The clinical and imaging features of cerebrotendinous xanthomatosis: A case report and review of the literature.

RATIONALE: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid deposition disorder characterized by systemic signs and neurological dysfunction. The radiological features of CTX are infrequently summarized in the literature. PATIENT CONCERNS: We described a 40-year-old male patient who repeatedly engaged in wrestling matches and presented with progressive difficulty in walking and reduced balance with egg-sized, hard, smooth, and painless masses in both ankles. DIAGNOSIS: Neuroimaging examination showed abnormalities both supra- and infratentorially. Bilateral ankle joint magnetic resonance imaging showed bilateral xanthomata of the Achilles tendon. The diagnosis was confirmed by the detection of a sterol 27-hydroxylase gene mutation. INTERVENTIONS: The patient was treated with chenodeoxycholic acid (250 mg 3 times per day). OUTCOMES: To date, the patient's bilateral xanthomas of the Achilles tendon have begun to diminish, and his neurological impairment has not deteriorated further but has not yet improved. LESSONS: We report a rare case of CTX and summarize the clinical and imaging features of this disease. Our findings suggest that the abnormal signals in the dentate nucleus or a long spinal cord lesion involving the central and posterior cord, combined with tendon xanthoma, are important clues for the diagnosis of CTX.

Preferentially Disrupted Core Hubs Within the Default-Mode Network in Patients With End-Stage Renal Disease: A Resting-State Functional Magnetic Resonance Imaging Study.

Neuroimaging evidence implies that cognitive impairment in patients with end-stage renal disease (ESRD) is related to the disruption of the default-mode network (DMN). The DMN can be divided into three functionally independent subsystems, which include the cortical hub subsystem [consisting of the posterior cingulate cortex (PCC) and the anterior medial prefrontal cortex (aMPFC)], the dorsal medial prefrontal cortex (dMPFC) subsystem, and the medial temporal lobe (MTL) subsystem. However, it is unknown how the functional connectivity (FC) in DMN subsystems is differentially impaired in ESRD. This prospective study was carried out at the Affiliated Hospital of Qingdao University, China, between August 2018 and July 2020. Thirty-two ESRD patients and forty-five healthy controls (HCs) were recruited for this study and received resting-state functional magnetic resonance imaging (rs-fMRI) scanning, and FCs on predefined regions of interest (ROIs) were individually calculated in three DMN subsystems using both ROI- and seed-based FC analyses to examine FC alterations within and between DMN subsystems. The two-sample t-test was used for the comparisons between groups. We also tested the associations between FC changes and clinical information using Pearson's correlation analysis. The results demonstrated that ESRD patients, compared with HCs, exhibit reduced FC specifically within the cortical hubs and between the DMN hubs and two subsystems (the dMPFC and MTL subsystems). Moreover, the FC values between the aMPFC and PCC were positively correlated with creatinine and urea levels in the ESRD patients. Our results suggest that the cortical hubs (PCC and aMPFC) are preferentially disrupted and that other subsystems may be progressively damaged to a certain degree as the disease develops.

Multimodal MR Features of 8 Cases of Epithelioid Glioblastoma.

