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Pesquisa : C16.320.850.180 [Categoria DeCS]
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[PMID]:29100093
[Au] Autor:Ehmke N; Graul-Neumann L; Smorag L; Koenig R; Segebrecht L; Magoulas P; Scaglia F; Kilic E; Hennig AF; Adolphs N; Saha N; Fauler B; Kalscheuer VM; Hennig F; Altmüller J; Netzer C; Thiele H; Nürnberg P; Yigit G; Jäger M; Hecht J; Krüger U; Mielke T; Krawitz PM; Horn D; Schuelke M; Mundlos S; Bacino CA; Bonnen PE; Wollnik B; Fischer-Zirnsak B; Kornak U
[Ad] Endereço:Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin Institute of Health, 10117 Berlin, Germany; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany. Electronic address: nadja.ehmke@charite.de.
[Ti] Título:De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
[So] Source:Am J Hum Genet;101(5):833-843, 2017 Nov 02.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Gorlin-Chaudhry-Moss syndrome (GCMS) is a dysmorphic syndrome characterized by coronal craniosynostosis and severe midface hypoplasia, body and facial hypertrichosis, microphthalmia, short stature, and short distal phalanges. Variable lipoatrophy and cutis laxa are the basis for a progeroid appearance. Using exome and genome sequencing, we identified the recurrent de novo mutations c.650G>A (p.Arg217His) and c.649C>T (p.Arg217Cys) in SLC25A24 in five unrelated girls diagnosed with GCMS. Two of the girls had pronounced neonatal progeroid features and were initially diagnosed with Wiedemann-Rautenstrauch syndrome. SLC25A24 encodes a mitochondrial inner membrane ATP-Mg/P carrier. In fibroblasts from affected individuals, the mutated SLC25A24 showed normal stability. In contrast to control cells, the probands' cells showed mitochondrial swelling, which was exacerbated upon treatment with hydrogen peroxide (H O ). The same effect was observed after overexpression of the mutant cDNA. Under normal culture conditions, the mitochondrial membrane potential of the probands' fibroblasts was intact, whereas ATP content in the mitochondrial matrix was lower than that in control cells. However, upon H O exposure, the membrane potential was significantly elevated in cells harboring the mutated SLC25A24. No reduction of mitochondrial DNA copy number was observed. These findings demonstrate that mitochondrial dysfunction with increased sensitivity to oxidative stress is due to the SLC25A24 mutations. Our results suggest that the SLC25A24 mutations induce a gain of pathological function and link mitochondrial ATP-Mg/P transport to the development of skeletal and connective tissue.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/genética
Antiporters/genética
Proteínas de Ligação ao Cálcio/genética
Anormalidades Craniofaciais/genética
Craniossinostoses/genética
Permeabilidade do Canal Arterial/genética
Hipertricose/genética
Mitocôndrias/genética
Proteínas Mitocondriais/genética
Mutação/genética
[Mh] Termos MeSH secundário: Trifosfato de Adenosina/genética
Adolescente
Criança
Pré-Escolar
Cútis Laxa/genética
DNA Mitocondrial/genética
Exoma/genética
Feminino
Retardo do Crescimento Fetal/genética
Fibroblastos/patologia
Seres Humanos
Peróxido de Hidrogênio/farmacologia
Lactente
Potencial da Membrana Mitocondrial/efeitos dos fármacos
Potencial da Membrana Mitocondrial/genética
Mitocôndrias/efeitos dos fármacos
Estresse Oxidativo/genética
Progéria/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ATP-Mg-Pi carrier proteins, mitochondria); 0 (Antiporters); 0 (Calcium-Binding Proteins); 0 (DNA, Mitochondrial); 0 (Mitochondrial Proteins); 0 (SLC25A24 protein, human); 8L70Q75FXE (Adenosine Triphosphate); BBX060AN9V (Hydrogen Peroxide)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171117
[Lr] Data última revisão:
171117
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171104
[St] Status:MEDLINE


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[PMID]:28726647
[Au] Autor:Wollina U
[Ad] Endereço:Department of Dermatology and Allergology, Academic Teaching Hospital Dresden-Friedrichstadt, Dresden, Germany.
