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[PMID]:29390517
[Au] Autor:Tong MJ; Xiang GH; He ZL; Xu HZ; Tian NF
[Ad] Endereço:Department of Spine Surgery, Zhejiang Spine Research Center, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
[Ti] Título:Cervical digit in a child: A case report.
[So] Source:Medicine (Baltimore);96(51):e9348, 2017 Dec.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: A "digit-like" bone is a rare developmental anomaly that is usually seen in the pelvic or thoracic regions. Such an anomaly in the cervical spine is extremely rare and few cases have been reported. We present a patient with an anomalous bone posterior to a cervical vertebra. The patient was admitted to our hospital with a gradually growing hard neck mass and esthetic complaints. Physical examination, radiographs, reconstructed computed tomography, and magnetic resonance imaging revealed a digit-like bone posterior to the cervical spine. The patient was diagnosed with a "cervical digit." Through a posterior midline approach, the anomalous bone was excised because of its gradually increasing size and esthetic complaints. RESULTS: Intraoperatively, the bony mass was found to have a pseudoarticulation with the spinous process of C5 (the fifth cervical vertebra). The specimen consisted of normal bone and cartilage. The child returned to a normal life postoperatively with no symptoms. There was no recurrence at the 2-year follow-up. CONCLUSION: A congenital cervical digit is a rare deformity. A detailed clinical workup and advanced imaging examinations are useful for diagnosing such conditions. Esthetic complaints contribute to surgical indications. This is the first cervical digit managed with surgical excision of the anomalous bone and had a favorable outcome.
[Mh] Termos MeSH primário: Vértebras Cervicais/anormalidades
Imagem Tridimensional
Anormalidades Musculoesqueléticas/diagnóstico por imagem
Osteotomia/métodos
Amplitude de Movimento Articular/fisiologia
[Mh] Termos MeSH secundário: Vértebras Cervicais/diagnóstico por imagem
Criança
Seguimentos
Seres Humanos
Masculino
Anormalidades Musculoesqueléticas/cirurgia
Doenças Raras
Medição de Risco
Tomografia Computadorizada por Raios X/métodos
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180219
[Lr] Data última revisão:
180219
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180203
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009348


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[PMID]:27777327
[Au] Autor:Min Ko J; Cho JS; Yoo Y; Seo J; Choi M; Chae JH; Lee HR; Cho TJ
[Ad] Endereço:1 Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
[Ti] Título:Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.
[So] Source:J Child Neurol;32(2):237-242, 2017 02.
[Is] ISSN:1708-8283
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Wiedemann-Steiner syndrome is a rare genetic disorder characterized by short stature, hairy elbows, facial dysmorphism, and developmental delay. It can also be accompanied by musculoskeletal anomalies such as muscular hypotonia and small hands and feet. Mutations in the KMT2A gene have only recently been identified as the cause of Wiedemann-Steiner syndrome; therefore, only 16 patients from 15 families have been described, and new phenotypic features continue to be added. In this report, we describe 2 newly identified patients with Wiedemann-Steiner syndrome who presented with variable severity. One girl exhibited developmental dysplasia of the hip and fibromatosis colli accompanied by other clinical features, including facial dysmorphism, hypertrichosis, patent ductus arteriosus, growth retardation, and borderline intellectual disability. The other patient, a boy, showed severe developmental retardation with automatic self-mutilation, facial dysmorphism, and hypertrichosis at a later age. Exome sequencing analysis of these patients and their parents revealed a de novo nonsense mutation, p.Gln1978*, of KMT2A in the former, and a missense mutation, p.Gly1168Asp, in the latter, which molecularly confirmed the diagnosis of Wiedemann-Steiner syndrome.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/genética
Deficiências do Desenvolvimento/genética
Luxação Congênita de Quadril/genética
Histona-Lisina N-Metiltransferase/genética
Anormalidades Musculoesqueléticas/genética
Mutação
Proteína de Leucina Linfoide-Mieloide/genética
[Mh] Termos MeSH secundário: Criança
Pré-Escolar
Face/anormalidades
Feminino
Antebraço/anormalidades
Deformidades Congênitas da Mão/genética
Seres Humanos
Hipertricose/genética
Masculino
Síndrome
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (MLL protein, human); 149025-06-9 (Myeloid-Lymphoid Leukemia Protein); EC 2.1.1.43 (Histone-Lysine N-Methyltransferase)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180112
[Lr] Data última revisão:
180112
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161101
[St] Status:MEDLINE
[do] DOI:10.1177/0883073816674095


