Database : MEDLINE
Search on : Blepharophimosis [Words]
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[PMID]: 29481440
[Au] Autor:Bouman A; van Haelst M; van Spaendonk R
[Ad] Address:Department of Clinical Genetics, Academic Medical Center.
[Ti] Title:Blepharophimosis-ptosis-epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element.
[So] Source:Clin Dysmorphol;27(2):58-62, 2018 Apr.
[Is] ISSN:1473-5717
[Cp] Country of publication:England
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Process
[do] DOI:10.1097/MCD.0000000000000216

  2 / 677 MEDLINE  
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[PMID]: 29315086
[Au] Autor:Henn A; Weng H; Novak S; Rettenberger G; Gerhardinger A; Rossier E; Zirn B
[Ad] Address:Genetic Counselling and Diagnostics, Genetikum Stuttgart, Stuttgart.
[Ti] Title:SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, frontonasal dysplasia, and conductive hearing loss.
[So] Source:Clin Dysmorphol;27(2):27-30, 2018 Apr.
[Is] ISSN:1473-5717
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Heterozygous microdeletions of chromosome 2p21 encompassing only the SIX2 gene have been described in two families to date. The clinical phenotype comprised autosomal-dominant inherited frontonasal dysplasia with ptosis in one family. In the second family, conductive hearing loss was the major clinical feature described; however, the affected persons also had ptosis. Here, we present a large family combining all three predescribed features of SIX2 gene deletion. The phenotype in four affected family members in three generations consisted of bilateral congenital ptosis, epicanthus inversus, frontonasal dysplasia with broad nasal bridge and hypertelorism, frontal bossing and large anterior fontanel in childhood, narrow ear canals, and mild conductive hearing loss with onset in childhood. Thus, the phenotypic spectrum of SIX2 haploinsufficiency is widened. Moreover, 2p21 microdeletions with SIX2 haploinsufficiency appear to lead to a recognizable phenotype with facial features resembling blepharophimosis-ptosis-epicanthus inversus syndrome.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180305
[Lr] Last revision date:180305
[St] Status:In-Process
[do] DOI:10.1097/MCD.0000000000000213

  3 / 677 MEDLINE  
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[PMID]: 29478779
[Au] Autor:Bashamboo A; Eozenou C; Jorgensen A; Bignon-Topalovic J; Siffroi JP; Hyon C; Tar A; Nagy P; Sólyom J; Halász Z; Paye-Jaouen A; Lambert S; Rodriguez-Buritica D; Bertalan R; Martinerie L; Rajpert-De Meyts E; Achermann JC; McElreavey K
[Ad] Address:Human Developmental Genetics, Institut Pasteur, Paris 75724, France.
[Ti] Title:Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.
[So] Source:Am J Hum Genet;102(3):487-493, 2018 Mar 01.
[Is] ISSN:1537-6605
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Emerging evidence from murine studies suggests that mammalian sex determination is the outcome of an imbalance between mutually antagonistic male and female regulatory networks that canalize development down one pathway while actively repressing the other. However, in contrast to testis formation, the gene regulatory pathways governing mammalian ovary development have remained elusive. We performed exome or Sanger sequencing on 79 46,XX SRY-negative individuals with either unexplained virilization or with testicular/ovotesticular disorders/differences of sex development (TDSD/OTDSD). We identified heterozygous frameshift mutations in NR2F2, encoding COUP-TF2, in three children. One carried a c.103_109delGGCGCCC (p.Gly35Argfs 75) mutation, while two others carried a c.97_103delCCGCCCG (p.Pro33Alafs 77) mutation. In two of three children the mutation was de novo. All three children presented with congenital heart disease (CHD), one child with congenital diaphragmatic hernia (CDH), and two children with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). The three children had androgen production, virilization of external genitalia, and biochemical or histological evidence of testicular tissue. We demonstrate a highly significant association between the NR2F2 loss-of-function mutations and this syndromic form of DSD (p = 2.44 × 10 ). We show that COUP-TF2 is highly abundant in a FOXL2-negative stromal cell population of the fetal human ovary. In contrast to the mouse, these data establish COUP-TF2 as a human "pro-ovary" and "anti-testis" sex-determining factor in female gonads. Furthermore, the data presented here provide additional evidence of the emerging importance of nuclear receptors in establishing human ovarian identity and indicate that nuclear receptors may have divergent functions in mouse and human biology.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180302
[Lr] Last revision date:180302
[St] Status:In-Data-Review

