Optimal blood pressure control with fewer antihypertensive medications: Achieved mostly in low-risk hypertensive patients.

Recent studies indicate that intensive blood pressure (BP) targets can be reached with less than two medications. This cross-sectional study, involving 4991 individuals from the Majiapu community, assessed the correlation between BP control and the burden of antihypertensive drugs. Participants on medication were categorized into controlled (BP < 140/90 mm Hg) and uncontrolled (BP ≥ 140/90 mm Hg) groups, with the former further divided into optimal (BP < 130/80 mm Hg) and good control (BP < 140/90 but >130/80 mm Hg) subgroups. Multivariate logistic regression analyzed factors affecting hypertension control across these BP categories. The study found that, 54% of participants had hypertension. Of those treated (62.5%), 55.7% achieved BP control, including 23.15% maintaining BP below 130/80 mm Hg. The average number of antihypertensive medications was 1.61 for the controlled group (with an average BP of 126.6/76 mm Hg) and 1.75 for the uncontrolled group (with an average BP of 150.6/84.0 mm Hg). Additionally, the average number of antihypertensive medications was 1.66 in the good control group and 1.55 in the optimal control group. The uncontrolled group had a higher mean systematic coronary risk estimation (SCORE) of 5.59, against 3.97 and 2.5 in the good and optimal control groups, respectively. Key factors linked to poor BP control included age over 65, male sex, obesity, and former smoking, whereas lipid-lowering medication use was associated with better control. In conclusions, patients needing fewer antihypertensive drugs to achieve stricter targets may have a lower risk profile. Notably, only a small proportion of treated patients are low-risk individuals who can easily achieve BP levels below 130/80 mm Hg.

Validation of the RBP-9801 oscillometric blood pressure monitor in the general population according to the association for the Advancement of Medical Instrumentation/European Society of Hypertension/ International Organization for Standardization Universal Standard.

The aim of this study was to evaluate the accuracy of the single upper-arm cuff oscillometric blood pressure (BP) monitor RBP-9801 developed for office and home BP measurement in the general population according to the Association for the Advancement of Medical Instrumentation/European Society of Hypertension/International Organization for Standardization (AAMI/ESH/ISO) Universal Standard (ISO 81060-2:2018). Subjects were recruited to fulfil the age, gender, BP and cuff distribution criteria of the AAMI/ESH/ISO Universal Standard in general population using the same arm sequential BP measurement method. A total of 105 subjects were recruited and 85 were analyzed. For validation criterion 1, the mean ± SD of the differences between the test device and reference BP readings was 2.3 ± 6.4/3.1 ± 5.8 mmHg (systolic/diastolic). For criterion 2, the SD of the mean BP differences between the test device and reference BP per subject was 5.24/5.03 mmHg (systolic/diastolic). The conclusion is that the RBP-9801 oscillometric device for office and home BP measurement fulfilled all the requirements of the AAMI/ESH/ISO Universal Standard (ISO 81060-2:2018) in the general population and can be recommended for clinic and self-use at home.

Validation of the Raycome model M2 ambulatory blood pressure monitor in the general population according to the Association for the Advancement of Medical Instrumentation/European Society of Hypertension/International Organization for Standardization Universal Standard (ISO 81060-2:2018).

