RESUMO
The study of homeotic-transformation mutants in model organisms such as Drosophila revolutionized the field of developmental biology, but how these mutants relate to human developmental defects remains to be elucidated. Here, we show that Liebenberg syndrome, an autosomal-dominant upper-limb malformation, shows features of a homeotic limb transformation in which the arms have acquired morphological characteristics of a leg. Using high-resolution array comparative genomic hybridization and paired-end whole-genome sequencing, we identified two deletions and a translocation 5' of PITX1. The structural changes are likely to remove active PITX1 forelimb suppressor and/or insulator elements and thereby move active enhancer elements in the vicinity of the PITX1 regulatory landscape. We generated transgenic mice in which PITX1 was misexpressed under the control of a nearby enhancer and were able to recapitulate the Liebenberg phenotype.
Assuntos
Braquidactilia/genética , Rearranjo Gênico , Genes Homeobox , Loci Gênicos , Deformidades Congênitas da Mão/genética , Fatores de Transcrição Box Pareados/genética , Sinostose/genética , Transformação Genética , Animais , Ossos do Carpo/anormalidades , Hibridização Genômica Comparativa/métodos , Articulação do Cotovelo/anormalidades , Feminino , Dedos/anormalidades , Deleção de Genes , Regulação da Expressão Gênica no Desenvolvimento , Predisposição Genética para Doença , Genoma Humano , Humanos , Masculino , Camundongos , Camundongos Transgênicos , Análise de Sequência de DNA/métodos , Translocação Genética , Articulação do Punho/anormalidadesRESUMO
It has long been thought that the surgical treatment of osteoarthritis of the first carpometacarpal joint must replicate the normal anatomy. Common sense argues that biomechanical stability can be achieved by a simple ball-and-socket joint obviating complicated ligament reconstructions and trapezium replacements. Our argument is presented and the conclusions are based on the results of a very large series over a long period. A simple trapezium excision arthroplasty of the base of the thumb without ligamentous reconstructions is all that needs to be done to surgically solve painful osteoarthritis of the first carpometacarpal joint. Anything more is overoperating.
Assuntos
Articulações Carpometacarpais , Osteoartrite , Trapézio , Artroplastia/métodos , Articulações Carpometacarpais/cirurgia , Humanos , Osteoartrite/cirurgia , Polegar/cirurgia , Trapézio/cirurgiaRESUMO
We have performed 14 pollicisations without creating a "pseudo-trapezium" from the metacarpal head. The entire metacarpal of the intended finger to be pollicised is removed and the proximal phalanx of the finger is inserted into the space left by the base of the excised metacarpal. The results are good to excellent in all 14 cases followed for 2-9 years. The advantages are that the operation is much simpler, thus also much quicker. The new thumb looks more like a thumb (not too long) and is more stable (ball-and-socket joint), with no long term complications often seen with the pseudo-trapezium.
Assuntos
Falanges dos Dedos da Mão/cirurgia , Dedos/anormalidades , Deformidades Congênitas da Mão/cirurgia , Ossos Metacarpais/cirurgia , Procedimentos Ortopédicos/métodos , Feminino , Humanos , Lactente , MasculinoRESUMO
Replacing a destroyed MCPJ has always been a challenge. Few operations have resulted in consistent satisfactory results. Also, anchoring a subluxed EDC tendon from the metacarpal head has produced numerous corrective procedures, again indicating the difficulty to keep the extensor tendon aligned. The EDC anchor and interposition arthroplasty procedure addresses both these challenging problems.
