Publications by authors named "Conceicao I"
Importance: There is a lack of long-term efficacy and safety data on hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN) and on RNA interference (RNAi) therapeutics in general. This study presents the longest-term data to date on patisiran for hATTR-PN.
Objective: To present the long-term efficacy and safety of patisiran in adults with hATTR-PN.
Background: The NEURO-TTRansform trial showed that after 66 weeks of treatment, eplontersen significantly reduced neuropathic impairment and improved quality of life (QoL) in patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy (ATTRv-PN). In this secondary analysis from NEURO-TTRansform, autonomic impairment, and the impact of eplontersen on autonomic impairment progression was evaluated through 85 weeks in patients randomised to eplontersen ( = 144) versus external placebo ( = 60; through Week 66 from the NEURO-TTR trial).
Methods: Change from baseline in modified Neuropathy Impairment Score +7 (mNIS+7) composite score, Norfolk Quality of Life-Diabetic Neuropathy (Norfolk QoL-DN) total score, and the Neuropathy Symptoms and Change (NSC) total score was evaluated.
Background: The presence of potato cyst nematodes (PCN) causes a significant risk to potato crops globally, leading to reduced yields and economic losses. While the plant Solanum sisymbriifolium is known for its resistance to PCN and can be used as a trap crop, the molecular mechanisms behind this resistance remain poorly understood. In this study, genes differentially expressed were identified in control and infected plants during the early stages of the S.
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- * A case report details a 21-year-old woman with LEMS who initially improved with treatment but developed psychotic symptoms leading to steroid discontinuation and later experienced worsening health, including respiratory distress and difficulties with swallowing.
- * After undergoing plasmapheresis and starting rituximab, her muscle strength partially improved, but her psychiatric symptoms remained, indicating a potential separate psychiatric issue alongside her neuromuscular condition.
Article Synopsis
- * A study of 109 patients revealed a median diagnostic delay of 1262 days, with no significant differences noted over the decades in terms of delay.
- * The findings suggest a need for increased awareness among healthcare professionals about the diverse symptoms of ATTRv amyloidosis and the significance of family history in diagnosis.
Article Synopsis
- - The phase 3 NEURO-TTRansform trial demonstrated that eplontersen significantly reduced transthyretin (TTR) levels and halted the progression of neuropathy impairment in patients with hereditary TTR-mediated amyloidosis after 65 weeks of treatment.
- - The study involved patients initially receiving inotersen, who then switched to eplontersen, resulting in a greater reduction of TTR levels and stabilized quality of life and nutritional status during the eplontersen treatment.
- - Patients who switched to eplontersen experienced fewer treatment-emergent adverse events, restored platelet counts, and overall better tolerability, indicating a favorable benefit-risk profile for this treatment strategy. *
Early diagnosis in ATTRv amyloidosis, how early is enough? How early is possible?
Med Clin (Barc)
June 2024
Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is a rare, progressive, and debilitating genetic disorder characterized by the deposition of abnormal transthyretin (TTR) protein aggregates in various tissues, leading to organ dysfunction. Early diagnosis of ATTRv amyloidosis is critical for starting timely interventions and improving patient outcomes. This review explores the concepts of "how early is enough" and "how early is possible" in the context of diagnosing ATTRv amyloidosis, highlighting the challenges and opportunities for early recognition.
View Article and Find Full Text PDFIntroduction: Nusinersen was approved for 5q spinal muscular atrophy (SMA), irrespective of age, SMA type or functional status. Nonetheless, long-term data on adults with milder phenotypes are scarce. We aimed to characterize evolution on motor and respiratory function in our cohort of adults with type 3 SMA.
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- * In a study, patients were divided based on the severity of their neuropathy at the beginning, and results indicated that those starting vutrisiran earlier, particularly with less severe neuropathy, had better outcomes across multiple health measures after 18 months.
- * The analysis confirmed that vutrisiran helped improve neuropathy severity, quality of life, disability, gait speed, and nutritional status in patients, maintaining effectiveness regardless of their
Mass spectrometry (MS) is a powerful analytical technique that plays a central role in modern protein analysis and the study of proteostasis. In the field of advanced molecular technologies, MS-based proteomics has become a cornerstone that is making a significant impact in the post-genomic era and as precision medicine moves from the research laboratory to clinical practice. The global dissemination of COVID-19 has spurred collective efforts to develop effective diagnostics, vaccines, and therapeutic interventions.
View Article and Find Full Text PDFThe Brazilian scorpion Tityus melici, native to Minas Gerais and Bahia, is morphologically related to Tityus serrulatus, the most medically significant species in Brazil. Despite inhabiting scorpion-envenomation endemic regions, T. melici venom remains unexplored.
