21,715 research outputs found
Chorioretinal coloboma and Joubert syndrome: a nonrandom association.
No full textIn 1969 MARIE JOUBERT described a syndrome characterized by episodic hyperpnea, abnormal eye movments, ataxia, and mental and motor retardation associated with cerebellar vermis agenesis. Additional patients were later reported. In 1980 Lindhout et a l . described a patient with Joubert syndrome with typical bilatera chorioretinal coloboma and hypothesized a nonrandom association. We report a nother patient with Joubert synd rome with the same ocular defect
Joubert Syndrome in Three Children in A Family: A Case Series
No full textAbstractHow to Cite This Article: Akhondian J, Ashrafzadeh F, Beiraghi Toosi M, MOazen N, Mohammadpoor T, Karimi R. Joubert Syndrome in Three Children in a family: A Case Series. Iran J Child Neurol. 2013 Winter: 7(1); 39-42. Joubert syndrome (JS) is a rare autosomal recessive central nervous system malformation characterized by hypoplasia of the cerebellar vermis,hypotonia and abnormal psychomotor development, along with altered respiratory pattern and various ophthalmologic features.Here, we describe three children with Joubert syndrome in a family that had almost similar presentations, including ataxia, developmental delay, mental retardation and ocular disorders.Prevalence of Joubert syndrome is about 1 in 100,000 live birth. It may be accompanied by other organs’ disorders. The molar tooth sign is pathognomonic for joubert syndrome that is ascertained by brain MRI. References1. Ahmed J, Ali US. Joubert syndrome with nephronophthisis in neurofibromatosis type 1. Saudi J Kidney Dis Transpl 2011;22(4):788-91.2. Singh P, Goraya JS, Saggar K, Ahluwalia A. A report of Joubert syndrome in an infant, with literature review. J Pediatr Neurosci 2011;6(1):44-7.3. Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orphanet J Rare Dis 2010;5:20.4. Malaki M, Nemati M, Shoaran M. Joubert syndrome presenting as unilateral dysplastic kidney, hypotonia, and respiratory problem. Saudi J Kidney Dis Transpl 201;23(2):325-9.5. Louie CM, Gleeson JG. Genetic basis of Joubert syndrome and related disorders of cerebellar development. Hum Mol Genet 2005; 15;14 Spec No. 2:R235-42.6. Gill H, Muthusamy B, Atan D, Williams C, Ellis M. Joubert syndrome presenting with motor delay and oculomotor apraxia. Case Rep Pediatr 2011;2011:262641.7. Duldulao NA, Lee S, Sun Z. Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion. Development 2009;136(23):4033-42.8. Parisi MA. Clinical and molecular features of Joubert syndrome and related disorders. Am J Med Genet C Semin Med Genet. 2009;15;151C(4):326-40.9. Castori M, Valente EM, Donati MA, Salvi S, Fazzi E, Procopio E, et al. NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. J Med Genet 2005;42(2):e9.10. Maria BL, Hoang KB, Tusa RJ, Mancuso AA, Hamed LM, Quisling RG, et al. “Joubert syndrome” revisited: key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol 1997;12(7):423–30.
