Measuring quality of life from the point of view of HIV-positive subjects: the HIV-QL31

Assessment of the quality of life (QoL) of human immunodeficiency virus (HIV)-infected subjects is often based on questionnaires in which the items or questions are not seen to be relevant by patients, nor by the users of the data obtained. It therefore seemed appropriate to return to the issue. The methodological and bibliographical research as well as the consultations we conducted convinced us that the elaboration of a new questionnaire was both necessary and possible. In order to do so, we adopted methodological principles based on the Sickness Impact Profile development methodology. First a bibliographical research was conducted in order to study instruments already used for HIV infection. Then, experts concerned with HIV infection and members of patients' associations were interviewed to assess how opportune the development of a new instrument could be. Following this, a methodology was established for the design and construction of the new instrument. One hundred and eighteen candidate questions were generated from an analysis of the content of 20 patients' interviews, which were subsequently submitted to 102 patients, to obtain finally a set of 31 questions from the interpretation of the results obtained from classic psychometric analysis and also from non-classic methods (item response theory and Rasch model). The concept being measured is the impact of illness being experienced by HIV-infected subjects from their own perspective. The range of health states covered by this questionnaire relates to fairly mild conditions. Rasch analysis of this set of 31 questions (HIV-QL31) shows that it corresponds to one unidimensional construct. A single score can be calculated by simple summation of dichotomous response options. This score is highly reliable (Cronbach's coefficient = 0.93) and is also discriminant regarding the severity of clinical status.     

Mitral stenosis obscuring the diagnosis of plexogenic pulmonary arteriopathy and familial pulmonary hypertension

A patient who died after surgery for critical mitral stenosis was found to have underlying unrecognised plexogenic pulmonary arteriopathy and familial pulmonary hypertension. The importance of recognising familial pulmonary hypertension is discussed, together with the contribution of genetic and other risk factors to plexogenic pulmonary arteriopathy.     

Managing depression in patients with vision impairment: A descriptive study of practitioners' beliefs and confidence

Aim: Depression is common in older adults with vision impairment yet it often remains unidentified and untreated. Eye health professionals (EHPs) and rehabilitation workers (RWs) may be able to assist in detecting depression. This study identified EHPs' and RWs' beliefs about depression and confidence in working with patients with vision impairment and depression. Methods: A self‐administered cross‐sectional survey of 94 EHPs and RWs assessed beliefs about the symptoms and treatment for depression, and confidence in working with depressed people with vision impairment. Results: Participants showed awareness of both the symptoms and treatment options for depression. However, some important misconceptions were identified and many symptoms of depression were commonly attributed to vision loss. Participants lacked confidence in communicating about depression with patients and their families. Conclusions: Training programs are needed to enable EHPs and RWs to confidently identify depression and discuss appropriate treatment and referral options with their patients.     

Possible role of CYP2B6 genetic polymorphisms in ifosfamide‐induced encephalopathy: report of three cases

Ifosfamide (IFA) is a potent alkylating antitumoral agent, but its use is limited by neurological side effects. IFA is a racemic mixture of two enantiomeric forms, R‐IFA and S‐IFA with a stereoselective metabolism by CYP3A4 and CYP2B6, leading either to bioactive or to toxic pathways. In three consecutive cases of pediatric patients who exhibited IFA‐induced encephalopathy (IIE), genotyping of clinically relevant single‐nucleotide polymorphisms associated with decreased CYP3A4 and CYP2B6 activities was performed. Genetic investigations revealed the presence of CYP2B6 rs4803419 (C>T) in one patient while the two others carried the CYP2B6*6 allelic variant. All patients carried CYP3A4 wild‐type genotype (CYP3A4*1/*1). Because CYP2B6‐deficient alleles may be responsible for an increased conversion of S‐IFA into neurotoxic metabolites, screening for CYP2B6 polymorphisms may help to avoid IIE and improve clinical outcomes.     

