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[PMID]: 23002079 [Au] Autor: Rosa RF; Rosa RC; Lorenzen MB; Zen PR; Oliveira CA; Graziadio C; Paskulin GA [Ad] Dirección: Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil. [Ti] Título: Limb abnormalities on trisomy 18: evidence for early diagnosis. [So] Fuente: J Pediatr (Rio J);88(5):401-5, 2012 Sep-Oct. [Is] ISSN: 1678-4782 [Cp] País de publicación: Brazil [La] Idioma: eng; por [Ab] Resumen: OBJECTIVE: To assess the frequency and types of limb abnormalities observed among patients with trisomy 18, or Edwards syndrome (ES). METHOD: The sample consisted of consecutive patients evaluated by a clinical genetics service in the period from 1975 to 2008. The results of the cytogenetic analysis, as well as the clinical data were retrieved from the medical records, with special attention to limb abnormalities findings. All the karyotype analysis was performed at the same laboratory. RESULTS: During the study period, 50 patients were identified, 33 (66%) of them females, with ages at the first evaluation ranging from 1 day to 16 years (median 14 days). The single lineage with free trisomy 18 was the most frequent chromosomal disorder (90%). Mosaicism was observed in 10% of the cases. Clenched fist with overlapping fingers was the predominant anomaly of the upper limbs (70%). Other common disorders included the single palmar crease (42%) and hypoplastic nails (36%). Radial abnormalities were found in 11 patients (22%). As for the lower limbs, hypoplastic nails were the most common abnormality (58%), followed by the rocker bottom foot with prominent calcaneus (50%). One patient had unilateral ectrodactyly as well. CONCLUSIONS: Despite the classical description, limb anomalies can be much variable in ES. Some patients may show unusual abnormalities, such as radial defects and ectrodactyly. These findings are extremely important for the clinical suspicion and early identification of patients with ES. [Mh] Términos MeSH primario: Cromosomas Humanos Par 18/genética Deformidades Congénitas de las Extremidades/diagnóstico Deformidades Congénitas de las Extremidades/genética Deformidades Congénitas de las Extremidades Inferiores/diagnóstico Trisomía/diagnóstico Deformidades Congénitas de las Extremidades Superiores/diagnóstico [Mh] Términos MeSH secundario: Adolescente Niño Preescolar Diagnóstico Precoz Femenino Dedos/anomalías Humanos Lactante Recién Nacido Cariotipificación Deformidades Congénitas de las Extremidades Inferiores/genética Masculino Mosaicismo Estudios Retrospectivos Trisomía/genética Deformidades Congénitas de las Extremidades Superiores/genética [Pt] Tipo de publicación: JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T [Em] Mes de ingreso: 1305 [Sb] Subgrupo de revista: IM [Da] Fecha de ingreso para procesamiento: 121024 [St] Status: MEDLINE [do] DOI: doi:10.2223/JPED.2212

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[PMID]: 22333898 [Au] Autor: Patel C; Silcock L; McMullan D; Brueton L; Cox H [Ad] Dirección: Department of Clinical Genetics, Birmingham Women's NHS Foundation Trust, Birmingham, UK. [Ti] Título: TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype. [So] Fuente: Eur J Hum Genet;20(8):863-9, 2012 Aug. [Is] ISSN: 1476-5438 [Cp] País de publicación: England [La] Idioma: eng [Ab] Resumen: Holt-Oram syndrome (HOS) is a rare autosomal dominant heart-hand syndrome due to mutations in the TBX5 transcription factor. Affected individuals can have structural cardiac defects and/or conduction abnormalities, and exclusively upper limb defects (typically bilateral, asymmetrical radial ray defects). TBX5 mutations reported include nonsense, missense, splicing mutations and exon deletions. Most result in a null allele and haploinsufficiency, but