Ultrasound Diagnosis of Bilateral Primary Breast Burkitt Lymphoma in a 28-Year-Old Lactating Patient: A Case Report.

Primary breast Burkitt lymphoma (PB-BL) is an exceedingly rare form of primary breast lymphoma. Ultrasonography is the preferred modality for diagnosing breast diseases; however, the ultrasonic features of Burkitt lymphoma have rarely been reported. Herein, we report a case of ultrasonically diagnosed bilateral PB-BL in a lactating patient and present a literature review. A 28-year-old female patient experienced bilateral breast engorgement starting more than a month after childbirth. At three months postpartum, the patient experienced extreme bilateral breast engorgement, with the skin appearing dark purple and jaundiced. Based on the imaging diagnosis, pathological, immunohistochemical, and molecular biological findings, she was diagnosed with Burkitt lymphoma involves bilateral breasts, right adrenal glands, uterus, and multiple bones. After 4 cycles of combination chemotherapy, the tumor basically disappeared, and then after autologous stem cell transplantation and one cycle of combination chemotherapy, the patient is generally in good condition and is under follow-up. We found that the ultrasonic characteristics of PB-BL are different from those of common breast cancer or lactation mastitis. PB-BL lesions are often multiple, large masses, and even involve the whole breast. The characteristic reticular structures are common in lesions, and irregular hyperechoic masses can be seen around it. The mass has abundant peripheral and internal blood flow signals, but internal calcification and attenuated posterior echoes of masses are rarely observed. Thus, the ultrasonic features of breast Burkitt lymphoma are somewhat specific and understanding these features is conducive to its early identification.

Supplemented Gegen Qinlian Decoction Formula attenuates podocyte mitochondrial fission and renal fibrosis in diabetic kidney disease by inhibiting TNF-α-mediated necroptosis, compared with empagliflozin.

ETHNOPHARMACOLOGICAL RELEVANCE: Recently, podocyte mitochondrial dysfunction and necroptosis have been shown to play critical roles in renal fibrosis (RF) in diabetic kidney disease (DKD); however, these conditions lack effective treatment. In China, the supplemented Gegen Qinlian Decoction Formula (SGQDF), which originates from the classical prescription Gegen Qinlian Decoction, has been widely used to treat patients with DKD. However, it remains unclear whether SGQDF alleviates podocyte injury-associated RF in patients with DKD. AIM OF STUDY: This study aimed to clarify the therapeutic effects of SGQDF compared with those of empagliflozin (EMPA) on podocyte mitochondrial fission and RF in DKD and its necroptosis-related mechanisms. MATERIALS AND METHODS: Modified DKD rat models were developed through a combination of uninephrectomy, streptozotocin administration through intraperitoneal injection, and exposure to a high-fat diet. Following RF formation, the DKD rat models received either a high dose of SGQDF (H-SGQDF), a low dose of SGQDF (L-SGQDF), EMPA, or vehicle for 4 weeks. In our in vitro study, we subjected cultured murine podocytes to a high-glucose environment and various treatments including Mdivi-1, adalimumab, and necrostatin-1, with or without H-SGQDF or EMPA. SGQDF target prediction and molecular docking verification were performed. For the in vivo study, we focused on examining changes in the parameters associated with renal injury, RF, and oxidative stress (OS)-induced injuries in podocytes. Both in vivo and in vitro studies included an analysis of changes in podocyte mitochondrial fission, TNF-α-induced podocyte necroptosis, and the RIPK1/RIPK3/MLKL signaling pathway activation. RESULTS: SGQDF improved renal injury markers, including body weight, blood glucose, serum creatinine, blood urea nitrogen, and urinary albumin, in a dose-dependent manner. The beneficial effects of H-SGQDF in vivo were greater than those of L-SGQDF alone in vivo. Interestingly, similar to EMPA, H-SGQDF ameliorated RF and reduced OS-induced podocyte injury in diabetic kidneys. Furthermore, TNF-α signaling was shown to be important in the network construction of "the SGQDF-component-target." Based on this, we also showed that the beneficial effects in vivo and in vitro of H-SGQDF were closely related to the improvement in mitochondrial dysfunction and the inhibition of TNF-α-induced necroptosis in podocytes. CONCLUSION: In the present study, we showed that H-SGQDF, similar to EMPA, attenuates podocyte mitochondrial fission and RF, and that the underlying therapeutic mechanisms are closely related to inhibiting the activation of the RIPK1/RIPK3/MLKL signaling axis in diabetic kidneys. Our findings provide new pharmacological evidence for the application of H-SGQDF in the RF treatment of DKD.

