13q13.3 microdeletion associated with apparently balanced translocation of 46,XX,t(7;13) suggests NBEA involvement

BackgroundDeletion of 13q13.3 is an extremely rare event.CaseWe report on a 25-month-old girl with neurodevelopmental disorder and intellectual disability. She had dysmorphic facies characterized by synophrys, long and narrow palpebral fissures; and a large, round face with small organs such as the eyes and mouth positioned near the center. She was hypotonic and had autism-like behaviors. Blood tests and brain MRI revealed no specific findings. However, G-banding chromosome analysis showed an apparently balanced translocation: 46,XX,t(7,13)(q11.23;q12.3). Both parents had normal karyotypes. Furthermore, her abnormal phenotype and chromosomal breakpoint lesion were suspected to be associated. Hence, we conducted array comparative genomic hybridization, which revealed a 3.2 Mb novel pathological microdeletion at 13q13.3 involving 17 genes including neurobeachin (NBEA), a neurodevelopment disorder gene. Furthermore, fluorescence in situ hybridization using probes adjacent to the microdeletion suggested a concomitant occurrence of the deletion and translocation as the structural basis of this rare genomic variant.ConclusionNBEA may have roles in her neurodevelopmental phenotypes, whereas other genes within the 13q13.3 microdeletion may contribute to her dysmorphic features.     

Evaluation of the effectiveness of Er: YAG laser and calcium sodium phosphosilicate (Novamine) prophylaxis paste on remineralization of incipient enamel lesions in primary teeth: An in-vitro study

AimThe aim of this study was to evaluate the potential remineralization effect of Novamine and Er:YAG laser on artificial enamel lesions in primary teeth.Materials and methodsIn this in vitro study, 30 sound buccal and lingual surfaces of human primary canines were randomly divided (6 per group) into 5 groups (Novamine, Laser, Novamine+ Laser, Positive control, and a negative control). Remineralization agents were applied for 1 min to teeth using a rubber cup after creating artificially demineralised lesions. EDX analysis was performed to evaluate the Ca/P ratio and take Scanning electron microscope images.ResultsData were analyzed using Kruskal Wallis analysis. Ca/P ratio was higher in all 4 groups than the negative control group, and higher in Novamine+ Laser group than the positive control group with a statistically significant difference between groups. Overall Ca/P ratio was found to be highest in the Novamine group followed by the laser then positive control group. There were no significant differences between groups regard to Ca/P Ratios.ConclusionBased on these result Er:YAG laser combined with Novamine was provided the greatest contribution to remineralization process of primary teeth.     

Paul Cololian (1869–1956) : membre de la Société Médico-Psychologique (1902) et fondateur de l’Union des Médecins Arméniens de Paris (1920) et de la Croix-Rouge Arménienne de Paris (1922) (Partie I)

Maksoud Boghos Cololian was born December 12, 1869 in Ortakeuy. It was a suburb of Constantinople. The young Maksoud Boghos was sent to the Armenian school of Berberian when he is expected to learn to read and write in. It was here he developed a taste for litterature and the knowledge of the French language thanks to a thorough instruction. When he completed his secondary schooling, he left Armenia for France. In September 1889, he registered at the faculty of medicine of Paris. Extern in 1891 then intern from the asylums of the Seine (1894), he was appointed doctor of medicine in 1898. Cololian acquired a deep knowledge of psychiatry under the direction of great specialists (Taguet, Briand, Magnan, Garnier). Member of the Société Médico-Psychologique in 1902, his happy memories of his non-residential internship in the department of Nicolas Augustin Gilbert (1858–1927) led him to practice general medicine. That is the speciality he dedicated to as a liberal, in Paris rue de Ponthieu, without forgetting his training in psychiatry. In the Rosenwald Book, his speciality was neuropsychiatry. Considering he was a former Ottoman subject and volunteer since the beginning of hostilities in 1914, Cololian became immediately naturalized French with the title of assistant major physician medical. He was appointed head physician of the physiotherapy centers of Versailles (VR 69 and 74), Grignon and the Officers’ Hospital at Versailles. Also, he named himself Paul. He took care of war-wounded and became a precursor in the field of mechano-therapeutic on one hand, and for the measurement of impotence and infirmities one the other hand. In 1918, Cololian was decorated with the Legion of Honor by Raymond Poincaré (1860–1934) himself. Several times laureate of the Academy of Medicine and the Institute, Cololian wrote articles or memories on semiology and psychiatric treatment. He was with P. Garnier the author of a treatise on therapeutics of mental and nervous diseases (1901). Author of chronic hunting in the newspaper “Le Figaro”, medical and scientific popularization in the review “Guérir” and “La Femme et l’Enfant” and too informal written in “Les Annales politiques et littéraires”, Cololian published various articles or analyzes on studies based on morbid psychological constitutions from characters in literature, plays, movies or politics (Emma Bovary, Marie Lafarge, Hitler…). In his psychiatric and psychoanalytic reading of Flaubert's Madame Bovary, Cololian asserted that the creator of Freudianism was Flaubert. Regarding psychoanalysis, he felt Freud's theory had been taken too far by the founder and mostly by his students.     

