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OBJECTIVE@#To explore the genetic basis for a child with Rothmund-Thomson syndrome (RTS).@*METHODS@#The child has featured poikeloderma, short stature, cataract, sparse hair and skeletal malformation. Peripheral blood samples of the child and her family members were collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing.@*RESULTS@#The child was found to harbor compound heterozygous variants of the RECQL4 gene, namely c.1048_1049delAG and c.2886-1G>A, among which c.2886-1G>A was unreported previously. According to the ACMG guidelines, the c.1048_1049delAG was predicted to be pathogenic (PVS1+PM3_Strong+PM2), while the c.2886-1G>A was predicted to be likely pathogenic (PVS1+PM2).@*CONCLUSION@#The compound heterozygous variants of the RECQL4 gene probably underlay the pathogenesis of RTS in this patient. Above finding has enriched the mutational spectrum of the RECQL4 gene.
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Child , Female , Humans , Family , Mutation , RecQ Helicases/genetics , Rothmund-Thomson Syndrome/genetics , Exome SequencingABSTRACT
Objective:To analyze the epidemiological and clinical characteristics of patients with tsutsugamushi disease in Hainan Province, so as to provide basis for diagnosis, treatment, prevention and control of the disease.Methods:Clinical data of 93 patients with tsutsugamushi disease in the Second Affiliated Hospital of Hainan Medical University from January 2018 to December 2019 were collected. Epidemiological data, clinical manifestations, examination results, treatment and outcome of the patients were retrospectively analyzed.Results:Of totally 93 patients with tsutsugamushi disease, 48 were male and 45 were female, with an average age of 50.73 years old. The peak time of onset was from June to October, with 46 cases (49.46%). Seventy cases (75.27%) were farmers, and 84 cases (90.32%) had a clear history of field work or grassland contact before onset. The clinical manifestations were fever (93/93, 100.00%), eschar or ulcer (42/93, 45.16%), headache (65/93, 69.89%), chills (60/93, 64.52%), rash (35/93, 37.63%), lymphadenopathy (51/93, 54.84%) and fatigue (40/93, 43.01%). Laboratory examination results: eosinophil reduced (74/93, 79.57%), platelet reduced (32/93, 34.41%); alanine aminotransferase, C reactive protein (CRP), procalcitonin (PCT) and erythrocyte sedimentation rate (ESR) were increased in 81.72% (76/93), 97.85% (91/93), 20.43% (19/93) and 72.04% (67/93) of the patients, respectively. Eighty-four cases (90.32%) had abnormal results of chest imaging. All patients were cured by doxycycline.Conclusions:Tsutsugamushi disease is prevalent in summer and autumn in Hainan. It has various clinical manifestations. Doxycycline is an effective treatment drug. It is suggested that the relevant departments should strengthen the training of clinical diagnosis and treatment of tsutsugamushi disease by local clinicians to reduce the misdiagnosis rate.
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OBJECTIVE:To analyze and identify the metabolites of tuberostemonine in rats plasma,urine and feces,and to clarify metabolic pathway of tuberostemonine. METHODS:Rats were randomly divided into blank group(0.3% carboxymethyl cellulose)and medication group(tuberostemonine 50 mg/kg,i.g.),with 6 rats in each group.The plasma of rats was collected 0.25, 0.5,1,2,4,6,12 h after intragastric administration to prepare samples. Urine and feces were collected 0-12 h and 12-24 h after administration to prepare samples. UPLC-Q-TOF/MS and software of Triple TOFTMhigh resolution mass spectrometry were used to analyze and identifiy chemical structure of metabolites in samples. RESULTS:A total of 4 compounds were detected in rat plasma, including one prototype compound and 3 metabolites. 4 metabolites were detected in urine and 2 metabolites in feces. Phase Ⅰmetabolites of tuberostemonine mainly included hydration and hydroxylation. Phase Ⅱ metabolites were not found. CONCLUSIONS:Hydration and hydroxylation are the major metabolic transformation forms of tuberostemonine in rats in vivo.