some impair nuclear localisation of TBX5 protein or disrupt its interaction with co-factors and downstream targets. We present a five generation family of nine affected individuals with an atypical HOS phenotype, consisting of ulnar ray defects (ulnar hypoplasia, short fifth fingers with clinodactyly) and very mild radial ray defects (short thumbs, bowing of the radius and dislocation of the radial head). The cardiac defects seen are those more rarely reported in HOS (atrioventricular septal defect, hypoplastic left heart syndrome, mitral valve disease and pulmonary stenosis). Conduction abnormalities include atrial fibrillation, atrial flutter and sick sinus syndrome. TBX5 mutation screening (exons 3-10) identified no mutations. Array comparative genomic hybridisation (CGH) revealed a 48 kb duplication at 12q24.21, encompassing exons 2-9 of the TBX5 gene, with breakpoints within introns 1-2 and 9-10. The duplication segregates with the phenotype in the family, and is likely to be pathogenic. This is the first known report of an intragenic duplication of TBX5 and its clinical effects; an atypical HOS phenotype. Further functional studies are needed to establish the effects of the duplication and pathogenic mechanism. All typical/atypical HOS cases should be screened for TBX5 exon duplications. [Mh] Términos MeSH primario: Anomalías Múltiples/genética Familia Duplicación de Gen Cardiopatías Congénitas/genética Defectos del Tabique Interatrial/genética Deformidades Congénitas de las Extremidades Inferiores/genética Fenotipo Proteínas de Dominio T Box/genética Deformidades Congénitas de las Extremidades Superiores/genética [Mh] Términos MeSH secundario: Anomalías Múltiples/diagnóstico Adulto Cromosomas Humanos Par 12 Hibridación Genómica Comparativa Biología Computacional/métodos Variaciones en el Número de Copia de ADN Femenino Cardiopatías Congénitas/diagnóstico Defectos del Tabique Interatrial/diagnóstico Humanos Deformidades Congénitas de las Extremidades Inferiores/diagnóstico Masculino Deformidades Congénitas de las Extremidades Superiores/diagnóstico Adulto Joven [Pt] Tipo de publicación: CASE REPORTS; JOURNAL ARTICLE [Nm] Nombre de substancia: 0 (T-Box Domain Proteins); 0 (T-box transcription factor 5) [Em] Mes de ingreso: 1211 [Cu] Fecha actualización por clase: 130416 [Lr] Fecha última revisión: 130416 [Sb] Subgrupo de revista: IM [Da] Fecha de ingreso para procesamiento: 120719 [St] Status: MEDLINE [do] DOI: 10.1038/ejhg.2012.16

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[PMID]: 22543974 [Au] Autor: Smemo S; Campos LC; Moskowitz IP; Krieger JE; Pereira AC; Nobrega MA [Ad] Dirección: Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA. [Ti] Título: Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease. [So] Fuente: Hum Mol Genet;21(14):3255-63, 2012 Jul 15. [Is] ISSN: 1460-2083 [Cp] País de publicación: England [La] Idioma: eng [Ab] Resumen: Recent studies have identified the genetic underpinnings of a growing number of diseases through targeted exome sequencing. However, this strategy ignores the large component of the genome that does not code for proteins, but is nonetheless biologically functional. To address the possible involvement of regulatory variation in congenital heart diseases (CHDs), we searched for regulatory mutations impacting the activity of TBX5, a dosage-dependent transcription factor with well-defined roles in the heart and limb development that has been associated with the Holt-Oram syndrome (heart-hand syndrome), a condition that affects 1/100 000 newborns. Using a combination of genomics, bioinformatics and mouse genetic engineering, we scanned ∼700 kb of the TBX5 locus in search of cis-regulatory elements. We uncovered three enhancers that collectively recapitulate the endogenous