Objective:To analyze the clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis (CTX) to increase the awareness of the disease among clinicians.Methods:The clinical data, including the age of onset and diagnosis, clinical manifestations, neuroimaging and neuroelectrophysiology and the genetic data of patients diagnosed with CTX in the Department of Neurology, Qilu Hospital of Shandong University from March 2017 to December 2023 were retrospectively collected and analyzed.Results:A total of 18 patients were enrolled in this study, including 12 males and 6 females.The onset age was 10 (6, 29) years, with a minimum onset age of 3 years and a maximum onset age of 32 years; the period from onset to diagnosis was 19.00 (8.75, 24.25) years, with the shortest being 6 months and the longest being 35 years. Among the 18 patients, 16 patients had symptoms and signs of spastic paralysis, 9 patients had cognitive impairment and peripheral neuropathy, 8 patients had cerebellar ataxia, 3 patients had mental disorders, 3 patients had autonomic nervous dysfunction, and only 2 patients had seizures. Among the non-neurological symptoms, 9 patients had Achilles tendon xanthoma, of whom 1 patient was accompanied by patellar tendon xanthoma; 8 patients had adolescent cataracts, 6 patients had chronic diarrhea since childhood. All patients underwent brain MRI examination, among whom 15 patients had cerebellar dentate nucleus involvement, 10 patients had corticospinal tract involvement and 2 patients had normal brain MRI. Fourteen patients underwent nerve conduction and electromyography examinations, among whom 9 patients presented with multiple peripheral neuropathy characterized by motor or motor sensory demyelination. A total of 17 CYP27A1 gene variants were detected in 18 patients. The c.1420C>T and c.1263+1G>A were the hot-spot mutations in this cohort. Conclusions:Spastic paralysis, cerebellar ataxia, tendon xanthoma and adolescent cataracts are typical manifestations of CTX. The cerebellar dentate nucleus and corticospinal tract are mainly involved on the neuroimaging. It should be noted that some patients lack the typical characteristics mentioned above. The c.1420C>T and c.1263+1G>A are the hot-spot mutations in this cohort.

Objective:To summarize and analyze the clinical data of Chinese patients with colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy, and clarify the phenotypic and genetic characteristics of Chinese patients.Methods:Medical history of patients with CSF1R-related leukoencephalopathy diagnosed from April 1, 2018 to January 31, 2021 in the department of neurology of 22 hospitals in China was collected, and scores of Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment Scale (MoCA), magnetic resonance severity scale were evaluated. Group comparison was performed between male and female patients.Results:A total of 62 patients were included, and the male-female ratio was 1∶1.95. The age of onset was (40.35±8.42) years. Cognitive impairment (82.3%, 51/62) and motor symptoms (77.4%,48/62) were the most common symptoms. The MMSE and MoCA scores were 18.79±7.16 and 13.96±7.23, respectively, and the scores of two scales in male patients (22.06±5.31 and 18.08±5.60) were significantly higher than those in females (15.53±7.41 , t=2.954, P=0.006; 10.15±6.26, t=3.328 , P=0.003). The most common radiographic feature was bilateral asymmetric white matter changes (100.0%), and the magnetic resonance imaging severity scale score was 27.42±11.40, while the white matter lesion score of females (22.94±8.39) was significantly higher than that of males (17.62±8.74 , t=-2.221, P<0.05). A total of 36 CSF1R gene mutations were found in this study, among which c.2381T>C/p.I794T was the hotspot mutation that carried by 17.9% (10/56) of the probands. Conclusions:The core phenotypic characteristics of CSF1R-related leukoencephalopathy in China are progressive motor and cognitive impairment, with bilateral asymmetrical white matter changes. In addition, there exist gender differences clinically, with severer cognitive impairment and imaging changes in female patients. Thirty-six CSF1R gene mutations were found in this study, and c.2381T>C/p. I794T was the hotspot mutation.

Objective To investigate the status of the humanistic caring ability in the secondary vocational nursing school students,and analyze its influencing factors to provide reference for humanistic education. Methods A total of 468 nursing students from 13 classes of 4 secondary vocational schools were selected as research subjects from March 2017 to May 2017 by random sampling method. All the research subjects were investigated by Caring Ability Inventory(CAI), Charles F. Kettering (CFK) School Climate Inventory, Peer Caring Measurement (PCM), Parent Bonding Instrument-Mother (PBI-M) and Parent Bonding Instrument-Father (PBI-F). Results The total score of secondary vocational nursing students' CAI was (175.47±18.77).The scores of humanistic care ability of nursing students were significantly correlated with school care climate score, mother caring score, class care atmosphere,degree of family harmony, feeling the love of other family members, frequency of contact with family and father caring score, according to Pearson correlation analysis (r=0.315,0.159,0.165,0.186,0.179,0.128,0.134;P<0.05). Conclusions In general, the humanistic caring ability of the secondary nursing school students is at low level. The school care environment score, class care atmosphere, degree of family harmony have great influence on the humanistic care ability of nursing students.

