Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the degeneration of upper and lower motor neurons selectively. Although the motor system lesion is the most predominant clinical manifestation of ALS, with the progression of the understanding of the pathogenesis and clinical detection of the disease, more and more patients are found to have extra-motor features of ALS, such as somatosensory involvement, etc. The research results demonstrated that ALS might be a kind of disorder combined with sensory disturbance according to the electrophysiology, neuropathology, neuroimaging, animal model simulation, genetic evidence, and other methods detected. We, herein, review the prevalence and detection methods especially the aspect of genetic associations implicated in the sensory nerve disturbance of ALS.

Objective To explore the effect of all trans retinoic acid (ATRA) on the expression of CD106 and CD54 in human bone mesenchymal stem cells and cell growth curve in vitro. Methods The expression of CD54 and CD106 of human BM-MSC was detected by flow cytometry, and cell growth curve of human BM-MSC was tested by MTT assay after coculturing with 0.01, 0.1, 1.0 and 10.0 μmol/l ATRA, respectively. Results The expression of CD54 and CD106 is increased by 0.01, 0.1, 1.0 and 10.0 μmol/1 ATRA in vitro. Conclusion The expression of CD54, and CD106 of human BM-MSC was up-regulated by ATRA.

Objective:To investigate the clinicopathological characteristics and 18F-fluorodeoxyglucose (FDG) PET/CT imaging features of bronchopulmonary neuroendocrine tumors(BP-NETs) with different pathological subtypes. Methods:From January 2013 to May 2018, 280 patients (196 males, 84 females, median age 58 years) with BP-NETs proved by pathology in Henan Provincial People′s Hospital were retrospectively analyzed. Age, gender, smoking history, the location and size of tumor, Ki-67 positive index, thyroid transcription factor-1 (TTF-1), synaptophysin (Syn), chromogranin-A (CgA), CD56, maximum standardized uptake value (SUV max), lymph node metastasis and distant metastasis were compared among 4 pathological subtypes of BP-NETs, including typical carcinoid (TC), atypical carcinoid (AC), small cell lung carcinoma (SCLC) and large cell neuroendocrine carcinoma (LCNEC). One-way analysis of variance, χ2 test, Fisher exact test and Kruskal-Wallis rank sum test were used for data analysis. Results:There were significant differences in age, smoking history, tumor size and location, Ki-67 positive index, CgA, CD56, TTF-1, SUV max and TNM stage among TC( n=59), AC( n=21), SCLC( n=184) and LCNEC ( n=16) groups ( F values: 2.067, 3.358, H values: 17.749-22.351, all P<0.05). SCLC had the largest tumor size (5.5(3.0, 6.8) cm) and the highest proportion of central type (85.3%, 157/184), and were more prone to lymph node metastasis. LCNEC had the oldest age ((66±16) years), the largest proportion of smoking history (14/16) and peripheral type (12/16). CD56 in SCLC (95.7%, 176/184) and LCNEC(15/16) mostly showed positive expression, while the positive expression rates of CgA and TTF-1 were higher in TC and AC (96.6%(57/59), 93.2%(55/59) and 95.2%(20/21), 90.5%(19/21), respectively). The Ki-67 positive index and SUV max of the four subtypes were significantly different, with the highest in SCLC group and the lowest in TC group. Conclusion:Different pathological subtypes of BP-NETs manifest different clinicopathological features and imaging presentation on 18F-FDG PET/CT, which are useful for understanding their characteristics.

Objective To evaluate the clinical significance of glycated albumin (GA), a parameter in reflecting recent glycemic control, in patients with impaired glucose regulation (IGR) and newly diagnosed diabetes mellitus. Methods From January to June 2007, 516 subjects who accepted oral glucose tolerance test (OGTT) in out-patient department were randomly enrolled, including 130 with normal glucose regulation (NGR), 154 with IGR and 232 with diabetes mellitus. The fasting plasma glucose (FPG), 0.5 h plasma glucose (PG), 1hPG, 2hPG, 3hPG after glucose loading, HbA1c and GA were measured in each subject. The correlation between GA and the other parameters were analyzed. Results There were significant differences in the values of GA among NGR, IGR and diabetes mellitus groups (all P < 0.01), but no difference in the values of HbA1c between NGR group and IGR group (P > 0.05). GA was positively correlated with HbA1c (r = 0.75, P < 0.01). Stepwise regression analysis showed that FPG, 2hPG and body mass index were the major independent contributing factors. Conclusion The combination of plasma glucose with GA measurement may be helpful in evaluating the status of glucose metabolism.

