CircBIRC6 facilitates the malignant progression via miR-488/GRIN2D-mediated CAV1-autophagy signal axis in gastric cancer.

Circular RNAs (circRNAs) represent a novel class of non-coding RNAs that play significant roles in tumorigenesis and tumor progression. High-throughput sequencing of gastric cancer (GC) tissues has identified circRNA BIRC6 (circBIRC6) as a potential circRNA derived from the BIRC6 gene, exhibiting significant upregulation in GC tissues. The expression of circBIRC6 is notably elevated in GC patients. Functionally, it acts as a molecular sponge for miR-488, consequently upregulating GRIN2D expression and promoting GC proliferation, migration, and invasion. Moreover, overexpression of circBIRC6 leads to increased GRIN2D expression, which in turn enhances caveolin-1 (CAV1) expression, resulting in autophagy deficiency due to miR-488 sequestration. This cascade of events significantly influences tumorigenesis in vivo. Our findings collectively illustrate that the CircBIRC6-miR-488-GRIN2D axis fosters CAV1 expression in GC cells, thereby reducing autophagy levels. Both circBIRC6 and GRIN2D emerge as potential targets for treatment and independent prognostic factors for GC patients.

Subjective and objective cognitive functioning in untreated late-life depression: An exploration centered on comorbid generalized anxiety disorder.

BACKGROUND: Late-Life Depression (LLD) is a prevalent mental health disorder that is often accompanied by cognitive impairments. The objective of this study is to investigate the influence of coexisting Generalized Anxiety Disorder (GAD) on both subjective and objective cognitive abilities in untreated LLD individuals. METHODS: A total of 77 participants aged 60 years and above were recruited for this study, comprising 31 individuals with Major Depressive Disorder (LLD group), 46 with MDD and coexisting Generalized Anxiety Disorder (LLDA group), and 54 healthy controls (HC). Prior to the study, all patients had abstained from psychotropic medication for a minimum of two weeks. Comprehensive neuropsychological assessments were administered to all participants. RESULTS: The LLDA group exhibited substantial disparities in memory, attention, processing speed,executive function,overall cognitive functioning, and subjective cognitive functioning when compared to the HC group. The LLD group displayed deficits in memory, SCWT-W in attention, SCWT-C in processing speed,overall cognitive functioning, and subjective cognitive functioning in comparison to the healthy controls. Although the LLD group achieved lower average scores in executive function, TMTA in processing speed, and DSST in attention than the HC group, no significant distinctions were identified between these groups in these domains. Linear regression analysis unveiled that anxiety symptoms had a significant impact on subjective cognitive deficits among MDD patients, but exhibited a milder influence on objective cognitive performance. After adjusting for the severity of depression, anxiety symptoms were found to affect TMTA in processing speed and subjective cognitive functioning in LLD patients. CONCLUSION: Late-Life Depression (LLD) exhibits pervasive cognitive impairments, particularly in individuals with generalized anxiety disorder, presenting a crucial target for future therapeutic interventions. Among elderly individuals with depression, anxiety symptoms significantly impact subjective cognitive functioning, suggesting its potential utility in distinguishing between depression-associated cognitive decline and pre-dementia conditions.

Combined effects of pre-pregnancy BMI and gestational weight gain on preterm birth: comparison between spontaneous and ART conception.