Objective To assess the value of apparent diffusion coefficient (ADC)map with low b-value to monitor the ablated tissue after high-intensity focused ultrasonic (HIFU)treatment for uterine fibroids.Methods 25 patients with 34 uterine fibroids were treated with HIFU.All patients underwent the routine MRI scans (including pre-and post-contrast scanning)and monoexponential model DWI with b values of 150,600 and 1 000 s/mm2 before the surgery and within 24 hours after the surgery.The mean ADC values with different b-values of the ablated and non-ablated tissues between pre-and post-treatment were analyzed by one-way ANOVA test.The consistency of the ablation area between ADC maps with different b-values and contrast enhancement MRI were evaluated. Results With the b-value of 150 s/mm2 ,the mean ADC value of the ablated tissue was (1.48±0.27)×10-3 mm2/s,which was less significantly than that of pre-treatment (2.06±0.21)×10-3 mm2/s and non-ablated tissue (1.98±0.23)×10-3 mm2/s (P<0.05). However,there were no significant differences in ADC values with the b values of 600 s/mm2 and 1 000 s/mm2 among those areas (P>0.05).A fine consistency of the ADC map with the low b-value (150 s/mm2 )was found with non-perfusion volume on contrast-enhanced T1 WI,which was superior to that with high b-values (600 s/mm2 and 1 000 s/mm2 )(P<0.05).Conclusion ADC map with low b-value (150 s/mm2 )can be used to evaluate the blood-supply changes and ablated volume of uterine fibroids indirectly,which helps to assess the treatment effect of HIFU.

Background and objective There have been several studys about transbronchial needle aspiration (TBNA) combined with rapid on-site evaluation (ROSE) so far at home and abroad, yet few studys were especially for patients with lung cancer. hTe aim of our study is to investigate the effect of TBNA combined with ROSE in the diagnosis of lung can-cer. Methods hTe data of the patients from December 2012 to December 2013, who were performed with TBNA and ultimate-ly diagnosed with lung cancer in the People’s Hospital of Binzhou City, were retrospectively analyzed. hTe patients were divided into two groups, ROSE group (rapid on-site evaluation group) and no-ROSE group (the group without rapid on-site evalu-ation). Among these patients, 37 patients were in the ROSE group and 32 patients were in the no-ROSE group. hTe result of ROSE and HE stain, the diagnostic yields and needle passes of each lymph node, the complication and cytology diagnostic cost of TBNA with ROSE and without ROSE were compared. Results hTe coherence of ROSE and HE stain was 94.1%(32/34). hTe diagnostic yields of TBNA were 91.9%(34/37) and 78.1%(25/32) in ROSE group and no-ROSE group respectively, no signiifcant differences were found. But the median number of needle passes of each lymph node and the percentage of the com-plication in ROSE group and no-ROSE group was signiifcantly lower (t=29.5, P<0.05 andχ2=4.4, P<0.05, respectively). hTe cytopathological diagnostic cost of ROSE group was signiifcantly lower compared with no-Rose group (t=10.9, P<0.05). Con-clusion TBNA combined with ROSE has good concordance with HE stain in the diagnosis of lung cancer, and could reduce the needle passes, cytopathological diagnostic cost and complication, worthy of popularized.

BACKGROUND:Currently rats are the most frequently used animal for the models of osteoporosis and
ovariectomized rat models have been widely applied due to ovariectomized female rats are similar to human body in bone mineral density changes and response after estrogen administration.
OBJECTIVE:To establish rat models of osteoporotic tooth extraction wound healing, and to investigate the effect of estrogen on the interleukin-1 expression and distribution in the remodeling of osteoporotic alveolar bone.
METHODS:Sixty-five purebred female rats, 3 months old, were randomly divided into two groups:osteoporosis model group (n=40;ovariectomy under general anesthesia) and sham operation group (n=25;fat tissue around ovary was removed). After 8-week feeding, osteoporosis models were established and the left upper molar was pul ed out under general anesthesia. Histomorphomeric parameters test was performed on the jaw bone. In osteoporosis model group, 15 rats were randomly selected to give subcutaneous injection of estradiol benzoate, as the estrogen treatment group. Immunohistochemical method was applied to observe the interleukin-1 expression in the remodeling of osteoporotic alveolar bone.
RESULTS AND CONCLUSION:After ovariotomy, the amount of trabecula decreased and the medul ary cavity of the bone became larger, the jaw bone intensity decreased. After administration of estrogen, the positive expression of interleukin-1 was reduced as compared with osteoporosis model group. Experimental findings indicate that, osteoporosis can be detected in Sprague-Dawley female rats aged 3 months at 8 weeks after ovariotomy, and administration of estrogen can obviously decrease interleukin-1 positive expression in the remodeling of osteoporotic alveolar bone.

