IntroductionWith improvements in survival and disease progression in the era of combined antiretroviral therapy, complications such as kidney disease are becoming increasingly prevalent in HIV-infected patients. Tenofovir disoproxil fumarate (TDF) has been associated with nephrotoxicity, including decline in glomerular filtration rate, proximal tubular damage and acute kidney injury.ObjectiveCharacterize kidney safety of TDF-containing antiretroviral treatment (ART) regimens in HIV-infected patients.MethodsNon-controlled, observational, retrospective study was based on the clinical files registry of HIV patients who started TDF between January and December 2008. We assessed outpatients followed at a single Portuguese center. Demographic, clinical, virological and immunological data at baseline were collected. Serum creatinine, estimated glomerular filtration rate (eGFR) and creatinine clearance (CrCL) were assessed at baseline, after six months and every year up to four years. CrCL and eGFR were calculated by Cockroft–Gault and Modification of Diet in Renal Disease equations, respectively.ResultsA total of 176 patients (71.6% males) with a mean age of 43 years were enrolled. Ninety-six (52%) were ART-naive patients at TDF initiation. At baseline 12.5% had hypertension, 4% diabetes, 25% chronic hepatitis C and 9% chronic hepatitis B infections; 58% had normal renal function (eGFR ≥90 ml/min/1.73 m2), 36% had mild (eGFR 60-89 ml/min/1.73 m2) renal dysfunction and 2.3% had moderate (eGFR 30-59 ml/min/1.73 m2) renal dysfunction at initiation of TDF. Eighty-three (47%) patients were on protease inhibitors and the remaining on NNRTIs containing regimens. During 48 months follow-up, 5% experienced moderate renal dysfunction and 1.7% severe renal dysfunction. Twenty-one (12%) patients met the definition criteria of rapid decline of renal function (annual decline of eGFR ≥3 ml/min/1.73 m2 in two consecutive years). The development of kidney events was associated with age above 50 years, presence of comorbidities and advanced stage HIV infection (p>0.05 in univariate analysis).ConclusionsThese data reveal a favourable renal safety profile of TDF, during a four-year follow-up. Screening for kidney disease markers, regular follow-up and control and prevention of risk factors for renal failure are crucial for adequate management of HIV-infected patients.
Transthyretin-related familial amyloid polyneuropathy Val30Met is a fatal progressive disease. It is a rare hereditary amyloidosis, manifesting as a sensorimotor neuropathy and autonomic dysfunction. It begins during adulthood and is a disabling disease, posing a great psychological burden to patients and their families. Our aim was to describe and characterize life events related to the disease and discuss its psychosocial implications. Social and demographic data and a questionnaire on history of family and personal disease, and biographic events, were applied to 209 subjects attending an outpatient specialized clinic. Descriptive and statistical analyses were performed. They were 84 men and 127 women belonging to three groups: pre-symptomatic carriers, patients, and subjects with no established diagnosis. Most subjects were married/lived with a partner and had children (mean of 4). Most (96.3%) had contact with the disease before having a diagnosis; the affected or at-risk parent was the mother in 53.8% and the father in 43.3%; 71.8% of these had deceased. At their parent's death, many subjects were aged under 10 (9.9%), 10-14 (15.5%), or 15-24 years (31.7%). Most were under age 14 (44.9%) at their parent's disease onset; 37.2% referred this brought life changes with psychological and familial impact; most had been parent's caregivers; 7.5% had not been raised by the parents. Some (8.4%) declined to know their genetic tests results for over 1 year. Parent's disease and death are very common early in these patient's lives. During childhood or youth, many subjects became caregivers, implying changes in family roles. This disease and its life implications pose a significant psychosocial burden since childhood. TTR-FAP patients and their relatives are highly vulnerable to emotional stress and psychopathology during their lifetime. Psychological and psychiatric support, implying a multidisciplinary group, must thus be available for all of them.
Results point to an important vulnerability of this population for psychological distress and psychiatric disease. Early life events related to disease, being sick and sex are associated with psychopathological distress.
ObjectiveThis study aimed to determine the cutoff and the specificity and sensitivity of the Emotion Thermometers (ET) in a Portuguese sample of cancer patients.MethodA total of 147 patients (mean age = 49.2; SD = 12.6) completed the ET, the Brief Symptom Inventory (BSI), and the Subjective Experiences of Illness Suffering Inventory. Data were collected in a cancer support institution and in a major hospital in the North of Portugal.ResultThe optimal cutoff for the Anxiety Thermometer was 5v6 (until 5 and 6 or more), which identified 74% of the BSI-anxiety cases and 70% of noncases. The Depression Thermometer cutoff was 4v5 (until 4 and 5 or more), which identified 85% of BSI-depression cases and 82% of noncases. Cutoff for the Anger Thermometer was 4v5 (until 4 and 5 or more), which identified 83% of BSI-hostility cases and 73% of noncases; for the Distress Thermometer, the optimal cutoff was 4v5 (until 4 and 5 or more), which identified 84% of the suffering cases and 73% of noncases. Finally, for the Help Thermometer, it was 3v4 (until 3 and 4 or more), which helped to identify 93% of the suffering cases and 64% of noncases.Significance of resultsResults supported the Portuguese version of the ET as an important screening tool for identifying the emotional distress in cancer patients.