BACKGROUND: Inappropriate pre-pregnancy body mass index (BMI) and gestational weight gain (GWG) are both linked to preterm birth (PTB); however, which one plays a dominant role in PTB risk is not yet sure. We aimed to evaluate the combined effect of pre-pregnancy BMI and GWG on the risk of PTB in singleton pregnancies conceived both spontaneously and through assisted reproductive technology (ART). METHODS: The data included all mothers (n = 17,540,977) who had a live singleton birth from the US National Vital Statistics System (NVSS) 2015-2019. Logistic regression models, quantile-g-computation, and generalized additive model were used to analyze the combined association of pre-pregnancy BMI and GWG with PTB. RESULTS: The singleton PTB rate was significantly higher in ART pregnancies (11.5%) than in non-ART pregnancies (7.9%). When compared to those women with pre-pregnancy normal weight and GWG within Institute of Medicine (IOM) guidelines, the highest PTB risk was observed in non-ART women with pre-pregnancy underweight and GWG below IOM guidelines (aOR 2.56; 95% CI 2.53-2.60) and in ART women with pre-pregnancy obese and GWG below IOM guidelines (aOR 2.56; 95%CI 2.36-2.78). GWG dominated the combined effect with its joint effect coefficient of - 0.281 (P < 0.05) in non-ART women and - 0.108 (P < 0.05) in ART women. CONCLUSIONS: Inappropriate GWG played a dominant role in increasing the risk of PTB in both non-ART and ART populations. Counseling regarding pre-pregnancy BMI and especially GWG appears to be even more crucial for pregnancies conceived via ART, given their impact on PTB.

Upper respiratory tract microbiota is associated with small airway function and asthma severity.

BACKGROUND: Characteristics of airway microbiota might influence asthma status or asthma phenotype. Identifying the airway microbiome can help to investigate its role in the development of asthma phenotypes or small airway function. METHODS: Bacterial microbiota profiles were analyzed in induced sputum from 31 asthma patients and 12 healthy individuals from Beijing, China. Associations between small airway function and airway microbiomes were examined. RESULTS: Composition of sputum microbiota significantly changed with small airway function in asthma patients. Two microbiome-driven clusters were identified and characterized by small airway function and taxa that had linear relationship with small airway functions were identified. CONCLUSIONS: Our findings confirm that airway microbiota was associated with small airway function in asthma patients.

Octapeptide repeat alteration mutations of the prion protein gene in clinically diagnosed Alzheimer's disease and frontotemporal dementia.

Studies focusing on octapeptide repeat alteration mutations in PRNP in Alzheimer's disease (AD) and frontotemporal dementia (FTD) cohorts have been rare. We aim to screen sporadic AD and FTD patients with unknown etiology for the octapeptide repeat insertions and deletions in PRNP. Two hundred and six individuals were screened for alterations to the repeat region in the PRNP gene, including 146 sporadic AD and 60 sporadic FTD patients. Our study showed a 1.5% (3/206) occurrence of the octapeptide repeat alteration mutations in PRNP in a Chinese cohort of sporadic dementia. One late-onset FTD patient and one early-onset AD patient each had a two-octapeptide repeat deletion in PRNP, while one early-onset AD patient had a five-octapeptide repeat insertion mutation. PRNP octapeptide repeat alteration mutations are present in sporadic AD and FTD patients. The genetic investigation for PRNP octapeptide repeat alteration mutations in sporadic dementia patients should be carried out in future clinical studies.

Airway Microbiome Composition and Co-Occurrence Network Are Associated with Inflammatory Phenotypes of Asthma.

INTRODUCTION: The composition and co-occurrence network of the airway microbiome might influence the asthma inflammatory phenotype. Airway microbiota change with asthma phenotypes, and the structure of the bacterial community in the airway might differ between different asthma inflammatory phenotypes and may also influence therapy results. Identifying airway microbiota can help to investigate the role that microbiota play in the asthma inflammatory process. METHODS: Induced sputum from 55 subjects and 12 healthy subjects from Beijing, China, was collected and analyzed for bacterial microbiota. Microbiome diversity, composition, co-occurrence networks, and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways were predicted and compared between the study groups. RESULTS: Significant differences in the sputum microbiome composition, co-occurrence network, and predicted functional pathways were observed between the two inflammatory phenotypes. Asthmatics in the low FeNO group exhibited lower α-diversity in the sputum microbiota and had higher abundance of the phylum Proteobacteria compared with that of the high FeNO group. The network in the high FeNO group was more "closed" and "connected" compared with that of the low FeNO group, and an alteration in the abundance of keystone species T. socranskii was found. Significantly different predicted metabolic subfunctions including nucleotide metabolism, lipid metabolism, energy metabolism, replication and repair, and drug resistance antimicrobial and carbohydrate metabolism between the two studied phenotypes were also observed. CONCLUSION: Our findings confirm that the airway microbiota is associated with the asthma inflammation process. The differences in the airway microbiome composition and co-occurrence network may affect distinct asthma inflammatory phenotypes, suggesting the possibility that more targeted therapies could be applied based on the airway bacterial genera.