Transcription factor ELK1 regulates the expression of histone 3 lysine 9 to affect developmental potential of porcine preimplantation embryos.

A series of changes occur in the early embryo that are critical for subsequent development, and the pig is an excellent animal model of human disease, so understanding the regulatory mechanisms of early embryonic development in the pig is of very importance. To find key transcription factors regulating pig early embryonic development, we first profiled the transcriptome of pig early embryos, and confirmed that zygotic gene activation (ZGA) in porcine embryos starts from 4 cell stage. Subsequent enrichment analysis of up-regulated gene motifs during ZGA revealed that the transcription factor ELK1 ranked first. The expression pattern of ELK1 in porcine early embryos was analyzed by immunofluorescence staining and qPCR, and the results showed that the transcript level of ELK1 reached the highest at the 8 cell stage, while the protein level reached the highest at 4 cell stage. To further investigate the effect of ELK1 on early embryo development in pigs, we silenced ELK1 in zygotes and showed that ELK1 silencing significantly reduced cleavage rate, blastocyst rate as well as blastocyst quality. A significant decrease in the expression of the pluripotency gene Oct4 was also observed in blastocysts from the ELK1 silenced group by immunofluorescence staining. Silencing of ELK1 also resulted in decreased H3K9Ac modification and increased H3K9me3 modification at 4 cell stage. To investigate the effect of ELK1 on ZGA, we analyzed transcriptome changes in 4 cell embryos after ELK1 silencing by RNA seq, which revealed that ELK1 silencing resulted in significant differences in the expression of a total of 1953 genes at the 4 cell stage compared with their normal counterparts, including 1106 genes that were significantly upregulated and 847 genes that were significantly downregulated. Through GO and KEGG enrichment, we found that the functions and pathways of down-regulated genes were concentrated in protein synthesis, processing, cell cycle regulation, etc., while the functions of up-regulated genes were focused on aerobic respiration process. In conclusion, this study demonstrates that the transcription factor ELK1 plays an important role in regulation of preimplantation embryo development of pigs and deficiency of ELK1 leads to abnormal epigenetic reprogramming as well as zygotic genome activation, thus adversely affecting embryonic development. This study will provide important reference for the regulation of transcription factors in porcine embryo development.

Effects and central mechanism of electroacupuncture and MRI-navigated rTMS for PSD: study protocol for an fMRI-based single-center, randomized, controlled, open-label trial.

Background: Post-stroke depression (PSD) is the most common mental complication after stroke and has a serious impact on functional outcomes and quality of life for stroke patients. Antidepressants are the first-line treatment for PSD; however, many reported side effects remain. Clinical research and practice guidelines have shown that electro-acupuncture (EA) or rTMS have a positive effect on PSD. However, there are few clinical studies on EA and MRI-navigated rTMS for PSD that explore the fMRI-based central mechanism in depression. Methods: In this randomized, controlled, open-label trial, 64 patients with PSD will be randomly allocated into the experiment group (n = 32) or control group (n = 32). The experiment group will receive EA and MRI-navigated rTMS and the control group will receive MRI-navigated rTMS treatment, in 12-20 sessions over 4 weeks. In addition, 10 healthy people for fMRI scanning will be recruited as a healthy control group without any intervention. The primary outcome will be the change from baseline in the Hamilton Depression Scale-24 item (HAMD-24) scores at week 4. The primary analysis of the central mechanism will mainly involve cortical morphology, local spontaneous brain activity, and the default mode network (DMN) functional connectivity based on fMRI at 0 and 4 weeks. Secondary outcomes will include the neuro-patho-physiological and quality of life changes in cortical excitability, determined using the motor evoked potential test (MEP), National Institutes of Health Stroke Scale (NIHSS), EuroQol Five Dimensions Questionnaire (EQ-5D) Scale, Modified Barthel Index (MBI) Scale, and Health Scale of Traditional Chinese Medicine (HSTCM). Additional indicators will include the Acceptability Questionnaire and Health Economics Evaluation (cost-effectiveness analysis) to assess the acceptability and economic practicality of the treatment under study. Outcomes will be assessed at baseline and post intervention. Discussion: EA and MRI-navigated rTMS therapy could become an alternative treatment for PSD, and it is expected that this trial will provide reliable clinical evidence and a potential central mechanism for the future use of EA and MRI-navigated rTMS for PSD. Clinical trial registration: NCT05516680, ClinicalTrials.gov (registered in August 2022).

LncRNA affects epigenetic reprogramming of porcine embryo development by regulating global epigenetic modification and the downstream gene SIN3A.

