The Etiological Study of Three Hunter Syndrome Families in Southern China / 中山大学学报(医学科学版)

ObjectiveTo reveal the molecular pathogenesis of Hunter syndrome in three families in southern China and to clarify the correlation between phenotype and genotype， so as to lay a foundation for future prenatal or preimplantation genetic diagnosis. MethodsOn the basis of initial clinical diagnosis and pedigree analysis， qualitative detection of glycosaminoglycans in urine was performed first， and then anticoagulant blood samples were collected from the children and their relatives. DNA was extracted and the IDS gene sequence was analyzed by PCR and Sanger sequencing. Various methods such as RT-PCR and bioinformatics analysis were used to identify the pathogenicity of the new variants. ResultsThe urine test results of the patients in the three families were all strongly positive（++）. Probands were all male， with hemizygous mutations in IDS gene from their mothers， and the mutation sites were c.615_622delCATACAGT， c.847_848delGT and IVS7 ds+1 G>A， respectively. The cross-species conservation analysis showed that the amino acid of IDS gene mutation site was highly conserved during species evolution. Compared with the normal protein， mutant proteins exhibited significant differences in the predicted results of advanced structure. The variants identified in the three families were classified as pathogenic by ACMG criteria. ConclusionsThe three probands were diagnosed with Hunter syndrome. The c.615_622del（p.Il206Valfs*18）， c.847_848del（p.Val283Alafs*57） and IVS7 ds+1 G>A （p.G336Dfs*12） of IDS gene are all novel pathogenic mutations， which are the underlying causes of morbidity in children. This study has further enriched the mutation spectrum of IDS gene.

Effect of immediate dentin sealing, bonding technique, and restorative material on the bond strength of indirect restorations / Efeito do selamento imediato da dentina, técnica de união e material restaurador na resistência de união de restaurações indiretas

Objective: The objective of this study was to evaluate the effect of immediate dentin sealing, bonding technique, and restorative material on the dentin bond strength of an indirect composite (Solidex) and a resin nanoceramic CAD/CAM block (LAVA Ultimate). Material and Methods: A total of 120 periodontally extracted human molar teeth were abraded horizontally and divided into two groups according to dentin sealing procedures (delayed dentin sealing [DDS] and immediate dentin sealing [IDS]). Next, all teeth were attached to a simulated pulpal pressure mechanism. The specimens were removed from the mechanism after a week. Teeth were subdivided into three groups based on the bonding technique and the type of cement used (Acid-etching + Single Bond Universal + RelyX Ultimate, Single Bond Universal + RelyX Ultimate, RelyX Unicem). Each subgroup was further divided into 2 subgroups according to the type of restorative material used (Solidex [n = 10], Lava Ultimate CAD/ CAM restorative material [n = 10]). Sixty cylindrical samples prepared using both the restorative materials were bonded to the tooth surface according to their group's bonding procedures. All specimens were embedded in chemically cured acrylic resin for shear bond strength test. The shear bond strength (SBS) of the specimens was determined by a universal testing machine with a headspeed of 0.5 mm/min. Results: Three-way ANOVA, independent-sample t test and post hoc Tukey comparison tests (α=0.05) were performed on all data. There were significant differences between the groups. It was found that IDS process significantly increased bond strength in all groups. When dentin bond strengths of tested luting cements were compared, the highest bond strength values were recorded in groups in which the specimens were luted with RelyX Ultimate cement using etch-and-rinse technique. The lowest bond strength values were obtained from groups that used RelyX Unicem as the luting cement. Conclusion: IDS improves bond strength of indirect restorations. Moreover, bonding techniques may have critical effects on the dentin bond strength of indirect restorative materials. The cements' specific affinity levels to both restorative materials and dentin could be considered as the reason of the situation.(AU)

