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AIM: To determine whether the prevalence of treated hypertension is higher among males or females with early/intermediate (e/i) age-related macular degeneration (AMD) with and without bilateral reticular pseudodrusen (RPD). METHODS: Retrospective review of the records of patients with e/iAMD who were recruited into the University of Colorado AMD registry between July 2014 and November 2019. Images were classified using the Beckman Initiative criteria and presence/absence of RPD. Patients were categorized into three groups: 1) e/iAMD with RPD; 2) e/iAMD without RPD; 3) control patients who did not have AMD. Multinomial logistic regression analysis was used for adjusted analysis with odds ratios (OR) and confidence intervals (CI). RESULTS: There were 260 patients with e/iAMD of which 101 had bilateral RPD and 159 had no RPD, and 221 controls. Overall, 62% of patients were female and the three groups did not differ by gender. When stratified by gender, the female e/iAMD/RPD group had a higher prevalence of hypertension, 64.1% vs 45.2% for controls, OR=2.2 (95%CI: 1.2-4.0). The frequency of hypertension in the e/iAMD/no RPD group was 54.1% and did not significantly differ from the control group. Among males, prevalence rates of treated hypertension did not differ. There is a significant interaction of hypertension and gender for the e/iAMD/RPD group such that women with e/iAMD who had RPD were significantly more likely to have hypertension (P=0.042). This relationship was not significant in the e/iAMD/no RPD group (P=0.269). CONCLUSION: Among females treated hypertension is significantly higher among e/iAMD/RPD patients, whereas for males there is no significant association.  相似文献   
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Wilson’s disease (WD) is a rare inherited disorder of human copper metabolism, with an estimated prevalence of 1:30000-1:50000 and a broad spectrum of hepatic and neuropsychiatric manifestations. In healthy individuals, the bile is the main route of elimination of copper. In WD patients, copper accumulates in the liver, it is released into the bloodstream, and is excreted in urine. Copper can also be accumulated in the brain, kidneys, heart, and osseous matter and causes damage due to direct toxicity or oxidative stress. Hepatic WD is commonly but not exclusively diagnosed in childhood or young adulthood. Adherent, non-cirrhotic WD patients seem to have a normal life expectancy. Nevertheless, chronic management of patients with Wilson’s disease is challenging, as available biochemical tests have many limitations and do not allow a clear identification of non-compliance, overtreatment, or treatment goals. To provide optimal care, clinicians should have a complete understanding of these limitations and counterbalance them with a thorough clinical assessment. The aim of this review is to provide clinicians with practical tools and suggestions which may answer doubts that can arise during chronic management of patients with hepatic WD. In particular, it summarises current knowledge on Wilson’s disease clinical and biochemical monitoring and treatment. It also analyses available evidence on pregnancy and the role of low-copper diet in WD. Future research should focus on trying to provide new copper metabolism tests which could help to guide treatment adjustments.  相似文献   
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Bone marrow failure (BMF) related to hypoplasia of hematopoietic elements in the bone marrow is a heterogeneous clinical entity with a broad differential diagnosis including both inherited and acquired causes. Accurate diagnostic categorization is critical to optimal patient care and detection of genomic variants in these patients may provide this important diagnostic and prognostic information. We performed real-time, accredited (ISO15189) comprehensive genomic characterization including targeted sequencing and whole exome sequencing in 115 patients with BMF syndromes (median age 24 years, range: 3 months - 81 years). In patients with clinical diagnoses of inherited BMF syndromes, acquired BMF syndromes or clinically unclassifiable BMF we detected variants in 52% (12 of 23), 53% (25 of 47) and 56% (25 of 45) respectively. Genomic characterization resulted in a change of diagnosis in 30 of 115 (26%) including the identification of germline causes for 3 of 47 and 16 of 45 cases with pre-test diagnoses of acquired and clinically unclassifiable BMF respectively. The observed clinical impact of accurate diagnostic categorization included choice to perform allogeneic stem cell transplantation, disease-specific targeted treatments, identification of at-risk family members and influence of sibling allogeneic stem cell donor choice. Multiple novel pathogenic variants and copy number changes were identified in our cohort including in TERT, FANCA, RPS7 and SAMD9. Whole exome sequence analysis facilitated the identification of variants in two genes not typically associated with a primary clinical manifestation of BMF but also demonstrated reduced sensitivity for detecting low level acquired variants. In conclusion, genomic characterization can improve diagnostic categorization of patients presenting with hypoplastic BMF syndromes and should be routinely performed in this group of patients.  相似文献   
6.

