Base de dados : MEDLINE
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[PMID]:28395407
[Au] Autor:Tian XL; Wang SB; Zheng SY; Li X; Xu KF
[Ad] Endereço:Department of Respiratory Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing 100730, China.
[Ti] Título:[The clinical characteristics of 17 cases of primary ciliary dyskinesia].
[So] Source:Zhonghua Jie He He Hu Xi Za Zhi;40(4):278-283, 2017 Apr 12.
[Is] ISSN:1001-0939
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:To review the clinical data of cases of primary ciliary dyskinesia (PCD), and to explore the clinical characteristics for the understanding of PCD. We retrospectively summarized 17 patients with PCD diagnosed in Peking Union Medical College Hospital from Jan 2009 to Dec 2014. There were 7 male and 10 female patients, with the age from 6 to 57 years at the time of diagnosis. The mean onset age of the disease was 11.7±2.1 years, and the mean age at diagnosis was 29.5±3.5 years. We analyzed their clinical symtoms, radiologic images, pulmonary function test and the electron microscopic findings for the clinical characteristics of PCD. The most common onset symptoms were cough (15/17) or sputum (13/17) among our 17 patients with PCD. Only 5 patients had situs inversus in our group. Sixteen patients had bronchiectasis on chest CT scan. Nasal sinusitis was confirmed by nasal CT scan in 15 patients. The most common pathogens from sputum cultures included aeruginosa, Haemophilus influenzea, Aspergillus fumigates and Candida (3/14 respectively). None of the patients had evidence of mycobacterial infection. Twelve patients underwent spirometry and obstructive pattern was the most common disorder (8/12). Diffusion impairment (5/10) and restrictive pattern dysfunction (3/10) were also present in our patients. Two patients had normal pulmonary function test results. Thirteen patients underwent bronchial mucosal ciliary electron microscopy and the most abnormalities were outer or inner dynein arms deficiency (8/13), and other abnormalities included microtubule arrangement disorder (3/13), reduction of the number of microtubules (3/13) and reduction of the number of dynein arms (2/13). Four of our patients had multiple dysfunctions on their ciliaries. PCD should be considered in bronchiectasis patients with disease onset at childhood even without situs inverse, especially those accompanied with nasal sinusitis or otitis media. Chest or paranasal sinus CT scan, and male sperm examination were helpful for the diagnosis. Mucosal ciliary electron microscopy was an efficient diagnostic method for PCD.
[Mh] Termos MeSH primário: Transtornos da Motilidade Ciliar/genética
Síndrome de Kartagener/diagnóstico
[Mh] Termos MeSH secundário: Adulto
Idade de Início
Dineínas do Axonema/genética
Dineínas do Axonema/metabolismo
Cílios/ultraestrutura
Transtornos da Motilidade Ciliar/diagnóstico
Tosse/etiologia
Feminino
Seres Humanos
Masculino
Microscopia Eletrônica
Meia-Idade
Nariz
Estudos Retrospectivos
Escarro
Tórax
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.6.4.2 (Axonemal Dyneins)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170908
[Lr] Data última revisão:
170908
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170412
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.1001-0939.2017.04.007


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[PMID]:28374938
[Au] Autor:Takenouchi T; Kuchikata T; Yoshihashi H; Fujiwara M; Uehara T; Miyama S; Yamada S; Kosaki K
[Ad] Endereço:Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
[Ti] Título:Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype.