[Ti] Título:RESULTS OF MINIMAL INVASIVE TREATMENT IN LOCALIZED ACQUIRED CUTIS LAXA TYPE 1 AND TYPE 2 - CASE REPORT AND DISCUSSION.
[So] Source:Georgian Med News;(267):17-19, 2017 Jun.
[Is] ISSN:1512-0112
[Cp] País de publicação:Georgia (Republic)
[La] Idioma:eng
[Ab] Resumo:Cutis laxa is a disease of premature ageing. While the congenital type is characterized by mutations of genes involved in extracellular matrix turnover, acquired cutis laxa is a rare disease that can be induced by a variety of exogenous factors. We present a case of acquired type 2 cutis laxa of the neck due to excessive exposure to natural sunlight and a type 1 facial acquired cutis laxa, both significantly improved by minor invasive procedures. The etiology, prevention and treatment options are discussed.
[Mh] Termos MeSH primário: Toxinas Botulínicas/uso terapêutico
Cútis Laxa/terapia
Preenchedores Dérmicos/uso terapêutico
[Mh] Termos MeSH secundário: Face
Feminino
Seres Humanos
Meia-Idade
Pescoço
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Dermal Fillers); EC 3.4.24.69 (Botulinum Toxins)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170919
[Lr] Data última revisão:
170919
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170721
[St] Status:MEDLINE


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[PMID]:28294978
[Au] Autor:Kariminejad A; Afroozan F; Bozorgmehr B; Ghanadan A; Akbaroghli S; Khorram Khorshid HR; Mojahedi F; Setoodeh A; Loh A; Tan YX; Escande-Beillard N; Malfait F; Reversade B; Gardeitchik T; Morava E
[Ad] Endereço:Kariminejad-Najmabadi Pathology & Genetics Center, #2, 4th Street, Hasan Seyf Street, Sanat Square, Tehran 14667-13713, Iran. arianakariminejad@yahoo.com.
[Ti] Título:Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.
[So] Source:Int J Mol Sci;18(3), 2017 Mar 15.
[Is] ISSN:1422-0067
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of this disease are rare and can have autosomal dominant, autosomal recessive, or X-linked inheritance. Three of the autosomal recessive cutis laxa syndromes, namely cutis laxa IIA (ARCL2A), cutis laxa IIB (ARCL2B), and geroderma osteodysplastica (GO), have very similar clinical features, complicating accurate diagnosis. Individuals with these conditions often present with cutis laxa, progeroid features, and hyperextensible joints. These conditions also share additional features, such as short stature, hypotonia, and congenital hip dislocation, but the severity and frequency of these findings are variable in each of these cutis laxa syndromes. The characteristic features for ARCL2A are abnormal isoelectric focusing and facial features, including downslanting palpebral fissures and a long philtrum. Rather, the clinical phenotype of ARCL2B includes severe wrinkling of the dorsum of the hands and feet, wormian bones, athetoid movements, lipodystrophy, cataract and corneal clouding, a thin triangular face, and a pinched nose. Normal cognition and osteopenia leading to pathological fractures, maxillary hypoplasia, and oblique furrowing from the outer canthus to the lateral border of the supraorbital ridge are discriminative features for GO. Here we present 10 Iranian patients who were initially diagnosed clinically using the respective features of each cutis laxa syndrome. Each patient's clinical diagnosis was then confirmed with molecular investigation of the responsible gene. Review of the clinical features from the cases reported from the literature also supports our conclusions.