  4 / 677 MEDLINE  
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[PMID]: 29480260
[Au] Autor:Naik A; Patel A; Bothra N; Panda L; Naik MN; Rath S
[Ad] Address:Department of Ophthalmic Plastic Surgery Services, L. V. Prasad Eye Institute, Bhubaneswar, Odisha, India.
[Ti] Title:Endoscope-assisted harvest of autogenous fascia lata in frontalis suspension surgery: A minimally invasive approach revisited.
[So] Source:Indian J Ophthalmol;66(3):440-444, 2018 Mar.
[Is] ISSN:1998-3689
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract:Purpose: To report endoscope-assisted fascia lata harvest (EAFH) as a minimally-invasive technique for correction of severe blepharoptosis. Methods: This was a retrospective case series between January 2013 and April 2017. Medical records of all consecutive patients who underwent frontalis suspension by EAFH in the study period were reviewed and outcome was analyzed. Results: Fourteen patients (10 males) were included in the study. Mean age of the group was 18.14 + 17.03 years (range 4-65 years) and 11 patients had simple congenital blepharoptosis. Blepharophimosis syndrome was seen in 3 patients. Eleven patients had bilateral blepharoptosis. The mean preoperative and postoperative MRD1 was -1.60 ± 0.87 mm and +2.12 ± 1.37 mm respectively. Mean lengths of the incision and fascial harvest were 2.25 ± 0.43 cm and 13.0 ± 2.35 cm (range 10-17 cm) respectively. The median follow-up of patients was 4.57 + 4.03 months (range 1-15 months). Complications included a wound dehiscence in two patients and these were resutured. The donor sites healed well in all patients leaving a small thigh scar and none needed scar revision. Conclusion: EAFH is a promising minimally-invasive technique performed with a small incision and achieved adequate length of fascial harvest.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180226
[Lr] Last revision date:180226
[St] Status:In-Data-Review
[do] DOI:10.4103/ijo.IJO_819_17

  5 / 677 MEDLINE  
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[PMID]: 29480247
[Au] Autor:Surve A; Meel R; Pushker N; Bajaj MS
[Ad] Address:Dr. R. P. Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
[Ti] Title:Ultrasound biomicroscopy image patterns in normal upper eyelid and congenital ptosis in the Indian population.
[So] Source:Indian J Ophthalmol;66(3):383-388, 2018 Mar.
[Is] ISSN:1998-3689
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract:Purpose: To study the features of upper eyelid in healthy individual and different types of congenital ptosis in the Indian population using ultrasound biomicroscopy (UBM). Methods: This was a prospective observational study at a tertiary care center. Eyelid structure of healthy individuals with no eyelid abnormalities (n = 19); simple congenital ptosis (n = 33) cases; Marcus Gunn jaw-winking ptosis (MGJWP, n = 7) cases, and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES, n = 20) cases were studied on a vertical UBM scan using 50-MHz probe. Lid-thickness, tarsal-thickness, orbicularis oculi and levator-Muller-orbital septum-conjunctival (LMSC) complex were measured in primary gaze. Comparison was made between four groups and results were statistically analyzed using ANOVA test. In normal individuals, LMSC measurements were repeated in down-gaze imaging. Results: Skin with subcutaneous tissue, LMSC complex and pre-aponeurotic fat-pad appeared echodense while orbicularis oculi and tarsus appeared echolucent. In primary gaze, mean thickness (± standard deviation) of the eyelid, tarsus, orbicularis oculi and LMSC, respectively, were: 1.612 ± 0.205, 0.907 ± 0.098, 0.336 ± 0.083, and 0.785 ± 0.135 mm in normal individual. LMSC showed 46.64% increase in thickness on down-gaze. The mean eyelid thickness and LMSC were thicker in MGJWP and BPES as compared to normal. In different types of congenital ptosis cases, various patterns of UBM imaging were observed. Conclusion: UBM allows noninvasive imaging of eyelid structures with good anatomical correspondence in normal eyelids and study the structural alterations of eyelids in different types of congenital ptosis. UBM can be used to highlight the anatomical difference in normal eyelids that may help modify the surgery for better cosmetic outcomes. Furthermore, it has the potential to be used in preoperative evaluation and operative planning in certain types of acquired ptosis, which needs to be evaluated.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180226
[Lr] Last revision date:180226
[St] Status:In-Data-Review
[do] DOI:10.4103/ijo.IJO_915_17

