A typical Say-Barber-Biesecker/Young-Simpson syndrome caused by heterozygous mutation of KAT6B gene / 中华实用儿科临床杂志

A patient with global developmental delay and facial abnormality treated in Hunan Maternal and Child Health Care Hospital in September 2018 was diagnosed as a typical Say-Barber-Biesecker/Young-Simpson syndrome (SBBYSS)accompanied with comprehensive clinical manifestations and genetic testing was carried out.The patient carries a heterozygous synonymous mutation of KAT6B gene (NM_012330.3)c.3147G>A (p.P1049P), thus leading to the formation of a new cleavage site (receptor) and forming a new truncated protein.In Chinese, this is the second typical SBBYSS that has been identified and the first prenatal genetic diagnosis has been performed.This study has broadened the mutation spectrum of SBBYSS caused by the mutation of KAT6B gene in Chinese population.

Evaluation of lactase activity in probiotic cultures containing inulin rich plant extracts as prebiotic sources

@#Aims: The present study deals with the isolation and identification of lactase producing probiotic strains from camel and sheep milk, determination of the enzyme activity by β-galactosidase assay (Miller Assay) in the presence of garlic, peas, onion and leeks extracts containing inulin as a prebiotic component. Methodology and results: The two isolates were screened for lactase producing ability to degrade lactose on MRS agar at 37 °C. These were identified as Lactococcus lactis from camel (Marecha) milk and Lactobacillus casei from sheep (Kajli) milk through morphological and biochemical tests using MRS medium. The optimized pH and temperature of both strains were 6 and 35 °C, respectively. Among the three concentrations used (0.2%, 0.4%, 0.8%), the optimal concentration of inulin rich onion and leeks extracts was 0.8% for maximum growth of L. casei and of the peas extract for L. lactis growth. 0.2% garlic extract was more effective prebiotic source for L. lactis growth. 0.8% commercial inulin used as a positive control was less effective as compared to plant extracts used in the study. With o-nitrophenyl-β-Dgalactoside) used as a substrate in the enzyme assay, maximum lactase activity obtained with 0.8% concentration of garlic extract is 7.10 Miller Units as compared to the peas extract with 6.17 Miller Units from L. lactis. Lactobacillus casei has produced more lactase, 6.85 Miller units with onion extract than with leeks extract, 6.43 Miller Units. Pure commercial inulin used as a control has given maximum enzyme activity as 9.14 Miller Units at 0.2% concentration. Conclusion, significance and impact of the study: It is concluded that the extracted prebiotic may enhance lactase activity of the probiotics to supplement the development of food products for lactose intolerant patients.

Preparation of human pneumococcal reference serum BW09 and assignment of IgG antibody concen-trations for 24 serotypes / 中华微生物学和免疫学杂志

Objective To prepare human pneumococcal reference serum and assign IgG antibody concentrations for its 24 serotypes. Methods Fifty healthy male and non-pregnant female volunteers were vaccinated once with 23-valent pneumococcal polysaccharide vaccine. Plasma samples were collected follow-ing immunization and used to prepare reference serum BW09. IgG antibody concentrations of BW09 against the capsular polysaccharides of 24 serotypes (1, 2, 3, 4, 5, 6A, 6B, 7F, 8, 9N, 9V, 10A, 11A, 12F, 14, 15B, 17F, 18C, 19A, 19F, 20, 22F, 23F, 33F) were assigned by WHO recommended standardized Pn PS ELISA using 09CS (supplied by Lanzhou Institute of Biological Products Co. , Ltd) as a reference se-rum. Finally, 09CS, two quality control sera and eight serum samples had concentrations reassigned for 24 pneumococcal serotypes using BW09 as the reference, and the results were compared with those using 09CS as the reference serum. Results Glycerol-contained human pneumococcal reference serum BW09 was pre-pared and the IgG antibody concentrations for its 24 serotypes were assigned. 09CS had concentrations reas-signed for 24 pneumococcal serotypes using BW09 as the reference, and the newly assigned concentrations were similar to the original values (with percentage error less than 10％ in all serotypes). IgG antibodies against capsular polysaccharides of 24 serotypes of two quality control sera and eight serum samples were as-signed by BW09 and 09CS, and the results showed a linear correlation. Conclusions The human pneumo-coccal reference serum BW09 was successfully prepared and IgG antibody concentrations for its 24 serotypes were accurately assigned.

Efeitos da Apresentação e Retirada de Reforçadores sobre a Correspondência Verbal / Effects of Presenting and Removing Reinforcers on Verbal Correspondence

Resumo A presente pesquisa teve por objetivo investigar o efeito da apresentação e da retirada de reforçadores sobre a correspondência verbal. Oito crianças brincaram individualmente e, em seguida, relataram com quais brinquedos haviam brincado. Após linha de base, os relatos de "não brincar", feitos ora individualmente, ora em grupo, foram punidos (perda de fichas permutáveis por brinquedos). Em seguida, os participantes foram divididos em dois grupos, que passaram por um de dois procedimentos: (1) punição negativa de relatos não correspondentes; ou (2) reforçamento positivo de relatos correspondentes. A punição negativa somente de relatos de "não brincar" produziu um aumento no número de relatos não correspondentes de brincar para quatro crianças e, posteriormente, dificultou o restabelecimento da correspondência, seja sob uma punição negativa, seja sob reforçamento positivo.