[Mh] Termos MeSH primário: Doenças Ósseas/congênito
Cútis Laxa/diagnóstico
Nanismo/diagnóstico
Fenótipo
Dermatopatias Genéticas/diagnóstico
[Mh] Termos MeSH secundário: Adulto
Doenças Ósseas/diagnóstico
Criança
Pré-Escolar
Diagnóstico Diferencial
Feminino
Seres Humanos
Lactente
Masculino
Síndrome
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170420
[Lr] Data última revisão:
170420
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170316
[St] Status:MEDLINE


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[PMID]:28194412
[Au] Autor:Li L; Ye Y; Sang P; Yin Y; Hu W; Wang J; Zhang C; Li D; Wan W; Li R; Li L; Ma L; Xie Y; Meng Z
[Ad] Endereço:Laboratory of Molecular Cardiology, Department of Cardiology, The First Affiliated Hospital of Kunming Medical University, Kunming, China.
[Ti] Título:Effect of R119G Mutation on Human P5CR1 Dynamic Property and Enzymatic Activity.
[So] Source:Biomed Res Int;2017:4184106, 2017.
[Is] ISSN:2314-6141
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Pyrroline-5-carboxylate reductase (P5CR1) is a universal housekeeping enzyme that catalyzes the reduction of Δ1-pyrroline-5-carboxylate (P5C) to proline with concomitant oxidation of NAD(P)H to NAD(P) . The enzymatic cycle between P5C and proline is important for function in amino acid metabolism, apoptosis, and intracellular redox potential balance in mitochondria. Autosomal recessive cutis laxa (ARCL) results from a mutation in P5CR1 encoded by PYCR1. Specifically, the R119G mutation is reported to be linked to ARCL although it has not yet been characterized. We synthesized R119G P5CR1 and compared it to WT P5CR1. Foldx prediction of WT and R119G mutant P5CR1 protein stability suggests that the R119G mutation could significantly reduce protein stability. We also performed enzymatic activity assays to determine how the mutation impacts P5CR1 enzymatic function. The results of these experiments show that mutagenesis of R119 to G decreases P5CR1 catalytic efficiency for 3,4-dehydro-L-proline relative to WT. Mutagenesis and kinetic studies reveal that the activity of the mutant decreases as temperature increases from 5°C to 37°C, with almost no activity at 37°C, indicating that this mutation impairs P5CR1 function in vivo. Conversely, WT P5CR1 retains its activity after incubation at 37°C and has essentially no remaining activity at 75°C. Taken together, our experimental results indicate the R119G mutation could be an involving pathomechanism for ARCL.
[Mh] Termos MeSH primário: Cútis Laxa
Mutação de Sentido Incorreto
Dobramento de Proteína
Pirrolina Carboxilato Redutases
[Mh] Termos MeSH secundário: Substituição de Aminoácidos
Catálise
Cristalografia por Raios X
Cútis Laxa/enzimologia
Cútis Laxa/genética
Estabilidade Enzimática/genética
Seres Humanos
Pirrolina Carboxilato Redutases/química
Pirrolina Carboxilato Redutases/genética
Pirrolina Carboxilato Redutases/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 1.5.1.- (Pyrroline Carboxylate Reductases); EC 1.5.1.2 (delta-1-pyrroline-5-carboxylate reductase)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170224
[Lr] Data última revisão:
170224
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170215
[St] Status:MEDLINE
[do] DOI:10.1155/2017/4184106


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[PMID]:28065471
[Au] Autor:Van Damme T; Gardeitchik T; Mohamed M; Guerrero-Castillo S; Freisinger P; Guillemyn B; Kariminejad A; Dalloyaux D; van Kraaij S; Lefeber DJ; Syx D; Steyaert W; De Rycke R; Hoischen A; Kamsteeg EJ; Wong SY; van Scherpenzeel M; Jamali P; Brandt U; Nijtmans L; Korenke GC; Chung BHY; Mak CCY; Hausser I; Kornak U; Fischer-Zirnsak B; Strom TM; Meitinger T; Alanay Y; Utine GE; Leung PKC; Ghaderi-Sohi S; Coucke P; Symoens S; De Paepe A; Thiel C; Haack TB; Malfait F; Morava E; Callewaert B; Wevers RA
[Ad] Endereço:Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent 9000, Belgium.
