Database : MEDLINE
Search on : Septo-Optic and Dysplasia [Words]
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[PMID]: 29317570
[Au] Autor:Addenan M; May CM
[Ad] Address:University of Malaya Eye Research Centre, Department of Ophthalmology, University of Malaya Medical Centre, Kuala Lumpur, Malaysia. maf_add@yahoo.com.
[Ti] Title:Bilateral Exudative Retinal Detachment in Septo-Optic Dysplasia.
[So] Source:Indian Pediatr;54(12):1058-1059, 2017 12 15.
[Is] ISSN:0974-7559
[Cp] Country of publication:India
[La] Language:eng
[Pt] Publication type:LETTER
[Em] Entry month:1801
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:In-Process

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[PMID]: 29437724
[Au] Autor:Palui R; Sahoo JP; Kamalanathan S; Sridharan K
[Ad] Address:Department of Endocrinology, Jawaharlal Institute of Post Graduate Medical Education and Research, Pondicherry, India.
[Ti] Title:Nailing septo-optic dysplasia.
[So] Source:BMJ Case Rep;2018, 2018 Feb 07.
[Is] ISSN:1757-790X
[Cp] Country of publication:England
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180213
[Lr] Last revision date:180213
[St] Status:In-Data-Review

  3 / 425 MEDLINE  
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[PMID]: 29159066
[Au] Autor:AlKhateeb M; McLachlan R; Burneo J; Diosy D; Mirsattari S
[Ad] Address:Department of Neuroscience, London health science center, Western University, London, Ontario, Canada.
[Ti] Title:Six adult patients with septo-optic dysplasia and drug-resistant epilepsy: Clinical findings and course.
[So] Source:Epilepsy Behav Case Rep;8:73-84, 2017.
[Is] ISSN:2213-3232
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Septo-optic dysplasia (SOD) is a rare disorder associated with optic nerve hypoplasia, pituitary abnormalities and agenesis/dysgenesis of midline brain structures including the septum pellucidum and corpus callosum. Though sometimes associated with drug-resistant epilepsy, this association has not been well studied. We report six SOD patients with associated malformation of cortical development (MCD) and drug-resistant epilepsy who underwent video-EEG telemetry at our centre between 1998 and 2016 for drug-resistant epilepsy. ‬Three then underwent surgery; right temporal neocortical resection, right functional hemispherectomy and placement of a vagus nerve stimulator. Clinical findings and the patients' ultimate courses are discussed.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171123
[Lr] Last revision date:171123
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1016/j.ebcr.2017.04.001

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[PMID]: 29026269
[Au] Autor:Nagasaki K; Kubota T; Kobayashi H; Sawada H; Numakura C; Harada S; Takasawa K; Minamitani K; Ishii T; Okada S; Kamasaki H; Sugihara S; Adachi M; Tajima T
[Ad] Address:Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
[Ti] Title:Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan.
[So] Source:Clin Pediatr Endocrinol;26(4):207-213, 2017.
[Is] ISSN:0918-5739
[Cp] Country of publication:Japan
[La] Language:eng
[Ab] Abstract:Septo-optic dysplasia (SOD) is a congenital anomaly in which agenesis of the septum pellucidum and optic nerve hypoplasia are accompanied by hypopituitarism. Typically, the symptoms develop in 3 organs, the brain, eyes, and pituitary, and approximately one third of the patients present with all of the three cardinal features. The diagnostic criteria for SOD were established in Japan in 2015. The purpose of this study is to review clinical features regarding SOD patients with hypopituitarism in Japan. In this study, 21 patients with SOD were identified by a questionnaire survey for congenital central hypothyroidism. All 3 symptoms of SOD, agenesis of the septum pellucidum, optic nerve hypoplasia, and endocrine abnormalities, were noted in 8 of the 21 patients. Various combinations of pituitary hormone deficiencies were observed in patients with SOD, although SOD is a rare, heterogeneous, and phenotypically variable disorder, some patients develop hypoglycemia and convulsions after birth, and early intervention with hormone replacement is necessary in severe cases. In addition, 14 cases were complicated by both developmental delay and epilepsy, and 16 cases involved eye abnormalities. Therefore, in addition to an early endocrinological diagnosis and hormone replacement, consultation with both pediatric neurologists and pediatric ophthalmologists is necessary.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171017
[Lr] Last revision date:171017
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1297/cpe.26.207

