【Objective】 To investigate the clinical features and gene analysis of one pedigree with multiple endocrine neoplasia type 2A （MEN2A） so as to clarify the diagnosis and classification of the disease， guide treatment and prevention， and improve prognosis. 【Methods】 The clinical data of a 36-member MEN2A family， including 6 probands， with medullary thyroid carcinoma， were investigated， and the peripheral blood genomic DNA of 28 family members （blood sample of one proband was not collected） was extracted. PCR amplification was performed on exons 8， 10， 11， 13， 14， 15 and 16 of the RET gene， and the products were directly sequenced. 【Results】 Review of the medical history showed that two probands with medullary thyroid carcinoma were accompanied with hyperparathyroidism， and one family member had pheochromocytoma. The RET gene mutation test confirmed that 13 family members， consisting of 5 probands and 8 family members， had the RET proto-oncogene exon 10 missense mutation. The heterozygous missense had mutation c.1852T>A， leading to the conversion of cysteine （TGC） at position 618 to serine （AGC） （Cys618Ser）. All subjects carrying RET gene Cys618Ser mutation had abnormal thyroid ultrasound change， accompanied with elevated calcitonin levels. Subjects carrying wild type of RET gene had normal calcitonin levels. The family was finally diagnosed with MEN2A by RET gene detection. 【Conclusion】 RET gene detection plays key role in the diagnosis and treatment of patients with MEN2A family and has guiding value in the follow-up and prognosis of asymptomatic carriers. There is a positive correlation between calcitonin level and the RET protooncogene mutation Cys618Ser. Patients suspected of MEN2A should be screened in time.

Lactic acid bacteria (LAB) are a representative probiotic. As the dominant flora in the human intestinal tract, LAB can regulate the balance of human intestinal flora and improve host health. The purpose of this study was to isolate and screen LAB that are well suited to the intestinal characteristics of the Chinese population, with excellent probiotics and high antibacterial activity. After 16S ribosomal RNA (rRNA) homology and phylogenetic tree analysis, potential probiotics were tested for their antibacterial activity, resistance to artificial gastrointestinal fluid and drugs, surface hydrophobicity, and safety. Three strains of LAB with acid resistance, bile salt resistance, epithelial cell adhesion, and no multidrug resistance were selected:

OBJECTIVE： To establish a method for the determination of piperitylmagnolol in the incubation system of liver microsomes， and to investigate the metabolic characteristics of it in different species of liver microsomes. METHODS： The piperitylmagnolol were respectively dissolved in NADPH activated liver microsome incubation systems of human， rat， mouse， monkey and dog， and then incubated in water at 37 ℃. The reaction was terminated with methanol at 0， 2， 5， 10， 15， 20， 30， 45 and 60 minutes of incubation， respectively. Using magnolol as internal standard， UPLC-MS/MS method was used to determine the concentration of piperitylmagnolol in the incubation system. The determination was performed on Acquity UPLCTM CSH C18 column with mobile phase consisted of 0.1％ formic acid-methanol （gradient elution） at the flow rate of 0.3 mL/min. The column temperature was set at 30 ℃， and the sample size was 2 μL. The ion source was electrospray ion source， and the positive ion scanning was carried out in the multiple reaction monitoring mode. The ion pairs used for quantitative analysis were m/z 401.2→331.1 （piperitylmagnolol） and m/z 265.1→247.0 （internal standard）， respectively. Using the concentration of piperitylmagnolol at 0 min of incubation as a reference， the residual percentage， metabolism half-life in vitro （t1/2） and intrinsic clearance （CLint） were calculated for different incubation systems. The metabolic pathway of piperitylmagnolol was studied by chemical inhibitor method. Under the above chromatographic conditions， the metabolites in vitro were preliminarily analyzed by first-order full scanning and positive ion detection. RESULTS： The linear range of piperitylmagnolol was 3.91-500.00 ng/mL. The limit of quantitation was 3.91 ng/mL. RSDs of intra-day and inter-day were less than 10％. The accuracy ranged 87.40％-103.75％. Matrix effect didn’t affect the determination of the substance to be measured. The piperitylmagnolol was metabolized significantly in human， rat， mouse and dog liver microsomes， but not in monkey liver microsomes. After incubating for 30 min， residual percentage of piperitylmagnolol kept stable in different species of liver microsomes. The t1/2 of piperitylmagnolol were 12.07， 17.68， 17.59， 216.56 and 61.88 min in human， rat， mouse， monkey and dog liver microsomes； CLint were 0.115， 0.078， 0.079， 0.006， 0.022 mL/（min·mg）， respectively. Inhibitory rates of CYP2A6， CYP2D6， CYP2C19， CYP3A4， CYP2C9， CYP2E1 and CYP1A2 to compound metabolism were 55.76％， 93.94％， 96.01％， 93.69％， 71.81％， 23.25％， 28.04％， respectively. Quasi-molecular ion peaks of the two main metabolites of piperitylmagnolol in human liver microsomes were m/z 441.2（[M+Na]+） and m/z 337.2（[M+H]+）， respectively. CONCLUSIONS： Established UPLC-MS/MS method is simple， rapid and specific， and can be used for the determination of piperitylmagnolol concentration in the incubation system of liver microsomes and pharmacokinetic study. The metabolic characteristics of the compound are different among liver microsomes of human， rat， mouse， monkey and dog. Its metabolism process may be associated with CYP2D6， CYP2C19， CYP3A4， CYP2C9， etc.