Heart rate variability changes in patients with obstructive sleep apnea: A systematic review and meta-analysis.

Obstructive sleep apnea is a common sleep breathing disorder related to autonomic nervous function disturbances. Heart rate variability is an important non-invasive indicator of autonomic nervous system function. The PubMed, Embase, Medline and Web of Science databases were systematically searched for English literature comparing patients with obstructive sleep apnea with controls up to May 2021. Heart rate variability outcomes, including integrated indices (parasympathetic function and total variability), time domain indices (the standard deviation of NN intervals and the root mean square of the successive differences between normal heartbeats) and frequency domain indices (high-frequency, low-frequency, very-low-frequency and the ratio of low-frequency to high-frequency) were derived from the studies. Twenty-two studies that included 2565 patients with obstructive sleep apnea and 1089 healthy controls were included. Compared with controls, patients with obstructive sleep apnea exhibited significantly reduced parasympathetic function. For the obstructive sleep apnea severity subgroup meta-analysis, patients with severe obstructive sleep apnea had significantly lower parasympathetic function, high-frequency, root mean square of the successive differences between normal heartbeats and standard deviation of NN intervals, and higher low-frequency and ratios of low-frequency to high-frequency. However, only the ratio of low-frequency to high-frequency was significantly higher in patients with moderate obstructive sleep apnea than in controls. Finally, for the collection time analysis, patients with obstructive sleep apnea had significantly higher low-frequency and ratio of low-frequency to high-frequency at night, significantly lower parasympathetic function, high-frequency, root mean square of the successive differences between normal heartbeats and standard deviation of NN intervals, and a higher ratio of low-frequency to high-frequency during the day than controls. Autonomic function impairment was more serious in patients with severe obstructive sleep apnea. During sleep, low-frequency can well reflect the impairment of autonomic function in obstructive sleep apnea, and the ratio of low-frequency to high-frequency may play an important role in obstructive sleep apnea diagnosis.

Understanding animal-based flavor generation, mechanisms and characterization: Cheddar cheese and bacon flavors.

Natural animal-based flavors have great appeal to consumers and have broad applications in the food industry. In this review, we summarized findings related to bacon and Cheddar cheese flavors' components and their precursors, reaction mechanisms, influential factors, and characterization methods. The results show that free sugars, free amino acids, peptides, vitamins, lipids, and nitrites are precursors to bacon flavor. The conditions governing the formation of bacon flavor are thermally dependent, which facilitates the use of thermal food processing to generate such a flavor. For Cheddar cheese flavor, milk ingredients such as lactose, citrate, fat, and casein are reported as precursors. The optimum conditions to generate Cheddar cheese flavor from precursors are quite strict, which limits its application in food processing. As an alternative, it is more practical to generate Cheddar cheese flavor by combining key aroma compounds using thermal food processing. This review provides the food industry the comprehensive information about the generation of bacon and Cheddar cheese flavors using precursor molecules.

Assessment of the observation management of sialocele after partial superficial parotidectomy.

