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1.
Hernia ; 2023 Sep 19.
Artigo em Inglês | MEDLINE | ID: mdl-37726424

RESUMO

PURPOSE: Undeniably, in the last 2 decades, surgical approaches in the field of abdominal wall repair have notably improved. However, the best approach to provide a durable repair with low morbidity rate has yet to be determined. The purpose of this study is to outline our long-term results following the Transverse Abdominis Release (TAR) approach in patients with complex ventral hernias, focusing on the incidence of recurrence and overall patient satisfaction following surgery. METHODS: This is a retrospective study on 167 consecutive patients who underwent TAR between January 2015 and December 2021 for primary or recurrent complex abdominal hernias. Of these, 117 patients who underwent the open Madrid approach with the use of a double mesh (absorbable and permanent synthetic mesh) were selected and analyzed. A quality of life questionnaire (EuraHS QoL) comparing the preoperative and the postoperative status was administered. RESULTS: Between January 2015 and December 2021, we successfully treated 117 patients presenting with complex ventral defects using the double mesh technique (absorbable and permanent synthetic mesh). Of these, 26 (22.2%) were recurrent cases. At a median follow-up period of 37.7 months, there had been 1 (0.8%) case of recurrence and 8 cases (6.8%) of bulging. The QoL score was significantly improved when compared to the preoperative status in terms of cosmesis, body perception, and physical discomfort. CONCLUSIONS: The Madrid approach for posterior component separation is associated with both a low perioperative morbidity and recurrence rate. In accordance with other studies, we demonstrated that the TAR with reconstruction according to the Madrid approach provides excellent results in the treatment of complex abdominal wall hernias, even at long-term follow-up.

2.
Neurology ; 63(10): 1968-70, 2004 Nov 23.
Artigo em Inglês | MEDLINE | ID: mdl-15557528

RESUMO

The authors report the unusual clinical and neurophysiologic features of a sporadic case of a boy carrying an 806delG mutation on the MECP2 gene. A 28-month-old boy was examined for severe developmental delay, seizures, microcephaly, breathing dysfunction, and spontaneous and evoked myoclonic jerks of upper limbs. Neurophysiologic study proved the cortical origin of myoclonus; however, it was not associated with signs of cortical hyperexcitability. 3-Methoxy-4-hydroxy-phenylethylene glycol and valine concentrations were low in CSF.


Assuntos
Proteínas Cromossômicas não Histona/genética , Proteínas de Ligação a DNA/genética , Deficiências do Desenvolvimento/genética , Epilepsias Parciais/genética , Epilepsia Tônico-Clônica/genética , Doenças Genéticas Ligadas ao Cromossomo X/genética , Epilepsia Mioclônica Juvenil/genética , Proteínas Repressoras/genética , Proteínas Cromossômicas não Histona/deficiência , Códon sem Sentido , Análise Mutacional de DNA , Proteínas de Ligação a DNA/deficiência , Deficiências do Desenvolvimento/líquido cefalorraquidiano , Deficiências do Desenvolvimento/fisiopatologia , Eletroencefalografia , Eletromiografia , Epilepsia Tônico-Clônica/líquido cefalorraquidiano , Epilepsia Tônico-Clônica/fisiopatologia , Potenciais Somatossensoriais Evocados , Doenças Genéticas Ligadas ao Cromossomo X/líquido cefalorraquidiano , Doenças Genéticas Ligadas ao Cromossomo X/classificação , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/fisiopatologia , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Metoxi-Hidroxifenilglicol/líquido cefalorraquidiano , Proteína 2 de Ligação a Metil-CpG , Microcefalia/genética , Epilepsia Mioclônica Juvenil/líquido cefalorraquidiano , Epilepsia Mioclônica Juvenil/fisiopatologia , Transtornos Psicomotores/líquido cefalorraquidiano , Transtornos Psicomotores/genética , Transtornos Psicomotores/fisiopatologia , Transtornos Respiratórios/genética , Síndrome de Rett/genética , Deleção de Sequência , Fatores Sexuais , Estado Epiléptico/etiologia , Gravação em Vídeo
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