Bacillus Calmette- Guérin(BCG) is still an effective way to prevent tuberculosis, but BCG vaccination reaction has various forms, mainly including lymphadenitis associated with BCG vaccination and disseminated BCG disease, the latter is relatively rare, lymphadenitis associated with BCG vaccination is relatively common, it is unclear that diagnosis and treatment, especially the timing of treatment and the choice of treatment methods, and lack of authoritative guidelines.Through further understanding of the pathogenesis, risk factors, clinical classification and diagnosis of this disease, clinicians can choose the optimized treatment plan for this disease.At the same time, the development and use of new vaccines are expected to reduce the occurrence of this disease.

Objective To report secondary paroxysmal sympathetic hyperactivity in a patient with tuberculous meningitis and to review the diagnostic criteria, clinical features, possible pathogenesis and management of this condition. Methods The clinical data of a case with paroxysmal sympathetic hyperactivity secondary to tuberculous meningitis was retrospectively analyzed and related literature was reviewed. Results A 1-year-old boy was admitted to our institute with a history of lethargy and vomiting for 3 days. Neurological examination revealed abnormalities. A lumbar puncture revealed the evidence of meningitis. PPD test, T-SPOT.TB and radiological examination revealed tuberculous meningitis. Later, when stayed in the intensive care unit, he developed paroxysmal hypertension, sinus tachycardia, tachypnea, dystonia, and high fever. These episodes improved after administration of propranolol, benzodiazepines and artane. Conclusions Paroxysmal sympathetic hyperactivity is a rare manifestation of tuberculous meningitis, early recognition is very important for avoid misdiagnosis and overtreatment.

Objective To investigate the prevalence of year-round respiratory viral infection in children with lower respiratory tract infection (LRTI), and the relationship between respiratory viral infection and allergen sensitization in exacerbating asthma. Methods A total of 231 hospitalized children with acute LRTI were investigated from May 2013 to April 2014. The 5 most common respiratory viruses were isolated from nasopharyngeal aspirate using multiplex reverse transcription-polymerase chain reaction, including respiratory syncytial virus (RSV), adenovirus (AV), parainfluenza virus (PIV), influenza virus (IFV) and rhinovirus (RV). Atopic sensitization was defined if more than 1 serum specific immunoglobulin E level measured using immunofluorescence experiment was over 0.35 IU/mL. Results RSV was the most common pathogen of bronchiolitis in hospitalized children through the year. RV or IFV infections were more prevalent in asthma exacerbations compared to other LRTIs. AV was more likely to cause pneumonia. RV and IFV were associated with asthma exacerbations in children with atopic sensitization, but not in nonatopic children. Conclusion RV and IFV are associated with hospitalization for asthma exacerbation in children with atopic sensitization.

Objective To identify the risk factors for severe acute lower respiratory infections (ALRI) in children and to provide scientific basis for prevention and treatment of ALRI. Methods Several databases including Pubmed, Databases-Medline (Ovid), Embase, CINAHL and Global Health Library, CNKI, VIP and Wanfang Date were searched (1990.1-2014.12) for references. All selected studies were about risk factors of ALRI in children. The screening and quality evalua? tion of the literature data was conducted independently by two reviewers according to the inclusion and exclusion criteria. Stata 11.0 software was used for Meta-analysis. Results Meta-analysis of 27 included literature showed that seven risk fac?tors were significantly associated with severe ALRI:low birth weight, lack of exclusive breastfeeding, crowded household, ex?posure to indoor air pollution, malnutrition, living in a house with smokers or smoking in pregnant and HIV-exposed unin?fected condition. Conclusion The above seven risk factors play the important role in the development of ALRI in children. Furthermore, it emphasizes the need for further studies investigating other potential risk factors to decrease the possibility of childhood ALRI.

