INTRODUÇÃO. Atualmente, o tratamento da hidrocefalia é realizado principalmente através de uma Derivação ventrículo-peritoneal (DVP). Este estudo tem como objetivo descrever a aplicação da derivação ventrículosinusal retrógrada (DVSR) em pacientes com hidrocefalia após o tratamento cirúrgico de mielomeningocele. MÉTODO. Estudo prospectivo, randomizado e controlado. Foram selecionados consecutivamente 9 pacientes com hidrocefalia após correção cirúrgica de mielomeningocele de janeiro de 2010 a janeiro de 2012. Os pacientes foram submetidos à DVSR ou DVP eletiva. Cinco submetidos à DVSR e 4 à DVP, sendo seguidos por 1 ano com realização trimestral de avaliações clínicas, de imagem e aplicação do Doppler transcraniano. RESULTADOS. Os pacientes tratados com DVSR apresentaram desfechos clínicos semelhantes aos do grupo de DVP. O Doppler mostrou melhora significativa quando comparado o pré-operatório com o pós-operatório. O grupo DVSR apresentou perímetro cefálico significativamente maior que o grupo DVP. O desenvolvimento neuropsicomotor, complicações e desfechos centrados nos pacientes não diferiram entre os grupos. CONCLUSÕES. A técnica cirúrgica da derivação ventrículo-sinusal retrógrada é viável; ela é uma opção alternativa para o tratamento de hidrocefalia / INTRODUCTION. Currently, treatment of hydrocephalus is accomplished primarily through a ventricular-peritoneal shunt (VPS). This study aims to describe the application of retrograde ventricle-sinus shunt (RVSS) in patients with hydrocephalus after surgical treatment of myelomeningocele. METHOD. A prospective, randomized and controlled study. We consecutively enrolled 9 patients with hydrocephalus after surgical repair of myelomeningocele from January 2010 to January 2012. These patients underwent elective RVSS or VPS. Five underwent RVSS and 4 underwent VPS. These patients were followed for one year with quarterly clinical and image evaluations and application of transcranial Doppler. RESULTS. Patients treated with RVSS showed clinical outcomes similar to those of VPS group. Doppler showed significant improvement when comparing preoperative to the postoperative period. RVSS group showed significantly higher cephalic perimeter than VPS group. Neuropsychomotor development, complications and subjective outcomes did not differ between groups. CONCLUSIONS. Surgical technique of retrograde ventricle-sinus shunt is viable; it is an alternative option for the treatment of hydrocephalus

Background: Patent Foramen Ovale (PFO), a remnant of the foetal circulation, is emerging as a new cause of disease. It has been found to be associated with cryptogenic stroke in young adults, peripheral arterial embolism and neurological decompression sickness in divers. The detection of PFO remains a diagnostic challenge; transoesophageal echocardiogram being currently considered the ‘gold standard’. The development of a non-invasive technique is crucial for the identification of a venous-to-arterial shunt (v-aCS) which may permit paradoxical embolism. Little is known about the genetic basis of PFO and our limited knowledge is based on animal studies and gene mutations detected in patients with other cardiac septal defects. Methods: Study 1: PFO Detection and Evaluation: This study was designed to evaluate transcranial Doppler (TCD), transthoracic echocardiogram (TTE) and transoesophageal echocardiogram (TOE) with administration of contrast via arm and femoral veins. We then developed a standardized protocol for PFO detection and quantification using TCD. Study 2: PFO and Migraine: The PFO detection protocol developed from the first study formed the diagnostic technique to detect v-aCS in an adequately powered matched case control study to explore the association between PFO and migraine. Study 3: The Genetic basis of PFO: This study was designed to explore the genetic basis of a PFO using a candidate gene approach. Results: Study 1 - PFO Detection Study: When compared with TOE with femoral vein contrast injection as the ‘gold standard’, TCD with arm vein contrast was 100% sensitive and 97.4% specific for detecting a PFO. We defined a PFO positive (+ve) study on TCD as > 15 microbubbles entering the cerebral circulation, on TCD following arm vein injection and >16 microbubbles with a femoral contrast injection. A ‘major’ PFO+ve v-aCS was defined as >35 microbubbles with arm vein injection or >90 microbubbles with femoral vein injection. We then developed a new diagnostic pathway for PFO detection in clinical practice. Study 2 - PFO Migraine study: A significant difference in prevalence of v-aCS between migraine with aura M+A) and their matched controls was demonstrated with adjusted OR=3.72 (1.48-9.38) p=0.005 for a PFO+ve v-aCS, and a highly significant difference between M+A and controls for a ‘major’ PFO+ve v-aCS with adjusted OR = 6.38 (1.89 – 21.48) p = 0.003. There was significant association with APC resistance and migraine on thrombophilia screen. Study 3 - The PFO Genetics Study: This study detected mutations of GATA4 and NKX2-5 in both PFO+ve cases and PFO-ve controls. Two novel non synonymous mutations of GATA4, c.461T>A and c.994G>A were found only in PFO positive individuals and may be associated with a PFO. All the PFO+ve cases with a GATA4 gene mutation had a major PFO+ve v-aCSConclusion:TCD detects PFO with a sensitivity of 100% and specificity of 92.3% and is the most reliable non-invasive technique for PFO detection. When arm vein injections are used both cough and valsalva provocation is essential. There was a highly significant association between PFO+ve v- aCS and M+A, especially with a ‘major’ PFO+ve v-aCS. GATA 4 mutations though infrequent were found PFO+ve cases and all had major v-aCS.

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