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- HELIOS-A was a Phase 3 study examining the effects of vutrisiran, an RNA interference therapy, on cardiac health in patients with hereditary transthyretin (ATTRv) amyloidosis with polyneuropathy.
- Patients were divided into two groups: one receiving vutrisiran every three months and another receiving the reference treatment, patisiran, every three weeks.
- Results indicated that vutrisiran was linked to a significant reduction in NT-proBNP levels and other positive changes in heart-related metrics without increasing cardiac adverse events compared to the external placebo.
Article Synopsis
- Hereditary transthyretin amyloidosis (ATTRv) can lead to complications like polyneuropathy and cardiomyopathy, with eplontersen being investigated for its effects on heart health.
- A study (NEURO-TTRansform) involved 144 participants with ATTRv, some of whom had cardiomyopathy, and found that eplontersen led to significant improvements in heart function compared to a historical placebo group.
- The results showed better left ventricular ejection fraction and stroke volume in the eplontersen group, prompting further research in the ongoing CARDIO-TTRansform trial.
The aetiology of anorexia nervosa (AN) presents a puzzle for researchers. Recent research has sought to understand the behavioural and neural mechanisms of these patients' persistent choice of calorie restriction. This scoping review aims to map the literature on the contribution of habit-based learning to food restriction in AN.
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- Transthyretin amyloidosis (ATTR amyloidosis) is a serious, progressive disease caused by the buildup of transthyretin amyloid fibrils in the body's tissues and organs, and can be hereditary or wild-type.* -
- The Transthyretin Amyloidosis Outcomes Survey (THAOS) is a major global study launched in 2007 that has tracked over 6,000 patients, including symptomatic patients and asymptomatic carriers, providing important data on the disease's characteristics.* -
- The recent analysis from THAOS revealed that most symptomatic patients are male, with a shift toward more mixed phenotypes and less predominantly cardiac phenotypes, highlighting the disease's complexity and variability among
Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive and fatal condition that requires early diagnosis, management, and specific treatment. The availability of new disease-modifying therapies has made successful treatment a reality. Transthyretin amyloid cardiomyopathy can be either age-related (wild-type form) or caused by mutations in the TTR gene (genetic, hereditary forms).
View Article and Find Full Text PDFHereditary transthyretin (TTR) amyloid polyneuropathy is an autosomal dominant life-threatening disorder. TTR is produced mainly by the liver but also by the choroid plexus and retinal pigment epithelium. Detailed clinical characterisation, identification of clinical red flags for misdiagnosis, and use of biomarkers enable early diagnosis and treatment.
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- The study evaluates the efficacy of eplontersen, a new treatment targeting hereditary transthyretin amyloidosis (ATTRv), specifically in its polyneuropathy form, through a phase 3 trial known as NEURO-TTRansform.
- Conducted across 40 sites globally, the trial included 168 adults with specific eligibility criteria, comparing results from patients treated with eplontersen to historical data from placebo participants.
- Main outcomes measured improvements in serum transthyretin levels and quality of life scores, showing a significant reduction in transthyretin levels in eplontersen-treated patients compared to placebo, indicating potential effectiveness of the treatment.
Article Synopsis
- Hereditary transthyretin-mediated amyloidosis is a rare, serious disease that impacts many aspects of a patient’s life, prompting a need for improved care strategies.
- An international Delphi survey was created with a diverse panel of healthcare professionals and patient advocates to develop guidance focused on seven key care goals, including early diagnosis and support for both patients and caregivers.
- The survey gathered feedback from 122 participants, mainly healthcare professionals, revealing a high level of agreement for care recommendations, though only a third were widely recognized as standard practice among respondents.
Article Synopsis
- Early diagnosis of cardiac transthyretin amyloidosis, particularly in individuals with the V30M mutation, is essential, as DPD scintigraphy may not be entirely accurate for this subgroup.
- A study involving 288 V30M mutation carriers revealed that 14.2% had ATTR cardiomyopathy, with a significantly higher mortality rate observed in those with cardiomyopathy or DPD uptake during a 33.6-month follow-up period.
- The combination of septal thickness and DPD uptake provides better risk stratification, indicating that patients without both conditions have the best prognosis, while those with either or both face much higher mortality rates.
causes significant yield losses in many crops and the chemical control measures currently used are less effective for this nematode. The activity of aqueous extracts (0.8 mg/mL) of one-month-old (R1M) and two-months-old roots and immature fruits (F) of (Sl) and cv.
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