objectives To evaluate the efficacy and safety of AS compared to artificial tears for treating dry eye. Search methods We searched CENTRAL (which contains the Cochrane Eyes and Vision Group Trials Register) (The Cochrane Library 2013, Issue 3), Ovid MEDLINE, Ovid MEDLINE In-Process and Other Non-Indexed Citations, Ovid MEDLINE Daily, Ovid OLD MEDLINE, (January 1950 to April 2013), EMBASE (January 1980 to April 2013), Latin American and Caribbean Literature on Health Sciences (LILACS) (January 1982 to April 2013), the meta Register of Controlled Trials (mRCT) (www.controlled-trials.com), ClinicalTrials.gov (www.clinicaltrials.gov) and the WHO International Clinical Trials Registry Platform (ICTRP) (www.who.int/ictrp/search/en). We also searched the Science Citation Index Expanded database (September 2013) and reference lists of included studies. We did not use any date or language restrictions in the electronic searches for trials. We last searched the electronic databases on 15 April 2013. Selection criteria We included randomized controlled trials (RCTs) in which AS was compared to artificial tears in the treatment of dry eye in adults. Data collection and analysis Two review authors independently screened all titles and abstracts and assessed full-text articles of potentially eligible trials. Two review authors extracted data and assessed the methodological quality and characteristics of the included trials.We contacted investigators for missing data

  9. ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations.

    PubMed

    Gianfrancesco, F; Esposito, T; Penco, S; Maglione, V; Liquori, C L; Patrosso, M C; Zuffardi, O; Ciccodicola, A; Marchuk, D A; Squitieri, F

    2008-08-13

    The past few years have seen rapid advances in our understanding of the genetics and molecular biology of cerebral cavernous malformations (CCM) with the identification of the CCM1, CCM2, and CCM3 genes. Recently, we have recruited a patient with an X/3 balanced translocation that exhibits CCM. By fluorescent in situ hybridization analysis, sequence analysis tools and database mining procedures, we refined the critical region to an interval of 200-kb and identified the interrupted ZPLD1 gene. We detected that the mRNA expression level of ZPLD1 gene is consistently decreased 2.5-fold versus control (P=0.0006) with allelic loss of gene expression suggesting that this protein may be part of the complex signaling pathway implicated in CCM formation. PMID:18632209

  10. Notch-1 Signalling Is Activated in Brain Arteriovenous Malformations in Humans

    ERIC Educational Resources Information Center

    ZhuGe, Qichuan; Zhong, Ming; Zheng, WeiMing; Yang, Guo-Yuan; Mao, XiaoOu; Xie, Lin; Chen, Gourong; Chen, Yongmei; Lawton, Michael T.; Young, William L.; Greenberg, David A.; Jin, Kunlin

    2009-01-01

    A role for the Notch signalling pathway in the formation of arteriovenous malformations during development has been suggested. However, whether Notch signalling is involved in brain arteriovenous malformations in humans remains unclear. Here, we performed immunohistochemistry on surgically resected brain arteriovenous malformations and found that,…

  11. Diabetic Eye Disease

    MedlinePlus

    ... Health Education Program Diabetic Eye Disease Education Program Glaucoma Education Program Low Vision Education Program Spanish-language ... FAQ Watch out for your vision! Glossary Resources Glaucoma Glaucoma Home How Much Do You Know? What ...

  12. Dry eye syndrome

    MedlinePlus

    ... of dry eyes include: Dry environment or workplace (wind, air conditioning) Sun exposure Smoking or second-hand ... NOT smoke and avoid second-hand smoke, direct wind, and air conditioning. Use a humidifier, especially in ...

  13. Amblyopia: Lazy Eye Treatment

    MedlinePlus

    ... Choosing Safe Toys this Holiday Dec 02, 2015 Digital Glasses For Lazy Eye Nov 19, 2015 Follow The Academy Professionals: Education Guidelines News Multimedia Public & Patients: Contact Us About ...

  14. Amblyopia: Lazy Eye Symptoms

    MedlinePlus

    ... Choosing Safe Toys this Holiday Dec 02, 2015 Digital Glasses For Lazy Eye Nov 19, 2015 Follow The Academy Professionals: Education Guidelines News Multimedia Public & Patients: Contact Us About ...

  15. Amblyopia: Lazy Eye Diagnosis

    MedlinePlus

    ... Choosing Safe Toys this Holiday Dec 02, 2015 Digital Glasses For Lazy Eye Nov 19, 2015 Follow The Academy Professionals: Education Guidelines News Multimedia Public & Patients: Contact Us About ...

  16. What Is Dry Eye?

    MedlinePlus

    ... Plastic Surgery Center Laser Surgery Education Center Redmond Ethics Center Global Ophthalmology Guide Academy Publications EyeNet Ophthalmology Information for: International Ophthalmologists Media Medical Students Patients and Public Technicians and Nurses ...

  17. Down Syndrome: Eye Problems

    MedlinePlus

    American Association for Pediatric Ophthalmology and Strabismus Home About AAPOS Patient Info Resources Allied Health News & Events Meetings J AAPOS American Association for Pediatric Ophthalmology and Strabismus Eye Terms ...

  18. Fungal Eye Infections

    MedlinePlus

    ... Zoonotic Infectious Disease Division of Foodborne, Waterborne, and Environmental Diseases Mycotic Diseases Branch Fungal Eye Infections Recommend on ... Zoonotic Infectious Disease Division of Foodborne, Waterborne, and Environmental Diseases Mycotic Diseases Branch File Formats Help: How do ...

  19. Dry eye syndrome

    MedlinePlus

    ... particles that have gotten in. A healthy tear film on the eye is necessary for good vision. ... exam Diagnostic staining of the cornea and tear film Measurement of tear film break-up time (TBUT) ...

  20. Using Eye Makeup

    MedlinePlus

    ... in a moving vehicle. Do not separate your mascara-clumped lashes with sharp items. If you tend ... all eye makeup at night before sleeping, especially mascara that can stick to the lashes. Brush a ...

  1. Anatomy of the Eye

    MedlinePlus

    ... Conditions Frequently Asked Questions Español Condiciones Chinese Conditions Anatomy of the Eye En Español Read in Chinese External (Extraocular) Anatomy Extraocular Muscles: There are six muscles that are ...

  2. Melanoma of the eye

    MedlinePlus

    ... modified July 9, 2015. www.cancer.gov/types/eye/hp/intraocular-melanoma-treatment-pdq . Accessed October 7, 2015. Read ... by: Yi-Bin Chen, MD, Leukemia/Bone Marrow Transplant Program, Massachusetts General Hospital, Boston, MA. Also reviewed ...

  3. Eye Injuries in Sports

    MedlinePlus

    ... these injuries can be prevented. Overall, basketball and baseball cause the most eye injuries, followed by water ... involve body contact. Some high-risk sports are baseball, basketball, hockey, football, lacrosse, tennis and other racquet ...

  4. [Straight in the eyes].

    PubMed

    Diop, E; Beylot, V; Berta, C; Dugardin, C; Aigle, L

    2015-01-01

    This case report about a young French soldier hit in the eye by a spitting cobra in the Central African Republic prompts us to review the potential toxicity of this venom to the eyes and the management of this injury. The initial phase is simple to implement, but is often performed badly or not at all because unknown. It is a condition, however, for optimal recovery of the cornea. PMID:26067984

  5. Diencephalic-Mesencephalic Junction Dysplasia: A Novel Recessive Brain Malformation

    ERIC Educational Resources Information Center

    Zaki, Maha S.; Saleem, Sahar N.; Dobyns, William B.; Barkovich, A. James; Bartsch, Hauke; Dale, Anders M.; Ashtari, Manzar; Akizu, Naiara; Gleeson, Joseph G.; Grijalvo-Perez, Ana Maria

    2012-01-01

    We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic-mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic-mesencephalic junction with a characteristic "butterfly"-like contour of the midbrain on…

  6. Neurodevelopmental Outcomes in Children with Cerebellar Malformations: A Systematic Review

    ERIC Educational Resources Information Center

    Bolduc, Marie-Eve; Limperopoulos, Catherine

    2009-01-01

    Cerebellar malformations are increasingly diagnosed in the fetal period. Consequently, their consideration requires stressful and often critical decisions from both clinicians and families. This has resulted in an emergent need to understand better the impact of these early life lesions on child development. We performed a comprehensive literature…

  7. Corpus callosum arteriovenous malformation with persistent trigeminal artery.

    PubMed

    Mohanty, Chandan B; Devi, B Indira; Somanna, Sampath; Bhat, Dhananjaya I; Dawn, Rose

    2011-12-01

    A 13-year-old boy presented with an intracerebral haematoma secondary to a large corpus callosal arteriovenous malformation (AVM) with an associated persistent trigeminal artery, and was treated with Gamma-Knife Radiosurgery for the AVM. This report discusses the embryological basis, radiological features and various classifications of this rare vascular anomaly. PMID:21501055

  8. [A case of malformation in Pachycheles serratus (Decapoda: Porcellanidae)].

    PubMed

    Lira, C; Hernández, G; Bolaños, J A

    2003-06-01

    An adult male of Pachycheles serratus with a malformation on the right cheliped was found during a collection of anomuran crabs in coastal waters of the peninsula de Macanao, Margarita island, Venezuela. The specimen was found at La Carmela beach (11 degrees 04'N-64 degrees 20'W), and featured a bifurcated fixed finger on the right cheliped. PMID:15264565

  9. Embryonic Expression of Cyclooxygenase-2 Causes Malformations in Axial Skeleton*

    PubMed Central

    Shim, Minsub; Foley, Julie; Anna, Colleen; Mishina, Yuji; Eling, Thomas

    2010-01-01

    Cyclooxygenases (COXs) have important functions in various physiological and pathological processes. COX-2 expression is highly induced by a variety of stimuli and is observed during certain periods of embryonic development. In this report, the direct effect of COX-2 expression on embryonic development is examined in a novel COX-2 transgenic mouse model that ubiquitously expresses human COX-2 from the early stages of embryonic development. COX-2 transgenic fetuses exhibit severe skeletal malformations and die shortly after birth. Skeletal malformations are localized along the entire vertebral column and rib cage and are linked to defective formation of cartilage anlagen. The cartilage anlagen of axial skeleton fail to properly develop in transgenic embryos because of impaired precartilaginous sclerotomal condensation, which results from the reduction of cell number in the sclerotome. Despite the ubiquitous expression of COX-2, the number of apoptotic cells is highly increased in the sclerotome of transgenic embryos but not in other tissues, suggesting that it is a tissue-specific response. Therefore, the loss of sclerotomal cells due to an increased apoptosis is probably responsible for axial skeletal malformations in transgenic fetuses. In addition, the sclerotomal accumulation of p53 protein is observed in transgenic embryos, suggesting that COX-2 may induce apoptosis via the up-regulation of p53. Our results demonstrate that the aberrant COX-2 signaling during embryonic development is teratogenic and suggest a possible association of COX-2 with fetal malformations of unknown etiology. PMID:20236942

  10. Failed transarterial embolization of subserosal uterine arteriovenous malformation

    PubMed Central

    Seo, Kyung Jin; Kim, Jin; Sohn, In Sook; Kwon, Han Sung; Park, Sang Woo

    2013-01-01

    Uterine arteriovenous malformation (AVM) is rare but potentially life-threatening from excessive vaginal bleeding. All uterine AVMs reported to date have been found in the endometrial or myometrial layers. Here we present a patient with a subserosal type AVM on the fundus of uterus, which spontaneously ruptured. PMID:24328024

  11. [Congenital malformations of the external and middle ear].

    PubMed

    Wang, Zhaoyan; Yang, Jun; Wu, Hao

    2013-07-01

    Congenital malformations of the external and middle ear is the common reason of pediatric hearing impairment and cosmic problem. The treatment composes of auricular plastic surgery and auditory reconstruction surgery. The use of BAHA, vibrant sound-bridge and tissue engineering materials can significantly improve the treatment outcomes. PMID:24073571

  12. Hypospadias and anorectal malformations mediated by Eph/ephrin signaling

    PubMed Central

    Yucel, Selcuk; Dravis, Christopher; Garcia, Nilda; Henkemeyer, Mark; Baker, Linda A.

    2007-01-01

    Purpose Despite extensive research, the molecular basis of hypospadias and anorectal malformations is poorly understood, likely due to a multifactorial basis. The incidence of hypospadias is increasing, thus making research in this area warranted and timely. This review presents recent molecular work broadening our understanding of these disorders. Materials and Methods A brief review of our recent work and the literature on the role of Eph/ephrin signaling in hypospadias and anorectal malformations is presented. Results Genetically engineered mice mutant for ephrin-B2 or EphB2;EphB3 manifest a variety of genitourinary and anorectal malformations. Approximately 40% of adult male heterozygous mice demonstrate perineal hypospadias. Although homozygous mice die soon after birth, 100% of homozygous males demonstrate high imperforate anus with urethral anomalies and 100% of homozygous females demonstrate persistent cloaca. Male mice compound homozygous for EphB2ki/ki;EphB3Δ/Δ/ also demonstrate hypospadias. Conclusions These mouse models provide compelling evidence of the role of B-class Eph/ephrin signaling in genitourinary/anorectal development and add to our mechanistic and molecular understanding of normal and abnormal embryonic development. As research on the B-class Ephs and ephrins continues, they will likely be shown to be molecular contributors to the multifactorial basis of hypospadias and anorectal malformations in humans as well. PMID:18431460

  13. Gallbladder malformation with gastric wall-like architecture.

    PubMed

    Santonja, C; Rollán, V

    1996-09-01

    A 3-year-old girl was found to have a distended gallbladder, which pathologically consisted almost entirely of a gastric-type wall, featuring muscularis mucosae and a well-developed bilayered muscularis propria. This appears to be a unique, not previously recognized, malformation of the gallbladder. PMID:8887106

  14. Ventral Decompression in Chiari Malformation, Basilar Invagination, and Related Disorders.

    PubMed

    Ridder, Thomas; Anderson, Richard C E; Hankinson, Todd C

    2015-10-01

    Ventral brainstem compression is an uncommon clinical diagnosis seen by pediatric neurosurgeons and associated with Chiari malformation, type I. Presenting clinical symptoms often include headaches, lower cranial neuropathies, myelopathy, central sleep apnea, ataxia, and nystagmus. When ventral decompression is required, both open and endoscopic transoral/transnasal approaches are highly effective. PMID:26408067

  15. Stereotactic microresection of small cerebral vascular malformations (SCVM).

    PubMed

    Lerch, K D; Schaefer, D; Palleske, H

    1994-01-01

    Between 1988-1993 we performed CT-stereotactic guided microsurgical resection as a one-session-procedure in 46 patients bearing small (< 30 mm) cerebral vascular malformations (SCVM). The location of the SCVM was deep subcortical in 38 patients, temporal medio- basal in 3 and brainstem in 5. The surgical technique intended to minimise invasiveness by reducing the operative approach to a size less than the diameter of the lesion concerned. The mean diameter of our SCVM's was 20 mm ranging from 10 to 30 mm. Histologically we found 23 arteriovenous malformations, 22 cavernous malformations and 1 capillary telangiectasia (capillary malformation). Clinical symptomatology consisted mainly of seizures, (progressive) neurological deficit and (minute) acute intracerebral bleeding. The SCVMs could be demonstrated by contrast-enhanced CT as well as by MRI. 15 of the AVM's revealed as angiographically occult. Complete microsurgical resection of the SCVM was accomplished in all cases with a surgical morbidity of 6.5% and no operative mortality. In 14 patients, most of them with initial acute intracerebral haemorrhage, the pronounced focal neurological deficit improved. During the follow-up period (1/2-5 years) no rebleeding occurred. As far as epileptic seizures were concerned 13 patients became seizure-free without anticonvulsants and 11 patients seizure-free with anticonvulsant, in the remaining 4 patients seizures were reduced in frequency. PMID:7725939

  16. Surgical and Technical Modalities for Hearing Restoration in Ear Malformations.

    PubMed

    Dazert, Stefan; Thomas, Jan Peter; Volkenstein, Stefan

    2015-12-01

    Malformations of the external and middle ear often go along with an aesthetic and functional handicap. Independent of additional aesthetic procedures, a successful functional hearing restoration leads to a tremendous gain in quality of life for affected patients. The introduction of implantable hearing systems (bone conduction and middle ear devices) offers new therapeutic options in this field. We focus on functional rehabilitation of patients with malformations, either by surgical reconstruction or the use of different implantable hearing devices, depending on the disease itself and the severity of malformation as well as hearing impairment. Patients with an open ear canal and minor malformations are good candidates for surgical hearing restoration of middle ear structures with passive titanium or autologous implants. In cases with complete fibrous or bony atresia of the ear canal, the most promising functional outcome and gain in quality of life can be expected with an active middle ear implant or a bone conduction device combined with a surgical aesthetic rehabilitation in a single or multi-step procedure. Although the surgical procedure for bone conduction devices is straightforward and safe, more sophisticated operations for active middle ear implants (e.g., Vibrant Soundbridge, MED-EL, Innsbruck, Austria) provide an improved speech discrimination in noise and the ability of sound localization compared with bone conduction devices where the stimulation reaches both cochleae. PMID:26667632

  17. Diagnosis and Nonsurgical Management of Uterine Arteriovenous Malformation

    SciTech Connect

    Rangarajan, R. D.; Moloney, J. C.; Anderson, H. J.