[Ti] Título:Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
[So] Source:Am J Hum Genet;100(2):216-227, 2017 Feb 02.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Defects of the V-type proton (H ) ATPase (V-ATPase) impair acidification and intracellular trafficking of membrane-enclosed compartments, including secretory granules, endosomes, and lysosomes. Whole-exome sequencing in five families affected by mild to severe cutis laxa, dysmorphic facial features, and cardiopulmonary involvement identified biallelic missense mutations in ATP6V1E1 and ATP6V1A, which encode the E1 and A subunits, respectively, of the V domain of the heteromultimeric V-ATPase complex. Structural modeling indicated that all substitutions affect critical residues and inter- or intrasubunit interactions. Furthermore, complexome profiling, a method combining blue-native gel electrophoresis and liquid chromatography tandem mass spectrometry, showed that they disturb either the assembly or the stability of the V-ATPase complex. Protein glycosylation was variably affected. Abnormal vesicular trafficking was evidenced by delayed retrograde transport after brefeldin A treatment and abnormal swelling and fragmentation of the Golgi apparatus. In addition to showing reduced and fragmented elastic fibers, the histopathological hallmark of cutis laxa, transmission electron microscopy of the dermis also showed pronounced changes in the structure and organization of the collagen fibers. Our findings expand the clinical and molecular spectrum of metabolic cutis laxa syndromes and further link defective extracellular matrix assembly to faulty protein processing and cellular trafficking caused by genetic defects in the V-ATPase complex.
[Mh] Termos MeSH primário: Cútis Laxa/genética
Mutação de Sentido Incorreto
ATPases Vacuolares Próton-Translocadoras/genética
[Mh] Termos MeSH secundário: Adolescente
Alelos
Sequência de Aminoácidos
Estudos de Casos e Controles
Criança
Feminino
Fibroblastos/metabolismo
Regulação da Expressão Gênica
Estudo de Associação Genômica Ampla
Glicosilação
Complexo de Golgi/metabolismo
Seres Humanos
Lactente
Recém-Nascido
Masculino
Linhagem
Conformação Proteica
Transporte Proteico
Espectrometria de Massas em Tandem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.6.1.- (ATP6V1A protein, human); EC 3.6.1.- (ATP6V1E2 protein, human); EC 3.6.1.- (Vacuolar Proton-Translocating ATPases)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170802
[Lr] Data última revisão:
170802
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170110
[St] Status:MEDLINE


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[PMID]:27604556
[Au] Autor:Al-Bughaili M; Neuhann TM; Flöttmann R; Mundlos S; Spielmann M; Kornak U; Fischer-Zirnsak B
[Ad] Endereço:Institut fuer Medizinische Genetik und Humangenetik, Charité-Universitaetsmedizin Berlin, Berlin, Germany.
[Ti] Título:A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa.
[So] Source:J Hum Genet;62(2):325-328, 2017 Feb.
[Is] ISSN:1435-232X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Gerodermia osteodysplastica is a recessive segmental progeroid disorder mainly characterized by wrinkled skin, generalized connective tissue weakness, infantile onset osteoporosis and normal intelligence. Coding mutations in GORAB, localized on chromosome 1q24.2, are the cause of this disease. 1q24 deletions underlie a spectrum of disorders with intellectual disability and ear abnormalities as phenotypic hallmarks. Here we report on an individual from Azerbaijan originating from a non-consanguineous couple showing short stature, cutis laxa, frequent fractures, facial dysmorphism, cup-shaped ears and intellectual disability. Sanger sequencing of GORAB revealed the seemingly homozygous missense mutation p.Ser175Phe. This mutation was detected in a heterozygous state in the clinically unaffected mother, but was absent in the healthy father. We performed copy-number investigations by high-resolution array-CGH and PCR approaches and found an ~6 Mb de novo deletion spanning 1q23.3-q24.2 in the affected boy. This novel combination of genetic defects very well explains the phenotype that goes beyond the usual presentation of gerodermia osteodysplastica. Our data provide new insight into the phenotypic spectrum of 1q23-q25 deletions and shows that the combination with another pathogenic allele can lead to more severe clinical manifestations.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/genética
Doenças Ósseas/congênito
Deleção Cromossômica
Cromossomos Humanos Par 1/genética
Cútis Laxa/genética
Nanismo/genética
Deficiência Intelectual/genética
Dermatopatias Genéticas/genética
[Mh] Termos MeSH secundário: Azerbaijão
Doenças Ósseas/genética
Pré-Escolar
Facies
Seres Humanos
Masculino
Mutação de Sentido Incorreto/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170524
[Lr] Data última revisão:
170524
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160909
[St] Status:MEDLINE
[do] DOI:10.1038/jhg.2016.111


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[PMID]:27626145
[Au] Autor:Briceño CA; Fuller ML; Bradley EA; Nelson CC
[Ad] Endereço:Department of Ophthalmology, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, USA.