[So] Source:Am J Med Genet A;173(5):1353-1357, 2017 May.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Among more than 5,000 human monogenic disorders with known causative genes, transposable element insertion of a Long Interspersed Nuclear Element 1 (LINE1, L1) is known as the mechanistic basis in only 13 genetic conditions. Meckel-Gruber syndrome is a rare ciliopathy characterized by occipital encephalocele and cystic kidney disease. Here, we document a boy with occipital encephalocele, post-axial polydactyly, and multicystic renal disease. A medical exome analysis detected a heterozygous frameshift mutation, c.4582_4583delCG p.(Arg1528Serfs*17) in CC2D2A in the maternally derived allele. The further use of a dedicated bioinformatics algorithm for detecting retrotransposon insertions led to the detection of an L1 insertion affecting exon 7 in the paternally derived allele. The complete sequencing and sequence homology analysis of the inserted L1 element showed that the L1 element was classified as L1HS (L1 human specific) and that the element had intact open reading frames in the two L1-encoded proteins. This observation ranks Meckel-Gruber syndrome as only the 14th disorder to be caused by an L1 insertion among more than 5,000 known human genetic disorders. Although a transposable element detection algorithm is not included in the current best-practice next-generation sequencing analysis, the present observation illustrates the utility of such an algorithm, which would require modest computational time and resources. Whether the seemingly infrequent recognition of L1 insertion in the pathogenesis of human genetic diseases might simply reflect a lack of appropriate detection methods remains to be seen.
[Mh] Termos MeSH primário: Transtornos da Motilidade Ciliar/genética
Ciliopatias/genética
Encefalocele/genética
Elementos Nucleotídeos Longos e Dispersos/genética
Doenças Renais Policísticas/genética
Proteínas/genética
[Mh] Termos MeSH secundário: Alelos
Pré-Escolar
Transtornos da Motilidade Ciliar/fisiopatologia
Ciliopatias/fisiopatologia
Biologia Computacional
Encefalocele/fisiopatologia
Exoma/genética
Mutação da Fase de Leitura
Heterozigoto
Seres Humanos
Doenças Renais Císticas/genética
Doenças Renais Císticas/fisiopatologia
Masculino
Doenças Renais Policísticas/fisiopatologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CC2D2A protein, human); 0 (Proteins)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170508
[Lr] Data última revisão:
170508
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170405
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.38167


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[PMID]:28291807
[Au] Autor:Goetz SC; Bangs F; Barrington CL; Katsanis N; Anderson KV
[Ad] Endereço:Program in Developmental Biology, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, 1275 York Ave. New York, United States of America.
[Ti] Título:The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling.
[So] Source:PLoS One;12(3):e0173399, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The importance of primary cilia in human health is underscored by the link between ciliary dysfunction and a group of primarily recessive genetic disorders with overlapping clinical features, now known as ciliopathies. Many of the proteins encoded by ciliopathy-associated genes are components of a handful of multi-protein complexes important for the transport of cargo to the basal body and/or into the cilium. A key question is whether different complexes cooperate in cilia formation, and whether they participate in cilium assembly in conjunction with intraflagellar transport (IFT) proteins. To examine how ciliopathy protein complexes might function together, we have analyzed double mutants of an allele of the Meckel syndrome (MKS) complex protein MKS1 and the BBSome protein BBS4. We find that Mks1; Bbs4 double mutant mouse embryos exhibit exacerbated defects in Hedgehog (Hh) dependent patterning compared to either single mutant, and die by E14.5. Cells from double mutant embryos exhibit a defect in the trafficking of ARL13B, a ciliary membrane protein, resulting in disrupted ciliary structure and signaling. We also examined the relationship between the MKS complex and IFT proteins by analyzing double mutant between Mks1 and a hypomorphic allele of the IFTB component Ift172. Despite each single mutant surviving until around birth, Mks1; Ift172avc1 double mutants die at mid-gestation, and exhibit a dramatic failure of cilia formation. We also find that Mks1 interacts genetically with an allele of Dync2h1, the IFT retrograde motor. Thus, we have demonstrated that the MKS transition zone complex cooperates with the BBSome to mediate trafficking of specific trans-membrane receptors to the cilium. Moreover, the genetic interaction of Mks1 with components of IFT machinery suggests that the transition zone complex facilitates IFT to promote cilium assembly and structure.