Abstract The present study aimed to investigate the effect of presentation and withdrawal of reinforcers on verbal correspondence. Eight children individually played with toys, and then reported with what toys they had played. After baseline, reports of "no play", sometimes made individually, sometimes in groups, were punished (loss of tokens exchangeable for toys). Next, the participants were divided into two groups, whose participants underwent one of two procedures: (1) negative punishment of not corresponding reports; or (2) positive reinforcement of corresponding reports. The negative punishment of reports of "no play" produced an increase in the number of non-correspondent "play" reports for four children, and subsequently hindered the recovery of correspondence, either by negative punishment or by positive reinforcement.

El psicoanálisis y la poesía... china / Psychoanalysis and poetry... china

Bajo el título de "El psicoanálisis y la poesía… china" me propongo interrogar cual es el saldo que podría extraerse del diálogo entre estos dos campos disímiles, al menos en apariencia. La poesía y la literatura han tenido un valor destacable y fundamental en la obra de Freud, aún más en la de Lacan; aunque en formas diversas. En ese sentido es fundamental realizar las distinciones pertinentes en ambos autores, por lo que he dividido el escrito en dos momentos; por un lado el valor que tiene para Lacan la poesía china hacia el final de su enseñanza. Y en una segunda instancia me abocaré a indagar que uso hace Freud de la poesía. Para poder avanzar en los dos ejes que me he propuesto, recurriré a dos autores centrales para pensar la poesía, Octavio Paz y Francois Cheng. Ambos autores interesados por la poesía china taoísta que será el pivote central de esta investigación.

Under the title \"Psychoanalysis and (Chinese) poetry\" I propose to examine what is the balance that could be extracted from the dialogue between these two dissimilar fields, at least in appearance. Poetry and literature have had a remarkable and fundamental value in Freud's work, even in Lacan' sone; although in different ways. In that regard it is essential make relevant distinctions in both authors, so I divided the writing in two parts; on one hand the value that Chine se poetry has for Lacan towards the end of his teaching. And in a second dinstance I'll come to inquire what is the use Freud makes poetry. In order to advance the two axes that I have proposed, I shall use two central authors to thnk poetry, Octavio Paz and Francois Cheng. Both authors interested in the Taoist Chines epoetry will be the kingpin of this research.

Identifying the KAT6B Mutation via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three Generations of a Family

Diagnostic exome sequencing (DES) is a powerful tool to analyze the pathogenic variants leading to development delay (DD) and intellectual disability (ID). Recently, heterozygous de novo mutation of the histone acetyltransferase encoding gene KAT6B has been recognized as causing a syndrome with congenital anomalies and intellectual disability, namely Say-Barber-Biesecker-Young-Simpson (SBBYS) syndrome. Here we report a case of SBBYS syndrome in a third generation Korean family affected with a missense mutation in KAT6B, c.2292C>T p.(His767Tyr) identified by DES. This is the first confirmed familial inherited mutation of the KAT6B reported worldwide. Our case emphasizes again the importance of basic physical examination and taking a family history. Furthermore, advances in genetic diagnostic tools are becoming key to identifying the etiology of DD and ID. This allows a physiatrist to predict the disease's clinical evolution with relative certainty, and offer an appropriate rehabilitation plan for patients.

Comparison and analysis of two detection measures for anti-double stranded DNA antibody / 国际检验医学杂志

Objective To investigate the characteristics and clinical application value of anti-double stranded DNA antibody de-tected by Crithidia indirect immunofluorescence assay method and enzyme linked immunosorbent assay method.Methods Eighty-five patients with systemic lupus erythematosus,20 disease controls and 75 healthy controls were selected.The serum anti-double stranded DNA antibody was detected simultaneously by the methods of Crithidia indirect immunofluorescence assay and enzyme linked immunosorbent assay and their diagnostic efficacies for detection were compared.Results For each method the positive rate in the systemic lupus erythematosus group was significantly higher than that in the disease control group and healthy control group. The difference had statistical significance (P <0.05).The positive rates of Crithidia indirect immunofluorescence assay and enzyme linked immunosorbent assay in the systemic lupus erythematosus group were 72.94% and 88.24% respectively,and the positive predictive value of enzyme linked immunosorbent assay is lower(P <0.05).Meanwhile the anti-double stranded DNA antibody con-centrations detected by enzyme linked immunosorbent assay method showed statistically significant difference among the active sys-temic lupus erythematosus group,the stable systemic lupus erythematosus group and the control group (P <0.05 )and presented linear trend.Conclusion Using Crithidia indirect immunofluorescence assay method to detect anti-double stranded DNA antibody for the systemic lupus erythematosus group has high specificity and is helpful for the diagnosis of systemic lupus erythematosus. Enzyme linked immunosorbent assay can be used to detect anti-double stranded DNA antibody concentration quantitatively,which is linearly related with systemic lupus erythematosus activity and the method is of high sensitivity,which can effectively screen the pa-tients with systemic lupus erythematosus.

