Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy

Early-onset epileptic encephalopathies (EOEEs) are a genetically heterogeneous collection of severe epilepsies often associated with psychomotor regression. Mutations in SZT2, a known seizure threshold regulator gene, are a newly identified cause of EOEE. We present an individual with EOEE, macrocephaly, and developmental regression with compound heterozygous mutations in SZT2 as identified by whole exome sequencing. Serial imaging characterized the novel finding of progressive loss of central myelination. This case expands our clinical understanding of the SZT2-phenotype and emphasizes the role of this gene in the diagnostic investigation for EOEE and leukoencephalopathies.     

Transience in polarization of cytolytic effectors is required for efficient killing and controlled by Cdc42

Cytolytic effectors polarize toward target cells for effective killing and IFN-γ secretion. The spatiotemporal features of this polarization and their importance for cytolysis have not been resolved. In cytotoxic T cells and natural killer (NK) cells, transient polarization was consistently associated with effective killing. Polarization was regulated by Cdc42, a small Rho family GTPase universally critical for cytoskeletal dynamics. Transient accumulation of active Cdc42 at the cytolytic effector/target cell interface and focus of such accumulation on the interface center were closely related to cytolysis. Surprisingly, however, the intensity of Cdc42 activation was not. We interfered with Cdc42 activation in NK cells such that sustained polarization in long lasting nonkilling cell couples was selectively blocked. Thus the proportion of the NK cell population displaying transient polarization was increased. As a consequence, cytolytic responder frequency and IFN-γ production were enhanced upon such interference with Cdc42 activation. These data support the notion that transience in polarization is critical for cytolytic effector function, likely by preventing cytolytic effectors from becoming trapped in nonproductive target cell interactions.     

Levels of organophosphorus pesticides in medicinal plants commonly consumed in Iran

The frequent occurrence of pesticide residues in herbal materials was indicated by previous studies. In this study, the concentration of some of the organophosphorus pesticides including parathion, malathion, diazinon and pirimiphos methyl in different kinds of medicinal plants were determined. The samples were collected randomly from ten local markets of different areas of Iran. At the detection limit of 0.5 ng g^-1, parathion and pirimiphos methyl were not detected in any of the samples_. Some amounts of malathion and diazinon were found in Zataria, Matricaria chamomile, Spearmint and Cumin Seed samples while, the concentrations of target organophosphorus pesticides in Borage samples were below the detection limits of the methods which could be a result of intensive transformation of organophosphorus pesticides by Borage. In addition the organophosphorus pesticides were detected in all of the samples below the maximum residue levels (MRLs) proposed by the international organizations.     

Temporary malar augmentation helps with preoperative planning for a permanent procedure

Background  Cheek augmentation improves the appearance of patients with flat malar eminences, creating a more youthful image. Autologous adipose tissue has been demonstrated to be a safe injectable filling material for malar augmentation.
Methods  Before proceeding to fat transplantation, a rapidly absorbable substance such as normal saline is injected into the cheek with a fine needle to enhance the malar eminence.
Results  This method helps the surgeon to determine the location and amount of fat to be injected. Patients can also see a simulation of the final results.
Conclusions  A temporary malar augmentation could be performed before a potentially permanent procedure, particularly when the surgeon or patient is hesitant about the aesthetic results.     

Pharmacist and general practitioner ambivalence about providing written medicine information to patients—A qualitative study

BackgroundWritten medicine information is an important aspect of patient education, increasing patient knowledge and satisfaction. It can play an important role in promoting education, communication, and improving health literacy. In Australia, standardized, comprehensive written medicine information is available for all medicines. Patients' want such written information, however they report it is generally not supplied or there is limited interaction between healthcare professionals and patients when provided.ObjectiveA qualitative study was conducted to explore the opinions and attitudes of healthcare professionals toward the use of written medicine information in practice.MethodThe study involved focus groups with 32 general practitioners (4 groups), 29 community pharmacists (4 groups) and 7 hospital pharmacists (1 group) in Sydney and rural New South Wales. All discussions were transcribed verbatim and analyzed using thematic content analysis.FindingsAcross the groups, professionals were aware of patients' needs for medicine information, but provision to patients in practice appeared the exception rather than the rule. Common reasons for non-provision were lack of time, possible creation of patient anxiety, low literacy, and perceived length and complexity of the information. Many desired more balanced information for patients on both benefits and risks. Most felt current materials were not useful information-sharing tools; some perceived that it undermined their relationship with patients. Improvement strategies proposed included increased consultation times and improved quality of the information.ConclusionParticipants were ambivalent about supplying written medicine information to their patients and concerned about its impact on the patient-provider relationship. This contributed to limited provision, despite the information being available for all medicines. A tailored approach to meet individual patient information preferences, together with efforts to support professionals as facilitators of information may increase written medicine information utilization as an information-sharing tool to improve health literacy and patient engagement.