ObjeclJve To definine the corresponding value to glycated albumin(GA)for a specific target of HbAlc,and to elvaluate the relationship between GA and HbA1c.Methods From Oct.2006 TO Apr.2009, 2 532 subjects were enrolled who accepted oral glucose tolerance test(OGtt)in out-patient department,including 898 with normal glucose regulation,695 with impaired glucose regulation,and 939 with newly-diagnosed diabetes.GA was measured with liquid enzymatic method.HbA1c was measured with high performance liquid chromatography method.The plasma glucose was measured at fasting,0.5 h,1 h,2 h,and 3h after glucose load.The correlation among GA,HbA1c and the other parameters monitored was analyzed.Results (1)The levels of HbA1c and GA in 2 532 subjects were(6.3±1.1)% and(17.9±4.5)%.The ratio of GA/HbA1c was 2.85±0.51.(2)HbAlc and GA were positively correlated with fasting,0.5 h,1 h,2 h and 3 h plasma glucose(r was in 0.567-0.776,atl P<0.01).(3)GA was significantly correlated with HbA1c(r=0.701,P<0.01).Linear regression analysis,using GA and HbA1c summarized by patient(n=2 532),produced a relationship of GA=2.871×HbA1c-0.112.The change in GA per increase of 1% HbA1c was 2.87%.When HbA1c level was 6.5%,the expected value of GA was 18.5%.The sensitivity,specificity,positive predictive value,negative predictive value,and accuracy with GA≤18.5% to predict HbA1c≤6.5% were 82.32%,72.49%,86.48%.65.73%,and 79.19%,respectively.When HbA1c level was 7.0%,the expected value of GA was 20.O%.When HbA1c level was 7.5%.the expected value of GA was 21.4%.Conclusions We initially establish the corresponding value to GA for a specific target of HbA1c and provide the basis for clinical application.

Objective To study the clinical characteristics and genetic cause of a Chinese family affected with paroxysmal kinesigenic dystonia(PKD).Methods The detailed clinical data and the blood samples of the affected patients with PKD and their relatives were collected.After genomic DNA was extracted from blood leukocytes,target linkage analysis Was performed using multiplex PCR by microsatellite marker's located in the reported critical region on chromosome 16.All exons and flanking regions of SCNN1G and ITGAL genes were amplified by PCR-sequence.Results In this three-generation 12 member family,5 individuals have been diagnosed as PKD.Target linkage analysis suggested the disease gene linked to chromosome 16.between D16S3396 and D16S3057 with two-point LOD score of 1.47 at recombination fraction(θ)=0.0.All affected individuals shared a common haplotype which co-segregated with the phenotype.Except for 8 reported SNPs,no pathologic sequence variants were found in candidate genes SCNN1G and ITGAL.Conclusions The studied family is genetically linked to the reported critical locus of PKD on chromosome 16.SCNN1G and ITGAL were ruled out as the causative genes for the studied pedigree.Further genetic analysis in this family may reveal new genetic cause responsible for PKD.

Objective To investigate the gender difference of the plasma lactic acid(LA) levels in type 2 diabetics with normal renal and hepatic function, and the effect of metformin on LA levels in the difference gender. Methods A total of 1 021 type 2 diabetic inpatients with normal renal and hepatic functions were collected,including metformin treatment group (213 males and 210 females) and metformin non-treatment group (299 males and 299 females). LA was measured with enzyme-electrode assay. Fasting plasma glucose ( FPG), creatinine ( Cr), and alanine aminotransferase ( ALT) levels were determined. Results LA level in metformin treatment group was significantly higher than that in metformin non-treatment group [ (1.32±0.53 vs 1.14±0.49) mmol/L,P<0.01],and 61 cases had hyperlactacidemia but no lactic acidosis was found. Spearman correlation analysis showed that LA level was positively associated with gender,metformin, and body mass index( BMI) apart from Cr and ALT( P<0.01). Multivariate logistic regression analysis showed that gender,Cr,ALT,and metformin were independent correlated factors of hyperlactacidemia. LA levels in females were higher than those of males in the whole group and two groups treated or not treated with metformin (all P<0. 05 ). LA levels in females were higher compared to male in Cr and ALT subgroups,as well as age subgroups,especially with age younger than 45 years old (P=0.021). Conclusions There is gender difference of lactate level in diabetic patients,and the effect of metformin on the plasma lactate levels of different gender is varied. The plasma LA level in females,especially those approaching menopause,are prone to hoist.

