Clinical and gene mutation features of cystic fibrosis: an analysis of 8 cases / 中国当代儿科杂志

OBJECTIVES@#To study the clinical features and gene mutation sites of children with cystic fibrosis (CF), in order to improve the understanding of CF to reduce misdiagnosis and missed diagnosis.@*METHODS@#A retrospective analysis was performed on the medical records of 8 children with CF who were diagnosed in Hebei Children's Hospital from 2018 to 2021.@*RESULTS@#Among the 8 children with CF, there were 5 boys and 3 girls, with an age of 3-48 months (median 8 months) at diagnosis, and the age of onset ranged from 0 to 24 months (median 2.5 months). Clinical manifestations included recurrent respiratory infection in 7 children, sinusitis in 3 children, bronchiectasis in 4 children, diarrhea in 8 children, fatty diarrhea in 3 children, suspected pancreatic insufficiency in 6 children, pancreatic cystic fibrosis in 1 child, malnutrition in 5 children, and pseudo-Bartter syndrome in 4 children. The most common respiratory pathogens were Pseudomonas aeruginosa (4 children). A total of 16 mutation sites were identified by high-throughput sequencing, multiplex ligation-dependent probe amplification, and Sanger sequencing, including 5 frameshift mutations, 4 nonsense mutations, 4 missense mutations, 2 exon deletions, and 1 splice mutation. CFTR mutations were found in all 8 children. p.G970D was the most common mutation (3 children), and F508del mutation was observed in one child. Four novel mutations were noted: deletion exon15, c.3796_3797dupGA(p.I1267Kfs*12), c.2328dupA(p.V777Sfs*2), and c.2950G>A(p.D984N).@*CONCLUSIONS@#p.G970D is the most common mutation type in children with CF. CF should be considered for children who have recurrent respiratory infection or test positive for Pseudomonas aeruginosa, with or without digestive manifestations or pseudo-Bartter syndrome.

Screening result analysis of diabetes in high-risk population in Songjiang District of Shanghai, 2016-2017 / 上海预防医学

Objective To investigate the prevalence of diabetes and impaired glucose regulation in high risks community residents in Songjiang District of Shanghai, and to explore the risk factors affecting their blood glucose metabolism, providing effective suggestions for improving community diabetes prevention and treatment. Methods Questionnaire, physical examination and laboratory testing were used to collect information on the basic characteristics and blood glucose levels of 21 035 residents in Songjiang District who were assessed to be at high risk of diabetes. Results A total of 3 008 people with impaired regulation and 2 241 patients with diabetes were detected.The detection rates were 14.3% and 10.6%, respectively.It was found that as the residents′ age was higher, their education level was lower, high-risk factors for them were numerous, and their detection rates of diabetes and impaired sugar regulation were higher.It was found that age, gender, history of impaired glucose regulation, relatives with type 2 diabetes, hypertension, dyslipidemia and overweight/obesity were all factors influencing blood glucose metabolism (P < 0.05). Conclusion Blood glucose screening in high-risk population of diabetes is helpful for the early detection of diabetic patients and those with impaired glucose regulation.It is necessary to strengthen the attention of population at risk of diabetes and take appropriate interventions.

Analysis on the disinfection quality in nurseries and kindergartens in Changning District of Shanghai from 2010 to 2014 / 上海预防医学

Objective To investigate the disinfection quality and provide scientific basis for the prevention and control of infectious diseases in nurseries and kindergartens in Changning District of Shanghai. Methods On-site investigation and sampling examination were used during the continuous monitoring of the effect of disinfection in nurseries and kindergartens in Changning District of Shanghai. Results The eligible rates of disinfection quality during 2010-2014 in the nurseries and kindergartens of Changning District in Shanghai were 98.07%,98.93%,99.09%,97.11% and 98.10% successively. The eligible rates of indoor air, surfaces of environmental objects, hands of staff, eating utensils, disinfection solution in use were 99.74%,99.67%,93.24%,99.06% and 98.09% respectively. Conclusion The sanitary disinfection quality in nurseries and kindergartens of Changning in Shanghai is satisfactory as a whole, however,there is still weakness in the disinfection quality of the hands of staff, disinfection solution in use and eating utensils.