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[PMID]: 28982953
[Au] Autor:Qian X; Fouzdar Jain S; Morgan LA; Kruse T; Cabrera M; Suh DW
[Ad] Address:College of Medicine, University of Nebraska Medical Center, Omaha, Nebraska, USA.
[Ti] Title:Neuroimaging and endocrine disorders in paediatric optic nerve hypoplasia.
[So] Source:Br J Ophthalmol;, 2017 Oct 05.
[Is] ISSN:1468-2079
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:PURPOSE: Optic nerve hypoplasia (ONH) is one of the leading causes of blindness among children. The purpose of this retrospective study is to determine the risk factors and association between brain MRI findings, pituitary abnormalities and endocrine disorders with the presence of ONH. METHODS: A retrospective review of patients seen at paediatric ophthalmology clinics from January 2006 to December 2016 at Children's Hospital and Medical Center and the University of Nebraska Medical Center was performed. All patients with a documented diagnosis of ONH or septo-optic dysplasia were identified. MRI and endocrinology results were analysed by masked examiners. RESULTS: Out of 77 patients, overall incidence of abnormal pituitary on MRI was 35.1% and the incidence of endocrine abnormalities was 37.7%. Of the 57 patients with bilateral ONH, 23 (40.4%) had an abnormal pituitary while 4 of the 20 patients (20.0%) with unilateral ONH had an abnormal pituitary on MRI. The sensitivity and specific of brain MRI as signs of endocrinopathy are 67.9% and 83.3%, respectively. CONCLUSION: This study has determined that abnormal MRI findings do not have the sensitivity to predict endocrinopathy, nor does a normal MRI rule out possible endocrine abnormalities. When patients with ONH present with normal neurological examinations, normal endocrine workup and normal developmental milestones, a MRI of the brain may be deferred until new indications arise.Regardless of the MRI status, children with ONH should have a comprehensive endocrine evaluation and continue to have routine endocrine follow-up.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171006
[Lr] Last revision date:171006
[St] Status:Publisher

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[PMID]: 28848142
[Au] Autor:Garcia-Filion P; Almarzouki H; Fink C; Geffner M; Nelson M; Borchert M
[Ad] Address:The Vision Center, Children's Hospital Los Angeles, Los Angeles, California, USA.
[Ti] Title:Brain Malformations Do Not Predict Hypopituitarism in Young Children with Optic Nerve Hypoplasia.
[So] Source:Horm Res Paediatr;88(3-4):251-257, 2017.
[Is] ISSN:1663-2826
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract:BACKGROUND: Optic nerve hypoplasia (ONH), a leading cause of pediatric blindness, is associated with brain malformations and hypopituitarism in the constellation known as septo-optic dysplasia. Neuroimaging is used to anticipate hypopituitarism, but with unconfirmed reliability. We report prospective findings on the association of hypopituitarism with brain malformations. METHODS: Children (<24 months) with ONH (n = 146; 87% bilateral) underwent baseline MRI and annual examinations and hormonal testing. Hypopituitarism status at age 5 years was classified. RESULTS: A total of 74% had brain malformation(s). Hypopituitarism (69%) was not associated with brain malformations (p = 0.351); this persisted after adjusting for the laterality of ONH and the timing of MRI (padj = 0.869). No association was noted for absent septum pellucidum (38%; p = 0.073), corpus callosum abnormality (51%; p = 0.625), and major malformations (22%; p = 0.407). A malformation conferred a positive predictive value of 71% (95% CI: 62%, 80%), and a negative predictive value of 37% (95% CI: 22%, 54%). Overall, 10% (n = 15) of the cohort presented with a triad of absent septum pellucidum, corpus callosum abnormality, and other major malformation; only half (n = 8) of these had hypopituitarism. All 13 subjects with pituitary malformations manifested hypopituitarism, conferring predictive values of 100% (positive) and 34% (negative). CONCLUSIONS: Hypopituitarism and brain malformations are highly prevalent, but have unrelated associations with ONH. Brain MRI in infants and toddlers with ONH is an unreliable screen for hypopituitarism risk.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1708
[Cu] Class update date: 171020
[Lr] Last revision date:171020
[St] Status:In-Process
[do] DOI:10.1159/000479029