Protecting Animals 36: Author Witi Ihimaera
No full textIn this very special episode of Knowing Animals I am joined by beloved New Zealand author Witi Ihimaera. Witi has written many books featuring nonhuman animals. He offers us a non-colonial lens through which to think about the human/nonhuman relationship
Joubert Syndrome with Variable Features: Presentation of Two Cases
No full textHow to Cite this Article: Barzegar M, Malaki M, Sadegi-Hokmabadi E. Joubert Syndrome with Variable Features: Presentation of Two Cases. Iran J Child Neurol. 2013 Spring;7(2):43-46. AbstractJoubert syndrome is a very rare disorder characterized by respiratory irregularities, nystagmus, hypotonia, and global developmental delay with abnormalities of cerebellum. We present two cases of this syndrome with different phenotypes. The first case was an 8-month-old girl with hypotonia, apnea, and mild developmental delay as well as retinal degeneration and unilateral renal cystic dysplasia. The second case was a 27-month-old boy who presented with episodes of hyperpnea, apnea, retinal dystrophy, and severe global developmental delay. Both patients had normal metabolic profile and prototype imaging of joubert syndrome including vermis agenesis and molar tooth sign. References1. Zamponi N, Rossi B, Messori A, Polonara G, Regnicolo L, Cardinali C. Joubert syndrome with associated corpus callosum agenesis. Eur J Paediatr Neurol 2002;6(1):63-6.2. Ishikawa T, Zhu BL, Li DR, Zhao D, Michiue T, Maeda H. An autopsy case of an infant with Joubert syndrome who died unexpectedly and a review of the literature. Forensic Sci Int 2008 Aug 6;179(2-3):e67-73.3. Joubert Syndrome Foundation, 2003. Available at http://www.joubertsyndrome.org. Accessed February 19, 2003.4. Joubert M, Eisenring JJ, Robb JP, Andermann F. Familialagenesis of the cerebellar vermis. A syndrome of episodichyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 1969 Sep;19(9):813-25. 5. Maria BL, Boltshauser E, Palmer SC, Tran TX. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol 1999 Sep;14(9):583-90; discussion 590-1.6. Badano JL, Mitsuma N, Beales PL, Katsanis N. The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet 2006;7:125-48. Review.7. Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB. Clinical nosologic and genetic aspects of Joubert and related syndromes. J Child Neurol 1999 Oct;14(10):660-6; discussion 669-72. Review.8. Doherty D, Glass IA, Siebert JR, Strouse PJ, Parisi MA, Shaw DW, et al. Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI. Prenat Diagn 2005 Jun;25(6):442-7. Review.9. Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orphanet J Rare Dis 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. Review.10. Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, et al. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndromerelated disorders. Am J Hum Genet 2007 Jul;81(1):104-13.11. Salomon R, Saunier S, Niaudet P. Nephronophthisis. Pediatr Nephrol 2009 Dec;24(12):2333-44.12. Ferland RJ, Eyaid W, Collura RV, Tully LD, Hill RS, Al-Nouri D, et al. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat Genet 2004 Sep;36(9):1008-13.13. Joubert M, Eisenring JJ, Andermann F. Familial dysgenesis of the vermis: a syndrome of hyperventilation, abnormal eye movements and retardation. Neurology 1968 Mar;18(3):302-3.14. Boltshauser E, Herdan M, Dumermuth G, Isler W. Joubertsyndrome: clinical and polygraphic observations in a further case. Neuropediatrics 1981 May;12(2):181-9
The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway.
No full textCiliopathies are a group of developmental disorders that manifest with multi-organ anomalies. Mutations in TMEM67 (MKS3) cause a range of human ciliopathies, including Meckel-Gruber and Joubert syndromes. In this study we describe multi-organ developmental abnormalities in the Tmem67(tm1Dgen/H1) knockout mouse that closely resemble those seen in Wnt5a and Ror2 knockout mice. These include pulmonary hypoplasia, ventricular septal defects, shortening of the body longitudinal axis, limb abnormalities, and cochlear hair cell stereociliary bundle orientation and basal body/kinocilium positioning defects. The basal body/kinocilium complex was often uncoupled from the hair bundle, suggesting