    2007-11-15

    Uterine arteriovenous malformation (AVM) is an uncommon problem and traditional treatment by hysterectomy excludes the possibility of future pregnancy. Developments in interventional techniques make transcatheter embolization of the feeding vessel(s) a therapeutic alternative, potentially preserving the patient's fertility. We present a case of successful endovascular treatment of uterine AVM.

  18. Eye Protection in Educational Institutions.

    ERIC Educational Resources Information Center

    New Jersey State Dept. of Education, Trenton. Div. of Vocational Education.

    Intended to help reduce the number of school eye injuries in New Jersey, this document begins with a brief review of existing legislation regarding eye protection in educational institutions and a list of elements essential in an eye safety program. Second, eye protection equipment is examined in terms of: the advantages of safety spectacles over…

  19. Eye Safety. Mississippi Industrial Arts.

    ERIC Educational Resources Information Center

    Mississippi State Dept. of Education, Jackson. Div. of Vocational and Technical Education.

    This manual is designed to help industrial arts teachers eliminate student eye injuries within industrial arts programs. Presented first is Mississippi eye safety law. Following a discussion of eye protection equipment, illustrations of eye protection devices are provided. Guidelines are set forth for selecting shade numbers for welding filters.…

  20. Brain Vascular Malformation Consortium: Overview, Progress and Future Directions

    PubMed Central

    Akers, Amy L.; Ball, Karen L.; Clancy, Marianne; Comi, Anne M.; Faughnan, Marie E.; Gopal-Srivastava, Rashmi; Jacobs, Thomas P.; Kim, Helen; Krischer, Jeffrey; Marchuk, Douglas A.; McCulloch, Charles E.; Morrison, Leslie; Moses, Marsha; Moy, Claudia S.; Pawlikowska, Ludmilla; Young, William L.

    2013-01-01

    Brain vascular malformations are resource-intensive to manage effectively, are associated with serious neurological morbidity, lack specific medical therapies, and have no validated biomarkers for disease severity and progression. Investigators have tended to work in “research silos” with suboptimal cross-communication. We present here a paradigm for interdisciplinary collaboration to facilitate rare disease research. The Brain Vascular Malformation Consortium (BVMC) is a multidisciplinary, inter-institutional group of investigators, one of 17 consortia in the Office of Rare Disease Research Rare Disease Clinical Research Network (RDCRN). The diseases under study are: familial Cerebral Cavernous Malformations type 1, common Hispanic mutation (CCM1-CHM); Sturge-Weber Syndrome (SWS); and brain arteriovenous malformation in hereditary hemorrhagic telangiectasia (HHT). Each project is developing biomarkers for disease progression and severity, and has established scalable, relational databases for observational and longitudinal studies that are stored centrally by the RDCRN Data Management and Coordinating Center. Patient Support Organizations (PSOs) are a key RDCRN component in the recruitment and support of participants. The BVMC PSOs include Angioma Alliance, Sturge Weber Foundation, and HHT Foundation International. Our networks of clinical centers of excellence in SWS and HHT, as well as our PSOs, have enhanced BVMC patient recruitment. The BVMC provides unique and valuable resources to the clinical neurovascular community, and recently reported findings are reviewed. Future planned studies will apply successful approaches and insights across the three projects to leverage the combined resources of the BVMC and RDCRN in advancing new biomarkers and treatment strategies for patients with vascular malformations. PMID:25221778

  1. Brain Vascular Malformation Consortium: Overview, Progress and Future Directions.

    PubMed

    Akers, Amy L; Ball, Karen L; Clancy, Marianne; Comi, Anne M; Faughnan, Marie E; Gopal-Srivastava, Rashmi; Jacobs, Thomas P; Kim, Helen; Krischer, Jeffrey; Marchuk, Douglas A; McCulloch, Charles E; Morrison, Leslie; Moses, Marsha; Moy, Claudia S; Pawlikowska, Ludmilla; Young, William L

    2013-04-01

    Brain vascular malformations are resource-intensive to manage effectively, are associated with serious neurological morbidity, lack specific medical therapies, and have no validated biomarkers for disease severity and progression. Investigators have tended to work in "research silos" with suboptimal cross-communication. We present here a paradigm for interdisciplinary collaboration to facilitate rare disease research. The Brain Vascular Malformation Consortium (BVMC) is a multidisciplinary, inter-institutional group of investigators, one of 17 consortia in the Office of Rare Disease Research Rare Disease Clinical Research Network (RDCRN). The diseases under study are: familial Cerebral Cavernous Malformations type 1, common Hispanic mutation (CCM1-CHM); Sturge-Weber Syndrome (SWS); and brain arteriovenous malformation in hereditary hemorrhagic telangiectasia (HHT). Each project is developing biomarkers for disease progression and severity, and has established scalable, relational databases for observational and longitudinal studies that are stored centrally by the RDCRN Data Management and Coordinating Center. Patient Support Organizations (PSOs) are a key RDCRN component in the recruitment and support of participants. The BVMC PSOs include Angioma Alliance, Sturge Weber Foundation, and HHT Foundation International. Our networks of clinical centers of excellence in SWS and HHT, as well as our PSOs, have enhanced BVMC patient recruitment. The BVMC provides unique and valuable resources to the clinical neurovascular community, and recently reported findings are reviewed. Future planned studies will apply successful approaches and insights across the three projects to leverage the combined resources of the BVMC and RDCRN in advancing new biomarkers and treatment strategies for patients with vascular malformations. PMID:25221778

  2. Correlation between ultrasound diagnosis and autopsy findings of fetal malformations

    PubMed Central

    Vimercati, Antonella; Grasso, Silvana; Abruzzese, Marinella; Chincoli, Annarosa; de Gennaro, Alessandra; Miccolis, Angela; Serio, Gabriella; Selvaggi, Luigi; Fascilla, Fabiana Divina

    2012-01-01

    Summary Objective to compare ultrasound (US) and autopsy findings of fetal malformations in second trimester terminations of pregnancy to evaluate the degree of agreement between US and fetal autopsy. Methods in this study, all second trimester termination of pregnancy between 2003–2010 were considered. US and autopsy findings were compared and all cases were classified into five categories according to the degree of agreement between US and pathology (A1: full agreement between US and autopsy; A2: autopsy confirmed all US findings but revealed additional anomalies ‘rarely detectable’ prenatally; B: autopsy demonstrated all US findings but revealed additional anomalies ‘detectable’ prenatally; C: US findings were only partially demonstrated at fetal autopsy; D: total disagreement between US and autopsy). Results 144 cases were selected. In 49% of cases there was total agreement between US and autopsy diagnosis (A1). In 22% of cases additional information were about anomalies ‘not detectable’ by US (A2). In 12% of cases autopsy provided additional information about anomalies not observed but ‘detectable’ by US (B). In 13% of cases some anomalies revealed at US, such as valve insufficiencies, pericardial and pleural effusions, were not verified at autopsy (C). Total lack of agreement was noted only in 4% of cases (D). Main areas of disagreement concerned cardiovascular, CNS and complex malformations. The degree of agreement was higher if malformations were diagnosed in a tertiary center. Conclusions this study shows an overall high degree of agreement between definitive US and autopsy findings in second trimester termination of pregnancy for fetal malformations. Autopsy reveals to be the best tool to diagnose malformations and often showed other abnormalities of clinical importance not detected by US, but sometimes also US could provide additional information about functional anomalies because US is a dynamic examination. PMID:22905306

  3. Is a Swine Model of Arteriovenous Malformation Suitable for Human Extracranial Arteriovenous Malformation? A Preliminary Study

    SciTech Connect

    Lv, Ming-ming; Fan, Xin-dong; Su, Li-xin

    2013-10-15

    Objective: A chronic arteriovenous malformation (AVM) model using the swine retia mirabilia (RMB) was developed and compared with the human extracranial AVM (EAVM) both in hemodynamics and pathology, to see if this brain AVM model can be used as an EAVM model. Methods: We created an arteriovenous fistula between the common carotid artery and the external jugular vein in eight animals by using end-to-end anastomosis. All animals were sacrificed 1 month after surgery, and the bilateral retia were obtained at autopsy and performed hematoxylin and eosin staining and immunohistochemistry. Pre- and postsurgical hemodynamic evaluations also were conducted. Then, the blood flow and histological changes of the animal model were compared with human EAVM. Results: The angiography after operation showed that the blood flow, like human EAVM, flowed from the feeding artery, via the nidus, drained to the draining vein. Microscopic examination showed dilated lumina and disrupted internal elastic lamina in both RMB of model and nidus of human EAVM, but the thickness of vessel wall had significant difference. Immunohistochemical reactivity for smooth muscle actin, angiopoietin 1, and angiopoietin 2 were similar in chronic model nidus microvessels and human EAVM, whereas vascular endothelial growth factor was significant difference between human EAVM and RMB of model. Conclusions: The AVM model described here is similar to human EAVM in hemodynamics and immunohistochemical features, but there are still some differences in anatomy and pathogenetic mechanism. Further study is needed to evaluate the applicability and efficacy of this model.

  4. cis-Regulatory Mutations Are a Genetic Cause of Human Limb Malformations

    PubMed Central

    VanderMeer, Julia E.; Ahituv, Nadav

    2011-01-01

    The underlying mutations that cause human limb malformations are often difficult to determine, particularly for limb malformations that occur as isolated traits. Evidence from a variety of studies shows that cis-regulatory mutations, specifically in enhancers, can lead to some of these isolated limb malformations. Here, we provide a review of human limb malformations that have been shown to be caused by enhancer mutations and propose that cis-regulatory mutations will continue to be identified as the cause of additional human malformations as our understanding of regulatory sequences improves. PMID:21509892

  5. The injured eye

    PubMed Central

    Scott, Robert

    2011-01-01

    Eye injuries come at a high cost to society and are avoidable. Ocular blast injuries can be primary, from the blast wave itself; secondary, from fragments carried by the blast wind; tertiary; due to structural collapse or being thrown against a fixed object; or quaternary, from burns and indirect injuries. Ballistic eye protection significantly reduces the incidence of eye injuries and should be encouraged from an early stage in Military training. Management of an injured eye requires meticulous history taking, evaluation of vision that measures the acuity and if there is a relative pupillary defect as well as careful inspection of the eyes, under anaesthetic if necessary. A lateral canthotomy with cantholysis should be performed immediately if there is a sight-threatening retrobulbar haemorrhage. Systemic antibiotics should be prescribed if there is a suspected penetrating or perforating injury. A ruptured globe should be protected by an eye shield. Primary repair of ruptured globes should be performed in a timely fashion. Secondary procedures will often be required at a later date to achieve sight preservation. A poor initial visual acuity is not a guarantee of a poor final result. The final result can be predicted after approximately 3–4 weeks. Future research in eye injuries attempts to reduce scarring and neuronal damage as well as to promote photoreceptor rescue, using post-transcriptional inhibition of cell death pathways and vaccination to promote neural recovery. Where the sight has been lost sensory substitution of a picture from a spectacle mounted video camera to the touch receptors of the tongue can be used to achieve appreciation of the outside world. PMID:21149360

  6. Unexpected phenotypes of malformations induced in Xenopus tropicalis embryos by combined exposure to triphenyltin and 9-cis-retinoic acid.

    PubMed

    Zhu, Jingmin; Yu, Lin; Wu, Lijiao; Hu, Lingling; Shi, Huahong

    2014-03-01

    Xenopus tropicalis embryos were exposed for 48 hr to the mixtures of 5 μg Sn/L triphenyltin (TPT), which is a well-known endocrine disruptor, and 0.25-5 μg/L 9-cis retinoic acid (9c-RA), which is the natural ligand of retinoid X receptor. The phenotypes induced by combined exposure were more variable than those resulting from single exposure to either TPT or 9c-RA. The prominent phenotypes included underdeveloped head structures, abnormal eyes, narrow fins, enlarged proctodaeum, etc. Especially, combined exposure induced unexpected notochord malformations, which ranged from small swellings of the surface of the tails to the extension and extrusion of notochord out of the posterior tails. Compared with the 5 μg Sn/L TPT-treated group, the index of fin deficiency was not affected, and the index of axis deficiency was significantly increased with increasing RA concentrations in the mixtures. Our results suggest that combined exposure to TPT and 9c-RA induced not only more variable phenotypes of malformations than exposure to single compound but also some new and unexpected phenotypes. PMID:25079278

  7. Eye lens dose in interventional cardiology.

    PubMed

    Principi, S; Delgado Soler, C; Ginjaume, M; Beltran Vilagrasa, M; Rovira Escutia, J J; Duch, M A

    2015-07-01

    The ICRP has recently recommended reducing the occupational exposure dose limit for the lens of the eye to 20 mSv y(-1), averaged over a period of 5 y, with no year exceeding 50 mSv, instead of the current 150 mSv y(-1). This reduction will have important implications for interventional cardiology and radiology (IC/IR) personnel. In this work, lens dose received by a staff working in IC is studied in order to determine whether eye lens dose monitoring or/and additional radiological protection measures are required. Eye lens dose exposure was monitored in 10 physicians and 6 nurses. The major IC procedures performed were coronary angiography and percutaneous transluminal coronary angioplasty. The personnel were provided with two thermoluminescent dosemeters (TLDs): one calibrated in terms of Hp(3) located close to the left ear of the operator and a whole-body dosemeter calibrated in terms of Hp(10) and Hp(0.07) positioned on the lead apron. The estimated annual eye lens dose for physicians ranged between 8 and 60 mSv, for a workload of 200 procedures y(-1). Lower doses were collected for nurses, with estimated annual Hp(3) between 2 and 4 mSv y(-1). It was observed that for nurses the Hp(0.07) measurement on the lead apron is a good estimate of eye lens dose. This is not the case for physicians, where the influence of both the position and use of protective devices such as the ceiling shield is very important and produces large differences among doses both at the eyes and on the thorax. For physicians, a good correlation between Hp(3) and dose area product is shown. PMID:25809107

  8. COMPU-EYE: a high resolution computational compound eye.

    PubMed

    Lee, Woong-Bi; Jang, Hwanchol; Park, Sangjun; Song, Young Min; Lee, Heung-No

    2016-02-01

    In nature, the compound eyes of arthropods have evolved towards a wide field of view (FOV), infinite depth of field and fast motion detection. However, compound eyes have inferior resolution when compared with the camera-type eyes of vertebrates, owing to inherent structural constraints such as the optical performance and the number of ommatidia. For resolution improvements, in this paper, we propose COMPUtational compound EYE (COMPU-EYE), a new design that increases acceptance angles and uses a modern digital signal processing (DSP) technique. We demonstrate that the proposed COMPU-EYE provides at least a four-fold improvement in resolution. PMID:26906778

  9. Artificial neural superposition eye.

    PubMed

    Brückner, Andreas; Duparré, Jacques; Dannberg, Peter; Bräuer, Andreas; Tünnermann, Andreas

    2007-09-17

    We propose an ultra-thin imaging system which is based on the neural superposition compound eye of insects. Multiple light sensitive pixels in the footprint of each lenslet of this multi-channel configuration enable the parallel imaging of the individual object points. Together with the digital superposition of related signals this multiple sampling enables advanced functionalities for artificial compound eyes. Using this technique, color imaging and a circumvention for the trade-off between resolution and sensitivity of ultra-compact camera devices have been demonstrated in this article. The optical design and layout of such a system is discussed in detail. Experimental results are shown which indicate the attractiveness of microoptical artificial compound eyes for applications in the field of machine vision, surveillance or automotive imaging. PMID:19547555

  10. Photorefraction of the Eye

    NASA Astrophysics Data System (ADS)

    Colicchia, Giuseppe; Wiesner, Hartmut; Zollman, Dean

    2015-02-01

    Photorefraction is a method to easily estimate the refractive state of the eye. The principle of photorefraction involves projecting light into the eye during flash photography and then examining the paths of light that emerge from the pupil after scattering on the back portion of the interior of the eyeball (fundus). We will explain the optical principles underlying the method for eccentric photorefraction and describe how students can perform it using current digital cameras. Our purpose is not to diagnose refractive errors reliably, but to use devices popular among young people that, in combination with an important ophthalmic context, may be successful in improving students' interest for learning optical concepts.

