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[PMID]:28720532
[Au] Autor:Afifi HH; Amr KS; Tosson AMS; Hassan TA; Mehrez MI; El-Kamah GY
[Ad] Endereço:Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt. Electronic address: hhafifi@gmail.com.
[Ti] Título:Lipoid proteinosis: A clinical and molecular study in Egyptian patients.
[So] Source:Gene;628:308-314, 2017 Sep 10.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Lipoid proteinosis (LP) is an autosomal recessive disorder caused by the loss of function of ECM1 gene. Clinical features include varying degrees of skin thickening, hoarseness of voice and less frequently neuropsychiatric abnormalities. Twelve patients from ten unrelated families with a clinical diagnosis of lipoid proteinosis were enrolled in this study. Extraction of DNA samples of the 12 patients and their parents from peripheral blood by standard methods was performed. Polymerase chain reaction (PCR) amplification of the ECM1 gene was conducted using eight pairs of primers spanning over the 10 exons and splice junctions. Patients exhibited a variety of clinical manifestations with skin affection and hoarseness of voice being the consistent feature. We identified five novel homozygous insertion, small deletion, missense, and splice site mutations as well as two homozygous previously published splice site mutation c.70+1G>C in intron 1 and c.1305-2A>G in intron 8. The specific mutations were: c.10_11insC in exon 1, c.690_691delAG in exon 6, c.734G>A in exon 7, c.1286_1287delAA in exon 8 and c.1393-1G>T in intron 9. The novel mutations c.1393-1G>T and c.10_11insC occurred in three (30%) and two (20%) unrelated patients of the studied families, respectively. Further studies may designate an increased frequency of these mutations among Egyptian LP patients. Identification of pathogenic ECM1 mutations is important for accurate diagnosis and proper genetic counseling.
[Mh] Termos MeSH primário: Proteinose Lipoide de Urbach e Wiethe/diagnóstico
Proteinose Lipoide de Urbach e Wiethe/genética
[Mh] Termos MeSH secundário: Adolescente
Idade de Início
Alelos
Criança
Pré-Escolar
Consanguinidade
Análise Mutacional de DNA
Egito
Proteínas da Matriz Extracelular/genética
Feminino
Genótipo
Seres Humanos
Lactente
Masculino
Mutação
Linhagem
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ECM1 protein, human); 0 (Extracellular Matrix Proteins)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171009
[Lr] Data última revisão:
171009
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170720
[St] Status:MEDLINE


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[PMID]:28374005
[Au] Autor:Hortensius R; Terburg D; Morgan B; Stein DJ; van Honk J; de Gelder B
[Ad] Endereço:Brain and Emotion Laboratory, Department of Cognitive Neuroscience, Faculty of Psychology and Neuroscience, Maastricht University, Oxfordlaan 55, 6229 EV Maastricht, The Netherlands; Department of Psychiatry and Mental Health, University of Cape Town, J-Block, Groote Schuur Hospital, Observatory, Ca
[Ti] Título:The Basolateral Amygdalae and Frontotemporal Network Functions for Threat Perception.
[So] Source:eNeuro;4(1), 2017 Jan-Feb.
[Is] ISSN:2373-2822
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Although the amygdalae play a central role in threat perception and reactions, the direct contributions of the amygdalae to specific aspects of threat perception, from ambiguity resolution to reflexive or deliberate action, remain ill understood in humans. Animal studies show that a detailed understanding requires a focus on the different subnuclei, which is not yet achieved in human research. Given the limits of human imaging methods, the crucial contribution needs to come from individuals with exclusive and selective amygdalae lesions. The current study investigated the role of the basolateral amygdalae and their connection with associated frontal and temporal networks in the automatic perception of threat. Functional activation and connectivity of five individuals with Urbach-Wiethe disease with focal basolateral amygdalae damage and 12 matched controls were measured with functional MRI while they attended to the facial expression of a threatening face-body compound stimuli. Basolateral amygdalae damage was associated with decreased activation in the temporal pole but increased activity in the ventral and dorsal medial prefrontal and medial orbitofrontal cortex. This dissociation between the prefrontal and temporal networks was also present in the connectivity maps. Our results contribute to a dynamic, multirole, subnuclei-based perspective on the involvement of the amygdalae in fear perception. Damage to the basolateral amygdalae decreases activity in the temporal network while increasing activity in the frontal network, thereby potentially triggering a switch from resolving ambiguity to dysfunctional threat signaling and regulation, resulting in hypersensitivity to threat.
[Mh] Termos MeSH primário: Complexo Nuclear Basolateral da Amígdala/fisiopatologia
Medo/fisiologia
Lobo Frontal/fisiopatologia
Proteinose Lipoide de Urbach e Wiethe/fisiopatologia
Proteinose Lipoide de Urbach e Wiethe/psicologia
Lobo Temporal/fisiopatologia
[Mh] Termos MeSH secundário: Adulto
Complexo Nuclear Basolateral da Amígdala/diagnóstico por imagem
Mapeamento Encefálico
Feminino
Lobo Frontal/diagnóstico por imagem
Felicidade
Seres Humanos
Proteinose Lipoide de Urbach e Wiethe/diagnóstico por imagem
Imagem por Ressonância Magnética
Meia-Idade
Vias Neurais/diagnóstico por imagem
Vias Neurais/fisiopatologia
Testes Neuropsicológicos
Reconhecimento Visual de Modelos/fisiologia
Percepção Social
Lobo Temporal/diagnóstico por imagem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171031
[Lr] Data última revisão:
171031
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170405
[St] Status:MEDLINE


