New imaging features of tuberous sclerosis complex: A 7 T MRI study.

Few in vivo studies have focused on the perivenous association of tubers and iron deposition in the deep gray nuclei in patients with tuberous sclerosis complex (TSC). We investigated this possible relationship in TSC patients using susceptibility weighted imaging (SWI) at 7 T. SWI with high spatial resolution and enhanced sensitivity was performed on 11 TSC patients in comparison with 15 age- and sex-matched healthy controls. The relationship between tubers and veins was evaluated. In addition, the phase images of SWI were processed to produce local field shift (LFS) maps to quantify iron deposition. The mean LFS in the deep gray nuclei was compared between the TSC patients and healthy controls using a covariance analysis. Venous involvement was observed in 211 of the 231 (91.3%) cortical tubers on SWI. The slender tubers often oriented around the long axis of penetrating veins, possibly because cortical tubers typically developed and/or migrated along venous vasculatures. A significant difference in LFS of the thalamus was detected between the TSC patients and healthy controls (3.36 ± 0.50 versus 3.01 ± 0.39, p < 0.01). The new in vivo imaging features observed at 7 T provide valuable insights into the possible venous association of TSC lesions and iron accumulation in the deep gray nuclei. Our results may lead to a better understanding of the pathological changes involved in TSC under in vivo conditions.

FeARH: Federated machine learning with anonymous random hybridization on electronic medical records.

Electrical medical records are restricted and difficult to centralize for machine learning model training due to privacy and regulatory issues. One solution is to train models in a distributed manner that involves many parties in the process. However, sometimes certain parties are not trustable, and in this project, we aim to propose an alternative method to traditional federated learning with central analyzer in order to conduct training in a situation without a trustable central analyzer. The proposed algorithm is called "federated machine learning with anonymous random hybridization (abbreviated as 'FeARH')", using mainly hybridization algorithm to degenerate the integration of connections between medical record data and models' parameters by adding randomization into the parameter sets shared to other parties. Based on our experiment, our new algorithm has similar AUCROC and AUCPR results compared with machine learning in a centralized manner and original federated machine learning.

Clinical Application of 7T Magnetic Resonance Imaging in Patients with Focal Cortical Dysplasia IIa and Epilepsy.

BACKGROUND: Focal cortical dysplasia (FCD) is one of the most important pathogenic findings in patients with extratemporal lobe epilepsy. Magnetic resonance imaging (MRI)-negative is the most important negative factor to predict postoperative seizure freedom; however, FCD-I and part of FCD-IIa are MRI-negative on routine MRI. OBJECTIVES: To explore the diagnostic values of 7T MRI and its new scan sequences in epilepsy patients with FCD-IIa. METHODS: To include patients with focal seizure and suspicious focal abnormal imaging on 3T MRI during preoperative evaluation and perform a 7T MRI scan with white matter-suppressed (WMS) and gray-white matter tissue border enhancement (GWBE) sequences, resective epilepsy surgery, and postoperative pathological finding of FCD-IIa. The preoperative qualitative and localization significance of 7T MRI and 3T MRI in lesions with FCD-IIa was compared, and then, the imaging characteristics of lesions with FCD-IIa on 7T MRI were analyzed. RESULTS: Ten cases were enrolled in this study. Seven tesla MRI presented high spatial resolutions and a high signal-to-noise ratio. WMS and GWBE could selectively suppress the signal of special tissue and improved the possibility of FCD findings. FCD-IIa showed abnormal thickness of gray matter and a blurring border and was hypointense on 7T MRI compared with 3T MRI. Seven patients showed improvement in the qualitative diagnosis strength grade of FCD, and 6 subjects showed improvement in the localization strength grade of the lesion border after careful reading of the 7T MR images. Significant differences were found in the qualitative diagnosis of FCD (p < 0.05) and localization of the lesion border (p < 0.05) between the neuroimaging diagnoses based on 3T MRI and the findings based on 7T MRI. CONCLUSION: 7T MRI with WMS and GWBE sequences shows application value in the preoperative imaging diagnosis of lesions with FCD-IIa in epilepsy patients.

Magnetic resonance imaging of tuberous sclerosis complex with or without epilepsy at 7 T.

