Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review.

BACKGROUND: Cases of RNF216-related disorder have been reported sporadically. However, the clinical and genetic spectrum of this disorder has not been fully studied. METHODS: We identified an individual with a novel causative RNF216 variant in our institution and reviewed all individuals with causative RNF216 variants in previous reports. The clinical and genetic features of all the described individuals were analysed and summarised. RESULTS: Twenty-four individuals from 17 families with causative RNF216 variants were identified. The mean age at the onset of neurological symptoms was 29.2 years (range 18-49 years). Ataxia (57%) was the most frequent initial symptoms in individuals under 30 years old, while chorea (63%) was the most frequent initial symptom in individuals over 30 years old. Over 90% of individuals presented with cognitive impairment and hypogonadotropic hypogonadism throughout the disease. White matter lesions (96%) and cerebellar atrophy (92%) were the most common imaging findings. Twenty pathogenic variants in RNF216 were detected. The variants in 12 (71%) families were inherited in a monogenic recessive pattern, whereas the variants in 5 (29%) were inherited in a digenic pattern by acting with variants in other genes. The majority of the RNF216 variants (85%) resulted in amino acid changes or the truncation of the 'RING between RING' (RBR) domain or C-terminal extension. CONCLUSION: RNF216-related disorder is an inherited neuroendocrine disease characterised by cerebellar ataxia, chorea, cognitive impairment and hypogonadotropic hypogonadism. Most causative variants in patients with RNF216-related disorder influence the RBR domain or C-terminal extension of RNF216.

The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.

Genetic leukoencephalopathies (gLEs) are a highly heterogeneous group of rare genetic disorders. The spectrum of gLEs varies among patients of different ages. Distinct from the relatively more abundant studies of gLEs in children, only a few studies that explore the spectrum of adult gLEs have been published, and it should be noted that the majority of these excluded certain gLEs. Thus, to date, no large study has been designed and conducted to characterize the genetic and phenotypic spectra of gLEs in adult patients. We recruited a consecutive series of 309 adult patients clinically suspected of gLEs from Beijing Tiantan Hospital between January 2014 and December 2021. Whole-exome sequencing, mitochondrial DNA sequencing and repeat analysis of NOTCH2NLC, FMR1, DMPK and ZNF9 were performed for patients. We describe the genetic and phenotypic spectra of the set of patients with a genetically confirmed diagnosis and summarize their clinical and radiological characteristics. A total of 201 patients (65%) were genetically diagnosed, while 108 patients (35%) remained undiagnosed. The most frequent diseases were leukoencephalopathies related to NOTCH3 (25%), NOTCH2NLC (19%), ABCD1 (9%), CSF1R (7%) and HTRA1 (5%). Based on a previously proposed pathological classification, the gLEs in our cohort were divided into leukovasculopathies (35%), leuko-axonopathies (31%), myelin disorders (21%), microgliopathies (7%) and astrocytopathies (6%). Patients with NOTCH3 mutations accounted for 70% of the leukovasculopathies, followed by HTRA1 (13%) and COL4A1/2 (9%). The leuko-axonopathies contained the richest variety of associated genes, of which NOTCH2NLC comprised 62%. Among myelin disorders, demyelinating leukoencephalopathies (61%)-mainly adrenoleukodystrophy and Krabbe disease-accounted for the majority, while hypomyelinating leukoencephalopathies (2%) were rare. CSF1R was the only mutated gene detected in microgliopathy patients. Leukoencephalopathy with vanishing white matter disease due to mutations in EIF2B2-5 accounted for half of the astrocytopathies. We characterized the genetic and phenotypic spectra of adult gLEs in a large Chinese cohort. The most frequently mutated genes were NOTCH3, NOTCH2NLC, ABCD1, CSF1R and HTRA1.

Increased Global-Brain Functional Connectivity Is Associated with Dyslipidemia and Cognitive Impairment in First-Episode, Drug-Naive Patients with Bipolar Disorder.

