Cross-sectional and longitudinal construct validity of two rotator cuff disease-specific outcome measures

Background  

Disease-specific Quality Of Life (QOL) measures are devised to assess the impact of a specific disease across a spectrum of important domains of life. The purpose of this study was to examine the cross-sectional and longitudinal construct validity (sensitivity to change) of two rotator cuff disease-specific measures, the Rotator Cuff-Quality Of Life (RC-QOL) and the Western Ontario Rotator Cuff (WORC) index, in relation to one another and to other joint and limb specific measures in the same population of the patients suffering from rotator cuff pathology.     

Diversity of alpha-globin mutations and clinical presentation of alpha-thalassemia in Israel

Alpha-thalassemia is among the world's most common single gene disorders, caused primarily by gene deletions. In Israel, where alpha(o)-trait thalassemia is uncommon, it is of particular importance because of its phenotypic interactions with beta-thalassemia in hetero- and homozygotes. In a study of 232 individuals referred for molecular evaluation of anemia, 303 chromosomes carried alpha-globin gene abnormalities; 6 gene rearrangements and 11 point mutations were identified. This unexpected heterogeneity is in part due to the many ethnic subgroups represented by these patients. Our findings include nine unique Israeli alleles, 3 of which are described here for the first time. An equal number of point mutations was found in the alpha2-globin gene as compared to alpha1. A threonine deletion in codon 39 of the alpha1-globin gene, found frequently in Arabs, is unique to Israel and probably represents one of several indigenous alleles. Among Arabs, point mutations were more frequent than large deletions. Surprisingly, in Ashkenazi Jews, who resided for many centuries in a nonmalarial environment, a single alpha-globin gene deletion -alpha(3.7) was found in many cases. The clinical presentation of individuals carrying two or more alpha-globin lesions was highly variable. In general, the severity correlated inversely with the number of functional alpha-globin genes. In some cases, impairment of two alpha-globin genes by point mutations led to a thalassemia-intermedia-like picture which could be misdiagnosed as beta-thalassemia. We conclude that alpha-thalassemia is phenotypically and genotypically more heterogeneous than previously recognized. DNA analysis is invaluable as it provides a specific diagnosis and enables reliable genetic counseling.     

Carotid artery intima-media thickness and angiotensin-converting enzyme gene polymorphism in the offspring of parents with premature stroke

Aim: To determine some common cardiovascular risk factors, alterations in the measurements of intima-media thickness (IMT) and the distribution of the angiotensin-converting enzyme (ACE) polymorphism in children of parents with premature stroke, and to investigate the cardiovascular risk of these children and the potential need for some preventive measures.Methods: A family history of cardiovascular disease represents a cardiovascular risk factor in the offspring. This association has not yet been clearly determined for cerebrovascular accidents. New technology allows us to investigate the risk for cardiovascular disease at an early presymptomatic stage. We applied the measurement of IMT of carotid arteries by ultrasound imaging and the determination of the ACE insertion/deletion (I/D) polymorphism in blood to evaluate the predisposition for cerebrovascular disease in the offspring of patients with previous stroke. We investigated 58 subjects whose parents had experienced a cerebrovascular accident before the age of 45 y and compared them with a matched control group whose parents had not suffered a stroke. Results: The results of IMT at various sites of the carotid arteries and the genotype distribution of the ACE gene were not significantly different between the study group and the control group. In addition, no differences were found in the serum levels of lipid fractions or other biochemical variables.

Conclusion: We conclude that determination of the carotid IMT and of the ACE I/D polymorphism do not permit discrimination of the cardiovascular risk in children of parents with or without premature stroke.     

Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutation

Hypoxanthine phosphoribosyltransferase (HPRT) deficiency is an inherited disorder. Complete deficiency of HPRT activity is phenotypically expressed as the devastating Lesch–Nyhan syndrome. Partial HPRT deficiency usually causes hyperuricemia, precocious gout, and uric acid nephrolithiasis. We describe an 18-year follow-up of a 5-year old boy with partial HPRT deficiency and report a novel mutation in his HPRT gene. He presented with overproduction of uric acid and passage of uric acid renal stones, and without gout or neurological and behavioral abnormalities. Treatment with allopurinol, adequate hydration, urinary alkalization, and a low-purine diet was started. No subsequent nephrolithiasis has occurred. After 18-year of this therapy his physical and neuropsychological status were normal, merely his glomerular filtration rate (GFR, normal 97–137 mL min^–1/1.73 m²) fell from normal to 65.1 mL min^–1. The most likely cause of initial renal impairment in our patient is uric and/or xanthine crystalluria. A missense and transition mutation 169A>G (57ATG>GTG, 57met>val) in exon 3 of the patients HPRT gene was identified and the mother was the carrier of the mutation. As far as we are aware, the identified mutation has not previously been reported. We named the mutant HPRT Maribor.     

