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1.
Coates Laura C. Mease Philip Kronbergs Andris Helt Cameron Sandoval David Park So Young Combe Bernard Nash Peter Deodhar Atul 《Clinical rheumatology》2022,41(10):3035-3047
Clinical Rheumatology - To evaluate the three-year efficacy and safety of ixekizumab with and without concomitant conventional synthetic disease-modifying antirheumatic drug (csDMARD) use in... 相似文献
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Bertrand Isidor Frédéric Ebstein Anna Hurst Marie Vincent Ingrid Bader Natasha L. Rudy Benjamin Cogne Johannes Mayr Anja Brehm Caleb Bupp Kathryn Warren Carlos A. Bacino Amanda Gerard Judith D. Ranells Kay A. Metcalfe Yolande van Bever Yong-Hui Jiang Bryce A. Mendelssohn PaweƗ Stankiewicz 《Genetics in medicine》2022,24(1):179-191
PurposeHaploinsufficiency of PSMD12 has been reported in individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), facial dysmorphism, and congenital malformations, defined as Stankiewicz-Isidor syndrome (STISS). Investigations showed that pathogenic variants in PSMD12 perturb intracellular protein homeostasis. Our objective was to further explore the clinical and molecular phenotypic spectrum of STISS.MethodsWe report 24 additional unrelated patients with STISS with various truncating single nucleotide variants or copy-number variant deletions involving PSMD12. We explore disease etiology by assessing patient cells and CRISPR/Cas9-engineered cell clones for various cellular pathways and inflammatory status.ResultsThe expressivity of most clinical features in STISS is highly variable. In addition to previously reported DD/ID, speech delay, cardiac and renal anomalies, we also confirmed preaxial hand abnormalities as a feature of this syndrome. Of note, 2 patients also showed chilblains resembling signs observed in interferonopathy. Remarkably, our data show that STISS patient cells exhibit a profound remodeling of the mTORC1 and mitophagy pathways with an induction of type I interferon-stimulated genes.ConclusionWe refine the phenotype of STISS and show that it can be clinically recognizable and biochemically diagnosed by a type I interferon gene signature. 相似文献
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Sleep and Breathing - The presence of periodic limb movements during sleep (PLMS) varies among patients with obstructive sleep apnea (OSA) undergoing treatment with continuous positive airway... 相似文献
5.
So Young Jeon Oh Eun Kwon Jin Woo Jang Sang Yoon Kang Jin-Young Min Sung Wan Kim 《Auris, nasus, larynx》2021,48(5):1031-1034
Stickler syndrome is a genetic disorder of connective tissue. One of the major symptoms associated with this disorder is an oro-facial malformation, which may cause a submucous cleft or a complete cleft of the hard palate. A 32-year-old man diagnosed with Stickler syndrome and a submucosal cleft palate (SMCP) visited our hospital with a chief complaint of excessive daytime sleepiness. The patient was diagnosed with severe obstructive sleep apnea (OSA), and administration of a polysomnography test revealed an apnea-hypopnea index (AHI) of 30.9 events/hour (h). Auto-titrating continuous positive airway pressure was initiated to control the OSA symptoms and subsequently the patient showed some improvement. However, due to continuous velopharyngeal insufficiency symptoms, intravelar veloplasty was performed. Three months after surgery, the AHI had decreased to 12.4 events/h. Recent studies have described a greater risk for OSA in individuals with cleft palate, than in the general population. The present case demonstrates surgical success in a patient with OSA and SMCP, suggesting that palatal surgery may be considered an optional surgical treatment for OSA patients with SMCP. 相似文献
6.