PURPOSE: This study aimed to investigate the usefulness of management of sialocele formation and to evaluate the quality of life of patients under elective management post-parotidectomy. MATERIALS AND METHODS: A prospective study was performed including patients who underwent postoperative management with either compression therapy or observation. The self-filled questionnaire method was used to assess the quality of life of participants who changed from compression therapy to observation. Demographic and operative data, variables regarding wound complications and scores for quality of life were documented and analysed. RESULTS: A total of 86 patients met the eligibility criteria. The respective rates of sialocele formation within 1 month were 5.3% in the compression therapy group (2/38) and 16.0% in the observation group (4/25), but no significant difference was observed (p = 0.204). Meanwhile, both groups displayed comparable times of needle aspiration and time for sialocele resolution (p > 0.05). Based on 23 valid paired questionnaires, scores for physical and social-emotional function before changing from compression therapy to observation were significantly lower than scores after the change (p < 0.001). CONCLUSION: The application of observation after partial superficial parotidectomy appears to have acceptable clinical outcomes and considerable improvements in quality of life.

Comorbidity among inpatients with dementia: a preliminary cross-sectional study in West China.

OBJECTIVE: To investigate comorbidities among hospitalized patients with dementia. METHOD: Data were extracted from the discharge records in our hospital. Comorbidities based on ICD-10 were selected from the Charlson Comorbidity Index (CCI) and Elixhauser Comorbidity Index (ECI). The distributions of these comorbidities were described in dementia inpatients and age- and sex-matched nondementia controls, as well as in inpatients with Alzheimer's disease and vascular dementia. A logistic regression model was applied to identify dementia-specific morbid conditions. RESULTS: A total of 3355 patients with dementia were included, with a majority of 1503 (44.8%) having Alzheimer's disease, 395 (11.8%) with vascular dementia, and 441 (13.1%) with mixed dementia. The mean number of comorbidities was 3.8 in dementia patients (vs. 2.9 in controls). The most prevalent comorbidities in inpatients with dementia compared with those without dementia were cerebral vascular disease (73.0% vs. 35.9%), hypertension (62.8% vs. 56.2%), and peripheral vascular disease (53.7% vs. 31.2%). Comorbidities associated with dementia included epilepsy (OR 4.8, 95% CI 3.5-6.8), cerebral vascular disease (OR 4.1, 95% CI 3.7-4.5), depression (OR 4.0, 95% CI 3.2-5.0), uncomplicated diabetes (OR 1.5, 95% CI 1.4-1.7), peripheral vascular disease (OR 1.8, 95% CI 1.6-2.0), rheumatoid arthritis collagen vascular disease (OR 1.7, 95% CI 1.3-2.3), and anemia (OR 1.2, 95% CI 1.04-1.3). Some comorbidities suggested a protective effect against dementia. They were hypertension (OR 0.8, 95% CI 0.7-0.9), COPD (OR 0.6, 95% CI 0.5-0.6), and solid tumor without metastasis (OR 0.4, 95% CI 0.3-0.4). Vascular dementia has more cardiovascular and cerebrovascular comorbidities than Alzheimer's disease. CONCLUSION: Patients with dementia coexisted with more comorbidities than those without dementia. Comorbidities (esp. cardio-cerebral vascular risks) in patients with vascular dementia were more than those in patients with AD. Specifically, vascular and circulatory diseases, epilepsy, diabetes and depression increased the risk of dementia.

Flavor components, precursors, formation mechanisms, production and characterization methods: garlic, onion, and chili pepper flavors.

There is an enormous demand in the food industry to shift toward natural flavors. However, most flavor molecules are significantly unstable outside their original sources. Moreover, limited studies are focused on the flavor formation mechanisms, regeneration methods, and stability, which could help facilitate this replacement by establishing a link between food processing conditions and flavor generation.This scoping review summarizes major findings related to the identification of garlic, onion, and chili pepper flavors and their precursor molecules, formation mechanisms, generation of flavors and precursors, characterization methods, and precursor stability under thermal food processing conditions. The findings confirmed that the allium flavors could be generated by alliin and isoalliin precursors through thermal processing. Also, the literature lacks detailed knowledge about chili pepper flavor's precursors, and only capsaicinoids have been reported as a thermally stable chili pepper flavor.Although numerous studies have focused on this area, there is still a lack of detailed applicable knowledge. Future investigations can be framed into (1) Development of efficient methods to generate flavors during food processing; (2) Improvement of flavors' stability; (3) Understanding the interactions of flavors and their precursors with other food ingredients and additives; and (4) Characterization of the organoleptic properties of flavors.

