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[PMID]:29191167
[Au] Autor:Broeckx BJG; Peelman L; Saunders JH; Deforce D; Clement L
[Ad] Endereço:Laboratory of Animal Genetics, Faculty of Veterinary Medicine, Ghent University, Heidestraat 19, B-9820, Merelbeke, Belgium. bart.broeckx@ugent.be.
[Ti] Título:Using variant databases for variant prioritization and to detect erroneous genotype-phenotype associations.
[So] Source:BMC Bioinformatics;18(1):535, 2017 Dec 01.
[Is] ISSN:1471-2105
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: In the search for novel causal mutations, public and/or private variant databases are nearly always used to facilitate the search as they result in a massive reduction of putative variants in one step. Practically, variant filtering is often done by either using all variants from the variant database (called the absence-approach, i.e. it is assumed that disease-causing variants do not reside in variant databases) or by using the subset of variants with an allelic frequency > 1% (called the 1%-approach). We investigate the validity of these two approaches in terms of false negatives (the true disease-causing variant does not pass all filters) and false positives (a harmless mutation passes all filters and is erroneously retained in the list of putative disease-causing variants) and compare it with an novel approach which we named the quantile-based approach. This approach applies variable instead of static frequency thresholds and the calculation of these thresholds is based on prior knowledge of disease prevalence, inheritance models, database size and database characteristics. RESULTS: Based on real-life data, we demonstrate that the quantile-based approach outperforms the absence-approach in terms of false negatives. At the same time, this quantile-based approach deals more appropriately with the variable allele frequencies of disease-causing alleles in variant databases relative to the 1%-approach and as such allows a better control of the number of false positives. We also introduce an alternative application for variant database usage and the quantile-based approach. If disease-causing variants in variant databases deviate substantially from theoretical expectancies calculated with the quantile-based approach, their association between genotype and phenotype had to be reconsidered in 12 out of 13 cases. CONCLUSIONS: We developed a novel method and demonstrated that this so-called quantile-based approach is a highly suitable method for variant filtering. In addition, the quantile-based approach can also be used for variant flagging. For user friendliness, lookup tables and easy-to-use R calculators are provided.
[Mh] Termos MeSH primário: Bases de Dados Genéticas
Estudos de Associação Genética
[Mh] Termos MeSH secundário: Alelos
Anormalidades Congênitas/genética
Anormalidades Congênitas/patologia
Frequência do Gene
Genótipo
Seres Humanos
Fenótipo
Polimorfismo de Nucleotídeo Único
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180306
[Lr] Data última revisão:
180306
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171202
[St] Status:MEDLINE
[do] DOI:10.1186/s12859-017-1951-y


  2 / 22930 MEDLINE  
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[PMID]:29489657
[Au] Autor:Liang K; Ou X; Huang X; Lan Q
[Ti] Título:Agenesis of the dorsal pancreas: a rare cause of insulin-dependent diabetes without abdominal pain: Case report.
[So] Source:Medicine (Baltimore);97(9):e0046, 2018 Mar.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONALE: Agenesis of the dorsal pancreas is a very rare condition with an unknown pathology and etiology, although it may be associated with autosomal dominant or X-linked dominant inheritance or retinoic acid and hedgehog signaling pathway alterations. This condition usually manifests with abdominal pain or pancreatitis, although some cases are asymptomatic. Approximately 50% of affected patients with this disorder present with hyperglycemia or various other anomalies. PATIENT CONCERNS: We report the case of a 23-year-old Chinese woman who visited the Department of Endocrinology and Metabolism with insulin-dependent diabetes but no specific symptoms, signs, or other deformities. Severe diabetic retinopathy indicated a long period of hyperglycemia. DIAGNOSIS: Agenesis of the dorsal pancreas was observed incidentally during the common diagnosis of diabetes, and the diagnosis was established using magnetic resonance imaging, diffusion-weighted imaging, and magnetic resonance cholangiopancreatography. INTERVENTIONS: Following the diagnosis of diabetes, insulin replacement therapy was initiated at a dosage of up to 45 U per day. The patient's blood glucose level was monitored, and the insulin dosage was adjusted accordingly. OUTCOMES: The patient's blood glucose levels gradually normalized after insulin treatment and were subsequently maintained with intensive insulin therapy. Treatment for diabetic retinopathy was provided by the Ophthalmology Department. LESSONS: Agenesis of the dorsal pancreas should be considered in a young patient diagnosed with diabetes who presents with obvious diabetes-related complications (e.g., renal, retinal, or neurological) inconsistent with the course of the disease or a history of other congenital anomalies. We recommend the routine use of computed tomography or magnetic resonance imaging when examining young patients with diabetes.
