Database : MEDLINE
Search on : Sjogren-Larsson and Syndrome [Words]
References found : 355 [refine]
Displaying: 1 .. 10   in format [Detailed]

page 1 of 36 go to page                         

  1 / 355 MEDLINE  
              next record last record
select
to print
Photocopy
Full text

[PMID]: 29183715
[Au] Autor:Kariminejad A; Barzgar M; Bozorgmehr B; Keshavarz E; Kariminejad MH; S'Aulis D; Rizzo WB
[Ad] Address:Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran. Electronic address: arianakariminejad@yahoo.com.
[Ti] Title:Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran.
[So] Source:Eur J Med Genet;61(3):139-144, 2018 Mar.
[Is] ISSN:1878-0849
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by ichthyosis, spasticity and intellectual disability. The disease is caused by mutations in the ALDH3A2 gene that encodes fatty aldehyde dehydrogenase. We describe 7 Iranian SLS patients from 5 unrelated consanguineous families. Sequencing of ALDH3A2 identified 4 novel mutations, including a 26-bp deletion (c.25_50del), small in-frame deletion (c.370_372del; p.G124del), a termination (p.Q35Ter) and a missense mutation (p.Lys211Glu). Bacterial expression of the p.Lys211Glu and p.G124del mutations showed little or no detectable enzyme activity. Three of the patients exhibited an unusual neuro-regressive clinical course associated with seizures, which may reflect the presence of unidentified genetic or environmental modifiers in this consanguineous population. This cohort represents the largest group of Iranian patients with molecularly confirmed SLS and expands the mutational and clinical spectrum of this disease.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 180207
[Lr] Last revision date:180207
[St] Status:In-Process

  2 / 355 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy

[PMID]: 29360893
[Au] Autor:Poojary S; Shah M
[Ad] Address:Department of Dermatology, Venereology, and Leprology, K.J. Somaiya Medical College, Everard Nagar, Sion, Chunabhatti, Mumbai, India.
[Ti] Title:Sjögren-Larsson syndrome: definitive diagnosis on magnetic resonance spectroscopy.
[So] Source:Cutis;100(6):452-455, 2017 Dec.
[Is] ISSN:2326-6929
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Sjögren-Larsson syndrome (SLS) is a rare autosomal-recessive neurocutaneous disorder comprising a triad of ichthyosis, mental retardation, and spastic diplegia or quadriplegia. It has rarely been reported in Asian and Indian populations. We report the case of an Indian patient with SLS who presented with the classical clinical triad and demonstrated characteristic findings on magnetic resonance spectroscopy. In resource-restricted settings where enzymatic and genetic analyses are not available, magnetic resonance spectroscopy serves as a useful adjunct in confirming the diagnosis of SLS.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180123
[Lr] Last revision date:180123
[St] Status:In-Process

  3 / 355 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29071827
[Au] Autor:Kim JY; Kim SH; Park MJ; Kim SH; Cho WH; Choi J; Ki CS; You SJ
[Ad] Address:Department of Pediatrics, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea.
[Ti] Title:Identification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sjögren-Larsson Syndrome.
[So] Source:Ann Lab Med;38(1):80-82, 2018 Jan.
[Is] ISSN:2234-3814
[Cp] Country of publication:Korea (South)
[La] Language:eng
[Pt] Publication type:CASE REPORTS; LETTER
[Em] Entry month:1710
[Cu] Class update date: 180101
[Lr] Last revision date:180101
[St] Status:In-Data-Review
[do] DOI:10.3343/alm.2018.38.1.80

  4 / 355 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy

[PMID]: 28471629
[Au] Autor:Shamriz O; Molho-Pessach V; Shaag A; Daum H; Stepensky P
[Ad] Address:Pediatric Division, Hadassah-Hebrew University Medical Center, Ein Kerem Campus, Jerusalem, Israel.
[Ti] Title:Coexistence of Two Rare Autosomal Recessive Disorders: Activation-Induced Cytidine Deaminase Deficiency and Sjogren-Larsson Syndrome.
[So] Source:Isr Med Assoc J;18(10):636-638, 2016 Oct.
[Is] ISSN:1565-1088
[Cp] Country of publication:Israel
[La] Language:eng
[Mh] MeSH terms primary: Cytidine Deaminase/genetics
Hyper-IgM Immunodeficiency Syndrome/diagnosis
Sjogren-Larsson Syndrome/diagnosis
[Mh] MeSH terms secundary: Child
Humans
Hyper-IgM Immunodeficiency Syndrome/genetics
Male
Mutation
Siblings
Sjogren-Larsson Syndrome/genetics
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:EC 3.5.4.- (AICDA (activation-induced cytidine deaminase)); EC 3.5.4.5 (Cytidine Deaminase)
[Em] Entry month:1711
[Cu] Class update date: 171128
[Lr] Last revision date:171128
[Js] Journal subset:IM
[Da] Date of entry for processing:170505
[St] Status:MEDLINE

