Bilateral Simultaneous Magnetic Resonance-Guided Focused Ultrasound Pallidotomy for Life-Threatening Status Dystonicus.

BACKGROUND: Invasive treatments like radiofrequency stereotactic lesioning or deep brain stimulation of the globus pallidus internus can resolve drug-resistant status dystonicus (SD). However, these open procedures are not always feasible in patients with SD. OBJECTIVE: The aim was to report the safety and efficacy of simultaneous asleep bilateral transcranial magnetic resonance-guided focused ultrasound (MRgFUS) pallidotomy for life-threatening SD. METHODS: We performed bilateral simultaneous MRgFUS pallidotomy under general anesthesia in 2 young patients with pantothenate kinase-associated neurodegeneration and GNAO1 encephalopathy. Both patients had medically refractory SD and severe comorbidities contraindicating open surgery. RESULTS: SD resolved at 4 and 12 days after MRgFUS, respectively. Adverse events (intraoperative hypothermia and postoperative facial paralysis) were mild and transient. CONCLUSION: Bilateral simultaneous MRgFUS pallidotomy under general anesthesia is safe and may be a valid alternative therapeutic option for fragile patients. Further studies are needed to assess long-term efficacy of the procedure. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Perioperative ROTEM® evaluation in a patient affected by severe VII factor deficiency undergoing microvascular decompression craniotomy for hemifacial spasm.

The potential use of TEG/ROTEM® in evaluating the bleeding risk for rare coagulation disorders needs to be assessed, considering the common mismatch among laboratory tests and the clinical manifestations. As a result, there is currently no published data on the use of viscoelastic tests to assess coagulation in FVII deficient patients undergoing elective neurosurgery. We describe the case of a patient affected by severe FVII deficiency who underwent microvascular decompression (MVD) craniotomy for hemifacial spasm (HFS). The ROTEM® did not show a significant coagulopathy according to the normal ranges, before and after the preoperative administration of the recombinant activated FVII, but a substantial reduction in EXTEM and FIBTEM Clotting Times was noted. The values of coagulation in standard tests, on the contrary, were indicative of a coagulopathy, which was corrected by the administration of replacement therapy. Whether this difference between ROTEM® and standard tests is due to the inadequacy of thromboelastographic normal ranges in this setting, or to the absence of clinically significant coagulopathy, has yet to be clarified. Neurosurgery is a typical high bleeding risk surgery; additional data is required to clarify the potential role for thromboelastographic tests in the perioperative evaluation of the FVII deficient neurosurgical patients.

Detection of early cardiac dysfunction in patients with Beta thalassemia by tissue Doppler echocardiography.

BACKGROUNDS: In this study we tried to evaluate the prognostic significance of several echocardiographic parameters on the occurrence of heart failure or arrhythmias in patients with beta thalassemia. METHODS: We investigated possible differences in myocardial function between a population of 37 asymptomatic patients with beta thalassemia and 25 age-matched healthy controls, all of whom underwent an echocardiographic study, including tissue Doppler imaging (TDI), moreover plasmatic levels of N-terminal pro-BNP (NT-pro BNP) were measured in all patients. We followed the patients for 22 ± 8 months to evaluate adverse cardiac events. RESULTS: Conventional echocardiographic parameters of left ventricle were comparable in both groups. Whereas TDI peak systolic velocity (Sm) and diastolic parameter (E/Em ratio) were significantly abnormal in patients with thalassemia. Moreover eleven adverse cardiac events were observed during follow-up. Baseline systolic velocity (Sm) <7.9 cm/s was significantly associated with cardiac complications (P < 0.05). We also demonstrated that systolic velocity is inversely related to NT-proBNP plasmatic levels (P < 0.001). CONCLUSIONS: Our study suggests that mitral annular systolic velocity <7.9 cm/s is associated to the onset of adverse cardiac events.

Ultrasound thyroid evaluation in thalassemic patients: correlation between the aspects of thyroidal stroma and function.

Hypothyroidism is one of the most common endocrine complications in thalassemic patients, usually appearing in the second decade of life related to iron overload. Ultrasonography is one of the techniques most frequently used to evaluate the volume and structure of the gland. The aim of the present work was to evaluate the possible correlation between thyroid function and its appearance on ultrasound in 45 thalassemic patients. We found reduced antero-posterior diameter of the thyroid in 12 patients (26.6%), reduced echogenicity of the glandular tissue in 24 patients (46.6%), and diffuse spotty echogenicity in 15 patients (33.3%). In our opinion, these patterns may be useful to indicate the need for further diagnostic evaluation of thyroid function. Follow-up studies are necessary to confirm this hypothesis.

Influence of myocardial fibrosis and blood oxygenation on heart T2* values in thalassemia patients.

PURPOSE: To determine whether T2* measurements quantifying myocardial iron overload in thalassemia patients are influenced by myocardial fibrosis and blood oxygenation. MATERIALS AND METHODS: Multislice multiecho T2* was performed in 94 thalassemia patients in order to quantify myocardial iron overload. The left ventricle was automatically segmented into a 16-segment standardized heart model, and the T2* value on each segment as well as the global T2* were calculated. Delayed enhanced cardiovascular magnetic resonance (DE-CMR) images were obtained to detect myocardial fibrosis. The blood oxygenation was assessed by the noninvasive measurement of partial pressure of oxygen (pO2). RESULTS: Myocardial fibrosis was detected in 31 patients (33%). The global T2* value in patients with fibrosis was comparable with that of patients without fibrosis (P = 0.88) and T2* values in segments with fibrosis were comparable with those in segments without fibrosis (P = 0.83). The global T2* value was not correlated with the pO2 (Spearman's coefficient of correlation = 0.99). CONCLUSION: Myocardial fibrosis and blood oxygenation did not significantly affect the T2* values. These data further support the use of heart T2* as equivalent of heart iron in the clinical arena.