Key Role Effect of Samarium in Realizing Zero Thermal Quenching and Achieving a Moisture-Resistant Reddish-Orange Emission in Ba3LaNb3O12:Sm3.

The strategy to enhance phosphor stability against thermal quenching and moisture conditions will contribute to controlling the feature of phosphor-converted white-light-emitting diodes (pc-WLEDs). Herein, an effective strategy is achieved with the incorporation of Sm3+ ions, and a robust reddish-orange emission (no thermal quenching up to 498 K) is obtained based on Ba3LaNb3O12 as a host. In light of excitation by near-ultraviolet irradiation at 408 nm, Ba3LaNb3O12:Sm3+ gives rise to a typical signal ascribed to the 4G5/2 → 6HJ/2 (J = 5, 7, 9, and 11) transitions of Sm3+ ions. The concentration quenching effect is observed when the Sm3+ content exceeds 10%, and the quenching mechanism is caused by electronic dipole-dipole interactions. Based on the narrow emission curves, a very high color purity (92.4%) could be recorded. The Sm3+ substitution at the Ba2+/La3+ site leads to a rigid structural lattice and abundant electron-trapping centers for the Sm3+ ions, which will be responsible for the zero-thermal-quenching phenomenon. In addition, oleic acid (OA) is selected to form a hydrophobic covering surface structure to protect Ba3LaNb3O12:Sm3+, which can assist in improving the moisture resistance. The most favorable parameters concerning the warm-light emission (a high general color rendering index, Ra, of 85.7 and a low correlated color temperature, CCT, of 4965 K) can be achieved in pc-WLEDs containing an OA-modified sample. Moreover, its luminous efficiency, LE, can maintain 82.9% of its initial value after 120 h under controlled environmental conditions of 85 °C and 85% humidity. These results pave a new way to optimize the sample as a potential candidate for red-emitting materials.

Recovery of Acid and Alkaline from Industrial Saline Wastewater by Bipolar Membrane Electrodialysis under High-Chemical Oxygen Demand Concentration.

Actual high saline wastewater containing concentrated organics and sodium chloride is a bioenergy and renewable resource. This study compared two different bipolar membrane electrodialysis membranes from two companies' stacks to recover HCl and NaOH from sodium chloride solution and actual chemical wastewater. The results demonstrated that the electrolysis rates were around 1.5 kg/m2h, the HCl and NaOH production rates were about 0.9 kg/m2h, energy consumption was in the range of 1.05-1.27 kWh/kg, and the economic benefits were above 1 yuan/h in BMED systems. From analyzing the performance of seven different BMED membrane stacks, the B2 stack was chosen for electrolyzing actual high salt wastewater to observe the effect of chemical oxygen demand on BMED systems, where electrolytic salt performance, HCl-NaOH alkali production rates, and energy consumption show linear dependence on time for 5000 mg/L chemical oxygen demand wastewater. It illustrated chemical oxygen demand can enhance energy consumption and reduce electrolytic salt performance and the acid and alkali production rates, due to improving the membrane area resistance. In this study, the effect of high COD saline wastewater on the performance of a BMED membrane stack was clarified and the mechanism was analyzed for its practical application in treating chemical high salt wastewater.

Extension of Spectral Shift Controls from Equivalent Substitution to an Energy Migration Model Based on Eu2+/Tb3+-Activated Ba4-xSrxGd3-xLuxNa3(PO4)6F2 Phosphors.

