The Colombian population is characterised by a high genetic diversity, secondary to the ethnic mixture arising from colonisation. Unfortunately, few reports are available regarding HLA‐DRB1 and DQB1 diversity in Colombia to date. HLA‐DRB1 and DQB1 diversity was identified in this study using next‐generating sequencing (NGS) on a cohort of Colombian women. Cervical samples taken from 276 women were used for typing DRB1 and DQB1 loci by Illumina MiSeq. Allele and haplotype frequencies were calculated using an expectation‐maximisation algorithm. Hardy‐Weinberg Equilibrium and linkage disequilibrium (LD) between loci were evaluated. Forty‐seven DRB1 alleles and 14 DQB1 alleles were identified. DRB1*04:07:01G and DQB1*03:02:01G alleles occurred most frequently in the target population. Significant LD was found in 44 out of the 144 identified haplotypes, within which DRB1*04:07:01G‐DQB1*03:02:01G occurred most frequently (6.56%). The alleles and haplotypes found with NGS agreed with that found in previous reports involving lower resolution for the Colombian population, and greater genetic variability was found, especially concerning DRB1. Comparing allele and haplotype frequency distribution in the target population to that of other populations denoted HLA system intra‐ and inter‐population diversity. 相似文献
We detected a somatic mutation in the HLA‐B gene in a Czech hematooncological patient. We followed the development of this somatic mutation during the transition from severe aplastic anaemia through to myelodysplastic syndrome to acute myeloid leukaemia until haploidentical related transplantation. The somatic mutation differs from HLA‐B*14:02 in exon 3 resulting in an exchange from cysteine to serine at position 101 of the mature protein. Homology modelling of mutated S101 in HLA‐B*14 indicated possible conformational changes, which might also result in an aberrant expression. The assumption is that somatic mutation arose as a possible result of a selection mediated by a protective immune response against leukaemia. 相似文献
Distance caregivers (DCGs) represent a growing demographic. The emotional burden of caregiving for a family member with cancer is amplified by the logistical challenges of providing support from afar. DCGs feel higher levels of distress, anxiety, and depression compared with local caregivers. Videoconference technology may alleviate both the emotional and practical burdens faced by DCGs. This is an ongoing randomized controlled trial in 32 outpatient ambulatory clinics at a large, urban, comprehensive cancer center. To date, 332 patient‐DCG dyads have been enrolled. DCGs must have internet access and have been identified by the patient as a source of support. The intervention period is 4 months. DCGs are randomized to one of three arms: DCGs in Arm 1 receive four coaching sessions with an advanced practice nurse or social worker and four videoconference appointments during the oncologist‐patient office visit. DCGs in Arm 2 participate in four videoconference appointments with the oncologist and patient, and Arm 3 is the control group, which receives access to information through a website. Primary outcome variables are DCG distress, anxiety, depression, burden, self‐efficacy, and emotional support. These data are collected electronically at baseline, 4 months, and 6 months. Patient distress, anxiety, and depression are also assessed at these same intervals using brief in‐person interviews. The change in each of the DCG outcomes over time will be examined by a repeated measures analysis of covariance. 相似文献
BACKGROUND The caustic ingestion continues to be a major problem worldwide especially in developing countries. The long-term complications include stricture and increased life time risk of oesophageal carcinoma. Patients suffered from corrosive induced oesophageal strictures have more than a 1000-fold risk of developing carcinoma of the oesophagus.AIM To determine the possibility of oesophageal mucosal dysplasia after prolonged dilatation in post corrosive stricture.METHODS This observational study was conducted at the Paediatric Endoscopy Unit in Cairo University Children's Hospital. It included children of both sexes older than 2 years of age who had an established diagnosis of post-corrosive oesophageal stricture and repeated endoscopic dilatation sessions for more than 6 mo. All patients were biopsied at the stricture site after 6 mo of endoscopic dilatation. A histopathological examination of an oesophageal mucosal biopsy was performed for the detection of chronic oesophagitis, inflammatory cellular infiltration and dysplasia.RESULTS The mean age of the enrolled children was 5.9 ± 2.6 years; 90% of the patients had ingested an alkaline corrosive substance(potash). The total number of endoscopic dilatation sessions were ranging from 16 to 100 with mean number of sessionswas 37.2 ± 14.9. Histopathological examination of the specimens showed that 85%of patients had evidence of chronic oesophagitis(group A) in the form of basal cell hyperplasia, hyperkeratosis and subepithelial fibrosis. Thirteen percent of the patients had evidence of reactive atypia(group B) in the form of severe neutrophilic intraepithelial inflammatory cellular infiltration, and 2 patients(2%)had mild squamous dysplasia(group C); we rebiopsied these two patients 6 mo after the initial pathological assessment, guided by chromoendoscopy by Lugol's iodine.CONCLUSION The histopathology of oesophageal mucosal biopsies in post-corrosive patients demonstrates evidence of chronic oesophagitis, intraepithelial inflammatory cellular infiltration and dysplasia. Dysplasia is one of the complications of postcorrosive oesophageal stricture. 相似文献
Purpose: To provide a comprehensive review of psycho-educational interventions using telecommunication technologies developed for adult cancer patients, assessing their effectiveness in reducing emotional distress and improving quality of life (QoL).