[Mh] Termos MeSH primário: Anormalidades Congênitas
Diabetes Mellitus Tipo 1/etiologia
Pâncreas/anormalidades
[Mh] Termos MeSH secundário: Dor Abdominal
Doenças Assintomáticas
Colangiopancreatografia por Ressonância Magnética
Anormalidades Congênitas/diagnóstico por imagem
Diabetes Mellitus Tipo 1/tratamento farmacológico
Imagem de Difusão por Ressonância Magnética
Feminino
Seres Humanos
Hiperglicemia/etiologia
Hipoglicemiantes/uso terapêutico
Insulina/uso terapêutico
Angiografia por Ressonância Magnética
Pâncreas/diagnóstico por imagem
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Hypoglycemic Agents); 0 (Insulin)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180305
[Lr] Data última revisão:
180305
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180301
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000010046


  3 / 22930 MEDLINE  
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[PMID]:29424986
[Au] Autor:Korsakov AV; Yablokov AV; Geger EV; Pugach LI
[Ti] Título:[Comparative evaluation of the prevalence of congenital malformations de novo in newborns from radiation-contaminated territories of the Bryansk region (1999-2014)].
[So] Source:Gig Sanit;95(7):607-13, 2016.
[Is] ISSN:0016-9900
[Cp] País de publicação:Russia (Federation)
[La] Idioma:rus
[Ab] Resumo:On the basis of official statistics for 1999-2014 there was performed the comparative evaluation of the prevalence of congenital malformations de novo: polydactyly, reduction limb defects and multiple congenital malformations in newborns of radiation-contaminated areas of the Bryansk area residing in areas with the various density of radioactive contamination by long lived radionuclides cesium-137 (from 10.0 to 2523.4 kBq/m) and strontium-90 (from 0.7 to 42.5 kBq/m). The findings showed no statistically significant differences in the prevalence of polydactyly, reduction limb defects and multiple congenital malformations in newborns in the South-Western areas compared to medium regional values, although the maximum value of the amount of congenital malformations de novo is found in most radiation-contaminated areas.
[Mh] Termos MeSH primário: Anormalidades Congênitas/epidemiologia
Exposição Ambiental/efeitos adversos
Liberação Nociva de Radioativos/estatística & dados numéricos
[Mh] Termos MeSH secundário: Radioisótopos de Césio/análise
Feminino
Seres Humanos
Recém-Nascido
Masculino
Prevalência
Federação Russa/epidemiologia
Radioisótopos de Estrôncio/análise
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cesium Radioisotopes); 0 (Strontium Radioisotopes)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180301
[Lr] Data última revisão:
180301
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180210
[St] Status:MEDLINE


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[PMID]:29370151
[Au] Autor:Delaney A; Mai C; Smoots A; Cragan J; Ellington S; Langlois P; Breidenbach R; Fornoff J; Dunn J; Yazdy M; Scotto-Rosato N; Sweatlock J; Fox D; Palacios J; Forestieri N; Leedom V; Smiley M; Nance A; Lake-Burger H; Romitti P; Fall C; Prado MV; Barton J; Bryan JM; Arias W; Brown SV; Kimura J; Mann S; Martin B; Orantes L; Taylor A; Nahabedian J; Akosa A; Song Z; Martin S; Ramlal R; Shapiro-Mendoza C; Isenburg J; Moore CA; Gilboa S; Honein MA
[Ti] Título:Population-Based Surveillance of Birth Defects Potentially Related to Zika Virus Infection - 15 States and U.S. Territories, 2016.