PURPOSE: The MRI features of epithelioid glioblastoma (eGBM) were analyzed. The apparent diffusion coefficient (ADC), MR perfusion-weighted imaging (PWI), and magnetic resonance spectroscopy (MRS) findings were quantitatively analyzed. METHODS: The MRI images of 8 cases of eGBM were analyzed retrospectively. The location and edge, signal, peritumoral edema, adjacent meningeal invasion, and enhancement of the lesions were observed. The ADC value, relative cerebral blood volume (rCBV), relative cerebral blood flow (rCBF), and N-acetylaspartate/acetylcholine (NAA/Cho) value were analyzed. RESULTS: Among the 8 patients, the tumors were mainly located in the temporal lobe (n = 3), frontal lobe (n = 3), and parietal lobe (n = 2). The lesion boundary was clear in 6 cases and unclear in 2. The lesions were superficial in 5 cases and in the deep white matter in 3. Internal hemorrhage was observed in 4 cases. There was cystic necrosis in 7 cases, and only 1 case was solid without cystic necrosis. There was no edema around the lesion in 1 case, severe edema in 5, and moderate edema in 2. In 4 cases, the adjacent meninges were involved, and in 1 case, the ependyma was involved. Two patients developed leptomeningeal metastasis within 2 months after the operation. The average ADC value of the tumor parenchyma among all 8 patients was7.15 × 10-4 mm2/s,which was 17.6% lower than that of the contralateral side. The Cho/NAA metabolite ratio was 5.27 and 0.81 in the lesions of 2 patients. The rCBV was 3.51 ml/100 g and 3.32 ml/100 g of lesions in 2 patients; these values were 36% and 29% higher, respectively, than those of the contralateral side. The rCBF was 31.5 ml/100 g/min and 82.1 ml/100 g/min of lesions in two patients; these values were 49% and 203% higher, respectively, than those of the contralateral side. CONCLUSION: eGBM characteristics include a superficial location, easy cyst degeneration, easy necrosis and hemorrhage, and clear boundaries. It easily invades adjacent meninges and shows cerebrospinal fluid dissemination and metastasis. Combining new MR techniques, such as ADC values, PWI, and MRS, could be helpful for improving diagnostic accuracy.

Effects of miR-144-3p on Proliferation, Cell Cycle and Apoptosis of K562 Cells / 中国实验血液学杂志

OBJECTIVE@#To investigate the effects of miR-144-3p on cell proliferation, cell cycle and apoptosis of blast phase chronic myelogenous leukemia (CML) K562 cells.@*METHODS@#K562 cells were cultured in vitro and mimics negative control, hsa-miR-144-3p mimics, inhibitor negative control and miR-144-3p inhibitor were respectively transfected into K562 cells with transfection reagents. The cells were divided into five groups including blank control, mimics negative control, miR-144-3p mimics, inhibitor negative control and miR-144-3p inhibitor. After transfection, the cell proliferation activity was detected by CCK-8 assay. The cell cycle distribution and apoptosis were detected by flow cytometry.@*RESULTS@#Compared with the blank control and mimics negative control groups, the proliferation rate of miR-144-3p mimics group was significantly decreased (P<0.05), the proportion of S phase cells was markedly increased (P<0.05), while the proportion of G1 phase cells was obviously decreased (P<0.05), and the apoptosis rate was significantly increased (P<0.05). Compared with the blank control and inhibitor negative control groups, the proliferation rate of miR-144-3p inhibitor group was obviously increased (P<0.05), the proportion of S phase cells was markedly decreased (P<0.05), while the proportion of G1 phase cells was obviously increased (P<0.05), and the apoptosis rate was significantly decreased (P<0.05).@*CONCLUSION@#miR-144-3p can inhibit the proliferation and promote apoptosis of K562 cells, affect the cell cycle, and block K562 cells in S phase, which indicates that miR-144-3p is involved in the cell cycle activity of CML during blastic phase.

Study on Herpes Zoster Reactivation Induced by Arsenic in Patients with Acute Promyelocytic Leukemia / 中国实验血液学杂志

OBJECTIVE@#To investigate herpes zoster reactivation induced by arsenic in patients with acute promyelocytic leukemia (APL).@*METHODS@#The clinical data of 212 patients with APL treated in the Department of Hematology of the First Affiliated Hospital of Xi'an Jiaotong University from 2008 to 2019 were retrospectively analyzed to observe the activation of varicella zoster virus induced by arsenic. Kaplan-Meier analysis, chi-square test, and boxplot were used to analyze and describe the cumulative dose of arsenic and the time from the beginning of arsenic treatment to the occurrence of herpes zoster.@*RESULTS@#Excluding early death cases and early automatic discharge cases, 17 cases developed herpes zoster reactivation in 175 patients with APL treated with arsenic, and the cumulative median dose of arsenic was 6.2(2-12) mg/kg. Precise risk of reactivation of herpes zoster with 10 months in APL patients treated by arsenic was 9.7%.@*CONCLUSION@#Arsenic treatment can induce high reactivation rate of herpes zoster virus.