  11. Use of intracranial and ocular thermography before and after arteriovenous malformation excision

    NASA Astrophysics Data System (ADS)

    Hwang, Peter Y. K.; Lewis, Philip M.; Maller, Jerome J.

    2014-11-01

    Excision of arteriovenous malformations (AVMs) is known to carry a risk of postoperative hemorrhage, postulated to be the result of normal perfusion pressure breakthrough. It is also possible that AVMs may cause a steal effect, reducing perfusion in nearby vessels. There is currently no simple method of visualizing the presence or absence of steal effect intraoperatively. We hypothesized that the infrared thermographic (heat sensitive) imaging of perilesional brain may be useful for detecting reduced perfusion due to steal. Moreover, we hypothesized that if steal effect was present, it could impact on ocular perfusion and thereby temperature. Our objective was, therefore, to investigate whether perilesional cortical and ocular temperature (OT) may be a marker of steal effect. We intraoperatively acquired conventional and thermal images of the surgical field and eyes bilaterally, pre- and post-excisions of a large left hemisphere AVM. We found OT asymmetry preoperatively, which was absent after the AVM was excised. Intraoperative thermal images showed an increase of perilesional temperature, although this could be confounded by generalized changes in cortical perfusion due to anesthetics or surgery.

  12. Glaucoma: Eye-to-Eye with Dr. Rachel Bishop

    MedlinePlus

    ... of this page please turn JavaScript on. Feature: Glaucoma Eye-to-Eye with Dr. Rachel Bishop Past ... nerves are pale and cupped—signs of advanced glaucoma. Yet the patient wasn't aware of any ...

  13. Eye evolution: two eyes can be better than one.

    PubMed

    Foster, Kenneth W

    2009-03-10

    The development of our eyes is owed in part to ancestral structures which functioned in phototaxis. With the origin of bilateral annelid larva, two eyes co-evolved with neurons to improve phototaxis performance. PMID:19278637

  14. Behavioral effects of congenital ventromedial prefrontal cortex malformation

    PubMed Central

    2011-01-01

    Background A detailed behavioral profile associated with focal congenital malformation of the ventromedial prefrontal cortex (vmPFC) has not been reported previously. Here we describe a 14 year-old boy, B.W., with neurological and psychiatric sequelae stemming from focal cortical malformation of the left vmPFC. Case Presentation B.W.'s behavior has been characterized through extensive review Patience of clinical and personal records along with behavioral and neuropsychological testing. A central feature of the behavioral profile is severe antisocial behavior. He is aggressive, manipulative, and callous; features consistent with psychopathy. Other problems include: egocentricity, impulsivity, hyperactivity, lack of empathy, lack of respect for authority, impaired moral judgment, an inability to plan ahead, and poor frustration tolerance. Conclusions The vmPFC has a profound contribution to the development of human prosocial behavior. B.W. demonstrates how a congenital lesion to this cortical region severely disrupts this process. PMID:22136635

  15. Congenital pulmonary airway malformation: A report of two cases

    PubMed Central

    Bolde, Saroj; Pudale, Smita; Pandit, Gopal; Ruikar, Kirti; Ingle, Sachin B

    2015-01-01

    Congenital pulmonary airway malformation (CPAM), previously known as congenital cystic adenomatoid malformation is a congenital disorder of the lung similar to bronchopulmonary sequestration. In CPAM, usually an entire lobe of lung is replaced by a non-working cystic piece of abnormal lung tissue. This abnormal tissue will never function as normal lung tissue. The underlying cause for CPAM is not known. It occurs in approximately 1 in every 30000 pregnancies. The association between CPAM and malignancy has been well documented. There is a small risk (0.7%) of malignant transformation within the cyst. So early diagnosis and surgical resection is important to prevent the grave complications. Herein, we are reporting two interesting cases of CPAM and one belonged to Type II and other belonged to Type III of Stocker’s classification. PMID:25984523

  16. Spontaneous thrombosis of a vein of galen malformation.

    PubMed

    Mohanty, Chandan B; Srinivas, Dwarakanath; Sampath, Somanna

    2016-01-01

    Vein of Galen malformation (VOGM) is a rare congenital vascular anomaly, comprising about 1% of all intracranial vascular anomalies, predominantly affecting the children less than 1 year of age. A 6-month-old infant presented with complaints of increasing head size of 3 months duration and multiple episodes of vomiting associated with refusal to feed since 7 days. He was a known case of VOGM who had initially refused treatment. Investigations revealed a spontaneously thrombosed VOGM with obstructive hydrocephalous. Child improved uneventfully with ventriculoperitoneal shunt. Spontaneous thrombosis of a VOGM is a rare occurrence and carries a better prognosis. The relevant literature is discussed with emphasis on etiopathogenesis, mechanism, and management of spontaneous thrombosis of the malformation. PMID:26889287

  17. Spontaneous thrombosis of a vein of galen malformation

    PubMed Central

    Mohanty, Chandan B.; Srinivas, Dwarakanath; Sampath, Somanna

    2016-01-01

    Vein of Galen malformation (VOGM) is a rare congenital vascular anomaly, comprising about 1% of all intracranial vascular anomalies, predominantly affecting the children less than 1 year of age. A 6-month-old infant presented with complaints of increasing head size of 3 months duration and multiple episodes of vomiting associated with refusal to feed since 7 days. He was a known case of VOGM who had initially refused treatment. Investigations revealed a spontaneously thrombosed VOGM with obstructive hydrocephalous. Child improved uneventfully with ventriculoperitoneal shunt. Spontaneous thrombosis of a VOGM is a rare occurrence and carries a better prognosis. The relevant literature is discussed with emphasis on etiopathogenesis, mechanism, and management of spontaneous thrombosis of the malformation. PMID:26889287

  18. Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation.

    PubMed

    Zaki, Maha S; Saleem, Sahar N; Dobyns, William B; Barkovich, A James; Bartsch, Hauke; Dale, Anders M; Ashtari, Manzar; Akizu, Naiara; Gleeson, Joseph G; Grijalvo-Perez, Ana Maria

    2012-08-01

    We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic-mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic-mesencephalic junction with a characteristic 'butterfly'-like contour of the midbrain on axial sections. Additional imaging features included variable degrees of supratentorial ventricular dilatation and hypoplasia to complete agenesis of the corpus callosum. Diffusion tensor imaging showed diffuse hypomyelination and lack of an identifiable corticospinal tract. All patients displayed severe cognitive impairment, post-natal progressive microcephaly, axial hypotonia, spastic quadriparesis and seizures. Autistic features were noted in older cases. Talipes equinovarus, non-obstructive cardiomyopathy and persistent hyperplastic primary vitreous were additional findings in two families. One of the patients required shunting for hydrocephalus; however, this yielded no change in ventricular size suggestive of dysplasia rather than obstruction. We propose the term 'diencephalic-mesencephalic junction dysplasia' to characterize this autosomal recessive malformation. PMID:22822038

  19. Pediatric lymphatic malformations: evolving understanding and therapeutic options.

    PubMed

    Defnet, Ann M; Bagrodia, Naina; Hernandez, Sonia L; Gwilliam, Natalie; Kandel, Jessica J

    2016-05-01

    Multimodal treatment of lymphatic malformations continues to expand as new information about the biology and genetics of these lesions is discovered, along with knowledge gained from clinical practice. A patient-centered approach, ideally provided by a multidisciplinary medical and surgical team, should guide timing and modality of treatment. Current treatment options include observation, surgery, sclerotherapy, radiofrequency ablation, and laser therapy. New medical and surgical therapies are emerging, and include sildenafil, propranolol, sirolimus, and vascularized lymph node transfer. The primary focus of management is to support and optimize these patients' quality of life. Researchers continue to study lymphatic malformations with the goal of increasing therapeutic options and developing effective clinical pathways for these complicated lesions. PMID:26815877

  20. [Congenital vascular malformations: epidemiology, classification and therapeutic basis].

    PubMed

    Pereira Albino, J

    2010-01-01

    Congenital vascular malformations are part of the rare diseases of angiology and vascular surgery and can present in a variety of forms. They rise a lot of doubts and many diagnostic and therapeutic challenges. Treatment options are widely variable and often debated; surgeons usually have doubts about the best procedure to adopt. It is also an area of great anatomic and functional variability where the confusion regarding the nomenclature and classifications has been frequent, rendering difficult to adopt standardized measures. There have been significant advances in the recent years towards reaching a consensus. Based on his practical clinical experience and past work on these issues, the author reviews the epidemiology, the classifications and the therapeutic basis of this pathology. The author emphasizes the fact that the International Society for the Study of Vascular Anomalies (ISSVA) classification provides a useful framework for classifying vascular anomalies, as well as the therapeutic percutaneous embolization using polidocanol foam to control venous malformations. PMID:20972487

  1. Ischaemic stroke with intact atrial septum--exclude arteriovenous malformations.

    PubMed

    Doering, Friederike; Eicken, Andreas; Hess, John

    2014-02-01

    A 44-year-old woman was referred to our centre for interventional cardiac catheterisation. The diagnostic work-up after a preceding ischaemic stroke led to the assumption of a patent foramen ovale due to a positive bubble study. Before the planned percutaneous closure of the patent foramen ovale, we performed a second bubble study, which showed an intact atrial septum. However, after two to three heart cycles bubbles could be detected in the left atrium, assuming a right-to-left shunt of an extracardiac origin most likely in the lung. We therefore performed cardiac catheterisation, yielding a pulmonary arteriovenous malformation in the lower lobe of the right lung. This was successfully closed interventionally by placing a Cook coil, as well as several plugs into the malformation and feeding vessels. PMID:23347820

  2. Urorectal septum malformation sequence in a newborn with VACTERL association.

    PubMed

    Patra, Soumya; Purkait, Radheshyam

    2012-02-01

    Urorectal septum malformation sequence (URSMS) is an extremely rare anomaly, consists of multiple system anomalies including ambiguous genitalia, absence of a perineal opening, an imperforate anus, and urological, colonic and lumbosacral defects. We describe a newborn with characteristic URSMS who also had features of congenital varus deformity of leg, polydactyly, tracheo-oesophageal fistula, cardiac defect, anal atresia and hydronephrosis in antenatal ultrasound characteristic of VACTERL association. PMID:22313652

  3. [Combined treatment of arteriovenous malformations of the head and neck].

    PubMed

    Galich, S P; Dabizha, A Iu; Gindich, O A; Ogorodnik, Ia P; Al'tman, I V; Gomoliako, I V; Guch, A A

    2015-01-01

    An arteriovenous malformation (AVM) is a vascular developmental abnormality conditioned by impaired embryonic morphogenesis and characterized by the development of an abnormal connection between arteries and veins. More than 50% of the total number of patients suffering from this pathology are those having the pathological foci localizing in the area of the head and neck. At present, a combined method is both a generally accepted and the most radical one used for treatment for AVM. However, in the majority of cases, excision of the malformation leaves an extensive and complicated defect of tissues, whose direct closure leads to coarse cicatricious deformities. Over the period from 2004 to 2012, we followed up a total of 37 patients presenting with arteriovenous malformations of the head and neck. At admission the patients underwent preoperative examination including clinical tests, ultrasound duplex scanning, arteriography, MRT, and computed tomography. 24-72 hours prior to the operative intervention the patients were subjected to embolisation of the main vessels supplying the vascular malformation. Excision of the AVM was in 8 cases followed by primary closure of the postoperative wound, in 17 patients the defect was closed by transposition of the axial flaps, and 12 subjects underwent free transplantation of composite complexes of tissues. Relapse of the disease was revealed in 17 patients. In the majority of cases, relapses developed during the first year after the operative intervention (10 cases). The control of the disease's course was obtained in 20 patients. In 8 of the 12 patients with free transplantation of flaps we managed to obtain long-term control over the disease's course (more than 5 years). Hence, free microsurgical transplantation of compound complexes of tissues may be considered as a method of choice for closing the defect after excising an AVM in the area of the head and neck. Replacement of the defect with a well-vascularized tissue complex

  4. Radiosurgery for cerebral arteriovenous malformations in hereditary hemorrhagic telangiectasia.

    PubMed

    Maarouf, M; Runge, M; Kocher, M; Zähringer, M; Treuer, H; Sturm, V

    2004-07-27

    The authors evaluated the efficacy of radiosurgery (RS) for cerebral arteriovenous malformations in hereditary hemorrhagic telangiectasia (HHT AVMs). Two patients with seven HHT AVMs were treated by linear accelerator-RS. Complete obliteration was achieved 18 to 24 months post-treatment without side effects. Because HHT AVMs are small and multiple, RS is superior to microsurgery because it is noninvasive and all AVMs can be treated in one session regardless of their location. PMID:15277641

  5. Gated magnetic resonance imaging of congenital cardiac malformations

    SciTech Connect

    Fletcher, B.D.; Jocobstein, M.D.; Nelson, A.D.; Riemenschneider, T.A.; Alfidi, R.J.

    1984-01-01

    Magnetic resonance (MR) images of a variety of cardiac malformations in 19 patients aged 1 week to 33 years were obtained using pulse plethysmographic- or ECG-gated spin echo pulse sequences. Coronal, axial, and sagittal images displaying intracardiac structures with excellent spatial and contrast resolution were acquired during systole or diastole. It is concluded that MR will be a valuable noninvasive method of diagnosing congenital heart disease.

  6. Congenital malformations: an inquiry into classification and nomenclature.

    PubMed Central

    Kalter, H

    1998-01-01

    In the beginning, as a familiar book recalls, the earth was a formless void. And by separating light from dark, water from sky, life from dust, order came forth. Thus appeared organisation and categorisation. This is to say, classification, since to classify is to make for order and clarity. These are the qualities needed today for the study of congenital malformations and eventual control of their occurrence. What follows is an inquiry into the present state of this desideratum. PMID:9719373

  7. Parental perceptions of congenital cardiovascular malformations in their children.

    PubMed

    Ezzat, Sameera; Saeedi, Osamah; Saleh, Doa'a A; Hamzeh, Hala; Hamid, Mohamed A; Crowell, Nancy; Boostrom, Camille; Loffredo, Christopher A; Jillson, Irene A

    2016-08-01

    We assessed parental attitudes towards congenital cardiovascular malformations in their children in a cross-sectional study in Egypt. Parents face many problems related to concerns about their child's prognosis, but these associations with parental stress have never been evaluated in Egypt or examined in relation to religiosity in a predominantly Muslim society. Accordingly, we conducted interviews in Cairo with mothers of 99 sequential infants born with conotruncal heart malformations (cases) and 65 mothers of age-matched controls. The survey assessed healthcare access and usage, knowledge of congenital cardiovascular malformations, religiosity, the Locus of Control Scale, and the Parenting Stress Index. Results showed that 45% of the mothers of cases had correct knowledge about their child's diagnosis; 85% were satisfied with the clinical care; and 79% reported that the cost of care was burdensome. Compared with parents of cases, parents of controls were more likely to report stress overall and all its subscales. Regarding belief about locus of control over health, God as a determining factor was given the highest endorsement. Mothers in the congenital cardiovascular malformations group reported a higher level of parental locus of control than did those in the control group. The correlations between stress and locus of control were stronger in the control than in the case group. Religiosity was related neither to stress nor to locus of control. Future studies can explore the roles that personal, familial, and societal factors play in exacerbating or reducing stress levels among parents of sick children, particularly in developing countries where economic pressures are acute. PMID:26561359

  8. Thoracoscopic anatomical resection of congenital lung malformations in adults

    PubMed Central

    Macias, Lidia; Ojanguren, Amaia; Dahdah, Julien

    2015-01-01

    Congenital lung malformations (CLM) are a heterogeneous group of disorders that may require surgical resection to prevent complications. Thoracoscopic resection of CLM has been reported in infants. Our goal was to state whether it can also be a viable option in adults. Between 2007 and 2014, 11 patients had a thoracoscopic resection of a CLM (six lobectomies and five anatomic segmentectomies) with satisfactory results. Although being more challenging in adults due to infectious sequellae, this approach is safe. PMID:25922729

  9. Headache and Chiari I Malformation in Children and Adolescents.

    PubMed

    Victorio, M Cristina; Khoury, Chaouki K

    2016-02-01

    Headache is a common problem in children and adolescents. Its recurrent and disabling nature may lead to use of neuroimaging to exclude secondary causes of headache such as Chiari I malformation (CM I). CM I has a variety of presentation with headache being the most common symptom. CM I can be asymptomatic and is also often found incidentally in neuroimaging done for conditions other than headache. This article reviews the spectrum of headache in patients with CM I. PMID:27017020

  10. [Anorectal malformations: their diagnosis and the initial decisions].

    PubMed

    de Espinosa, H

    1994-05-01

    The author presents the salient aspects of anorectal malformation which allow us to simplify their anatomical diagnosis. In many cases only clinical means are used while in others adequate use of technical studies are necessary. This enables us to reach therapeutic decisions in the simplest and most orderly fashion so that patients with these anomalies may be given the opportunity of attaining normal or near normal function. PMID:7991806

  11. Novel Image-Guided Management of a Uterine Arteriovenous Malformation

    SciTech Connect

    Przybojewski, Stefan J. Sadler, David J.

