ObjectiveTo disuss the relationship of clinical symptoms of cerebral palsy and the morphologie changes of head CT. MethodsHead CT photos of 86 cases of cerebral palsy infants were inspected and analyzed.ResultsAmong 86 cases of cerebral palsy infants 66 cases were abnormal in CT scan, the abnormal rate was 76.7%, in which cerebral atrophy constituted the most part (59.1%) of abnormity. The younger the sufferers were, the higher the abnormal rate reached. Sufferers with suffocation in disease history had the highest CT abnormity rate. In clinical types, sufferers of spasticity had the highest CT abnormity rate. Conclusion Morphologic examination of head CT is vital to diagnose the cause of cerebral palsy, and helps to find pathologic changes early.

The mutation of lysosomal trafficking regulator (LYST) gene and the clinical data of an adult patient who showed an abnormal gait with Chediak-Higashi syndrome were analyzed retrospectively. The whole exon sequencing was applied, and Sanger sequencing was used to verify the results. All members of the family were genetically verified for the same mutation site. The sequencing revealed the presence of c.421C>T(p.Arg141 *) mutation in LYST gene in the proband, which was inherited from his parents. The mutation was found in the homozygous state for the proband, both his parents being heterozygous for the same mutation. This mutation type was not reported in the human gene mutation database. According to the American Society of Medical Genetics and Genomic Society′s guide to the interpretation of genetic variation, the mutation of c.421C>T was identified to be pathogenic.

Objective To explore facial characteristics of patients with different organ diseases; To provide some references for objective study on TCM inspection information. Methods Smart TCM-I type Life Information Analysis Systems was used to detect facial characteristics of 510 patients with five zang-organs diseases. 36 specific quantitative parameters including red ?, green (G), blue (B) and hue (H), saturation (S), value (V) of the face, forehead, eyes, cheeks, nose and chin were collected, and the Kruskal M-Wallis H and Nemenyi test were used for statistical analysis. Results Among the 510 patients with five zang-organs diseases, 96 patients belonged to lung system diseases, 105 heart system diseases, 101 liver system diseases, 107 spleen and stomach system diseases and 101 kidney system diseases. There was statistical significance in R, G, B, H, S, and V in forehead, eyes, cheeks and nose. Conclusion Facial characteristics can provide objective references for the facial division of five zang-organs diseases.

Objective To evaluate the effect of dexmedetomidine on the quality of intraoperative wake-up test in the patients undergoing balloon occlusion test of the internal carotid artery.Methods Forty-two patients of either sex with intracranial aneurysm,aged 57-78 yr,weighing 53-86 kg,of American Society of Anesthesiologists physical status Ⅱ or Ⅲ,scheduled for elective balloon occlusion test of the internal carotid artery under general anesthesia,were assigned into 2 groups (n =21 each) using a random number table:propofol conbined with remifentanil group (group PR) and dexmedetomidine combined with propofol and remifentanil group (group DPR).In group DPR,dexmedetomidine was intravenously infused over 15 min in a loading dose of 0.5 μg · kg-1 before induction of anesthesia,followed by an infusion of 0.3 μg · kg-1 · h-1 throughout surgery.Propofol and remifentanil were given by target-controlled infusion (TCI) after infusion of the loading dose.The patients were mechanically ventilated after placement of the laryngeal mask airway.Maintenance of anesthesia was as follows:propofol and remifentanil were given by TCI with the target plasma concentrations of 0.5-1.0 μg/ml and 1-3 ng/ml,respectively,in group DPR;propofol and remifentanil were given by TCI with the target plasma concentrations of 3-5 μg/ml and 3-6 ng/ml,respectively,in group PR.Bispectral index (BIS) value was maintained at 40-60.Before wakeup test,propofol infusion was stopped and the target plasma concentration of remifentanil was decreased to 0.5 ng/ml in two groups,and the infusion rate of dexmedetomidine was decreased to 0.1 pg · kg-1 · h-1 in group DPR.The wake-up time was recorded and the wake-up quality was assessed.After admission to the operating room (T0,baseline),at 10 min before wake-up test (T1),immediately after patients were wakened (T2),at 10 min after patients were wakened (T3) and at the end of wake-up test (T4),the mean blood pressure (MAP),heart rate,respiratory rate (RR),SpO2 and BIS values were recorded.The development of intraoperative awareness,emergence time,postoperative agitation,nausea and vomiting,regurgitation and aspiration and severe pain was recorded.Results MAP,heart rate,SpO2 and RR were all within the normal range during wake-up period in two groups.Compared with the baseline at To,MAP was significantly decreased at Ti,3,4 in group PR,and BIS value was decreased at T1-4 in DPR and PR groups (P＜0.05).Compared with group PR,MAP was significantly increased at T1.3,BIS value was decreased at T24,the wake-up time was shortened,Ramsay sedation score and wake-up quality were increased,the emergence time was shortened,and the incidence of agitation was deceased (P＜0.05),and no significant change was found in verbal rating scale scores assessed after extubation in group DPR (P ＞ 0.05).No cardiovascular events,respiratory depression,intraoperative awareness,postoperative nausea and voniting,regurgitation and aspiration or severe pain was found in two groups.Conclusion Dexmedetomidine can raise the quality of intraoperative wake-up test in the patients undergoing balloon occlusion test of the internal carotid artery.