Single-phase phosphors with tunable emission colors are crucial to develop high-performance white light-emitting diodes since they are valuable to improve the energy efficiency, color rendering index, and correlated color temperature. Most of the studies have been conducted to control the spectral shifts via a polyhedral distortion or chemical unit cosubstitution strategy. The combination of host optimization and dopant activator design in a single-phase phosphor system is very rare. Herein, a partial substitution strategy of [Ba2+-Gd3+] by [Sr2+-Lu3+] has been employed in Ba4-xSrxGd3-x-yLuxNa3(PO4)6F2/5% Eu2+ (x = 0-0.40) phosphors. Also, the energy migration from Eu2+ to Tb3+ ions has been investigated in as-prepared samples. Consequently, the emitted signal is observed to shift from 470 to 575 nm derived from equivalent substitutions, which is attributed to specific performance by the emission profile of Eu2+, and such results are closely related to splitting of the crystal field and energy transfer among various luminescent centers. Moreover, the tunable yellowish-green emitting material has been assembled by incorporating ion pairs (Eu2+ → Tb3+) into the Ba3.85Sr0.15Gd2.85Lu0.15Na3(PO4)6F2, and their relative ratios are varied. The corresponding Eu2+ → Tb3+ energy migration process is assigned to be the dipole-quadrupole interaction by the Inokuti-Hirayama model. This work provides rational guidance for the design and discovery of new products with tunable emission colors, originating from the cosubstitution strategy and energy conversion model.

Realization of an Optical Thermometer via Structural Confinement and Energy Transfer.

The influence of temperature on a variety of physiological or chemical processes has generated considerable interest, and recently noninvasive lanthanide-incorporated optical thermometers have been considered as promising candidates for monitoring its changes at different scales. Herein, a novel Bi3+-activated Sr3-xGdxGaO4+xF1-x phosphor with tunable color has been constructed by a cooperative cation-anion substitution strategy with to the replacement of [Sr2+-F-] by [Gd3+-O2-]. When x = 0, the sample Sr3GaO4F/Bi3+ possesses a peak wavelength at 438 nm, and this value will shift to 470 nm if x is equal to 1 (Sr2GdGaO5/Bi3+). In addition, photoluminescence tuning from blue to red has been realized successfully by an efficient Bi3+ → Eu3+ energy migration model in Sr2.6Gd0.4GaO4.4F0.6 samples. The specific Bi3+ → Eu3+ energy transfer has been explained by dipole-dipole interactions derived from a model of the Dexter pathway. Intriguingly, the two dopants (a blue signal from Bi3+ and a red signal from Eu3+) possess different thermal responses to increasing temperature. Accordingly, the intensity ratio values are sensitive to the temperature changes. The energy level cross relaxation causes the quenching effect of Bi3+, and the multi-phonon de-excitation mode leads to the thermal quenching of Eu3+. At room temperature (298 K), the determined maximum relative sensitivity (Sr) is 1.27% K-1. Moreover, the absolute sensitivity (Sa) is 0.067 K-1 since the temperature is elevated to 523 K. The collected results are superior to most of the reported optical thermometry materials.

Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification.