[Ti] Título:Assessment of the Abbreviated National Eye Institute Visual Function Questionnaire (NEI VFQ 9) in blepharoptosis and dermatochalasis.
[So] Source:Arq Bras Oftalmol;79(4):226-8, 2016 Jul-Aug.
[Is] ISSN:1678-2925
[Cp] País de publicação:Brazil
[La] Idioma:eng
[Ab] Resumo:PURPOSE: To evaluate the Abbreviated National Eye Institute Visual Function Questionnaire (NEI VFQ 9), which is shorter than those previously published, as a tool for assessing vision-related quality of life in patients with ptosis and dermatochalasis. METHODS: This is a cohort study of 46 patients who underwent blepharoptosis and/or upper eyelid blepharoplasty surgery by a single surgeon (CN) in 2013 in a public, academic, ambulatory care referral center. Patients included 29 who underwent blepharoplasty, 11 who underwent ptosis surgery, and 6 who underwent combined surgery. The NEI-VFQ 9 was administered pre- and postoperatively, and the composite scores were compared using Student's t-test. Survey duration was timed in a subset of patients. The hypothesis was that the NEI VFQ 9 could detect a statistically significant improvement in composite score after surgical intervention. RESULTS: The mean pre- and postoperative NEI VFQ 9 composite scores were 74.9 and 86.8, respectively, in the blepharoplasty-only group (P<0.0001), 72.07 and 86.41, respectively, in the ptosis-only group (P=0.004), and 75.8 and 87.2, respectively, in the combined group (P=0.022). There was no correlation between the gain in composite score and the change in upper eyelid margin to reflex distance. Twenty-five patients were timed filling out the survey, and the mean was 2.3 min. CONCLUSIONS: The NEI VFQ 9 consistently demonstrates a significant increase in visual function for blepharoptosis and dermatochalasis patients. Thus, it may be a useful tool for assessing vision-related quality of life in patients with ptosis and dermatochalasis.
[Mh] Termos MeSH primário: Blefaroptose/cirurgia
Doenças Palpebrais/cirurgia
Pálpebras/cirurgia
Qualidade de Vida
Inquéritos e Questionários/normas
[Mh] Termos MeSH secundário: Idoso
Blefaroplastia/métodos
Estudos de Coortes
Cútis Laxa/cirurgia
Feminino
Seres Humanos
Masculino
Meia-Idade
National Eye Institute (U.S.)
Satisfação do Paciente
Reprodutibilidade dos Testes
Fatores de Tempo
Resultado do Tratamento
Estados Unidos
Acuidade Visual
[Pt] Tipo de publicação:EVALUATION STUDIES; JOURNAL ARTICLE
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160915
[St] Status:MEDLINE


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[PMID]:27617526
[Au] Autor:Vajdi T; Lee WW; Paravar T
[Ad] Endereço:University of California, San Diego School of Medicine.
[Ti] Título:Penicillamine-associated cutis laxa and milia en plaque - case report and review of cutaneous changes associated with penicillamine.
[So] Source:Dermatol Online J;22(5), 2016 May 15.