expression pattern of TBX5 in the developing heart. We re-sequenced these enhancer elements in a cohort of non-syndromic patients with isolated atrial and/or ventricular septal defects, the predominant cardiac defects of the Holt-Oram syndrome, and identified a patient with a homozygous mutation in an enhancer ∼90 kb downstream of TBX5. Notably, we demonstrate that this single-base-pair mutation abrogates the ability of the enhancer to drive expression within the heart in vivo using both mouse and zebrafish transgenic models. Given the population-wide frequency of this variant, we estimate that 1/100 000 individuals would be homozygous for this variant, highlighting that a significant number of CHD associated with TBX5 dysfunction might arise from non-coding mutations in TBX5 heart enhancers, effectively decoupling the heart and hand phenotypes of the Holt-Oram syndrome. [Mh] Términos MeSH primario: Anomalías Múltiples/genética Elementos de Facilitación Genéticos Cardiopatías Congénitas/genética Defectos del Tabique Interatrial/genética Deformidades Congénitas de las Extremidades Inferiores/genética Proteínas de Dominio T Box/genética Deformidades Congénitas de las Extremidades Superiores/genética [Mh] Términos MeSH secundario: Anomalías Múltiples/embriología Anomalías Múltiples/metabolismo Animales Animales Modificados Genéticamente Secuencia de Bases Corazón/embriología Cardiopatías Congénitas/embriología Cardiopatías Congénitas/metabolismo Defectos del Tabique Interatrial/embriología Defectos del Tabique Interatrial/metabolismo Homocigoto Humanos Deformidades Congénitas de las Extremidades Inferiores/embriología Deformidades Congénitas de las Extremidades Inferiores/metabolismo Ratones Datos de Secuencia Molecular Mutación Puntual Proteínas de Dominio T Box/metabolismo Deformidades Congénitas de las Extremidades Superiores/embriología Deformidades Congénitas de las Extremidades Superiores/metabolismo Pez Cebra [Pt] Tipo de publicación: JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL [Nm] Nombre de substancia: 0 (T-Box Domain Proteins); 0 (T-box transcription factor 5) [Em] Mes de ingreso: 1301 [Cu] Fecha actualización por clase: 130416 [Lr] Fecha última revisión: 130416 [Sb] Subgrupo de revista: IM [Da] Fecha de ingreso para procesamiento: 120628 [St] Status: MEDLINE [do] DOI: 10.1093/hmg/dds165

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[PMID]: 22763061 [Au] Autor: Lochner HV; Oishi S; Ezaki M; Malungpaishrope K; Moore RB [Ad] Dirección: Texas Scottish Rite Hospital for Children, Dallas, TX, USA. hlochne1@jhmi.edu [Ti] Título: The fate of the index metacarpophalangeal joint following pollicization. [So] Fuente: J Hand Surg Am;37(8):1672-6, 2012 Aug. [Is] ISSN: 1531-6564 [Cp] País de publicación: United States [La] Idioma: eng [Ab] Resumen: PURPOSE: To characterize the complications that occur at the index metacarpophalangeal (MCP) joint following pollicization and to identify the blood supply of the index MCP joint. METHODS: Eighty-five pollicized digits in 74 patients (1974-2007) were followed after surgery and had documented clinical examinations and radiographs to evaluate physeal arrest, nonunion at the pollicized digit base, and instability of the new carpometacarpal joint at a minimum of 2 years following surgery. RESULTS: Proximal phalanx physeal arrest was the most common complication. Radiographic nonunion at the juncture of the index metacarpal head and base occurred with and without instability. Twenty-one of 85 pollicized digits showed radiographic evidence of physeal arrest, 12 of which were complete and 9 partial. No clinical factor was found to significantly correlate with a physeal arrest, although the 9 patients with the diagnosis of Holt-Oram syndrome trended toward a higher