Objective

To determine whether differences in combination DTaP vaccine types at 2, 4 and 6?months of age were associated with mortality (all-cause or non-specific), within 30?days of vaccination.

Design

Observational nationwide cohort study.

Setting

Linked population data from the Australian Childhood Immunisation Register and National Death Index.

Participants

Australian infants administered a combination trivalent, quadrivalent or hexavalent DTaP vaccine (DTaP types) between January 1999 and December 2010 at 2, 4 and 6?months as part of the primary vaccination series. The study population included 2.9, 2.6, & 2.3?million children in the 2, 4 and 6?month vaccine cohorts, respectively.

Main outcome measures

Infants were evaluated for the primary outcome of all-cause mortality within 30?days. A secondary outcome was non-specific mortality (unknown cause of death) within 30?days of vaccination. Non-specific mortality was defined as underlying or other cause of death codes, R95 ‘Sudden infant death syndrome’, R96 ‘Other sudden death, cause unknown’, R98 ‘Unattended death’, R99 ‘Other ill-defined and unspecified cause of mortality’ or where no cause of death was recorded.

Results

The rate of 30?day all-cause mortality was low and declined from 127.4 to 59.3 deaths per 100,000 person-years between 2 and 6?month cohorts. When compared with trivalent DTaP vaccines, no elevated risk in all-cause or non-specific mortality was seen with any quadrivalent or hexavalent DTaP vaccines, for any cohort.

Conclusion

Use of routine DTaP combination vaccines with differing disease antigens administered during the first six months of life is not associated with infant mortality.  相似文献   
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Background: Symbol communication aids are used by children with little or no intelligible speech as an Augmentative and Alternative Communication strategy. Graphic symbols are used to help support understanding of language and used in symbol communication aids to support expressive communication. The decision making related to the selection of a symbol communication aid for a child is poorly understood and little is known about what language and communication attributes are considered in this selection.

Aim: To identify from the literature the language or communication attributes of graphic symbol communication aids that currently influence AAC practice.

Method and Procedure: A search strategy was developed and searches were performed on a range of electronic databases for papers published since 1970. Quality appraisal was carried out using the CCAT tool and papers rated as weak were not included in the review.

Results: Eleven studies were included in the review reporting data from 66 participants. Weaknesses were identified in most studies that would limit the validity of the results for application to practice. Included studies investigated aspects of vocabulary organization and design, the process of vocabulary selection, and the choice of the symbol system and encoding method. Two studies also evaluated innovative communication aid attributes.

Conclusions: Information from studies reported in the research literature provides a sparse source of information about symbol communication aids from which clinicians, children or family members may make informed decisions.
  • Implications for Rehabilitation
  • This review is the first to systematically appraise the literature to answer the question what evidence exists to inform clinical decision making in relation to the language or communication attributes of graphic symbol based communication aids? The review establishes that there is a paucity of evidence from studies and that these decisions must thus be based on other information and factors.

  • The review does establish a small number of language or communication attributes of symbol communication aids, but no synthesis of the results of these studies was possible. This review thus suggests that vocabulary design and organization, symbol system and encoding method, and the choice of vocabulary selection method are attributes that clinicians may carefully review in order to inform decisions.

  • Clinicians encountering symbol vocabulary packages claiming to be ‘evidence based’ should query the nature of this evidence.

  • The rehabilitation research community should debate and develop appropriate research designs that will facilitate future robust studies investigating the effect of specific language or communication attributes of communication aids.

  相似文献   
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