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951.
Douglas N. Sanders Rong Zeng David A. Wenger Gary S. Johnson Gayle C. Johnson Jared E. Decker Martin L. Katz Simon R. Platt Dennis P. O'Brien 《Molecular genetics and metabolism》2013,108(1):70-75
GM2 gangliosidosis is a fatal lysosomal storage disease caused by a deficiency of β-hexosaminidase (EC 3.2.1.52). There are two major isoforms of the enzyme: hexosaminidase A composed of an α and a β subunit (encoded by HEXA and HEXB genes, respectively); and, hexosaminidase B composed of two β subunits. Hexosaminidase A requires an activator protein encoded by GM2A to catabolize GM2 ganglioside, but even in the absence of the activator protein, it can hydrolyze the synthetic substrates commonly used to assess enzyme activity. GM2 gangliosidosis has been reported in Japanese Chin dogs, and we identified the disease in two related Japanese Chin dogs based on clinical signs, histopathology and elevated brain GM2 gangliosides. As in previous reports, we found normal or elevated hexosaminidase activity when measured with the synthetic substrates. This suggested that the canine disease is analogous to human AB variant of GM2 gangliosidosis, which results from mutations in GM2A. However, only common neutral single nucleotide polymorphisms were found upon sequence analysis of the canine ortholog of GM2A from the affected Japanese Chins. When the same DNA samples were used to sequence HEXA, we identified a homozygous HEXA:c967G>A transition which predicts a p.E323K substitution. The glutamyl moiety at 323 is known to make an essential contribution to the active site of hexosaminidase A, and none of the 128 normal Japanese Chins and 92 normal dogs of other breeds that we tested was homozygous for HEXA:c967A. Thus it appears that the HEXA:c967G>A transition is responsible for the GM2 gangliosidosis in Japanese Chins. 相似文献
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953.
Florian Vogt Jagdeep Sahota Therese Bidder Rebecca Livingston Helene Bellas Simon B. Gane Valerie J. Lund Douglas S. Robinson Harsha H. Kariyawasam 《Clinical and translational allergy》2021,11(1)
BackgroundChronic rhinosinusitis (CRS) has a high prevalence of anxiety and depression. It is currently uncertain if treatment in patients with CRS with or without nasal polyps (CRSwNP and CRSsNP) has any impact on improving mental health outcomes. The aims here were to document anxiety and depression in patients with severe CRS and asthma already treated with appropriate medical therapy. We then evaluated whether further maximal treatment with omalizumab improved anxiety and/or depression alongside improvements in CRS and coassociated asthma.MethodsHospital Anxiety and Depression Scale (HADS) scores along with measures of CRS and asthma severity were recorded according to CRSwNP and CRSsNP status in n = 95 patients with severe CRS and asthma. Of this group, a further n = 23 had omalizumab for associated allergic asthma. Follow‐up measures were collected 16 weeks after omalizumab treatment.ResultsHADS anxiety and depression prevalence in CRS were 49.47 % and 38.95%, respectively. Within the CRSwNP and CRSsNP group 53.06% and 45.66% had raised HADS‐anxiety scores. Abnormal HADS‐depression scores were present in 40.82% and 36.95% of the CRSwNP and CRSsNP groups, respectively. Correlations for sinonasal outcome test‐22 (SNOT‐22) versus HADS total was r = 0.59 p < 0.0001, HADS‐anxiety r = 0.56 p < 0.0001 and HADS‐depression r = 0.49 p < 0.0001. Omalizumab improved anxiety in CRS (p < 0.0001) regardless of nasal polyp status (CRSwNP p = 0.0042 and CRSsNP p = 0.0078). Depression scores did not improve in either group. SNOT‐22 (p = 0.0006), asthma control questionnaire‐7 (p = 0.0019) and mini‐asthma quality of life questionnaire including emotional function (p = 0.0003 and p = 0.0009, respectively) all improved in both subgroups.ConclusionIn CRS and asthma, anxiety scores but not depression improved after omalizumab treatment. Anxiety may be closely related to airway disease severity, but depression may be independent of airway disease itself. If so, a separate mental health care pathway is needed for CRS patients with depression. 相似文献
954.
Simon Lotz Christin Grill Madita Gb Wolfgang Draxinger Jan Philip Kolb Robert Huber 《Biomedical optics express》2021,12(5):2604
In highly dispersion compensated Fourier domain mode locked (FDML) lasers, an ultra-low noise operation can only be achieved by extremely precise and stable matching of the filter tuning period and light circulation time in the cavity. We present a robust and high precision closed-loop control algorithm and an actively cavity length controlled FDML laser. The cavity length control achieves a stability of ∼0.18 mHz at a sweep repetition rate of ∼418 kHz which corresponds to a ratio of 4×10−10. Furthermore, we prove that the rapid change of the cavity length has no negative impact on the quality of optical coherence tomography using the FDML laser as light source. 相似文献
955.
Leong Dephne Jack Xin de Souza Nurun Nisa Sultana Rehena Yap Adrian Ujin 《Clinical oral investigations》2020,24(1):465-473
Clinical Oral Investigations - Systematic review analyzing the treatment outcomes of cracked teeth that received endodontic treatment is unavailable. The purpose of this study was to examine the... 相似文献
956.
Roccuzzo Andrea Marchese Sissi Worsaae Nils Jensen Simon Storgrd 《Clinical oral investigations》2020,24(3):1073-1089
Clinical Oral Investigations - The aim of this systematic review was to investigate the predictability of the sandwich osteotomy technique to provide sufficient alveolar bone height for dental... 相似文献
957.
958.
Xuelian Xu Ban Leong Sun Fang Huang Hui Lee Amanda Chia Rehena Sultana Agnes Teo Barbara S. Tuner 《Journal of PeriAnesthesia Nursing》2021,36(2):122-127
PurposeThe project piloted a perioperative music listening program to explore the feasibility and acceptability of the use of music in a perioperative setting for female surgical patients in an academic hospital in Singapore. The aim was also to examine the most commonly chosen music genres, timing, and length of time listening to music for perioperative patients to assess the impact of music on patients' satisfaction, anxiety, and depression.DesignThis was a quality improvement project.MethodsMusic playlists developed by a music therapist were installed on three iPod TouchTM devices (Apple, Cupertino, CA). After obtaining consent, female patients undergoing elective gynecologic day surgery selected their preferred music from the playlists on the iPods to listen to during the preoperative and postoperative periods. Patients' anxiety and depression were measured using the Hospital Anxiety and Depression Scale and the three-level version of the EuroQol five-dimensional questionnaire. Patients' satisfaction with listening to music, duration, and chosen music genres were recorded.FindingsIn the project, 135 patients listened to music during the preoperative period, and 70 patients chose to listen to music in the postoperative period. Patients were satisfied with the music listening program in both the preoperative (95.5%) and the postoperative (91.5%) periods. In the preoperative period, the most popular music genres were Disney songs (17.7%), classical music (11.6%), and the Piano Guys (7.5%). In the postoperative period, the most favorable music genres were classical music (26.3%), Disney songs (7.9%), and the Beatles (7.9%). This project suggests that music listening may be associated with patients' decreased anxiety and depression as measured by the three-level version of the EuroQol five-dimensional questionnaire questionnaire (P = .008).ConclusionsImplementation of a music listening program in perioperative settings is feasible and accepted well by patients as evidenced by the high satisfaction scores. The project addressed patients' satisfaction, anxiety, and depression before and after elective surgery. The findings suggest that music listening is a safe, inexpensive, and effective intervention in perioperative settings. 相似文献
959.