percentage, with 6 digits in 5 patients with Holt-Oram syndrome showing this complication. Twenty pollicized MCP joints did not have bony union to the base of the index metacarpal, but only 3 were clinically unstable and required surgical stabilization. Ten pollicized digits developed some degree of instability and subluxation at the new carpometacarpal joint, but only one required surgical intervention. In recent cases, a search for the blood supply to the MCP joint has demonstrated a consistent vessel deep to the interosseous muscles that arborizes on the volar metacarpal neck. Our surgical technique has evolved to preserve this vessel whenever possible. CONCLUSIONS: Our complications are most likely due to technical factors. Careful dissection of the index MCP joint during pollicization should help reduce physeal growth arrest. Patients with Holt-Oram syndrome might have an increased risk of growth arrest. However, the majority of patients did not require secondary surgery and have good function. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV. [Mh] Términos MeSH primario: Anomalías Múltiples/cirugía Cardiopatías Congénitas/cirugía Defectos del Tabique Interatrial/cirugía Deformidades Congénitas de las Extremidades Inferiores/cirugía Articulación Metacarpofalángica/cirugía Complicaciones Postoperatorias/epidemiología Deformidades Congénitas de las Extremidades Superiores/cirugía [Mh] Términos MeSH secundario: Anomalías Múltiples/fisiopatología Anomalías Múltiples/radiografía Adolescente Niño Preescolar Femenino Cardiopatías Congénitas/fisiopatología Cardiopatías Congénitas/radiografía Defectos del Tabique Interatrial/fisiopatología Defectos del Tabique Interatrial/radiografía Humanos Lactante Deformidades Congénitas de las Extremidades Inferiores/fisiopatología Deformidades Congénitas de las Extremidades Inferiores/radiografía Masculino Articulación Metacarpofalángica/fisiopatología Articulación Metacarpofalángica/radiografía Rango del Movimiento Articular Estudios Retrospectivos Resultado del Tratamiento Deformidades Congénitas de las Extremidades Superiores/fisiopatología Deformidades Congénitas de las Extremidades Superiores/radiografía [Pt] Tipo de publicación: JOURNAL ARTICLE [Em] Mes de ingreso: 1304 [Sb] Subgrupo de revista: IM [Da] Fecha de ingreso para procesamiento: 120727 [St] Status: MEDLINE [do] DOI: 10.1016/j.jhsa.2012.05.031

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[PMID]: 22776023 [Au] Autor: Tsai TC; Lu JK; Choo SL; Yeh SY; Tang RB; Lee HY; Lu JH [Ad] Dirección: Department of Medical Research and Education, National Yang-Ming University Hospital, Yilan, Taiwan, Republic of China. [Ti] Título: The paracrine effect of exogenous growth hormone alleviates dysmorphogenesis caused by tbx5 deficiency in zebrafish (Danio rerio) embryos. [So] Fuente: J Biomed Sci;19:63, 2012. [Is] ISSN: 1423-0127 [Cp] País de publicación: England [La] Idioma: eng [Ab] Resumen: BACKGROUND: Dysmorphogenesis and multiple organ defects are well known in zebrafish (Danio rerio) embryos with T-box transcription factor 5 (tbx5) deficiencies, mimicking human Holt-Oram syndrome. METHODS: Using an oligonucleotide-based microarray analysis to study the expression of special genes in tbx5 morphants, we demonstrated that GH and some GH-related genes were markedly downregulated. Zebrafish embryos microinjected with tbx5-morpholino (MO) antisense RNA and mismatched antisense RNA in the 1-cell stage served as controls, while zebrafish embryos co-injected with exogenous growth hormone (GH) concomitant with tbx5-MO comprised the treatment group. RESULTS: The attenuating effects of GH in tbx5-MO knockdown embryos were quantified and observed at 24, 30, 48, 72, and 96 h post-fertilization. Though the understanding of mechanisms