[Mh] Termos MeSH primário: Transtornos da Motilidade Ciliar/metabolismo
Encefalocele/metabolismo
Flagelos/metabolismo
Proteínas Hedgehog/metabolismo
Proteínas Associadas aos Microtúbulos/metabolismo
Doenças Renais Policísticas/metabolismo
Proteínas/fisiologia
[Mh] Termos MeSH secundário: Animais
Transporte Biológico
Células Cultivadas
Camundongos
Microscopia Eletrônica de Varredura
Microscopia de Fluorescência
Ligação Proteica
Proteínas/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BBS4 protein, mouse); 0 (Hedgehog Proteins); 0 (MKS1 protein, mouse); 0 (Microtubule-Associated Proteins); 0 (Proteins)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170908
[Lr] Data última revisão:
170908
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170315
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0173399


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[PMID]:28283827
[Au] Autor:Erger F; Brüchle NO; Gembruch U; Zerres K
[Ad] Endereço:Institute of Human Genetics, RWTH Aachen University Hospital, Pauwelsstr. 30, 52074, Aachen, Germany.
[Ti] Título:Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.
[So] Source:Arch Gynecol Obstet;295(4):897-906, 2017 Apr.
[Is] ISSN:1432-0711
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:PURPOSE: To investigate the sonographic and clinical genotype-phenotype correlations in autosomal recessive polycystic kidney disease (ARPKD) and other cystic kidney diseases (CKD) in a large cohort of prenatally detected fetuses with hereditary CKD. METHODS: We retrospectively studied the clinical and diagnostic data of 398 patients referred with prenatal ultrasound findings suggestive of CKD between 1994 and 2010. Cases with confirmed hereditary CKD (n = 130) were analyzed as to their prenatal ultrasound findings, genotype, and possible predictors of clinical outcome. RESULTS: ARPKD was most common in our non-representative sample. Truncating PKHD1 mutations led to a significantly reduced neonatal prognosis, with two such mutations being invariably lethal. Sonographically visible kidney cysts occurred in only 3% of ARPKD cases. Renal abnormalities in Meckel syndrome (MKS) appeared earlier than in ADPKD (19.6 ± 3.7 vs. 29.8 ± 5.1 GW) or ARPKD (19.6 ± 3.7 vs. 30.2 ± 1.2 GW). Additional CNS malformations were not found in ARPKD, but were highly sensitive for MKS. Pulmonary hypoplasia, oligo/anhydramnios (OAH), and kidney enlargement were associated with a significantly worse neonatal prognosis. CONCLUSION: Genotype, sonographic signs of OAH, enlarged kidney size, and pulmonary hypoplasia can be useful predictors of neonatal survival. We propose sonographic morphological criteria for ARPKD, ADPKD, MKS, and renal cyst and diabetes syndrome (RCAD). We further propose a clinical diagnostic algorithm for differentiating cystic kidney diseases.
[Mh] Termos MeSH primário: Estudos de Associação Genética
Rim Policístico Autossômico Recessivo/diagnóstico por imagem
[Mh] Termos MeSH secundário: Transtornos da Motilidade Ciliar/diagnóstico por imagem
Diagnóstico Diferencial
Encefalocele/diagnóstico por imagem
Feminino
Seres Humanos
Estimativa de Kaplan-Meier
Rim/anormalidades
Rim/diagnóstico por imagem
Masculino
Mutação
Doenças Renais Policísticas/diagnóstico por imagem
Rim Policístico Autossômico Recessivo/embriologia
Rim Policístico Autossômico Recessivo/genética
Prognóstico
Receptores de Superfície Celular/genética
Estudos Retrospectivos
Ultrassonografia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (PKHD1 protein, human); 0 (Receptors, Cell Surface)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170911
[Lr] Data última revisão:
170911
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170312
[St] Status:MEDLINE
[do] DOI:10.1007/s00404-017-4336-6


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[PMID]:28096734
[Au] Autor:Yang SY; Lee KS; Cha MJ; Kim TJ; Kim TS; Yoon HJ
[Ad] Endereço:Department of Radiology and Center for Imaging Science, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Korea.