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[PMID]: 29475819
[Au] Autor:Pascolini G; Agolini E; Majore S; Novelli A; Grammatico P; Digilio MC
[Ad] Address:Medical Genetics Laboratory, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy. Electronic address: giupascolini@gmail.com.
[Ti] Title:Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement.
[So] Source:Eur J Paediatr Neurol;, 2018 Feb 03.
[Is] ISSN:1532-2130
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:A recent syndromic condition with craniofacial dysmorphisms, comprising congenital ocular defect and neurodevelopmental delay named Helsmoortel-Van der Aa Syndrome (HVDAS) (OMIM#615873), has been described and molecularly defined, identifying pathogenic mutations in the ADNP gene (OMIM#611386) as biological cause. We report on two children, displaying intellectual disability (ID) and peculiar congenital eyes anomalies, both carrying a de novo nonsense mutation in the ADNP gene. The review of present and literature reports, suggests that the diagnosis of HVDAS should be suspected in patients with ID accompanied by behavioral features in the Autism Spectrum Disorder and distinctive craniofacial phenotype. Among dysmorphisms due to malformation of the periorbital region, ptosis appears to be particularly recurrent in HVDAS. Furthermore, the present patients could support the inclusion of the HVDAS associated with specific mutations clustering within a small ADNP genomic region among clinical conditions reminiscent of the blepharophimosis/mental retardation syndromes (BMRS).
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180224
[Lr] Last revision date:180224
[St] Status:Publisher

  7 / 677 MEDLINE  
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[PMID]: 29471425
[Au] Autor:Belli M; Iwata N; Nakamura T; Iwase A; Stupack D; Shimasaki S
[Ad] Address:Department of Reproductive Medicine, University of California San Diego, School of Medicine, La Jolla, CA.
[Ti] Title:FOXL2C134W-induced CYP19 expression via cooperation with SMAD3 in HGrC1 cells.
[So] Source:Endocrinology;, 2018 Feb 19.
[Is] ISSN:1945-7170
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Germline knockout studies in female mice demonstrated an essential role for FOXL2 in early follicle development, while an inducible granulosa cell (GC) specific deletion of Foxl2 in adults has shown ovary-to-testis somatic sex reprogramming. In women, over 120 different germline mutations in the FOXL2 gene have been shown to cause blepharophimosis/ptosis/epicantus inversus syndrome associated with or without primary ovarian insufficiency. By contrast, a single somatic mutation (FOXL2C134W) accounts for almost all adult-type GC tumors (aGCTs). To test the hypothesis that FOXL2C134W differentially regulates the expression of aGCT markers, we investigated the effect of FOXL2C134W on Inhibin B and P450 aromatase expression using a recently established human GC line (HGrC1), which we now show to bear two normal alleles of FOXL2. Neither FOXL2wt nor FOXL2C134W regulate INHBB mRNA expression. However, FOXL2C134W selectively displays a 50-fold induction of CYP19 mRNA expression dependent upon activin A. Mechanistically, the CYP19 promoter is activated in a similar way by FOXL2C134W interaction with SMAD3, but not by FOXL2wt. SMAD2 had no effect. Moreover, FOXL2C134W interactions with SMAD3 and with the FOX binding element located at -199 bp upstream of the ATG initiation codon of CYP19 are more sustainable than FOXL2wt. Thus, FOXL2C134W potentiates CYP19 expression in HGrC1 cells via enhanced recruitment of SMAD3 to a proximal FOX binding element. These findings may explain the pathophysiology of estrogen excess in patients with aGCT.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180222
[Lr] Last revision date:180222
[St] Status:Publisher
[do] DOI:10.1210/en.2017-03207