The relationship between lower body strength and obstructed gait in community-dwelling older adults

OBJECTIVES: To determine the relationship between lower body strength of community-dwelling older adults and the time to negotiate obstructed gait tasks. DESIGN: A correlational study. SETTING: The Biomechanics Laboratory, Deakin University, Australia. PARTICIPANTS: Twenty-nine women and 16 men aged 62 to 88 were recruited using advertisements placed in local newspapers. The participants were independent community dwellers, healthy and functionally mobile. MEASUREMENTS: Maximal isometric strength of the knee extensors and dynamic strength of the hip extensors, hip flexors, hip adductors, hip abductors, knee extensors, knee flexors, and ankle plantar flexors were assessed. The times to negotiate four obstructed gait tasks at three progressively challenging levels on an obstacle course and to complete the course were recorded. The relationship between strength and the crossing times was explored using linear regression models. RESULTS: Significant associations between the seven strength measures and the times to negotiate each gait task and to walk the entire course at each level were obtained (r = -0.38 to -0.55; P < .05). In addition, the percentage of the variance explained by strength (R(2)), consistently increased as a function of the progressively challenging level. This increase was particularly marked for the stepping over task (R(2) = 19.3%, 25.0%, and 27.2%, for levels 1, 2, and 3, respectively) and the raised surface condition (R2 = 17.1%, 21.1%, and 30.8%, for levels 1, 2, and 3, respectively). CONCLUSION: The findings of the study showed that strength is a critical requirement for obstructed locomotion. That the magnitude of the association increased as a function of the challenging levels suggests that intervention programs aimed at improving strength would potentially be effective in helping community-dwelling older adults negotiate environmental gait challenges.     

Retinal microvascular calibre and risk of incident diabetes: the multi-ethnic study of atherosclerosis

Aim

To prospectively examine the association of retinal microvascular signs with incident diabetes and impaired fasting glucose (IFG) in a multi-ethnic population-based cohort.

Methods

The multi-ethnic study of atherosclerosis comprised Caucasians, African-Americans, Hispanics and Chinese aged 45-84 years. Retinal vascular calibre and retinopathy were quantified from baseline retinal photographs. Incident diabetes and IFG were ascertained prospectively.

Results

After a median follow-up of 3 years, 243 (4.9%) people developed diabetes and 565 (15.0%) developed IFG. After adjusting for known risk factors, participants with wider retinal arteriolar calibre had a higher risk of developing diabetes [HR: 1.60; 95% CI: 1.12-2.29, p = 0.011 comparing highest with lowest arteriolar calibre tertile]. In ethnic subgroup analysis, the association between wider retinal arteriolar calibre and incident diabetes was stronger and statistically significant only in Caucasians [HR: 2.78; 95% CI: 1.37-5.62, p = 0.005]. Retinal venular calibre and retinopathy signs were not related to risk of diabetes or IFG.

Conclusion

Wider retinal arteriolar calibre is independently associated with an increased risk of diabetes, supporting a possible role for early arteriolar changes in diabetes development. This effect was largely seen in Caucasians, and not in other ethnic groups, and may reflect ethnic differences in susceptibility to diabetes from microvascular pathways.     

Alagille syndrome and Wilson disease in siblings: a diagnostic conundrum

The authors describe two siblings, each with a different, rare genetic condition that affects liver function. The index case, the 18-year-old asymptomatic brother of a young man recently diagnosed with Wilson disease, presented for Wilson disease screening and was also found to have abnormal liver function suggestive of cholestasis. However, ceruloplasmin level, 24 h urine copper concentration and liver synthetic function were normal. Further hepatic investigations and genetic mutation analysis were performed, ultimately leading to a diagnosis of Alagille syndrome. He was treated with ursodiol, which resulted in normalization of his liver function tests. Subsequently, he was found to be a carrier for a mutation in the Wilson disease gene, ATP7B. In the present report, the potential implications of being a heterozygote for Wilson disease in the context of Alagille syndrome are discussed. Also stressed is that care must be exercised by the clinician when diagnosing family members who may present with two different disorders closely mimicking one another.