Adult-onset, chronic, genetic diseases like transthyretin-related familial amyloid polyneuropathy Val30Met (TTR-FAP Val30Met), have a major psychosocial impact not only on patients, but also on families. Genetic risk may therefore be an increased factor in psychosocial impact of the disease on these families' functioning. To evaluate impact of genetic risk, a study was conducted to perceive the impact of the illness on families' functioning. Groups of TTR-FAP Val30Met patients, pre-symptomatic carriers, partners and patients with multiple sclerosis (MS), a non-hereditary disease, were studied. Sample included 190 adults: 87 patients and 28 pre-symptomatic carriers for TTR-FAP Val30Met, 41 partners and 34 patients with MS. Family Adaptability and Cohesion Scale IV (FACES IV) and a social-demographic questionnaire were applied. No significant differences were observed between patients and pre-symptomatic carriers and both these and their partners regarding cohesion and flexibility. MS patients scored significantly higher in median scores for balanced scales. Satisfaction and communication levels were also lower in patients with TTR-FAP Val30Met than with MS. Family functioning was perceived as balanced by most TTR-FAP Val30Met patients and pre-symptomatic carriers. These families may be considered as mostly healthy. Difficulties in family communication should be taken into account when caring for these families.
Background: Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a fatal, chronic, progressive disease. It is a rare hereditary amyloidosis, which manifests as a sensorimotor neuropathy and autonomic dysfunction. It begins during adulthood. Aims and Methods: Our aim is to evaluate psychopathological dimensions in a population attending a consultation center for TTR-FAP. Two hundred and nine subjects (symptomatic and asymptomatic carriers), 84 men and 127, women participated in the study. Most subjects were married (67.1%) and most of them were still working; 33% were retired from work or on a sick leave. A sociodemographic questionnaire and The Brief Symptom Inventory (BSI) were applied. Statistical analysis was performed (descriptive analysis, Mann-Whitney, Wilcoxon, and Spearman tests). Results: The Global Symptom Index (GSI) was significantly higher in patients (p = 0.001). Considering GSI, 32.7% of total subjects were above the median for general population. When subgroups were evaluated, 25.6% of symptomatic carriers, 26.3% of subjects without established diagnosis, and 39.1% of patients were above median. GSI was significantly higher in patients (p = 0.001). Some BSI dimensions were also significantly higher in the patient group (somatization, depression, anxiety, and psychoticism) when compared with carriers. Women scored higher than men. Sick women scored higher for all dimensions except somatization. Asymptomatic carriers scored statistically higher for phobic anxiety (p = 0.01), interpersonal sensitivity, anxiety, and depression. In patients, most dimensions and GSI (rho = 0.33, p = 0.002) had positive correlations with years of disease. Conclusions: TTR-FAP patients and carriers are a very vulnerable group for psychological distress and psychopathological problems. Women and patients are at higher risk.
A surdez autoimune é uma entidade clínica rara, representando geralmente um desafio diagnóstico, correspondendo muitas vezes à manifestação inicial de um distúrbio autoimune sistémico. Caracteriza-se pela presença de hipoacusia neurossensorial, bilateral e assimétrica de instalação progressiva durante semanas a meses. Em 50% dos casos, associado à surdez, verifica-se a presença de sintomas vestibulares, acufenos ou plenitude auricular. Dada a ausência de testes específicos que permitam a realização de um diagnóstico definitivo, este é baseado na suspeita clínica e na resposta ao tratamento com terapia imunossupressora. O diagnóstico diferencial é realizado através de uma história clínica detalhada com exame objetivo completo, bem como exames audiométricos, laboratoriais e imagiológicos de modo a excluir outras etiologias de surdez neurossensorial. A raridade desta doença, o grande espectro de manifestações clínicas, a ausência de estudos randomizados que demonstrem a eficácia do tratamento, bem como a ausência de resultados a longo prazo, fazem desta doença um desafio. Com este artigo os autores pretendem realizar uma revisão do tema de modo a facilitar a identificação precoce desta patologia e permitir a instituição adequada de tratamento.
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