    2011-02-15

    The investigators present a novel image-guided embolization, not previously described, of a uterine arteriovenous malformation (AVM) resistant to endovascular management. The uterus was exposed surgically, and Histoacryl (Braun, Fulda, Germany) was injected directly into the nidus using ultrasound guidance and fluoroscopy. The patient had a successful full-term pregnancy after this procedure. This technique may be a useful alternative management strategy in patients with uterine AVM who fail traditional endovascular embolization and who still desire fertility.

  12. Mutations in zebrafish pitx2 model congenital malformations in Axenfeld-Rieger syndrome but do not disrupt left-right placement of visceral organs.

    PubMed

    Ji, Yongchang; Buel, Sharleen M; Amack, Jeffrey D

    2016-08-01

    Pitx2 is a conserved homeodomain transcription factor that has multiple functions during embryonic development. Mutations in human PITX2 cause autosomal dominant Axenfeld-Rieger syndrome (ARS), characterized by congenital eye and tooth malformations. Pitx2(-/-) knockout mouse models recapitulate aspects of ARS, but are embryonic lethal. To date, ARS treatments remain limited to managing individual symptoms due to an incomplete understanding of PITX2 function. In addition to regulating eye and tooth development, Pitx2 is a target of a conserved Nodal (TGFβ) signaling pathway that mediates left-right (LR) asymmetry of visceral organs. Based on its highly conserved asymmetric expression domain, the Nodal-Pitx2 axis has long been considered a common denominator of LR development in vertebrate embryos. However, functions of Pitx2 during asymmetric organ morphogenesis are not well understood. To gain new insight into Pitx2 function we used genome editing to create mutations in the zebrafish pitx2 gene. Mutations in the pitx2 homeodomain caused phenotypes reminiscent of ARS, including aberrant development of the cornea and anterior chamber of the eye and reduced or absent teeth. Intriguingly, LR asymmetric looping of the heart and gut was normal in pitx2 mutants. These results suggest conserved roles for Pitx2 in eye and tooth development and indicate Pitx2 is not required for asymmetric looping of zebrafish visceral organs. This work establishes zebrafish pitx2 mutants as a new animal model for investigating mechanisms underlying congenital malformations in ARS and high-throughput drug screening for ARS therapeutics. Additionally, pitx2 mutants present a unique opportunity to identify new genes involved in vertebrate LR patterning. We show Nodal signaling-independent of Pitx2-controls asymmetric expression of the fatty acid elongase elovl6 in zebrafish, pointing to a potential novel pathway during LR organogenesis. PMID:27297886

  13. The problem of vaginismus with congenital malformation of the genital tract.

    PubMed

    Jarząbek-Bielecka, Grażyna; Pisarska-Krawczyk, Magdalena; Kędzia, Witold; Mizgier, Małgorzata; Friebe, Zbigniew

    2016-01-01

    The persistent or recurrent difficulties of the woman to allow vaginal entry of a penis, a finger, and/or any object, despite the woman's expressed wish to do so" is vaginismus. Early traumatic sexual experiences (e.g. sexual abuse), religious orthodoxy, low self-esteem and body image, negative attitudes about sexuality, lack of knowledge about sex and fear responses are some of the traditional etiological correlates of vaginismus. Vaginismus is largely a diagnosis of exclusion. An interview is crucial in differentiating the causes of this disease and it should involve the following key questions: -whether the contraction of the vaginal muscles was recorded from the first sexual contact and still remains a need for sexual satisfaction is achieved without relations vaginal or -symptom occurs for some time and what circumstances it bound or -contraction of the muscles is independent of the will, reflex and is at the very idea of sexual intercourse, and -that the contraction of the vaginal muscles occurs when you try to enter the member into the vagina which is very painful. The physical, gynecological and sexuological examinations exclude local causes of the disease. The mainstay of treatment in the majority of cases is psychosexual support. The cause of organic vaginismus is congenital malformation of the genital tract. It results from abnormal development of genital paramesonephric (Müllerian) ducts and the urogenital sinus, which are structures involved in the process of oviduct, uterus, and vagina organogenesis. This has strong implications in the practices of gynecology and sexuology in general, not only in adolescent gynecology and sexuology. Vaginismus with congenital malformation is an important problem in these fields. PMID:27333925

  14. Congenital malformations of the central nervous system in spontaneous abortions.

    PubMed Central

    Creasy, M R; Alberman, E D

    1976-01-01

    A study of 2620 pregnancies ending in spontaneous abortion revealed a CNS defect in 3.6% of embryos and fetuses, and 3% of all complete conceptuses. The type of malformation observed varied with the gestational age at expulsion, encephaloceles being predominant in earlier specimens, while more typical anencephalus and spina bifida were more common among later abortions. Chromosome abnormalities were found in 40% of abortuses with CNS defects, but were almost entirely confined to those which were still at the embryonic stage of development. 53% of the latter were chromosomally abnormal, which is the same as the proportion found among embryos without a CNS malformation. Using published life-tables of recognized pregnancies it was estimated that the prevalence of anencephalus, spina bifida, or related malformation (other than hydrocephalus), without a chromosome anomaly, is 5.3 per thousand conceptuses at the beginning of the eighth week of gestation. By comparing this with the prevalence in total births, it was further estimated that only 24% of these are born alive, with 54% aborting spontaneously and 22% being stillborn. PMID:775092

  15. Environmental monitoring using malformed embryos of the amphipod Monoporeia affinis

    SciTech Connect

    Sundelin, B.; Eriksson, A.K.

    1995-12-31

    Reproduction variables of Monoporeia affinis, such as embryonic malformation were confirmed as the most sensitive variable, when soft bottom microcosms were exposed to metals such as cadmium and lead, arsenic, organic compounds such as 4,5,6 trichloroguaiacol, contaminated sediment from areas impacted by heavy metals and pulp mill effluents. The effects were demonstrated also in low concentrations that did not significantly affect the meiofauna community. The microcosm test-system with high ecological realism could offer a possibility to translate laboratory results to the natural environments. Field surveys outside different types of pulp mills and metal works on the coast of the Gulf of Bothnia have confirmed the laboratory results. Significantly higher levels of malformed embryos of Monoporeia affinis were demonstrated in the impacted areas in comparison with reference areas. The reproduction variables of Monoporeia affinis have been used in the national environmental monitoring program during two years and results indicated possibilities to distinguish between effects of xenobiotica and secondary eutrophication effects, such as unsaturated oxygen condition and occurrence of sulfides, which resulted in increased frequencies of dead eggs but not affected the frequencies of malformed eggs and embryos.

  16. Acute Porphyria in a Patient with Arnold Chiari Malformation

    PubMed Central

    Shen, Jianbin; O’Keefe, Kevin; Webb, Lisa B.; DeGirolamo, Angela

    2015-01-01

    Patient: Female, 33 Final Diagnosis: Acute porphyria Symptoms: Abdominal pain • alternating bowel habits Medication: Metronidazole • bactrim • oxybutynin Clinical Procedure: EMG • porhyria workup Specialty: Neurology Objective: Rare disease Background: Acute porphyria and Arnold Chiari malformation are both uncommon genetic disorders without known association. The insidious onset, non-specific clinical manifestations, and precipitating factors often cause diagnosis of acute porphyria to be missed, particularly in patients with comorbidities. Case Report: A women with Arnold Chiari malformation type II who was treated with oxybutynin and antibiotics, including Bactrim for neurogenic bladder and recurrent urinary tract infection, presented with non-specific abdominal pain, constipation, and diarrhea. After receiving Flagyl for C. difficile colitis, the patient developed psychosis, ascending paralysis, and metabolic derangements. She underwent extensive neurological workup due to her congenital neurological abnormalities, most of which were unremarkable. As a differential diagnosis of Guillain Barré syndrome, acute porphyria was then considered and ultimately proved to be the diagnosis. After hematin administration and intense rehabilitation, the patient slowly recovered from the full-blown acute porphyria attack. Conclusions: This case report, for the first time, documents acute porphyria attack as a result of a sequential combination of 3 common medications. This is the first case report of the concomitant presence of both acute porphyria and Arnold Chiari malformation, 2 genetic disorders with unclear association. PMID:25697467

  17. Sonographic markers for early diagnosis of fetal malformations

    PubMed Central

    Renna, Maria Daniela; Pisani, Paola; Conversano, Francesco; Perrone, Emanuele; Casciaro, Ernesto; Renzo, Gian Carlo Di; Paola, Marco Di; Perrone, Antonio; Casciaro, Sergio

    2013-01-01

    Fetal malformations are very frequent in industrialized countries. Although advanced maternal age may affect pregnancy outcome adversely, 80%-90% of fetal malformations occur in the absence of a specific risk factor for parents. The only effective approach for prenatal screening is currently represented by an ultrasound scan. However, ultrasound methods present two important limitations: the substantial absence of quantitative parameters and the dependence on the sonographer experience. In recent years, together with the improvement in transducer technology, quantitative and objective sonographic markers highly predictive of fetal malformations have been developed. These markers can be detected at early gestation (11-14 wk) and generally are not pathological in themselves but have an increased incidence in abnormal fetuses. Thus, prenatal ultrasonography during the second trimester of gestation provides a “genetic sonogram”, including, for instance, nuchal translucency, short humeral length, echogenic bowel, echogenic intracardiac focus and choroid plexus cyst, that is used to identify morphological features of fetal Down’s syndrome with a potential sensitivity of more than 90%. Other specific and sensitive markers can be seen in the case of cardiac defects and skeletal anomalies. In the future, sonographic markers could limit even more the use of invasive and dangerous techniques of prenatal diagnosis (amniocentesis, etc.). PMID:24179631

  18. Pathophysiological analyses of cortical malformation using gyrencephalic mammals.

    PubMed

    Masuda, Kosuke; Toda, Tomohisa; Shinmyo, Yohei; Ebisu, Haruka; Hoshiba, Yoshio; Wakimoto, Mayu; Ichikawa, Yoshie; Kawasaki, Hiroshi

    2015-01-01

    One of the most prominent features of the cerebral cortex of higher mammals is the presence of gyri. Because malformations of the cortical gyri are associated with severe disability in brain function, the mechanisms underlying malformations of the cortical gyri have been of great interest. Combining gyrencephalic carnivore ferrets and genetic manipulations using in utero electroporation, here we successfully recapitulated the cortical phenotypes of thanatophoric dysplasia (TD) by expressing fibroblast growth factor 8 in the ferret cerebral cortex. Strikingly, in contrast to TD mice, our TD ferret model showed not only megalencephaly but also polymicrogyria. We further uncovered that outer radial glial cells (oRGs) and intermediate progenitor cells (IPs) were markedly increased. Because it has been proposed that increased oRGs and/or IPs resulted in the appearance of cortical gyri during evolution, it seemed possible that increased oRGs and IPs underlie the pathogenesis of polymicrogyria. Our findings should help shed light on the molecular mechanisms underlying the formation and malformation of cortical gyri in higher mammals. PMID:26482531

  19. Pathophysiological analyses of cortical malformation using gyrencephalic mammals

    PubMed Central

    Masuda, Kosuke; Toda, Tomohisa; Shinmyo, Yohei; Ebisu, Haruka; Hoshiba, Yoshio; Wakimoto, Mayu; Ichikawa, Yoshie; Kawasaki, Hiroshi

    2015-01-01

    One of the most prominent features of the cerebral cortex of higher mammals is the presence of gyri. Because malformations of the cortical gyri are associated with severe disability in brain function, the mechanisms underlying malformations of the cortical gyri have been of great interest. Combining gyrencephalic carnivore ferrets and genetic manipulations using in utero electroporation, here we successfully recapitulated the cortical phenotypes of thanatophoric dysplasia (TD) by expressing fibroblast growth factor 8 in the ferret cerebral cortex. Strikingly, in contrast to TD mice, our TD ferret model showed not only megalencephaly but also polymicrogyria. We further uncovered that outer radial glial cells (oRGs) and intermediate progenitor cells (IPs) were markedly increased. Because it has been proposed that increased oRGs and/or IPs resulted in the appearance of cortical gyri during evolution, it seemed possible that increased oRGs and IPs underlie the pathogenesis of polymicrogyria. Our findings should help shed light on the molecular mechanisms underlying the formation and malformation of cortical gyri in higher mammals. PMID:26482531

  20. Surgical and Endovascular Treatment for Spinal Arteriovenous Malformations

    PubMed Central

    ENDO, Toshiki; ENDO, Hidenori; SATO, Kenichi; MATSUMOTO, Yasushi; TOMINAGA, Teiji

    2016-01-01

    Spinal arteriovenous malformation (AVM) is a broad term that constitutes diverse vascular pathologies. To date, various classification schemes for spinal AVM have been proposed in literature, which helped neurosurgeons understand the pathophysiology of the disease and determine an optimal treatment strategy. To discuss indications and results of surgical and endovascular interventions for spinal AVM, this article refers to the following classification proposed by Anson and Spetzler in 1992: type I, dural arteriovenous fistula (AVF); type II, glomus intramedullary AVM; type III, juvenile malformations; and type IV, perimedullary AVF. In general, complete obliteration of the fistula is a key for better outcome in type I dural and type IV perimedullary AVFs. On the other hand, in type II glomus and type III juvenile malformations, functional preservation, instead of pursuing angiographical cure, is the main goal of the treatment. In such cases, reduction of the shunt flow can alleviate clinical symptoms. Proper management of spinal AVM should start with neurological examination and understanding of angioarchitectures, which provide critical information that guides the indication and modality of intervention. Finally, close collaboration of the microsurgical and endovascular teams are mandatory for successful treatment. PMID:26948701

  1. Advances in ultrasound imaging for congenital malformations during early gestation

    PubMed Central

    Rayburn, William F.; Jolley, Jennifer A.; Simpson, Lynn L.

    2015-01-01

    With refinement in ultrasound technology, detection of fetal structural abnormalities has improved and there have been detailed reports of the natural history and expected outcomes for many anomalies. The ability to either reassure a high-risk woman with normal intrauterine images or offer comprehensive counseling and offer options in cases of strongly suspected lethal or major malformations has shifted prenatal diagnoses to the earliest possible gestational age. When indicated, scans in early gestation are valuable in accurate gestational dating. Stricter sonographic criteria for early nonviability guard against unnecessary intervention. Most birth defects are without known risk factors, and detection of certain malformations is possible in the late first trimester. The best time for a standard complete fetal and placental scan is 18–20 weeks. In addition, certain soft anatomic markers provide clues to chromosomal aneuploidy risk. Maternal obesity and multifetal pregnancies are now more common and further limit early gestation visibility. Other advanced imaging techniques during early gestation in select cases of suspected malformations include fetal echocardiography and magnetic resonance imaging. PMID:25820190

  2. Mitochondrial Factors and VACTERL Association-Related Congenital Malformations

    PubMed Central

    Siebel, S.; Solomon, B.D.