[Ti] Título:Chest CT Features of Cystic Fibrosis in Korea: Comparison with Non-Cystic Fibrosis Diseases.
[So] Source:Korean J Radiol;18(1):260-267, 2017 Jan-Feb.
[Is] ISSN:2005-8330
[Cp] País de publicação:Korea (South)
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Cystic fibrosis (CF) is a rare congenital disease in Korea, and its clinical and imaging findings are unclear. The objective of our study was to describe the clinical and CT features of CF in Korea and compare its features with those of other diseases mimicking CF. MATERIALS AND METHODS: From November 1994 to December 2014, a presumptive diagnosis of CF was made in 23 patients based on clinical or radiological examination. After the exclusion of 10 patients without diagnostic confirmation, 13 patients were included in the study. A diagnosis of CF was made with the CF gene study. CT findings were evaluated for the presence and distribution of parenchymal abnormalities including bronchiectasis, tree-in-bud (TIB) pattern, mucus plugging, consolidation, and mosaic attenuation. RESULTS: Of the 13 patients, 7 (median age, 15 years) were confirmed as CF, 4 (median age, 19 years) had primary ciliary dyskinesia, 1 had bronchiectasis of unknown cause, and 1 had chronic asthma. CT of patients with CF showed bilateral bronchiectasis, TIB pattern, mosaic attenuation, and mucus plugging in all patients, with upper lung predominance (57%). In CT of the non-CF patients, bilateral bronchiectasis, TIB pattern, mosaic attenuation, and mucus plugging were also predominant features, with lower lung predominance (50%). CONCLUSION: Korean patients with CF showed bilateral bronchiectasis, cellular bronchiolitis, mucus plugging, and mosaic attenuation, which overlapped with those of non-CF patients. CF gene study is recommended for the definitive diagnosis of CF in patients with these clinical and imaging features.
[Mh] Termos MeSH primário: Fibrose Cística/diagnóstico
[Mh] Termos MeSH secundário: Adolescente
Adulto
Asma/diagnóstico
Asma/diagnóstico por imagem
Bronquiectasia/diagnóstico
Bronquiectasia/diagnóstico por imagem
Criança
Transtornos da Motilidade Ciliar/diagnóstico
Transtornos da Motilidade Ciliar/diagnóstico por imagem
Fibrose Cística/diagnóstico por imagem
Feminino
Seres Humanos
Masculino
República da Coreia
Tomografia Computadorizada por Raios X
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170119
[St] Status:MEDLINE
[do] DOI:10.3348/kjr.2017.18.1.260


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[PMID]:28041644
[Au] Autor:Paff T; Loges NT; Aprea I; Wu K; Bakey Z; Haarman EG; Daniels JM; Sistermans EA; Bogunovic N; Dougherty GW; Höben IM; Große-Onnebrink J; Matter A; Olbrich H; Werner C; Pals G; Schmidts M; Omran H; Micha D
[Ad] Endereço:Department of Pulmonary Diseases, VU University Medical Center, 1007 MB Amsterdam, the Netherlands; Department of Paediatric Pulmonology, VU University Medical Center, 1007 MB Amsterdam, the Netherlands; Department of Clinical Genetics, VU University Medical Center, 1007 MB Amsterdam, the Netherland
[Ti] Título:Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.