involving GH in the tbx5 functioning complex is limited, exogenous GH supplied to tbx5 knockdown zebrafish embryos is able to enhance the expression of downstream mediators in the GH and insulin-like growth factor (IGF)-1 pathway, including igf1, ghra, and ghrb, and signal transductors (erk1, akt2), and eventually to correct dysmorphogenesis in various organs including the heart and pectoral fins. Supplementary GH also reduced apoptosis as determined by a TUNEL assay and decreased the expression of apoptosis-related genes and proteins (bcl2 and bad) according to semiquantitative reverse-transcription polymerase chain reaction and immunohistochemical analysis, respectively, as well as improving cell cycle-related genes (p27 and cdk2) and cardiomyogenetic genes (amhc, vmhc, and cmlc2). CONCLUSIONS: Based on our results, tbx5 knockdown causes a pseudo GH deficiency in zebrafish during early embryonic stages, and supplementation of exogenous GH can partially restore dysmorphogenesis, apoptosis, cell growth inhibition, and abnormal cardiomyogenesis in tbx5 knockdown zebrafish in a paracrine manner. [Mh] Términos MeSH primario: Desarrollo Embrionario Hormona del Crecimiento Morfogénesis Proteínas de Dominio T Box Pez Cebra [Mh] Términos MeSH secundario: Anomalías Múltiples Animales Apoptosis/efectos de drogas Apoptosis/genética Desarrollo Embrionario/efectos de drogas Desarrollo Embrionario/genética Regulación del Desarrollo de la Expresión Génica/efectos de drogas Regulación del Desarrollo de la Expresión Génica/genética Hormona del Crecimiento/administración & dosificación Hormona del Crecimiento/genética Hormona del Crecimiento/metabolismo Corazón/efectos de drogas Corazón/crecimiento & desarrollo Cardiopatías Congénitas Defectos del Tabique Interatrial Humanos Deformidades Congénitas de las Extremidades Inferiores Morfogénesis/efectos de drogas Morfogénesis/genética Morfolinos Comunicación Paracrina ARN sin Sentido/administración & dosificación Somatomedinas/genética Somatomedinas/metabolismo Proteínas de Dominio T Box/deficiencia Proteínas de Dominio T Box/genética Proteínas de Dominio T Box/metabolismo Deformidades Congénitas de las Extremidades Superiores Pez Cebra/genética Pez Cebra/crecimiento & desarrollo Proteínas de Pez Cebra/genética Proteínas de Pez Cebra/metabolismo [Pt] Tipo de publicación: JOURNAL ARTICLE [Nm] Nombre de substancia: 0 (Morpholinos); 0 (RNA, Antisense); 0 (Somatomedins); 0 (T-Box Domain Proteins); 0 (T-box transcription factor 5); 0 (Zebrafish Proteins); 0 (igf1 protein, zebrafish); 9002-72-6 (Growth Hormone) [Em] Mes de ingreso: 1301 [Cu] Fecha actualización por clase: 130401 [Lr] Fecha última revisión: 130401 [Sb] Subgrupo de revista: IM [Da] Fecha de ingreso para procesamiento: 120730 [St] Status: MEDLINE [do] DOI: 10.1186/1423-0127-19-63

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[PMID]: 22327451 [Au] Autor: Al-Sayyad MJ [Ad] Dirección: Department of Orthopaedic Surgery, King Abdulaziz University Hospital, Jeddah, Saudi Arabia. abojalal@aol.com [Ti] Título: Taylor spatial frame in the treatment of upper extremity conditions. [So] Fuente: J Pediatr Orthop;32(2):169-78, 2012 Mar. [Is] ISSN: 1539-2570 [Cp] País de publicación: United States [La] Idioma: eng [Ab] Resumen: BACKGROUND: Taylor spatial frame (TSF) is a modern multiplanar external fixator that combines ease of application and computer accuracy; it provides the capability of 1 to 6 axes of deformity correction sequentially or simultaneously by adjusting 6 connecting struts between 2 circular rings. Previous reports have documented the effectiveness of the TSF in acute fracture care, nonunion treatment, and in bone lengthening and deformity correction in the lower extremity. To the authors' knowledge, no previous case series in the