The study of preimplantation development is of great significance to reproductive biology and regenerative medicine. With the development of high-throughput deep sequencing technology, it has been found that lncRNAs play a very important role in the regulation of embryonic development. In this study, key lncRNAs that regulate embryonic development were screened by analyzing the expression pattern of lncRNAs in porcine in vivo fertilization (IVV) embryos. By knocking down lncRNA expression in in vitro fertilization (IVF) embryos, we investigated its function and mechanism of regulating embryonic development. The results showed that the expression pattern of lncRNA was consistent with the time of gene activation. The lncRNAs were highly expressed in the 4-cell to blastocyst stage but barely expressed in the oocytes and 2-cell stage. So we speculated this part of lncRNAs may regulate gene expression. The lncRNA LOC102165808 (named lncT because the gene near this lncRNA is TFAP2C) was one of them. The knockdown (KD) of lncT inhibited embryonic development, resulting in decreased H3K4me3, H3K4me2, and H3K9me3, and increased DNA methylation. Meanwhile, RNAseq showed SIN3A was the top decreased gene in lncT-KD embryos. There was a severe blastocyst formation defect in SIN3A-KD embryos. Both lncT and SIN3A could affect NANOG and induce more cell apoptosis. In conclusion, the knockdown of lncT inhibits embryonic development by regulating H3K4me3, H3K4me2, DNA methylation, pluripotency gene, and apoptosis, and SIN3A is one of the downstream genes of lncT in regulating embryonic development.

ELF4 is critical to zygotic gene activation and epigenetic reprogramming during early embryonic development in pigs.

Zygotic gene activation (ZGA) and epigenetic reprogramming are critical in early embryonic development in mammals, and transcription factors are involved in regulating these events. However, the effects of ELF4 on porcine embryonic development remain unclear. In this study, the expression of ELF4 was detected in early porcine embryos and different tissues. By knocking down ELF4, the changes of H3K9me3 modification, DNA methylation and ZGA-related genes were analyzed. Our results showed that ELF4 was expressed at all stages of early porcine embryos fertilized in vitro (IVF), with the highest expression level at the 8-cell stage. The embryonic developmental competency and blastocyst quality decreased after ELF4 knockdown (20.70% control vs. 17.49% si-scramble vs. 2.40% si-ELF4; p < 0.001). Knockdown of ELF4 induced DNA damage at the 4-cell stage. Interfering with ELF4 resulted in abnormal increases in H3K9me3 and DNA methylation levels at the 4-cell stage and inhibited the expression of genes related to ZGA. These results suggest that ELF4 affects ZGA and embryonic development competency in porcine embryos by maintaining genome integrity and regulating dynamic changes of H3K9me3 and DNA methylation, and correctly activating ZGA-related genes to promote epigenetic reprogramming. These results provide a theoretical basis for further studies on the regulatory mechanisms of ELF4 in porcine embryos.

Application Value of a New Lung Ultrasound Scoring Method in Neonatal Respiratory Distress Syndrome Treatment.

The study was aimed at exploring the clinical value of a 14-zone lung ultrasound scoring (LUS) method in treating neonatal respiratory distress syndrome (NRDS) with pulmonary surfactant (PS) and determining the timing of mechanical ventilation (MV). In this study, 88 neonates with NRDS who received PS replacement therapy were selected. We applied a new 14-zone LUS method before and 12, 24, 48 and 72 h after PS treatment to explore the clinical value of assessing PS replacement therapy efficacy in NRDS. Additionally, 67 patients with NRDS under MV received LUS during extubation. The receiver operating characteristic curve was used to analyze the diagnostic efficacy of LUS in the timing of extubation. LUS score was inversely associated with PS treatment. At 12 h after PS, only the 14-zone LUS method was significantly different (t = 4.08, p < 0.05) as compared with before PS, which was consistent with the change on chest x-ray (CXR); the other LUS methods did not differ (p > 0.05). The 14-zone LUS method exhibited better diagnostic performance for withdrawal time. A score of 41.0 points was used as the diagnostic threshold to predict the risk of withdrawal failure, with an area under the curve of 0.955, sensitivity of 92.4% and specificity of 93.8%. The new 14-zone LUS method improved scoring in the early efficacy of PS and had good diagnostic efficiency for timing the removal of MV in NRDS.

Coronary artery-to-pulmonary artery fistula in adults: evaluation with 320-row detector computed tomography coronary angiography.