Assuntos
Artrite/cirurgia , Artroplastia/métodos , Falanges dos Dedos da Mão/cirurgia , Articulação Metacarpofalângica/cirurgia , Suturas , Humanos , Pessoa de Meia-Idade , Tendões/cirurgiaRESUMO
Since much confusion exists regarding arthrogryposis multiplex congenita (AMC), the President of the IFSSH commissioned the AMC Committee to compile a report on the various aspects of this condition. This report discusses all the facets of AMC, including definition, terminology, dermographics, aetiology, classification, clinical features, management, prognosis and further studies. Manipulation of the deformities starting soon after birth improves the range of motion, which, if surgery needs to be done, makes the operation less extensive. Sometimes surgery may not even be necessary. Early one-stage corrective surgery between 3 and 12 months of age is encouraged. This results in improved function and near normal cosmetic appearance. Late, piece-meal surgery results in disappointing outcome.
Assuntos
Artrogripose/etiologia , Artrogripose/cirurgia , Artrogripose/classificação , Artrogripose/diagnóstico , Humanos , Procedimentos Ortopédicos , Prognóstico , Terminologia como AssuntoRESUMO
The phenomenon of lateral sprouting of axons into an end-to-side sutured recipient nerve is well documented. The exact nature, however, still needs further investigation. Since 1996, we have been continuously involved in primate research as well as using this end-to-side nerve suture (ETSNS) method in clinical practice. Fifty-six patients with a variety of conditions, ranging from brachial plexus avulsion to digital nerve lesions, have been operated. From our experience, it seems that the best results achieved are proximal motor re-innervation (e.g. biceps) and distal sensory re-innervation (e.g. volar skin of the hand). The discussion will cover various aspects for ETSNS in the human patient, such as indications, parameters, technique, and the importance of rehabilitation. ETSNS restores function in conditions previously difficult to operate, and may replace nerve grafting in many instances. It provides an additional method in our armamentarium in peripheral nerve surgery.
Assuntos
Plexo Braquial/cirurgia , Nervo Mediano/cirurgia , Transferência de Nervo/métodos , Nervo Tibial/cirurgia , Nervo Ulnar/cirurgia , Anastomose Cirúrgica/métodos , Plexo Braquial/lesões , Feminino , Dedos/inervação , Dedos/fisiopatologia , Humanos , Masculino , Nervo Mediano/lesões , Músculo Esquelético/inervação , Músculo Esquelético/fisiopatologia , Recuperação de Função Fisiológica/fisiologia , Transtornos de Sensação/cirurgia , Nervo Tibial/lesões , Recusa do Paciente ao Tratamento , Nervo Ulnar/lesõesRESUMO
End-to-side nerve suture (ETSNS) is a viable option to re-innervate a paralysed biceps muscle. The host or donor nerve could be any of the adjacent large nerves including the brachial plexus. It is important to adhere to certain principles when performing ETSNS, e.g. epineural window only, suture line without tension, the recipient nerve should not "kink" in any way and complete immobilisation for at least three weeks. The earlier this ETSNS is done after injury the better the outcome. Patient co-operation and motivation is of the utmost importance. The post-operative rehabilitation programme is essential to "awaken" and strengthen the dormant muscle. Our results are based on five patients. Good elbow flexion, i.e. biceps contraction can be regained after ETSNS of, for example, the musculo-cutaneous nerve into an appropriate viable host nerve.
Assuntos
Plexo Braquial/cirurgia , Músculo Esquelético/inervação , Nervo Musculocutâneo/cirurgia , Transferência de Nervo/métodos , Paralisia/cirurgia , Adulto , Anastomose Cirúrgica/métodos , Braço/inervação , Plexo Braquial/lesões , Feminino , Humanos , Masculino , Músculo Esquelético/fisiopatologia , Modalidades de Fisioterapia , Cuidados Pós-Operatórios , Recuperação de Função Fisiológica/fisiologia , Resultado do TratamentoRESUMO
Osteo-arthritis (OA) of the scapho-trapezium-trapezoid joint (STT) is the second most common involved joint after trapezium-metacarpal I OA in the wrist. The possible aetiology causing or contributing to the development of STT OA is shortly discussed. A working classification is then proposed, which assists in the management of STT OA.