[So] Source:MMWR Morb Mortal Wkly Rep;67(3):91-96, 2018 Jan 26.
[Is] ISSN:1545-861X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Zika virus infection during pregnancy can cause serious birth defects, including microcephaly and brain abnormalities (1). Population-based birth defects surveillance systems are critical to monitor all infants and fetuses with birth defects potentially related to Zika virus infection, regardless of known exposure or laboratory evidence of Zika virus infection during pregnancy. CDC analyzed data from 15 U.S. jurisdictions conducting population-based surveillance for birth defects potentially related to Zika virus infection.* Jurisdictions were stratified into the following three groups: those with 1) documented local transmission of Zika virus during 2016; 2) one or more cases of confirmed, symptomatic, travel-associated Zika virus disease reported to CDC per 100,000 residents; and 3) less than one case of confirmed, symptomatic, travel-associated Zika virus disease reported to CDC per 100,000 residents. A total of 2,962 infants and fetuses (3.0 per 1,000 live births; 95% confidence interval [CI] = 2.9-3.2) (2) met the case definition. In areas with local transmission there was a non-statistically significant increase in total birth defects potentially related to Zika virus infection from 2.8 cases per 1,000 live births in the first half of 2016 to 3.0 cases in the second half (p = 0.10). However, when neural tube defects and other early brain malformations (NTDs) were excluded, the prevalence of birth defects strongly linked to congenital Zika virus infection increased significantly, from 2.0 cases per 1,000 live births in the first half of 2016 to 2.4 cases in the second half, an increase of 29 more cases than expected (p = 0.009). These findings underscore the importance of surveillance for birth defects potentially related to Zika virus infection and the need for continued monitoring in areas at risk for Zika.
[Mh] Termos MeSH primário: Anormalidades Congênitas/epidemiologia
Anormalidades Congênitas/virologia
Vigilância da População
Infecção pelo Zika virus/complicações
[Mh] Termos MeSH secundário: Feminino
Seres Humanos
Lactente
Recém-Nascido
Gravidez
Complicações Infecciosas na Gravidez/virologia
Prevalência
Porto Rico/epidemiologia
Estados Unidos/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180222
[Lr] Data última revisão:
180222
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180126
[St] Status:MEDLINE
[do] DOI:10.15585/mmwr.mm6703a2


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[PMID]:29291277
[Au] Autor:Ahmad I; Kirby P; Liming B
[Ad] Endereço:1 Division of Pediatric Otolaryngology, Department of Otolaryngology-Head and Neck Surgery, Stanford University, Palo Alto, California, USA.
[Ti] Título:Ectopic Thymic Cyst of the Subglottis: Considerations for Diagnosis and Management.
[So] Source:Ann Otol Rhinol Laryngol;127(3):200-204, 2018 Mar.
[Is] ISSN:1943-572X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: To share the diagnostic and management challenges created by an extremely rare airway lesion-the subglottic ectopic thymic cyst. STUDY DESIGN: Case report and literature review. METHODS: We review the presentation, management, and clinical course of an infant who presented with a subglottic mass that was histologically confirmed as a thymic cyst. A brief literature review supplements the case presentation Results: We present the third described case of an ectopic thymic cyst presenting as a subglottic mass. The differential diagnosis of subglottic masses in neonates consists primarily of subglottic hemangioma and mucous retention cysts. Otolaryngologists must be prepared for unexpected findings when dealing with critical airways. We compare the presentation and management of our patient with the 2 previously described cases. We propose an embryologic theory for the origin of these rare lesions. CONCLUSIONS: An ectopic thymic cyst is a rare and unexpected cause of neonatal stridor. Management of pediatric airway lesions must allow for unexpected findings at the time of diagnostic and therapeutic endoscopy. The appropriate management of subglottic thymic cysts is poorly defined, but close surveillance for recurrence is mandatory.