Primary familial brain calcification is a monogenic disease characterized by bilateral calcifications in the basal ganglia and other brain regions, and commonly presents motor, psychiatric, and cognitive symptoms. Currently, four autosomal dominant (SLC20A2, PDGFRB, PDGFB, XPR1) and one autosomal recessive (MYORG) causative genes have been identified. Compared with patients with autosomal dominant primary familial brain calcification, patients with the recessive form of the disease present with more severe clinical and imaging phenotypes, and deserve more clinical and research attention. Biallelic mutations in MYORG cannot explain all autosomal recessive primary familial brain calcification cases, indicating the existence of novel autosomal recessive genes. Using homozygosity mapping and whole genome sequencing, we detected a homozygous frameshift mutation (c.140delT, p.L48*) in the JAM2 gene in a consanguineous family with two affected siblings diagnosed with primary familial brain calcification. Further genetic screening in a cohort of 398 probands detected a homozygous start codon mutation (c.1A>G, p.M1?) and compound heterozygous mutations [c.504G>C, p.W168C and c.(67+1_68-1)_(394+1_395-1), p.Y23_V131delinsL], respectively, in two unrelated families. The clinical phenotypes of the four patients included parkinsonism (3/4), dysarthria (3/4), seizures (1/4), and probable asymptomatic (1/4), with diverse onset ages. All patients presented with severe calcifications in the cortex in addition to extensive calcifications in multiple brain areas (lenticular nuclei, caudate nuclei, thalamus, cerebellar hemispheres, ± brainstem; total calcification scores: 43-77). JAM2 encodes junctional adhesion molecule 2, which is highly expressed in neurovascular unit-related cell types (endothelial cells and astrocytes) and is predominantly localized on the plasma membrane. It may be important in cell-cell adhesion and maintaining homeostasis in the CNS. In Chinese hamster ovary cells, truncated His-tagged JAM2 proteins were detected by western blot following transfection of p.Y23_V131delinsL mutant plasmid, while no protein was detected following transfection of p.L48* or p.1M? mutant plasmids. In immunofluorescence experiments, the p.W168C mutant JAM2 protein failed to translocate to the plasma membrane. We speculated that mutant JAM2 protein resulted in impaired cell-cell adhesion functions and reduced integrity of the neurovascular unit. This is similar to the mechanisms of other causative genes for primary familial brain calcification or brain calcification syndromes (e.g. PDGFRB, PDGFB, MYORG, JAM3, and OCLN), all of which are highly expressed and functionally important in the neurovascular unit. Our study identifies a novel causative gene for primary familial brain calcification, whose vital function and high expression in the neurovascular unit further supports impairment of the neurovascular unit as the root of primary familial brain calcification pathogenesis.

Application of DynaCT angiographic reconstruction in balloon pulmonary angioplasty.

OBJECTIVES: To investigate the feasibility and accuracy of balloon pulmonary angioplasty (BPA) using DynaCT angiographic reconstruction guidance. METHODS: Thirty-four BPAs (23 CTEPH patients) targeting 175 pulmonary arteries were included. Eleven BPAs (2D group) were guided by DSA two-dimensional angiography. Another twenty-three BPAs (3D group) were guided using DynaCT angiographic reconstruction. The volume rendering (VR) method was used to obtain a three-dimensional image of the blood vessels. This image was used as a reference to continue BPA treatment under the guidance of vascular three-dimensional reconstruction technology. Procedure durations and radiation exposure data were compared between the two groups using Mann-Whitney U test. RESULTS: Using the DynaCT angiographic reconstruction technique, more target vessels were treated in a single BPA procedure (5.83 ± 2.33 vs 3.73 ± 1.10 vessels per BPA, p = 0.008) in a shorter operation time (3.58 ± 0.61 vs 4.49 ± 0.91 h, p = 0.002). Overall, the dose area product (DAP) was significantly higher for the 2D group than for the 3D group (13,901.82 ± 5549.69 vs 4682.82 ± 1950.64, p < 0.001). The use of the DynaCT angiographic reconstruction technique to guide BPA required a lower dose of contrast agent (225.22 ± 48.70 vs 292.73 ± 76.82 mL, p = 0.013) and less radiation exposure. CONCLUSIONS: The use of DynaCT angiographic reconstruction guidance in patients undergoing BPA is feasible and accurate. Images of DynaCT angiographic reconstruction may be beneficial for optimizing the operative process in BPA with reduced radiation exposure. KEY POINTS: • BPA guidance by DynaCT angiographic reconstruction is feasible and accurate. • DynaCT angiographic reconstruction may be beneficial for optimizing the operative process. • DynaCT angiographic reconstruction can reduce patient radiation dose due to multi-times of BPA sessions.

Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations.