PURPOSE: This study was conducted to determine the benefit of magnetic resonance imaging (MRI) at 7 T in detecting structural lesions and previously unidentified abnormalities in patients with tuberous sclerosis complex (TSC). METHODS: Thirteen patients with TSC (8-36 years, seven males) previously diagnosed by 3 T MRI underwent additional imaging at 7 T, which included T1-weighted magnetization-prepared rapid gradient-echo (MPRAGE), T2-weighted turbo spin echo (TSE), SPACE fluid attenuated inversion recovery (FLAIR), susceptibility weighted imaging (SWI), white matter suppressed (WM-suppressed), and gray-white matter tissue border enhancement (GW-TBE) MPRAGE sequences. Subtle lesions, tuberal morphology, and perituberal cortex abnormalities were examined and compared to those observed at 3 T MRI using standard sequences. RESULTS: Improved visualization of TSC lesions was achieved in all subjects at 7 T compared to 3 T imaging, and three subjects received resective surgery. The 7 T T1- and T2-weighted images had high spatial resolution and provided a clear delineation of the perituberal cortex. SWI revealed abnormal blood vessel morphology. WM-suppressed and GW-TBE protocols, adjusted specifically for TSC imaging, aided in visualizing lesions and uncovered more extensive subtle lesions and abnormalities beyond the conventionally detected tubers. CONCLUSIONS: Due to its high spatial resolution and powerful new imaging protocols, 7 T MRI provided a better evaluation of subtle lesions and perituberal details compared with conventional MRI at 3 T, with potential implications for diagnosis and operative treatment of TSC and its related epilepsy.

[Effects of exercise and conjugated linoleic acid on PPARγ in adolescent obese rats].

OBJECTIVE: To explore effects of exercise and conjugated linoleic acid (CLA) on PPARy in adolescent obese male SD rats. METHODS: obese rats were modeled with high fat feeding, 32 obese rats were selected and randomly divided into control group, static + CLA group, exercise-treated group, exercise + CLA treated group. Blood and adipose tissue. were collected after 8 weeks, and blood lipid was measured. PPARγ mRNA gene expression in adipose tissue was tested using qRT-PCR, PPARγ protein expression in adipose tissue by immunohistochemistry, concentration of PPARγ in plasma by ELISA. RESULTS: (1) TC level of static + CLA group and exercise group were lower than the control group (P <0. 05). TG level of the exercise group and exercise group + CLA were lower than the control group, static + CLA group (P <0. 01). LDL-c level of exercise group and exercise + CLA group was higher than the control group (P <0. 05), HDL-c level have no difference in groups. (2) PPAR-γ concentration in plasma in exercise group, exercise + CLA group was higher than the control group and static + CLA group (P <0. 01). Expression of PPARy mRNA in adipose tissue in exercise group, exercise + CLA group was higher than the control group and static + CLA group (P <0. 01). PPARγ concentration in plasma and expression of PPARy mRNA in adipose tissue in static + CLA group were higher than control group but with no statistical significance. (3) The situation of PPARγ protein expression was the same with the expression of PPARγ mRNA. CONCLUSION: 8 weeks of different intervention methods can reduce the concentration of TG and TC in blood lipid index in adolescent obese rats, TG of exercise and exercise + CLA is better decreasing than simply add CLA. Exercise and exercise + CLA can improve the expression of PPARy mRNA and protein in adipose tissue and plasma PPARγ concentration in rats.

[Effects of conjugated linoleic acid and exercise on RBP4 of liver and adipose tissues in adolescent obese rats].

OBJECTIVE: To exploer effects of conjugated linoleic acid and exercise on RBP4 of liver and adipose tissues in adolescent obese rats. METHODS: 8 adolescent SD rats were selected as blank control (C) with normal diet. Obese rats were modeled with high fat feeding for 7 weeks. 32 obese rats were selected and randomly divided into 4 groups: control group (OC), CLA group ( OCC), exercise group (OM), exercise combined with CLA group (OMC). Exercise treatment were performed on animal treadmill with running speed of 21 - 25 m/min, 60 min/every time. For CLA treatment, each rat was fed 1.6 g/kg, one time/day, 5 times/week, for 8 weeks. Animals were anesthesia treated after experiment, blood and body tissues were collected. The content of blood glucose was measured, the insulin sensitivity was calculated, testing the expression of RBP4 mRNA in visceral adipose tissue, expression of RBP4 protein in liver cells and plasma RBP4 concentration. RESULT: (1) Weight, weight growth rate and body fat percentage of OM, OMC groups were lower than OC, OCC groups (P < 0.01). (2) Blood glucose content of OM, OMC groups were significantly lower than OC, OCC groups (P < 0.01), while insulin sensitivity of OM, OMC groups was higher than OC, OCC groups (P < 0.01). (3) Expression of RBP4 mRNA of OM, OMC groups in visceral adipose tissue was lower than OC, OCC groups (P < 0.01). Expression of RBP4 protein of OM, OMC groups in liver cells was significantly lower than OC, OCC groups. RBP4 concentration in plasma of OM, OMC groups was lower than OC, OCC groups (P < 0.01). (4) Weight, weight growth rate, insulin sensitivity of OMC group were higher than OM group, but the percentage of body fat, blood glucose content and the expression of RBP4 were lower than OM group, there were no significant differences between them. CONCLUSION: Simple exercise and exercise combined with CLA conld significantly reduced adolescent obese rats weight, weight growth rate, percentage of body fat, blood glucose content and also reduced RBP4 mRNA expression in visceral adipose tissue, RBP4 protein expression in liver tissue, RBP4 level in plasma,but can increase sensitivity to insulin, in a word, the treatment of exercise and exercise combine with CLA is better than the simple complement of CLA to adolescent obese rats.