[Mh] Termos MeSH primário: Anormalidades Congênitas/diagnóstico
Doenças da Laringe
Laringoscopia/métodos
Laringe/anormalidades
Cisto Mediastínico
Sons Respiratórios/diagnóstico
[Mh] Termos MeSH secundário: Coristoma
Anormalidades Congênitas/etiologia
Diagnóstico Diferencial
Seres Humanos
Lactente
Doenças da Laringe/diagnóstico
Doenças da Laringe/fisiopatologia
Masculino
Sons Respiratórios/etiologia
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180221
[Lr] Data última revisão:
180221
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180102
[St] Status:MEDLINE
[do] DOI:10.1177/0003489417749609


  6 / 22930 MEDLINE  
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[PMID]:29308857
[Au] Autor:Nizyaeva NV; Sukhacheva TV; Kulikova GV; Nagovitsyna MN; Kan NE; Baev OR; Pavlovich SV; Serov RA; Shchegolev AI; Poltavtseva RA
[Ti] Título:Morphological Features of Mesenhymal Stroma Cells of Chorionic Villi.
[So] Source:Vestn Ross Akad Med Nauk;72(1):76-83, 2017.
[Is] ISSN:0869-6047
[Cp] País de publicação:Russia (Federation)
[La] Idioma:eng
[Ab] Resumo:Background: Nowadays autologous mesenchymal placental stromal cells (MSCs) may use to treat for various diseases both of the mother and the child. Stroma of the placenta villi is appropriated origin for cell culture isolation. Aim: of the study was to evaluate the possibility for selection and use of placental tissue for mesenchymal stromal cells. Materials and methods: The present study was based on 45 placental samples of women aged 27−38 yy. who underwent surgical delivery at 36−40 weeks of gestation. 30 of these women have been enrolled in the basic group including children with congenital abnormalities (CA). The comparison group consisted of 15 patients with physiological pregnancy. We performed histological examination (with hematoxylin and eosin staining), immunohistochemical examination (with use monoclonal antibodies CD90 (1:25; Abcam, UK), СD105 (1:500; Abcam, UK), CD44 (1:25; Dako), СD73 (1:200, Abcam, UK), and electron microscopy (by microscope Philips/FEI Corporation, Eindhoven, Holland). Eclipse 80i microscope (Nikon Corporation, Japan) was used to examine the immunohistochemical reactions as a brown staining. The evaluation of the intensity of reaction was conducted by NIS-Elements Advanced Research 3.2 program (Czech Republic). Student's t-test and analysis of variance were used to compare the mean values. Differences were considered statistically significant at p<0.05. Results: Interstitial cells of the stroma of the villi with CA had fibroblastic differentiation as revealed degenerative changes of the cells. The histologic examination with hematoxylin and eosin staining revealed significant fibrosis of the stroma of the placenta villi in CA group (p<0,01). Immunohistochemical study of stem and intermediate chorionic villi revealed no significant differences in staining of CD44+, СD90+, СD73+, and CD105+ cells if compared to the control group (p>0.05). Although CD105 expression was significantly lower in the CA group (0.058±0.0049) than in the control group (0.088±0.0039) (p<0.05). However, electron microscopy detected the villi interstitial stromal cells with fibroblastic differentiation in CA group. Conclusions: Thus, it is necessary to exclude placenta with obstetrical history, somatic, and congenital pathology of the mother and the child when selecting the placental cell culture. Moreover, choosing a sample the morphological structure of the placenta should be taken into consideration. However, congenital malformations of the fetus, pathology of the mother cultivate mesenchymal stromal cells of placentas is inappropriate and should be taken advantage of the donor cells.
