Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 6 de 6
Filter
1.
Neurol Sci ; 45(6): 2859-2867, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38261153

ABSTRACT

BACKGROUND: Variant transthyretin amyloidosis (ATTRv) can cause sensorimotor and autonomic neuropathy. Objective quantification of sudomotor function may be essential for early diagnosis and early initiation of treatment. The aim of this study is to evaluate the diagnostic value of the Sudoscan® in ATTRv. METHODS: Electrochemical skin conductance (ESC) was measured in V30M ATTRv patients, asymtomatic V30M carriers and healthy controls. Comparisons between the three groups were made using the Kruskal-Wallis test, and ROC curves were used to estimate the discriminatory power of ESC values between groups. RESULTS: ESC was measured in 52 ATTRv patients, 107 asymptomatic carriers and 40 healthy controls. ESC was significantly lower in ATTRv patients compared to asymptomatic carriers and healthy controls in both feet and hands; median values are as follows: 40 µS, 78 µS and 81 µS, respectively (p < 0.001), and 53 µS, 69 µS and 74 µS, respectively (p < 0.001). ESC in feet < 70.5 µS had a sensitivity of 89.7% and specificity of 84.6% to discriminate asymptomatic carriers from patients with ATTRv. CONCLUSION: The determination of ESC by Sudoscan® is a rapid, noninvasive and easily reproducible technique capable of discriminating patients with ATTRv from asymptomatic carriers and healthy controls with adequate sensitivity and specificity.


Subject(s)
Amyloid Neuropathies, Familial , Galvanic Skin Response , Humans , Male , Female , Amyloid Neuropathies, Familial/diagnosis , Middle Aged , Aged , Galvanic Skin Response/physiology , Sensitivity and Specificity , Adult , Prealbumin , Hand/physiopathology , Foot/physiopathology
2.
Orphanet J Rare Dis ; 16(1): 266, 2021 06 10.
Article in English | MEDLINE | ID: mdl-34112225

ABSTRACT

BACKGROUND: Hereditary transthyretin (TTR) amyloidosis (ATTRv) is a heterogeneous disease with a clinical presentation that varies according to geographical area and TTR mutation. The symptoms of Val50Met-ATTRv are mainly neuropathic and progress to complete disability and death in most untreated patients within 10 to 15 years of diagnosis. The neurological effects may also be accompanied by gastrointestinal impairment, cardiomyopathy, nephropathy and/or ocular deposition. The disease is thus associated with a high degree of patient disability. Accordingly, we aimed to describe the psychosocial burden associated with ATTRv in a group of patients, asymptomatic Val50Met carriers, relatives and caregivers in the endemic focus of the disease in Majorca via a survey addressing various aspects related to psychosocial burden. We performed a an observational, descriptive, cross-sectional and multicentre study in order to analyze the prevalence of self-reported impact of ATTRv disease upon their daily life. In addition to the self-knowledge, fear and burden related to the disease. The survey was disseminated during the regular follow up at the outpatient clinic of the Hospital Universitario Son Llàtzer and during the meetings organized by the Andrade's Disease patients' advocacy group from the Balearic Islands. These meetings were attended also by subjects followed up by the Hospital Universitario Son Espases and their caregivers and relatives. Survey was self-administrated. No intervention was done by the investigators. 85 subjects completed the survey: 61 carrying the TTR-V50M variant and 24 caregivers or relatives. RESULTS: Our study revealed that, although most of the population studied had had prior contact with ATTRv through affected relatives, there was still a lack of information regarding disease diagnosis. Fear of the genetic test result and psychological issues were common in our population. Moreover, the disease had a stronger impact on the daily life of our patients than that of our asymptomatic carriers. Autonomic symptoms were the main source of burden for relatives and caregivers. CONCLUSION: Our survey results show high psychosocial burden associated with Val50Met-ATTRv in our area.


Subject(s)
Amyloid Neuropathies, Familial , Cross-Sectional Studies , Humans , Prealbumin , Spain
6.
J Am Soc Echocardiogr ; 24(6): 706.e1-3, 2011 Jun.
Article in English | MEDLINE | ID: mdl-20833506

ABSTRACT

The authors describe the case of a 54-year-old woman with the association of two rare congenital cardiac anomalies: cor triatriatum and persistent left superior vena cava with the special characteristic of direct drainage to the right atrium. Real-time three-dimensional transesophageal echocardiography offered a comprehensive anatomic and functional evaluation of these infrequent entities.


Subject(s)
Cor Triatriatum/diagnostic imaging , Echocardiography, Three-Dimensional/methods , Echocardiography, Transesophageal/methods , Vena Cava, Superior/abnormalities , Vena Cava, Superior/diagnostic imaging , Female , Humans , Middle Aged
SELECTION OF CITATIONS
SEARCH DETAIL
...