Dataset Information

Epidemiology of uromodulin-associated kidney disease - results from a nation-wide survey.

ABSTRACT: BACKGROUND/AIMS:Uromodulin-associated kidney disease (UAKD) is caused by uromodulin mutations and leads to end-stage renal disease. Our objective was to examine the epidemiology of UAKD. METHODS:Data from all UAKD families in Austria were collected. Patients included in the Austrian Dialysis and Transplantation Registry (OEDTR) with unclear diagnoses or genetic diseases were asked whether they had (1) a family history of kidney disease or (2) had suffered from gout. Patients with gout and autosomal dominant renal disease underwent mutational analysis. Kaplan-Meier and Cox analysis was employed to estimate time to renal failure. RESULTS:Of the 6,210 patients in the OEDTR, 541 were approached with a questionnaire; 353 patients answered the questionnaire. Nineteen of them gave two affirmative answers. In 7 patients, an autosomal dominant renal disease was found; in 1 patient a UMOD mutation was identified. One family was diagnosed through increased awareness as a consequence of the study. At present, 14 UAKD patients from 5 families are living in Austria (1.67 cases per million), and 6 of them require renal replacement therapy (0.73 per 1,000 patients). Progression to renal failure was significantly associated with UMOD genotype. CONCLUSION:UAKD patients can be identified by a simple questionnaire. UMOD genotype may affect disease progression.

SUBMITTER: Lhotta K

PROVIDER: S-EPMC3383240 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature

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Epidemiology of uromodulin-associated kidney disease - results from a nation-wide survey.

Lhotta Karl K Piret Sian E SE Kramar Reinhard R Thakker Rajesh V RV Sunder-Plassmann Gere G Kotanko Peter P

Nephron extra 20120101 1

<h4>Background/aims</h4>Uromodulin-associated kidney disease (UAKD) is caused by uromodulin mutations and leads to end-stage renal disease. Our objective was to examine the epidemiology of UAKD.<h4>Methods</h4>Data from all UAKD families in Austria were collected. Patients included in the Austrian Dialysis and Transplantation Registry (OEDTR) with unclear diagnoses or genetic diseases were asked whether they had (1) a family history of kidney disease or (2) had suffered from gout. Patients with ...[more]

PMID: 22740033

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Project description:AimsThere are an estimated 1.5 million internally displaced persons (IDPs) in Ukraine because of the armed conflict in the east of the country. The aim of this paper is to examine utilisation patterns of mental health and psychosocial support (MHPSS) care among IDPs in Ukraine.MethodsA cross-sectional survey design was used. Data were collected from 2203 adult IDPs throughout Ukraine between March and May 2016. Data on mental health care utilisation were collected, along with outcomes including post-traumatic stress disorder (PTSD), depression and anxiety. Descriptive and multivariate regression analyses were used.ResultsPTSD prevalence was 32%, depression prevalence was 22%, and anxiety prevalence was 17%. Among those that likely required care (screened positive with one of the three disorders, and also self-reporting a problem) there was a large treatment gap, with 74% of respondents who likely required MHPSS care over the past 12 months not receiving it. For the 26% (N = 180) that had sought care, the most common sources of services/support were pharmacies, family or district doctor/paramedic (feldsher), neurologist at a polyclinic, internist/neurologist at a general hospital, psychologists visiting communities, and non-governmental organisations/volunteer mental health/psychosocial centres. Of the 180 respondents who did seek care, 163 could recall whether they had to pay for their care. Of these 163 respondents, 72 (44%) recalled paying for the care they received despite government care officially being free in Ukraine. The average costs they paid for care was US$107 over the previous 12 months. All 180 respondents reported having to pay for medicines and the average costs for medicines was US$109 over the previous 12 months. Among the 74% had not sought care despite likely needing it; the principal reasons for not seeking care were: thought that they would get better by using their own medications, could not afford to pay for health services or medications, no awareness of where to receive help, poor understanding by health care providers, poor quality of services, and stigma/embarrassment. The findings from multivariate regression analysis show the significant influence of a poor household economic situation on not accessing care.ConclusionsThe study highlights a high burden of mental disorders and large MHPSS treatment gap among IDPs in Ukraine. The findings support the need for a scaled-up, comprehensive and trauma-informed response to provision of MHPSS care of IDPs in Ukraine alongside broader health system strengthening.

Project description:The experience of post-amputation pain such as phantom limb pain (PLP) and residual limb pain (RLP), is a common consequence of limb amputation, and its presence has negative effects on a person's well-being. The continuity hypothesis of dreams suggests that the presence of such aversive experiences in the waking state should be reflected in dream content, with the recalled body representation reflecting a cognitive proxy of negative impact. In the present study, we epidemiologically assessed the presence of post-amputation pain and other amputation-related information as well as recalled body representation in dreams in a sample of 3,234 unilateral limb amputees. Data on the site and time of amputation, residual limb length, prosthesis use, lifetime prevalence of mental disorders, presence of post-amputation pain, and presence of non-painful phantom phenomena were included in logistic regression analyses using recalled body representation in dreams (impaired, intact, no memory) as dependent variable. The effects of age, sex, and frequency of dream recall were controlled for. About 22% of the subjects indicated that they were not able to remember their body representation in dreams, another 24% of the amputees recalled themselves as always intact, and only a minority of less than 3% recalled themselves as always impaired. Almost 35% of the amputees dreamed of themselves in a mixed fashion. We found that lower-limb amputation as well as the presence of PLP and RLP was positively associated with the recall of an impaired body representation in dreams. The presence of non-painful phantom phenomena, however, had no influence. These results complement previous findings and indicate complex interactions of physical body appearance and mental body representation, probably modulated by distress in the waking state. The findings are discussed against the background of alterations in cognitive processes after amputation and hypotheses suggesting an innate body model.

Dataset Information

Epidemiology of uromodulin-associated kidney disease - results from a nation-wide survey.

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Epidemiology of uromodulin-associated kidney disease - results from a nation-wide survey.

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