OBJECTIVE: The aim of this study was to evaluate the accuracy of the Raycome model M2 oscillometric upper-arm blood pressure (BP) monitor developed for ambulatory BP measurement in the general population according to the Association for the Advancement of Medical Instrumentation/European Society of Hypertension/International Organization for Standardization (AAMI/ESH/ISO) Universal Standard (ISO 81060-2:2018) at rest and during dynamic exercise. METHOD: Subjects were recruited to fulfill the age, gender, BP and cuff distribution criteria of the AAMI/ESH/ISO Universal Standard in the general population using the same arm sequential BP measurement method. Three cuffs of the test device were used for arm circumference 18-22 cm (small), 22-32 cm (medium) and 32-42 cm (large). RESULTS: For the general validation study, 106 subjects were recruited and 85 were analyzed. For validation criterion 1, the mean ±â€…SD of the differences between the test device and reference BP readings was 0.5 ±â€…6.2/-0.2 ±â€…5.1 mmHg (systolic/diastolic). For criterion 2, the SD of the mean BP differences between the test device and reference BP per subject was 5.23/4.50 mmHg (systolic/diastolic). In the ambulatory validation study ( N  = 35), the mean difference was 0.4 ±â€…5.9/-1.1 ±â€…5.8 mmHg. The Raycome model M2 performed well against the standard in both the general and ambulatory validations and the Bland-Altman plots did not show any systematic variation in the error. CONCLUSION: These data show that the Raycome model M2 monitor meets the requirements of the AAMI/ESH/ISO Universal Standard (ISO 81060-2:2018) and in the ambulatory setting, indicating its suitability for measuring BP in the general population.

Differential expression of ASIP transcripts reveals genetic mechanism underpinning black-tail independence from body plumage in yellow-bodied chickens.

The genetic foundation of chicken body plumage color has been extensively studied. However, little attention has been paid to the inheritance patterns and molecular mechanisms underlying the formation of distal feather colors (tail and wingtip). Differences in these colors are common; for example, the Chinese Huiyang Beard chicken has black tail feathers, but yellow body plumage. Here, the hybrid offspring of Huiyang Beard and White Leghorn chickens were used to study the inheritance patterns of tail-feather color. The expression levels of pigment genes in differently colored feather follicles were analyzed using quantitative real-time PCR. The results showed that genetic regulation of tail-feather color was independent of body-plumage color. The Dominant White locus inhibited eumelanin synthesis in tail feathers without affecting the formation of yellow body plumage, whereas the Silver locus had the opposite effect. The expression of agouti signaling protein (ASIP) gene class 1 transcripts was significantly lower in black tail-feather follicles than in yellow body follicles, whereas tyrosinase-related protein 1 (TYRP1) gene expression was significantly higher in black tail feathers. These differentially expressed genes were confirmed to exert an effect on eumelanin and pheomelanin formation in feathers, thus influencing the regulation of chicken tail-feather color. In conclusion, this study lays the foundation for further research on the genetic mechanisms of regional differences in feather color, contributing to a better understanding of plumage pigmentation in chickens.

A Model Combining Conventional Ultrasound Characteristics, Strain Elastography and Clinicopathological Features to Predict Ki-67 Expression in Small Breast Cancer.

To establish a predictive model incorporating conventional ultrasound, strain elastography and clinicopathological features for Ki-67 expression in small breast cancer (SBC) which defined as maximum diameter less than2 cm. In this retrospective study, 165 SBC patients from our hospital were allocated to a high Ki-67 group (n = 104) and a low Ki-67 group (n = 61). Multivariate regression analysis was performed to identify independent indicators for developing predictive models. The area under the receiver operating characteristic (AUC) curve was also determined to establish the diagnostic performance of different predictive models. The corresponding sensitivities and specificities of different models at the cutoff value were compared. Conventional ultrasound parameters (spiculated margin, absence of posterior shadowing and Adler grade 2-3), strain elastic scores and clinicopathological information (HER2 positive) were significantly correlated with high expression of Ki-67 in SBC (all p < .05). Model 2, which incorporated conventional ultrasound features and strain elastic scores, yielded good diagnostic performance (AUC = 0.774) with better sensitivity than model 1, which only incorporated ultrasound characteristics (78.85%vs. 55.77%, p = .000), with specificities of 77.05% and 62.30% (p = .035), respectively. Model 3, which incorporated conventional ultrasound, strain elastography and clinicopathological features, yielded better performance (AUC = 0.853) than model 1 (AUC = 0.694) and model 2 (AUC = 0.774), and the specificity was higher than model 1 (86.89% vs. 77.05%, p = .001). The predictive model combining conventional ultrasound, strain elastic scores and clinicopathological features could improve the predictive performance of Ki-67 expression in SBC.