Objectives: Previous researches have demonstrated that abnormal functional connectivity (FC) is associated with the pathophysiology of bipolar disorder (BD). However, inconsistent results were obtained due to different selections of regions of interest in previous researches. This study is aimed at examining voxel-wise brain-wide functional connectivity (FC) alterations in the first-episode, drug-naive patient with BD in an unbiased way. Methods: A total of 35 patients with BD and 37 age-, sex-, and education-matched healthy controls underwent resting-state functional magnetic resonance imaging (rs-fMRI). Global-brain FC (GFC) was applied to analyze the image data. Support vector machine (SVM) was adopted to probe whether GFC abnormalities could be used to identify the patients from the controls. Results: Patients with BD exhibited increased GFC in the left inferior frontal gyrus (LIFG), pars triangularis and left precuneus (PCu)/superior occipital gyrus (SOG). The left PCu belongs to the default mode network (DMN). Furthermore, increased GFC in the LIFG, pars triangularis was positively correlated with the triglycerides (TG) and low-density lipoprotein cholesterol (LDL-C) and negatively correlated with the scores of the Repeatable Battery for the Assessment of Neuropsychological Status (RBANS) coding test and Stroop color. Increased GFC values in the left PCu/SOG can be applied to discriminate patients from controls with preferable sensitivity (80.00%), specificity (75.68%), and accuracy (77.78%). Conclusions: This study found increased GFC in the brain regions of DMN; LIFG, pars triangularis; and LSOG, which was associated with dyslipidemia and cognitive impairment in patients with BD. Moreover, increased GFC values in the left PCu/SOG may be utilized as a potential biomarker to differentiate patients with BD from controls.

Gender difference in vitamin A levels in first-episode drug-naïve depression patients: a case-control and 24-weeks follow-up study.

Depression is one of the major causes of disability in societies worldwide. However, only a few studies have been conducted to analyze the relationship between vitamin A levels and depression. This study aimed to explore the vitamin A levels in the plasma of first-episode drug-naïve depression patients. 48 healthy controls and 75 first-episode drug-naïve outpatients were recruited in our research and a total of 18 patients were followed for 24 weeks. There was no difference in plasma vitamin A levels among healthy controls and patients with depression. After 24 weeks antidepressant treatment, plasma vitamin A levels were decreased. Interestingly, this alteration of vitamin A was only found in female patients. Moreover, correlation analyses showed that plasma vitamin A levels were significantly associated with depressive symptomatic index only in female depression patients. We found that the levels of vitamin A were decreased in female patients with depression during antidepressant therapy. Further study of gender difference in vitamin A levels is needed to reveal the mechanism.

[Progress in diagnosis and treatment of adrenal metastases tumor].

The adrenal gland is a common site of metastases, only second to pulmonary, liver and bone. The prevalence of adrenal metastases in patients with a history of cancer is between 10%-25%.The most common sites of origin are cancers of the lung, kidney, breast, gastrointestinal tract, and skin (melanoma).The mainstays of adrenal metastases diagnosis are computerized tomogramphy (CT), magnetic resonance imaging (MRI), and positron emission tomogramphy (PET). All patients should undergo complete hormonal evaluation to rule out functional adrenal tumors. Adrenal biopsy should be reserved for cases in which the results of non-invasive techniques are equivocal. In patients with isolated adrenal metastases, adrenalectomy is recommended, because of improved overall survival. For the patient with unresectable adrenal metastases tumor, radiotherapy and ablative therapy are feasible and useful methods for controlling adrenal metastases and offer patients opportunities for improved survival.

Neurological and imaging phenotypes of adults with untreated phenylketonuria: new cases and literature review.