口腔幽门螺杆菌与牙周病相关性研究进展

近年来众多研究认为口腔为幽门螺杆菌第二储存地,牙周病患者口腔中幽门螺杆菌检测阳性率高于牙周健康者,并且其阳性率与牙周病变严重程度呈正相关。口腔幽门螺杆菌可造成牙周组织细胞的凋亡,促进牙周病变。同时因为其与胃病相关,使得牙周病患者口腔幽门螺杆菌的研究一直受众多学者关注。本文就口腔幽门螺杆菌与牙周病相关性研究进展做一综述。     

2369例高校职工幽门螺杆菌感染检测结果分析

目的 观察高校教职工人群胃幽门螺杆菌(HP)感染情况,加强对其感染的防控工作。方法 空腹采集教职工体检人群静脉血,检测胃幽门螺杆菌抗体滴度,观察其感染情况。结果 人群HP总阳性率为43.31%。其中:男性阳性率为45.82%,女性阳性率为40.53%,差异有统计学意义(P<0.05)。按年龄段分组比较其感染情况,各年龄组阳性率男性普遍高于女性,但只有41～50岁组男性与女性比较差异有统计学意义(P<0.05)。41～50岁年龄组和51～60岁年龄组阳性率高于其他年龄组,差异有统计学意义(P<0.05)。结论 胃幽门螺杆菌感染率较高,且男性感染率高于女性。应加强对该疾病的预防保健工作,提高人群防病治病的健康意识。     

持续质量改进在降低ICU呼吸机相关肺炎感染管理中的作用

目的 针对ICU呼吸机相关肺炎(VAP)感染率较高和引起VAP感染的各种因素,探讨运用持续质量改进措施在降低VAP感染率和医务人员对VAP防控措施执行依从性的作用。方法 选择2017年7月1日—2018年6月30日,入住ICU行机械通气超过48 h且无肺部基础疾病的重症患者,用随机数字表法分为观察组(55例)和对照组(55例),对照组采取常规诊疗与护理措施,观察组运用持续质量改进法,比较2组VAP感染率及医护集束化控制措施执行依从率的变化。结果 观察组患者VAP千日感染率(11.3‰)明显低于对照组(27.5‰),差异有统计学意义(χ2=6.11,P<0.05)。医护人员对VAP预防措施执行项目的依从率,2组比较差异均有统计学意义(P<0.05)。结论 持续质量改进一方面能降低ICU VAP感染率,另一方面提高了医护人员对落实各项管理措施执行的依从性,提升了医护管理质量,保障了患者的诊疗安全。     

Microspheres of essential oil in polylactic acid and poly(methyl methacrylate) matrices and their blends

This study is focussed on micro-encapsulation of essential oils in polylactic acid (PLA) and a poly(methyl methacrylate) (PMMA) matrix as well as blends of the same. Microspheres were prepared by the solvent evaporation technique and characterised by scanning electron microscopy (SEM), differential scanning calorimetry (DSC) and Fourier transform infra-red spectroscopy (FTIR). The encapsulation efficiencies and release profiles of the essential oils were studied by gas chromatography mass spectrometry (GC-MS) and head-space solid-phase microextraction GC-MS, respectively. Furthermore, the microspheres were tested for antibacterial activity against both Gram-negative and Gram-positive bacterial strains.