[Effects of different intensity exercise on blood glucose, adolescent obesity rats insulin sensitivity and RBP4].

OBJECTIVE: To discuss the effects of different intensity exercise on blood glucose, adolescent obesity rats insulin sensitivity and RBP4. METHODS: The model of rats after 7 weeks, 32 rabbits of obesity prone rats were randomly divided into 4 groups, 8 rats in each group, respectively, control group, low intensity exercise group, moderate intensity exercise group, high intensity exercise group. High strength low in animal treadmill running speed respectively for 15 - 18, 21 - 25 and 28 - 32 m/min, 5 times/week, 60 min/times, for 8 consecutive weeks. Anesthesia for blood and tissue collection after exercise intervention, blood glucose, blood insulin, blood RBP4 concentration, liver RBP4 protein expression and visceral adipose tissue RBP4 mRNA expression. RESULT: The 8 week exercise intervention, low, high strength, in the sugar group was significantly lower than the control group (P < 0.01). Insulin sensitivity was higher than that of the control group (P < 0.01), insulin was lower than the control group difference. Expression of visceral adipose tissue RBP4 mRNA was low, medium and high strength group was lower than the control group, the expression was significantly down regulated (P < 0.01), in the high intensity group, low intensity group lowered significantly (P < 0.01). RBP4 higher than exercise group as control group in the expression of liver tissue protein, in the high intensity group, less the amount of expression. Plasma RBP4 concentration of high strength group was significantly lower than that of the control group (P < 0.01), high strength, low intensity group were lower than those in group (P < 0.01). CONCLUSION: Through the different intensity exercise intervention can reduce blood glucose in obese rats, the plasma RBP4 concentration, improve insulin sensitivity, lower expression of RBP4 mRNA in adipose tissues, liver protein expression decreased, with the exercise intensity increased significantly.

First five generations Chinese family of tuberous scleroses complex due to a new mutation of the TSC1 gene.

Tuberous scleroses complex (TSC) is a rare neurocutaneous syndrome and has autosomal dominant inheritance. However, larger family with TSC is very rare. Here, we report the first five generations family with TSC from China, and localize the pathogenic gene. A boy with TSC and epilepsy underwent preoperative evaluation and epileptic surgery. His TSC family history was gotten, and the clinical data of a Chinese family with TSC were collected in 2016. Complete exons sequencing was performed in the proband and his parents, and whole exons sequence of TSC was performed in the other family members. The family showed autosomal dominant inheritance, and it was the largest reported family with TSC. In this pedigree, there were 14 patients in 5 generations, but only 1 case with epilepsy in them. All of examined patients had TSC 1 gene exon 15 c.1846delG p.A616Pfs*13 mutation. In conclusion, TSC patients with TSC 1 deletion presented mild neurological symptom and rendered larger family.

Long-term outcomes of epilepsy surgery in tuberous sclerosis complex.

Approximately 50% of patients with tuberous sclerosis complex (TSC) present intractable epilepsy, and surgery is an option for those patients. Hereby, we analyze long-term seizure control and neuropsychological outcomes of epilepsy surgery in patients with TSC. Clinical data were retrospectively collected from 66 patients with TSC and epilepsy followed up over 5 years, 51 of whom underwent epilepsy surgery between 2001 and 2011. Reductions in the number of seizures were analyzed at 1-year (1FU), 5-year (5FU), and 10-year (10FU) follow-ups visits after the operation. Influential factors on postoperative seizure free and intelligence quotient (IQ) and quality-of-life (QOL) outcomes were evaluated at 5FU. Resective procedures included 26 tuber resections, 15 lobectomies, and 10 tuber resections and lobectomies. Corpus callosotomies were performed as the adjunctive approach in 11 cases with low IQ. The percentages of seizure-free cases were 74.5% at 1FU, 58.8% at 5FU, and 47.8% at 10FU, and the predictive factor for long-term postoperative seizure freedom was the history of preoperative seizures and preoperative full-scale IQ. Significant improvements were found in performance IQ, full-scale IQ, and QOL in patients from the surgery group, particularly those who were seizure free after the operation. Our study showed that epilepsy surgery in TSC with epilepsy rendered improvements in seizure control, full-scale IQ, and QOL. Satisfactory long-term seizure control was often achieved with an early operation and without mental retardation, and improvements in QOL and IQ were frequently observed in postoperative patients who remained seizure free.