OBJECTIVES: Phenylketonuria (PKU) is the most prevalent congenital disease of amino acid metabolism. Neurological manifestations usually complicate PKU in untreated adult patients. This study describes neurological and imaging phenotypes of adult patients with untreated PKU. METHODS: We investigated a cohort of 320 unrelated adult patients with suspected genetic leukoencephalopathies using whole-exome sequencing (WES). We analyzed the phenotypic features of adult PKU patients in our cohort and summarized cases reported in the literature. RESULTS: We identified 10 patients in our cohort and 12 patients in the literature, who presented with neurological manifestations and were diagnosed with PKU in adulthood. Approximately 60% of these patients had onset of clinical features in adulthood. The most common neurological symptoms of patients presenting in adulthood were cognitive disturbance and spastic paralysis, followed by vision loss, cerebellar ataxia, weakness of limbs, and seizure. This differed from that of patients presenting with PKU features in childhood, who consistently had mental retardation with various neurological complications emerging during a broad age range. Imaging findings were similar between patients presenting with clinical features in childhood compared with adulthood, comprising symmetric periventricular white matter hyperintense on T2-weighted imaging and diffusion-weighted imaging predominantly in the parietal and occipital lobes. Also, normal brain imaging and diffuse leukoencephalopathies were observed in both patient groups. CONCLUSION: PKU with clinical features presenting in adulthood is an atypical subtype and should be considered during diagnosis of adults with neurological symptoms and leukoencephalopathy. DWI seems to be most helpful to distinguish patients with PKU. Additionally, we demonstrate that PKU constitutes a part (3.1%) of adult genetic leukoencephalopathies.

Alerting network, cognitive flexibility in children with attention deficit hyperactivity disorder and the moderating effect of neuroticism.

Attention deficit hyperactivity disorder (ADHD) is a prevalent neurodevelopmental disorder, and cognitive flexibility is a sub-component of executive functioning. Studies have shown impairments in cognitive flexibility in ADHD, which is affected by attentional processes. Personality, as a long-standing trait, has a profound effect on ADHD. However, previous studies have not assessed the relationship between attentional function, personality traits, and cognitive flexibility in children with ADHD. This study explored the association between attention networks, personality, and cognitive flexibility in ADHD, filling a gap in the related field. We expect our findings will provide insights into and clues for the prevention and interventional treatment of ADHD. This study primarily aimed to analyze differences in cognitive flexibility between individuals with ADHD and those without and further examine associations between attention networks, personality, and cognitive flexibility in children with ADHD. Overall, 55 children aged 7 to 11 years diagnosed with ADHD and 40 children without ADHD participated in this study. Cognitive flexibility, personality traits, and attentional networks were assessed using the Wisconsin Card Sorting Test, Eysenck Personality Questionnaire, and Attention Network Test, respectively. Additionally, the association between personality traits and strong attentional functioning and cognitive flexibility was investigated using multiple regression analysis. Children with ADHD had significant deficits in cognitive flexibility. A multiple regression analysis revealed that the alerting effect was highly associated with cognitive flexibility at high levels of neuroticism. This association was not salient in individuals with low levels of neuroticism. This study demonstrated that the ADHD group experienced lower cognitive flexibility than the control group. In addition, we showed the effect of neuroticism and alerting networks on cognitive flexibility. These findings may help psychiatrists provide intervention strategies to mitigate the impairment of social functioning in ADHD with cognitive spirituality deficits.

The Sedative Effects of Inhaled Nebulized Dexmedetomidine on Children: A Systematic Review and Meta-Analysis.

Background: Children that need surgery and medical examinations are often uncooperative, and preoperative sedation is necessary. We aimed to assess the safety and efficacy of inhaled nebulized dexmedetomidine in children for sedation that underwent medical examinations or surgery. Methods: We systematically searched PubMed, Web of science, Embase, and Cochrane library, for randomized controlled trials of Intranasal dexmedetomidine using a spray or a mucosal atomization device in children undergoing examination or elective surgery. We included all studies that analyzed the sedation efficiency of intranasal dexmedetomidine in children. Results: Ten studies with 1,233pediatric patients were included. Compared to other sedation treatments, inhaled nebulized dexmedetomidine showed similar sedation satisfaction [risk ratio RR: 1.02; 95% confidence interval (CI): 0.87-1.18; P = 0.83; I2 = 72%]. there was also no statistical difference in the success rate of separation from parents (RR: 0.96; 95% CI: 0.82-1.12; P = 0.58; I2 = 67%), and mask acceptability (RR: 1; 95% CI: 0.83-1.20; P = 0.99; I2 = 35%). But it is worth mentioning that nebulized dexmedetomidine combined with ketamine provided better sedation satisfaction (RR: 0.69; 95% CI: 0.49-0.96; I2 = 49%) and more satisfactory separation from parents (RR: 0.85; 95% CI: 0.74-0.97; I2 = 0%). Moreover, nebulized dexmedetomidine reduced the occurrences of nausea and vomiting (RR: 0.28; 95% CI: 0.15-0.51; P < 0.01; I2 = 10%) and emergence agitation (RR: 0.30; 95% CI: 0.18-0.49; P < 0.01; I2 = 0%). There are no hypotension or arrhythmia reported that required intervention in all articles. Conclusion: Compared to other premedication treatments, inhaled nebulized dexmedetomidine provided equivalent sedation satisfaction for the examination or preoperative sedation of children, but it reduced the occurrences of emergence agitation and postoperative nausea and vomiting.