Objective To evaluate the clinical efficacy of tissue-type plasminogen activator (tPA) treatment of children with plastic bronchitis.Methods The study retrospectively reviewed the clinical data of the children with plastic bronchitis who were admitted to Tianjin Children's Hospital from September 2013 to January 2015 and were treated with tissue-type plasminogen activator.This study analyzed the effect and safety of tPA treatment,including clinical and radiological changes and follow-ups.Results A lot of plastic secretions were safely removed from the bronchial tubes in all children and clinical manifestations including breathing,body temperature,transcutaneous oxygen saturation and image changes were significantly improved.Conclusions Bronchoscopy is an effective way to treat plastic bronchitis,but with the use of tPA a better clinical efficacy could be achieved.The method is safe and effective and should be applied early in the patients in order to prevent the occurrence of severe airway obstruction complications.

BACKGROUNDThe evaluation of retinal image quality in cataract eyes has gained importance and the clinical modulation transfer functions (MTF) can obtained by aberrometer and double pass (DP) system. This study aimed to compare MTF derived from a ray tracing aberrometer and a DP system in early cataractous and normal eyes.

METHODSThere were 128 subjects with 61 control eyes and 67 eyes with early cataract defined according to the Lens Opacities Classification System III. A laser ray-tracing wavefront aberrometer (iTrace) and a double pass (DP) system (OQAS) assessed ocular MTF for 6.0 mm pupil diameters following dilation. Areas under the MTF (AUMTF) and their correlations were analyzed. Stepwise multiple regression analysis assessed factors affecting the differences between iTrace- and OQAS-derived AUMTF for the early cataract group.

RESULTSFor both early cataract and control groups, iTrace-derived MTFs were higher than OQAS-derived MTFs across a range of spatial frequencies (P < 0.01). No significant difference between the two groups occurred for iTrace-derived AUMTF, but the early cataract group had significantly smaller OQAS-derived AUMTF than did the control group (P < 0.01). AUMTF determined from both the techniques demonstrated significant correlations with nuclear opacities, higher-order aberrations (HOAs), visual acuity, and contrast sensitivity functions, while the OQAS-derived AUMTF also demonstrated significant correlations with age and cortical opacity grade. The factors significantly affecting the difference between iTrace and OQAS AUMTF were root-mean-squared HOAs (standardized beta coefficient = -0.63, P < 0.01) and age (standardized beta coefficient = 0.26, P < 0.01).

CONCLUSIONSMTFs determined from a iTrace and a DP system (OQAS) differ significantly in early cataractous and normal subjects. Correlations with visual performance were higher for the DP system. OQAS-derived MTF may be useful as an indicator of visual performance in early cataract eyes.

Aberrometry ; methods ; Adult ; Aged ; Cataract ; physiopathology ; Female ; Humans ; Male ; Middle Aged ; Visual Acuity ; physiology

Objective To investigate the clinical efficacy and safety of intravenous immunoglobulin and interferon in the treatment of hand foot and mouth disease complicated with viral encephalitis .Methods 80 cases of hand foot and mouth disease complicated with viral encephalitis were randomly divided into the three groups according to the random number table .27 cases in the control group were given comprehensive symptomatic treatment ,27 cases in the study group 1 were given gamma globulin ,and 26 cases in the study group 2 were given interferon .The clinical efficacy,improvement of disease ,incidence of adverse reactions of the three groups were compared .Results Defer-vescence time ,seizure control time ,time of skin rash subsided ,time of psychiatric symptoms relieved and the average hospitalization time in the study 1 group were (3.65 ±0.28)d,(4.04 ±0.33)d,(3.86 ±0.27)d,(5.83 ±0.36)d and (7.53 ±0.83)d,which were significantly less than those in the control group (t=8.43,8.58,9.15,9.80,8.96, all P<0.05).Those in the study 2 group were (3.92 ±0.29)d,(4.21 ±0.32)d,(4.27 ±0.30)d,(6.32 ±0.43)d and (8.10 ±0.72)d,which were significantly less than the control group (t=7.99,8.17,8.54,9.18,8.55,all P<0.05);however,there were no significant differences between the study 1 group and the study 2 group(t=1.12, 2.04,1.67,1.38,2.21,all P>0.05).The incidence rate of adverse reaction among the three groups showed no sta-tistically significant difference (χ2 =2.17,P>0.05).Conclusion Intravenous immunoglobulin and interferon have significant effect in the treatment of hand foot mouth disease complicated with viral encephalitis , which can quickly improve symptoms ,shorten treatment time and have high safety and good clinical application value .