    2013-01-01

    VACTERL/VATER association is a group of congenital malformations characterized by at least 3 of the following findings: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. To date, no unifying etiology for VACTERL/VATER association has been established, and there is strong evidence for causal heterogeneity. VACTERL/VATER association has many overlapping characteristics with other congenital disorders that involve multiple malformations. In addition to these other conditions, some of which have known molecular causes, certain aspects of VACTERL/VATER association have similarities with the manifestations of disorders caused by mitochondrial dysfunction. Mitochondrial dysfunction can result from a number of distinct causes and can clinically manifest in diverse presentations; accurate diagnosis can be challenging. Case reports of individuals with VACTERL association and confirmed mitochondrial dysfunction allude to the possibility of mitochondrial involvement in the pathogenesis of VACTERL/VATER association. Further, there is biological plausibility involving mitochondrial dysfunction as a possible etiology related to a diverse group of congenital malformations, including those seen in at least a subset of individuals with VACTERL association. PMID:23653577

  3. Guidelines for the treatment of head and neck venous malformations

    PubMed Central

    Zheng, Jia Wei; Mai, Hua Ming; Zhang, Ling; Wang, Yan An; Fan, Xin Dong; Su, Li Xin; Qin, Zhong Ping; Yang, Yao Wu; Jiang, Yin Hua; Zhao, Yi Fang; Suen, James Y

    2013-01-01

    Venous malformation is one of the most common benign vascular lesions, with approximately 40% of cases appearing in the head and neck. They can affect a patient’s appearance and functionality and even cause life-threatening bleeding or respiratory tract obstruction. The current methods of treatment include surgery, laser therapy, sclerotherapy, or a combined. The treatment of small and superficial venous malformations is relatively simple and effective; however, the treatment of deep and extensive lesions involving multiple anatomical sites remains a challenge for the physicians. For complex cases, the outcomes achieved with one single treatment approach are poor; therefore, individualized treatment modalities must be formulated based on the patient’s condition and the techniques available. Comprehensive multidisciplinary treatments have been adapted to achieve the most effective results. In this paper, based on the national and international literature, we formulated the treatment guidelines for head and neck venous malformations to standardize clinical practice. The guideline will be renewed and updated in a timely manner to reflect cutting-edge knowledge and to provide the best treatment modalities for patients. PMID:23724158

  4. Chiari malformation type I: a new MRI classification.

    PubMed

    Amer, T A; el-Shmam, O M

    1997-01-01

    Thirty patients with Chiari I malformation were examined by MRI over 2-year period. All patients underwent MRI scan before and after surgical decompression of the posterior fossa. Images of the craniocervical junction confirmed tonsillar herniation in all cases and allowed the definition of two anatomically distinct types of Chiari malformation. Twenty-one of the 30 patients (70%) had concomitant syringomyelia and were classified as type A, while the remaining 9 patients (30%) had evidence of frank herniation of the cerebellar tonsils below the foramen magnum without evidence of syringomyelia and were labeled type B. Type A patients had a predominant central cord symptomatology; type B patients exhibited signs and symptoms of brain stem or cerebellar compression. The concomitant cord cavitary lesions (syringomyelia) were noncommunicating (isolated syrinxes), which were separated from the fourth ventricle by a syrinx-free segment of normal spinal cord. Holocord hydromyelic cavities were seen in 8 out of 21 patients with syringomyelia, isolated cervical cavities were seen in 4 patients, while combined cervical and thoracic cavities were seen in 9 patients. Kinking of the medullocervical junction and brain stem was seen in 20 out of 30 patients (67%). MRI has proved to be an excellent, noninvasive means of studying of the craniocervical anatomy; it has allowed a classification of Chiari malformation based on objective anatomic criteria with prognostic and clinical relevance. PMID:9223040

  5. Pursuit Eye Movements

    NASA Technical Reports Server (NTRS)

    Krauzlis, Rich; Stone, Leland; Null, Cynthia H. (Technical Monitor)

    1998-01-01

    When viewing objects, primates use a combination of saccadic and pursuit eye movements to stabilize the retinal image of the object of regard within the high-acuity region near the fovea. Although these movements involve widespread regions of the nervous system, they mix seamlessly in normal behavior. Saccades are discrete movements that quickly direct the eyes toward a visual target, thereby translating the image of the target from an eccentric retinal location to the fovea. In contrast, pursuit is a continuous movement that slowly rotates the eyes to compensate for the motion of the visual target, minimizing the blur that can compromise visual acuity. While other mammalian species can generate smooth optokinetic eye movements - which track the motion of the entire visual surround - only primates can smoothly pursue a single small element within a complex visual scene, regardless of the motion elsewhere on the retina. This ability likely reflects the greater ability of primates to segment the visual scene, to identify individual visual objects, and to select a target of interest.

  6. Through Our Eyes

    ERIC Educational Resources Information Center

    Narva, Sara

    2009-01-01

    Through Our Eyes was a multimedia performance created in collaboration with the author's five modern dance students. Through video, sound, and dance, the piece shows some ways race has affected their lives. The author did not set out at the beginning of the semester to make this project in her dance class. It was born out of a hard conversation,…

  7. The Eyes Have It.

    ERIC Educational Resources Information Center

    Walsh, Janet

    1982-01-01

    Discusses the health hazards of working with the visual display systems of computers, in particular the eye problems associated with long-term use of video display terminals. Excerpts from and ordering information for the National Institute for Occupational Safety and Health report on such hazards are included. (JJD)

  8. The Eyes Have It

    NASA Technical Reports Server (NTRS)

    1999-01-01

    NASA'S Ames Research Center contracted with SRI international to contract a device that would be able to anticipate, track, and monitor involuntary ocular movement horizontally, vertically, and with respect to depth-of-field. This development helped research institutions to understand the eye. The Eyetracker, manufactured and distributed by Forward Optical Technologies, Inc. is now used in the clinical/medical field.

  9. Through Students' Eyes.

    ERIC Educational Resources Information Center

    McLean-Donaldson, Karen B.

    1994-01-01

    Identifies how students perceive racism and its effects on student learning and whether antiracist/multicultural arts (ARMA) curricula can empower students to address racism in schools. Results show racism, through students' eyes, damages learning, attitudes, and behavior. ARMA positively effected students' ability to confront racism within their…

  10. Administering Eye Medications.

    ERIC Educational Resources Information Center

    Morris, Sara; Michael, Nancy, Ed.

    This module on administering eye medications is intended for use in inservice or continuing education programs for persons who administer medications in long-term care facilities. Instructor information, including teaching suggestions, and a listing of recommended audiovisual materials and their sources appear first. A brief discussion follows of…

  11. Red or uncomfortable eye.

    PubMed Central

    Davey, C.; Hurwitz, B.

    1992-01-01

    1. A red, uncomfortable eye may be accompanied by other symptoms such as blurred, decreased, or double vision, haloes, photophobia, pain or discharge. 2. A careful history and brief systematic examination will sort out most problems. 3. Examine eyelids, the conjunctivae and corneas. Checking visual acuity is often important. 4. The most common underlying causes can usually be managed within general practice, though a few patients will require urgent eye assessment, or routine referral to ophthalmic outpatients. 5. The following are typical eye problems which require urgent referral: History of pain as opposed to discomfort, Trauma including foreign bodies, chemicals and suspected penetrating injury, Unexplained drop in visual acuity of two lines or more in a painful eye. Specific conditions: preseptal cellulitis, herpes simplex ulcer, scleritis, orbital cellulitis, herpes zoster, bacterial corneal ulcer, dacryocystitis. 6. The following are typical problems which may require routine referral: Persistence of the problem not relieved by simple measures, Recurrent disorders of uncertain diagnosis, Eyelid swelling such as chalazion, cysts, basal cell carcinoma, Gradual loss of vision, for example cataract, macular degeneration. PMID:1345157

  12. Diabetes - eye care

    MedlinePlus

    ... blurred vision is caused by having too much sugar and water in the lens of the eye, which is in front of the retina. Control your blood pressure . Blood pressure less than 130/80 is a ... sugar - self-care Diabetes - preventing heart attack and stroke ...

  13. Eye of the Beholder

    ERIC Educational Resources Information Center

    Rogers, Michael

    2010-01-01

    Art, like beauty, as the adage goes, is in the eye of the beholder. Art also is a living, breathing thing that evolves over time, so what is considered "art" is ever changing--how many of the great artists whose works today sell for fortunes were failures during their lifetime? The 20th century unknowingly gave birth to new variations of art that…

  14. Eyes for Learning

    ERIC Educational Resources Information Center

    Orfield, Antonia

    2008-01-01

    Vision is the dominant sense, and the eyes are connected with almost every other part of the brain. If the vision system is poorly developed, children trying to learn suffer. Without good up close vision, students are handicapped even if no one knows or suspects it--they may not even know it themselves. Students do not know that the way they see…

  15. Common eye emergencies.

    PubMed

    Gelston, Christopher D

    2013-10-15

    Ocular emergencies such as retinal detachments, mechanical globe injuries, and chemical injuries can cause permanent vision loss if they are not recognized and treated promptly. Family physicians should be familiar with the signs and symptoms associated with each condition, and be able to perform a basic eye examination to assess the situation. The assessment includes measurement of visual acuity, pupillary examination, visual field testing, slit lamp or penlight examination of the anterior segment of the eye, and direct funduscopic examination. Patients with symptomatic floaters and flashing lights require a dilated fundoscopic examination and prompt referral to an ophthalmologist for evaluation of a retinal tear or detachment. A globe laceration or rupture should be suspected in patients with a recent history of trauma from a blunt or penetrating object. Prophylactic oral antibiotics can be administered after a globe injury to prevent endophthalmitis, and the eye should be covered with a metal shield until evaluation by an ophthalmologist. Chemical injuries require immediate irrigation of the eye to neutralize the pH of the ocular surface. PMID:24364572

  16. Simple Solutions for Dry Eye

    MedlinePlus

    ... are more concentrated in the tear film of dry eye patients. In hot weather, sleep with the windows shut and keep cool with air conditioning. • Dry eye patients often develop or aggravate allergies. An ...

  17. Infographic on the Aging Eye

    MedlinePlus

    ... retina. Dry eye Low vision Damage to the optic nerve. Eyes do not make enough tears. Difficulty ... retina that can be seen through undilated pupil. OPTIC NERVE RAY OF LIGHT PUPIL RETINA Portion of ...

  18. Recognizing and Treating Eye Injuries

    MedlinePlus

    ... and seek medical attention. In case of a chemical burn to the eye: Immediately flush the eye ... Academy Jobs at the Academy Financial Relationships with Industry Medical Disclaimer Privacy Policy Terms of Service For ...

  19. Medicare Benefits and Your Eyes

    MedlinePlus

    ... Eye Health Report Reports and External Resources The Cost of Vision Problems The Future of Vision Vision Problems in the U.S. Healthy Eyes Education Series Online Training and Certification Patient Education Materials ...

  20. The human brain and face: mechanisms of cranial, neurological and facial development revealed through malformations of holoprosencephaly, cyclopia and aberrations in chromosome 18.

    PubMed

    Gondré-Lewis, Marjorie C; Gboluaje, Temitayo; Reid, Shaina N; Lin, Stephen; Wang, Paul; Green, William; Diogo, Rui; Fidélia-Lambert, Marie N; Herman, Mary M

    2015-09-01

    The study of inborn genetic errors can lend insight into mechanisms of normal human development and congenital malformations. Here, we present the first detailed comparison of cranial and neuro pathology in two exceedingly rare human individuals with cyclopia and alobar holoprosencephaly (HPE) in the presence and absence of aberrant chromosome 18 (aCh18). The aCh18 fetus contained one normal Ch18 and one with a pseudo-isodicentric duplication of chromosome 18q and partial deletion of 18p from 18p11.31 where the HPE gene, TGIF, resides, to the p terminus. In addition to synophthalmia, the aCh18 cyclopic malformations included a failure of induction of most of the telencephalon - closely approximating anencephaly, unchecked development of brain stem structures, near absence of the sphenoid bone and a malformed neurocranium and viscerocranium that constitute the median face. Although there was complete erasure of the olfactory and superior nasal structures, rudiments of nasal structures derived from the maxillary bone were evident, but with absent pharyngeal structures. The second non-aCh18 cyclopic fetus was initially classified as a true Cyclops, as it appeared to have a proboscis and one median eye with a single iris, but further analysis revealed two eye globes as expected for synophthalmic cyclopia. Furthermore, the proboscis was associated with the medial ethmoid ridge, consistent with an incomplete induction of these nasal structures, even as the nasal septum and paranasal sinuses were apparently developed. An important conclusion of this study is that it is the brain that predicts the overall configuration of the face, due to its influence on the development of surrounding skeletal structures. The present data using a combination of macroscopic, computed tomography (CT) and magnetic resonance imaging (MRI) techniques provide an unparalleled analysis on the extent of the effects of median defects, and insight into normal development and patterning of the brain

  1. Eye Contact Modulates Cognitive Processing Differently in Children With Autism

    PubMed Central

    Falck-Ytter, Terje; Carlström, Christoffer; Johansson, Martin

    2015-01-01

    In humans, effortful cognitive processing frequently takes place during social interaction, with eye contact being an important component. This study shows that the effect of eye contact on memory for nonsocial information is different in children with typical development than in children with autism, a disorder of social communication. Direct gaze facilitated memory performance in children with typical development (n = 25, 6 years old), but no such facilitation was seen in the clinical group (n = 10, 6 years old). Eye tracking conducted during the cognitive test revealed strikingly similar patterns of eye movements, indicating that the results cannot be explained by differences in overt attention. Collectively, these findings have theoretical significance and practical implications for testing practices in children. PMID:25132220

  2. Experiments on a Model Eye

    ERIC Educational Resources Information Center

    Arell, Antti; Kolari, Samuli

    1978-01-01

    Explains a laboratory experiment dealing with the optical features of the human eye. Shows how to measure the magnification of the retina and the refractive anomaly of the eye could be used to measure the refractive power of the observer's eye. (GA)

  3. How the Human Eye Focuses.

    ERIC Educational Resources Information Center

    Koretz, Jane F.; Handelman, George H.

    1988-01-01

    Describes the decline in people's ability to focus their eyes as their age increases. Discusses probable causes of this effect including changes in the eye's geometry and biochemistry. Diagrammatically illustrates age related changes in the lens of the human eye. (CW)

  4. Eye Protection in Kansas Schools.

    ERIC Educational Resources Information Center

    Hay, Kenneth M.; And Others

    A law passed by a state legislature requires that students in industrial arts shops and science laboratories must wear eye protective devices. Explanatory material presents the text of the bill and guidelines for implementation, including--(1) types of eye hazards, (2) types of protective devices, (3) administrating eye safety equipment, (4)…

  5. Reconstructing the eyes of Urbilateria.

    PubMed Central

    Arendt, D; Wittbrodt, J

    2001-01-01

    The shared roles of Pax6 and Six homologues in the eye development of various bilaterians suggest that Urbilateria, the common ancestors of all Bilateria, already possessed some simple form of eyes. Here, we re-address the homology of bilaterian cerebral eyes at the level of eye anatomy, of eye-constituting cell types and of phototransductory molecules. The most widespread eye type found in Bilateria are the larval pigment-cup eyes located to the left and right of the apical organ in primary, ciliary larvae of Protostomia and Deuterostomia. They can be as simple as comprising a single pigment cell and a single photoreceptor cell in inverse orientation. Another more elaborate type of cerebral pigment-cup eyes with an everse arrangement of photoreceptor cells is found in adult Protostomia. Both inverse larval and everse adult eyes employ rhabdomeric photoreceptor cells and thus differ from the chordate cerebral eyes with ciliary photoreceptors. This is highly significant because on the molecular level we find that for phototransduction rhabdomeric versus ciliary photoreceptor cells employ divergent rhodopsins and non-orthologous G-proteins, rhodopsin kinases and arrestins. Our comparison supports homology of cerebral eyes in Protostomia; it challenges, however, homology of chordate and non-chordate cerebral eyes that employ photoreceptor cells with non-orthologous phototransductory cascades. PMID:11604122

  6. LIMNOLOGICAL OPTOMETRY: EXAMINING EARTH'S EYE

    EPA Science Inventory

    In Thoreau's Walden, a lake is described as the landscape's most expressive feature and the earth's eye. Collectively, scientists are charged by society to assess, monitor, and remedy maladies of earth's eye in the same way optometrists maintain the health of the human eye. This ...

  7. Saccadic Adaptation Is Associated with Starting Eye Position

    PubMed Central

    Gremmler, Svenja; Lappe, Markus

    2016-01-01

    Saccadic adaptation is the motor learning process that keeps saccade amplitudes on target. This process is eye position specific: amplitude adaptation that is induced for a saccade at one particular location in the visual field transfers incompletely to saccades at other locations. In our current study, we investigated wether this eye position signal corresponds to the initial or to the final eye position of the saccade. Each case would have different implications on the mechanisms of adaptation. The initial eye position is not directly available, when the adaptation driving post saccadic error signal is received. On the other hand the final eye position signal is not available, when the motor command for the saccade is calculated. In six human subjects we adapted a saccade of 15 degree amplitude that started at a constant position. We then measured the transfer of adaptation to test saccades of 10 and 20 degree amplitude. In each case we compared test saccades that matched the start position of the adapted saccade to those that matched the target of the adapted saccade. We found significantly more transfer of adaptation to test saccades with the same start position than to test saccades with the same target position. The results indicate that saccadic adaptation is specific to the initial eye position. This is consistent with a previously proposed effect of gain field modulated input from areas like the frontal eye field, the lateral intraparietal area and the superior colliculus into the cerebellar adaptation circuitry. PMID:27445762

  8. Bill malformations in double-crested cormorants with low exposure to organochlorines

    SciTech Connect

    Kuiken, T.; Fox, G.A.; Danesik, K.L.

    1999-12-01

    Eight of 20 newly hatched double-crested cormorants (Phalacrocorax auritus), captured at Dore Lake (Saskatchewan, Canada) and raised in captivity, developed malformed bills when they were 2 to 3 weeks old. Malformation was characterized by abnormal flexure and rotation of the maxilla and mandible, resulting in a crossed bill. By radiography, the premaxillary and dental bones were misshapen. Morphologically similar malformed bills in free-living comorants have been attributed to exposure to polyhalogenated aromatic hydrocarbons. However, the concentrations of total PCBs in the livers of these captive cormorants with malformed bills and in their diet were lower than have been previously associated with such malformations and were considered too low to have been the cause. The bill malformations may have been caused by deficiency of vitamin D{sub 3}, because the cormorants were kept indoors without exposure to ultraviolet light and were fed frozen fish that may have been deficient in this vitamin.