Clinical application and evaluation of 4 kinds of siphilis serological detection method / 国际检验医学杂志

Objective To compare the value of four kinds of commonly used serological detection method for detecting Trepone-ma Pallidum,i.e.,Treponema Pallidum enzyme-linked immunosorbent assay(TP-ELISA),Treponema pallidum particle agglutina-tion test(TPPA),Treponema Pallidum rapid plasma reagin test(RPR)and Treponema Pallidum antibody detection(TP-AD,emul-sion method).Methods 5 870 specimens from outpatients and inpatients were screened by TP-ELISA.121 cases of detected posi-tive specimen were simultaneously detected by TP-AD,TPPA and RPR.Then the detection results were performed the comparative analysis.Results Among 5 870 specimens,121 cases were positive by ELISA,the detection rate was 2.06%.Among 121 positive cases,119 cases were positive by TPPA,the conformity degree was 98.34%,49 cases were positive by RPR,the conformity degree was 40.41%,113 cases were positive by TP-AD,the conformity degree was 93.38%.With the TPPA results as the standard,there was no statistically significant difference between TPPA and TP-AD(P >0.05),but there was statistically significant difference be-tween TPPA and RPR(P <0.01).Conclusion The four kinds of method have their applicability.ELISA d has good specificity and high sensitivity,and is simple to operate and suitable for the physical examination of large amount of pregnant women,parturients and normal people.TPPA has good specificity and high accuracy,is suitable for definite diagnosis.RPR is suitable for the monito-ring and the curative effect observation in the patients with the active stage of siphilis.Compared with ELISA,TP-AD has slightly less sensitivity,but good specificity and can be used for screening without specific instrument.

Tagetes erecta Linn. and its mosquitocidal potency against Culex quinquefasciatus

<p><b>OBJECTIVE</b>To investigate mosquitocidal effects of ethanolic extract of flowers of Tagetes erecta (T. erecta) and its chloroform and petroleum ether soluble fractions against the larvae of Culex quinquefasciatus (Cx. quinquefasciatus).</p><p><b>METHODS</b>The fresh flowers of T. erecta were extracted in cold with ethanol (5.0 L) and after concentration, the ethanol extract was fractionated with chloroform and petroleum ether to afford a brownish syrupy suspension of ethanol extract (50.0 g), petroleum ether soluble fraction (18.6 g) and chloroform soluble fraction (23.8 g). The larvicidal effect of ethanol extract and their solvent fractions were determined by the standard procedure of WHO against different instars of Cx. quinquefasciatus.</p><p><b>RESULTS</b>Among the tested samples the chloroform soluble fractions showed the highest toxicity and consequently, the lowest LC50 values (14.14 µg/mL, 17.06 µg/mL, 36.88 µg/mL and 75.48 µg/mL) for all the instars larvae of Cx. quinquefasciatus. The larvae showed comparative tolerance in the course of increasing age and time.</p><p><b>CONCLUSIONS</b>It can be concluded that the flowers of T. erecta are very effective natural larvicide and could be useful against Cx. quinquefasciatus.</p>

Correspondência verbal: uma revisão da literatura / Verbal correspondence: an overview

Correspondência verbal pode ser definida como a relação entre o comportamento verbal e o nãoverbal de um indivíduo. As pesquisas em correspondência verbal têm se utilizado de treinos de correspondência, uma técnica para estabelecer, manter, diminuir ou extinguir comportamentos não-verbais através do controle do comportamento verbal, em três fases: linha de base, reforçamento da verbalização e reforçamento da correspondência entre o comportamento verbal e o não-verbal. Esses treinos usam-se de três sequências diferentes: dizer-fazer, fazer-dizer e dizer-fazer- dizer. Este artigo faz uma revisão das pesquisas na área de correspondência verbal nestas três diferentes sequências. Ressalta, ainda, estudos atuais, que se preocuparam em descrever o fenômeno da correspondência e, portanto, não utilizaram metodologia experimental e, por consequência, não realizaram treino de correspondência e sim observaram a emergência da correspondência verbal natural.

Verbal correspondence can be defined as the relationship between an individual’s verbal and nonverbal behavior. Research into verbal correspondence has used correspondence training, a technique that establishes keeps, diminishes or extinguishes non-verbal behaviors through the control of verbal behavior, in three phases: baseline, reinforcement of verbal behavior and reinforcement of the correspondence between verbal and non-verbal behaviors. These training sessions use three different sequences: say-do, do-say and say-do-say. This article reviews the research in the area of verbal correspondence in these three different sequences. Current studies are highlighted that are concerned with describing the phenomenon of correspondence and which, therefore, did not use experimental methodology and, consequently, did not perform correspondence training, but rather observed the emergence of natural verbal correspondence.