Serum Neurofilament Light Chain Levels May Be a Marker of Lower Motor Neuron Damage in Amyotrophic Lateral Sclerosis.

Objectives The aims of this study were to investigate whether serum neurofilament light chain (NfL) levels were correlated with the severity of the axonal degeneration of lower motor neurons (LMNs) in the early symptomatic phase of amyotrophic lateral sclerosis (ALS). Methods In this prospective study, the serum samples used for NfL measurement were obtained from 103 sporadic ALS outpatients within 2 years of disease duration. The severity of axonal degeneration was assessed by assessing the decrease in the compound muscle action potentials (CMAPs) within a 1-month interval from serum sampling. Results The NfL levels showed a significant positive correlation with the relative score as a proxy for the axonal damage of LMNs in patients with ALS (coefficient: 0.264, p = 0.009). Furthermore, this correlation became stronger (coefficient: 0.582, p = 0.037) when estimated only among patients with disease subtypes that involve only LMNs, that is, patients with flail arm or leg syndrome (FAS or FLS). The levels of NfL increased with the severity of axonal damage of LMNs (F = 6.694, P = 0.0001). Conclusions Serum NfL levels mirrored the severity of the axonal degeneration of LMNs, particularly in patients with signs of predominant LMN involvement. These results may have a profound effect on the selection of patients and the monitoring of treatment efficacy in future disease-modifying clinical trials.

Omega-3 Polyunsaturated Fatty Acids Supplementation Alleviate Anxiety Rather Than Depressive Symptoms Among First-Diagnosed, Drug-Naïve Major Depressive Disorder Patients: A Randomized Clinical Trial.

Background: Omega-3 polyunsaturated fatty acids (n-3 PUFAs) augmentation of antidepressants has shown great potential in the prevention and treatment of major depressive disorders (MDD). Objective: To investigate the effect of n-3 PUFAs plus venlafaxine in patients with first-diagnosed, drug-naïve depression. Method: A total of 72 outpatients with first-diagnosed depression were recruited. The daily dose of 2.4 g/day n-3 PUFAs or placebo plus venlafaxine was used for over 12 weeks. The outcomes were assessed by the Hamilton depression scale (HAMD), Hamilton anxiety scale (HAMA), Beck depression inventory (BDI), and Self-rating anxiety scale (SAS). Results: Both groups exhibited improvement on clinical characteristics at week 4 and week 12 compared with baseline. The rate of responders for anxiety in n-3 PUFAs group (44.44%) was significantly higher than that in placebo group (21.21%) at week 4 (χ2 = 4.182, p = 0.041), while week 12 did not show a difference (χ2 = 0.900, p = 0.343). The rate of responders for depression at both week 4 (χ2 = 0.261, p = 0.609) and week 12 (χ2 = 1.443, p = 0.230) showed no significant difference between two groups. Further analysis found that Childhood Trauma Questionnaire (CTQ) had positive correlation with HAMA (r = 0.301, p = 0.012), SAS (r = 0.246, p = 0.015), HAMD (r = 0.252, p = 0.038) and BDI (r = 0.233, p = 0.022) with Pearson correlation analysis. Social Support Rating Scale (SSRS) had negative correlation with SAS (r = -0.244, p = 0.015) and BDI (r = -0.365, p = 0.000). Conclusion: This trial found that n-3 PUFAs supplementation in favor of venlafaxine alleviated the anxiety symptoms rather than depressive symptoms at the early stage of treatment (4 weeks) for first-diagnosed, drug-naïve depressed patients. However, the advantage disappeared in long-term treatment. Furthermore, childhood abuse and social support are closely related to the clinical and biological characteristics of depression. Both childhood trauma and lack of social support might be predictors of poor prognosis in depression. Clinical Trial Registration: [clinicaltrials.gov], identifier [NCT03295708].