10.3969/j.issn.1000-3606.2013.06.010

Objective To investigate the clinical efficacy of the treatment of long-term non-invasive positive pressure ventilation (NIPPV) combined with inhaling corticosteroids in patients with stable chronic o0bstructive pulmonary disease(COPD) complicated with respiratory failure,and to investigate the impact of longterm NIPPV combined with inhaling corticosteroids on serum levels of matrix metalloproteinase-9 (MMP-9).Methods Eighty outpatients of stable severe COPD complicated with respiratory failure divided them equally into two treatment groups (the experimental and the control groups).The two groups of patients were given oxygen therapy,inhalation of Salmeterol and fluticasone propionate powder for one year.The experimental group received additionally NIPPV therapy for 1 year.The outcomes measured included St.George's questionnaire (SGRQ) score,MMRC score,6-min working time (6-MWT),arterial partial pressure of oxygen (PaO2),partial pressure of carbon dioxide(PaCO2),Forced expiratory volume in 1 (FEV1％),and the serum levels of MMP-9 before and after treatment,and frequency of acute exacerbations of COPD and hospital says in the last one year and the following 12 months.Results After 1 year,the differences of SGRQ score,MMRC score,6-MWT,PaO2,PaCO2,FEV1％,MMP-9 in the experimental group ((63.38 ±4.46) vs.(52.93 ±4.30),t =10.67,P =0.00;(3.60±0.50) vs.(2.40 ±0.50),t =10.82,P=0.00;(159.90 ±6.50) m vs.(247.10±9.66) m,t=47.39,P=0.00;(56.85 ± 1.67) mm Hg vs.(66.10 ±2.59) mm Hg,t =10.67,P =0.00;(60.38 ±3.58)mm Hgvs.(51.88 ±3.05)mm Hg,t=10.82,P=0.00; (38.93 ±3.22)％ vs.(42.12 ±3.11)％,t=47.39,P =0.00;(182.58 ±6.60) μg/L vs.(171.73 ±6.19) μg/L,t =7.58,P =0.00) were statistically significant compared to the control group ((63.88 ± 4.88) vs.(54.30 ± 4.13),t =8.77,P =0.00; (3.65 ± 0.48) vs.(2.70±0.46),t =8.97,P =0.00;(157.98 ±5.97) m vs.(218.08±13.12) m,t =26.38,P=0.00;(56.65 ±1.51)mm Hg vs.(62.60 ± 1.91)mm Hg,t=8.77,P=0.00; (60.20 ±3.52)mm Hg vs.(56.25 ±3.09)mm Hg,t =8.97,P =0.00; (38.93 ±2.96) ％ vs.(40.70 ±3.27)％,t =26.38,P =0.00; (180.55 ±4.78) μg/L vs.(173.05 ± 5.28) μg/L,t =6.66,P =0.00).The frequency of acute exacerbations of COPD and hospital stay days were significantly decreased in the experimental group than in the control group.Conclusion Long-term NIPPV combined with inhaling corticosteroids could significantly improve the quality of life and lower the serum levels of MMP-9 of patients with severe stable COPD complicated with respiratory failure.

Objective:To determine the protective effect of cardio-pulmonary bypass(CPB) with autologous lung as oxygenator on CPB-relative inflammatory response.Methods:Twelve adult mongrel dogs were randomly divided into control group and study group.Cardiopulmonary bypass (CPB) using a membrane oxygenator (control group) or using the autologous lung (study group) for gas exchange was performed for 120 min in an alternating series of 12 mongrel dogs with the heart arrested for 90 min by crystalloid cardioplegia and 30 min reperfusion.The blood samples were collected at the same time point of pre-operation(T1),60 min of cardiopulmonary bypass(T2),and 1 hour(T3),2 hours(T4) after cardiopulmonary bypass. Plasma concentration of IL-6,IL-10,TNF-α were detected with ELISA.Results:The plasma levels of IL-6,IL-8,IL-10,TNF-α in each group were significantly increased at T2,T3,T4.The plasma levels of IL-6,IL-8 and TNF-α in study group were significantly lower than in the control group at T2,T3,T4.The plasma levels of IL-10 in study group were significantly higher than the levels in control group at T2,T3,T4.Conclusion:This study indicates that extracorporeal circulation with autologous lung as oxygenator could reduce the increased amplitude of plasma levels of TNF-α,IL-6 and IL-8 whereas enhance the increased amplitude of the plasma IL-10 levels that result from CPB.In other word,extracorporeal circulation with autologous lung as oxygenator possesses the effect to regulate inflammatory cytokine balance and down-regulate CPB-relative inflammatory response.