4940 research outputs found
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PRESERFLO Microshunt™ versus Non-Penetrating Deep Sclerectomy for Glaucoma Management, One-Year Results.
No full textPurpose: To compare the short-term efficacy and safety of the PRESERFLO™ MicroShunt (PF) versus Non-Penetrating Deep Sclerectomy (NPDS) with Esnoper®.
Methods: Retrospective comparative cohort study at a tertiary hospital including 79 eyes from 79 patients submitted to surgery (32 PF implantation, Group 1 and 47 NPDS, Group 2) between January 2022 and August 2023, with one year follow-up. Outcome measures included intraocular pressure (IOP), complications, surgical duration, postoperative major and minor interventions. Surgical failure was defined as IOP>21 mmHg or <20% reduction from baseline, IOP<5 mmHg, major postoperative intervention, or loss of light perception. Conversely, success was defined as the absence of these failure criteria: complete success without glaucoma medications, and qualified success with.
Results: Baseline characteristics, including age, sex, IOP, number of IOP-lowering medications, and visual field defects, were comparable between groups (p>0.05). After one year, IOP decreased significantly in both groups (PF: 20.13±6.20 to 15.00±3.15 mmHg; NPDS: 19.57±5.73 to 13.30±3.59 mmHg, both p<0.001). Complete success rates were 28.1% for PF and 40.4% for NPDS (p=0.189), while surgical failure was significantly higher in the PF group (65.6% vs 38.3%, p=0.015). Major reinterventions were more frequent with PF (10 vs 3, p=0.005), partly due to encapsulated blebs, while NPDS required more minor interventions (2 vs 17, p=0.002). Complication rates were similar (31.3% vs 14.9%, p=0.073), but surgical duration was shorter in the PF group (60.03±17.95 min vs 69.91±15.23 min, p=0.008).
Conclusion: PF and NPDS share comparable safety profiles. Although PF surgery is faster, it is associated with a higher rate of major postoperative interventions and failure. NPDS, while requiring more minor interventions, such as goniopuncture and needling, rarely demands major re-interventions. NPDS is known for its meticulous and technically challenging technique, but once mastered, it can result in fewer invasive re-interventions and improved efficacy
Autosomal Dominant Polycystic Kidney Disease Inflammation Biomarkers in the Tolvaptan Era.
No full textWith the approval of tolvaptan as the first specific medicine for the treatment of rapidly progressive Autosomal Dominant Polycystic Kidney Disease (ADPKD), biomarker discovery has gained renewed interest as it is widely recognized that these will be crucial in clinical decision-making, serving as either prognostic or predictive tools. Since the marketing authorization was first issued in 2015 for ADPKD, tolvaptan has remained the sole pharmacological compound specifically targeting the disease. For ADPKD patients it is an invaluable medicine for retarding disease progression. Although the field of overall biomarker discovery and validation has been detailed in several publications, the role of inflammation remains largely overlooked in ADPKD. The current work aims to provide the reader with an updated review of inflammation biomarkers research in ADPKD, highlighting the role of urinary MCP-1 (monocyte chemoattractant protein-1) as the most promising tool
Recommendations for Contraception in Women with Gynecologic Cancer: From Diagnosis to Post-Treatment.
No full textA incidência de cancro ginecológico em mulheres durante a idade fértil está a aumentar, suscitando uma preocupação crescente com a preservação da fertilidade. Nesse contexto, torna-se essencial oferecer aconselhamento contracetivo adequado a estas doentes. Na escolha do método contracetivo, é fundamental considerar o tipo histológico do tumor e a sua expressão de recetores hormonais, bem como o momento em que o aconselhamento está a ser prestado no cuidado da doente oncológica, seja na fase de diagnóstico, de tratamento ou após o tratamento oncológico. A Sociedade Portuguesa da Contraceção e a Secção de Ginecologia Oncológica da Sociedade Portuguesa de Ginecologia apresentam recomendações sobre contraceção nas mulheres com diagnóstico de cancro ginecológico submetidas a tratamentos preservadores da fertilidade, desde o diagnóstico até ao término da idade fértilThe incidence of gynecologic cancer in women of reproductive age is increasing, as is the trend towards fertility-sparing treatments, highlighting the importance of safe and effective contraceptive counseling. Selecting a contraceptive method requires careful consideration of the tumor's histological subtype, its hormonal expression, and the timing of counseling within the cancer care continuum (diagnosis, treatment, and post-treatment phases). The Portuguese Society of Contraception and the Section of Gynecologic Oncology of the Portuguese Gynecological Society present recommendations about contraception in women with gynecologic cancer who have undergone fertility-sparing treatments, from diagnosis to the end of the reproductive age
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