Sex difference in lipid levels in first-diagnosed drug-naïve depression patients: A case-control and 12-weeks follow-up study.

AIM: Patients with depression have a high prevalence of developing dyslipidemia. In this study, we aim to investigate the difference of serum lipids, including total cholesterol (TCH), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), and triglycerides (TG), between the depressed patients and healthy controls. Sex differences in lipids and their psychological correlations were also included. METHODS: The study included 56 healthy controls (males/females = 26/30) and 110 first-diagnosed drug-naïve outpatients (males/females = 35/75). A total of 42 patients (males/females = 14/28) were followed for 3 months. RESULTS: A significant difference was found in TCH and LDL-C among healthy control and patients. Interestingly, female patients with first-diagnosed, drug-naïve depression had lower atherogenic indices than male patients. After 3 months of antidepressants therapy, female patients exhibited detrimental changes in serum lipids, namely increased TG and atherogenic index. Moreover, correlation analysis showed significant correlations between changes of depression inventory (HAMD and BDI) score and serum lipids (TCH, HDL-C) in depressed patients. CONCLUSION: We found that dyslipidemia was more common in female patients with depression during therapy with antidepressants. Moreover, the altered serum lipids and atherogenic index might be a hallmark of female patients. Further investigation of sex differences in lipid metabolism of depression is warranted.

Cerebral glucose metabolism in bipolar disorder: A voxel-based meta-analysis of positron emission tomography studies.

BACKGROUND: Previous positron emission tomography studies have reported the changes of cerebral glucose metabolism in bipolar disorder. However, the findings across studies remain controversial, containing differing results. METHODS: A systematic literature search of the PubMed, Embase, Cochrane Library, and Web of Science databases was conducted. We conducted a voxel-wide meta-analysis of cerebral glucose metabolism studies, using the seed-based mapping approach, in patients with bipolar disorder (BD). RESULTS: We identified 7 studies suitable for inclusion, which included a total of 126 individuals with BD and 160 healthy controls. The most consistent and robust findings were an increase in cerebral glucose metabolism in the right precentral gyrus and a decrease in the left superior temporal gyrus, left middle temporal gyrus, and cerebellum. Additionally, the sex distribution and illness duration had significant moderating effects on cerebral glucose metabolism alterations. CONCLUSIONS: Cerebral glucose metabolism alterations in these brain regions are likely to reflect the disease-related functional abnormalities such as emotion and cognition. These findings contribute to a better understanding of the neurobiological underpinnings of bipolar disorder. LIMITATIONS: This study was done at a study level and cannot be addressed at the patient level. Subgroup analysis of BD I and BD II is not possible due to limited literature data.

Accessibility of mental health support in China and preferences on web-based services for mood disorders: A qualitative study.