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[PMID]:28822558
[Au] Autor:Peterman CM; Vadeboncoeur S; Mulliken JB; Fishman SJ; Liang MG
[Ad] Endereço:Tufts University School of Medicine, Boston, Massachusetts; Department of Dermatology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
[Ti] Título:Wilms tumor screening in diffuse capillary malformation with overgrowth and macrocephaly-capillary malformation: A retrospective study.
[So] Source:J Am Acad Dermatol;77(5):874-878, 2017 Nov.
[Is] ISSN:1097-6787
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies) syndrome is associated with regional bony and/or soft tissue overgrowth, capillary malformation, and an increased risk for Wilms tumor. OBJECTIVE: To evaluate the frequency of Wilms tumor in patients with 2 similar conditions: diffuse capillary malformation with overgrowth (DCMO) and macrocephaly-capillary malformation (M-CM). METHODS: Culling our Vascular Anomalies Center database, we retrospectively reviewed patients in whom DCMO and M-CM had been diagnosed and who were evaluated between 1998 and 2016 for possible development of Wilms tumor. Patients younger than 8 years of age at their last visit and not seen in more than 2 years were contacted for follow-up. RESULTS: The study comprised 89 patients: 67 with DCMO, 17 with M-CM, and 5 with an indeterminate diagnosis. No case of Wilms tumor was found in these groups. LIMITATIONS: Some patients were younger than 8 years of age at last follow-up visit and the sample size was small. CONCLUSION: Patients with DCMO do not appear to be at increased risk for Wilms tumor. Screening is probably unnecessary in DCMO unless there is associated hemihypertrophy. Although there were no cases in our cohort, there are 2 reports of M-CM associated with Wilms tumor in the literature.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/epidemiologia
Capilares/anormalidades
Neoplasias Renais/epidemiologia
Megalencefalia/epidemiologia
Dermatopatias Vasculares/epidemiologia
Telangiectasia/congênito
Malformações Vasculares/epidemiologia
Tumor de Wilms/epidemiologia
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/diagnóstico por imagem
Anormalidades Múltiplas/patologia
Distribuição por Idade
Capilares/diagnóstico por imagem
Capilares/patologia
Pré-Escolar
Estudos de Coortes
Comorbidade
Bases de Dados Factuais
Feminino
Seguimentos
Seres Humanos
Incidência
Lactente
Recém-Nascido
Neoplasias Renais/diagnóstico por imagem
Neoplasias Renais/patologia
Lipoma/diagnóstico por imagem
Lipoma/epidemiologia
Lipoma/patologia
Imagem por Ressonância Magnética
Masculino
Megalencefalia/diagnóstico por imagem
Megalencefalia/patologia
Anormalidades Musculoesqueléticas/diagnóstico por imagem
Anormalidades Musculoesqueléticas/epidemiologia
Anormalidades Musculoesqueléticas/patologia
Triagem Neonatal
Nevo/diagnóstico por imagem
Nevo/epidemiologia
Nevo/patologia
Doenças Raras
Estudos Retrospectivos
Medição de Risco
Índice de Gravidade de Doença
Distribuição por Sexo
Dermatopatias Vasculares/diagnóstico por imagem
Dermatopatias Vasculares/patologia
Telangiectasia/diagnóstico por imagem
Telangiectasia/epidemiologia
Telangiectasia/patologia
Fatores de Tempo
Malformações Vasculares/diagnóstico por imagem
Malformações Vasculares/patologia
Tumor de Wilms/diagnóstico por imagem
Tumor de Wilms/patologia
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171102
[Lr] Data última revisão:
171102
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170821
[St] Status:MEDLINE


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[PMID]:28692370
[Au] Autor:Ahmadipour S; Mohsenzadeh A; Sabzevari ZM
[Ad] Endereço:Associate Professor, Faculty of Medicine, Lorestan University of Medical Sciences, Khorramabad, Iran.
[Ti] Título:An intrathoracic rib in a 3-year-old boy.
[So] Source:Br J Hosp Med (Lond);78(7):414, 2017 Jul 02.
[Is] ISSN:1750-8460
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Anormalidades Musculoesqueléticas/diagnóstico por imagem
Costelas/diagnóstico por imagem
[Mh] Termos MeSH secundário: Pré-Escolar
Seres Humanos
Masculino
Radiografia Torácica
Costelas/anormalidades
Tomografia Computadorizada por Raios X
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170926
[Lr] Data última revisão:
170926
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170711
[St] Status:MEDLINE
[do] DOI:10.12968/hmed.2017.78.7.414a