Update on the epidemiology, diagnosis, and management of infective endocarditis: A review.

Despite advancements in the diagnosis and treatment of infective endocarditis (IE), the burden of IE has remained relatively high over the past decade. With an ageing population and an increasing proportion of healthcare-associated IE, the epidemiology of IE has undergone significant changes. Staphylococcus aureus has evolved as the most common causative microorganism, even in most low- and middle-income countries. Several imaging modalities and novel microbiological tests have emerged to facilitate the diagnosis of IE. Outpatient parenteral antibiotic treatment and oral step-down antibiotic treatment have become new trends for the management of IE. Early surgical intervention, particularly within seven days, should be considered in cases of IE with appropriate surgical indications. We comprehensively review the updated epidemiology, microbiology, diagnosis, and management of IE.

The association of triglyceride-glucose index and related parameters with hypertension and cardiovascular risk: a cross-sectional study.

The objective of this study was to investigate the association between triglyceride-glucose index (TyG) and related parameters (TyG-BMI, TyG-WC, TyG-WHR, and TyG-WHtR) with hypertension and cardiovascular risk. Additionally, the study aimed to compare the performance of these parameters in identifying patients with hypertension and high cardiovascular risk and determine appropriate indicators for the prediction of cardiovascular risk. Residents from a community in Beijing, China, who underwent health examinations at a regional hospital between December 2011 and August 2012, were recruited. Logistic regression analysis was used to explore the association between each parameter with hypertension and cardiovascular disease (CVD). The receiver operating characteristic curve was used to compare the predictive ability of each parameter in identifying people with hypertension or high cardiovascular risk. A total of 16,834 participants were included. After adjusting for confounders, the highest quartile groups of TyG and related parameters showed a significantly increased risk of hypertension compared to the lowest quartile groups. Among the parameters, TyG-WC exhibited the highest diagnostic efficacy for hypertension [area under the curve (AUC): 0.665, 95% CI: 0.656-0.673] followed by TyG-WHtR, TyG-BMI, TyG-WHR, and TyG index. Similarly, the highest quartile groups of each parameter demonstrated significantly increased risks of high cardiovascular risk compared to the lowest quartile groups. TyG-WHR performed best in distinguishing participants with high cardiovascular risk (AUC: 0.718, 95% CI: 0.710-0.726) followed by TyG-WC, TyG-WHtR, TyG-BMI, and TyG index. In conclusion, TyG-related parameters had independent associations with hypertension and cardiovascular risk. TyG-WHR exhibited the highest efficacy in distinguishing participants with high cardiovascular risk, which might contribute to the primary prevention of CVD.

A nomogram based on the risk factors of cervical lymph node metastasis in papillary thyroid carcinoma coexistent with Hashimoto's thyroiditis.

OBJECTIVE: The purpose of this study was to explore the risk factors of cervical lymph node metastasis(LNM) in papillary thyroid carcinoma(PTC) coexistent with Hashimoto's thyroiditis(HT). METHODS: The clinical data of patients who underwent thyroid operation between November 2016 and January 2020 in our hospital were analyzed retrospectively. The association between sonographic features and the risk factors of cervical LNM in PTC coexistent with HT was analyzed and a nomogram based on the risk factors was built. RESULTS: Age, US features as calcification, blood flow type, distance between thyroid nodule and fibrous capsule were risk factors of cervical LNM(P < 0.05).Size, SWVmax and SWVmean of thyroid nodule, SWVratio between thyroid nodule and thyroid gland were higher in PTCs with LNM than those without LNM(P < 0.05). The ROC curve showed that the cutoff value of SWVratio for predicting LNM was 1.29 (Sensitivity = 0.806, Specificity = 0.775, AUC = 0.823, P < 0.001). Based on the risk factors above, a relevant nomogram prediction model was established. The model verification showed that the C-index of the modeling set was 0.814, indicating that the nomogram model had good predicted accuracy. CONCLUSION: Based on the risk factors above, a relevant nomogram prediction model was established. The model verification showed that the C-index of the modeling set was 0.814, indicating that the nomogram model had good predicted accuracy. The nomogram based on the risk factors above had good prediction ability, which could optimize thyroidectomy and cervical lymph node dissection and improving prognosis.