Objetivo: O objetivo deste estudo foi avaliar o efeito do selamento imediato da dentina, da técnica adesiva e do material restaurador na resistência de união à dentina de um compósito indireto (Solidex) e um bloco CAD / CAM de resina nanocerâmica (LAVA Ultimate). Material e Métodos: Um total de 120 dentes molares humanos extraídos por razões periodontais foram desgastados horizontalmente e divididos em dois grupos de acordo com os procedimentos de selamento dentinário (vedação tardia da dentina [DDS] e vedação imediata da dentina [IDS]). Em seguida, todos os dentes foram conectados a um equipamento de pressão pulpar simulada. As amostras foram removidas do equipamento após uma semana. Os dentes foram subdivididos em três grupos, com base na técnica de união e no tipo de cimento utilizado (ataque ácido + Single Bond Universal + RelyX Ultimate, Single Bond Universal + RelyX Ultimate, RelyX Unicem). Cada subgrupo foi então dividido em 2 subgrupos de acordo com o tipo de material restaurador utilizado (Solidex [n = 10], material restaurador Lava Ultimate CAD / CAM [n = 10]). Sessenta amostras cilíndricas preparadas com os dois materiais restauradores foram coladas na superfície do dente de acordo com os procedimentos de adesão do grupo. Todas as amostras foram embebidas em resina acrílica quimicamente ativada para o teste de resistência ao cisalhamento. A resistência de união ao cisalhamento (SBS) das amostras foi determinada por uma máquina de teste universal com uma velocidade de 0,5 mm / min. Resultados: ANOVA de três fatores, teste t de amostra independente e testes de comparação post hoc de Tukey (α = 0,05) foram realizados em todos os dados. Houve diferenças significativas entre os grupos. Verificou-se que o processo IDS aumentou significativamente a força de união em todos os grupos. Quando as forças de união da dentina dos cimentos testados foram comparadas, os valores mais altos de força de união foram registrados nos grupos em que as amostras foram cimentadas com cimento RelyX Ultimate usando a técnica "condicione e lave". Os menores valores de resistência de união foram obtidos de grupos que usaram como cimento o RelyX Unicem. Conclusão: O IDS melhora a força de união das restaurações indiretas. Além disso, as técnicas de união podem ter efeitos críticos na resistência da união à dentina de materiais restauradores indiretos. Os níveis de afinidade específicos dos cimentos para materiais restauradores e dentina podem ser considerados o motivo da situação.(AU)

Comparison of Truviewscope and C-Mac Video Laryngoscope with the Conventional Macintosh Laryngoscope in Improving the Glottic View during Endotracheal Intubation

Background: In anesthetic practice, the introduction of multiple novel laryngoscopes has simplified visualization of the vocal cords and has reduced the complications arising due to difficult or failed tracheal intubation Both Truview scope and C-Mac video laryngoscope have been reported to provide a comparable or superior glottic view on comparison with conventional Macintosh laryngoscope Materials and methods: A randomized controlled study was conducted in 100 subjects scheduled for elective surgery equally divided into 2 groups Conventional Macintosh laryngoscopy was done initially in all subjects enrolled for the study For the Glottic view, One Group (n=50) underwent Truview laryngoscopy while the other (n=50) underwent C-Mac video laryngoscopy Results: The improvement in glottic view from original MCL (Modified Cormack & Lehane) grading obtained from Macintosh laryngoscope was 40% (n=23) in Truview compared to 46% (n=23) in CMac video laryngoscope while downgrading of view was observed in 10% (n=5) in group– T compared to none in C-Mac video laryngoscope There were no statistically significant difference in Intubation Difficulty Scale (IDS) scores between the groups (P = 0072) The mean duration of time R Vimal, A Sivanoli Comparison of Truviewscope and C-Mac Video Laryngoscope with the Conventional Macintosh Laryngoscope in Improving the Glottic View during Endotracheal Intubation IAIM, 2018; 5(12): 125-133 Page 126 for endotracheal intubation with C-Mac video laryngoscope (2310 seconds) was significantly shorter compared with Truview laryngoscope (3126 seconds) Conclusions: There was an improvement in view of the glottis in both Truview and C-Mac video laryngoscope from the initial Macintosh laryngoscope view But C-Mac video laryngoscope offered better view improvement and also required a shorter time for intubation compared to Truview laryngoscope

La mutualidad perlocutiva en la comunicación preverbal en niños con madres con depresión postparto / Perlocutive mutuality in preverbal communication in children with mothers with postpartum depression

Esta revisión bibliográfica es un estudio teórico que presenta avances, actualización, comparación y análisis crítico de los resultados obtenidos en trabajos empíricos de autores nacionales e internacionales del campo de la Psicolingüística y referidos puntualmente al desarrollo infantil (Montero & León, 2007). Se hace hincapié en las cualidades de las interacciones madre-hijo en la etapa pre-lingüística, en situaciones de ausencia y presencia de indicadores de patología mental materna (específicamente depresión postparto- DPP). Se describe una serie de patrones y modalidades de comunicación que mamá y bebé adoptan durante dicha fase del desarrollo del lenguaje. En primer término, se presenta la caracterización acústica y kinestésica que el Habla Dirigida al Bebé (HDB) adquiere durante la etapa preverbal, diferenciando entre los patrones comunicacionales que corresponden tanto a los mensajes emitidos como recibidos y en segundo lugar, la caracterización acústica y kinésica de los patrones comunicacionales infantiles durante la primera etapa del desarrollo del lenguaje. Posteriormente, se plantea cómo resultan afectados dichos patrones en madres con indicios de DPP, identificando los patrones de comunicación del HDB en madres -con y sin DPP-, tanto los referidos a la emisión (aspectos acústicos, discursivos y kinestésicos) como a la recepción (aspectos perceptuales), así cómo se ven afectados los patrones comunicativos en los bebés de madres con DPP. Por último, se concluye sobre la trascendencia que tiene conocer las desviaciones observables en el proceso comunicativo mamá-bebé para el trabajo terapéutico en el vínculo diádico y para el desarrollo integral del infante.

