ABSTRACT
AIMS: Wolfram syndrome, also known as DIDMOAD, is a relatively rare inherited neurodegenerative disorder, first evident in childhood as an association of juvenile-onset diabetes mellitus and optic atrophy, followed by diabetes insipidus and deafness. The aim of the study was to examine the clinical profile of patients with DIDMOAD syndrome presenting to a tertiary care hospital in north India. METHODS: Clinical presentation of juvenile-onset diabetes mellitus fulfilling the diagnosis of Wolfram syndrome was studied using a prepared standardized form. RESULTS: Subjects with juvenile-onset non-autoimmune diabetes mellitus attending the diabetic clinic at a tertiary care centre in north India were followed for 10 years and a diagnosis of fully developed Wolfram syndrome was confirmed in seven individuals. The series consisted of five male and two female patients with a mean age of 17.5 ±7.34 years. Two subjects had consanguinity and none had any other family member affected. Optic atrophy was present in all, sensorineural hearing loss in 4/7, central diabetes insipidus in 4/7 and nephrogenic diabetes insipidus in 2/7 subjects. The new associations found were: spastic myoclonus, short stature with pancreatic malabsorption, nephrogenic diabetes insipidus, cyanotic heart disease and choledocholithiasis with cholangitis. Genetic analysis revealed mutation in exon 8 of the WFS1 gene in all the cases studied. CONCLUSIONS: The present clinical series of Wolfram syndrome reveals a varied clinical presentation of the syndrome and some new associations.
Subject(s)
Hearing Loss, Sensorineural/diagnosis , Membrane Proteins/genetics , Mutation , Optic Atrophy/diagnosis , Wolfram Syndrome/diagnosis , Adolescent , Adult , Base Sequence , Child , Cholangitis/diagnosis , Choledocholithiasis/diagnosis , Consanguinity , DNA Mutational Analysis , Female , Growth Disorders/diagnosis , Hearing Loss, Sensorineural/epidemiology , Hearing Loss, Sensorineural/genetics , Humans , India/epidemiology , Magnetic Resonance Imaging , Malabsorption Syndromes/diagnosis , Male , Myoclonus/diagnosis , Optic Atrophy/epidemiology , Optic Atrophy/genetics , Pedigree , Wolfram Syndrome/epidemiology , Wolfram Syndrome/genetics , Young AdultABSTRACT
BACKGROUND: Depression and anxiety are common after diagnosis of breast cancer. We examined to what extent these are recurrences of previous disorder and, controlling for this, whether shame, self-blame and low social support after diagnosis predicted onset of depression and anxiety subsequently. METHOD: Women with primary breast cancer who had been treated surgically self-reported shame, self-blame, social support and emotional distress post-operatively. Psychiatric interview 12 months later identified those with adult lifetime episodes of major depression (MD) or generalized anxiety disorder (GAD) before diagnosis and onset over the subsequent year. Statistical analysis examined predictors of each disorder in that year. RESULTS: Of the patients, two-thirds with episodes of MD and 40% with episodes of GAD during the year after diagnosis were experiencing recurrence of previous disorder. Although low social support, self-blame and shame were each associated with both MD and GAD after diagnosis, they did not mediate the relationship of disorder after diagnosis with previous disorder. Low social support, but not shame or self-blame, predicted recurrence after controlling for previous disorder. CONCLUSIONS: Anxiety and depression during the first year after diagnosis of breast cancer are often the recurrence of previous disorder. In predicting disorder following diagnosis, self-blame and shame are merely markers of previous disorder. Low social support is an independent predictor and therefore may have a causal role.
Subject(s)
Anxiety Disorders/complications , Anxiety Disorders/psychology , Breast Neoplasms/complications , Breast Neoplasms/psychology , Depressive Disorder, Major/complications , Depressive Disorder, Major/psychology , Female , Humans , Interview, Psychological , Middle Aged , Prospective Studies , Psychotherapy , Risk Factors , Self Concept , Shame , Social Support , Stress, Psychological/complications , Stress, Psychological/psychologyABSTRACT
Using a population-based cohort from 10 general practices in East Dorset, the mortality rate of diabetic patients compared to non-diabetic controls was investigated during 8 years follow-up. From a total population of 90660, 917 diabetic patients were identified; 693 (75%) with non-insulin-dependent (Type 2) diabetes and 224 (25%) with insulin-dependent (Type 1) diabetes. A control group of 917 non-diabetic subjects were selected, matched by age and sex. After 8 years, significantly more diabetic patients (334 or 36.4%) had died than controls (219 or 24%), (odds ratio (OR) 1.99, 95% CI 1.60-2.47). Compared with the controls, the odds ratio of all causes of mortality for diabetic men was 1.89 (CI 1.4-2.54) and for diabetic women 2.16 (CI 1.57-2.96). Compared with controls, the odds ratio for mortality from circulatory disease was significantly increased for diabetic patients 2.0 (CI 1.5-2.6) but mortality for respiratory disease or neoplasms was not significantly different (OR 0.7, CI 0.4-1.2 and OR 0.7, CI 0.6-1.0, respectively). Control data were lower than would be expected from national database data. The diabetic population had a significantly higher mortality than controls, both from all causes and circulatory diseases. Our data incidentally show the importance of appropriate controls for estimating the impact of a chronic disease.