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Objective To study the clinical characteristics,treatment and prognosis of neonatal VACTERL association.Method The clinical data of newborns diagnosed with VACTERL association from January 2010 to December 2015 were collected and retrospectively analyzed.Result A total of 33 patients diagnosed with VACTERL association were included,including 23 males and 10 females.Among them,17 cases were term infants,15 cases premature infants and 1 case of overdue birth,with an admission age of 1 to 24 days.The most common deformities were cardiac anomalies (C) in 27 cases (81.8％),followed by anal atresia/anorectal malformation (A) in 25 cases (75.8％),renal deformity (R) in 24 cases (72.7％),limb abnormalities (L) in 20 cases (60.6％),Tracheoesophageal fistula (TEF) in 8 cases (24.2％) and vertebral abnormalities (V) in 3 cases (9.1％).11 cases (33.3％) had other deformities.Among these 33 patients,24 cases had 3 types of malformations and 9 cases had 4 types of malformations.The most common combination was ACR (n =8).20 patients had no abnormalites on chromosome karyotype test including 2 patients had normal gene microarray results.16 patients received surgical treatment during neonatal period and 13 of them recovered and discharged.Among the other 17 cases received no surgery,only 1 patient improved and discharged.A telephone follow-up was proceeded in 14 discharged cases at 1 year old.Among them,13 cases had good prognosis,however,the remaining one was dead.Conclusion VACTERL association is a rare non-random combination of multiple malformations.The early discovery and appropriately treatment after diagnosis will improve the prognosis and prevent death.Doctors should reinforce the ability to detect various types of deformities and examine the chromosome and gene properly.
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Objective To study the expression of IL-6 and IL-8 in the lung injuries induced by blunt chest trauma under the closure and open state of glottis.Methods The expressions of IL-6 and IL-8 mRNA were detected by RT-PCR in injuried lung tis-sues under the closed and open glottis states snd the control lung tissues at designed different time points.Results The expressions of IL-6 and IL-8 mRNA at 4,8,12h in the closed glottis group were obviously higher than those in the open glttis group (P <0.05) and the expressions at designed various time points in the injured lung tissue were higher than those in the control lung tissues (P <0.05).The change rule of IL-6 and IL-8 mRNA expression in the control group,closed glottis group and open glottis group was similar,the expression was up-regulated.Conclusion IL-6 and IL-8 might play an important role in the occurrence and develop-ment of functional lesion in the injured lung by blunt chest trauma.
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At present, the theory and experiment teaching of forensic toxicology are faced with difficulties such as lake of practical cases and toxic types, content being abstract and difficult to un-derstand. On that account, we collected and collated many typical cases from Public Security Bureau and our school's medico legal expertise center, and then a relatively systematic and complete teaching case base in forensic toxicology has been constructed, and will be supplement constantly, so as to pro-vide extensive teaching resources and improve the teaching quality of forensic toxicology.
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ObjectiveTo explore the relationship between the mRNA and protein expressions of NIX and the pulmonary alveolus apoptosis following severe acute lung injury (ALI).Methods Rat models of severe collision injury on the chest were built.The mRNA and protein expressions of NIX in the alveolar cells at 6,12,24,48,72 and 96 hours after injury were detected using immunohistochemistry,immunoblotting and RT-PCR.Meanwhile,apoptosis of the alveolar cells was checked at different time points with Tunel assay.ResultsThe protein expression of NIX in the alveolar cells was observed both in experimental and control groups,which increased at 6 h post injury,peaked at 48 h and then declined till approaching the pre-injury level at 96 h.In the meantime,NIX showed a high expression both in the vascular endothelial cells (VECs) and the renal interstitial fibroblasts.The apoptosis of alveolar cells mainly presented in bronchi,blood vessel endothelium (BVE) and alveolar epithelium at 24 h post injury.The post-injury apoptosis rate of the alveolar cells was significantly higher than the pre-injury rate ( P ＜ 0.01 ),which reached the peak at 72 h and then decreased gradually.The changes of NIX protein in lung tissue showed a positive correlation with the apoptosis rate of alveolar cells after injury (r =0.303,P ＜ 0.01 ).ConclusionsThe up-regulated expression of NIX takes part in the pathophysiological process of apoptosis of the alveolar cells and shows consistency with the apoptosis rate change of the alveolar cells,as may be the molecular basis for apoptosis of the alveolar cells after ALI.