BACKGROUND: To analyze the imaging features of coronary artery-to-pulmonary artery fistula (CPAF) on coronary computed tomography angiography (CCTA). METHODS: This was a retrospective study of 3,975 patients who underwent 320 row detector CCTA examinations in our hospital from May 2015 to July 2020. A total of 22 patients who diagnosed with CPAF were reviewed for CCTA imaging characteristics, including the origin, number, blood volume, opening size, and course of fistula vessels, and the drainage site, size, and imaging features of the fistula. All cases were analyzed for the presence of coronary atherosclerotic plaque and that of deficient left ventricular myocardial perfusion. RESULTS: A total of 22 CPAF cases detected by CCTA were collected (men, 11; women, 11; median age, 59.6±10.1 years). There were 7, 10, and 5 cases detected with 1, 2, and 3 fistula vessels, respectively, among which 4 originated from the left coronary artery, 4 from the right coronary artery, and 14 had bilateral origins. There were 10 cases in which the fistula vessels presented as a worm-like tortuous dilation with (n=5) or without (n=5) aneurysm, while 12 cases showed malformed vascular networks with (n=8) or without (n=4) aneurysm, respectively. The calculated incidence of aneurysm formation was 59.09%, and fistula vessels with an aneurysm had larger blood volume than those without. All fistula showed a single drainage site, with an average diameter of 2.81±1.48 mm where the diameter of fistula with aneurysm was larger than that without. The fistula vessels drained into the left anterolateral and anterior walls of main pulmonary artery and the proximal left inferior PA, respectively. Typical jet sign, smoke sign, and isodensity sign were presented in 22, 14 and 1 case, respectively. For the coexistent abnormalities analyzed in 22 cases, 17 participants with CPAF demonstrated hypoperfusion of the fistula vessels, and 11 demonstrated calcified plaque accompanied with luminal stenosis to different degrees. CONCLUSIONS: The 320-row detector CCTA can comprehensively characterize the morphological features of CPAF, which is an optimal choice for physicians to make an accurate assessment before formulating patient management strategies.

The Genetic Etiology Diagnosis of Fetal Growth Restriction Using Single-Nucleotide Polymorphism-Based Chromosomal Microarray Analysis.

Background: An increase in pathogenic copy number variants (pCNVs) has been recognized to associate with fetal growth restriction (FGR). Here, we aim to explore the application value of chromosomal microarray analysis (CMA) in prenatal diagnosis of FGR. Methods: Prenatal ultrasound was applied to identify FGR. A total of 149 pregnant women with FGR were enrolled in our study. All subjects underwent karyotype analysis and CMA to reveal the chromosomal abnormalities. Results: In this study, all subjects were successfully detected by karyotype and CMA analyses. Of these subjects, the chromosomal abnormalities detection rate was 5.37% (8/149) for karyotyping and 13.42% (20/149) for CMA, respectively. Among them, an 8.05% (12/149) incremental yield of CMA over karyotype analysis was observed (p = 0.004). In addition, a significant difference of pCNV detection rate was observed between the groups with different high-risk factors (p = 0.005). The FGR with structural anomalies group showed the highest pCNV detection rate (33.33%), followed by the FGR with non-structural anomalies group (8.77%) and the isolated FGR group (8.06%). Conclusion: In conclusion, CMA technology showed an effective application value in etiology diagnosis of FGR. We believe that CMA should be recommended as first-line detection technology for prenatal diagnosis in FGR.

Decreased left amygdala functional connectivity by cognitive-coping therapy in obsessive-compulsive disorder.

It is of great clinical importance to explore more efficacious treatments for OCD. Recently, cognitive-coping therapy (CCT), mainly focusing on recognizing and coping with a fear of negative events, has been reported as an efficacious psychotherapy. However, the underlying neurophysiological mechanism remains unknown. This study of 79 OCD patients collected Yale-Brown Obsessive Compulsive Scale (Y-BOCS) and resting-state functional magnetic resonance imaging (rs-fMRI) scans before and after four weeks of CCT, pharmacotherapy plus CCT (pCCT), or pharmacotherapy. Amygdala seed-based functional connectivity (FC) analysis was performed. Compared post- to pretreatment, pCCT-treated patients showed decreased left amygdala (LA) FC with the right anterior cingulate gyrus (cluster 1) and with the left paracentral lobule/the parietal lobe (cluster 2), while CCT-treated patients showed decreased LA-FC with the left middle occipital gyrus/the left superior parietal/left inferior parietal (cluster 3). The z-values of LA-FC with the three clusters were significantly lower after pCCT or CCT than pretreatment in comparisons of covert vs. overt and of non-remission vs. remission patients, except the z-value of cluster 2 in covert OCD. CCT and pCCT significantly reduced the Y-BOCS score. The reduction in the Y-BOCS score was positively correlated with the z-value of cluster 1. Our findings demonstrate that both pCCT and CCT with large effect sizes lowered LA-FC, indicating that FCs were involved in OCD. Additionally, decreased LA-FC with the anterior cingulate cortex (ACC) or paracentral/parietal cortex may be a marker for pCCT response or a marker for distinguishing OCD subtypes. Decreased LA-FC with the parietal region may be a common pathway of pCCT and CCT. Trial registration: ChiCTR-IPC-15005969.