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[PMID]:28692360
[Au] Autor:Paul SP; Pettet G; Vickerstaff H
[Ad] Endereço:Consultant Paediatrician, Department of Paediatrics, Torbay Hospital, Torquay TQ2 7AA.
[Ti] Título:A non-traumatic lump on the chest wall: isolated bifid rib.
[So] Source:Br J Hosp Med (Lond);78(7):414, 2017 Jul 02.
[Is] ISSN:1750-8460
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Anormalidades Musculoesqueléticas/diagnóstico por imagem
Costelas/diagnóstico por imagem
[Mh] Termos MeSH secundário: Criança
Feminino
Seres Humanos
Radiografia Torácica
Costelas/anormalidades
Parede Torácica
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170926
[Lr] Data última revisão:
170926
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170711
[St] Status:MEDLINE
[do] DOI:10.12968/hmed.2017.78.7.414


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[PMID]:28627003
[Au] Autor:Peterman CM; Fevurly RD; Alomari AI; Trenor CC; Adams DM; Vadeboncoeur S; Liang MG; Greene AK; Mulliken JB; Fishman SJ
[Ad] Endereço:Tufts University School of Medicine, Boston, Massachusetts.
[Ti] Título:Sonographic screening for Wilms tumor in children with CLOVES syndrome.
[So] Source:Pediatr Blood Cancer;64(12), 2017 Dec.
[Is] ISSN:1545-5017
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: CLOVES syndrome is associated with somatic mosaic PIK3CA mutations and characterized by congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies. Wilms tumor (WT) is a malignant embryonal renal neoplasm associated with hemihypertrophy and certain overgrowth disorders. After identifying WT in a child with CLOVES, we questioned whether ultrasonographic screening was necessary in these patients. METHODS: We retrospectively reviewed patients with CLOVES syndrome in our Vascular Anomalies Center at Boston Children's Hospital between 1998 and 2016 to identify those who developed WT. A PubMed literature search was also conducted to find other patients with both conditions. RESULTS: A total of 122 patients with CLOVES syndrome were found in our database (mean age 7.7 years, range 0-53 years). Four patients developed WT; all were diagnosed by 2 years of age. The incidence of WT in our CLOVES patient population (3.3%) was significantly greater than the incidence of WT in the general population (1/10,000) (P < 0.001). Four additional patients with WT and CLOVES syndrome were identified in our literature review. CONCLUSION: Patients with CLOVES syndrome have an increased risk of WT. Given the benefits of early detection and treatment, children with CLOVES syndrome should be considered for quarterly abdominal ultrasonography until age 7 years. Screening may be most beneficial for patients under 3 years of age.
[Mh] Termos MeSH primário: Neoplasias Renais/diagnóstico por imagem
Lipoma/diagnóstico por imagem
Anormalidades Musculoesqueléticas/diagnóstico por imagem
Nevo/diagnóstico por imagem
Ultrassonografia
Malformações Vasculares/diagnóstico por imagem
Tumor de Wilms/diagnóstico por imagem
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Pré-Escolar
Classe I de Fosfatidilinositol 3-Quinases/genética
Seres Humanos
Lactente
Recém-Nascido
Neoplasias Renais/epidemiologia
Meia-Idade
Mutação
Estudos Retrospectivos
Tumor de Wilms/epidemiologia
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.1.137 (Class I Phosphatidylinositol 3-Kinases); EC 2.7.1.137 (PIK3CA protein, human)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171026
[Lr] Data última revisão:
171026
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170620
[St] Status:MEDLINE
[do] DOI:10.1002/pbc.26684