[So] Source:Am J Hum Genet;100(1):160-168, 2017 Jan 05.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Defects in motile cilia and sperm flagella cause primary ciliary dyskinesia (PCD), characterized by chronic airway disease, infertility, and left-right body axis disturbance. Here we report maternally inherited and de novo mutations in PIH1D3 in four men affected with PCD. PIH1D3 is located on the X chromosome and is involved in the preassembly of both outer (ODA) and inner (IDA) dynein arms of cilia and sperm flagella. Loss-of-function mutations in PIH1D3 lead to absent ODAs and reduced to absent IDAs, causing ciliary and flagellar immotility. Further, PIH1D3 interacts and co-precipitates with cytoplasmic ODA/IDA assembly factors DNAAF2 and DNAAF4. This result has clinical and genetic counseling implications for genetically unsolved male case subjects with a classic PCD phenotype that lack additional phenotypes such as intellectual disability or retinitis pigmentosa.
[Mh] Termos MeSH primário: Cílios/patologia
Transtornos da Motilidade Ciliar/genética
Dineínas/metabolismo
Genes Ligados ao Cromossomo X
Mutação/genética
Cauda do Espermatozoide/patologia
[Mh] Termos MeSH secundário: Cílios/metabolismo
Transtornos da Motilidade Ciliar/metabolismo
Transtornos da Motilidade Ciliar/patologia
Citoplasma/metabolismo
Feminino
Seres Humanos
Masculino
Linhagem
Fenótipo
Motilidade Espermática/genética
Cauda do Espermatozoide/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.6.4.2 (Dyneins)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170714
[Lr] Data última revisão:
170714
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170103
[St] Status:MEDLINE


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[PMID]:28029746
[Au] Autor:Boerwinkle C; Marshall JD; Bryant J; Gahl WA; Olivier KN; Gunay-Aygun M
[Ad] Endereço:National Institute of Allergy and Infectious Diseases, Bethesda, Maryland.
[Ti] Título:Respiratory manifestations in 38 patients with Alström syndrome.
[So] Source:Pediatr Pulmonol;52(4):487-493, 2017 Apr.
[Is] ISSN:1099-0496
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: Alström syndrome (AS) is a rare, multi-system condition characterized by retinal degeneration, sensorineural hearing loss, obesity, insulin-resistant diabetes, hypertriglyceridemia, cardiomyopathy, hepatorenal disease, and recurrent respiratory infections. It belongs to a group of genetic disorders known as primary ciliopathies, which includes autosomal dominant and recessive polycystic kidney diseases, as well as Joubert and Bardet-Biedl syndromes. Prior studies have suggested phenotypic overlap between primary ciliopathies affecting the non-motile, sensory cilia, and primary ciliary dyskinesia (PCD), a motile ciliopathy characterized by respiratory tract disease. METHODS: We describe the burden of oto-sino-pulmonary disease in 38 individuals with AS and examines the degree of clinical overlap between PCD and AS. Evaluation at the NIH Clinical Center included clinical examination, chest imaging, and clinical history surveys, as well as measurement of nasal nitric oxide (nNO) in nine patients. RESULTS: Recurrent otitis media was ubiquitous in the AS cohort (92%) with 50% requiring pressure equalization tube placement. A history of bronchitis/pneumonia and sinusitis was reported in 61% and 50% of individuals, respectively. PCD-characterizing symptoms (laterality defects, unexplained neonatal respiratory distress, year-round nasal congestion, and wet cough) were far less prevalent in the AS cohort compared to PCD, and the average nNO production in the AS cohort was 232 ± 57.1 nl/min compared to a cut-off of <77 nl/min for PCD. CONCLUSIONS: These data suggest that the oto-sino-respiratory complications in AS are prominent enough to warrant increased clinical attention, but significantly impaired respiratory cilia function as seen in PCD is unlikely in AS. (www.clinicaltrials.gov, trial NCT00068224) Pediatr Pulmonol. 2017;52:487-493. © 2016 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Síndrome de Alstrom/diagnóstico
[Mh] Termos MeSH secundário: Adolescente
Adulto
Fatores Etários
Síndrome de Alstrom/fisiopatologia
Criança
Pré-Escolar
Transtornos da Motilidade Ciliar/fisiopatologia
Tosse/fisiopatologia
Diagnóstico Diferencial
Feminino
Seres Humanos
Lactente
Masculino
National Institutes of Health (U.S.)