Objective To assess the status and severity of bone disease in patients with multiple myeloma (MM) by using chest computerized tomography (CT) and the relationship between clinical prognostic parameters and bone disease.Methods All 46 newly diagnosed MM in-patients received both imaging tests of chest CT and plain X ray.An experienced radiologist reviewed all the imaging data.Clinical laboratory parameters,stages of Durie-Salmon (DS) and International Staging System (ISS) were evaluated.Five cytogenetic abnormalities of bone marrow myeloma cells were tested by fluorescence in situ hybridization (FISH).Results The sensitivity of CT and X ray to determine pathological fractures was comparable,the positive rates of which were 41.3％ (19/46) and 30.4％ (14/46) respectively (P =0.29).Nevertheless,the positive rate of osteolytic lesions ascertained by CT was significantly higher than that by X ray (P ＜ 0.001),60.9％ (28/46) vs 13.0％ (6/46) with diameter 5-10 mm and 50.0％ (23/46) vs 10.9％ (5/ 46) with diameter more than 10 mm.Osteolytic lesion numbers found by CT were more than those by X ray [5(0-21) vs0(0-4) lesions with diameter5-10 mm (P＜0.001),2(0-14) vs0(0-2) lesions with diameter more than 10 mm (P ＜ 0.001),respectively].Patients with positive osteolytic lesions had higher percentage of RB1 gene deletion[46.7％ (14/30) vs 18.8％ (3/16),P ＜0.001],D13s319 deletion [43.3％ (13/30) vs 18.8％ (3/16),P ＜0.001] and high risk cytogenetic abnormalities[50.0％ (15/30) vs 25.0％ (4/16),P ＜ 0.001].Conclusions Chest CT is more sensitive than plain X ray in detecting osteolytic myeloma bone disease.Osteolysis determined by CT is relevant to clinical DS stages and risk stratification of cytogenetic abnormalities.

BACKGROUND:Theex-vivo expanded autologous adipose-derived stem cels have the capability of multipotential differentiation and have a broad application prospect in the field of tissue engineering and regenerative medicine. OBJECTIVE:To observe the nasal mucosal structural repair and functional reconstruction usingex-vivo expanded autologous adipose-derived stem cels. METHODS:Ten patients with mucosal damage due to the physical or chemical factors were enroled, including six cases of mucosal scar and four cases of mucosal ulceration. Autologous adipose tissue was extracted forin vitro isolation, culture and expansion of adipose-derived stem cels. Before transplantation, quality safety testing was done. Al the patients were injected adipose-derived stem cels (1×107/cm2 0.1 cm mucosal tissue sample at 30 days before and after transplantation for hematoxylin-eosin staining, Masson ) at an interval of 15 days, totaly for three times. Nasal volume, minimum cross-sectional area, and mucociliary clearance function were determined at 30, 90, 150 days after the final injection. Three of 10 patients were selected to take a 0.1 cm× trichrome staining, and AB-PAS staining. RESULTS AND CONCLUSION:Clinical symptoms were aleviated in al patients undergoing transplantation of adipose-derived stem cels. Compared with the baseline data, the nasal volume and minimum cross-sectional area were both decreased at 30, 90, 150 days after transplantation (P < 0.05), and the mucociliary clearance function was improved but not significantly (P > 0.05). Compared with the baseline data, the inflammation of the nasal mucosa was significantly reduced, colagen fibers arranged neatly, the deposition was decreased, and mucin secreted from goblet cels was increased in the selected three patients at 30 days after cel transplantation. These findings indicate thatex-vivo expanded autologous adipose-derived stem cels can be used to reconstruct the nasal mucosal structure and its function.

Objective To observe effect of using ambroxol to humidify of airway during mechanical ventilation to treat severe pneumonia in infants,and to explore dynamic changes of respiratory mechanics.Methods Sixty-five infants with severe pneumonia need ventilator treatment according the diagnosis criterion were divided into 2 groups by random digits table method:experimental group (33 cases) and control group (32 cases).Experimental group was used ambroxol and control group was used 0.9％ sodium chloride,each 2 ml intratracheal instillation,and then took the balloon pressurized oxygen 30 s,followed by ventilator,after 24 h.Changes of respiratory mechanics indexes were observed before and after treatment,including:mean airway resistance,lung dynamic compliance,work of breathing,airway plateau pressure.Respiratory mechanics values were recorded before and after treatment.Results After treatment for 24 h,the index in experimental group were better than those in control group.Mean airway resistance were (0.68 ± 0.04) cmH2O/ (L·s) and (0.57 ± 0.05) cmH2O/ (L·s),1 cmH2O =0.098 kPa,lung dynamic compliance were (3.17 ± 0.81) ml/kPa and (2.56 ± 0.69) ml/kPa,work of breathing were (0.54 ± 0.08) J/L and(0.41 ± 0.06) J/L,airway plateau pressure were (2.23 ± 0.58) cmH2O and (2.12 ± 0.63) cmH2O.There were significant differences (P ＜ 0.05).The mechanical ventilation time in experimental group was significantly shorter than that in control group [(64.08 ± 13.92) h vs.(79.57 ± 19.64) h] (P ＜0.05).Conclusion Airway humidification using ambroxol can better treat severe pneumonia,reduce airway resistance and improve alveolar ventilation,shorten time on the machine.