Patient-reported outcomes in Gaucher's disease: a systematic review.

BACKGROUND: Gaucher's disease (GD), a rare condition, represents the most common lysosomal storage disorder. The cardinal manifestations of GD are fatigue, hepatosplenomegaly, anemia, thrombocytopenia, bone pain, and bone infarction, thereby culminating in a marked deterioration of patients' quality of life (QoL). Patient-reported outcomes (PROs) offer valuable insights into the impact of GD on patients' QoL and symptoms. This systematic review aimed to identify and analyze PROs and outcome measures in GD patients. METHODS: We systematically searched PubMed, Web of Science Core Collections, EMBASE, SCOPUS, Cochrane Library, PsycINFO, Wan Fang Data, China National Knowledge Infrastructure (CNKI), and the Chinese Biomedical Literature Database (CBM). The methodological quality of the included studies was assessed using a mixed methods assessment tool. RESULTS: A total of 33 studies were identified, encompassing 24 distinct patient-reported outcome instruments, with the most frequently employed instrument being the SF-36. The study designs included eighteen cross-sectional studies, seven pre- and post-intervention investigations, three randomized controlled trials, two cohort studies, two qualitative inquiries, and one validation study. These studies explored diverse domains such as the QoL and cardinal symptoms (e.g., fatigue, pain, bleeding, cognition, social relationships, and psychological functioning) in patients with GD. Furthermore, significant attention was directed towards the appraisal of the therapeutic benefits of various interventions in patients with GD. A novel GD-specific instrument has also been developed, which has two applied versions: a 24-item variant for routine clinical monitoring and a 17-item form for use in clinical trials. CONCLUSION: PROs have garnered increased attention and concern in the realm of GD. Despite this progress, it is noteworthy that the instruments used to measure PROs in GD are still predominantly generic instruments. While researchers have endeavored to develop and validate a disease-specific instrument, currently the use of this instrument is limited. Owing to several challenges, including the small number of patients, heterogeneity of the disease, and cross-regional discrepancies in study findings, GD poses substantial difficulties in the measurement of QoL and development of instruments. Consequently, patients with GD require more dependable measurement instruments that accurately reflect their QoL, efficacy of treatment, and facilitate healthcare decision-making.

Reasons for Laser in Situ Keratomileusis in China: A Qualitative Study.

SIGNIFICANCE: Myopia is a major health issue in East Asian countries, especially in China. By identifying Chinese patients' motivations for laser in situ keratomileusis (LASIK) surgery, our results are expected to help clinicians counsel patients before LASIK surgery and to maximize patients' post-operative LASIK surgery satisfaction, improving the quality of LASIK surgery services. PURPOSE: Laser in situ keratomileusis has become a popular type of refractive surgery for the correction of myopia worldwide. This study uses qualitative inquiry approaches to understand the motives and processes of patients' LASIK surgery decision making. METHODS: A purposive sample of 45 patients who had decided to undergo LASIK was recruited. Our qualitative study used in-depth interviews and used content analysis to interpret the data. RESULTS: Among 45 participants, 48.9% reported that career requirements were the most important reason for seeking LASIK surgery. The inconvenience of wearing glasses or lenses during activities of daily life was also a primary motive. Improving facial appearance was a main reason for female but not male respondents. Potential complications of spectacles and contact lenses in addition to maturation of LASIK technology were also reported motives to seek surgery. Participants gave multiple, overlapping reasons for LASIK surgery. CONCLUSIONS: These findings suggest that motives to seek LASIK surgery are not only a desire to correct refractive error but also social factors and confidence in improved surgical technology. The implications for clinicians are to be aware of these multiple motives for LASIK to improve the quality and effectiveness of health services for myopia patients.

Genetic polymorphism of MTHFR C677T with preterm birth and low birth weight susceptibility: a meta-analysis.

PURPOSE: This study aimed at clarifying the association of maternal and neonatal methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms with preterm birth (PTB) and low birth weight (LBW) susceptibility, respectively. MATERIALS AND METHODS: A systematic search of Embase, Medline, China Biological Medicine Database (CBM), Chinese National Knowledge Infrastructure (CNKI), and Wanfang Database was performed before June, 2016. The frequencies of maternal and neonatal MTHFR C677T genotypes in the cases and controls and other information were extracted by two independent investigators. Odds ratios (ORs) with 95% confidence intervals (CIs) were adopted to estimate the relationships between MTHFR C677T polymorphisms and PTB as well as LBW by random or fixed effect models. RESULTS: Twenty-five studies from 20 articles concerning maternal and neonatal MTHFR C677T gene polymorphism with PTB and LBW were included in this study. Maternal MTHFR C677T polymorphism was associated with PTB risk under allele contrast (T vs. C, OR = 1.36, 95% CI 1.02-1.81), homozygote (TT vs. CC, OR = 1.70, 95% CI 1.07-2.68), and recessive (TT vs. CT + CC, OR = 1.49, 95% CI 1.00-2.22) model, but not dominant or heterozygote model. Maternal MTHFR C677T polymorphism was also associated with LBW risk under allele contrast (OR = 1.69, 95% CI 1.25-2.28), homozygote (OR = 2.26, 95% CI 1.44-3.54), dominant (OR = 1.71, 95% CI 1.19-2.47), recessive (OR = 1.79, 95% CI 1.42-2.26) model, but not heterozygote model. No associations between neonatal MTHFR C677T polymorphism and PTB or LBW were found under all genetic models. CONCLUSIONS: Identification of maternal MTHFR C677T mutation may play a key role for primary prevention of PTB as well as LBW and screening pregnant women of high risk in developing countries.