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Objective To evaluate the efficacy of different methods of biliary stenting for intractable choledocholithiasis.Methods A total of 137 patients with intractable choledocholithiasis were randomly divided into 4 groups to receive different managements.The treatments included single biliary stent placement in group A (n=32),single stent placement plus oral medication in group B (n=35),double stents placement in group C (n=33) and double stents placements plus oral medication in group D (n=37).All biliary stents were placed via endoscopic retrograde cholangiopancreatography (ERCP).Oral medication included ursodeoxycholic acid and/or anethol trithione after the procedure.All patients were closely followed up.Results The size of stones in common bile duct (CBD) decreased in all cases at 3 months after stent placement,with most significant changes in groups C and D than in groups A and B (P＜0.05).The stents kept unobstructed for a mean time of 7.6 months (3.5-20 months),with a significant difference between every 2 groups (P＜0.05) and a longest duration time in group D.A second procedure of ERCP was performed in 72 patients (52.6%),with achievement of total choledocholithiasis clearance in 51 (84.7%).Hyperamylasemia (HA) occurred in 41 cases (29.9%),which were mainly observed in the groups C and D (P ＜0.05).Conclusion Biliary stent placement is a safe and effective palliative therapy for intractable choledocholithiasis,while double stents placements combined with pharmacotherapy is most effective.
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<p><b>BACKGROUND</b>Overexpression of CD44v6 is associated with occurrence, development and metastasis of a variety of human malignant tumors. The aim of this study is to determine the expression of CD44v6 and its prognostic significance in non-small cell lung cancer (NSCLC).</p><p><b>METHODS</b>CD44v6 expression was detected in 52 NSCLC tissues and 12 normal pulmonary tissues by reverse transcription polyme-(rase) chain reaction (RT-PCR) and immunohistochemistry (SP method).</p><p><b>RESULTS</b>The positive expression rate of CD44v6 was 69.2% (SP method) and 75.0% (RT-PCR method) in NSCLC, respectively. Significantly higher expression of CD44v6 was demonstrated in poorly differentiated tumors than that in moderately/well differentiated tumors (P < 0.05). The expression of CD44v6 was remarkably higher in patients with lymphatic metastasis than that in those without lymphatic metastasis (P < 0.01). CD44v6 expression in stage III NSCLC was remarkably higher than that in stage I and II NSCLC (P < 0.05). Survival rate of patients with negative CD44v6 expression was significantly higher than that of those with positive CD44v6 expression (P=(0.0115)). Multi-variate logistic analysis showed the expression of CD44v6 (P=0.048) and pTNM stage (P=0.035) were significantly prognostic factors.</p><p><b>CONCLUSIONS</b>Overexpression of CD44v6 is very common in lung cancer tissues. Detection of CD44v6 expression may be helpful to predict the prognosis of NSCLC patients.</p>
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<p><b>BACKGROUND</b>To study the expression of CD44v3 and its prognostic value in non-small cell lung cancer (NSCLC).</p><p><b>METHODS</b>CD44v3 expression was detected in 52 NSCLC tissues and 12 normal pulmonary tissues by reverse transcription-polymerase chain reaction (RT-PCR) and immunohistochemistry (SP method).</p><p><b>RESULTS</b>The positive expression rate of CD44v3 in NSCLC was 57.7% (SP method) and 71.2% (RT-PCR), respectively. The positive rate of CD44v3 in squamous cell carcinoma was significantly higher than that in adenocarcinoma (P < 0.01). Higher expression of CD44v3 was demonstrated in poor differentiation compared with moderate and well differentiation (P < 0.05). The expression of CD44v3 was much higher in patients with lymph node metastasis than that in those without lymph node metastasis (P < 0.05). The expression rate of CD44v3 was remarkably higher in stage III than that in stage I-II. Multi-variate Logistic analysis showed the expression of CD44v3 and p-TNM stage were significantly prognostic factors (P < 0.05).</p><p><b>CONCLUSIONS</b>Overexpression of CD44v3 is very common in lung cancer tissues. Detection of CD44v3 expression may be helpful to predict the prognosis of lung cancer patients.</p>