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[PMID]:27049452
[Au] Autor:Chen Z; Calawerts W; Zhang Y; Jiang J; Xu W
[Ad] Endereço:Department of Otorhinolaryngology Head and Neck Surgery, The Eye and ENT Hospital of Fudan University, Shanghai, China.
[Ti] Título:A Case Report: Hybrid Treatment Approach to Lipoid Proteinosis of the Larynx.
[So] Source:J Voice;31(1):128.e15-128.e19, 2017 Jan.
[Is] ISSN:1873-4588
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Previous research on treatment of lipoid proteinosis has focused on genetic etiology and clinical diagnosis of this rare laryngeal disorder. However, few studies on this disorder have examined treatment methods directed at improving voice qualities. The purpose of this study was to examine a novel hybrid treatment approach and its improvements in the patient's voice quality. STUDY DESIGN AND METHODS: In this case study, a 27-year-old man complaining of hoarseness of voice and effortful phonation was diagnosed with lipoid proteinosis. He was then prescribed a combination of surgical intervention and voice therapy to improve his overall voice quality. RESULTS: The results of the posttreatment evaluation demonstrate significant improvements in both objective and subjective voice quality measurements. CONCLUSION: A further examination of this hybrid approach in the treatment of lipoid proteinosis is warranted to determine its efficacy.
[Mh] Termos MeSH primário: Rouquidão/terapia
Proteinose Lipoide de Urbach e Wiethe/terapia
Microcirurgia/métodos
Qualidade da Voz
Treinamento da Voz
[Mh] Termos MeSH secundário: Adulto
Terapia Combinada
Rouquidão/diagnóstico
Rouquidão/fisiopatologia
Seres Humanos
Laringoscopia
Proteinose Lipoide de Urbach e Wiethe/diagnóstico
Proteinose Lipoide de Urbach e Wiethe/fisiopatologia
Masculino
Fonação
Recuperação de Função Fisiológica
Estroboscopia
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170619
[Lr] Data última revisão:
170619
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160407
[St] Status:MEDLINE


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[PMID]:27874886
[Au] Autor:Bilgiç Ö; Hira H; Altinyazar HC; Karabagli P
[Ad] Endereço:Department of Dermatology, Selçuk University, School of Medicine, Konya, Turkey.
[Ti] Título:Beaded papules along the eyelid margins.
[So] Source:Cutis;98(4):E1-E3, 2016 Oct.
[Is] ISSN:2326-6929
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Pálpebras
Dermatoses Faciais/diagnóstico
Proteinose Lipoide de Urbach e Wiethe/diagnóstico
[Mh] Termos MeSH secundário: Consanguinidade
Feminino
Seres Humanos
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[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:161123
[St] Status:MEDLINE