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[PMID]:28558098
[Au] Autor:Lohmann K; Redin C; Tönnies H; Bressman SB; Subero JIM; Wiegers K; Hinrichs F; Hellenbroich Y; Rakovic A; Raymond D; Ozelius LJ; Schwinger E; Siebert R; Talkowski ME; Saunders-Pullman R; Klein C
[Ad] Endereço:Institute of Neurogenetics, University Lübeck, Lübeck, Germany.
[Ti] Título:Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.
[So] Source:JAMA Neurol;74(7):806-812, 2017 Jul 01.
[Is] ISSN:2168-6157
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Importance: Chromosomal rearrangements are increasingly recognized to underlie neurologic disorders and are often accompanied by additional clinical signs beyond the gene-specific phenotypic spectrum. Objective: To elucidate the causal genetic variant in a large US family with co-occurrence of dopa-responsive dystonia as well as skeletal and eye abnormalities (ie, ptosis, myopia, and retina detachment). Design, Setting, and Participants: We examined 10 members of a family, including 5 patients with dopa-responsive dystonia and skeletal and/or eye abnormalities, from a US tertiary referral center for neurological diseases using multiple conventional molecular methods, including fluorescence in situ hybridization and array comparative genomic hybridization as well as large-insert whole-genome sequencing to survey multiple classes of genomic variations. Of note, there was a seemingly implausible transmission pattern in this family due to a mutation-negative obligate mutation carrier. Main Outcomes and Measures: Genetic diagnosis in affected family members and insight into the formation of large deletions. Results: Four members were diagnosed with definite and 1 with probable dopa-responsive dystonia. All 5 affected individuals carried a large heterozygous deletion encompassing all 6 exons of GCH1. Additionally, all mutation carriers had congenital ptosis requiring surgery, 4 had myopia, 2 had retinal detachment, and 2 showed skeletal abnormalities of the hands, ie, polydactyly or syndactyly or missing a hand digit. Two individuals were reported to be free of any disease. Analyses revealed complex chromosomal rearrangements on chromosome 14q21-22 in unaffected individuals that triggered the expansion to a larger deletion segregating with affection status. The expansion occurred recurrently, explaining the seemingly non-mendelian inheritance pattern. These rearrangements included a deletion of GCH1, which likely contributes to the dopa-responsive dystonia, as well as a deletion of BMP4 as a potential cause of digital and eye abnormalities. Conclusions and Relevance: Our findings alert neurologists to the importance of clinical red flags, ie, unexpected co-occurrence of clinical features that may point to the presence of chromosomal rearrangements as the primary disease cause. The clinical management and diagnostics of such patients requires an interdisciplinary approach in modern clinical-diagnostic care.
[Mh] Termos MeSH primário: Proteína Morfogenética Óssea 4/genética
Distúrbios Distônicos/genética
Anormalidades do Olho/genética
GTP Cicloidrolase/genética
Anormalidades Musculoesqueléticas/genética
[Mh] Termos MeSH secundário: Deleção Cromossômica
Seres Humanos
Linhagem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BMP4 protein, human); 0 (Bone Morphogenetic Protein 4); EC 3.5.4.16 (GTP Cyclohydrolase)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170719
[Lr] Data última revisão:
170719
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170531
[St] Status:MEDLINE
[do] DOI:10.1001/jamaneurol.2017.0666


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[PMID]:28427978
[Au] Autor:Tambawala SS; Karjodkar FR; Sansare K; Motghare D; Mishra I; Gaikwad S; Dora AC
[Ad] Endereço:Private Practitioner, Powai, Mumbai, Maharashtra, India. Electronic address: shezt3@gmail.com.
[Ti] Título:Prevalence of Ponticulus Posticus on Lateral Cephalometric Radiographs, its Association with Cervicogenic Headache and a Review of Literature.
[So] Source:World Neurosurg;103:566-575, 2017 Jul.
[Is] ISSN:1878-8769
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: The aim of this study was to calculate the prevalence of ponticulus posticus (a small bony bridge on the dorsal aspect of the atlas on lateral digital cephalometric radiographs) and classify it into a complete ring or an incomplete ring. The study also investigated its association with the presence or absence of cervicogenic headache in the examined population; a literature review of ponticulus posticus is also presented. METHODS: The presence and types of ponticuli posticus were investigated on 500 digital lateral cephalograms and the same patients were questioned for a history of cervicogenic headache. RESULTS: In 500 patients, 79 ponticulus posticus (34 complete and 45 incomplete) were identified on the lateral cephalograms; therefore, the prevalence was 15.8%. The distribution of the type of ponticulus posticus was 13.1% in males and 17.9% in females in the studied sample. The overall prevalence of cervicogenic headache was 6% in the studied sample with a significant association between cervicogenic headache and type of ponticulus posticus. CONCLUSIONS: The study shows that ponticulus posticus is not a rare finding and its association with unexplainable headache, neck pain, and other symptoms as well as its importance and implications during management of cervical spine surgical procedures, especially those requiring lateral mass screw placements in the atlas, imply that radiologists and dentists in general should closely inspect the vertebral region on a lateral cephalogram.
[Mh] Termos MeSH primário: Atlas Cervical/anormalidades
Anormalidades Musculoesqueléticas/epidemiologia
Cefaleia Pós-Traumática/epidemiologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Atlas Cervical/diagnóstico por imagem
Criança
Feminino
Seres Humanos
Índia/epidemiologia
Masculino
Anormalidades Musculoesqueléticas/diagnóstico por imagem
Prevalência
Radiografia
Estudos Retrospectivos
Distribuição por Sexo
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170925
[Lr] Data última revisão:
170925
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170422
[St] Status:MEDLINE