  9. What Happens After Treatment for Eye Cancer?

    MedlinePlus

    ... having eye cancer What happens after treatment for eye cancer? For many people with eye cancer, treatment ... manage them. Follow-up after treatment of uveal (eye) melanoma Your doctor will most likely want to ...

  10. What Is a Comprehensive Dilated Eye Exam?

    MedlinePlus

    ... su oculista What is a comprehensive dilated eye exam? You may think your eyes are healthy, but ... eye care professional for a comprehensive dilated eye exam is the only way to really be sure. ...

  11. Autism Spectrum Disorder and Chiari 1 Malformation Co-occurring in a Child.

    PubMed

    Osuagwu, Ferdnand C; Amalraj, Benedict; Noveloso, Bernard D; Aikoye, Salisu A; Bradley, Ronald

    2016-04-01

    Very few studies have shown associations between autism spectrum disorder, attention deficit hyperactivity disorder and Chiari 1 malformation. Here, we report an 10-year-old male that presented after having seizures with a history of Chiari 1 malformation, autism spectrum disorder and ADHD with moderate mental retardation and speech delay. This case highlights the fact that autism spectrum disorder as biologically based neurodevelopmental disorder with altered brain growth may be associated with Chiari 1 malformation and ADHD. PMID:27050897

  12. Umbilical cyst due to patent urachus in a fetus with complete urorectal septum malformation sequence

    PubMed Central

    Kodandapani, Sreelakshmi; Shetty, Jyothi; Kumar, Pratap; Girisha, Katta M.

    2012-01-01

    Urorectal septum malformation sequence is a sporadic malformation due to failure of septation of primitive cloaca with no anal opening. Umbilical cyst can be associated with chromosomal aneuploidy such as trisomy 18 or trisomy 13. We report on a fetus with complete urorectal septum malformation sequence with an umbilical cyst resulting from a patent urachus and with meconium as its content. This report adds to the variety of the causes of umbilical cyst and the spectrum of consequences of urorectal septal defect.

  13. Thoracolumbar spinal vascular malformation as a rare cause of isolated intraventricular hemorrhage.

    PubMed

    Marlin, Evan S; Entwistle, John J; Arnold, Michael A; Pierson, Christopher R; Governale, Lance S

    2014-07-01

    Spinal vascular malformations are rare vascular lesions that most frequently present with back pain, radiculopathy, and/or myelopathy. Neurological decline is typically secondary to progressive radiculopathy, myelopathy, venous thrombosis, and stroke. Few case reports have described thoracolumbar spinal vascular malformations that present with both subarachnoid and intraventricular hemorrhage. This is the first reported case of a thoracolumbar spinal vascular malformation presenting with isolated intraventricular hemorrhage on initial imaging followed by acute and fatal rehemorrhage. PMID:24784978

  14. Fistula of stapes footplate caused by pulsatile cerebrospinal fluid in inner ear malformation.

    PubMed

    Hoppe, F; Hagen, R; Hofmann, E

    1997-01-01

    Congenital malformations of the inner ear are well described, though the combination with cerebrospinal fluid (CSF) leaks remains controversial. In this paper a case of a bilateral Mondini malformation with a CSF otorrhea on one side is reported. The malformed stapes contains a perforation in the middle of the footplate and associated thinning analogous to a pothole in a mountain stream. The histological findings support the hypothesis of pulsatile flow of CSF as origin of the perforation of the footplate. PMID:9166882

  15. Klippel-Trénaunay Syndrome with Intracranial Arteriovenous Malformation: A Rare Presentation

    PubMed Central

    Sadiq, Mahniya F.; Tiwana, Muhammad H.; Johnson, Jamlik-Omari; Khosa, Faisal

    2014-01-01

    Klippel-Trénaunay syndrome (KTS) is a rare vascular congenital anomaly affecting less than 200,000 people in the United States. Vascular malformations associated with KTS tend to affect slow flow systems: venous, capillary, and lymphatic systems. The nature of the syndrome leads to a higher risk for the development of arteriovenous malformations. Our case presentation describes a patient with KTS and an associated rare presentation of intraventricular arteriovenous malformation (AVM). PMID:24653849

  16. [Conservative treatment of dry eye].

    PubMed

    Hefner, J; Reinshagen, H

    2014-11-01

    The use of topic anti-inflammatory drugs has become very important in the treatment of dry eye disease. Besides the basic therapy including tear replacement, use of serum eye drops and mucolytic eye drops, the topical application of corticosteroids and cyclosporin A is more commonly used in moderate to severe forms of dry eye disease. The consistent treatment of Meibomian gland dysfunction as a frequent reason for evaporative dry eye is also of particular importance. Understanding the chronicity of the disease and long-term compliance are the essential for successful therapy of this widespread disease. PMID:25275793

  17. Eye movement abnormalities.

    PubMed

    Moncayo, Jorge; Bogousslavsky, Julien

    2012-01-01

    Generation and control of eye movements requires the participation of the cortex, basal ganglia, cerebellum and brainstem. The signals of this complex neural network finally converge on the ocular motoneurons of the brainstem. Infarct or hemorrhage at any level of the oculomotor system (though more frequent in the brain-stem) may give rise to a broad spectrum of eye movement abnormalities (EMAs). Consequently, neurologists and particularly stroke neurologists are routinely confronted with EMAs, some of which may be overlooked in the acute stroke setting and others that, when recognized, may have a high localizing value. The most complex EMAs are due to midbrain stroke. Horizontal gaze disorders, some of them manifesting unusual patterns, may occur in pontine stroke. Distinct varieties of nystagmus occur in cerebellar and medullary stroke. This review summarizes the most representative EMAs from the supratentorial level to the brainstem. PMID:22377853

  18. Nutrition and the eye.

    PubMed

    Congdon, N G; West, K P

    1999-12-01

    The topic "nutrition and the eye" cannot adequately be covered in a single review article; indeed, dozens of books and hundreds of articles have been written on the subject. This review concentrates on three areas in which specific nutrients are known or theorized to have a major impact on vision and the visual system: vitamin A deficiency; antioxidants and their proposed role in the prevention of age-related cataract and macular degeneration; and nutritional optic neuropathies, including those of the recent Cuban epidemic. In addition, this article touches on nutritional treatments that have been suggested for several less common eye diseases and, finally, considers several less prevalent conditions in which deficiency of or excess exposure to a particular nutrient has been associated with ocular pathology. PMID:10662253

  19. [The eye and cancer].

    PubMed

    Schalenbourg, Ann; Mantel, Irmela

    2015-12-16

    Cancer involves so rarely the eye that it may be recognized late. The most frequent primary intra-ocular tumours are retinoblastoma in small children and uveal melanoma in adults. Vision loss in systemic cancer has a varied differential diagnosis. Uveal metastases are most often associated with breast cancer, but can herald lung carcinoma. Masquerade syndrome looks like inflammation but represents the ocular involvement of primary CNS non-Hodgkin lymphoma. Systemic cancer drugs, as well as radiotherapy, can cause ocular toxicity, mostly at the retina. In the rare paraneoplastic syndromes, patient's cancer antibodies cross-react with retinal antigens, leading to severe vision loss. When cancer involves the eye, a fast referral into specialized care can significantly improve visual and vital prognosis. PMID:26852556

  20. Trematode infection causes malformations and population effects in a declining New Zealand fish.

    PubMed

    Kelly, David W; Thomas, Harriet; Thieltges, David W; Poulin, Robert; Tompkins, Daniel M

    2010-03-01

    1. Animal malformations engender wide public and scientific concern because of associated environmental health risks. This is highlighted by increased incidence of limb malformations in amphibians associated with trematode infections and disturbance. Malformations may signal new emerging disease threats, but whether the phenomenon is broadly applicable across taxa, or has population-scale impacts, is unknown. 2. Malformations are widely reported in fish and, until now, have been attributed mainly to contaminants. We tested whether the trematode Telogaster opisthorchis caused severe malformations, leading to population effects, in Galaxias anomalus, a threatened New Zealand freshwater fish. 3. Experimental infection of larval fish caused increasing spinal malformation and mortality with infection intensity that closely matched field patterns. Field malformation frequency peaked in January (65%), before declining sharply in February (25%) and remaining low thereafter. 4. The peak occurred during a 'critical window' of larval development, with the decline coincident with a population crash, indicating that malformation was causing mortality in the field. 5. The occurrence of such critical developmental windows may explain why this mechanism of population impact has been overlooked. With global environmental stressors predicted to enhance trematode infections, our results show that parasite-induced malformation, and its population-scale impacts, could be more widespread than previously considered. PMID:19886894

  1. Major Congenital Malformations in Barbados: The Prevalence, the Pattern, and the Resulting Morbidity and Mortality

    PubMed Central

    Singh, Keerti; Krishnamurthy, Kandamaran; Greaves, Camille; Kandamaran, Latha; Nielsen, Anders L.; Kumar, Alok

    2014-01-01

    Objectives. To study the prevalence and the pattern of major congenital malformations and its contribution to the overall perinatal morbidity and mortality. Methods. It is a retrospective population based study. It includes all major congenital malformations in newborns during 1993-2012. The data was collected from the birth register, the neonatal admission register and the individual patient records at the Queen Elizabeth Hospital where over 90% of deliveries take place and it is the only facility for the care of sick newborns in this country. Results. The overall prevalence of major congenital malformations among the live births was 59/10,000 live births and that among the stillbirths was 399/10,000 stillbirths. Circulatory system was the most commonly affected and accounted for 20% of all the major congenital malformations. Individually, Down syndrome (4.1/10, 000 live births) was the commonest major congenital malformation. There was a significant increase in the overall prevalence during the study period. Major congenital malformations were responsible for 14% of all neonatal death. Conclusions. Less than 1% of all live newborns have major congenital malformations with a preponderance of the malformations of the circulatory system. Major congenital malformations contribute significantly to the overall neonatal morbidity and mortality in this country. PMID:25006483

  2. Pioneers of eye movement research

    PubMed Central

    Wade, Nicholas J

    2010-01-01

    Recent advances in the technology affording eye movement recordings carry the risk of neglecting past achievements. Without the assistance of this modern armoury, great strides were made in describing the ways the eyes move. For Aristotle the fundamental features of eye movements were binocular, and he described the combined functions of the eyes. This was later given support using simple procedures like placing a finger over the eyelid of the closed eye and culminated in Hering's law of equal innervation. However, the overriding concern in the 19th century was with eye position rather than eye movements. Appreciating discontinuities of eye movements arose from studies of vertigo. The characteristics of nystagmus were recorded before those of saccades and fixations. Eye movements during reading were described by Hering and by Lamare in 1879; both used similar techniques of listening to sounds made during contractions of the extraocular muscles. Photographic records of eye movements during reading were made by Dodge early in the 20th century, and this stimulated research using a wider array of patterns. In the mid-20th century attention shifted to the stability of the eyes during fixation, with the emphasis on involuntary movements. The contributions of pioneers from Aristotle to Yarbus are outlined. PMID:23396982

  3. Eye preferences in captive chimpanzees.

    PubMed

    Braccini, Stephanie N; Lambeth, Susan P; Schapiro, Steven J; Fitch, W Tecumseh

    2012-09-01

    Over the last century, the issue of brain lateralization in primates has been extensively investigated and debated, yet no previous study has reported eye preference in great apes. This study examined eye preference in 45 captive chimpanzees (Pan troglodytes) in response to various stimuli. Eye preference was assessed when animals looked through a hole that only accommodated one eye at an empty box, a mirror, a picture of a dog, a rubber snake, food biscuits, bananas, a rubber duck, and a video camera. Main effects of stimulus type were found for direction of eye preference, number of looks, and looking duration, but not for strength of eye preference. A left-eye bias was found for viewing the rubber snake and a right-eye bias was found for viewing the bananas, supporting theories that emotional valence may affect lateralized behaviors. In addition, a significant shift in eye preference took place from the initial look to subsequent looks when viewing the snake. These results are not consistent with previous reports of human eye preference and may reflect lateralization differences for emotional processing. No relationship between eye preference and previously recorded hand preference was found. PMID:22733385

  4. Michelangelo's eye disease.

    PubMed

    Gallenga, P E; Neri, Giampiero; D'Anastasio, Ruggero; Pettorrossi, Vito Enrico; Alfieri, Emilio; Capasso, Luigi

    2012-06-01

    Charged by the Pope Julius II for painting the Cappella Sistina in Rome (between 1508 and 1512), Michelangelo worked in an elevated scaffolding, in an anomalous position with dyes (including poisoning lead salts) and solvents (such as toxic turpentine) dripping on his face and continuously inhaling, in a dim environment illuminated only with oil lamps and candles, as he described himself and sketched in a sonet addressed to Giovanni da Pistoia. In 1510 he began suffering from eye disease: the main symptom was the necessity to elevate the document he was reading up to the level of his eyes. This defect disappeared few months after he finished painting his masterpiece. We hypothesize that the Michelangelo's eyes disease was a form of acquired and transitory nystagmus induced by the many hours he spent in up gaze, with a skew deviation, a form of ocular tilt reaction resulting from the impairment of spatial sensitivity (inversion illusion) due to the persistence of the artist's head in a horizontal position, looking upward. PMID:22425178

  5. Schizophrenia and the eye

    PubMed Central

    Silverstein, Steven M.; Rosen, Richard

    2015-01-01

    Although visual processing impairments are common in schizophrenia, it is not clear to what extent these originate in the eye vs. the brain. This review highlights potential contributions, from the retina and other structures of the eye, tovisual processing impairments in schizophrenia and high-risk states. A second goal is to evaluate the status of retinal abnormalities as biomarkers for schizophrenia. The review was motivated by known retinal changes in other disorders (e.g., Parkinson's disease, multiple sclerosis), and their relationships to perceptual and cognitive impairments, and disease progression therein. The evidence reviewed suggests two major conclusions. One is that there are multiple structural and functional disturbances of the eye in schizophrenia, all of which could be factors in the visual disturbances of patients. These include retinal venule widening, retinal nerve fiber layer thinning, dopaminergic abnormalities, abnormal ouput of retinal cells as measured by electroretinography (ERG), maculopathies and retinopathies, cataracts, poor acuity, and strabismus. Some of these are likely to be illness-related, whereas others may be due to medication or comorbid conditions. The second conclusion is that certain retinal findings can serve as biomarkers of neural pathology, and disease progression, in schizophrenia. The strongest evidence for this to date involves findings of widened retinal venules, thinning of the retinal nerve fiber layer, and abnormal ERG amplitudes. These data suggest that a greater understanding of the contribution of retinal and other ocular pathology to the visual and cognitive disturbances of schizophrenia is warranted, and that retinal changes have untapped clinical utility. PMID:26345525

  6. Christoph Scheiner's eye studies.

    PubMed

    Daxecker, F

    1992-01-01

    Christoph Scheiner was born in 1573 or 1575. In 1595 he entered into the Order of the Jesuits; he died in 1650. In 1619 his book Oculus, dealing with the optics of the eye, appeared in Innsbruck. The invention of the telescope was of utmost importance for progress in astronomical and physical research. Scheiner himself built telescopes and discovered the sunspots. As a result, an unpleasant priority dispute with Galilei ensued. From 1624 onwards, Scheiner was in Rome, where his main work Rosa Ursina was published in 1630. A part of this book deals with the physiological optics of the eye as well. Some of his discoveries and experiments are taken from these two books: determination of the radius of curvature of the cornea, discovery of the nasal exit of the optic nerve, increase in the radius of curvature of the lens in case of accommodation, Scheiner's procedure (double images with ametropia), refractive indices of various parts of the eye, Scheiner's experiment. Without any doubt, Christoph Scheiner belongs to the foremost scientists of the first half of the 17th century. PMID:1473465

  7. Syndrome of arachnodactyly, disturbance of cranial ossification, protruding eyes, feeding difficulties, and mental retardation

    SciTech Connect

    Kosztolanyi, G.; Weisenbach, J.; Mehes, K.

    1995-09-11

    We have evaluated an infant with a striking combination of craniofacial anomalies, arachnodactyly, and severe developmental failure. She died at the age of 5 months during a recurrent apneic episode. She also had protruding eyes, downward slant of palpebral fissures, short upturned nose, midface hypoplasia, micrognathia, extreme underdevelopment of the epiglottis, and severe feeding difficulties. The patient closely resembled four other previously reported patients. It is suggested that these five patients represent the same malformation syndrome, a well-recognizable separate entity. Our patient also had a pericentric inversion of chromosome 10; a possible association of this with the phenotype cannot be excluded. 7 refs., 1 fig., 1 tab.