Effects of short-term cognitive-coping therapy on resting-state brain function in obsessive-compulsive disorder.

BACKGROUND: Obsessive-compulsive disorder (OCD) tends to be treatment refractory. Recently, cognitive-coping therapy (CCT) for OCD is reported to be an efficacious psychotherapy. However, the underlying neurophysiological mechanism remains unknown. Here, the effects of CCT on OCD and the resting-state brain function were investigated. METHODS: Fifty-nine OCD patients underwent CCT, pharmacotherapy plus CCT (pCCT), or pharmacotherapy. Before and after a 4-week treatment, Yale-Brown obsessive-compulsive scale (Y-BOCS) was evaluated and resting-state functional magnetic resonance imaging (rs-fMRI) was scanned. RESULTS: Compared with the baseline, significant reduction of Y-BOCS scores was found after four-week treatment (p < .001) in groups of CCT and pCCT, not in pharmacotherapy. Post-treatment Y-BOCS scores of CCT group and pCCT group were not different, but significantly lower than that of pharmacotherapy group (p < .001). Compared with pretreatment, two clusters of brain regions with significant change in amplitude of low-frequency fluctuation (ALFF) were obtained in those who treated with CCT and pCCT, but not in those who received pharmacotherapy. The ALFF in cluster 1 (insula, putamen, and postcentral gyrus in left cerebrum) was decreased, while the ALFF in cluster 2 (occipital medial gyrus, occipital inferior gyrus, and lingual gyrus in right hemisphere) was increased after treatment (corrected p < .05). The changes of ALFF were correlated with the reduction of Y-BOCS score and were greater in remission than in nonremission. The reduction of the fear of negative events was correlated to the changes of ALFF of clusters and the reduction of Y-BOCS score. CONCLUSIONS: The effectiveness of CCT for OCD was related to the alteration of resting-state brain function-the brain plasticity. TRIAL REGISTRATION: ChiCTR-IPC-15005969.

Evaluation of Low-Dose Multidetector Computed Tomography Whole Gastroenterography With Oral Administration of Contrast Agents.

PURPOSE: To evaluate the degree of gastric, enteric, colonic, and rectal filling in multidetector computed tomography (MDCT) whole gastroenterography. METHODS: In this prospective study involving 124 patients, 78 and 46 patients underwent MDCT whole gastroenterography using positive and neutral oral contrast agents, respectively. The degree of filling of the stomach, small and large bowel, was qualitatively analyzed by experienced radiologists using a 3-point scoring system. RESULTS: The majority of patients received a score of ≥2 for small intestine filling using both positive and neutral contrast agents (90.5% and 78.2%, respectively), and <9% of the patients had a score of 0. The highest score for the degree of filling in the small intestine was observed in the ileum, followed by the duodenum and jejunum. There was a significant difference in the degree of filling achieved with positive and neutral contrast agents in the duodenum (P = .013) and jejunum (P = .047). More than 74% of cases had an optimal filling of the stomach, whereas >80% of the cases had an optimal filling of the colorectal segments. Only ≤5.1% had a score of 0 for the analyzed segments of the colorectum. Positive and neutral contrast agents were associated with similar degree of filling in the stomach and colon segments without a significant difference in the extent of contrast agent filling (P > .05). CONCLUSIONS: Multidetector computed tomography whole gastroenterography was found to be a simple, safe, noninvasive, painless, and effective modality for the diagnosis of stomach and bowel complications in clinical settings.

Effects of the COVID-19 Pandemic on Obsessive-Compulsive Symptoms Among University Students: Prospective Cohort Survey Study.