Effect of weight loss on blood pressure changes in overweight patients: A systematic review and meta-analysis.

To determine quantitative differences between weight loss and changes in clinic blood pressure (BP) and ambulatory BP in patients with obesity or overweight, the authors performed a meta-analysis. PubMed, Embase, and Scopus databases were searched up to June 2022. Studies that compared clinic or ambulatory BP with weight loss were included. A random effect model was applied to pool the differences between clinic BP and ambulatory BP. Thirty-five studies, for a total of 3219 patients were included in this meta-analysis. The clinic systolic blood pressure (SBP) and diastolic blood pressure (DBP) were significantly reduced by 5.79 mmHg (95% CI, 3.54-8.05) and 3.36 mmHg (95% CI, 1.93-4.75) after a mean body mass index (BMI) reduction of 2.27 kg/m2 , and the SBP and DBP were significantly reduced by 6.65 mmHg (95% CI, 5.16-8.14) and 3.63 mmHg (95% CI, 2.03-5.24) after a mean BMI reduction of 4.12 kg/m2 . The BP reductions were much larger in patients with a BMI decrease ≥3 kg/m2 than in patients with less BMI decrease, both for clinic SBP [8.54 mmHg (95% CI, 4.62-12.47)] versus [3.83 mmHg (95% CI, 1.22-6.45)] and clinic DBP [3.45 mmHg (95% CI, 1.59-5.30)] versus [3.15 mmHg (95% CI, 1.21-5.10)]. The significant reduction of the clinic and ambulatory BP followed the weight loss, and this phenomenon could be more notable after medical intervention and a larger weight loss.

Targets and management of hypertension in heart failure: focusing on the stages of heart failure.

Hypertension is highly prevalent worldwide and is the major risk factor for heart failure (HF). More than half of the patients with HF in Asia suffer from hypertension. According to the 2022 American Heart Association/American College of Cardiology/Heart Failure Society of America HF guideline, there are four stages of HF, including at risk for HF (stage A), pre-HF (stage B), symptomatic HF (stage C), and advanced HF (stage D). Given the high prevalence of hypertension as well as HF and the stronger association between hypertension and cardiovascular diseases in Asians compared to the west, measures to prevent and alleviate the progression to clinical HF, especially controlling the blood pressure (BP), are of priority for Asian populations. After reviewing evidence-based studies, we propose a BP target of less than 130/80 mmHg for patients at stages A, B, and C. However, relatively higher BP may represent an opportunity to maximize guideline-directed medical therapy (GDMT), which could potentially result in a better prognosis for patients at stage D. Traditional antihypertensive drugs are the cornerstones for the management of hypertension at stages A and B. Notably, calcium channel blockers (CCBs) are inferior to other drug classes for the preventing of HF, whereas diuretics are superior to others. For patients at stage C, GDMT is essential which also helps the control of BP. In particular, sodium-glucose cotransporter-2 (SGLT2) inhibitors are newer therapies recommended for the treatment of HF and presumably even in hypertension to prevent HF. Regarding patients at stage D, GDMT is also recommended if tolerable and measures should be taken to improve hemodynamics.

Differences of blood pressure measured at clinic versus at home in the morning and in the evening in Europe and Asia: A systematic review and meta-analysis.