English literature have documented the use of the TSF in treating upper extremity conditions. Our experience with the use of this external fixator in the treatment of upper extremity length abnormality, angulation, and bone transport is summarized. METHODS: Over a period of 7 years, TSF was used in 12 patients with varying upper extremity pathologies that were collected from our prospective external fixator database. The classic TSF planning strategy was adopted and the TSF web-based program was used. All cases were followed for a minimum of 2 years. The database and radiographs were reviewed to obtain demographic data, malalignment parameters, final correction, time in the TSF, and complications. RESULT: Patients' ages ranged from 8 to 18 years. Eight humeral and 4 radial cases were identified. These included 4 cubitus varus and 1 cubitus valgus deformity, 1 neglected supracondylar fracture, 2 humeral nonunion, 2 radial malunion cases, and 1 radial shaft septic nonunion. Time in the TSF varied according to patient age and bone involved. Five patients had superficial pin site infections that resolved with oral antibiotics. Postoperatively mean final angulation on the anteroposterior radiograph was 1 degree (range, 0 to 5 degrees) and the mean final angulation on the lateral radiograph was 0.5 degrees (range, 0 to 2 degrees). Union of bone was achieved in all cases. CONCLUSIONS: The TSF is an external fixator that can be successfully used as a treatment alternative for the definitive treatment of upper extremity conditions involving a deformity and or shortening or bone transport in the pediatric and adolescent patient population. LEVEL OF EVIDENCE: Level IV. [Mh] Términos MeSH primario: Fijadores Externos Fijación de Fractura/métodos Fracturas Mal Unidas/cirugía Húmero/cirugía Radio (Anatomía)/cirugía Deformidades Congénitas de las Extremidades Superiores/cirugía [Mh] Términos MeSH secundario: Adolescente Niño Humanos Húmero/anomalías Estudios Prospectivos Radio (Anatomía)/anomalías Extremidad Superior/lesiones Extremidad Superior/cirugía [Pt] Tipo de publicación: JOURNAL ARTICLE [Em] Mes de ingreso: 1303 [Sb] Subgrupo de revista: IM [Da] Fecha de ingreso para procesamiento: 120213 [St] Status: MEDLINE [do] DOI: 10.1097/BPO.0b013e3182471ae4

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[PMID]: 21771154 [Au] Autor: Coccia P; Ruggiero A; Mastrangelo S; Attinà G; Scalzone M; Pittiruti M; Zampino G; Maurizi P; Riccardi R [Ad] Dirección: Division of Paediatric Oncology, Department of Surgery, Catholic University of Rome, Rome, Italy. p.coccia@fastwebnet.it [Ti] Título: Management of children with thrombocytopenia-absent radius syndrome: an institutional experience. [So] Fuente: J Paediatr Child Health;48(2):166-9, 2012 Feb. [Is] ISSN: 1440-1754 [Cp] País de publicación: Australia [La] Idioma: eng [Ab] Resumen: AIM: Thrombocytopenia-absent radius (TAR) syndrome is characterised by bilateral absence of the radii in the presence of both thumbs and hypomegakaryocytic thrombocytopenia. We report our experience of three patients affected by TAR syndrome presenting with different clinical manifestations focusing on the management of these patients. METHODS AND RESULTS: We propose the use of long-term central venous catheters to reduce discomfort because of repeated vein punctures in search for a venous access, rendered difficult by upper limbs abnormalities. CONCLUSIONS: It is important to improve the quality of life of affected patients. [Mh] Términos MeSH primario: Cateterismo Venoso Central/métodos Radio (Anatomía)/anomalías Trombocitopenia/terapia Deformidades Congénitas de las Extremidades Superiores/terapia [Mh] Términos MeSH secundario: Anomalías Múltiples Humanos Recién Nacido Masculino Pulgar/anomalías [Pt] Tipo de publicación: JOURNAL ARTICLE [Em] Mes de ingreso: 1303 [Sb] Subgrupo de revista: IM [Da] Fecha de ingreso para procesamiento: 120210 [St] Status: MEDLINE [do] DOI: 10.1111/j.1440-1754.2011.02069.x