BACKGROUND: The COVID-19 pandemic is associated with common mental health problems. However, evidence for the association between fear of COVID-19 and obsessive-compulsive disorder (OCD) is limited. OBJECTIVE: This study aimed to examine if fear of negative events affects Yale-Brown Obsessive-Compulsive Scale (Y-BOCS) scores in the context of a COVID-19-fear-invoking environment. METHODS: All participants were medical university students and voluntarily completed three surveys via smartphone or computer. Survey 1 was conducted on February 8, 2020, following a 2-week-long quarantine period without classes; survey 2 was conducted on March 25, 2020, when participants had been taking online courses for 2 weeks; and survey 3 was conducted on April 28, 2020, when no new cases had been reported for 2 weeks. The surveys comprised the Y-BOCS and the Zung Self-Rating Anxiety Scale (SAS); additional items included questions on demographics (age, gender, only child vs siblings, enrollment year, major), knowledge of COVID-19, and level of fear pertaining to COVID-19. RESULTS: In survey 1, 11.3% of participants (1519/13,478) scored ≥16 on the Y-BOCS (defined as possible OCD). In surveys 2 and 3, 3.6% (305/8162) and 3.5% (305/8511) of participants had scores indicative of possible OCD, respectively. The Y-BOCS score, anxiety level, quarantine level, and intensity of fear were significantly lower at surveys 2 and 3 than at survey 1 (P<.001 for all). Compared to those with a lower Y-BOCS score (<16), participants with possible OCD expressed greater intensity of fear and had higher SAS standard scores (P<.001). The regression linear analysis indicated that intensity of fear was positively correlated to the rate of possible OCD and the average total scores for the Y-BOCS in each survey (P<.001 for all). Multiple regressions showed that those with a higher intensity of fear, a higher anxiety level, of male gender, with sibling(s), and majoring in a nonmedicine discipline had a greater chance of having a higher Y-BOCS score in all surveys. These results were redemonstrated in the 5827 participants who completed both surveys 1 and 2 and in the 4006 participants who completed all three surveys. Furthermore, in matched participants, the Y-BOCS score was negatively correlated to changes in intensity of fear (r=0.74 for survey 2, P<.001; r=0.63 for survey 3, P=.006). CONCLUSIONS: Our findings indicate that fear of COVID-19 was associated with a greater Y-BOCS score, suggesting that an environment (COVID-19 pandemic) × psychology (fear and/or anxiety) interaction might be involved in OCD and that a fear of negative events might play a role in the etiology of OCD.

Lumbar plain radiograph is not reliable to identify lumbosacral transitional vertebra types according to Castellvi classification principle.

BACKGROUND: The anteroposterior view of the lumbar plain radiograph (AP-LPR) was chosen as the original and first radiographic tool to determine and classify lumbosacral transitional vertebra with morphological abnormality (MA-LSTV) according to the Castellvi classification. However, recent studies found that AP-LPR might not be sufficient to detect or classify MA-LSTV correctly. The present study aims to verify the reliability of AP-LPR on detecting and classifying MA-LSTV types, taking coronal reconstructed CT images (CT-CRIs) as the gold criteria. METHODS: Patients with suspected MA-LSTVs determined by AP-LPR were initially enrolled. Among them, those who received CT-CRIs were formally enrolled to verify the sensitivity of AP-LPR on detecting and classifying MA-LSTV types according to the Castellvi classification principle. RESULTS: A total of 298 cases were initially enrolled as suspected MA-LSTV, among which 91 cases who received CT-CRIs were enrolled into the final study group. All suspected MA-LSTVs were verified to be real MA-LSTVs by CT-CRIs. However, 35.2% of the suspected MA-LSTV types judged by AP-LPR were not consistent with the final types judged by CT-CRIs. Two suspected type IIIa and 20 suspected type IIIb MA-LSTVs were verified to be true, while 9 of 39 suspected type IIa, 9 and 3 of 17 suspected type IIb, and 11 of 13 suspected type IV MA-LSTVs were verified to truly be type IIIa, IIIb, IV and IIIb MA-LSTVs by CT-CRIs, respectively. Incomplete joint-like structure (JLS) or bony union structure (BUS) and remnants of sclerotic band (RSB) between the transverse process (TP) and sacrum were considered to be the main reasons for misclassification. CONCLUSION: Although AP-LPR could correctly detect MA-LSTV, it could not give accurate type classification. CT-CRIs could provide detailed information between the TP and sacrum area and could be taken as the gold standard to detect and classify MA-LSTV.

Sub-Exome Target Sequencing in a Family With Syndactyly Type IV Due to a Novel Partial Duplication of the LMBR1 Gene: First Case Report in Fujian Province of China.