BACKGROUND: The fast development of mobile technologies provides promising opportunities to fulfill the largely unmet needs of treatment and recovery for mood disorders in China. However, with limited research from China, the development of acceptable and usable web-based mental health services that are based on preference of patients from China still remains a challenge. OBJECTIVE: The aims of this paper were to (1) understand the experience of patients with mood disorders on current accessibility of mental health support in China; and (2) to get insights on patients' preferences on web-based mental health services, so as to provide suggestions for the future development of web-based mental health services for mood disorders in China. METHODS: Semi-structured interviews were conducted with 10 female participants diagnosed with depression and 7 with bipolar disorder (5 female and 2 male) via the audio chat function of WeChat. The interviews were 60-90 min long and were audio-recorded and transcribed verbatim. Thematic analysis was conducted using QSR NVivo 12 to identify and establish themes and sub-themes. RESULTS: Two major sections of results with a total of 5 themes were identified. The first section was participants' treatment and recovery experience, which included three main themes: (1) professional help seeking experience; (2) establishment of self-help strategies; and (3) complex experiences from various source of social support. The second section was focused on preferences for web-based services, which were divided into two themes: (1) preferred support and features, with three sub-themes: as channels to access professionals, as databases for self-help resources, and as sources of social support; and (2) preferred modality. CONCLUSIONS: The access to mental health support for personal recovery of mood disorders in China was perceived by participants as not sufficient. Web-based mental health services that include professional, empathetic social support from real humans, and recovery-oriented, personalized self-help resources are promising to bridge the gap. The advantages of social media like WeChat were emphasized for patients in China. More user-centered research based on social, economic and cultural features are needed for the development of web-based mental health services in China.

Effects of Sugammadex versus Neostigmine on Intraoperative Coagulation Profiles in Patients with Thyroidectomy.

BACKGROUND: Sugammadex has been a revolutionary reversal of neuromuscular blockade. It is known to be highly efficient. However, a change in the coagulation profile is one of the most dangerous potential complications which is a concern for both surgeon and anesthetist. Bleeding may cause hypovolemic shock, hematoma, and so on. To investigate the effects of sugammadex on coagulation profiles in patients with thyroidectomy, we compared patients that were treated with either sugammadex or neostigmine. PATIENTS AND METHODS: Eighty patients with thyroid neoplasms undergoing thyroidectomy were randomly allocated to sugammadex group (group S) or neostigmine group (group N). Induction of anesthesia was preformed using propofol, sufentanil, and rocuronium. Group S received sugammadex 2.0mg/kg after trachea intubation, similarly Group N received neostigmine 40 µg/kg, for reversal of rocuronium-induced neuromuscular blockade. The intraoperative coagulation profiles were monitored after the rocuronium injection (T0), 10 minutes after reversal (T1) and 30 minutes after reversal (T2) by testing activated partial thromboplastin time (APTT), prothrombin time (PT), fibrinogen (FIB), thrombin time (TT), and TEG-Haemonetics. Amount of bleeding was recorded during perioperative period. RESULTS: There was no significant difference in the thromboelastogram, APTT, PT, FIB, or TT measurements at each time point in Group N. The reaction time (R time) and kinetics time (K time) of Group S in T1 were significantly longer than the corresponding times at T0 and T2, and the R times were significantly longer than those in Group N at the same time points (P<0.05). Additionally, in Group S, the APTT was prolonged in T1 and returned to normal in T2. CONCLUSION: The result showed that sugammadex provided transient efficacy in prolonging the coagulation parameters, while neostigmine did not change the coagulation profile.

Altered Fractional Amplitude of Low-Frequency Fluctuation in Major Depressive Disorder and Bipolar Disorder.

Background: Discriminating between major depressive disorder (MDD) and bipolar disorder (BD) remains challenging and cognitive deficits in MDD and BD are generally recognized. In this study, the fractional amplitude of low-frequency fluctuation (fALFF) approach was performed to explore neural activity and cognition in first-episode, drug-naïve BD and MDD patients, as well as the relationship between altered fALFF values and clinical or psychometric variables. Methods: A total of 21 BD patients, 25 MDD patients, and 41 healthy controls (HCs) completed clinical assessments and resting-state functional magnetic resonance imaging (rs-fMRI) scans in this study. The rs-fMRI data were analyzed by fALFF method and Pearson correlation analyses were performed between altered fALFF values and clinical variables or cognition. Support vector machine (SVM) was adopted to identify the three groups from each other with abnormal fALFF values in the brain regions obtained by group comparisons. Results: (1) The fALFF values were significantly different in the frontal lobe, temporal lobe, and left precuneus among three groups. In comparison to HCs, BD showed increased fALFF values in the right inferior temporal gyrus (ITG) and decreased fALFF values in the right middle temporal gyrus, while MDD showed decreased fALFF values in the right cerebellar lobule IV/V. In comparison to MDD, BD showed decreased fALFF values in bilateral posterior cingulate gyrus and the right cerebellar lobule VIII/IX. (2) In the BD group, a negative correlation was found between increased fALFF values in the right ITG and years of education, and a positive correlation was found between decreased fALFF values in the right cerebellar lobule VIII/IX and visuospatial abilities. (3) The fALFF values in the right cerebellar lobule VIII/IX may have the ability to discriminate BD patients from MDD patients, with sensitivity, specificity, and accuracy all over 0.70. Conclusions: Abnormal brain activities were observed in BD and MDD and were related with cognition in BD patients. The abnormality in the cerebellum can be potentially used to identify BD from MDD patients.