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[PMID]: 23247882 [Au] Autor: Woldendorp KH; van Gils W [Ad] Dirección: Revalidatie Friesland, Beetsterzwaag, The Netherlands. k.h.woldendorp@revalidatie-friesland.nl [Ti] Título: One-handed musicians-more than a gimmick. [So] Fuente: Med Probl Perform Art;27(4):231-7, 2012 Dec. [Is] ISSN: 0885-1158 [Cp] País de publicación: United States [La] Idioma: eng [Ab] Resumen: There are many musicians with acquired limitations in making music, and there are many people with a disability who would like to play a music instrument in a modified way. There is discouragingly little information about this topic in literature. This article gives an overview of "making music in a modified way." It focuses on the possibilities for musicians with one-handed functionality to overcome problems with regards to their physical condition, insufficient muscle strength, or missing parts of the upper extremity. Five categories of possibilities for the functional one-handed musicians are described: 1. one-hand reconstructed instruments, 2. one-hand compositions, 3. adaptations of the instrument for the other hand, 4. prostheses to make it possible to play with both hands/arms, and 5. other techniques which enable the use of the leg(s). The solutions described make clear that playing music in an adaptive way requires an interdisciplinary approach. The purpose of this article is to inform, and to inspire, the healthcare professional about the many possibilities for functional one-handed musicians. [Mh] Términos MeSH primario: Amputación/rehabilitación Miembros Artificiales Estado de Salud Música Deformidades Congénitas de las Extremidades Superiores/rehabilitación Extremidad Superior/fisiopatología [Mh] Términos MeSH secundario: Amputados Humanos Balance Postural Diseño de Prótesis Análisis y Desempeño de Tareas [Pt] Tipo de publicación: JOURNAL ARTICLE [Em] Mes de ingreso: 1303 [Sb] Subgrupo de revista: IM [Da] Fecha de ingreso para procesamiento: 121218 [St] Status: MEDLINE

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[PMID]: 22447508 [Au] Autor: Sinha R; Nema C [Ad] Dirección: Department of Paediatrics, Military Hospital, Pathankot, India. drrahul_2000@yahoo.com [Ti] Título: Rare cardiac defect in Holt-Oram syndrome. [So] Fuente: Cardiovasc J Afr;23(2):e3-4, 2012 Mar. [Is] ISSN: 1680-0745 [Cp] País de publicación: South Africa [La] Idioma: eng [Ab] Resumen: Holt-Oram syndrome is an autosomal dominant condition associated with skeletal malformations of the upper limbs, and congenital heart disease. Approximately 40% of cases represent new mutations. Defective development of the embryonic radial ray (e.g. aplasia, hypoplasia, fusion, other anomalous development) results in a wide spectrum of phenotypes, including triphalangeal or absent thumbs, foreshortened arms and phocomelia. The syndrome is associated with defective development of cardiac structures that results in atrial septal defect (ASD), most commonly the secundum type, heart block of varying degrees, or both. We report a rare cardiac defect patent ductus arteriosus (PDA) and ventricular septal defect (VSD) in a case of Holt-Oram syndrome. [Mh] Términos MeSH primario: Anomalías Múltiples/diagnóstico Cardiopatías Congénitas/diagnóstico Defectos del Tabique Interatrial/diagnóstico Defectos del Tabique Interventricular/diagnóstico Hipertrofia Ventricular Izquierda/diagnóstico Deformidades Congénitas de las Extremidades Inferiores/diagnóstico Polidactilia/diagnóstico Pulgar/anomalías Deformidades Congénitas de las Extremidades Superiores/diagnóstico [Mh] Términos MeSH secundario: Anomalías Múltiples/genética Anomalías Múltiples/radiografía Adulto Ecocardiografía Femenino Cardiopatías Congénitas/genética Cardiopatías Congénitas/radiografía Defectos del Tabique Interatrial/genética Defectos del Tabique Interatrial/radiografía Defectos del Tabique Interventricular/genética Defectos del Tabique Interventricular/radiografía Humanos Hipertrofia Ventricular Izquierda/genética Hipertrofia Ventricular Izquierda/radiografía Recién Nacido Deformidades Congénitas de las Extremidades Inferiores/genética Deformidades Congénitas de las Extremidades Inferiores/radiografía Masculino Mutación/genética Polidactilia/genética Polidactilia/radiografía Proteínas de Dominio T Box/genética Deformidades Congénitas de las Extremidades Superiores/genética Deformidades Congénitas de las Extremidades Superiores/radiografía [Pt] Tipo de publicación: CASE REPORTS; JOURNAL ARTICLE [Nm] Nombre de substancia: 0 (T-Box Domain Proteins); 0 (T-box transcription factor 5) [Em] Mes de ingreso: 1302 [Sb] Subgrupo de revista: IM [Da] Fecha de ingreso para procesamiento: 120326 [St] Status: MEDLINE [do] DOI: 10.5830/CVJA-2011-017

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[PMID]: 22955538 [Au] Autor: Catena N; Divizia MT; Calevo MG; Baban A; Torre M; Ravazzolo R; Lerone M; Sénès FM [Ad] Dirección: Microsurgery and Hand Surgery Unit-Orthopaedics and Traumatology Department, G. Gaslini Institute, Genoa, Italy. [Ti] Título: Hand and upper limb anomalies in Poland syndrome: a new proposal of classification. [So] Fuente: J Pediatr Orthop;32(7):727-31, 2012 Oct-Nov. [Is] ISSN: 1539-2570 [Cp] País de publicación: United States [La] Idioma: eng [Ab] Resumen: BACKGROUND: The Poland anomaly (PA) comprises unilateral absence or hypoplasia of the pectoralis major muscle and a variable degree of ipsilateral hand and upper limb anomalies. Various hand and upper limb anomalies classifications in PA have been previously published. In this work, a new classification of hand and upper limb anomalies in PA is proposed, on the basis of the clinical and instrumental evaluation of 175 patients. METHODS: The patients have been followed by a multidisciplinary approach, consisting in orthopaedic, surgical, and genetic evaluation and chest, upper limb, and ultrasound examination of major and minor pectoralis muscles, heart, and kidney. RESULTS: Hand and upper limb anomalies were classified in 8 groups on the basis of the clinical degree of severity and on the basis of the presence of coexisting associated anomalies. Data regarding the sex and laterality, previously reported in the medical literature, were confirmed by our analysis. Etiopathogenetic mechanisms leading to the anomaly are discussed. CONCLUSIONS: The proposed classification is derived from the observation of the widest group of patients described in the medical literature. Our proposal could help in the management of patients affected by Poland syndrome and in understanding etiological and pathologic aspects of the disease. LEVEL OF EVIDENCE: IV. [Mh] Términos MeSH primario: Deformidades Congénitas de la Mano/clasificación Síndrome de Poland/clasificación Deformidades Congénitas de las Extremidades Superiores/clasificación [Mh] Términos MeSH secundario: Niño Preescolar Femenino Deformidades Congénitas de la Mano/patología Humanos Lactante Masculino Síndrome de Poland/patología Estudios Retrospectivos Índice de Severidad de la Enfermedad Deformidades Congénitas de las Extremidades Superiores/patología [Pt] Tipo de publicación: JOURNAL ARTICLE [Em] Mes de ingreso: 1302 [Sb] Subgrupo de revista: IM [Da] Fecha de ingreso para procesamiento: 120907 [St] Status: MEDLINE [do] DOI: 10.1097/BPO.0b013e318269c898

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