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Objective To study the 4 977 bp deletion of mitochondrial DNA in lung cancer, paraneoplastic tissue and normal lung tissue from non-lung cancer subjects and its significance in the development of cancer. Methods Lung cancer tissues and paraneoplastic tissues from 37 non-small lung cancer patients, and normal lung tissues from 20 patients without lung cancer were analyzed by long PCR technique. Results Mitochondrial DNA 4 977 bp deletion was detected in 54.1%(20/37) of lung cancer tissues, 59.5%(22/37) of paraneoplastic tissues and 30.0%(6/30) of normal lung tissues. The correlation between 4 977 bp deletion and age, smoking was present in our data. Conclusion Mitochondrial DNA 4 977 bp deletion, which may reflect the environmental and genetic influences during tumor progression, is not specific to lung cancer and unlikely to play an important role in carcinogenesis.
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Objective To investigate the variations of mtDNA from high and low metastatic mouse hepatocarcinoma cell sublines Hca-F and Hca-P, and the relationship between mutations of mtDNA and carcinogenesis. Methods The variations of D-loop, ND3 and tRNA Met+Glu+Ile gene fragments of mtDNA from Hca-F and Hca-P cells were analyzed by PCR-RFLP and sequencing techniques. Results No amplification fragment length polymorphism and restriction fragment length polymorphism were observed in tRNA Met+Glu+Ile , ND3 and D-loop of mtDNA from the 2 cell sublines. Sequence difference between these 2 cell sublines were found in mtDNA D-loop region by sequencing. Conclusions Genetic alteration of mtDNA non-coding region in tumors, which may reflect the environmental and genetic influences operative during tumor progression, can be linked to their tumorigenic phenotype.
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objective To study the expression of CD44v3 and CD44v6 and its relationship with lymph node metastasis in non small cell lung cancer (NSCLC). Methods Specimens (lung tissues) from 52 c ases of NSCLS and 12 normal lung tissue were used to detect the expression of CD 44v3 and CD44v6 by immunohistochemical method (SP method) and flow cytometry, co rrelation was analysed between the expression of CD44v3 or CD44v6 a nd lymph node metastasis of the lung cancer. Results CD44v3 and CD44v6 were not, or weakly expressed in all normal lung tissues from 12 cases. In contrast, the expression levels of CD44v3 and CD44v6 were obviously higher in lung cancer than that in normal tissue(P<0.05). The expression of CD44v 3 and CD44v6 were much higher in patients with lymph node metastasis than those without lymph node metastasis(P<0.05). Conclusion ① CD44v3 and CD44v6 are expressed with different degree in NSCLC. ②There is a close rel ationship between high expression of CD44v6 and lymph node metastasis, and CD44v 6 may be a co-marker for predicting the potentiality of lymph node metastasis i n lung cancer.
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Objective To evaluate the efficacy of endoscopic injection hemostasis and sequential application of sandostatin in treatment of Dieulafoy's lesion. Methods After diagnosis of Dieulafoy's lesion confirmed, endoscopic injection hemostasis(EIH) together with mixture hypertonic saline and epinephrine(HSE) was performed, and then sandostatin was given consecutively for 7 days. The control group included the patients who were not given sandostatin or given just for 1 to 2 days. Results The rates of recurrent bleeding and transfer into surgery in sandostatin group were significantly lower than those in control group,(12.5% and 6.3% versus 53.8% and 46.2% respectively, P