Prevalência
Índice de Gravidade de Doença
Estados Unidos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171010
[Lr] Data última revisão:
171010
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161229
[St] Status:MEDLINE
[do] DOI:10.1002/ppul.23607


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[PMID]:27312809
[Au] Autor:Adil EA; Kawai K; Dombrowski N; Irace AL; Cunningham MJ
[Ad] Endereço:Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, Massachusetts, U.S.A.
[Ti] Título:Nasal versus tracheobronchial biopsies to diagnose primary ciliary dyskinesia: A meta-analysis.
[So] Source:Laryngoscope;127(1):6-13, 2017 Jan.
[Is] ISSN:1531-4995
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES/HYPOTHESIS: To systematically review the literature regarding the efficacy of different biopsy sites and methods to obtain an adequate ciliary sample for ultrastructural examination with electron microscopy (EM) for the diagnosis of primary ciliary dyskinesia (PCD). STUDY DESIGN: Systematic review and meta-analysis. METHODS: A literature search was conducted with respect to the diagnosis of PCD. English studies with five or more subjects were included. Successful biopsy was defined as an adequate ciliary sample to make or exclude the diagnosis of PCD. RESULTS: Eight studies met inclusion criteria. These studies included 1,993 patients who underwent 2,299 ciliary biopsies. Included studies were level 3 or 4 evidence. The weighted pooled proportion of obtaining an adequate specimen from a nasal biopsy was 76% (95% confidence interval [CI], 64%-86%) versus 66% (95% CI, 62%-69%) for a tracheobronchial site (P = 0.10). The pooled proportion of obtaining an adequate sample was 68% for both brush and forceps biopsy groups (95% CI, 58%-77% and 54%-81%, respectively). Nasal scraping yielded a higher proportion of adequate specimens (pooled proportion of 92%; 95% CI, 82%-99%) than other techniques (P = 0.002). CONCLUSION: Tissue biopsy is one component of diagnosing PCD. We found no significant difference between biopsy sites in terms of obtaining an adequate ciliary sample for EM evaluation. This suggests that nasal biopsy should be preferred for patients old enough to tolerate an office biopsy without the need for general anesthesia. The merits of nasal versus tracheobronchial biopsy in the operating room depend more on the risks and benefits of the procedure being performed. LEVEL OF EVIDENCE: NA Laryngoscope, 127:6-13, 2017.
[Mh] Termos MeSH primário: Biópsia/métodos
Brônquios/patologia
Transtornos da Motilidade Ciliar/diagnóstico
Mucosa Nasal/patologia
Traqueia/patologia
[Mh] Termos MeSH secundário: Citodiagnóstico/métodos
Seres Humanos
Microscopia Eletrônica
[Pt] Tipo de publicação:JOURNAL ARTICLE; META-ANALYSIS; REVIEW
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170804
[Lr] Data última revisão:
170804
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160618
[St] Status:MEDLINE
[do] DOI:10.1002/lary.26070


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[PMID]:28154732
[Au] Autor:Itchimouh S; Khabtou K; Mahdaoui S; Boufettal H; Samouh N
[Ad] Endereço:Service de Gynécologie Obstétrique 'C', CHU Ibn Rochd, Casablanca, Maroc.
[Ti] Título:[Meckel Gruber syndrome: about a rare case].
[Ti] Título:Syndrome de Meckel Gruber: à propos d'un cas rare..
[So] Source:Pan Afr Med J;25:43, 2016.
[Is] ISSN:1937-8688
[Cp] País de publicação:Uganda
[La] Idioma:fre
[Ab] Resumo:Meckel Gruber syndrome is a rare autosomal recessive polymalformation syndrome characterized by occipital encephalocele, polydactyly and cystic renal dysplasia. Ultrasound is, at present, the best tool for prenatal screening of this lethal polymalformation and diagnosys is confirmed by karyotyping. We here report a case of Meckel Gruber syndrome detected by ultrasound. Abortion was performed at 25 weeks of amenorrhoea.