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[PMID]:27824015
[Au] Autor:Bai X; Liu JW; Ma DL
[Ad] Endereço:Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730; Department of Medical Genetics, McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, Beijing 100005, China.
[Ti] Título:Novel Mutations in Extracellular Matrix Protein 1 Gene in a Chinese Patient with Lipoid Proteinosis.
[So] Source:Chin Med J (Engl);129(22):2765-2766, 2016 11 20.
[Is] ISSN:0366-6999
[Cp] País de publicação:China
[La] Idioma:eng
[Mh] Termos MeSH primário: Proteínas da Matriz Extracelular/genética
Proteinose Lipoide de Urbach e Wiethe/genética
[Mh] Termos MeSH secundário: Adulto
Grupo com Ancestrais do Continente Asiático/genética
Seres Humanos
Masculino
Mutação
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ECM1 protein, human); 0 (Extracellular Matrix Proteins)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170323
[Lr] Data última revisão:
170323
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161109
[St] Status:MEDLINE
[do] DOI:10.4103/0366-6999.193446


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[PMID]:27241643
[Au] Autor:Izadi F; Mahjoubi F; Farhadi M; Kalayinia S; Bidmeshkipour A; Tavakoli MM; Samanian S
[Ad] Endereço:ENT & HNS Research Center, Hazart Rasoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
[Ti] Título:Extracellular matrix protein 1 gene (ECM1) mutations in nine Iranian families with lipoid proteinosis.
[So] Source:Indian J Med Res;143(3):303-7, 2016 Mar.
[Is] ISSN:0971-5916
[Cp] País de publicação:India
[La] Idioma:eng
[Ab] Resumo:BACKGROUND & OBJECTIVES: Lipoid proteinosis (LP) is an autosomal recessive disease. Clinical characteristics of this disease are hoarse voice, scarring of the skin, brain calcifications, and eyelid papules (moniliform blepharosis). Mutations in the ECM1 gene on 1q21.2 are responsible for this disease. This study was conducted to investigate the mutation spectrum of ECM1 gene in nine Iranian families having at least one LP patient diagnosed clinically. METHODS: The entire ECM1 gene was screened using PCR and direct sequencing in nine Iranian families with 12 suspected LP patients who were referred to the clinic, along with their parents and siblings. Thirty healthy individuals were included as controls. RESULTS: In only one patient a homozygous G>A transition at nucleotide c.806 in exon 7 was detected. A G>A substitution at nucleotide 1243 in exon 8 that changes glycine (GGT) to serine (AGT) was observed in most of our patients. Furthermore, in one patient there was a change in the sequence of intron 8, the A>T transition in nucleotide 4307. In addition, in two cases (one patient and one healthy mother with affected child) there was a C (4249) deletion in intron 8. INTERPRETATION & CONCLUSIONS: Our results indicate that although mutation in ECM1gene is responsible for lipoid proteinosis, it is likely that this is not the only gene causing this disease and probably other genes may be involved in the pathogenesis of the LP disease.
[Mh] Termos MeSH primário: Proteínas da Matriz Extracelular/genética
Proteinose Lipoide de Urbach e Wiethe/epidemiologia
Proteinose Lipoide de Urbach e Wiethe/genética
Mutação de Sentido Incorreto/genética
[Mh] Termos MeSH secundário: Criança
Éxons
Feminino
Seres Humanos
Irã (Geográfico)
Proteinose Lipoide de Urbach e Wiethe/patologia
Masculino
Linhagem
Irmãos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ECM1 protein, human); 0 (Extracellular Matrix Proteins)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160601
[St] Status:MEDLINE
[do] DOI:10.4103/0971-5916.182620