Testicular cellular fibroma: a clinicopathological observation / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate the clinicopathological characteristics, differential diagnosis and prognosis of testicular cellular fibroma.</p><p><b>METHODS</b>We comprehensively analyzed the clinical presentation, histomorphology and immunohistochemistry of a case of testicular cellular fibroma, reviewed the relevant literature, and discussed its pathological features and differential diagnosis.</p><p><b>RESULTS</b>A 30-year-old man presented with complaint of discomfort and painless enlargement in the right testis. The tumor was found to be a testicular fibroma characterized by a solid, thickly or thinly encapsulated, circumscribed and gray-white mass. Microscopically, fusiform cells were arranged into a storiform and herringbone pattern or fascicles. The tumor exhibited a great deal of cellularity and no nuclear polymorphisms, with a mitotic rate of 0-1/10 HP. Immunohistochemistry showed that the tumor cells were positive for Vimentin, patchily positive for S-100 and SMA, but negative for Desmin, alpha-inhibin, CD34 and CD99. The positive rate of Ki-67 was less than 1%.</p><p><b>CONCLUSION</b>Testicular cellular fibroma is a rare testicular sex cord stromal tumor, pathologically resembling its ovarian counterpart. It can be distinguished from other testicular spindle cell tumors by morphology and immunohistochemical staining. For the treatment of testicular cellular fibroma, surgical resection often has a good prognosis.</p>

Effects of cornel iridoid glycoside on activity of cholinesterases in vitro / 中国中药杂志

The purpose of the present study was to investigate the effects of cornel iridoid glycoside (CIG) on the activity of cholinesterases in vitro, and to investigate the mechanism of CIG's treating Alzheimer's disease (AD). The sources of cholinesterases were prepared from human blood cells, rat brain homogenate and human blood plasma, respectively. The biochemical methods were used to detect the activity of acetylcholine esterase (AChE) and butyryl cholinesterase (BuChE) to investigate the influence of CIG on cholinesterases. The results showed that CIG inhibited the activity of AChE of human blood cells and rat brain homogenate, with the 50% inhibition rate (IC50) of 1.6 g . L-1 and 3.3 g . L-1, respectively; and the inhibition of AChE of CIG is reversible. CIG also inhibited the activity of BuChE of human blood plasma, with the IC50 of 2.9 g . L-1. In conclusion, CIG can inhibit the activity of AChE and BuChE in vitro, which may be one of the mechanisms of CIG to treat AD.

Exploration of the correlation between Chinese medicine syndrome types of verrucous gastritis and the pressions of gastric mucosal hypoxia-inducible factor-1alpha as well as downstream molecules / 中国中西医结合杂志

<p><b>OBJECTIVE</b>To study the expressions changes of gastric mucosal hypoxia-inducible factor-1alpha (HIF-1alpha) and downstream molecules [such as vascular endothelial growth factor (VEGF) and cyclooxygenase-2 (COX-2)] of verrucous gastritis (VG) patients of different Chinese medicine (CM) syndrome types and their clinical significance.</p><p><b>METHODS</b>Totally 94 VG patients were assigned to Gan-Wei disharmony group (GWDG, 28 cases), the damp-heat in Pi-Wei group (DHPWG, 17 cases), the blood stasis in Wei-collateral group (BSWCG, 20 cases), and the insufficiency of Pi-yang group (IPYG, 29 cases). Another 30 patients with chronic mild non-active superficial gastritis patients accompanied with negative Hp infection were recruited as the control group. The Hp infection was detected using 14C-labeled urea breath test. The expressions of HIF-1alpha, VEGF, and COX-2 in the gastric mucosal tissue were detected using immunohistochemical EnVision two-step test.</p><p><b>RESULTS</b>The positive Hp infection rate in VG patients was 37.23% (35/94 cases). The positive Hp infection rate in patients of DHPWG (76. 47%) was significantly higher than the other three groups (32.14% in GWDG, 31.03% in IPYG, and 20.00% in BSWCG, P < 0.01). The expressions of HIF-1alpha and COX-2 in VG patients of different syndrome types were obviously higher than those of the control group (P < 0.01, P < 0.05). Of them, the expression of HIF-1alpha was the highest in BSWCG and the expression of COX-2 was the highest in DHPWG. The expression of VEGF was higher in DHPWG and IPYG than in the control group and the GWDG (P < 0.01, P < 0.05).</p><p><b>CONCLUSIONS</b>The expressions of HIF-1alpha, VEGF, COX-2, and Hp infection showed certain changes in VG patients of different syndrome types. The expression of HIF-1alpha was the strongest in BSWCG. The expressions of VEGF and COX-2 as well as Hp infection were the highest in DHPWG. All showed the specificity of CM syndromes.</p>