Materials and methods: A narrative approach was used for extraction and synthesis of the data. Relevant studies were identified through the electronic databases PubMed, Scopus, Web of Science, ProQuest, Psychology & Behavioral Sciences Collection (through EBSCOhost), and CENTRAL.
Results: Eight studies involving 1016 participants met inclusion criteria. The majority of the studies included (n?=?6) used a randomized design and were published between 2007 and 2016. Interventions used a variety of delivery resources, such as telephone, e-mail and websites, but all were aiming to respond to information needs and develop stress control skills. A trend toward reducing distress and improving QoL was found, but estimated effect sizes were typically small (d?<?0.5). Telephonically delivered psycho-educational interventions presented the highest between-group effects on these outcomes during survival, but were limited by sample size.
Conclusions: The efficacy of interventions using distance approaches in the cancer setting is still not well-established. Further research should be conducted through well-designed studies with more interactive features that minimize the lack of face-to-face interaction.
Implications for rehabilitation
Rehabilitation professionals working in the field of oncology should invest in the development of psycho-educational interventions responding the patients’ educational needs and promoting their stress control skills.
Programs using telecommunications technologies may reduce disparities in service delivery within this setting, minimizing geographic and socio-economic barriers to engagement in the interventions.
With the current technological development, it is possible to perform more interactive interventions that stimulate therapist–patient interactions. However, available protocols in this field still employ basic resources (e.g., websites, e-mail, and videos).
Young adult cancer patients are exposed to additional requirements related to fertility and parenthood. New intervention approaches should consider their informational needs.
Purpose: To examine the feasibility of undertaking a pragmatic single-blind randomised controlled trial (RCT) of a visual arts participation programme to evaluate effects on survivor wellbeing within stroke rehabilitation.
Methods: Stroke survivors receiving in-patient rehabilitation were randomised to receive eight art participation sessions (n?=?41) or usual care (n?=?40). Recruitment, retention, preference for art participation and change in selected outcomes were evaluated at end of intervention outcome assessment and three-month follow-up.
Results: Of 315 potentially eligible participants 81 (29%) were recruited. 88% (n?=?71) completed outcome and 77% (n?=?62) follow-up assessments. Of eight intervention group non-completers, six had no preference for art participation. Outcome completion varied between 97% and 77%. Running groups was difficult because of randomisation timing. Effectiveness cannot be determined from this feasibility study but effects sizes suggested art participation may benefit emotional wellbeing, measured on the positive and negative affect schedule, and self-efficacy for Art (d?=?0.24–0.42).
Conclusions: Undertaking a RCT of art participation within stroke rehabilitation was feasible. Art participation may enhance self-efficacy and positively influence emotional wellbeing. These should be outcomes in a future definitive trial. A cluster RCT would ensure art groups could be reliably convened. Fewer measures, and better retention strategies are required.
Implications for Rehabilitation
This feasibility randomised controlled trial (RCT) showed that recruiting and retaining stroke survivors in an RCT of a visual arts participation intervention within stroke rehabilitation was feasible.
Preference to participate in art activities may influence recruitment and drop-out rates, and should be addressed and evaluated fully.
Art participation as part of rehabilitation may improve some aspects of post-stroke wellbeing, including positive affect and self-efficacy for art.
A future definitive cluster RCT would facilitate full evaluation of the value art participation can add to rehabilitation.