Numerous studies have indicated that there might be great differences among different populations in Europe and Asia in terms of home morning and evening blood pressure (BP). Thus, the authors performed a systematic review to determine the quantitative differences of BP measured at clinic versus at home in the morning and in the evening in Europe and Asia. PubMed, Embase, and Scopus databases were searched up to October 2021. Studies that compared clinic BP with home morning and (or) home evening BP in European and Asian populations were included. A random effect model was applied to pool the differences between clinic BP and home morning/evening BP. Thirty-five studies, for a total of 49 432 patients, were included in this meta-analysis. Mean clinic systolic blood pressure (SBP) values were significantly higher than home morning SBP values by 3.79 mmHg (95% CI, 2.77-4.80). The differences were much larger in Europe [(6.53 mmHg (95% CI, 4.10-8.97)] than in Asia [(2.70 mmHg (95% CI, 1.74-3.66)], and the region was a significant predictor for the differences. Mean clinic SBP values were also significantly higher than home evening SBP values by 6.59 mmHg (95% CI, 4.98-8.21). The differences were much smaller in Europe [5.85 mmHg (95% CI, 3.24-8.45)] than in Asia [7.13 mmHg (95% CI, 4.92-9.35)], while age and clinic SBP might contribute to it. Our findings showed that the difference between clinic and home morning SBP was much larger in European than Asian populations, whereas the difference between clinic and home evening SBP was the opposite. The differing characteristics of the region, ethnic, age, and clinic BP might explain the diversities.

Cardiovascular risk assessment tools in Asia.

Cardiovascular disease (CVD) is becoming the most important burden to health care systems in most part of the world, especially in Asia. Aiming at identifying high risk individuals and tailoring preventive treatment, many cardiovascular risk assessment tools have been established and most of them were developed in Western countries. However, these cardiovascular risk assessment tools cannot be used interchangeably without recalibration because of the different risk factor profiles (ie, greater absolute burden of hypertension and lower level of total-cholesterol in Asians and higher prevalence of metabolic disorders in South Asians) and different CVD profiles (higher ratio of stroke/coronary heart disease in Asians) between Western and Asian populations. Original risk models such as Prediction for ASCVD Risk in China (China-PAR) and Japan Arteriosclerosis Longitudinal Study (JALS) score have been developed and well validated for specific countries, while most of countries/regions in Asia are using established models. Due to higher incidence of stroke in Asians, risk factors like hypertension should weigh more in cardiovascular risk assessment comparing with Western populations, but their actual proportions should be based on CVD profiles in specific countries/regions. The authors encourage the development of new cardiovascular risk assessment tools for Asians, if possible. Still, modifying established models with native epidemiological data of risk factor as well as CVD is acceptable in regions where health care resources are insufficient.

Disease causing property analyzation of variants in 12 Chinese families with polycystic kidney disease.

BACKGROUND: Polycystic kidney disease (PKD) is an inherited disease that is life-threatening. Multiple cysts are present in the bilateral kidneys of PKD patients. The progressively enlarged cysts cause structural damage and loss of kidney function. METHODS: This study examined and analyzed 12 families with polycystic kidney disease. Whole exome sequencing (WES) or whole genome sequencing (WGS) of the probands was performed to detect the pathogenic genes. The candidate gene segments for lineal consanguinity in the family were amplified by the nest PCR followed by Sanger sequencing. The variants were assessed by pathogenic and conservational property prediction analysis and interpreted according to the American College of Medical Genetics and Genomics. RESULTS: Nine of the 12 pedigrees were identified the disease causing variants. Among them, four novel variants in PKD1, c.6930delG:p.C2311Vfs*3, c.1216T>C:p.C406R, c.8548T>C:p.S2850P, and c.3865G>A:p.V1289M (NM_001009944.2) were detected. After assessment, the four novel variants were considered to be pathogenic variants and cause autosomal dominant polycystic kidney disease in family. The detected variants were interpreted. CONCLUSION: The four novel variants in PKD1, c.6930delG:p.C2311Vfs*3, c.1216T>C:p.C406R, c.8548T>C:p.S2850P, and c.3865G>A:p.V1289M (NM_001009944.2) are pathogenic variants and cause autosomal dominant polycystic kidney disease in family.

