The risk of intervention was higher in individuals with Noonan syndrome and pulmonary stenosis carrying PTPN11 mutations. Overall, mortality was relatively low, even though the specific association between HCM, biventricular outflow tract obstructions and PTPN11 mutations appeared to be associated with early mortality, including immediate post-operative events and sudden death.
Summ aryTwo groups of patients who developed orthostatic hypotension (OH) after spinal cord injury (SCI) were studied. In the first group all patients (4 females and 6 males) were asymptomatic, whereas in the second group (1 female and 9 males) all had clinical manifestations of hypotension. All but 3 patients were tetraplegic , and these patients were paraplegic above the T6 level. For this study blood pressure (BP) , heart rate and cerebral blood flow (CBF) velocity were measured simultaneously on a tilt table at 0, 30 , 60, and 80 degrees. Cerebral blood flow in the middle cerebral artery was measured bilaterally utilising the transcranial Doppler technique. In asymptomatic patients the mean baseline (0 degrees) BP (110 ± 16/70 ± 77 mm Hg systolic/diastolic) was not significantly different from the BP (106 ± 16/68 ± 11 mm Hg) of symptomatic patients. The mean maximal change in BP during tilling in the asymptomatic group ( -23 ± 10/10 ± 7 mm Hg) was also not significantly different when compared to the symptomatic group (-29 ± 13/11 ± 6 mm Hg). CBF in the symptomatic group during the hypotensive reaction at 80 degrees was 32.5 ± 5 cm/sec, while at the same body position in the asymptomatic group it was 40·9 ± 8 cm/sec (significant at the p < 0·02). In addition, CBF decreased in the symptomatic group at 80 degrees to 55·5 ± 9·6% of baseline, while in the asymptomatic group the fall was 69·3 ± 7·2% (p < 0·001). Our data suggests that autoregulation of CBF rather than systemic BP plays a dominant role in the adaptation to OH in patients with SCI.
Our study supports posterior decompression alone as the gold standard option as treatment for lumbar stenosis without instability and deformity. Additional fusion should be considered only to prevent post-surgical instability. The "micro-instability" is a radiological finding that has its clinical surrogate but is not able to guide the choice of the type of surgery. Moreover the significance of "micro-instability" is still unclear. We suggest a prospective study following patients with asymptomatic micro-instability to definitively understand the clinical history.
Transcranial MR-guided Focused ultrasound (tcMRgFUS) is a surgical procedure that adopts focused ultrasounds beam towards a specific therapeutic target through the intact skull. The convergence of focused ultrasound beams onto the target produces tissue effects through released energy. Regarding neurosurgical applications, tcMRgFUS has been successfully adopted as a non-invasive procedure for ablative purposes such as thalamotomy, pallidotomy, and subthalamotomy for movement disorders. Several studies confirmed the effectiveness of tcMRgFUS in the treatment of several neurological conditions, ranging from motor disorders to psychiatric disorders. Moreover, using low-frequencies tcMRgFUS systems temporarily disrupts the blood–brain barrier, making this procedure suitable in neuro-oncology and neurodegenerative disease for controlled drug delivery. Nowadays, tcMRgFUS represents one of the most promising and fascinating technologies in neuroscience. Since it is an emerging technology, tcMRgFUS is still the subject of countless disparate studies, even if its effectiveness has been already proven in many experimental and therapeutic fields. Therefore, although many studies have been carried out, many others are still needed to increase the degree of knowledge of the innumerable potentials of tcMRgFUS and thus expand the future fields of application of this technology.
Brain gliomas require a deep knowledge of their effects on brain connectivity. Understanding the complex relationship between tumor and functional brain is the preliminary and fundamental step for the subsequent surgery. The extent of resection (EOR) is an independent variable of surgical effectiveness and it correlates with the overall survival. Until now, great efforts have been made to achieve gross total resection (GTR) as the standard of care of brain tumor patients. However, high and low-grade gliomas have an infiltrative behavior and peritumoral white matter is often infiltrated by tumoral cells. According to these evidences, many efforts have been made to push the boundary of the resection beyond the contrast-enhanced lesion core on T1w MRI, in the so called supratotal resection (SpTR). SpTR is aimed to maximize the extent of resection and thus the overall survival. SpTR of primary brain tumors is a feasible technique and its safety is improved by intraoperative neuromonitoring and advanced neuroimaging. Only transient cognitive impairments have been reported in SpTR patients compared to GTR patients. Moreover, SpTR is related to a longer overall and progression-free survival along with preserving neuro-cognitive functions and quality of life.
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