aberrant basal body migration, although planar cell polarity and apical planar asymmetry in the organ of Corti were normal. TMEM67 (meckelin) is essential for phosphorylation of the non-canonical Wnt receptor ROR2 (receptor-tyrosine-kinase-like orphan receptor 2) upon stimulation with Wnt5a-conditioned medium. ROR2 also colocalises and interacts with TMEM67 at the ciliary transition zone. Additionally, the extracellular N-terminal domain of TMEM67 preferentially binds to Wnt5a in an in vitro binding assay. Cultured lungs of Tmem67 mutant mice failed to respond to stimulation of epithelial branching morphogenesis by Wnt5a. Wnt5a also inhibited both the Shh and canonical Wnt/β-catenin signalling pathways in wild-type embryonic lung. Pulmonary hypoplasia phenotypes, including loss of correct epithelial branching morphogenesis and cell polarity, were rescued by stimulating the non-canonical Wnt pathway downstream of the Wnt5a-TMEM67-ROR2 axis by activating RhoA. We propose that TMEM67 is a receptor that has a main role in non-canonical Wnt signalling, mediated by Wnt5a and ROR2, and normally represses Shh signalling. Downstream therapeutic targeting of the Wnt5a-TMEM67-ROR2 axis might, therefore, reduce or prevent pulmonary hypoplasia in ciliopathies and other congenital conditions
Figura lacrima
No full textHervé Joubert-Laurencin’s article 'Figura Lacrima', which explores Pasolini's figure of Christ, consists of two interconnected parts. The part called 'Lacrima' argues that Pasolini's Christ sheds a small tear which is analogous to the salvific tear of Dante's Bonconte da Montefeltro. This heretical tear is not explicitly referred to or shown but can only be perceived through the coherent text represented by the ensemble of Pasolini's films. The part called 'Figura' argues that Pasolini invents the new concept of 'figural integration', which extends beyond Erich Auerbach's analysis of medieval figural and typological interpretation and allows him to conceptualize a kind of non-dichotomous tension between the poles structuring his thought and art. Joubert-Laurencin argues thereby that Pasolini's scandal of Christ's small tear is not the simple provocation of a sinful Christ, but the utopian image of a West that frees itself from its own closure through the promise of another world, coming not from somewhere else but from the powers of an outside that it possesses within itself
Chorioretinal coloboma and Joubert syndrome. Replyto the Editor.
No full textThe table presented by Lindhout a n d Barthis obtained from an incomplete updating of the literature; recently eight more families with one or more a ffected members we re published. In addition , the denominator to be used to study the: clinical features is the number of patients in whom the findings reported, whereas for the analysis of the parental consanguinity and of the sibs affected the number of the families studied has to be considered
Dandy-Walker Malformation Masking the Molar Tooth Sign: An Illustrative Case With Magnetic Resonance Imaging Follow-up
No full textJoubert syndrome is a disorder characterized by ataxia, developmental delay, oculomotor anomalies, and breathing irregularities, with cerebellar vermian and midbrain dysgenesis. The molar tooth sign, reflecting the midbrain dysgenesis of Joubert syndrome, is the neuroradiological hallmark and is an essential sign in the identification of this condition. Variable vermian agenesis, an expanded fourth ventricle, and a large posterior cranial fossa with a normal brainstem are typical of Dandy-Walker malformation. The authors report a case in which a Dandy-Walker malformation coexisted with Joubert syndrome, but initially prevented the ''molar tooth sign'' from being recognized because of an important cystic dilatation of the fourth ventricle. In this article, they discuss the importance of the re-examination of brain magnetic resonance features after decompression of the posterior cranial fossa in a patient with Dandy-Walker malformation and additional clinical neurological or systemic abnormalities typical of Joubert syndrome, to not miss the correct diagnosis
I Think I Am Philip K. Dick