Comparison of Supersonic Shear Wave Imaging-Derived Renal Parenchyma Stiffness Between Diabetes Mellitus Patients With and Without Diabetic Kidney Disease.

This study aims to evaluate the difference in renal parenchyma stiffness assessed by measuring Young's modulus (YM) using a supersonic shear wave imaging (SSI) technique among healthy patients and patients with type 2 diabetes mellitus (DM) with and without diabetic kidney disease (DKD). We analyzed the correlations of YM with clinical information and conventional ultrasound parameters. All patients (N = 124) were divided into three groups: (i) healthy patients (patients without kidney disease or type 2 DM, N = 31); (ii) patients with type 2 DM without kidney disease (N = 38); and (iii) patients with DKD (N = 55). Conventional and SSI ultrasound examinations were performed in all individuals for both kidneys. Then, we recorded renal length, width, parenchyma thickness, interlobar arterial resistive index (RI) and values of mean, mininum and maximum YM. The mean values of these parameters for the left and right kidneys were calculated for statistical analysis. Statistical significance was considered at p < 0.05. Among all ultrasound parameters, the mean YM demonstrated the largest area under the receiver operating characteristic (ROC) curve (0.860). The areas under the ROC curve (AUCs) for renal length, width, parenchyma thickness, interlobar arterial RI, minimum YM and maximum YM were 0.493, 0.616, 0.507, 0.733, 0.848 and 0.794, respectively. The corresponding cutoff value of mean YM was 31.73 kPa, with a sensitivity of 85.5% and a specificity of 71.0%. The mean YM in patients with type 2 DM without kidney disease (31.44 ± 3.83 kPa) was significantly higher than that in the healthy group (26.45 ± 4.32 kPa) and lower than that in the DKD group (37.60 ± 6.56 kPa). Patients with type 2 DM without kidney disease were considered as stage 0 of DKD. Thus, the mean YM in the control group was significantly lower than that in the stage 0, 2, 3, 4 and 5 subgroups. The mean YM in the stage 0-2 subgroups was lower than that in the stage 5 group, and the mean YM in the stage 0 group was lower than that in the stage 4 group. In the DKD group, the mean YM had a positive correlation with cystine-c (r = 0.634), urea (r = 0.596), creatine (r = 0.690), uric acid (r = 0.263), albumin/creatinine ratio (r = 0.428) and the presence or absence of diabetic retinopathy (r = 0.354). The mean YM also had a negative correlation with the estimated glomerular filtration rate (r = -0.657). SSI is a non-invasive method with which to diagnose DKD and has a performance superior to that of conventional ultrasound. In addition, SSI may provide a secondary index for the staging of DKD and the monitoring of renal damage in type 2 DM patients.

Identification of a pathogenic mutation in a Chinese pedigree with polycystic kidney disease.

Polycystic kidney disease (PKD) is a life­threatening inherited disease with a morbidity of 1:500­1,000 worldwide. Numerous progressively enlarging cysts are observed in the bilateral kidneys of patients with PKD, inducing structural damage and loss of kidney function. The present study analyzed one family with PKD. Whole exome sequencing of the proband was performed to detect the pathogenic gene present in the family. Candidate gene segments for lineal consanguinity in the family were amplified by nest polymerase chain reaction, followed by Sanger sequencing. One novel duplication variant (NM_001009944.2:c.9359dupA:p.Y3120_E3121delinsX) and one missense mutation (c.G9022A:p.V3008M) were detected in PKD1. Additionally, the pathogenic substitutions in PKD1 published from the dataset were analyzed. Following analysis and confirmation, the duplication variant NM_001009944.2:c.9359dupA:p.Y3120_E3121delinsX in PKD1, within the polycystin­1, lipoxygenase, α­toxin domain, was considered to be the pathogenic factor in the examined family with autosomal dominant PKD. Additionally, based on the analysis of 4,805 pathogenic substitutions in PKD1 within various regions, the presence of the missense mutation in the N­terminal domain of polycystin­1 may present high pathogenicity in ADPKD.