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[PMID]: 28699050
[Au] Autor:Lohmüller R; Gangloff AS; Wenzel F; Lagrèze WA
[Ad] Address:Molekulare und Technische Medizin, Hochschule Furtwangen University, Furtwangen, Deutschland.
[Ti] Title:Optikushypoplasie und septooptische Dysplasie. [Optic nerve hypoplasia and septo-optic dysplasia].
[So] Source:Ophthalmologe;, 2017 Jul 11.
[Is] ISSN:1433-0423
[Cp] Country of publication:Germany
[La] Language:ger
[Ab] Abstract:Optic nerve hypoplasia (ONH) is one of the most common causes of congenital visual impairment. It was first described in 1915 and represents a developmental disorder of the central nervous system. It is often associated with intracranial midline defects and is then referred to as septo-optic dysplasia (SOD). The symptoms of ONH range from minimal visual dysfunction to significant visual impairment with sensory defect nystagmus and even blindness. The ONH is often associated with further systemic, endocrinological and neurological abnormalities requiring a close interdisciplinary treatment of the patients.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1707
[Cu] Class update date: 170815
[Lr] Last revision date:170815
[St] Status:Publisher
[do] DOI:10.1007/s00347-017-0535-6

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[PMID]: 28542028
[Au] Autor:Horton JC; Barkovich AJ
[Ad] Address:Departments of Ophthalmology, Neurology, and Physiology (JCH), Beckman Vision Center, University of California San Francisco, San Francisco, California; and Department of Radiology (AJB), University of California San Francisco, San Francisco, California.
[Ti] Title:Bilateral Optic Disc Pits With Posterior Pituitary Ectopia.
[So] Source:J Neuroophthalmol;37(4):401-402, 2017 Dec.
[Is] ISSN:1536-5166
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Posterior pituitary ectopia has been reported previously in association with optic nerve hypoplasia, as a variant of septo-optic dysplasia. We describe a 14-year-old boy with posterior pituitary ectopia and bilateral optic disc pits. He had hypopituitarism and a reduction in visual acuity to 20/40 in each eye, owing to loss of foveal ganglion cells. Optic pits and posterior pituitary ectopia may have occurred together in the same subject by chance, but the rarity of both conditions suggests a possible association.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1705
[Cu] Class update date: 171116
[Lr] Last revision date:171116
[St] Status:In-Process
[do] DOI:10.1097/WNO.0000000000000528

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[PMID]: 28482731
[Au] Autor:Alt C; Shevell MI; Poulin C; Rosenblatt B; Saint-Martin C; Srour M
[Ad] Address:1 McGill University, Montreal, Canada.
[Ti] Title:Clinical and Radiologic Spectrum of Septo-optic Dysplasia: Review of 17 Cases.
[So] Source:J Child Neurol;32(9):797-803, 2017 Aug.
[Is] ISSN:1708-8283
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:We retrospectively reviewed the clinical and radiologic characteristics of 17 individuals with septo-optic dysplasia (SOD) and attempted to identify correlations between imaging findings, clinical features, and neurodevelopmental outcome. Surprisingly, only 1 (6%) individual was classified as classic SOD (with septum pellucidum/corpus callosum dysgenesis), 3 (18%) as SOD-like (with normal septum pellucidum/corpus callosum) and the majority, 13 (76%), as SOD-plus (with cortical brain malformation). Cortical abnormalities included schizencephaly, polymicrogyria, and gray matter heterotopias. All individuals had optic nerve hypoplasia, 11 (65%) had endocrinologic deficits, and 13 (76%) had abnormal cerebral midlines. Seven individuals (41%) had all 3 features. Neurodevelopmental outcome was abnormal in 13 (78%), ranging from mild to severe developmental delay. Individuals with SOD-plus did not have more severe neurologic deficits than individuals with classic or SOD-like subgroups. Thus, SOD is clinically and radiologically heterogeneous, and cortical abnormalities are very common. Neurodevelopmental deficits are very prevalent, and of wide-ranging severity.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1705
[Cu] Class update date: 170718
[Lr] Last revision date:170718
[St] Status:In-Process
[do] DOI:10.1177/0883073817707300

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[PMID]: 28474147
[Au] Autor:Infante-Valenzuela A; Camara-Lemarroy CR; Reyes-Mondragon AL; Muñiz-Landeros CE; Villarreal-Velazquez HJ
[Ad] Address:Servicio de Neurologia, Hospital Universitario "Dr. José E. González", Universidad Autónoma de Nuevo León, Madero y Gonzalitos S/N, 64460, Monterrey, Nuevo León, Mexico.
[Ti] Title:Septo-optic dysplasia plus diagnosed in adulthood.
[So] Source:Neurol Sci;, 2017 May 04.
[Is] ISSN:1590-3478
[Cp] Country of publication:Italy
[La] Language:eng
[Pt] Publication type:LETTER
[Em] Entry month:1705
[Cu] Class update date: 170906
[Lr] Last revision date:170906
[St] Status:Publisher
[do] DOI:10.1007/s10072-017-2985-7


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