This article is a theoretical review that analyzes the results of various psycholinguistic researches on language acquisition during the prelinguistic stage depending on the mother-child relationship in situations of absence and presence of mind pathology indicators-specifically maternal postpartum depression (PPD). It follows the description of a series of patterns and modes of communication that mother and son take during this phase of language development, following the findings of national and international renowned authors dedicated to this subject. This paper seeks, in the first instance, to conceptualize and establish the main properties of communicative exchanges that occur in the mother-child interactions during the preverbal stage in situations of no obvious pathology in the mother or the infant. Secondly, sought to focus on how these patterns and / or modes of interaction are affected when the mother shows signs of emotional involvement, timely postpartum depression. And also how, therefore, this affects these communicative exchanges. Indeed, this study will present a literature review of existing research data on the effects on the communication patterns between mother and baby-during preverbal stage- when the mother suffers PPD. This improvement is important because so far these data have not been found on one paper -but compiled partially written in various research- nor presented discriminating patterns that the various modes of communication that are acquired and used by each member of the dyad. Regarding the first objective, the results have been made by several scientific papers related to the characteristics that each of the modes in which communication between the preverbal child and primary adult caretaker-usually the mother- occurs. From this, one could envision that prosody is the feature of the HDB that has been studied through the objective measurement of various acoustic aspects such as fundamental frequency, melodic contours and pitch ranges. The combination, features and ways of using the various modes of communication depend intrinsically on the relationships between the biological, psychological, social and contextual conditions that occur and determine the course and the qualities of the mother-infant interaction. Regarding the second objective, it was possible to envision that when the mother is not emotionally available to the baby's demands behavior of the pair may be asynchronous. Even children of mother with PPD may get to use self-regulatory behaviors such as gaze aversion in order to reduce the negative affect arising from the lack of responsiveness and withdrawal that characterize the behavioral repertoire of their mothers (Tronick & Gianino, 1986). However, a substantial stand out in terms of the information gathered at this point of theoretical review, it was found that most of the data and reported results derived from research in developed European countries (mainly Germany and England) and United State. And samples were made up of middle-class mothers and / or high average, with a minimum level of higher education at age 13, adults, gilts or just another child without complications in pregnancy and childbirth and with healthy term infants. Just one research formed a heterogeneous sample of mothers from different races, belonging to lower social strata and lower education level -Kaplan, Burgess, Sliter, & Moreno, 2009). This implies that this investigation results can be generalized to the type of population, culture, language and race that has been studied. In the section dedicated to discussing matters relating to the socio-demographic characteristics of the sample and biases found, make impossible to universalize the results of detailed research group here treated. Finally, it concludes on the importance of knowing the observable deviations in the communication process mom-baby has for therapeutic work on the dyadic relationship, in general, and for the development of the infant, particularly.

A Missense Mutation of IDS Gene in A Chinese Child with Mucopolysaccharidosis Type Ⅱ / 现代检验医学杂志

Objective To study the clinical characteristics and iduronate-2-sulfatase (IDS)gene mutation of one child patient with mucopolysaccharidosis type Ⅱ (MPS Ⅱ).Methods All the 9 exons of IDS gene were amplified by polymerase chain reaction (PCR)technlogy.The PCR products were screened by direct gene Sanger sequencing.Results A missense muta-tion (c.445T>C)on exon 4 was found after the analysis of the gene sequencing results of PCR products in this patient’s IDS gene.Thi smutation leaded to the 149th codon TCT encoded serine into a CCT encoding proline (p.Ser149Pro).Mean-while,the IDS gene in the parents were widetpye,so this was a de novo mutation.Conclusion The de novo mutation of IDS gene is the cause of our patient with?mucopolysaccharidosis,one novel mutation (p.Ser149Pro)was identified.

