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Objective: To investigate the genetic etiology, clinical diagnosis and treatment of a child with pancytopenia, failure to thrive and pulmonary infection., Methods: Peripheral blood samples of the child and her parents were collected. Genomic DNA was extracted. Genetic variants associated with hematological diseases were detected by high-throughput sequencing., Results: Three variants of TCN2 gene were found, one of which located in exon 5 upstream(c.581-8A>T), the parents has carried this variant; one in exon 6 (c.924_927del), the variant was originated from the mother; one in exon 7 (c.973C>T), the variant has ocurred de novo. The variants pathogenic analysis combined with clinical manifestation, pancytopenia, the increase in methylmalonic acid level and increased homocysteine, the child was diagnosed with transcobalaminIIdeficiency. The patient presented with respiratory infection, which was confirmed to be pneumocystosis by lung radioscopy and pathogenic high-throughput sequencing of broncho-alveolar lavage fluid. The patient presented with acute respiratory distress syndrome during the treatment with intramuscular injection of vitamin B 12 , and improved after anti-infection with compound sulfamethoxazole and symptomatic support treatment., Conclusion: We reported a case of Chinese child with TCNII deficiency due to novel gene variant, and analyzed the pathogenicity of the three variants. The treatment of TCNII deficiency with cobalamin should be individualized.

In this paper, a new method for the classification of Alzheimer's disease (AD) using multi-feature combination of structural magnetic resonance imaging is proposed. Firstly, hippocampal segmentation and cortical thickness and volume measurement were performed using FreeSurfer software. Then, histogram, gradient, length of gray level co-occurrence matrix and run-length matrix were used to extract the three-dimensional (3D) texture features of the hippocampus, and the parameters with significant differences between AD, MCI and NC groups were selected for correlation study with MMSE score. Finally, AD, MCI and NC are classified and identified by the extreme learning machine. The results show that texture features can provide better classification results than volume features on both left and right sides. The feature parameters with complementary texture, volume and cortical thickness had higher classification recognition rate, and the classification accuracy of the right side (100%) was higher than that of the left side (91.667%). The results showed that 3D texture analysis could reflect the pathological changes of hippocampal structures of AD and MCI patients, and combined with multi-feature analysis, it could better reflect the essential differences between AD and MCI cognitive impairment, which was more conducive to clinical differential diagnosis.

Hyperthermia is a significant and promising technique for tumor treatment. Temperature is the key parameter which influences the treatment effectiveness. Therefore, real-time and precise noninvasive temperature monitoring is the pivotal issue in further development of hyperthermia. This paper introduced the noninvasive monitoring theories and techniques of hyperthermia based on ultrasonic image texture features, and reviewed the achievements both abroad and at home. In addition, some problems to be solved necessary were also pointed out.

Voxel based morphometry (VBM) methods are used to detect the difference in brain structures between the posttraumatic stress disorder (PTSD) sufferers and the normal controls. Standard VBM method can detect the difference of the gray matter or white matter densities while the optimized VBM method can detect the difference of gray matter or white matter volumes in the whole brain. The experiments showed that for the patient group, gray matter density or volumes significantly increased in the right frontal lobe, middle frontal gyrus, vermis, left caudate and parietal lobe, compared with the normal controls. However, in the left frontal lobe and middle frontal gyrus, gray matter density significantly decreased. There is no significant difference in white matter between the two groups. These results are consistent with those of the fMRI, which not only provide the evidence for further study of the pathogeny in PTSD but also validate the efficiency of the VBM methods for detecting the difference in the whole brain structure.