No full textThe application of whole-exome sequencing (WES) for diagnostic purposes has the potential to unravel secondary findings unrelated with the primary reason of testing. Some of those might be of high clinical utility and comprise disease-causing variants in genes, related to life-threatening and clinically actionable diseases. Clarifying the allelic frequencies of such variants in specific populations is a crucial step for the large-scale deployment of genomic medicine. We analysed medically relevant variants in the 81 genes from the American College of Medical Genetics and Genomics (ACMG) v3.2 list of actionable loci, using WES data from a diagnostic laboratory cohort of 3972 persons, tentatively resampled to represent the Portuguese population geographic distribution. We identified medically actionable variants in 6.2% of our cohort, distributed across several disease domains: cardiovascular disorders (3.0%), cancer predisposition (2.0%), miscellaneous disorders (1.1%), and metabolic disorders (0.1%). Additionally, we estimated a frequency of heterozygotes for recessive disease alleles of 11.1%. Overall, our results suggest that medically actionable findings can be identified in approximately 6.2% of persons from our population. This is the first study estimating medically actionable findings in Portugal. These results provide valuable insight for patients, healthcare providers, and policymakers involved in advancing genomic medicine at the national and international level
Recomendações Portuguesas da Amiloidose Cardíaca ATTR (Parte 1 de 2): Rastreio, Diagnóstico e Tratamento. Desenvolvidas pelo Grupo de Trabalho Para as Recomendações da ATTR-CM do Grupo de Estudos das Doenças do Miocárdio e do Pericárdio da Sociedade Portuguesa de Cardiologia
No full textChronic Limb-Threatening Ischemia Under the Age of 50 – a Single-Center 12-Year Retrospective Study
No full textINTRODUCTION: Premature peripheral artery disease (PAD), defined as occurring before or at the age of 50, is a poorly studied subset of PAD due to its low incidence. It has been associated with a higher risk of progression to chronic limb-threatening ischemia (CLTI), major adverse limb events and mortality. Etiology is multifactorial, with genetics and environmental causes at play, with the most common risk factors being smoking, diabetes, and hypertension.
METHODS: A single-center retrospective study was conducted in a Portuguese tertiary center, including all patients up to the age of 50 submitted to a revascularization procedure for CLTI from May 2011 to November 2023. The primary endpoint was a composite outcome of mortality, amputation and/or reintervention. The secondary endpoints were reintervention, amputation and mortality rates, and amputation-free survival (AFS).
RESULTS: Ninety-one patients were included (74% male, median age 48). The most common risk factors were smoking (69%), diabetes (45%) and hypertension (44%). Most patients presented as Fontaine grade IV (79%). Thirtytwo patients (35%) had aortoiliac lesions, while 38 (42%) had femoropopliteal, and 21 (23%) had infra-popliteal disease. During the median follow-up period of 7.4 years (IQR 4.3-10.3), 57 patients (63%) underwent reintervention, amputation, or died. The reintervention rate was 40%, while amputation was performed on 25% of patients, and 29% of patients died. Median AFS was 4.7 years (IQR 0.8-7.8). Subgroup analysis comparing diabetic and non-diabetic patients and endovascular vs. open surgery were performed. The 30-day amputation rate was significantly higher in diabetics (12% vs. 2%, p=.05), but there were no other significant differences in subgroup analysis.
CONCLUSION: Premature CTLI is associated with poor outcomes and high mortality rates, with most patients undergoing reintervention or amputation. Further studies are needed to identify non-traditional risk factors to improve outcomes in this young population
What Is the Impact of Thiamine Deficiency on Cognitive Function in Patients With Alcohol Use Disorder? - A Systematic Review.
No full textCognitive impairments are frequently observed in patients with Alcohol Use Disorder (AUD). Thiamine deficiency is often found in AUD patients and has been suggested as a possible cause of cognitive impairments. While thiamine deficiency is not consistently present in all AUD patients with cognitive deficits, thiamine is traditionally prescribed to patients with AUD to treat or prevent cognitive impairment. To better understand the relationship between thiamine levels and cognitive impairments in AUD patients, we conducted a systematic literature review following the Cochrane guidelines and adhering to the PRISMA-P framework. Additionally, this review is registered in PROSPERO under the reference CRD42024522058. Our research question was: "what is the impact of thiamine deficiency on cognitive function in patients with AUD?". The studies included in this review assessed thiamine levels in AUD patients and found values at or above the threshold for many measures of thiamine deficiency. Despite baseline thiamine levels being above the cutoff for deficiency in these studies, many still identified a correlation between thiamine levels and cognitive function with lower thiamine levels associated with cognitive impairments in AUD patients. This review indicates that there is a relationship between thiamine levels and cognitive function in AUD patients, even in the absence of thiamine deficit. The cognitive domains particularly affected are visuospatial/executive ability, abstraction, attention, verbal fluency, and memory scores, notably delayed memory. Additionally, studies have demonstrated that thiamine supplementation in AUD patients, even in the absence of thiamine deficit, leads to improvements in cognitive function