No full textFor years, noted writer Laurence A. Rickels often found himself compared to novelist Philip K. Dickthough in fact Rickels had never read any of the science fiction writers work. When he finally read his first Philip K. Dick novel, while researching for his recent book The Devil Notebooks , it prompted a prolonged immersion in Dicks writing as well as a recognition of Rickelss own long-documented intellectual pursuits. The result of this engagement is I Think I Am: Philip K. Dick , a profound thought experiment that charts the wide relevance of the pulp sci-fi author and paranoid visionary. I Think I Am: Philip K. Dick explores the science fiction authors meditations on psychic reality and psychosis, Christian mysticism, Eastern religion, and modern spiritualism. Covering all of Dicks science fiction, Rickels corrects the lack of scholarly interest in the legendary Californian author and, ultimately, makes a compelling case for the philosophical and psychoanalytic significance of Philip K. Dicks popular and influential science fiction.Intro -- Contents -- Introjection -- Part I -- Endopsychic Allegories -- Schreber Guardian -- Belief System Surveillance -- Part II -- Deeper Problems -- Veil of Tears -- Go West -- Dick Manfred -- Timing -- Glimmung -- Part III -- Spiritualism Analogy -- Imitating the Dead -- Indexical Layer -- Ilse -- Hammers and Things -- Crucifictions -- Over There -- Martyrology -- Can't Live, Can't Live -- Lola -- Umwelt, Mitwelt, and Eigenwelt -- Outer Race -- The German Introject -- Part IV -- Materialism, Idealism, and Cybernetics -- Startling Stories -- A Couple of Years -- Android Empathy -- Homunculus and Robot -- ALL OF YOU ARE DEAD. I AM ALIVE. -- Go with the Flow -- Part V -- Room for Thought -- Caduceus -- Jump -- Still -- A Wake -- Spätwerk -- Let the Dead Be -- Play Bally -- Das Hund -- Notes -- BibliographyFor years, noted writer Laurence A. Rickels often found himself compared to novelist Philip K. Dickthough in fact Rickels had never read any of the science fiction writers work. When he finally read his first Philip K. Dick novel, while researching for his recent book The Devil Notebooks , it prompted a prolonged immersion in Dicks writing as well as a recognition of Rickelss own long-documented intellectual pursuits. The result of this engagement is I Think I Am: Philip K. Dick , a profound thought experiment that charts the wide relevance of the pulp sci-fi author and paranoid visionary. I Think I Am: Philip K. Dick explores the science fiction authors meditations on psychic reality and psychosis, Christian mysticism, Eastern religion, and modern spiritualism. Covering all of Dicks science fiction, Rickels corrects the lack of scholarly interest in the legendary Californian author and, ultimately, makes a compelling case for the philosophical and psychoanalytic significance of Philip K. Dicks popular and influential science fiction.Description based on publisher supplied metadata and other sources.Electronic reproduction. Ann Arbor, Michigan : ProQuest Ebook Central, YYYY. Available via World Wide Web. Access may be limited to ProQuest Ebook Central affiliated libraries
Liftings for noncomplete probability spaces
No full textThe current state of knowledge concerning liftings for noncomplete probability spaces is discussed. This is a somewhat expanded version of the author's talk given at the 1991 Summer Conference on General Topology and Applications in Honor of Mary Ellen Rudin and Her Work.PT: S; CR: BURKE MR, IN PRESS P AM MATH S BURKE MR, 1991, ISRAEL J MATH, V73, P33 BURKE MR, 1992, ISRAEL J MATH, V79, P289 CARLSON T, THEOREM LIFTING CHRISTENSEN JPR, 1974, TOPOLOGY BOREL STRUC FREMLIN DH, 1989, HDB BOOLEAN ALGEBRAS, P877 INOESCUTULCEA A, 1966, 5TH P BERK S MATH ST, V2 IONESCUTULCEA A, 1967, CONTRIBUTIONS PROB 1, P63 IONESCUTULCEA A, 1969, TOPICS THEORY LIFTIN JECH TJ, 1978, SET THEORY JOHNSON RA, 1980, P AM MATH SOC, V80, P234 JUST W, IN PRESS T AM MATH S KUPKA J, 1983, INDIANA U MATH J, V32, P717 LOSERT V, 1983, LNM, V1080, P95 MAHARAM D, 1958, P AM MATH SOC, V9, P987 SHELAH S, 1983, ISRAEL J MATH, V45, P90 TALAGRAND M, 1982, P AM MATH SOC, V84, P379 VONNEUMANN J, 1931, CRELLES J MATH, V165, P109; NR: 18; TC: 0; J9: ANN N Y ACAD SCI; PG: 4; GA: BZ86BSource type: Electronic(1
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