Objective To evaluate the immunoprotection by the inactivated whole bacteria(IWB) of Stenotrophomonas maltophilia K279a in mice.Methods Mice were immunized by inactivated whole bacteria of S.maltophilia K279a made from formaldehyde.When the indicated the antibody titer of the mice reached the require level, the protective effect of the IWB was evaluated by performing the opsonophagocytic killing test in vitro and the poison attack experiments in vivo. Results It was found that IgG in serum of the immunized mice measured by ELISA was significantly increased after the second immune enhancement, and antiserum in vitro had strong phagocytic effect.Meanwhile, immunoprotection of the immunized groups was also significantly increased when challenged by S.maltophilia K279a.Conclusion Effective humoral immune response can be predominantly induced by the inactivated whole bacteria of S.maltophilia K279a, providing protection against challenge by S.maltophilia K279a in BALB/c mice.

OBJECTIVE: To explore the genetic basis for a patient with intellectual disability. METHODS: Whole exome sequencing and Sanger sequencing were carried out for the patient. The result was verified in her family. RESULTS: DNA sequencing revealed that the patient has carried a heterozygous nonsense c.40C>T (p.Arg14X) variant of the TRIP12 gene, which was de novo in origin. The variant was unrecorded in the Human Gene Mutation Database. Based on the American College of Medical Genetics and Genomics standards and guidelines, the variant was predicted to be pathogenic (PVS1+ PS2+ PP3). CONCLUSION The patient was diagnosed with autosomal dominant intellectual disability due to heterozygous c.40C>T variant of the TRIP12 gene.
Carrier Proteins/genetics* ; Codon, Nonsense ; Female ; Heterozygote ; Humans ; Intellectual Disability/genetics* ; Ubiquitin-Protein Ligases/genetics* ; Whole Exome Sequencing

Objective:To investigate the vitamin D level of pulmonary tuberculosis patients in Qinghai Province, and to explore the correlation between vitamin D level and pulmonary tuberculosis.Methods:From May to September 2020, 208 bacterial confirmed pulmonary tuberculosis patients who were admitted to The 4th People′s Hospital of Qinghai Province were enrolled as the pulmonary tuberculosis group, and 129 healthy people who underwent physical examination during the same period were enrolled as the healthy control group. Independent sample t test and chi-square test were used for statistical analysis. Results:The deficiency rate of vitamin D was 11.06%(23/208) in the pulmonary tuberculosis group, which was higher than that (3.10%(4/129)) in the healthy control group, and the difference was statistically significant ( χ2=6.840, P=0.009). The vitamin D level was (56.84±20.03) μg/L in the pulmonary tuberculosis group, which was lower than that ((67.39±17.07) μg/L) in the healthy control group, and the difference was statistically significant ( t=5.154, P<0.01). The vitamin D levels were not different between the newly treated ((56.66±20.02) μg/L)) and retreated pulmonary tuberculosis patients ((59.11±20.81) μg/L) ( t=0.468, P=0.650). The vitamin D level of simple pulmonary tuberculosis patients ((57.82±20.01) μg/L) was higher than that of pulmonary tuberculosis patients combined with other diseases ((48.08±18.46) μg/L), and the difference was statistically significant ( t=2.132, P=0.034). Conclusion:Pulmonary tuberculosis is associated with decreased vitamin D levels, and patients with pulmonary tuberculosis are more likely to suffer from decreased or deficient vitamin D, which suggests clinicians considering the vitamin D status when treating pulmonary tuberculosis patients.

The 29th International Symposium on Amyotrophic Lateral Sclerosis (ALS)?Motor Neuron Disease was held in Glasgow from December 7 to 9, 2018. The symposium was divided into 23 topics, with 109 special reports and paper′s exchange and 515 posters exchange. This article briefly introduces some topics of the symposium, involving basic researches, clinical researches and clinical trials. Among these, basic researches include genetics and genomics, axonal degeneration, disease models, and preclinical therapeutic strategies; Clinical researches include epidemiology, clinical progression, cognitive and psychological change, neuropathology, neurophysiology, neuroimaging and biomarkers.

Hepatic fibrosis (HF) is a key stage in the progression of chronic hepatitis to liver cirrhosis and even liver cancer, and it is a dynamic and reversible pathological change. Studies have shown that integrated traditional Chinese and Western medicine therapy has a good therapeutic effect on HF and can delay or reverse the progression of this disease. This article summarizes the pathogenesis of HF and discusses the diagnosis of HF, traditional Chinese medicine and Western medicine therapies, and the path of integrated traditional Chinese and Western medicine therapy, so as to provide ideas for the basic research and clinical application of integrated traditional Chinese and western medicine in the prevention and treatment of HF.