Low BDNF levels in serum are associated with cognitive impairments in medication-naïve patients with current depressive episode in BD II and MDD.

OBJECTIVE: This study aimed to investigate the role of Brain-derived neurotrophic factor (BDNF) in clinical and cognitive outcomes in medication-naïve patients with Bipolar type II disorder (BD II) and Major depressive disorder (MDD). METHODS: 45 outpatients with BD II, 40 outpatients with MDD and 40 healthy controls (HCs) were recruited, and sociodemographic and clinical data were collected. Their BDNF serum levels were measured and analyzed with the Repeatable Battery for the Assessment of Neuropsychological Status (RBANS). RESULTS: BDNF levels were significantly lower in BD II patients than in MDD patients and HCs (p = 0.001). BD II and MDD patients had similar cognitive performance deficits shown on Attention (p = 0.001), Delayed memory (p = 0.001), and RBANS total score (p = 0.001). BDNF levels were positively associated with Visuospatial / constructional and Stroop color-word in BD II group, and with language in MDD group. The area under the curve (AUC) of the ROC analysis in BD II vs. MDD was 0.664, therefore, BDNF levels could not distinguish BD II from MDD. CONCLUSION: Our study showed the decreased serum BDNF in MDD and BD II patients, suggesting BDNF may be involved in the pathophysiology of MDD and BD II. BDNF and cognitive deficits are both of low efficiency in distinguishing BD II from MDD. Decrease of BDNF may potentially indicate cognitive dysfunction in BD II and MDD patients with a current depressive episode.

Global Functional Connectivity Analysis Indicating Dysconnectivity of the Hate Circuit in Major Depressive Disorder.

BACKGROUND: Abnormalities of functional connectivity (FC) in certain brain regions are closely related to the pathophysiology of major depressive disorder (MDD). Findings are inconsistent with different presuppositions in regions of interest. Our research focused on voxel-wise brain-wide FC changes in patients with MDD in an unbiased manner. METHOD: We examined resting-state functional MRI in 23 patients with MDD and 26 healthy controls. Imaging data were analyzed by using global-brain FC (GFC) and used to explore the correlation of abnormal GFC values with clinical variables. RESULTS: Increased GFC values in the left medial superior frontal gyrus (SFGmed) and decreased GFC values in the right supplementary motor area (SMA) were observed in the patients with MDD compared with the controls. The decreased GFC values in the right SMA had a positive correlation with vitamin D and Hamilton Anxiety Scale (HAM-A) scores. CONCLUSION: Abnormal GFC in the hate circuit, particularly increased GFC in the left SFGmed and decreased GFC in the right SMA, appears to be a new sight for comprehending the pathological alterations in MDD.

Dissociation Pattern in Default-Mode Network Homogeneity in Drug-Naive Bipolar Disorder.