The impact of water level changes on distribution of snails around lake areas reacted by thematic mapper images / 中华预防医学杂志

<p><b>OBJECTIVE</b>To study the impact of water level changes on the distribution of snails around lakes, and to study the possibility of forecasting the distribution of snails according to changes of water level reacted by remote sensing images.</p><p><b>METHODS</b>All information including water level information of Xingzi Hydrometric Station from 1997 to 2007, twelve TM images of Poyang Lake between 1998 and 2006 were collected. The water areas of Poyang Lake was extracted by MNDWI threshold approach, and the relationships between water areas from TM images and water level from Hydrometric Station was analyzed; Majiawan and Menqiantan marshland of Zhuxi village, Xingzi county was chosen as study pilot to set frames and investigate snails 2991 frames in 2007, and the information of snails of this pilot from 1998 to 2006 was collected to analyze the relationships between snails and water level.</p><p><b>RESULTS</b>The water areas of Poyang Lake extracted from Remote Sensing images from 1998 to 2006 was 1658.73 - 5873.48 km(2), and the corresponding daily water level of Xingzi Hydrometric Station was 9.96 - 21.72 m, according to correlation analysis, they were positive correlation relationship, the correlation coefficient was 0.96 (P < 0.01), and build a model: S = 5189.96 x ln(h) - 10 284.97; the percent of frames with living snail of zhuxi pilot from 1998 - 2007 was 28.33% - 77.46%, the corresponding monthly average water level of last August was 13.19 - 21.96 m, the corresponding highest water level of last year was 15.97 - 21.96 m, according to correlation analysis. The percent of frames with living snail of zhuxi pilot was negatively correlated with the corresponding monthly average water level of last August and the corresponding highest water level of last year, and the correlation coefficient was -0.69 (P < 0.05), and -0.77 (P < 0.01) respectively.</p><p><b>CONCLUSION</b>Water areas of Poyang Lake extracted from remote sensing images could well express the actual changes of water level, and the highest water level ahead of the year investigating snails influence the distribution of snails, thus we can estimate the distribution of snails around lakes by remote sensing images.</p>

The immunological effects of three doses of a live attenuated hepatitis A vaccine (H2 strain) in 8 years / 中华实验和临床病毒学杂志

<p><b>OBJECTIVE</b>To observe the immunological effects of three doses of H2 strain live attenuated hepatitis A vaccine 8 years after the administration and to compare with that of one dose of the vaccine.</p><p><b>METHODS</b>In a country area, 110 children of 1 to 7 years old susceptible to HAV were screened and administered with one dose of the vaccine, as group B; Group A were 42 children from one of the villages and administered with 3 doses of the vaccine according to 0, 2, 6 month schedule. Blood samples were taken for the children 1, 2, 6, 7, 8, 12, 24, 36 and 96 months after the administrations respectively and detected for anti-HAV antibody.</p><p><b>RESULTS</b>For group B, the sero conversion rate of anti-HAV and GMC reached peak at 92.2% and 126.2 mIU/ml respectively, and then, began to drop with time; For group A, after 2 dose of the vaccine, the sero-conversion rate reached 100%, and the GMC reached peak of 2 739 mIU/ml one month after the third dose at 7 months. So that, group A has a better short-term immunological effects than that of group B. During 36 through 96 months, the anti-HAV positive rate in group B was 75%-71% and 80-89 mIU/ml respectively, and comparatively in group A were 100% and 918.2-480.6 mIU/ml respectively. The differences between group A and B were significantly important.</p><p><b>CONCLUSION</b>A 3-dose schedule administration of H2 strain live attenuated hepatitis A vaccine has better immunological effects than 1-dose schedule in 8years and further observations are needed.</p>