Treacher Collins syndrome (TCS) (OMIM 154500) is a rare congenital craniofacial disorder with an autosomal dominant manner of inheritance in most cases. To date, three pathogenic genes (TCOF1, POLR1D and POLR1C) have been identified. In this study, we conducted mutational analysis on Chinese TCS patients to reveal a mutational spectrum of known causative genes and show phenotype-genotype data to provide more information for gene counselling and future studies on the pathogenesis of TCS. Twenty-two TCS patients were recruited from two tertiary referral centres, and Sanger sequencing for the coding exons and exon-intron boundaries of TCOF1, POLR1D and POLR1C was performed. For patients without small variants, further copy number variations (CNVs) analysis was conducted using high-density SNP array platforms. The Sanger sequencing overall mutation detection rate was as high as 86.3% (19/22) for our cohort. Fifteen TCOF1 pathogenic variants, including ten novel mutations, were identified in nineteen patients. No causative mutations in POLR1D and POLR1C genes and no CNVs mutations were detected. A suspected autosomal dominant inheritance case that implies germinal mosaicism was described. Our study confirmed that TCOF1 was the main disease-causing gene for the Chinese TCS population and revealed its mutation spectrum. We also addressed the need for more studies of mosaicism in TCS cases, which could explain the mechanism of autosomal dominant inheritance in TCS cases and benefit the prevention of TCS.

Differentiation of neuropsychological features between posterior cortical atrophy and early onset Alzheimer's disease.

BACKGROUND: Posterior cortical atrophy (PCA) is a group of clinical syndromes characterized by visuospatial and visuoperceptual impairment, with memory relatively preserved. Although PCA is pathologically almost identical to Alzheimer's disease (AD), they have different cognitive features. Those differences have only rarely been reported in any Chinese population. The purpose of the study is to establish neuropsychological tests that distinguish the clinical features of PCA from early onset AD (EOAD). METHODS: Twenty-one PCA patients, 20 EOAD patients, and 20 healthy controls participated in this study. Patients had disease duration of ≤4 years. All participants completed a series of neuropsychological tests to evaluate their visuospatial, visuoperceptual, visuo-constructive, language, executive function, memory, calculation, writing, and reading abilities. The cognitive features of PCA and EOAD were compared. RESULTS: All the neuropsychological test scores showed that both the PCA and EOAD patients were significantly more impaired than people in the control group. However, PCA patients were significantly more impaired than EOAD patients in visuospatial, visuoperceptual, and visuo-constructive function, as well as in handwriting, and reading Chinese characters. CONCLUSIONS: The profile of neuropsychological test results highlights cognitive features that differ between PCA and EOAD. One surprising result is that the two syndromes could be distinguished by patients' ability to read and write Chinese characters. Tests based on these characteristics could therefore form a brief PCA neuropsychological examination that would improve the diagnosis of PCA.

Contralateral Suppression of DPOAEs in Mice after Ouabain Treatment.

Medial olivocochlear (MOC) efferent feedback is suggested to protect the ear from acoustic injury and to increase its ability to discriminate sounds against a noisy background. We investigated whether type II spiral ganglion neurons participate in the contralateral suppression of the MOC reflex. The application of ouabain to the round window of the mouse cochlea selectively induced the apoptosis of the type I spiral ganglion neurons, left the peripherin-immunopositive type II spiral ganglion neurons intact, and did not affect outer hairs, as evidenced by the maintenance of the distorted product otoacoustic emissions (DPOAEs). With the ouabain treatment, the threshold of the auditory brainstem response increased significantly and the amplitude of wave I decreased significantly in the ouabain-treated ears, consistent with the loss of type I neurons. Contralateral suppression was measured as reduction in the amplitude of the 2f1-f2 DPOAEs when noise was presented to the opposite ear. Despite the loss of all the type I spiral ganglion neurons, virtually, the amplitude of the contralateral suppression was not significantly different from the control when the suppressor noise was delivered to the treated cochlea. These results are consistent with the type II spiral ganglion neurons providing the sensory input driving contralateral suppression of the MOC reflex.