[Mh] Termos MeSH primário: Vilosidades Coriônicas
Anormalidades Congênitas/diagnóstico
Seleção do Doador/métodos
Células Mesenquimais Estromais
Placenta/patologia
[Mh] Termos MeSH secundário: Adulto
Técnicas de Cultura de Células/métodos
Vilosidades Coriônicas/diagnóstico por imagem
Vilosidades Coriônicas/patologia
Amostra da Vilosidade Coriônica/métodos
Feminino
Fibrose
Seres Humanos
Imuno-Histoquímica
Transplante de Células-Tronco Mesenquimais/métodos
Células Mesenquimais Estromais/patologia
Microscopia Eletrônica/métodos
Gravidez
Estatística como Assunto
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180220
[Lr] Data última revisão:
180220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180109
[St] Status:MEDLINE
[do] DOI:10.15690/vramn767


  7 / 22930 MEDLINE  
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[PMID]:29365373
[Au] Autor:Chen C; Tan LT; Xu ZM
[Ad] Endereço:Department of Otorhinolaryngology Head and Neck Surgery, Children's Hospital of Fudan University, 201102 Shanghai, China.
[Ti] Título:[Evaluation and treatment of children's laryngeal clefts].
[So] Source:Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi;53(1):9-15, 2018 Jan 07.
[Is] ISSN:1673-0860
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:To provide the experience about the diagnostic process and following management, and to discuss the outcome and predictors in children with laryngeal cleft (LC). A retrospective case study was conducted at an academic children's hospital. Thirty children were diagnosed as laryngeal cleft between January 2016 and April 2017.Airway evaluations were performed using both flexible and rigid endoscopy, and swallowing evaluations were performed using fiberoptic endoscopic examination of swallowing or modified barium swallow. Of 30 cases, 18 were male and 12 were female, ranging in age from birth to 8 years. Two cases were diagnosed as type 0 LC, and they were offered thickened liquid without medication. Throughout follow-up, they remained asymptomatic and showed no respiratory complications. Nineteen children were diagnosed as type â…  LC. Six of them were significantly improved by anti-reflux therapy and feeding instructions. Four children were concomitant with swallowing dysfunction and/or neuromuscular disorders, and they were given a tracheotomy and routine management. Another 4 children were submitted surgical repair when routine treatment failed, and their symptoms were relieved. Five children were concomitant with larygomalacia, and their symptoms were totally ameliorated by supraglottoplasty. Three children were diagnosed as type â…¡ LC. Two of them received surgical repair and clinically improved, and the rest one was treated by anti-reflux therapy and still under follow-up. Three children were diagnosed as type â…¢ LC. One of them was underwent surgical repair and clinically improved. Two children were tracheotomized and treated by anti-reflux therapy. Three cases were diagnosed as type â…£ LC at birth and no one survived. Laryngeal cleft is a rare congenital anomaly manifesting with a variety of symptoms, including swallowing disorder, aspirations, dyspnea, stridor and hoarseness. Diagnosis and treatment of laryngeal clefts is a challenge. The best way to evaluate the LC is FEES by laryngeal endoscopy combined with MLB. Cases with type 0-â…  mostly were significantly improved by anti-reflux therapy and feeding instructions. When routine treatment failed, surgical repair is needed. All the cases with LC type â…¡-â…¢ need surgical repair as soon as possible. For type â…£ cases, early diagnosis, appropriate treatment and management help to reduce mortality and morbidity.
[Mh] Termos MeSH primário: Anormalidades Congênitas/diagnóstico
Anormalidades Congênitas/terapia
Refluxo Gastroesofágico/terapia
Laringe/anormalidades
[Mh] Termos MeSH secundário: Criança
Pré-Escolar
Transtornos de Deglutição/etiologia
Feminino
Fluoroscopia
Refluxo Gastroesofágico/etiologia
Rouquidão/etiologia
Seres Humanos
Lactente
Recém-Nascido
Laringoscopia
Masculino
Sons Respiratórios/etiologia
Estudos Retrospectivos
Traqueotomia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180215
[Lr] Data última revisão:
180215
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180125
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.1673-0860.2018.01.003


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[PMID]:28459979
[Au] Autor:Whitman MC; Engle EC
[Ad] Endereço:F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.