Default mode network (DMN) plays a key role in the pathophysiology of in bipolar disorder (BD). However, the homogeneity of this network in BD is still poorly understood. This study aimed to investigate abnormalities in the NH of the DMN at rest and the correlation between the NH of DMN and clinical variables in patients with BD. Forty drug-naive patients with BD and thirty-seven healthy control subjects participated in the study. Network homogeneity (NH) and independent component analysis (ICA) methods were used for data analysis. Support vector machines (SVM) method was used to analyze NH in different brain regions. Compared with healthy controls, significantly increased NH in the left superior medial prefrontal cortex (MPFC) and decreased NH in the right posterior cingulate cortex (PCC) and bilateral precuneus were found in patients with BD. NH in the right PCC was positively correlated with the verbal fluency test and verbal function total scores. NH in the left superior MPFC was negatively correlated with triglyceride (TG). NH in the right PCC was positively correlated with TG but negatively correlated with high-density lipoprotein cholesterol (HDL-C). NH in the bilateral precuneus was positively correlated with cholesterol and low-density lipoprotein cholesterol (LDL-C). In addition, NH in the left superior MPFC showed high sensitivity (80.00%), specificity (71.43%), and accuracy (75.61%) in the SVM results. These findings contribute new evidence of the participation of the altered NH of the DMN in the pathophysiology of BD.

Sex differences in the cognitive function of first-diagnosed, drug-naïve depressed patients: An observational case-control study.

BACKGROUND: Major depressive disorder (MDD) is a severe mental illness with high prevalence and recurrence rates. Cognitive impairments are found in most depressed patients, but systematic assessment of sex differences in cognitive deficits remains to be investigated. METHODS: A total of 69 first-diagnosed, drug-naïve depressed outpatients (males/females = 28/41; average age: 27.51±8.82 years) and 57 healthy controls (HCs) (males/females = 26/31; average age: 29.05±8.69 years) were recruited. Cognitive function, measured by repeatable battery for the assessment of neuropsychological status [RBANS] scores, was compared between depressed patients and healthy controls in males and females. RESULTS: Immediate memory, delayed memory and RBANS total score were significantly decreased in depressed patients compared with healthy controls. Moreover, among patients with first-diagnosed, drug-naïve depression, females had lower visuospatial and constructional scores than males, whereas among controls, females had higher language scores than males. Interestingly, impaired attention was negatively associated with the Beck Depression Inventory-II (BDI-II) score in female patients, but not in male patients. CONCLUSION: Female patients with first-diagnosed, drug-naïve depression had more serious cognitive impairment than male patients in the visuospatial and constructional categories. Cognitive impairment was associated with depression severity only in female patients. These observations build the basis for future investigation of sex differences in cognitive impairment of depressed patients.

Disrupted Regional Homogeneity in Drug-Naive Patients With Bipolar Disorder.

OBJECTIVE: Studies on alterations in the regional neural activity in the brain of patients with bipolar disorder (BD) have provided conflicting results because of different medications used and study designs. A low bone mineral density (BMD) is also observed in patients with BD. This study aimed to further explore regional neural activities in unmedicated patients with BD and their association with BMD. METHODS: In this study, 40 patients with BD and 42 healthy controls were scanned through resting-state functional magnetic resonance imaging (fMRI). Imaging data were analyzed with regional homogeneity (ReHo) and pattern classification. Pearson's correlation analyses were performed to explore the correlations between abnormal ReHo and BMD. RESULTS: A significant increase in ReHo values in the left inferior frontal gyrus (IFG)/temporal pole, left cerebellum vermis I/vermis II/parahippocampal gyrus/brainstem, and right superior temporal gyrus (STG) and a decrease in ReHo in the occipital gyrus (OG; left middle OG/superior OG/bilateral cuneus) were found in the patients with BD (p < 0.05) compared with those in the healthy controls. No significant correlation was observed between the abnormal ReHo values in any of the brain regions of the patients with BMD.Support vector machine (SVM) analyses revealed that the ReHo values in the right STG for distinguishing patients from healthy controls showed an accuracy of 91.89%, a sensitivity of 75.68%, and a specificity of 83.78%. The ReHo values in the left cerebellum vermis I/vermis II/parahippocampal gyrus/brainstem indicated an accuracy of 78.38%, a sensitivity of 75.68%, and a specificity of 81.08%. CONCLUSION: This study further confirms the abnormal brain activities in extensive regions, and these brain regions are primarily located in the fronto-temporal-occipital circuit and the cerebellum vermis of patients with BD. The regional neural activity in the right STG and the left cerebellum vermis I/vermis II/parahippocampal gyrus/brainstem may serve as potential imaging markers to distinguish patients with BD from healthy controls.