Thalamocortical dysconnectivity in paroxysmal kinesigenic dyskinesia: Combining functional magnetic resonance imaging and diffusion tensor imaging.

BACKGROUND: Paroxysmal kinesigenic dyskinesia is associated with macrostructural and microstructural abnormalities in the thalamus. OBJECTIVES: To examine functional and structural connectivity of thalamocortical networks in paroxysmal kinesigenic dyskinesia and to further investigate the effect of mutation of the proline-rich transmembrane protein 2 on thalamocortical networks. METHODS: Patients with paroxysmal kinesigenic dyskinesia (n = 20), subdivided into proline-rich transmembrane protein 2-mutated (n = 8) and nonmutated patients (n = 12) and healthy controls (n = 20) underwent resting-state functional MRI and diffusion imaging scan. The functional properties of correlations in neural activity (functional connectivity) and the structural properties of white matter probabilistic tractography (structural connectivity) were analyzed to characterize thalamocortical networks. Furthermore, the effect of proline-rich transmembrane protein 2 mutation on functional and structural connectivity of thalamocortical networks were examined using one-way analysis of variance among three groups. RESULTS: Patients had increased functional and structural connectivity between ventral lateral/anterior thalamic nuclei and a lateral motor area, as compared to controls. This functional connectivity positively correlated with disease duration. Interestingly, proline-rich transmembrane protein 2-mutated patients showed decreased functional connectivity and preserved structural connectivity, between mediodorsal nucleus and prefrontal cortex, compared to nonmutated patients and controls. CONCLUSIONS: Thalamomotor/premotor hyperconnectivity suggests abnormal communication between thalamus and motor cortex in patients. Furthermore, thalamoprefrontal hypoconnectivity in proline-rich transmembrane protein 2-mutated patients might indicate that proline-rich transmembrane protein 2 mutations result in inefficient thalamoprefrontal integration. Our findings facilitate a deeper understanding of the crucial role of thalamocortical dysconnectivity in the pathophysiological mechanisms of paroxysmal kinesigenic dyskinesia. © 2017 International Parkinson and Movement Disorder Society.

Inter-hemispheric Intrinsic Connectivity as a Neuromarker for the Diagnosis of Boys with Tourette Syndrome.

Tourette syndrome (TS) is associated with gross morphological changes in the corpus callosum, suggesting deficits in inter-hemispheric coordination. The present study sought to identify changes in inter-hemispheric functional and anatomical connectivity in boys with "pure" TS as well as their potential value for clinical diagnosis. TS boys without comorbidity (pure TS, n = 24) were selected from a large dataset and compared to age- and education-matched controls (n = 32). Intrinsic functional connectivity (iFC) between bilateral homotopic voxels was computed and compared between groups. Abnormal iFC was found in the bilateral prefronto-striatum-midbrain networks as well as bilateral sensorimotor and temporal cortices. The iFC between the bilateral anterior cingulate cortex (ACC) was negatively correlated with symptom severity. Anatomical connectivity strengths between functionally abnormal regions were estimated by diffusion probabilistic tractography, but no significant between-group difference was found. To test the clinical applicability of these neuroimaging findings, multivariate pattern analysis was used to develop a classification model in half of the total sample. The classification model exhibited excellent classification power for discriminating TS patients from controls in the other half samples. In summary, our findings emphasize the role of inter-hemispheric communication deficits in the pathophysiology of TS and suggest that iFC is a potential quantitative neuromarker for clinical diagnosis.

Decreased Network Efficiency in Benign Epilepsy with Centrotemporal Spikes.