  8. The Matrix Metalloproteinase 9 Point-of-Care Test in Dry Eye.

    PubMed

    Lanza, Nicole L; Valenzuela, Felipe; Perez, Victor L; Galor, Anat

    2016-04-01

    Dry eye is a common, multifactorial disease currently diagnosed by a combination of symptoms and signs. However, the subjective symptoms of dry eye poorly correlate to the current gold standard for diagnostic tests, reflecting the need to develop better objective tests for the diagnosis of dry eye. This review considers the role of ocular surface matrix metalloproteinase 9 (MMP-9) in dry eye and the implications of a novel point-of-care test that measures MMP-9 levels, InflammaDry (RPS, Sarasota, FL) on choosing appropriate therapeutic treatments. PMID:26850527

  9. Congenital multi-organ malformations in a Holstein calf.

    PubMed

    Hobbenaghi, Rahim; Dalir-Naghadeh, Bahram; Nazarizadeh, Ali

    2015-01-01

    A 5-day-old female Holstein calf was necropsied because of lethargy, recumbency and anorexia. At necropsy, multiple gross defects were evident in several organs, including unclosed sutures of skull bones, asymmetrical orbits, doming of the skull bones, hydrocephalus, hydranencephaly, cleft palate, brachygnathia, ventricular septal defect, mitral valve dysplasia and rudimentary lungs. On microscopic examination, pulmonary hypoplasia was characterized by reduced number of alveoli, replacement of peri-bronchiolar smooth muscles with connective tissue and small masses of undeveloped cartilage around the small airways. The present report is the first description of the congenital pulmonary hypoplasia accompanied by numerous malformations in Holstein breed. PMID:26893818

  10. Brain Arteriovenous Malformation Modeling, Pathogenesis and Novel Therapeutic Targets

    PubMed Central

    Chen, Wanqiu; Choi, Eun-Jung; McDougall, Cameron M.; Su, Hua

    2014-01-01

    Patients harboring brain arteriovenous malformation (bAVM) are at life-threatening risk of rupture and intracranial hemorrhage (ICH). The pathogenesis of bAVM has not been completely understood. Current treatment options are invasive and ≈ 20% of patients are not offered interventional therapy because of excessive treatment risk. There are no specific medical therapies to treat bAVMs. The lack of validated animal models has been an obstacle for testing hypotheses of bAVM pathogenesis and testing new therapies. In this review, we summarize bAVM model development; and bAVM pathogenesis and potential therapeutic targets that have been identified during model development. PMID:24723256

  11. The anterior interhemispheric approach to a third ventricular cavernous malformation.

    PubMed

    Martirosyan, Nikolay L; Kalani, M Yashar S; Nakaji, Peter; Spetzler, Robert F

    2016-01-01

    The anterior interhemispheric approach is a workhorse for treatment of lesions in the third ventricle. In this case, we demonstrate the utility of this approach for resecting a complex third ventricular cavernous malformation. We discuss patient positioning, optimal location of the craniotomy, and surgical resection techniques for safe removal of these lesions. We also demonstrate the importance of gravity retraction using the falx to prevent injury to the dominant frontal lobe. The video can be found here: https://youtu.be/38woc28er7M . PMID:26722693

  12. NREM Sleep Parasomnia Associated with Chiari I Malformation

    PubMed Central

    Daftary, Ameet S.; Walker, James M.; Farney, Robert J.

    2011-01-01

    Parasomnias are common sleep disorders in children, and most cases resolve naturally by adolescence.1 They represent arousal disorders beginning in NREM sleep and are generally non-concerning in children. The diagnosis can usually be made by clinical assessment, and testing with polysomnography is not routinely indicated.2 However, in certain cases with atypical features, polysomnography and more extensive neurologic evaluation are medically indicated. Citation: Daftary AS; Walker JM; Farney RJ. NREM Sleep Parasomnia associated with Chiari I malformation. J Clin Sleep Med 2011;7(5):526-529. PMID:22003350

  13. Malformations of cortical development: 3T magnetic resonance imaging features

    PubMed Central

    Battal, Bilal; Ince, Selami; Akgun, Veysel; Kocaoglu, Murat; Ozcan, Emrah; Tasar, Mustafa

    2015-01-01

    Malformation of cortical development (MCD) is a term representing an inhomogeneous group of central nervous system abnormalities, referring particularly to embriyological aspect as a consequence of any of the three developmental stages, i.e., cell proliferation, cell migration and cortical organization. These include cotical dysgenesis, microcephaly, polymicrogyria, schizencephaly, lissencephaly, hemimegalencephaly, heterotopia and focal cortical dysplasia. Since magnetic resonance imaging is the modality of choice that best identifies the structural anomalies of the brain cortex, we aimed to provide a mini review of MCD by using 3T magnetic resonance scanner images. PMID:26516429

  14. [The mother figure of children with malformations. A phenomenological study].

    PubMed

    Pinheiro, M C

    1997-01-01

    The theme of this research refers to children suffering congenital malformation through an analysis of their mothers' reactions in dealing with such a situation. It deals with a descriptive study along the qualitative line through the phenomenological approach. In order to attain that purpose, interviews were made and data collected. The analysis was built under the view of meaning, the orientation of those mothers, i.e. the outlook of the world from their perspective, which was tracked from the meanings (units of meaning) to actual sense based on the philosophical insight of Dr. Martin Heidegger, aiming at characterizing the mother-being in her daily life. PMID:9775933

  15. Vascular Integrity in the Pathogenesis of Brain Arteriovenous Malformation

    PubMed Central

    Zhang, Rui; Zhu, Wan

    2015-01-01

    Brain arteriovenous malformation (bAVM) is an important cause of intracranial hemorrhage (ICH), particularly in the young population. ICH is the first clinical symptom in about 50 % of bAVM patients. The vessels in bAVM are fragile and prone to rupture, causing bleeding into the brain. About 30 % of unruptured and non-hemorrhagic bAVMs demonstrate microscopic evidence of hemosiderin in the vascular wall. In bAVM mouse models, vascular mural cell coverage is reduced in the AVM lesion, accompanied by vascular leakage and microhemorrhage. In this review, we discuss possible signaling pathways involved in abnormal vascular development in bAVM. PMID:26463919

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

    PubMed Central

    Ekici, Mehmet Ali; Cıkla, Ulaş; Bauer, Andrew; Başkaya, Mustafa K.

    2015-01-01

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

  17. Congenital multi-organ malformations in a Holstein calf

    PubMed Central

    Hobbenaghi, Rahim; Dalir-Naghadeh, Bahram; Nazarizadeh, Ali

    2015-01-01

    A 5-day-old female Holstein calf was necropsied because of lethargy, recumbency and anorexia. At necropsy, multiple gross defects were evident in several organs, including unclosed sutures of skull bones, asymmetrical orbits, doming of the skull bones, hydrocephalus, hydranencephaly, cleft palate, brachygnathia, ventricular septal defect, mitral valve dysplasia and rudimentary lungs. On microscopic examination, pulmonary hypoplasia was characterized by reduced number of alveoli, replacement of peri-bronchiolar smooth muscles with connective tissue and small masses of undeveloped cartilage around the small airways. The present report is the first description of the congenital pulmonary hypoplasia accompanied by numerous malformations in Holstein breed. PMID:26893818

  18. Arteriovenous malformation of the penis in an infant.

    PubMed

    Go, S; Tokiwa, K; Imazu, M; Higuchi, K; Iwai, N

    2000-07-01

    Arteriovenous malformations (AVMs) are common benign lesions in infancy, although they are rare in the genitourinary region. The authors report on a 2-year-old boy with a penile AVM. At presentation, there was venous dilatation and tortuosity of the prepuce without ulceration, which had been recognized at 1 year of age. Left internal iliac arteriography showed early venous filling leading to the diagnosis of AVM. Surgical excision was performed at age 2. The postoperative course was uneventful. At the 6-month follow-up, there was no evidence of recurrence. This is the first report of a penile AVM that was successfully treated by surgical excision. PMID:10917314

  19. Delivery by cesarean section after embolization for vaginal arteriovenous malformation.

    PubMed

    Hasegawa, Toru; Yamakawa, Yoshihiro; Ota, Satoshi; Kamei, Tetsuya; Tateno, Masaya

    2008-01-01

    Vaginal arteriovenous malformation (AVM) can lead to life-threatening complications on delivery. No deliveries have been reported after selective embolization for a vaginal AVM. A 34-year-old nulliparous woman was found to have an arterial pulsatile mass on the left vaginal wall. The findings of magnetic resonance imaging and magnetic resonance angiography were consistent with an AVM. Selective transcatheter embolization for the AVM was done and, afterwards, the patient was found to be pregnant. The prenatal course was uneventful and the patient underwent elective cesarean delivery at term. Vaginal AVM can be successfully treated with selective embolization, with a good obstetric outcome. PMID:17671389

  20. Type I Chiari malformation presenting with laryngomalacia and dysphagia.

    PubMed

    Liu, Christopher; Ulualp, Seckin O

    2015-08-01

    We describe clinical features of an infant with laryngomalacia and dysphagia caused by type I Chiari malformation (CM-I). A 12-month-old child presented with a 6 month history of progressive stridor, dysphagia, and gastroesophageal reflux. Examination of the airway and swallowing function indicated mild laryngomalacia and aspiration with all consistencies. Magnetic resonance imaging of the brain indicated CM-I. Symptoms were resolved after posterior fossa decompression. CM-I, typically diagnosed later in life, should be considered in the differential diagnosis of laryngomalacia and dysphagia. High clinical suspicion and thorough search for abnormalities ensure early diagnosis and proper management of children with neurologic variant laryngomalacia. PMID:26031456

  1. Dlx5 Homeodomain:DNA Complex: Structure, Binding and Effect of Mutations Related to Split Hand and Foot Malformation Syndrome.

    PubMed

    Proudfoot, Andrew; Axelrod, Herbert L; Geralt, Michael; Fletterick, Robert J; Yumoto, Fumiaki; Deacon, Ashley M; Elsliger, Marc-André; Wilson, Ian A; Wüthrich, Kurt; Serrano, Pedro

    2016-03-27

    The Dlx5 homeodomain is a transcription factor related to the Drosophila distal-less gene that is associated with breast and lung cancer, lymphoma, Rett syndrome and osteoporosis in humans. Mutations in the DLX5 gene have been linked to deficiencies in craniofacial and limb development in higher eukaryotes, including split hand and foot malformation 1 in humans. Our characterization of a Dlx5 homeodomain:(CGACTAATTAGTCG)2 complex by NMR spectroscopy paved the way for determination of its crystal structure at 1.85Å resolution that enabled rationalization of the effects of disease-related mutations on the protein function. A Q186H mutation linked to split hand and foot malformation 1 likely affects affinity of DNA binding by disrupting water-mediated interactions with the DNA major groove. A more subtle effect is implicated for the Q178P mutation, which is not in direct contact with the DNA. Our data indicate that these mutations diminish the ability of the Dlx5 homeodomain to recognize and bind target DNAs, and they likely destabilize the formation of functional complexes. PMID:26829219

  2. How to administer eye drops and eye ointment.

    PubMed

    Shaw, Mary

    2016-05-25

    Rationale and key points Eye drops and eye ointment are the mainstay of treatment of ocular conditions. Failure to prioritise administration of these medicines can prolong the condition and may present a risk to the patient's vision. ▶ Eye drops and eye ointments are used to treat acute and chronic conditions of the eye and surrounding structures. Eye drops must be instilled before applying eye ointment, since the ointment will affect the absorption of the eye drop. ▶ Nurses require knowledge of the technique, side effects and potential interactions associated with systemically or topically applied medicines to the eye to ensure patient safety and optimum outcomes. Reflective activity Clinical skills articles can help update your practice and ensure it remains evidence based. Apply this article to your practice. Reflect on and write a short account of: 1. How this article will change your practice. 2. How you intend to develop your knowledge and skills regarding treatment of ocular conditions. Subscribers can update their reflective accounts at rcni.com/portfolio. PMID:27224628

  3. [Eye and the environment].

    PubMed

    Voide, Nathalie; Kaeser, Pierre-François; Behar-Cohen, Francine

    2015-12-16

    The eyes are exposed to multiple environmental factors, which affect visual development, comfort, and visual health. While overexposure to sunlight can cause ocular surface and retinal pathologies, insufficient exposure to daylight could significantly contribute to myopia progression. New artificial lights, namely LED, have a higher risk of retinal phototoxicity, and could alter ocular circadian rhythm. The significant increase of prevalence of ocular allergies could be caused by the proliferation of environmental polluting substances, like tobacco smoke, fuel combustion by-products, or phtalates, which are found in many types of plastics. Finally, some dietary supplements could play a protective role in certain types of ocular pathologies, namely retinal pathologies. PMID:26852551

  4. Lens of Eye Dosimetry

    SciTech Connect

    Mallett, Michael Wesley

    2015-03-23

    An analysis of LANL occupational dose measurements was made with respect to lens of eye dose (LOE), in particular, for plutonium workers. Table 1 shows the reported LOE as a ratio of the “deep” (photon only) and “deep+neutron” dose for routine monitored workers at LANL for the past ten years. The data compares the mean and range of these values for plutonium workers* and non-routine plutonium workers. All doses were reported based on measurements with the LANL Model 8823 TLD.

  5. ACR Appropriateness Criteria Clinically Suspected Pulmonary Arteriovenous Malformation.

    PubMed

    Hanley, Michael; Ahmed, Osmanuddin; Chandra, Ankur; Gage, Kenneth L; Gerhard-Herman, Marie D; Ginsburg, Michael; Gornik, Heather L; Johnson, Pamela T; Oliva, Isabel B; Ptak, Thomas; Steigner, Michael L; Strax, Richard; Rybicki, Frank J; Dill, Karin E

    2016-07-01

    Pulmonary arteriovenous malformations are often included in the differential diagnosis of common clinical presentations, including hypoxemia, hemoptysis, brain abscesses, and paradoxical stroke, as well as affecting 30% to 50% of patients with hereditary hemorrhagic telangiectasia (HHT). Various imaging studies are used in the diagnostic and screening settings, which have been reviewed by the ACR Appropriateness Criteria Vascular Imaging Panel. Pulmonary arteriovenous malformation screening in patients with HHT is commonly performed with transthoracic echocardiographic bubble study, followed by CT for positive cases. Although transthoracic echocardiographic bubble studies and radionuclide perfusion detect right-to-left shunts, they do not provide all of the information needed for treatment planning and may remain positive after embolization. Pulmonary angiography is appropriate for preintervention planning but not as an initial test. MR angiography has a potential role in younger patients with HHT who may require lifelong surveillance, despite lower spatial resolution compared with CT. The ACR Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed every three years by a multidisciplinary expert panel. The guideline development and review include an extensive analysis of current medical literature from peer-reviewed journals and the application of a well-established consensus methodology (modified Delphi) to rate the appropriateness of imaging and treatment procedures by the panel. In those instances in which evidence is lacking or not definitive, expert opinion may be used to recommend imaging or treatment. PMID:27209598

  6. Post-mortem cytogenomic investigations in patients with congenital malformations.

    PubMed

    Dias, Alexandre Torchio; Zanardo, Évelin Aline; Dutra, Roberta Lelis; Piazzon, Flavia Balbo; Novo-Filho, Gil Monteiro; Montenegro, Marilia Moreira; Nascimento, Amom Mendes; Rocha, Mariana; Madia, Fabricia Andreia Rosa; Costa, Thais Virgínia Moura Machado; Milani, Cintia; Schultz, Regina; Gonçalves, Fernanda Toledo; Fridman, Cintia; Yamamoto, Guilherme Lopes; Bertola, Débora Romeo; Kim, Chong Ae; Kulikowski, Leslie Domenici

    2016-08-01

    Congenital anomalies are the second highest cause of infant deaths, and, in most cases, diagnosis is a challenge. In this study, we characterize patterns of DNA copy number aberrations in different samples of post-mortem tissues from patients with congenital malformations. Twenty-eight patients undergoing autopsy were cytogenomically evaluated using several methods, specifically, Multiplex Ligation-dependent Probe Amplification (MLPA), microsatellite marker analysis with a MiniFiler kit, FISH, a cytogenomic array technique and bidirectional Sanger sequencing, which were performed on samples of different tissues (brain, heart, liver, skin and diaphragm) preserved in RNAlater, in formaldehyde or by paraffin-embedding. The results identified 13 patients with pathogenic copy number variations (CNVs). Of these, eight presented aneuploidies involving chromosomes 13, 18, 21, X and Y (two presented inter- and intra-tissue mosaicism). In addition, other abnormalities were found, including duplication of the TYMS gene (18p11.32); deletion of the CHL1 gene (3p26.3); deletion of the HIC1 gene (17p13.3); and deletion of the TOM1L2 gene (17p11.2). One patient had a pathogenic missense mutation of g.8535C>G (c.746C>G) in exon 7 of the FGFR3 gene consistent with Thanatophoric Dysplasia type I. Cytogenomic techniques were reliable for the analysis of autopsy material and allowed the identification of inter- and intra-tissue mosaicism and a better understanding of the pathogenesis of congenital malformations. PMID:27450648

  7. Cardiovascular malformations and organic solvent exposure during pregnancy in Finland

    SciTech Connect

    Tikkanen, J.; Heinonen, O.P.