[Is] ISSN:1087-2108
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Penicillamine-induced skin changes are rare and include: hypersensitivity reactions, autoimmune reactions, and cutaneous elastoses. We report a case of a 73-year-old man with cystinuria taking penicillamine for over 50 years who presented with penicillamine-induced cutis laxa and milia en plaque. A brief review of penicillamine induced skin changes, specifically cutis laxa and milia en plaque, is presented.
[Mh] Termos MeSH primário: Quelantes/efeitos adversos
Cútis Laxa/induzido quimicamente
Cistinúria/tratamento farmacológico
Penicilamina/efeitos adversos
Doenças das Glândulas Sudoríparas/induzido quimicamente
[Mh] Termos MeSH secundário: Idoso
Seres Humanos
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Chelating Agents); GNN1DV99GX (Penicillamine)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170425
[Lr] Data última revisão:
170425
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160913
[St] Status:MEDLINE


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[PMID]:27601358
[Au] Autor:Bou-Assi E; Bonniaud B; Grimaldi M; Faivre L; Vabres P
[Ad] Endereço:Department of Dermatology, Dijon University Hospital, Dijon, France.
[Ti] Título:Neonatal Cutis Laxa and Hypertrichosis Lanuginosa in Sotos Syndrome.
[So] Source:Pediatr Dermatol;33(6):e351-e352, 2016 Nov.
[Is] ISSN:1525-1470
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:We report a case of transient neonatal cutis laxa and hypertrichosis lanuginosa as an initial presentation in Sotos syndrome. Little is known about skin involvement in Sotos syndrome. Our observation highlights that Sotos syndrome is a rare cause of cutis laxa and suggests that it is a useful neonatal skin clue to the diagnosis of overgrowth syndromes.
[Mh] Termos MeSH primário: Cútis Laxa/complicações
Hipertricose/congênito
Síndrome de Sotos/complicações
[Mh] Termos MeSH secundário: Seres Humanos
Hipertricose/complicações
Recém-Nascido
Masculino
Síndrome de Sotos/diagnóstico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170517
[Lr] Data última revisão:
170517
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160908
[St] Status:MEDLINE
[do] DOI:10.1111/pde.12969


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[PMID]:27561080
[Au] Autor:Nakra T; Modjtahedi S; Vrcek I; Mancini R; Saulny S; Goldberg RA
[Ad] Endereço:a TOC Eye and Face , Austin , Texas , USA.
[Ti] Título:The effect of upper eyelid blepharoplasty on eyelid and brow position.
[So] Source:Orbit;35(6):324-327, 2016 Dec.
[Is] ISSN:1744-5108
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:This article evaluates the effect of upper eyelid blepharoplasty on eyelid margin position and brow height. This study is a retrospective analysis of patients who underwent upper eyelid blepharoplasty without concurrent blepharoptosis repair or brow surgery. The medical records of the participants were retrospectively reviewed and an established image analysis software was used to quantify the upper margin reflex distance (MRD1) as well as brow height using high quality standardized clinical photographs. A total of 19 patients (38 eyelids and brows) met the inclusion criteria. The mean preoperative MRD1 was 2.8 mm, and the mean post-operative MRD1 was 3.5 mm, revealing an increase of MRD1 from upper blepharoplasty alone of 0.7 mm (p = 0.0001). The mean preoperative brow position was 17.5 mm above the pupil, and the mean post-operative position was 17.4 mm, for an average change of position of -0.2 mm (p = 0.39) following upper eyelid blepharoplasty. Upper eyelid blepharoplasty without ptosis surgery results in a statistically significant increase in MRD1. Brow position does not demonstrate a statistically significant change in patients who undergo upper eyelid blepharoplasty for simple dermatochalasis.
[Mh] Termos MeSH primário: Blefaroplastia
Sobrancelhas/anatomia & histologia
Pálpebras/anatomia & histologia
Envelhecimento da Pele
[Mh] Termos MeSH secundário: Idoso
Cútis Laxa/cirurgia
Feminino
Seres Humanos
Processamento de Imagem Assistida por Computador
Masculino
Estudos Retrospectivos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170131
[Lr] Data última revisão:
170131
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160826
[St] Status:MEDLINE



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