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[PMID]:27173975
[Au] Autor:Pishnamazi M; Tafakhori A; Loloee S; Modabbernia A; Aghamollaii V; Bahrami B; Winston JS
[Ad] Endereço:Iranian Center of Neurological Research, Department of Neurology, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran; Students' Scientific Research Center, Tehran University of Medical Sciences, Tehran, Iran. Electronic address: m.pishnamazi@gmail.com.
[Ti] Título:Attentional bias towards and away from fearful faces is modulated by developmental amygdala damage.
[So] Source:Cortex;81:24-34, 2016 Aug.
[Is] ISSN:1973-8102
[Cp] País de publicação:Italy
[La] Idioma:eng
[Ab] Resumo:The amygdala is believed to play a major role in orienting attention towards threat-related stimuli. However, behavioral studies on amygdala-damaged patients have given inconsistent results-variously reporting decreased, persisted, and increased attention towards threat. Here we aimed to characterize the impact of developmental amygdala damage on emotion perception and the nature and time-course of spatial attentional bias towards fearful faces. We investigated SF, a 14-year-old with selective bilateral amygdala damage due to Urbach-Wiethe disease (UWD), and ten healthy controls. Participants completed a fear sensitivity questionnaire, facial expression classification task, and dot-probe task with fearful or neutral faces for spatial cueing. Three cue durations were used to assess the time-course of attentional bias. SF expressed significantly lower fear sensitivity, and showed a selective impairment in classifying fearful facial expressions. Despite this impairment in fear recognition, very brief (100 msec) fearful cues could orient SF's spatial attention. In healthy controls, the attentional bias emerged later and persisted longer. SF's attentional bias was due solely to facilitated engagement to fear, while controls showed the typical phenomenon of difficulty in disengaging from fear. Our study is the first to demonstrate the separable effects of amygdala damage on engagement and disengagement of spatial attention. The findings indicate that multiple mechanisms contribute in biasing attention towards fear, which vary in their timing and dependence on amygdala integrity. It seems that the amygdala is not essential for rapid attention to emotion, but probably has a role in assessment of biological relevance.
[Mh] Termos MeSH primário: Tonsila do Cerebelo/fisiopatologia
Viés de Atenção/fisiologia
Expressão Facial
Medo/fisiologia
Proteinose Lipoide de Urbach e Wiethe/fisiopatologia
[Mh] Termos MeSH secundário: Adulto
Tonsila do Cerebelo/lesões
Face/fisiologia
Feminino
Seres Humanos
Masculino
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160514
[St] Status:MEDLINE


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[PMID]:27091312
[Au] Autor:Koen N; Fourie J; Terburg D; Stoop R; Morgan B; Stein DJ; van Honk J
[Ad] Endereço:Department of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa.
[Ti] Título:Translational neuroscience of basolateral amygdala lesions: Studies of Urbach-Wiethe disease.
[So] Source:J Neurosci Res;94(6):504-12, 2016 Jun.
[Is] ISSN:1097-4547
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Urbach-Wiethe disease (UWD) is an extremely rare autosomal recessive disorder characterized by mutations in the extracellular matrix protein 1 gene on chromosome 1. Typical clinical manifestations include voice hoarseness in early infancy and neuropsychiatric, laryngeal, and dermatological pathologies later in life. Neuroimaging studies have revealed a pattern of brain calcification often but not exclusively leading to selective bilateral amygdala damage. A large body of work on amygdala lesions in rodents exists, generally employing a subregion model focused on the basolateral amygdala (BLA) and the central-medial amygdala. However, human work usually considers the amygdala as a unified structure, not only complicating the translation of animal findings to humans but also providing a unique opportunity for further research. To compare data from rodent models with human cases and to complement existing data from Europe and North America, a series of investigations was undertaken on UWD subjects with selective BLA damage in the Namaqualand region, South Africa. This review presents key findings from this work, including fear processing, social-economic behavior, and emotional conflict processing. Our findings are broadly consistent with and support rodent models of selective BLA lesions and show that the BLA is integral to processing sensory stimuli and exhibits inhibitory regulation of responses to unconditioned innate fear stimuli. Furthermore, our findings suggest that the human BLA mediates calculative-instrumental economic behaviors and may compromise working memory via competition for attentional resources between the BLA salience detection system and the dorsolateral prefrontal cortex working memory system.
[Mh] Termos MeSH primário: Complexo Nuclear Basolateral da Amígdala/lesões
Lesões Encefálicas/complicações
Lesões Encefálicas/patologia
Proteinose Lipoide de Urbach e Wiethe/etiologia
Pesquisa Médica Translacional
[Mh] Termos MeSH secundário: Animais
Modelos Animais de Doenças
Seres Humanos
Proteinose Lipoide de Urbach e Wiethe/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170116
[Lr] Data última revisão:
170116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160420
[St] Status:MEDLINE
[do] DOI:10.1002/jnr.23731