    1988-01-01

    In order to investigate the possible association between cardiovascular malformations and maternal exposure to organic solvents during the first trimester of pregnancy, 569 cases and 1,052 controls were retrospectively studied. The cases represented all infants with diagnosed cardiovascular malformations born in Finland in 1982-1984, and the controls were randomly selected from all normal births in the country during the same period. All mothers were interviewed approximately 3 months after delivery by a midwife using a structured questionnaire. Exposures to organic solvents at work during the first trimester of pregnancy were slightly more prevalent among the mothers of affected infants (10.4%) than among those of controls (7.8%). Logistic regression analysis of exposure to organic solvents showed an adjusted relative odds ratio of 1.3 (95% confidence interval, 0.8-2.2). In the analysis of ventricular septal defect, exposure to organic solvents showed an adjusted relative odds ratio of 1.5 (95% confidence interval, 1.0-3.7).

  8. Automatic localization of cerebral cortical malformations using fractal analysis

    NASA Astrophysics Data System (ADS)

    De Luca, A.; Arrigoni, F.; Romaniello, R.; Triulzi, F. M.; Peruzzo, D.; Bertoldo, A.

    2016-08-01

    Malformations of cortical development (MCDs) encompass a variety of brain disorders affecting the normal development and organization of the brain cortex. The relatively low incidence and the extreme heterogeneity of these disorders hamper the application of classical group level approaches for the detection of lesions. Here, we present a geometrical descriptor for a voxel level analysis based on fractal geometry, then define two similarity measures to detect the lesions at single subject level. The pipeline was applied to 15 normal children and nine pediatric patients affected by MCDs following two criteria, maximum accuracy (WACC) and minimization of false positives (FPR), and proved that our lesion detection algorithm is able to detect and locate abnormalities of the brain cortex with high specificity (WACC  =  85%, FPR  =  96%), sensitivity (WACC  =  83%, FPR  =  63%) and accuracy (WACC  =  85%, FPR  =  90%). The combination of global and local features proves to be effective, making the algorithm suitable for the detection of both focal and diffused malformations. Compared to other existing algorithms, this method shows higher accuracy and sensitivity.

  9. Somatic Activating PIK3CA Mutations Cause Venous Malformation.

    PubMed

    Limaye, Nisha; Kangas, Jaakko; Mendola, Antonella; Godfraind, Catherine; Schlögel, Matthieu J; Helaers, Raphael; Eklund, Lauri; Boon, Laurence M; Vikkula, Miikka

    2015-12-01

    Somatic mutations in TEK, the gene encoding endothelial cell tyrosine kinase receptor TIE2, cause more than half of sporadically occurring unifocal venous malformations (VMs). Here, we report that somatic mutations in PIK3CA, the gene encoding the catalytic p110α subunit of PI3K, cause 54% (27 out of 50) of VMs with no detected TEK mutation. The hotspot mutations c.1624G>A, c.1633G>A, and c.3140A>G (p.Glu542Lys, p.Glu545Lys, and p.His1047Arg), frequent in PIK3CA-associated cancers, overgrowth syndromes, and lymphatic malformation (LM), account for >92% of individuals who carry mutations. Like VM-causative mutations in TEK, the PIK3CA mutations cause chronic activation of AKT, dysregulation of certain important angiogenic factors, and abnormal endothelial cell morphology when expressed in human umbilical vein endothelial cells (HUVECs). The p110α-specific inhibitor BYL719 restores all abnormal phenotypes tested, in PIK3CA- as well as TEK-mutant HUVECs, demonstrating that they operate via the same pathogenic pathways. Nevertheless, significant genotype-phenotype correlations in lesion localization and histology are observed between individuals with mutations in PIK3CA versus TEK, pointing to gene-specific effects. PMID:26637981

  10. Diencephalic–mesencephalic junction dysplasia: a novel recessive brain malformation

    PubMed Central

    Saleem, Sahar N.; Dobyns, William B.; Barkovich, A. James; Bartsch, Hauke; Dale, Anders M.; Ashtari, Manzar; Akizu, Naiara; Gleeson, Joseph G.; Grijalvo-Perez, Ana Maria

    2012-01-01

    We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic–mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic–mesencephalic junction with a characteristic ‘butterfly’-like contour of the midbrain on axial sections. Additional imaging features included variable degrees of supratentorial ventricular dilatation and hypoplasia to complete agenesis of the corpus callosum. Diffusion tensor imaging showed diffuse hypomyelination and lack of an identifiable corticospinal tract. All patients displayed severe cognitive impairment, post-natal progressive microcephaly, axial hypotonia, spastic quadriparesis and seizures. Autistic features were noted in older cases. Talipes equinovarus, non-obstructive cardiomyopathy and persistent hyperplastic primary vitreous were additional findings in two families. One of the patients required shunting for hydrocephalus; however, this yielded no change in ventricular size suggestive of dysplasia rather than obstruction. We propose the term ‘diencephalic–mesencephalic junction dysplasia’ to characterize this autosomal recessive malformation. PMID:22822038

  11. Clinical, Genetic and Environmental Factors Associated with Congenital Vertebral Malformations

    PubMed Central

    Giampietro, P.F.; Raggio, C.L.; Blank, R.D.; McCarty, C.; Broeckel, U.; Pickart, M.A.

    2013-01-01

    Congenital vertebral malformations (CVM) pose a significant health problem because they can be associated with spinal deformities, such as congenital scoliosis and kyphosis, in addition to various syndromes and other congenital malformations. Additional information remains to be learned regarding the natural history of congenital scoliosis and related health problems. Although significant progress has been made in understanding the process of somite formation, which gives rise to vertebral bodies, there is a wide gap in our understanding of how genetic factors contribute to CVM development. Maternal diabetes during pregnancy most commonly contributes to the occurrence of CVM, followed by other factors such as hypoxia and anticonvulsant medications. This review highlights several emerging clinical issues related to CVM, including pulmonary and orthopedic outcome in congenital scoliosis. Recent breakthroughs in genetics related to gene and environment interactions associated with CVM development are discussed. The Klippel-Feil syndrome which is associated with cervical segmentation abnormalities is illustrated as an example in which animal models, such as the zebrafish, can be utilized to provide functional evidence of pathogenicity of identified mutations. PMID:23653580

  12. Automatic localization of cerebral cortical malformations using fractal analysis.

    PubMed

    De Luca, A; Arrigoni, F; Romaniello, R; Triulzi, F M; Peruzzo, D; Bertoldo, A

    2016-08-21

    Malformations of cortical development (MCDs) encompass a variety of brain disorders affecting the normal development and organization of the brain cortex. The relatively low incidence and the extreme heterogeneity of these disorders hamper the application of classical group level approaches for the detection of lesions. Here, we present a geometrical descriptor for a voxel level analysis based on fractal geometry, then define two similarity measures to detect the lesions at single subject level. The pipeline was applied to 15 normal children and nine pediatric patients affected by MCDs following two criteria, maximum accuracy (WACC) and minimization of false positives (FPR), and proved that our lesion detection algorithm is able to detect and locate abnormalities of the brain cortex with high specificity (WACC  =  85%, FPR  =  96%), sensitivity (WACC  =  83%, FPR  =  63%) and accuracy (WACC  =  85%, FPR  =  90%). The combination of global and local features proves to be effective, making the algorithm suitable for the detection of both focal and diffused malformations. Compared to other existing algorithms, this method shows higher accuracy and sensitivity. PMID:27444964

  13. Cervicofacial Lymphatic Malformations: A Retrospective Review of 40 Cases

    PubMed Central

    Cho, Byung Chae; Kim, Jae Bong; Lee, Jeong Woo; Choi, Kang Young; Yang, Jung Dug; Lee, Seok-Jong; Kim, Yong-Sun; Lee, Jong Min; Huh, Seung

    2016-01-01

    Background Lymphatic malformation (LM) is a form of congenital vascular malformation with a low incidence. Although LM has been studied, no consensus has emerged regarding its cause or treatment. Methods In this study, we retrospectively evaluated 40 patients who visited our vascular anomalies center for the treatment of cervicofacial LM, which is a common manifestation of LM. The medical records of patients over a period of 12 years were reviewed and analyzed for commonalities regarding the diagnosis and the results of treatment. Results Suspected cervicofacial LM was confirmed through imaging studies. No difference in incidence was observed according to sex, and 73% of patients first presented with symptoms before the age of two years. The left side and the V2–V3 area were most commonly affected. No significant differences in incidence were observed among the macrocystic, microcystic, and combined types of LM. A total of 28 out of 36 patients received sclerotherapy as the first choice of treatment, regardless of the type of lesion. Complete resolution was achieved in only 25% of patients. Conclusions LM is important to confirm the diagnosis early and to choose an appropriate treatment strategy according to the stage of the disease and each individual patient's symptoms. When treatment is delayed or an incorrect treatment is administered, patient discomfort increases as the lesion gradually spreads. Therefore, more so than is the case for most other diseases, a team approach on a case-by-case basis is important for the accurate and appropriate treatment of LM. PMID:26848440

  14. Congenital pulmonary airway malformations: from prenatal diagnosis to postnatal outcome.

    PubMed

    Pelizzo, Gloria; Costanzo, Federico; Andreatta, Erika; Calcaterra, Valeria

    2016-08-01

    Congenital pulmonary airway malformations (CPAMs) include cystic and non-cystic lung lesions. These represent about 30-40% of developmental lung bud anomaly lesions mainly diagnosed during pregnancy or in newborn infants; or sometimes they remain undetected until adult life. The malformation usually presents as a sporadic, non-hereditary lung abnormality, with no predilection for the right or left lung, sex or race. CPAMs vary in their histological features, epidemiological and clinical presentation, severity and prognosis, supporting the embryologic hypothesis of arrested lung growth during branching morphogenesis. The existence of "hybrid" forms underline the possible common pathogenic mechanism involved in the development of different lesion types; a genetic role has also been proposed in abnormal lung development. Influence of the natural history on pre and postnatal management is relevant. Surgical resection is the standard of therapy for symptomatic CPAMs, while the management of asymptomatic cases remains controversial. The potential risk of infection and malignancy in CPAMs justifies complete surgical resection in the first year of life; while long term follow-up is required in children who do not undergo surgery. A multidisciplinary team including gynecologists, neonatologists, radiologists, pediatricians and pediatric surgeons is recommended in pre, postnatal management and in the postsurgical follow-up of all children with CPAMs. PMID:26365821

  15. Morphological and functional aspects of progenitors perturbed in cortical malformations

    PubMed Central

    Bizzotto, Sara; Francis, Fiona

    2015-01-01

    In this review, we discuss molecular and cellular mechanisms important for the function of neuronal progenitors during development, revealed by their perturbation in different cortical malformations. We focus on a class of neuronal progenitors, radial glial cells (RGCs), which are renowned for their unique morphological and behavioral characteristics, constituting a key element during the development of the mammalian cerebral cortex. We describe how the particular morphology of these cells is related to their roles in the orchestration of cortical development and their influence on other progenitor types and post-mitotic neurons. Important for disease mechanisms, we overview what is currently known about RGC cellular components, cytoskeletal mechanisms, signaling pathways and cell cycle characteristics, focusing on how defects lead to abnormal development and cortical malformation phenotypes. The multiple recent entry points from human genetics and animal models are contributing to our understanding of this important cell type. Combining data from phenotypes in the mouse reveals molecules which potentially act in common pathways. Going beyond this, we discuss future directions that may provide new data in this expanding area. PMID:25729350

  16. PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations

    PubMed Central

    Cigoli, Maria Sole; Avemaria, Francesca; De Benedetti, Stefano; Gesu, Giovanni P.; Accorsi, Lucio Giordano; Parmigiani, Stefano; Corona, Maria Franca; Capra, Valeria; Mosca, Andrea; Giovannini, Simona; Notturno, Francesca; Ciccocioppo, Fausta; Volpi, Lilia; Estienne, Margherita; De Michele, Giuseppe; Antenora, Antonella; Bilo, Leda; Tavoni, Antonietta; Zamponi, Nelia; Alfei, Enrico; Baranello, Giovanni; Riva, Daria; Penco, Silvana

    2014-01-01

    Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, intracerebral haemorrhages, and focal neurological deficits. Familial form shows an autosomal dominant pattern of inheritance with incomplete penetrance and variable clinical expression. Three genes have been identified causing familial CCM: KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3. Aim of this study is to report additional PDCD10/CCM3 families poorly described so far which account for 10-15% of hereditary cerebral cavernous malformations. Our group investigated 87 consecutive Italian affected individuals (i.e. positive Magnetic Resonance Imaging) with multiple/familial CCM through direct sequencing and Multiplex Ligation-Dependent Probe Amplification (MLPA) analysis. We identified mutations in over 97.7% of cases, and PDCD10/CCM3 accounts for 13.1%. PDCD10/CCM3 molecular screening revealed four already known mutations and four novel ones. The mutated patients show an earlier onset of clinical manifestations as compared to CCM1/CCM2 mutated patients. The study of further families carrying mutations in PDCD10/CCM3 may help define a possible correlation between genotype and phenotype; an accurate clinical follow up of the subjects would help define more precisely whether mutations in PDCD10/CCM3 lead to a characteristic phenotype. PMID:25354366

  17. Pathology of a lepromatous eye.

    PubMed

    Ebenezer, G J; Daniel, E

    2000-03-01

    Histopathological examination of an enucleated eye from a lepromatous leprosy patient showed the cornea, ciliary body, and part of the choroid to be infiltrated by macrophages filled with Mycobacterium leprae. The walls of blood vessels in the sclera, ciliary body and the anterior choroid demonstrated the presence of M. leprae, giving credence to the blood-borne entry of M. leprae into the eye. Unlike the eyes of experimental animals infected with M. leprae, histopathological study of this eye from a lepromatous leprosy patient demonstrated that M. leprae, although demonstrable in the anterior choroid, could not be found in the posterior parts of the eye, substantiating the claim that leprosy does not affect the posterior parts of the eye directly. PMID:10834066

  18. Leaping lopsided: a review of the current hypotheses regarding etiologies of limb malformations in frogs

    USGS Publications Warehouse

    Loeffler, I.K.; Stocum, D.L.; Fallon, J.F.; Meteyer, C.U.

    2001-01-01

    Recent progress in the investigation of limb malformations in free-living frogs has underlined the wide range in the types of limb malformations and the apparent spatiotemporal clustering of their occurrence. Here, we review the current understanding of normal and abnormal vertebrate limb development and regeneration and discuss some of the molecular events that may bring about limb malformation. Consideration of the differences between limb development and regeneration in amphibians has led us to the hypothesis that some of the observed limb malformations come about through misdirected regeneration. We report the results of a pilot study that supports this hypothesis. In this study, the distal aspect of the right hindlimb buds of X. laevis tadpoles was amputated at the pre-foot paddle stage. The tadpoles were raised in water from a pond in Minnesota at which 7% of surveyed newly metamorphosed feral frogs had malformations. Six percent (6 of 100) of the right limbs of the tadpoles raised in pond water developed abnormally. One truncated right limb was the only malformation in the control group, which was raised in dechlorinated municipal water. All unamputated limbs developed normally in both groups. Three major factors under consideration for effecting the limb malformations are discussed. These factors include environmental chemicals (primarily agrichemicals), encysted larvae (metacercariae) of trematode parasites, and increased levels of ultraviolet light. Emphasis is placed on the necessary intersection of environmental stressors and developmental events to bring about the specific malformations that are observed in free-living frog populations.

  19. Sirenomelia with upper limb malformation: a case report and review of the literature.

    PubMed

    Su, D; Yao, Q

    2015-01-01

    Sirenomelia sequence is a rare lethal pattern of congenital anomalies characterized by fusion of the legs and a variable combination of visceral abnormalities. Some cases accompanied with rare malformations have been reported. In this article, the authors report a case of sirenomelia with upper limb malformations and a review of the literature. PMID:26411229

  20. Fetal MRI as Complementary Study of Congenital Cystic Adenomatoid Malformation During Pregnancy: A Single Case Report

    PubMed Central

    Miranda-Paanakker, Alberto; Gomez-Leal, Paloma; Navarro-Sanchez, Patricia; Bueno-Crespo, Andres; Martinez-Cendan, Juan Pedro; Remezal-Solano, Manuel

    2016-01-01

    Fetal lung masses are rare findings in prenatal ultrasound scanning in general population, of which congenital cystic adenomatoid malformation is the most commonly diagnosed type. This paper reports a single case of congenital cystic adenomatoid malformation detected at our hospital and the subsequent clinical follow-up using ultrasound scanning and fetal magnetic resonance imaging. PMID:27186452