Syndactyly is one of the most frequent hereditary limb malformations with clinical and genetical complexity. Autosomal dominant syndactyly type IV (SD4) is a rare form of syndactyly, caused by heterozygous mutations in a sonic hedgehog (SHH) regulatory element (ZRS) which resides in intron 5 of the LMBR1 gene on chromosome 7q36.3. SD4 is characterized by complete cutaneous syndactyly of the fingers, accompanied by cup-shaped hands due to flexion of the fingers and polydactyly. Here, for the first time, we reported a large Chinese family from Fujian province, manifesting cup-shaped hands consistent with SD4 and intrafamilial heterogeneity in clinical phenotype of tibial and fibulal shortening, triphalangeal thumb-polysyndactyly syndrome (TPTPS). We identified a novel duplication of ∼222 kb covering exons 2-17 of the LMBR1 gene in this family by sub-exome target sequencing. This case expands our new clinical understanding of SD4 phenotype and again confirms the feasibility to detect copy number variation by sub-exome target sequencing.

Clinical remission of a treatment-refractory individual with severe repetitive rituals and rumination.

BACKGROUND: Obsessive-compulsive disorder (OCD) is a severe chronic mental disorder and tends to be refractory to pharmacotherapy or psychotherapy. For treatment-refractory patients, neurosurgical interventions are options. 64 % of OCD patients who undergo neurosurgery still have greater than 16 in the Yale-Brown Obsessive-Compulsive Scale (Y-BOCS) after a long-term follow-up. Here, we reported a patient living with long-term OCD (20 years) who was refractory to pharmacotherapy, mindfulness-based psychotherapy, and neurosurgery that injured his bilateral anterior cingulates (AC) and caudate nucleus. METHODS: The patient accepted a novel psychotherapy named cognitive-coping therapy (CCT) and completed Y-BOCS, Hamilton depression rating scale, the Hamilton anxiety rating scale, social and occupational function assessment, and resting-state function magnetic resonance imaging scans (rs-fMRI) before and after 4-week CCT. RESULTS: His Y-BOCS score was reduced from 25 to 4. His depression score and anxiety score were reduced from 19 to 3 and from 12 to 3, respectively. The global assessment of functioning score increased from 32 to 88. CONCLUSIONS: The remission of the patient suggested that CCT could be an alternative intervention for treatment-refractory OCD and those with severe OCD could be cured in short-term.

CT-assessed sarcopenia is a predictive factor for both long-term and short-term outcomes in gastrointestinal oncology patients: a systematic review and meta-analysis.

BACKGROUND: The impact of sarcopenia on the outcome of gastrointestinal (GI) oncological patients is still controversial. We aim to discuss the prevalence of sarcopenia and its relation to the oncological outcome. METHODS: Embase, Medline, PubMed, and the Cochrane library were systematically searched for related keywords. Studies using CT to assess sarcopenia and evaluate its relationship with the outcome of GI oncological patients were included. Long-term outcomes, including overall survival and disease-free survival, were compared by hazard ratios (HRs) with 95% confidence intervals (CIs). Short-term outcomes, including total complications and major complications (Clavien-Dindo ≥IIIa) after curable surgery, were compared by the risk ratio (RR) and 95% CI. RESULTS: A total of 70 studies including 21,875 patients were included in our study. The median incidence of sarcopenia was 34.7% (range from 2.1 to 83.3%). A total of 88.4% of studies used skeletal muscle index (SMI) in the third lumbar level on CT to define sarcopenia, and a total of 19 cut-offs were used to define sarcopenia. An increasing trend was found in the prevalence of sarcopenia when the cut-off of SMI increased (ß = 0.22, 95% CI = 0.12-0.33, p < 0.001). The preoperative incidence of sarcopenia was associated both with an increased risk of overall mortality (HR = 1.602, 95% CI = 1.369-1.873, P < 0.001) and with disease-free mortality (HR = 1.461, 95% CI = 1.297-1.646, P < 0.001). Moreover, preoperative sarcopenia was a risk factor for both total complications (RR = 1.188, 95% CI = 1.083-1.303, P < 0.001) and major complications (RR = 1.228, 95% CI = 1.042-1.448, P = 0.014). CONCLUSION: The prevalence of sarcopenia depends mostly on the diagnostic cut-off points of different criteria. Preoperative sarcopenia is a risk factor for both long-term and short-term outcomes.

Utility of high b-value (2000 sec/mm2) DWI with RESOLVE in differentiating papillary thyroid carcinomas and papillary thyroid microcarcinomas from benign thyroid nodules.

