1.Diagnosis of Ebstein anomaly with conventional and transthoracic real-time three-dimensional echocardiography
Yong, JIANG ; Hao, WANG ; Minjie, LU ; Linyuan, WAN ; Wugang, WANG ; Minghui, ZHANG ; Weichun, WU ; Xin, SUN
Chinese Journal of Medical Ultrasound (Electronic Edition) 2015;(4):288-295
ObjectiveTo explore the value of conventional echocardiography and transthoracic real-time three-dimensional echocardiography (RT3DE) in diagnosis of Ebstein anomaly.MethodsWe investigated the morphology and function of right ventricle (RV) as well as the structure, morphology and regurgitation of tricuspid valve in 61 adult patients with Ebstein anomaly before surgery by using conventional echocardiography and transthoracic RT3DE. Twenty normal adults were enrolled as control group. ResultsThe surface of the tricuspid leaflets, the morphology of the tricuspid annulus as well as the three-dimensional structure of the tricuspid valve were displayed stereoscopically by RT3DE. Complete RV volume data could be acquired in 32 patients of Ebstein anomaly. The apex or part of RV could not be contained in the remaining 29 patients. Thirty-four (55.7%) patients with Ebstein anomaly had severe tricuspid regurgitation,
16 (26.2%) patients had moderate to severe regurgitation, and 11 (18.1%) patients had moderate regurgitation. Compared with the normal adults, patients of Ebstein anomaly showed higher RV end-diastolic volume (EDV), end-systolic volume (ESV), end-diastolic volume index (EDVI), end-systolic volume index (ESVI), stroke volume (SV), RV anterior-posterior diameter (RV), tricuspid valve annular transverse diameter (TV-R), and lower RV ejection fraction(EF) [(273.5±77.7) mlvs (74.3±15.9) ml, (187.1±96.8) mlvs (31.1±9.2) ml, (177.4±53.6) ml/m2vs (43.4±8.2) ml/m2, (121.7±65.5) ml/m2vs (18.4±5.1) ml/m2, (95.9±20.2) ml vs (43.6±8.8) ml, (48.1±13.3) ml/m2vs (19.0±1.9) ml/m2, (56.4±8.9) ml/m2vs (28.5±4.3) ml/m2, (38.3±12.8) %vs (59.3±5.1) %, allP<0.05). The tricuspid regurgitant orifice flow cross-sectional area (EROA) were correlated positively with RV anterior-posterior diameter (r=0.691), ratio of RV and LV anterior-posterior diameter (RV/LV) (r=0.6471).ConclusionTransthoracic RT3DE is a feasible method in addition to conventional two-dimensional echocardiography in evaluation of tricuspid valve mophology and function, as well as RV volume and EF in adult patients with Ebstein anomaly.
2.Research progress of brain imaging in patients with bipolar disorder with anxiety symptom
Yirou NIE ; Linyuan SUN ; Mingli LI
Sichuan Mental Health 2024;37(4):379-385
Bipolar disorder (BD) is a complex mental illness characterized by mood fluctuations, excitability and impaired functioning. Anxiety in BD patients frequently leads to increased clinical symptoms, worse social functioning, and a higher risk of suicide. Current research on BD with anxiety symptom primarily examined clinical characteristics, prevalence and treatment, with limited focus and inconsistent findings on its neuro-biogenetic mechanisms. The findings in this area were also inconsistent. Magnetic resonance imaging (MRI), known for its non-invasive nature and high resolution, is extensively utilized in investigating disease mechanisms. Consequently, this paper gave a comprehensive review on the progress in brain imaging on BD patients with anxiety symptom, seeking to discern stable changes in brain structure and function, thereby enrich our understanding of the neurobiological etiology of this condition and offer valuable insights for clinical diagnosis and treatment strategies making. This paper covered 14 original studies and synthesized their findings on brain structure and function. Conclusively, the changes of brain functional activities in BD patients with anxiety symptom mainly involve the prefrontal lobe, posterior cingulate cortex, temporal lobe and angular gyrus, while the changes of brain structure mainly involve the left hippocampus and middle frontal gyrus, but the consistency of the research results needs to be enhanced. The research in this field is not sufficient, and more homogeneous clinical samples and larger longitudinal studies are needed to verify and supplement the above results. [Funded by National Natural Science Foundation of China (number, 82071524)]
3.Atypical antipsychotic drugs with strong alpha 1 receptor antagonism resulting in self-perceived hot in patients with schizophrenia: a case report
Linyuan SUN ; Yang GAO ; Bin SU ; Mingli LI
Sichuan Mental Health 2024;37(3):267-269
This article reported a case of a patient with schizophrenia who experienced self-perceived fever and discomfort after taking atypical antipsychotic drugs with strong alpha 1 receptor antagonism, which included olanzapine, risperidone, paliperidone and clozapine. Such phenomenon was believed to be a medication side effect. Therefore, the patient switched to aripiprazole and the fever disappeared. This case report is intended to remind psychiatrists to pay attention to the side effects caused by atypical antipsychotic drugs with strong alpha 1 receptor antagonism as well as to suggest that various factors should be considered, including mechanisms of drug action, patient pathophysiology and individual differences, in order to improve treatment compliance and prognosis.
4.Analysis of GJB2, SLC26A4, GJB3 and 12S rRNA gene mutations among patients with nonsyndromic hearing loss from eastern Shandong.
Shiyu SUN ; Linyuan NIU ; Jinjun TIAN ; Wei CHEN ; Yanna LI ; Ningning XIA ; Caining JYU ; Xiaoli CHEN ; Chunxiao ZHANG ; Xinqiang LAN
Chinese Journal of Medical Genetics 2019;36(5):433-438
OBJECTIVE:
To explore the characteristics of mutations of four common pathogenic genes (GJB2, SLC26A4, GJB3 and 12S rRNA) among patients with nonsyndromic hearing loss (NSHL) from eastern Shandong.
METHODS:
Peripheral blood samples of 420 NSHL patients were collected, and a hereditary-deafness-gene microarray was used to detect GJB2 c.235delC, c.299-300delAT, c.35delG and c.176del16 mutations, GJB3 c.538C>T mutation, SLC26A4 c.2168A>G and c.IVS7-2A>G mutations, and 12S rRNA c.1555A>C and c.1494C>T mutations. For patients carrying single heterozygous mutations, the coding regions of the above genes were analyzed with Sanger sequencing.
RESULTS:
The results of the microarray assay and Sanger sequencing showed that 84 patients (20.00%) carried GJB2 mutations, with c.235delC (16.43%) and c.299-300delAT (7.86%) being most common. Seventy-five patients (17.86%) carried SLC26A4 mutations, for which c.IVS7-2A>G accounted for 15.71%. In addition, 5.95% of patients carried 12S rRNA mutations. Only one patient was found to carried GJB3 mutation (c.538C>T).
CONCLUSION
Common pathogenic mutations for NSHL in eastern Shandong included GJB2 c.235delC and SLC26A4 c.IVS7-2A>G. Of note, 5.95% of patients were due to 12S rRNA m.1555A>G mutation, which gave a frequency greater than other regions of China.
China
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Connexin 26
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Connexins
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DNA Mutational Analysis
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DNA, Mitochondrial
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Deafness
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Genes, rRNA
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Hearing Loss
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Humans
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Mutation
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RNA, Ribosomal
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Sulfate Transporters