[Ti] Título:Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance.
[So] Source:Hum Mol Genet;26(R1):R37-R44, 2017 08 01.
[Is] ISSN:1460-2083
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Unraveling the genetics of the paralytic strabismus syndromes known as congenital cranial dysinnervation disorders (CCDDs) is both informing physicians and their patients and broadening our understanding of development of the ocular motor system. Genetic mutations underlying ocular CCDDs alter either motor neuron specification or motor nerve development, and highlight the importance of modulations of cell signaling, cytoskeletal transport, and microtubule dynamics for axon growth and guidance. Here we review recent advances in our understanding of two CCDDs, congenital fibrosis of the extraocular muscles (CFEOM) and Duane retraction syndrome (DRS), and discuss what they have taught us about mechanisms of axon guidance and selective vulnerability. CFEOM presents with congenital ptosis and restricted eye movements, and can be caused by heterozygous missense mutations in the kinesin motor protein KIF21A or in the ß-tubulin isotypes TUBB3 or TUBB2B. CFEOM-causing mutations in these genes alter protein function and result in axon growth and guidance defects. DRS presents with inability to abduct one or both eyes. It can be caused by decreased function of several transcription factors critical for abducens motor neuron identity, including MAFB, or by heterozygous missense mutations in CHN1, which encodes α2-chimaerin, a Rac-GAP GTPase that affects cytoskeletal dynamics. Examination of the orbital innervation in mice lacking Mafb has established that the stereotypical misinnervation of the lateral rectus by fibers of the oculomotor nerve in DRS is secondary to absence of the abducens nerve. Studies of a CHN1 mouse model have begun to elucidate mechanisms of selective vulnerability in the nervous system.
[Mh] Termos MeSH primário: Axônios/fisiologia
Síndrome da Retração Ocular/genética
Fibrose/genética
Oftalmoplegia/genética
[Mh] Termos MeSH secundário: Animais
Axônios/metabolismo
Anormalidades Congênitas
Síndrome da Retração Ocular/metabolismo
Síndrome da Retração Ocular/patologia
Oftalmopatias Hereditárias/genética
Fibrose/metabolismo
Fibrose/patologia
Seres Humanos
Cinesina/genética
Cinesina/metabolismo
Camundongos
Mutação
Mutação de Sentido Incorreto
Transtornos da Motilidade Ocular/genética
Músculos Oculomotores/anormalidades
Músculos Oculomotores/patologia
Oftalmoplegia/metabolismo
Oftalmoplegia/patologia
Crânio/fisiopatologia
Tubulina (Proteína)/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (KIF21A protein, human); 0 (TUBB3 protein, human); 0 (Tubulin); EC 3.6.4.4 (Kinesin)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:180214
[Lr] Data última revisão:
180214
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170502
[St] Status:MEDLINE
[do] DOI:10.1093/hmg/ddx168


  9 / 22930 MEDLINE  
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[PMID]:27771789
[Au] Autor:Rajinda P; Towiwat S; Chirappapha P
[Ad] Endereço:Department of Orthopaedic Surgery, Sunpasitthiprasong Hospital, Muang, Ubonratchathani, 34000, Thailand. rpanupol@gmail.com.
[Ti] Título:Comparison of outcomes after atlantoaxial fusion with C1 lateral mass-C2 pedicle screws and C1-C2 transarticular screws.
[So] Source:Eur Spine J;26(4):1064-1072, 2017 Apr.