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[PMID]:27069053
[Au] Autor:Hortensius R; Terburg D; Morgan B; Stein DJ; van Honk J; de Gelder B
[Ad] Endereço:Brain and Emotion Laboratory, Department of Cognitive Neuroscience, Faculty of Psychology and Neuroscience, Maastricht University, Oxfordlaan 55, 6229 EV Maastricht, The Netherlands Cognitive and Affective Neuroscience Laboratory, Tilburg University, Warandelaan 2, 5000 LE Tilburg, The Netherlands D
[Ti] Título:The role of the basolateral amygdala in the perception of faces in natural contexts.
[So] Source:Philos Trans R Soc Lond B Biol Sci;371(1693), 2016 May 05.
[Is] ISSN:1471-2970
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The amygdala is a complex structure that plays its role in perception and threat-related behaviour by activity of its specific nuclei and their separate networks. In the present functional magnetic resonance imaging study, we investigated the role of the basolateral amygdala in face and context processing. Five individuals with focal basolateral amygdala damage and 12 matched controls viewed fearful or neutral faces in a threatening or neutral context. We tested the hypothesis that basolateral amygdala damage modifies the relation between face and threatening context, triggering threat-related activation in the dorsal stream. The findings supported this hypothesis. First, activation was increased in the right precentral gyrus for threatening versus neutral scenes in the basolateral amygdala damage group compared with the control group. Second, activity in the bilateral middle frontal gyrus, and left anterior inferior parietal lobule was enhanced for neutral faces presented in a threatening versus neutral scene in the group with basolateral amygdala damage compared with controls. These findings provide the first evidence for the neural consequences of basolateral amygdala damage during the processing of complex emotional situations.
[Mh] Termos MeSH primário: Complexo Nuclear Basolateral da Amígdala/fisiologia
Expressão Facial
Reconhecimento Facial/fisiologia
[Mh] Termos MeSH secundário: Adulto
Complexo Nuclear Basolateral da Amígdala/patologia
Estudos de Casos e Controles
Emoções
Feminino
Seres Humanos
Proteinose Lipoide de Urbach e Wiethe/patologia
Meia-Idade
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1612
[Cu] Atualização por classe:170505
[Lr] Data última revisão:
170505
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160413
[St] Status:MEDLINE


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[PMID]:27014775
[Au] Autor:Kartal D; Çinar SL; Kartal L; Saka ÖS; Borlu M
[Ad] Endereço:Department of Dermatology and Venereology, Erciyes University Faculty of Medicine, Kayseri, Turkey.
[Ti] Título:Lipoid proteinosis.
[So] Source:Acta Dermatovenerol Alp Pannonica Adriat;25(1):19-21, 2016.
[Is] ISSN:1581-2979
[Cp] País de publicação:Slovenia
[La] Idioma:eng
[Ab] Resumo:Lipoid proteinosis (LP) is an uncommon, autosomal, recessively inherited disorder. It is typically characterized by hoarseness from early infancy, together with various cutaneous manifestations such as waxy papules, acneiform scarring, and eyelid beading. A 42-year-old woman was admitted to our dermatology outpatient clinic complaining of rigidity of the oral mucosa and limitation in tongue movement. She also had a burning sensation and decreased taste perception in the mouth while eating, as well as hoarseness of voice. She was diagnosed with lipoid proteinosis. The typical cutaneous manifestations of LP include waxy yellow papules with generalized skin thickening on the face, extremities, and trunk. Here we report a case with significant mucosal involvement but less skin involvement.
[Mh] Termos MeSH primário: Proteinose Lipoide de Urbach e Wiethe/patologia
[Mh] Termos MeSH secundário: Adulto
Feminino
Seres Humanos
Mucosa Bucal/patologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170104
[Lr] Data última revisão:
170104
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160326
[St] Status:MEDLINE



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