[Mh] Termos MeSH primário: Aborto Induzido
Transtornos da Motilidade Ciliar/diagnóstico por imagem
Encefalocele/diagnóstico por imagem
Doenças Renais Policísticas/diagnóstico por imagem
Ultrassonografia Pré-Natal/métodos
[Mh] Termos MeSH secundário: Feminino
Seres Humanos
Cariotipagem
Gravidez
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170322
[Lr] Data última revisão:
170322
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170204
[St] Status:MEDLINE
[do] DOI:10.11604/pamj.2016.25.43.9696


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[PMID]:27894351
[Au] Autor:Shaheen R; Szymanska K; Basu B; Patel N; Ewida N; Faqeih E; Al Hashem A; Derar N; Alsharif H; Aldahmesh MA; Alazami AM; Hashem M; Ibrahim N; Abdulwahab FM; Sonbul R; Alkuraya H; Alnemer M; Al Tala S; Al-Husain M; Morsy H; Seidahmed MZ; Meriki N; Al-Owain M; AlShahwan S; Tabarki B; Salih MA; Faquih T; El-Kalioby M; Ueffing M; Boldt K; Logan CV; Parry DA; Al Tassan N; Monies D; Megarbane A; Abouelhoda M; Halees A; Johnson CA; Alkuraya FS; Ciliopathy WorkingGroup
[Ad] Endereço:Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
[Ti] Título:Characterizing the morbid genome of ciliopathies.
[So] Source:Genome Biol;17(1):242, 2016 Nov 28.
[Is] ISSN:1474-760X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable progress has been made in understanding the molecular basis of these genetically heterogeneous conditions; however, our knowledge of their morbid genome, pleiotropy, and variable expressivity remains incomplete. RESULTS: We applied genomic approaches on a large patient cohort of 371 affected individuals from 265 families, with phenotypes that span the entire ciliopathy spectrum. Likely causal mutations in previously described ciliopathy genes were identified in 85% (225/265) of the families, adding 32 novel alleles. Consistent with a fully penetrant model for these genes, we found no significant difference in their "mutation load" beyond the causal variants between our ciliopathy cohort and a control non-ciliopathy cohort. Genomic analysis of our cohort further identified mutations in a novel morbid gene TXNDC15, encoding a thiol isomerase, based on independent loss of function mutations in individuals with a consistent ciliopathy phenotype (Meckel-Gruber syndrome) and a functional effect of its deficiency on ciliary signaling. Our study also highlighted seven novel candidate genes (TRAPPC3, EXOC3L2, FAM98C, C17orf61, LRRCC1, NEK4, and CELSR2) some of which have established links to ciliogenesis. Finally, we show that the morbid genome of ciliopathies encompasses many founder mutations, the combined carrier frequency of which accounts for a high disease burden in the study population. CONCLUSIONS: Our study increases our understanding of the morbid genome of ciliopathies. We also provide the strongest evidence, to date, in support of the classical Mendelian inheritance of Bardet-Biedl syndrome and other ciliopathies.
[Mh] Termos MeSH primário: Cílios/genética
Transtornos da Motilidade Ciliar/genética
Ciliopatias/genética
Encefalocele/genética
Mutação/genética
Doenças Renais Policísticas/genética
[Mh] Termos MeSH secundário: Alelos
Cílios/patologia
Transtornos da Motilidade Ciliar/patologia
Ciliopatias/patologia
Análise Mutacional de DNA
Encefalocele/patologia
Estudos de Associação Genética
Heterogeneidade Genética
Predisposição Genética para Doença
Seres Humanos
Fenótipo
Doenças Renais Policísticas/patologia
Retina/metabolismo
Retina/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161130
[St] Status:MEDLINE



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