Risk factors for pressure sores in adult patients with myelomeningocele – a questionnaire-based study

BACKGROUND: Myelomeningocele (MMC) is a part of a complex neural tube defect and a disorder of the cerebrospinal fluid system. Pressure sores are a frequent complication for patients with MMC. Little is known about the risk factors for pressure sores in adults with MMC. The aim of this study was to investigate an association between the presence of pressure sores and other patient characteristics, in order to develop an improved strategy for the management of sores. METHODS: A structured questionnaire regarding sores, medical condition, function and living factors was designed and sent to the 193 patients with MMC registered in the year 2003 at TRS, a National Centre for Rare Disorders in Norway. RESULTS: Out of 193 total, 87 patients participated and 71 patients (82%) reported sores; 26 (30%) at the time of the interview and 45 (52%) during the last 5 years. Sores were mostly localized on toes and feet and occurred exclusively in regions with reduced or missing sensibility. A significant association was found between sores and memory deficit (p = 0.02), Arnold Chiari malformation (p = 0.02) and a record of previous sores (p = 0.004). Sores were not significantly associated with hydrocephalus, syringomyelia, nutrition, body mass index, smoking, physical activity, employment or living together with other persons. Some patients (18, 21%) reported skin inspection by others and the remainder relied on self-inspection. CONCLUSION: Patients with sensory deficit, memory problems, and Arnold Chiari malformation had a higher risk of having pressure sores. This patient group needs improved skin inspection routines and sore treatment

Experience-based VAS values for EQ-5D-3L health states in a national general population health survey in China

Purpose: To investigate the feasibility of deriving experience-based visual analogue scale (VAS) values for EQ-5D-3L health states using national general population health survey data in China. Methods: The EQ-5D-3L was included in the National Health Services Survey (n = 120,709, aged 15–103 years) to measure health-related quality of life. The respondents reported their current health status on a VAS and completed the EQ-5D-3L questionnaire, enabling modelling of the association between the experience-based VAS values and self-reported problems on EQ-5D dimensions and severity levels. Results: VAS values were generally negatively associated with problems reported on the EQ-5D dimensions, and the anxiety/depression dimension had the greatest impact on VAS values. A previously obtained value for dead allowed the values for all 243 EQ-5D-3L health states to be transformed to the 0–1 scale (0 = dead, 1 = full health). Conclusions: This study presents the feasibility of deriving an experience-based VAS values for EQ-5D-3L health states in China. The analysis of these VAS data raises more fundamental issues concerning the universal nature of the classification system and the extent to which Chinese respondents utilise the same concepts of health as defined by this classification system

Experience-based utility and own health state valuation for a health state classification system: why do it and how to do it

In the estimation of population value sets for health state classification systems such as the EQ-5D, there is increasing interest in asking respondents to value their own health state, sometimes referred to as "experienced-based utility values" or more correctly ownrather than hypothetical health states. Own health state values differ to hypothetical health state values, and this may be attributed to many reasons. This paper critically examines: whose values matter; why there is a difference between own and hypothetical values; how to measure own health state values; and why to use own health state values. Finally, the paper also examines other ways that own health state values can be taken into account, such as including the use of informed general population preferences that may better take into account experience-based values

Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome

Background Pathogenic mutations in FBN1, encoding the glycoprotein, fibrillin-1, cause Marfan syndrome (MFS) and related connective tissue disorders. In the present study, qualitative and quantitative effects of 16 mutations, identified in FBN1 in MFS patients with systematically described phenotypes, were investigated in vitro. Methods Qualitative analysis was performed with reverse transcription-PCR (RT-PCR) and gel electrophoresis, and quantitative analysis to determine the FBN1 mRNA levels in fibroblasts from the 16 patients with MFS was performed with real-time PCR. Results Qualitative analysis documented that the mutations c.4817-2delA and c.A4925G led to aberrant FBN1 mRNA splicing leading to in frame deletion of exon 39 and in exon 39, respectively. No difference in the mean FBN1 mRNA level was observed between the entire group of cases and controls, nor between the group of patients with missense mutations and controls. The mean expression levels associated with premature termination codon (PTC) and splice site mutations were significantly lower than the levels in patients with missense mutations. A high level of FBN1 mRNA in the patient with the missense mutation c.G2447T did not segregate with the mutation in three of his first degree relatives. No association was indicated between the FBN1 transcript level and specific phenotypic manifestations. Conclusions Abnormal FBN1 transcripts were indicated in fibroblasts from patients with the splice site mutation c.4817-2delA and the missense mutation c.A4925G. While the mean FBN1 mRNA expression level in fibroblasts from patients with splice site and PTC mutations were lower than the mean level in patients with missense mutations and controls, inter-individual variability was high. The observation that high level of FBN1 mRNA in the patient with the missense mutation c.G2447T did not segregate with the mutation in the family suggests that variable expression of the normal FBN1 allele may contribute to explain the variability in FBN1 mRNA level