PURPOSE: The aim of the study was to evaluate the role of high b-value (2000 sec/mm2) diffusion-weighted imaging (DWI) by using Readout Segmentation of Long Variable Echo-trains (RESOLVE) in differentiating papillary thyroid carcinomas (PTCs) and papillary thyroid microcarcinomas (PTMCs) from benign thyroid nodules. MATERIALS AND METHODS: Consecutive patients with thyroid nodules scheduled for surgery underwent high b-value DWI with 3 b-values: 0, 800 and 2000 sec/mm2. Signal intensity ratios (SIRs) of thyroid nodules to adjacent normal thyroid tissue on DWI were measured as: SIRb0, SIRb800 and SIRb2000. Apparent diffusion coefficient (ADC) values based on the 3 different b-values were acquired as: ADCb0-800, ADCb0-2000, and ADCb0-800-2000. The 6 diagnostic indicators were evaluated by receiver operating characteristic (ROC) and diagnostic ability was compared between high b-value DWI and Ultrasound (US). RESULTS: A total of 52 PTCs including 33 PTMCs (38 patients, 8 men and 30 women, aged 45.68 ± 11.93 years) and 62 benign thyroid nodules (46 patients, 7 men and 39 women, aged 48.73 ± 11.98 years) were enrolled into the final statistical analysis. ADCb0-800-2000 had the highest diagnostic ability in differentiating PTCs from benign thyroid nodules with area under curve (AUC) of 0.944, sensitivity of 96.15% and specificity of 85.48%, and PTMCs from benign thyroid nodules with AUC of 0.940, sensitivity of 93.94% and specificity of 85.48%. On the strength of lower false-positive rates than US (14.52% vs. 32.26% for PTCs and 14.52% vs. 32.26% for PTMCs), ADCb0-800-2000 had significantly better diagnostic ability in PTCs (P = 0.002) and PTMCs (P = 0.005). CONCLUSION: High b-value (2000 sec/mm2) DWI can contribute to differentiating PTCs and PTMCs from benign thyroid nodules and can be potentially used as an active surveillance imaging method for PTMCs.

CT two-dimensional reformation versus three-dimensional volume rendering with regard to surgical findings in the preoperative assessment of the ossicular chain in chronic suppurative otitis media.

PURPOSE: To assess the role of three-dimensional volume rendering (3DVR) in the preoperative assessment of the ossicular chain in chronic suppurative otitis media (CSOM). MATERIALS AND METHODS: Sixty-six patients with CSOM were included in this prospective study. Temporal bone was scanned with a 128-channel multidetector row CT and the axial data was transferred to the workstation for multiplanar reformation (MPR) and 3DVR reconstructions. Evaluation of the ossicular chain according to a three-point scoring system on two-dimensional reformation (2D) and 3DVR was performed independently by two radiologists. The evaluation results were compared with surgical findings. RESULTS: 2D showed over 89% accuracy in the assessment of segmental absence of the ossicular chain in CSOM, no matter how small the segmental size was. 3DVR was as accurate as 2D for the assessment of segmental absence. However, 3DVR was found to be more accurate than 2D in the evaluation of partial erosion of segments. CONCLUSION: Both 3DVR and 2D are accurate and reliable for the assessment of the ossicular chain in CSOM. The inclusion of 3DVR images in the imaging protocol improves the accuracy of 2D in detecting ossicular erosion from CSOM.

MR imaging of the spine at 3.0T with T2-weighted IDEAL fast recovery fast spin-echo technique.

OBJECTIVE: To compare the iterative decomposition of water and fat with echo asymmetry and the least-squares estimation (IDEAL) method with a fat-saturated T2-weighted (T2W) fast recovery fast spin-echo (FRFSE) imaging of the spine. MATERIALS AND METHODS: Images acquired at 3.0 Tesla (T) in 35 patients with different spine lesions using fat-saturated T2W FRFSE imaging were compared with T2W IDEAL FRFSE images. Signal-to-noise ratio (SNR)-efficiencies measurements were made in the vertebral bodies and spinal cord in the mid-sagittal plane or nearest to the mid-sagittal plane. Images were scored with the consensus of two experienced radiologists on a four-point grading scale for fat suppression and overall image quality. Statistical analysis of SNR-efficiency, fat suppression and image quality scores was performed with a paired Student's t test and Wilcoxon's signed rank test. RESULTS: Signal-to-noise ratio-efficiency for both vertebral body and spinal cord was higher with T2W IDEAL FRFSE imaging (p < 0.05) than with T2W FRFSE imaging. T2W IDEAL FRFSE demonstrated superior fat suppression (p < 0.01) and image quality (p < 0.01) compared to fat-saturated T2W FRFSE. CONCLUSION: As compared with fat-saturated T2W FRFSE, IDEAL can provide a higher image quality, higher SNR-efficiency, and consistent, robust and uniform fat suppression. T2W IDEAL FRFSE is a promising technique for MR imaging of the spine at 3.0T.