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Chronic granulomatous disease (CGD) is an inherited immunodeficiency due to defective leukocyte NADPH responsible for recurrent infections and aberrant inflammation. Mutations in the CYBB gene are responsible for the X-linked CGD and account for approximately 70% of the cases. CGD is diagnosed during childhood in males. Female carriers may have biased X-inactivation and may present with clinical manifestations depending on the level of residual NADPH oxidase activity. We report the case of a previously asymptomatic female carrier who was diagnosed at age 67 with a skin infection with the rare fungus Paecilomyces lilacinus as the first manifestation of CGD. Dihydrorhodamine 123 (DHR) activity was below 10%. Next-generation sequencing (NGS) revealed mutations in DNMT3A, ASXL1, and STAG2 suggesting that clonal hematopoiesis could be responsible for a progressive loss of NADPH oxidase activity and the late onset of X-linked CGD in this patient. Long-term follow-up of asymptomatic carrier women seems to be essential after 50 years old.
相似文献Objectives
To examine the potential added value of a simple 5-item questionnaire for sarcopenia screening (SARC-F) to the Fracture Risk Assessment Tool (FRAX) for hip fracture risk prediction, in order to identify at-risk older adults for screening with dual-energy x-ray absorptiometry (DXA).Design
A prospective cohort study.Setting and participants
Two thousand Chinese men and 2000 Chinese women aged 65 years or older were recruited from local communities and were prospectively followed up for about 10 years.Measures
Areal bone mineral density (BMD) of hip and lumbar spine were measured by DXA at baseline. Ten-year FRAX probability of hip fracture was calculated using the baseline risk factors. Information from the baseline questionnaire was extracted to calculate a modified SARC-F score. The independent predictive values of SARC-F and FRAX questionnaire were evaluated using multivariate survival analysis. The added predictive values of SARC-F to FRAX for pre-DXA screening were examined.Results
During the follow-up, 63 (3.2%) men and 69 (3.5%) women had at least 1 incident hip fracture. SARC-F had an independent value of FRAX for hip fracture risk prediction, with an adjusted hazard ratio [95% confidence interval (CI)] of 1.24 (1.02, 1.52) and 1.15 (0.99, 1.13) in men and women, respectively. Compared with using FRAX, using SARC-F in conjunction with FRAX made the sensitivity for prediction rise from 58.7% to 76.2% in men and from 69.6% to 78.3% in women, with a nondecreased area under receiver operating characteristic curve of 0.67. Prescreening using FRAX in conjunction with SARC-F could save more than half of the DXA assessment than with no prescreening.Conclusions/Implications
SARC-F is associated with a modest increase in hip fracture risk, especially in men. Conjoint evaluation for sarcopenia in addition to FRAX screening may help identify older adults at higher risk of hip fracture for more intensive screening and/or preventive interventions. 相似文献Materials and methods: Two neuropsychological tests, one subjective straight-ahead pointing (SSA) test and one wheelchair navigation test were carried out before the combination protocol, immediately after, 1?h later, and 24?h later.
Results: The results showed a reduction of neglect spatial bias following the protocol lasted at least 24?h in all the tests (except for the SSA test due to the unavailability of the pointing device).
Conclusions: The range of improvements in the symptoms of spatial neglect suggests that this therapeutic intervention based on the combining neck-muscle vibration to voluntary arm movements could be a useful treatment for this condition. One of future investigation axes should be the development of a vibratory tool in order to facilitate the combining this proprioceptive stimulation to daily activities.
- Implications for rehabilitation
Spatial neglect is a perplexing neuropsychological syndrome, affecting different domains of spatial cognition and impacting also the functional domain.
The treatments based on neck-muscle vibration are simple to use, non-invasive and requires none active participation of patient.
A therapeutic intervention based on the combining left neck-muscle vibration and voluntary arm movements in a left-spatial-neglect show a lasting reduction of symptoms especially in daily activities.
The combination of treatments based on the Bottom–Up approach opens innovative perspectives in rehabilitation.