Inhibition of hepatic gluconeogenesis and enhanced glucose uptake contribute to the development of hypoglycemia in mice bearing interleukin-1beta- secreting tumor

Mice bearing IL-1beta-secreting tumor were used to study the chronic effect of IL-1beta on glucose metabolism. Mice were injected with syngeneic tumor cells transduced with the human IL-1beta gene. Serum IL-1beta levels increased exponentially with time. Secretion of IL-1beta from the developed tumors was associated with decreased food consumption, reduced body weight, and reduced blood glucose levels. Body composition analysis revealed that IL-1beta caused a significant loss in fat tissue without affecting lean body mass and water content. Hepatic phosphoenolpyruvate carboxykinase and glucose-6-phosphatase activities and mRNA levels of these enzymes were reduced, and 2-deoxy-glucose uptake by peripheral tissues was enhanced. mRNA levels of glucose transporters (Gluts) in the liver were determined by real-time PCR analysis. Glut-3 mRNA levels were up-regulated by IL-1beta. Glut-1 and Glut-4 mRNA levels in IL-1beta mice were similar to mRNA levels in pair-fed mice bearing nonsecreting tumor. mRNA level of Glut-2, the major Glut of the liver, was down-regulated by IL-1beta. We concluded that both decreased glucose production by the liver and enhanced glucose disposal lead to the development of hypoglycemia in mice bearing IL-1beta-secreting tumor. The observed changes in expression of hepatic Gluts that are not dependent on insulin may contribute to the increased glucose uptake.     

Holocaust survivors coping with open heart surgery decades later: posttraumatic symptoms and quality of life

OBJECTIVE: History of prolonged traumatization has been associated with reduced quality of life (QoL) and difficulties in coping with major life-threatening conditions. We assessed the association between the impact of Holocaust experience (posttraumatic symptoms) and QoL of patients before and after an open heart surgery. METHOD: Sixty-three Holocaust survivors were interviewed before open heart surgery (at admission), 52 at follow-up at 1 week, and 58 at follow-up at 6 months. The interview included background data, Impact of Event Scale (IES), Mastery scale, and QoL measured by the Nottingham Health Profile. Medical data were retrieved from the patients' charts. RESULTS: The total IES score indicate a high level of posttraumatic symptoms at all the time points (close to a mean of 18), but there was a clear trend of changes in the avoidance subscale: At admission, the patients manifested lower avoidance compared with the levels after the surgery and at the follow-up. No significant differences in IES were found by Holocaust experiences. Significant improvements in most components of QoL were found at the follow-up. In multivariate analyses at each time point, the findings show that those with higher levels of posttraumatic symptoms are more at risk for problems in pain and mobility domains of QoL at admission, for emotional reaction after the surgery, and at the follow-up, these associations are only at trend level, while lower sense of mastery became significant. CONCLUSIONS: The improvement in QoL despite persistence of the impact of the Holocaust may indicate that past severe prolonged traumatization does not necessarily reduce the survivors' ability to cope with and regain physical and psychosocial functioning after a severe life-threatening medical condition. This may be further generalized to other significant crisis situations in life, such as prolonged periods of stress, suffered by many populations throughout the world.     

Psychological distress among Thai migrant workers in Israel

The purpose of this cross-sectional study was to examine the associations between migration stressors and psychological distress among Thai migrant agricultural workers in Israel, and to examine the direct and indirect contribution of socio-cultural variables to this relationship. Two hundred and twenty-one Thai male workers were interviewed using a structured questionnaire that included demographic variables and occupational exposures to organophosphate pesticides (as control variables), migration stressors, intervening variables (traditional health beliefs, social support, drinking behavior, and utilization of medical services), and a psychological distress scale. In multivariate analysis, migration stressors, the migrants' traditional health beliefs, quality of current social relationships, drinking behavior, as well as age and occupational exposure were significantly associated with psychological distress. Workers who reported higher migration stressors (perceived the migration to be difficult, and often felt homesick), those with higher levels of traditional health beliefs, those whose social relationships with other Thai co-workers were poor, those who consumed either no alcohol or large amounts of alcohol, and those who reported 'problem drinking' had significantly higher levels of psychological distress. A moderating effect of the quality of social relationships with co-workers on the association between homesickness and psychological distress was found. Additionally, migrants aged 28-34 and those who were experiencing eye irritation from chemicals at work had significantly increased levels of distress. The findings demonstrate the focal role of specific migration stressors and the current socio-cultural context on psychological distress of migrant workers.