  5 / 355 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 28915122
[Au] Autor:Staps P; Hogeveen M; Fuijkschot J; van Drongelen J; Willemsen MAAP
[Ad] Address:.
[Ti] Title:Understanding fetal factors that contribute to preterm birth: Sjögren-Larsson syndrome as a model.
[So] Source:J Perinat Med;, 2017 Sep 15.
[Is] ISSN:1619-3997
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:AIM: Preterm birth is the world's leading cause of neonatal death. Unfortunately, the pathophysiology of preterm birth remains poorly understood. Sjögren-Larsson syndrome is a rare, neurometabolic disorder caused by a fatty aldehyde dehydrogenase deficiency. A majority of patients with Sjögren-Larsson syndrome is born preterm. METHODS: Data of all known Dutch patients with Sjögren-Larsson syndrome and all cases reported in literature were analyzed to learn from preterm birth in context of this rare disease. RESULTS: Exact gestational age was known in 33 Dutch patients; 24 (73%) of them were born preterm, with a median gestational age of 36 weeks. The literature search confirmed our findings: 13 (59%) of 22 cases was born preterm. CONCLUSIONS: Preterm birth is a hallmark of Sjögren-Larsson syndrome, presumably caused by the abnormal lipid metabolism of the fetus. At least five additional rare genetic disorders (namely Ehlers-Danlos syndrome, ichthyosis prematurity syndrome, congenital analbuminemia, osteogenesis imperfecta type II and restrictive dermopathy) were found in literature that lead to preterm birth of the affected fetus. These disorders are in fact "experiments of nature" and as such they shed new lights on the mechanisms causing preterm birth.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1709
[Cu] Class update date: 170915
[Lr] Last revision date:170915
[St] Status:Publisher

  6 / 355 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 28543186
[Au] Autor:Cho KH; Shim SH; Kim M
[Ad] Address:Department of Rehabilitation Medicine, CHA Bundang Medical Center, CHA University, Seongnam, Korea.
[Ti] Title:Clinical, biochemical, and genetic aspects of Sjögren-Larsson syndrome.
[So] Source:Clin Genet;, 2017 May 23.
[Is] ISSN:1399-0004
[Cp] Country of publication:Denmark
[La] Language:eng
[Ab] Abstract:Sjögren-Larsson syndrome (SLS) is caused by an autosomal recessive mutation in ALDH3A2, which encodes the fatty aldehyde dehydrogenase responsible for the metabolism of long-chain aliphatic aldehydes and alcohols. The pathophysiologic accumulation of aldehydes in various organs, including the skin, brain, and eyes, leads to characteristic features of ichthyosis, intellectual disability, spastic di-/quadriplegia, and low visual acuity with photophobia. The severity of the clinical manifestations thereof can vary greatly, although most patients are bound to a wheelchair due to contractures. To date, correlations between genotype and phenotype have proven difficult to document due to low disease incidence and high heterogenetic variability in mutations. This review summarizes the clinical characteristics of SLS that have been found to contribute to the prognosis thereof, as well as recent updates from genetic and brain imaging studies. In addition, the differential diagnoses of SLS are briefly illustrated, covering cerebral palsy and other genetic or neurocutaneous syndromes mimicking the syndrome.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1705
[Cu] Class update date: 170918
[Lr] Last revision date:170918
[St] Status:Publisher
[do] DOI:10.1111/cge.13058