Purpose To investigate the functional connectome alterations in benign epilepsy with centrotemporal spikes with respect to the occurrence of interictal epileptic discharges (IEDs) during functional magnetic resonance (MR) imaging. Materials and Methods This prospective study was approved by the local institutional review board and was HIPAA compliant. All participants were consecutively enrolled with written informed consent. Forty-three right-handed patients were classified into IED (n = 20, 13 girls and seven boys; mean age ± standard deviation, 9.00 years ± 1.95) and non-IED (n = 23, 11 girls and 12 boys; mean age, 10.22 years ± 2.13) groups on the basis of electroencephalographic data simultaneously recorded during resting-state functional MR imaging at 3.0 T. The functional connectome features (estimated with graph theoretical analysis) in patient groups and control subjects who were matched for sex, age, and education level (n = 28, all right-handed, 13 girls and 15 boys; mean age, 10.00 years ± 2.31) were compared by using one-way analysis of variance. Results Patients with IEDs and those without IEDs showed consistently abnormal global topology in their functional networks (ie, decreased global efficiency; P < .05) relative to that of control subjects, with no differences between the two patient groups (P > .05). Decreased regional efficiency and connectivity strength were observed in the patients with IEDs and those without (mainly in the perirolandic and frontal areas) relative to control subjects (P < .05). Moreover, the altered functional features significantly correlated with clinical characteristics (ie, disease duration and age at symptom onset, P < .05). Conclusion These findings suggest that decreased global and regional efficiency are prominent functional deficits in children with benign epilepsy with centrotemporal spikes and can be readily identified with resting-state functional MR imaging, irrespective of IEDs. © RSNA, 2016 Online supplemental material is available for this article.

Globus Pallidus Interna in Tourette Syndrome: Decreased Local Activity and Disrupted Functional Connectivity.

Globus pallidus interna (GPi) is an effective deep brain stimulation site for the treatment of Tourette syndrome (TS), and plays a crucial role in the pathophysiology of TS. To investigate the functional network feature of GPi in TS patients, we retrospectively studied 24 boys with 'pure' TS and 32 age-/education-matched healthy boys by resting state functional magnetic resonance images. Amplitude of low-frequency fluctuation (ALFF) and functional connectivity were used to estimate the local activity in GPi and its functional coordinate with the whole brain regions, respectively. We found decreased ALFF in patients' bilateral GPi, which was also negatively correlated with clinical symptoms. Functional connectivity analysis indicated abnormal regions within motor and motor-control networks in patients (inferior part of sensorimotor area, cerebellum, prefrontal cortex, cingulate gyrus, caudate nucleus, and brain stem). Transcranial magnetic stimulation sites defined by previous studies ("hand knob" area, premotor area, and supplementary motor area) did not show significantly different functional connectivity with GPi between groups. In summary, this study characterized the disrupted functional network of GPi and provided potential regions-of-interest for further basic and clinical studies on TS.

Frequency-Specific Local Synchronization Changes in Paroxysmal Kinesigenic Dyskinesia.

The neurobiological basis of paroxysmal kinesigenic dyskinesia (PKD) is poorly defined due to the lack of reliable neuroimaging differences that can distinguish PKD with dystonia (PKD-D) from PKD with chorea (PKD-C). Consequently, diagnosis of PKD remains largely based on the clinical phenotype. Understanding the pathophysiology of PKD may facilitate discrimination between PKD-D and PKD-C, potentially contributing to more accurate diagnosis. We conducted resting-state functional magnetic resonance imaging on patients with PKD-D (n = 22), PKD-C (n = 10), and healthy controls (n = 32). Local synchronization was measured in all 3 groups via regional homogeneity (ReHo) and evaluated using receiver operator characteristic analysis to distinguish between PKD-C and PKD-D. Cortical-basal ganglia circuitry differed significantly between the 2 groups at a specific frequency. Furthermore, the PKD-D and PKD-C patients were observed to show different spontaneous brain activity in the right precuneus, right putamen, and right angular gyrus at the slow-5 frequency band (0.01-0.027 Hz). The frequency-specific abnormal local synchronization between the 2 types of PKD offers new insights into the pathophysiology of this disorder to some extent.