[Is] ISSN:1432-0932
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:PURPOSE: To compare the clinical and radiological outcomes of posterior atlantoaxial fixation and fusion using C1 lateral mass-C2 pedicle screws (screw-rod constructs, SRC) with C1-C2 transarticular screws (TAS). METHODS: A retrospective review was conducted of 105 patients with atlantoaxial instability who underwent posterior C1-C2 fixation and fusion by SRC group (60 pt) and TAS group (45 pt). The follow-up period was minimum 2 years. Clinical outcomes measurements included the Numeric Rating Scale (NRS) for pain assessment, the Neck Disability Index (NDI), the Japanese Orthopedic Association (JOA) score and the American Spinal Injury Association (ASIA) impairment scale for the functional and neurological outcomes that were assessed. Radiological outcomes were assessed by evaluating the fusion rate and proper screws position. Both outcomes were evaluated in the early postoperative period, 3, 6, 12 and 24 months after surgery. Operative time, estimated blood loss, complications and length of stay were also reviewed. RESULTS: The majority of cases were caused by trauma and presented with axial neck pain. The improvement of NRS, NDI, JOA score and ASIA impairment scale were not different between the two groups. Proper screw position and fusion rate were also observed similarly between the two groups. Estimated blood loss was lesser and operative time was shorter in TAS group than SRC group (p = 0.047, p = 0.001, respectively). Operative complications and the length of hospital stay were also not different between the two groups. CONCLUSION: Both SRC and TAS produced excellent outcomes for atlantoaxial stabilization. But the volume of bleeding and operation time tended to be better in TAS group compared to SRC group.
[Mh] Termos MeSH primário: Articulação Atlantoaxial/anormalidades
Vértebras Cervicais/cirurgia
Anormalidades Congênitas/cirurgia
Procedimentos Ortopédicos
Parafusos Pediculares
[Mh] Termos MeSH secundário: Articulação Atlantoaxial/cirurgia
Seres Humanos
Procedimentos Ortopédicos/efeitos adversos
Procedimentos Ortopédicos/métodos
Estudos Retrospectivos
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180119
[Lr] Data última revisão:
180119
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161025
[St] Status:MEDLINE
[do] DOI:10.1007/s00586-016-4829-1


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[PMID]:29287871
[Au] Autor:Wertz A; Ha JF; Driver LE; Zopf DA
[Ad] Endereço:Department of Otolaryngology - Head & Neck Surgery, University of Michigan Health System, C.S. Mott Children's Hospital, 1540 East Hospital Drive, Ann Arbor, MI 48109, United States. Electronic address: aileen.wertz@gmail.com.
[Ti] Título:Pediatric laryngeal cleft repair and dysphagia.
[So] Source:Int J Pediatr Otorhinolaryngol;104:216-219, 2018 Jan.
[Is] ISSN:1872-8464
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To describe changes in diet and swallow function in patients with a laryngeal cleft after surgical repair of the laryngeal cleft. METHODS: Retrospective case series performed using chart review. Primary outcomes were diet and swallow function before and after laryngeal cleft repair. Clinical evaluation and video fluoroscopic swallow studies (VFSS) were used to assess pre- and post intervention swallowing. RESULTS: 16 pediatric patients were included in this study. Preoperatively, 14 (88%) patients had diet restrictions. Postoperatively, 12 (75%) patients tolerated a regular diet without limitation. 4 (25%) patients had no reduction in diet restrictions over the course of this study. For the 10 patients who transitioned to a regular diet postoperatively, a median of 300 days (range: 26 days - 3 years) passed to document achieving a regular diet. This was corroborated by an increase in normal oral and pharyngeal phase swallow function on VFSS postoperatively when compared with preoperative VFSS results. CONCLUSION: Dysphagia improves in most patients after laryngeal cleft repair. The range in time to a normal diet was wide. This may facilitate improved preoperative counseling and preparation of families' expectations.
[Mh] Termos MeSH primário: Anormalidades Congênitas/cirurgia
Transtornos de Deglutição/cirurgia
Deglutição/fisiologia
Laringe/anormalidades
[Mh] Termos MeSH secundário: Criança
Pré-Escolar
Dieta
Feminino
Fluoroscopia
Seres Humanos
Lactente
Laringe/cirurgia
Masculino
Período Pós-Operatório
Estudos Retrospectivos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180116
[Lr] Data última revisão:
180116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171231
[St] Status:MEDLINE



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