Observation of the effect of TruviewTM EVO2 laryngoscope for emergency endotracheal intubation / 中华急诊医学杂志

Objective To evaluate the value of TruviewTM EVO2 optical laryngoscope for emergency endotracheal intubation in the clinical application.Methods Forty-four patients in need for emergency endotracheal intubation were randomly (random number) divided into two groups:the observation group (TruviewTM EVO2 optical laryngoscope for tracheal intubation,n =22) and the control group (ordinary laryngoscope for tracheal intubation,n =22).Parameters recordered included C/L (Cormack-Lehane)grade,the time taken for successful intubation,tracheal intubation times,lowerest SpO2 during the intubation and the incidences of complications after intubation.IDS (intubation difficulty scale) scores were calculated and the total effective rates were compared.Results The data showed that there were no significant differences in the duration of the successful endotracheal intubation attempts between the two groups,respectively (24.04 ±6.56) s and (21.97 ±8.92) s,P ＞0.05.The C/L grade with the observation group was 10∶ 9∶ 3∶0 (Ⅰ ∶ Ⅱ ∶ Ⅲ∶ Ⅳ),which was significantly better than that with the control group (3∶ 7∶ 9∶ 3,P ＜0.01).The tracheal intubation times of the observation group was 17∶ 5∶0 (one time∶ two times∶ three times),which was significantly better than that of the control group (9∶ 8∶ 5,P ＜0.01).The minimum of SpO2 in the observation group (97.31 ± 1.64)％ was significantly higher than that in the control group (92.03 ± 5.39)％,(P ＜ 0.01).The incidence of complications after intubation was lower in the observation group.The IDS score in the observation group (0.68 ± 0.38) was much lower than those in the control group (2.54 ± 1.49),(P ＜ 0.01).In addition,the total effective rate of the observation group (86.36％) was significantly higer than that in the control group (45.45％),(P ＜0.01).Conclusions Using optical laryngoscope for emergency endotracheal intubation could facilitate the glottis exposure and reduce C/L grade effectively.It could lead to lower the incidence of complications and increase the success rate of tracheal intubation.

Asociación de la Infección por el Virus de Inmunodeficiencia Humana con Osteopenia y Osteoporosis / Association of Infection with Human Immunodeficiency Virus Osteopenia and Osteoporosis

La infección por el Virus de Inmunodeficiencia Humana (SIDA) es una pandemia, que con el advenimiento de la terapia antirretroviral de alta eficacia (TARAE), ha presentado un marcado control de la morbimortalidad; sin embargo, surgen problemáticas asociadas a dicho tratamiento, como los trastornos de la densidad mineral ósea. Encontrar la posible relación entre la infección por el VIH con la presencia de osteopenia y osteoporosis, en pacientes que reciben o no TARAE y su relación con la carga viral ARN para VIH, contaje linfocitario T CD4 y el empleo de TARAE. Se estudiaron tres grupos, Grupo 1: 28 pacientes SIDA en TARAE; Grupo 2: 22 pacientes VIH-positivo sin TARAE y Grupo 3: 30 pacientes seronegativos controles. Se analizaron 80 individuos. De los 50 pacientes VIH-positivos, 34 presentaron alteración de la densidad mineral ósea, 16 (32%) con osteopenia y 18 (36%) osteoporosis, en comparación con 4 (13.3%) y 2 (6,7%) del grupo control que presentaron osteopenia y osteoporosis respectivamente; observándose una relación estadísticamente significativa (p= 0.001) entre la infección por VIH y la alteración de la densidad mineral ósea. No hubo asociación significativa con el empleo o tipo de TARAE, carga viral o nivel de T CD4. Existe relación estadísticamente significativa entre la infección por VIH y el riesgo de padecer osteopenia y osteoporosis (p=0,001) independiente del empleo de TARAE...

HIV infection is a pandemic, but the morbidity and mortality have been controlled with the arrival of HAART. This treatment has brought other problems, like changes in bone density. To find a possible relationship between HIV infection, osteoporosis and osteopenia in patients under HAART, and the relation with CD4+ and viral load. The sample was divided in three groups: 1. 28 HIV patients treated with HAART; group 2: 22 patients HIV+ without treatment and group 3: 30 HIV negative, subjects. The total were 80 subjects. In the group with AIDS, 34 had an abnormal bone density: 16 (32%) osteopenic and 18 (36%) osteoporosis, compared with only 4 (13,3%) and 2 (7,7% ) of the control subjects. This was statistically significant (p= 0,001), but we found no association when HAART, viral load or CD4+. There is a significant association of the risk for low bone density ant AIDS...