Radiation exposure and clinical outcome in patients undergoing percutaneous intradiscal ozone therapy for disc herniation: Fluoroscopic versus conventional CT guidance.

PURPOSE: To compare technical success, clinical success, complications and radiation dose for percutaneous intradiscal ozone therapy in patients with lumbar disc herniation using fluoroscopic guidance versus conventional computed tomography (CT) guidance. MATERIALS AND METHODS: Between March 2018and March 2021, 124consecutive percutaneous intradiscal ozone therapies wereperformedon111 patients with low back pain (LBP) and/or sciatic pain due to lumbar disc herniation, using fluoroscopic or conventional CT guidance, respectively in 53 and 58 herniated lumbar discs, with at least 1-month follow up. Dose area product (DAP) and dose length product (DLP) were recorded respectively for fluoroscopy and CT, and converted to effective dose (ED). RESULTS: Fluoroscopic and CT groups were similar in terms of patient age (p-value 0.39), patient weight (p-value 0.49) and pre-procedure Oswestry Disability Index (ODI, p-value 0.94). Technical success was achieved in all cases. Clinical success was obtained in 83.02% (44/53) patients in fluoroscopic group and 79.31% (46/58) in CT group. Mean DAP was 11.63Gy*cm2 (range 5.42-21.61). Mean DLP was 632.49mGy-cm (range 151.51-1699). ED was significantly lower in the fluoroscopic group compared toCT group (0.34 vs. 5.53mSv, p = 0.0119). No major complication was registered. Minor complications were observed in 4 cases (2 in fluoroscopic group; 2 in CT group). CONCLUSIONS: Compared to conventional CT guidance, fluoroscopic guidance for percutaneous intradiscal ozone therapy in patients with lumbar disc herniation shows similar technical and clinical success rates, with lower radiation dose. This technique helps sparing dose exposure to patients.

Reversible Valproate-Induced Subacute Encephalopathy Associated With a MT-ATP8 Variant in the Mitochondrial Genome.

Introduction: There are several reported cases of patients developing motor and cognitive neurological impairment under treatment with valproic acid (VPA). We describe a woman who developed a subacute encephalopathy after VPA intake, harboring a mitochondrial DNA variant, previously described as causing VPA sensitivity in one pediatric patient. Material and Methods: A 65-year old woman developed a progressive, severe neurological deterioration after a 3 month treatment with valproate sodium, 800 mg daily. Magnetic resonance spectroscopy (MRS), muscle histochemical analysis and assay of mitochondrial enzymatic activities, and mitochondrial DNA sequencing were performed. Results: Neurological examination showed drowsiness, vertical gaze palsy, inability to either stand or walk, diffuse weakness, increased tendon reflexes. Blood lactate was increased, EEG showed diffuse theta and delta activity, MRI subcortical atrophy and leukoencephalopathy, MRS marked reduction of the NAA spectrum, with a small signal compatible with presence of lactate. Muscle biopsy evidenced presence of ragged red fibers (20%) and reduced COX reactivity. Assay of the muscle enzymatic activities showed multiple deficiencies of the electron transport chain and reduced ATP production. The mt.8393C>T variant in the MT-ATP8 gene was found in homoplasmy. The patient considerably improved after valproate withdrawal. Conclusion: The variant we found has been reported both as a polymorphism and, in a single patient, as related to the valproate-induced encephalopathy. The present case is the first bearing this mutation in homoplasmy. In case of neurological symptoms after starting VPA therapy, once hyperammonemia and liver failure have been ruled out, mtDNA abnormalities should be considered.

Peripheral markers of autophagy in polyglutamine diseases.

Polyglutamine disorders are neurodegenerative diseases that share a CAG repeat expansion in the coding region, resulting in aggregated proteins that can be only degraded through aggrephagy. We measured the expression of autophagy genes in peripheral blood mononuclear cells of 20 patients with Huntington's disease (HD), 20 with spinocerebellar ataxia type 2 (SCA2), and 20 healthy individuals. HD patients showed increased expression of MAP1LC3B (+ 43%; p = 0.048), SQSTM1 (+ 49%; p = 0.002), and WDFY3 (+ 89%; p < 0.001). SCA2 patients had increased expression of WDFY3 (+ 69%; p < 0.001). We show that peripheral markers of autophagy are elevated in polyQ diseases, and this is particularly evident in HD.

Parkinsonism in a pair of monozygotic CADASIL twins sharing the R1006C mutation: a transcranial sonography study.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), the most common hereditary cerebral small vessel disease, is caused by mutations in the NOTCH3 gene on chromosome 19. Clinical manifestations of CADASIL include recurrent transient ischemic attacks, strokes, cognitive defects, epilepsy, migraine and psychiatric symptoms. Parkinsonian features have variably been reported in CADASIL patients, but only a few patients showed a clear parkinsonian syndrome. We studied two patients, a pair of monozygotic twins, carrying the R1006C mutation of the NOTCH3 gene and affected by a parkinsonian syndrome. For the first time in CADASIL patients, we used transcranial sonography (TCS) to assess basal ganglia abnormalities. TCS showed a bilateral hyperechogenic pattern of substantia nigra in one twin, and a right hyperechogenic pattern in the other. In both patients, lenticular nuclei showed a bilateral hyperechogenic pattern, and the width of the third ventricle was slightly increased. The TCS pattern found in our CADASIL patients is characteristic neither for Parkinson's disease, nor for vascular parkinsonism and seems to be specific and related to the disease-specific pathological features.

Benign hereditary chorea: clinical and neuroimaging features in an Italian family.

Benign hereditary chorea is an autosomal dominant disorder characterized by early onset nonprogressive chorea, caused by mutations of the thyroid transcription factor-1 (TITF-1) gene. Clinical heterogeneity has been reported and thyroid and respiratory abnormalities may be present. We describe 3 patients of an Italian family carrying the S145X mutation in the TITF-1 gene with mild motor delay, childhood onset dyskinesias, and subtle cognitive impairment. A child in the third generation presented with congenital hypothyroidism and neonatal respiratory distress. Imaging studies in 2 patients showed mild ventricular enlargement and empty sella at magnetic resonance imaging and hypometabolism of basal ganglia and cortex at 18-Fluoro-2-deoxy-glucose positron emission tomography.