  8 / 677 MEDLINE  
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[PMID]: 29378527
[Au] Autor:Al-Qattan MM; Andejani DF; Sakati NA; Ramzan K; Imtiaz F
[Ad] Address:Department of Surgery, King Saud University, PO Box 18097, Riyadh, 11415, Saudi Arabia. moqattan@hotmail.com.
[Ti] Title:Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report.
[So] Source:BMC Med Genet;19(1):18, 2018 Jan 30.
[Is] ISSN:1471-2350
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Van Den Ende-Gupta Syndrome (VDEGS) is an extremely rare autosomal recessive syndrome with less than 20 reported families (approximately 40 patients) in the worldwide literature. CASE PRESENTATION: We have assessed one consanguineous Saudi family with typical features of VDEGS. Two siblings were affected with almost identical features; including blepharophimosis, arachnodactyly, flexion contractures of the elbows, camptodactyly, slender ribs, hooked lateral clavicular ends, and bilateral radial head dislocations. Both patients had several unusual features; including joint laxity, flat feet, recurrent patellar dislocations, and bilateral short distal ulnae. Full sequencing of SCARF2 revealed a homozygous mutation c.773G > A (p. Cys258Tyr) in both affected children. The parents (both with no abnormalities) were heterozygous for the same mutation. CONCLUSION: Joint laxity, recurrent patellar dislocations, and short distal ulnae should be included as part of the clinical spectrum of VDEGS.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180209
[Lr] Last revision date:180209
[St] Status:In-Data-Review
[do] DOI:10.1186/s12881-018-0531-y

  9 / 677 MEDLINE  
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[PMID]: 29339661
[Au] Autor:Li F; Chai P; Fan J; Wang X; Lu W; Li J; Ge S; Jia R; Zhang H; Fan X
[Ad] Address:Department of Ophthalmology, Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China.
[Ti] Title:A Novel FOXL2 Mutation Implying Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I.
[So] Source:Cell Physiol Biochem;45(1):203-211, 2018.
[Is] ISSN:1421-9778
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract:BACKGROUND/AIMS: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease caused by FOXL2 gene mutations, and it is clinically characterized by an eyelid malformation associated (type I) or not (type II) with premature ovarian failure (POF). Functional study of novel mutations is especially critical for female patients, as it may allow the prediction of infertility and early planning of an appropriate therapy. METHODS: A clinical and molecular genetic investigation was performed in all members of a Chinese family with BPES. Genomic DNA was extracted, and the FOXL2 coding region was sequenced. Subcellular localization was performed by confocal microscopy. Transactivation studies were performed by real-time PCR, dual luciferase reporter assays and electrophoretic mobility shift assays. RESULTS: A novel deletion mutation (C.634_641 del, CCCATGC) between the forkhead domain and the polyalanine domain was found, resulting in a frameshift mutation and a truncated protein. Functional studies showed a strong cytoplasmic mislocalization and abnormal transactivation activity, implying a type I kind mutation with a large chance of infertility. CONCLUSION: This study identifies that this mutation indicates the probability of developing into POF and shows the importance and necessity of early recognition of BPES type through mutation testing for female patients. Prompt personalized therapy and follow-up is of great clinical significance for female patients carrying this kind of mutation.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180208
[Lr] Last revision date:180208
[St] Status:In-Process
[do] DOI:10.1159/000486358

  10 / 677 MEDLINE  
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[PMID]: 29419871
[Au] Autor:Zhang Q; Ou J; Wang W; Feng T; Duan C; Li P; Lin C; Li H
[Ad] Address:Center of Reproduction and Genetics, Suzhou Municipal Hospital, Suzhou, Jiangsu 215002, China. Email: hongliszivf@163.com.
[Ti] Title:[Identification of de novo chromosomal structural abnormalities using whole genome sequencing].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;35(1):96-99, 2018 Feb 10.
[Is] ISSN:1003-9406
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract:OBJECTIVE To assess the value of whole genome sequencing for the identification of de novo structural chromosomal abnormalities. METHODS Whole genome sequencing was utilized to analyze a boy with a peripheral blood karyotype of 46,XY,ins(3)(q21p13p21). The patient manifested with ocular abnormalities including blepharophimosis and ptosis. RESULTS Whole genome sequencing suggested a fragmentation of chromosome 3 (from position 55 473 257 to 78 341 929) has been inserted into between 136 876 730 to 138 643 831, and the breakpoints have occurred in the intergenic region. Meanwhile, there was a deletion between 138 643 831 and 138 694 476. This region contains FOXL2, a pathogenic gene associated with blepharophimosis-ptosis-epicanthus inversus syndrome. CONCLUSION De novo structural chromosomal abnormalities may be caused by novel breakpoints or microdeletion flanking the deletion region. To confirm its pathogenic nature, a mutation needs to be assessed at both genetic and genomic levels, for which whole genome sequencing is a good option.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180208
[Lr] Last revision date:180208
[St] Status:In-Data-Review
[do] DOI:10.3760/cma.j.issn.1003-9406.2018.01.022


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