Sperm nuclear basic proteins of two closely related species of Scorpaeniform fish (Sebastes maliger, Sebastolobus sp.) with different sexual reproduction and the evolution of fish protamines.

In this paper, we present a review of sperm nuclear basic proteins (SNBPs) in teleost fish. The distribution of the three basic groups of SNBPs [histone (H)-type, protamine-like (PL)-type and protamine (P)-type], their evolution and possible relation to the mode of fertilization are described. In this regard, we have characterized the SNBPs from two closely related species of Scorpaeniform fish: internally fertilizing Sebastes maliger and externally fertilizing Sebastolobus sp., both in the family Scorpaenidae. Despite the different reproductive behavior of these two closely related rockfish species, in both instances the SNBP consists of protamines. However, there is a significant increase in the arginine content of the protamine in the internally fertilizing rockfish. The relevance of this observation is discussed within the context of the P-type SNBP in teleosts. The rapid evolution of teleost protamines, including those in rockfish, has also allowed us to obtain a molecular phylogeny for this group of bony fish that is almost indistinguishable from that currently available from the use of conventional anatomical/paleontological markers.

Protamines in the internally fertilizing neobatrachian frog Eleutherodactylus coqui.

The internally fertilizing primitive frog Ascaphus truei (family Ascaphidae) from the Pacific Northwest is the only frog with an intromittent organ. The more advanced neobatrachian frog Eleutherodactylus coqui (family Leptodactylidae) from Puerto Rico has secondarily acquired internal fertilization but mates by cloacal apposition. Nonetheless, both frogs have introsperm with an elongated head containing highly condensed chromatin. Characterization of sperm nuclear basic proteins (SNBPs) in E. coqui by acid-urea polyacrylamide gel electrophoresis indicates that, as in A. truei, testes from a single animal contain several protamines. Amino acid analysis indicates a composition for the most rapidly moving protamine of each species as follows: in E. coqui, ARG (35.6 mol %) + LYS (3.8 mol %) + HIS (7.6 mol %) = 47 mol % total basic residues and in A. truei, ARG (42.1 mol %) + LYS (11.1 mol %) = 53.2 mol % total basic residues. Transmission electron microscopy shows that E. coqui introsperm, like those in A. truei, are elongate with highly condensed chromatin. However, E. coqui introsperm lacks an axial perforatorium that extends into an endonuclear canal. These morphological features are plesiomorphic (primitive) and shared by A. truei with urodeles and basal amniotes (Jamieson et al. (1993) Herpetologica 49:52-65). In E. coqui introsperm, the nucleoprotein complex has a cross-sectional axis of 420 + 20 angstroms and shows a knobby chromatin structural organization in TEM. The presence of arginine-enriched protamines in both a basal anuran like the ascaphid A. truei and a more advanced neobatrachian like the leptodactylid E. coqui supports the hypothesis that internal fertilization acts as a constraint on the range of SNBP diversity in animals.

A three dimensional finite element study on stress distribution in maxillary central incisor restored with fiber post / 华西口腔医学杂志

<p><b>OBJECTIVE</b>To study the stress changes of maxillary central incisor restored with or without fiber post using three dimensional finite element method, and analysis the role of fiber post in determining the stress distribution in dentin.</p><p><b>METHODS</b>Three dimensional finite element models of maxillary central incisor with various remaining tooth structure were established by spiral CT, Mimics software and ANSYS software. Test samples were restored with all-ceramic crown and fiber post all-ceramic crown, respectively. The von Mises stress and maximal tensile stress of dentin were recorded.</p><p><b>RESULTS</b>The stress level in dentin of maxillary central incisor restored with fiber post all-ceramic crown was smaller than that restored with all-ceramic crown, the stress distribution of both were similar.</p><p><b>CONCLUSION</b>The apply of fiber post can reduce the stress level in dentin of maxillary central incisor and decrease the risk of tooth breakage, but not change the stress pattern.</p>