ObjectivesThis study reports on the readiness of Palestinian dentists to reopen their practices for routine care during the current coronavirus disease 2019 (COVID-19) pandemic.MethodsA cross-sectional study targeted dentists in the West Bank area of Palestine using an online survey during the first 2 weeks of May 2020. Questions mainly asked about dentists’ perception of the risks of COVID-19, readiness to reopen their clinics for routine care, and the level of confidence in dealing with patients suspected of having COVID-19.ResultsA total of 488 dentists completed the survey. Almost 60% believed that they were not ready to reopen their practices. Almost 13% had “no confidence” in dealing with patients with COVID-19, while 64% had “little to moderate” confidence. Confidence was correlated negatively with increased fear of becoming infected (ρ = -0.317, P < .0001) and positively with years of practice (ρ = 1.7, P < .0001). Dentists who received updated training on infection control or on COVID-19 reported higher levels of confidence (χ2 = 53.8, P < .0001, χ2 = 26.8, P < .0001, respectively). Although 88% preferred not to treat patients with COVID-19, 40% were willing to provide care to them. Almost 75% reported that they were already facing financial hardships and could not survive financially until the end of the current month.ConclusionsEthical and financial reasons were the main drivers for dentists in this sample to reopen their practices for routine care. Data from this study highlights the fragility of private dental practice in emergency situations. Ethical, health, and financial challenges that emerged during COVID-19 require dentists to adapt and be better prepared to face future crises. 相似文献
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Kim Sung Jin Park Min Uk Chae Han Kyu Nam Wook Kim So Won Yu Hoon Kim Han Gwun Kang Gil Hyun Park Jong Yeon 《International journal of clinical oncology / Japan Society of Clinical Oncology》2022,27(2):403-410
International Journal of Clinical Oncology - Previous studies have shown a relationship between the occurrence and recurrence of prostate cancer; however, this relationship remains controversial.... 相似文献
9.
Miranda So Jonathan Hand Graeme Forrest Stephanie M. Pouch Helen Te Monica I. Ardura Rachel M. Bartash Darshana M. Dadhania Jeffrey Edelman Dilek Ince Margaret R. Jorgenson Sarah Kabbani Erika D. Lease Deborah Levine Linda Ohler Gopi Patel Jennifer Pisano Michael L. Spinner Lilian Abbo Elizabeth C. Verna Shahid Husain 《American journal of transplantation》2022,22(1):96-112
Antimicrobial stewardship programs (ASPs) have made immense strides in optimizing antibiotic, antifungal, and antiviral use in clinical settings. However, although ASPs are required institutionally by regulatory agencies in the United States and Canada, they are not mandated for transplant centers or programs specifically. Despite the fact that solid organ transplant recipients in particular are at increased risk of infections from multidrug-resistant organisms, due to host and donor factors and immunosuppressive therapy, there currently are little rigorous data regarding stewardship practices in solid organ transplant populations, and thus, no transplant-specific requirements currently exist. Further complicating matters, transplant patients have a wide range of variability regarding their susceptibility to infection, as factors such as surgery of transplant, intensity of immunosuppression, and presence of drains or catheters in situ may modify the risk of infection. As such, it is not feasible to have a “one-size-fits-all” style of stewardship for this patient population. The objective of this white paper is to identify opportunities, risk factors, and ASP strategies that should be assessed with solid organ transplant recipients to optimize antimicrobial use, while producing an overall improvement in patient outcomes. We hope it may serve as a springboard for development of future guidance and identification of research opportunities. 相似文献
10.
Bobo H. P. Lau Ting-Kin Ng Yat-Lui Fung Tai-Chung Lam Tsz-Him So 《Journal of psychosocial oncology》2020,38(4):389-405
AbstractPurposes/objectives: This paper reports the comparative efficacies of integrative body-mind-spirit intervention (I-BMS) and cognitive behavioral therapy (CBT) in patient-caregiver parallel groups for Chinese patients with lung cancer.Design: Randomized controlled trial (RCT).Methods: One hundred and fifty-seven patient-caregiver dyads with no marked functional impairment were randomized into one of the two interventions with eight weekly patient-caregiver parallel groups. Assessments were conducted at baseline, within one, eight- and sixteen-weeks post-intervention. Effects of treatment group across time were analyzed by multilevel modeling.Findings: CBT led to greater reduction in emotional vulnerability than I-BMS. I-BMS resulted in greater increase in overall QoL and spiritual self-care, and more reduction in depression than CBT. Patients in both interventions experienced improvement in physical, emotional and spiritual, except social, domains of QoL.Conclusion: I-BMS was more efficacious for diverse domains of QoL, and CBT was more effective for emotional well-being, despite the relatively small between-group effect sizes.Implications for psychosocial providers/policy: (1) With the expanding repertoire of psychosocial interventions for families facing lung cancer, it has become imperative to investigate the comparative efficacies of empirically supported and culturally adapted interventions. (2) Our findings show that I-BMS was more effective for diverse domains of QoL, while CBT was more efficacious with emotional well-being, although both interventions led to significant improvements in physical, emotional and spiritual domains of patient QoL. (3) Patient-caregiver parallel groups have been shown to be effective for enhancing QoL of Chinese lung cancer patients. (4) Care professionals are encouraged to dispense interventions based on the idiosyncratic needs and preferences of the patients to maximize the treatment effects. 相似文献