Construction and identification of a recombinant lentivirus harboring small interfering RNA targeting mouse CD99 antigen-like 2 gene / 南方医科大学学报

<p><b>OBJECTIVE</b>To construct a recombinant lentivirus harboring RNA interference sequence targeting mouse CD99 antigen-like 2 (mCD99L2) gene and observe its infection efficiency of 293FT cells.</p><p><b>METHODS</b>Four pairs of small interfering RNAs (siRNAs) targeting mCD99L2 cDNA were designed, synthesized and linked to the lentivirus vector SD1259 to construct the lentivirus shuttle plasmids. After sequencing, the 4 lentivirus shuttle plasmids were transfected into 293FT cells in the presence of packaging plasmids. Forty-eight hours later, the supernatant was collected and the titer and infection efficiency of the recombinant lentivirus were determined according to the expression of the reporter gene enhanced green fluorescent protein (EGFP) under fluorescent microscope.</p><p><b>RESULTS</b>DNA sequencing demonstrated that mCD99L2 siRNAs were successfully cloned to the lentiviral vector SD1259. The titer of concentrated virus was 1x10(7)/ml in the supernatant of the infected cells.</p><p><b>CONCLUSION</b>The recombinant lentivirus containing siRNA targeting mCD99L2 gene has been successfully constructed, which provide the basis for future establishment of visualized cell model and animal model of Hodgkin's lymphoma.</p>

Nuclear microarray combined with fluorescence in situ hybridization for detecting ALK gene translocation in paraffin-embedded anaplastic large cell lymphoma and its significance / 南方医科大学学报

<p><b>OBJECTIVE</b>To compare the efficacy of nuclear microarray combined with fluorescence in situ hybridization (FISH) and immunohistochemistry in detecting ALK gene translocation and ALK fusion protein in anaplastic large cell lymphoma (ALCL).</p><p><b>METHODS</b>ALK gene translocation and ALK fusion protein in 17 paraffin-embedded ALCL specimens were detected using nuclear microarray combined with FISH and immunohistochemical straining, respectively.</p><p><b>RESULTS</b>The expression of ALK fusion protein was detected immunohistochemically with ALK antibody in 8 of the 17 specimens of systemic ALCL, including 4 with both nuclear and cytoplasmic positivity and 4 with only cytoplasmic positivity. Dual-color FISH identified 6 positive specimens, including the 4 specimens with both nuclear and cytoplasmic positivity as identified immunohistochemically, and 2 with immunohistochemical cytoplasmic positivity. FISH yielded negative results for the 2 specimens with immunohistochemical cytoplasmic positivity.</p><p><b>CONCLUSION</b>Nuclear microarray combined with FISH eliminated the cytoplasmic interference of the results of conventional FISH and provides a high-throughput platform for clinical detection with greater specificity than immunohistochemistry.</p>

Role of apoptosis of neutrophils and vascular endothelial cells and changes of relative factors in the pathogenesis of traumatic sepsis at the advanced stage / 中华创伤杂志

Objective To explore the role of apoptosis of neutrophils and vascular endothelial cells and changes of relative cytokines and thrombotic factors in the pathogenesis of traumatic sepsis at the advanced stage.Methods The venous blood was collected from the patients with traumatic sepsis at advanced stage and traumatic patients without sepsis and healthy subjects.The peripheral hlood mononu- clear cells(PBMC)and neutrophils were isolated and cultured.The apoptosis of neutrophils and vascular endothelial cells was assayed,and the level of IL-4,IL-10 in PBMC culture supernatants were deter- mined,and the tissue factor(TF)and vW factor(vWF)of peripheral plasma were measured.Results The percentages of apoptosis of neutrophils and numbers of apoptotic circulating vascular endothelial cells were higher than that of traumatic patients without sepsis and healthy controls significantly.And the levels of anti-inflammatory cytokines IL-4,IL-10 and thrombotic factors TF,vWF in traumatic sepsis were elevated than that of traumatic patients without sepsis and controls too.Conclusion Immune suppres- sion and abnormal thrombotic state may be one characteristic of traumatic sepsis at advanced stage,which perhaps involveds in the pathogenesis of traumatic sepsis at the advanced stage and multiple organ dys- function syndrome.