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[PMID]:28420845
[Au] Autor:Yoshizawa T; Iwazaki M; Jitsuiki K; Ishikawa K; Ohsaka H; Yanagawa Y
[Ad] Endereço:Department of Acute Critical Care Medicine, Shizuoka Hospital, Juntendo University, Japan.
[Ti] Título:Suffocation due to Thoracic Deformity Caused by Acromegaly.
[So] Source:Intern Med;56(8):949-951, 2017.
[Is] ISSN:1349-7235
[Cp] País de publicação:Japan
[La] Idioma:eng
[Ab] Resumo:A 61-year-old man with gigantism and acromegaly choked and fell into a coma. Immediate tracheal intubation resulted in a return of his consciousness. Enhanced computed tomography indicated that the trachea and left main bronchus were compressed by the thoracic spine and sternum. He required tracheotomy and positive end-expiratory pressure to maintain his pulmonary function. This is the first case of suffocation due to a thoracic deformity associated with acromegaly. Physicians should focus on clearing the tracheal airway using computed tomography to elucidate the anatomical relationship between the trachea and surrounding structures in acromegalic patients suffering from dyspnea.
[Mh] Termos MeSH primário: Acromegalia/complicações
Obstrução das Vias Respiratórias/etiologia
Asfixia/etiologia
Anormalidades Musculoesqueléticas/complicações
Estenose Traqueal/etiologia
[Mh] Termos MeSH secundário: Brônquios/diagnóstico por imagem
Seres Humanos
Intubação Intratraqueal/efeitos adversos
Masculino
Meia-Idade
Esterno/anormalidades
Vértebras Torácicas/anormalidades
Tomografia Computadorizada por Raios X/efeitos adversos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170620
[Lr] Data última revisão:
170620
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170420
[St] Status:MEDLINE
[do] DOI:10.2169/internalmedicine.56.7615


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[PMID]:28380258
[Au] Autor:Tong Y; Park SH; Wu D; Xu W; Guillot SJ; Jin L; Li X; Wang Y; Lin CS; Fu Z
[Ad] Endereço:Department of Pharmacology, University of Virginia, Charlottesville, VA, USA.
[Ti] Título:An essential role of intestinal cell kinase in lung development is linked to the perinatal lethality of human ECO syndrome.
[So] Source:FEBS Lett;591(9):1247-1257, 2017 May.
[Is] ISSN:1873-3468
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Human endocrine-cerebro-osteodysplasia (ECO) syndrome, caused by the loss-of-function mutation R272Q in the intestinal cell kinase (ICK) gene, is a neonatal-lethal developmental disorder. To elucidate the molecular basis of ECO syndrome, we constructed an Ick R272Q knock-in mouse model that recapitulates ECO pathological phenotypes. Newborns bearing Ick R272Q homozygous mutations die at birth due to respiratory distress. Ick mutant lungs exhibit not only impaired branching morphogenesis associated with reduced mesenchymal proliferation but also significant airspace deficiency in primitive alveoli concomitant with abnormal interstitial mesenchymal differentiation. ICK dysfunction induces elongated primary cilia and perturbs ciliary Hedgehog signaling and autophagy during lung sacculation. Our study identifies an essential role for ICK in lung development and advances the mechanistic understanding of ECO syndrome.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/genética
Pulmão/metabolismo
Mutação
Proteínas Serina-Treonina Quinases/genética
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/enzimologia
Anormalidades Múltiplas/patologia
Animais
Animais Recém-Nascidos
Células Cultivadas
Córtex Cerebral/anormalidades
Córtex Cerebral/metabolismo
Cílios/metabolismo
Modelos Animais de Doenças
Sistema Endócrino/anormalidades
Sistema Endócrino/metabolismo
Regulação da Expressão Gênica no Desenvolvimento
Proteínas Hedgehog/genética
Proteínas Hedgehog/metabolismo
Seres Humanos
Immunoblotting
Pulmão/embriologia
Pulmão/enzimologia
Camundongos Endogâmicos C57BL
Camundongos Transgênicos
Anormalidades Musculoesqueléticas/genética
Proteínas Serina-Treonina Quinases/metabolismo
Reação em Cadeia da Polimerase Via Transcriptase Reversa
Síndrome
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Hedgehog Proteins); EC 2.7.11.1 (ICK protein, mouse); EC 2.7.11.1 (Protein-Serine-Threonine Kinases)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170918
[Lr] Data última revisão:
170918
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170406
[St] Status:MEDLINE
[do] DOI:10.1002/1873-3468.12644



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