The results showed that the microspheres compositions (PLA/PMMA ratio) have significant effect on their characteristics. The process adopted for preparing the microspheres promoted formation of spherical particles at the sizes of 1.5–9.5?µm. The highest encapsulation efficiency of the prepared microspheres was observed in systems consisting of linalool (81.10?±?10.0?wt. % for PLA system and 76.0?±?3.3?wt. % for PMMA system). Confirmation was also made that the release rate of the microspheres was affected by the size of the same.     

The Reaction of Poly(Vinyl Amine) with Acetone in Water

Poly(vinyl amine) (PVAm) reacts with acetone in aqueous solution. It generates imine and aminal moieties along the PVAm backbone. The molecular structure of acetone‐modified PVAm is confirmed by liquid ¹H and ¹³C as well as solid state ¹³C NMR and ATR‐FTIR spectroscopies. Model compounds produced from 1,3‐diaminopropane with acetone in chloroform are used to assign the solid state ¹³C NMR signals of the modified polymer. Quantitative elemental analysis of acetone‐modified PVAm samples supports the analytical results. The mechanism of the imine and aminal formation is discussed with regard to the anomeric stabilization of the incipient hemiaminal intermediate. The rapid and unexpectedly favorable formation of PVAm acetone hemiaminal, acetone imine, and aminal formation has implications for the conduct of PVAm research and even the interpretation of prior published results. As acetone was often used in the past to precipitate waterborne PVAm derivatives, this finding has a severe impact on the interpretation of research results. The consequences and the revised interpretation of selected publications are discussed.     

An Injectable ROS‐Responsive Self‐Healing Hydrogel Based on tetra‐poly(ethylene glycol)‐b‐oligo(l‐methionine)

Abnormal physiological conditions provide an ideal stimulus for the design of responsive hydrogels which function as controlled and site‐specific release of drugs. Here, an injectable reactive oxygen species (ROS) responsive self‐healing hydrogel based on tetra‐poly(ethylene glycol)‐b‐oligo (l ‐methionine) (t‐PEG₅₆‐b‐OMeth_n) synthesized by a novel and facile method is reported. The hydrophobic interactions between the side chains of l ‐methionine make the polymer chains crosslinked and lead to the formation of hydrogels which can be injected and self‐healed, meanwhile, the cross‐linker also provides a hydrophobic domain to encapsulate Dox. In presence of ROS, the side chain of l ‐methionine can be oxidized to methionine sulfoxide. The side chain of l ‐methionine is changed accordingly from hydrophobic to hydrophilic. As a result, both the hydrophobic domain and the hydrogel itself are destroyed. The controlled release of Dox by ROS at site‐specific is realized. The excellent biocompatibility of hydrogel based on t‐PEG₅₆‐b‐OMeth_n indicates the door of the potential application in controlled release of drug in a truly physiological environment.     

Superhydrophobic Porous PLLA Sponges with Hierarchical Micro‐/Nano‐Structures for High‐Efficiency Self‐Cleaning

Porous poly (l ‐lactic acid) (PLLA) sponges have received rapid development in the materials science and energy fields due to their good biocompatibility and degradability. Herein, hierarchical micro‐/nano‐structures of PLLA sponges are successfully prepared by the microphase separation method to investigate the influence of non‐solvents on PLLA microtopography. The interaction ability between PLLA and various alcohol non‐solvents is precisely calculated by using the Flory–Huggins equation. SEM results show that the porosity of PLLA surfaces increases with increasing non‐solvent solubility parameters at a certain range. When the solubility parameters of alcohol non‐solvents are much higher than that of PLLA, PLLA bulks accumulate on the surfaces, mainly caused by its insolubility. DSC curves disclose that the crystallinity has a positive relationship with contents and solubility parameters of alcohol non‐solvents. Furthermore, these porous PLLA surfaces show strong water repellency and self‐cleaning ability so that the contaminant can be quickly cleared away from the PLLA surfaces. This study provides a new insight into understanding the formation process of PLLA porous materials and the wetting variation for high‐efficiency self‐cleaning.