  7 / 355 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 28410621
[Au] Autor:García-Peris E; Latour-Álvarez I; Pestana-Eliche M; Sánchez R
[Ad] Address:Department of Dermatology, Hospital Universitario de Canarias, Tenerife, Spain. Electronic address: estelagperis@gmail.com.
[Ti] Title:Expanding the Genotype of Sjögren-Larsson Syndrome: A New Case Due to Two Novel Mutations.
[So] Source:Actas Dermosifiliogr;108(6):601-603, 2017 Jul - Aug.
[Is] ISSN:1578-2190
[Cp] Country of publication:Spain
[La] Language:eng; spa
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1704
[Cu] Class update date: 170702
[Lr] Last revision date:170702
[St] Status:In-Data-Review

  8 / 355 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 28301413
[Au] Autor:Nanda T; Kovach JL
[Ad] Address:*Harkness Eye Institute, Columbia University Medical Center; and †Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Naples, Florida.
[Ti] Title:OPHTHALMIC FINDINGS IN LATE STAGE SJOGREN-LARSSON SYNDROME.
[So] Source:Retin Cases Brief Rep;, 2017 Mar 15.
[Is] ISSN:1937-1578
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:PURPOSE: To report spectral domain optical coherence tomography and fundus autofluorescence documentation of late stage macular findings associated with Sjogren-Larsson Syndrome in three adult siblings. METHODS: Three adult siblings with Sjogren-Larsson Syndrome underwent ophthalmic examination and imaging. RESULTS: Crystalline maculopathy and subretinal deposits, presumably lipofuscin accumulation, with macular atrophy were present in varying degrees in all three adult siblings. DISCUSSION: In adults with Sjogren-Larsson Syndrome, crystalline retinopathy can progress to macular atrophy and the appearance of lipofuscin accumulation.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1703
[Cu] Class update date: 170403
[Lr] Last revision date:170403
[St] Status:Publisher
[do] DOI:10.1097/ICB.0000000000000583

  9 / 355 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 28257279
[Au] Autor:Hidalgo ET; Orillac C; Hersh A; Harter DH; Rizzo WB; Weiner HL
[Ad] Address:1 Division of Pediatric Neurosurgery, Department of Neurosurgery, NYU Langone Medical Center, NY, USA.
[Ti] Title:Intrathecal Baclofen Therapy for the Treatment of Spasticity in Sjögren-Larsson Syndrome.
[So] Source:J Child Neurol;32(1):100-103, 2017 Jan.
[Is] ISSN:1708-8283
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Intrathecal baclofen therapy is widely accepted as a treatment option for patients with severe spasticity. The current treatment of spasticity in patients with Sjögren-Larsson syndrome is largely symptomatic, given that no effective causal therapy treatments are available. We report the outcome of 2 patients with Sjögren-Larsson syndrome who had pump implantation for intrathecal baclofen. We observed a positive response, with a decrease of spasticity, reflecting in the Modified Ashworth Scale, and parents and caregivers observed a functional improvement in both patients. One patient experienced skin irritation 15 months after surgery, necessitating pump repositioning. No infection occurred. Our report shows that intrathecal baclofen therapy can have a positive therapeutic effect on spasticity in patients with Sjögren-Larsson syndrome, and therefore may be a promising addition to current treatments.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1703
[Cu] Class update date: 170308
[Lr] Last revision date:170308
[St] Status:In-Process
[do] DOI:10.1177/0883073816671440

  10 / 355 MEDLINE  
              first record previous record
select
to print
Photocopy
Full text

[PMID]: 28025403
[Au] Autor:Nagappa M; Bindu PS; Chiplunkar S; Gupta N; Sinha S; Mathuranath PS; Bharath RD; Taly AB
[Ad] Address:From the Departments of Neurology (M.N., P.S.B., N.G., S.S., P.S.M., A.B.T.), Clinical Neurosciences (S.C.), and Neuro-Imaging and Interventional Radiology (R.D.B.), National Institute of Mental Health and Neurosciences, Bangalore, India.
[Ti] Title:Child Neurology: Sjögren-Larsson syndrome.
[So] Source:Neurology;88(1):e1-e4, 2017 Jan 03.
[Is] ISSN:1526-632X
[Cp] Country of publication:United States
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1612
[Cu] Class update date: 161228
[Lr] Last revision date:161228
[St] Status:In-Data-Review
[do] DOI:10.1212/WNL.0000000000003456


page 1 of 36 go to page                         
   


Refine the search
  Database : MEDLINE Advanced form   

    Search in field  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/PAHO/WHO - Latin American and Caribbean Center on Health Sciences Information