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Fenestrated Physician-Modified Endografts (PMEGs) - a Viable Option for Urgent Cases
No full textINTRODUCTION: Fenestrated and branched stent graft technology has come a long way over the past few years, enabling the treatment of complex juxtarenal aneurysms, thoracoabdominal aneurysms, and arch pathologies. Many innovations have been developed, namely device and delivery optimization and technical tricks. These concepts have proven to work well when there is sufficient time to plan and manufacture a custom-made device for the patient. However, this is different in urgent or emergent cases. Using parallel graft techniques or off-theshelf stent grafts may be efficient in urgent situations, but it is also associated with selection limitations. Recent publications have demonstrated similar mid-term technical and clinical results between physician-modified endografts (PMEGs) and customized devices. The authors aim to describe their institutional series of PMEGs.
METHODS: The clinical files of all patients undergoing PMEGs were consulted, and demographic data as surgery outcomes were collected. Technical success: creating the intended number of fenestrations, target vessel catheterization, and patency. Procedural success: technical success with adequate aneurysm exclusion and without endoleak in the final angiography. 30-day complications and mortality were also evaluated. Technical and procedural success were assessed, as well as morbidity and mortality.
RESULTS: Between December 2020 and December 2022, 3 patients underwent PMEGs. The indications were a juxtarenal aortic aneurysm, a type V thoracoabdominal aneurysm and a persistent type 1a endoleak. All patients were symptomatic, with one stable rupture. All cases were performed with technical and procedural success and no morbidity and mortality at 30 days.
CONCLUSION: Stent graft modification is a valuable and valid tool in emergencies and should be a vascular surgeon's trump card when dealing with complex aortic pathologies. Nevertheless, due to the absence of longterm evidence, it should be reserved for acute patients unfit for open repair and in aneurysms with unfavorable anatomy for an off-the-shelf device
Case Report: Hypomorphic Ligase 4 deficiency - a Paradigm of immunodysregulation.
No full textDNA Ligase 4 is critical to nonhomologous end joining, necessary for V(D)J recombination in T and B cell development. Ligase 4 deficiency is a rare autosomal recessive disorder caused by hypomorphic mutations in the DNA Ligase 4 gene, that can lead to a wide range of phenotypes. We describe a case of Ligase 4 deficiency causing a type of T-B-NK+ atypical SCID, highlighting the clinical and immunologic manifestations. An eight-year-old female, from São Nicolau Island (Cape Verde), presented at our hospital with a history of recurrent pneumonia and suppurative otitis, multiple skin lesions attributed to fungal and bacterial infections since the age of two, and recurrent diarrhea and growth impairment, beginning at the age of four. The laboratory workup showed almost absent B cells, marked hypogammaglobulinemia, and an impaired response to protein antigens. Flow cytometry revealed normal NK and T cell counts, but with nearly absent naïve T cells and TCR-Va7 expressing T lymphocytes, and reduced proliferative responses to mitogens and antigens. An oligoclonal Vβ repertoire was identified by FACS, and PROMIDISa analysis revealed a skewed TCRa repertoire signature. A 477 PID-related genes NGS panel identified a homozygous R278H mutation in the DNA Ligase 4 gene, previously reported to cause Ligase 4 deficiency. Immunoglobulin replacement and prophylactic therapies were started while waiting for hematopoietic stem cell transplantation. She has experienced fluctuating transaminase levels. The cutaneous biopsy was suggestive of lupus pernio. She has shown recurrent inflammatory signs in her limbs, with documented tenosynovitis on ultrasound. Homozygous R278H in Ligase 4 has been linked to various ranges of manifestations in Ligase 4 deficient patients. In our report, this genotype resulted in T-B-NK+ atypical SCID, that after proper prophylaxis has a predominant autoimmune phenotype
Effect of Anticoagulation and Individualized Fluid Therapy on Graft Outcomes in Simultaneous Pancreas-Kidney Transplant Recipients.
No full textBackground Simultaneous pancreas-kidney (SPK) transplantation is the preferred treatment for type 1 diabetes mellitus with end-stage renal disease. Early graft loss, especially from pancreatic thrombosis, remains a major challenge. Optimal anticoagulation and fluid strategies are critical but not standardized. Methodology We retrospectively reviewed 64 SPK transplants in our center. Group 1 (n = 28) received liberal fluid infusion guided by urine output (>200 mL/hour) and prophylactic low-molecular-weight heparin. Group 2 (n = 36) received unfractionated heparin (UFH) infusion titrated to an activated partial thromboplastin time ratio of 1.5 and PiCCO®-guided fluid management, as a new postoperative protocol was implemented. Patient and graft characteristics and outcomes were analyzed. Results Donor and recipient baseline characteristics were comparable. We found a meaningful reduction in pancreas graft thrombosis in Group 2 (6% vs. 18%, p = 0.167), along with similar hemorrhagic complications (21% vs 28%, p = 0.187). Group 2 had higher cumulative fluid balance at 72 hours (9,704 vs. 7,436 mL, p = 0.027) and improved P/F ratio on day 3 (304 vs. 296, p = 0.033). We also documented a reduction in renal delayed graft function (11% vs. 3%, p = 0.171). A relevant increase in pancreas graft survival was seen (71% vs. 92%, p = 0.641), but renal graft survival was similar. Hospital and intensive care unit mortality was similar between the two groups. Conclusions UFH anticoagulation combined with PiCCO®-guided fluid management may reduce pancreas thrombosis and delayed renal graft function, without significantly increasing bleeding risk. A patient-specific perioperative approach could enhance SPK transplant outcomes
Childhood Anemia in Mozambique: A Multilevel Mixed-Effects Analysis of 2011-2022/23 Population-Based Surveys.
No full textBackground/Objectives: Anemia adversely affects children's cognitive and motor development and remains a global public health problem. This study aimed to identify the individual, feeding, household, and community determinants of anemia among children in Mozambique.
Methods: We used pooled datasets of two Mozambique representative population-based surveys: the 2011 and 2022-2023 Demographic and Health Surveys. A total sample of 8143 children aged 6-59 months with available hemoglobin testing was included. Multilevel mixed-effects analysis was performed using STATA (18.0).
Results: Over a decade, the prevalence of anemia in children aged 6-59 months remained high, increasing slightly from 69.1% in 2011 to 72.9% in 2022. Children aged 6-11 months were less likely to have anemia than children from other age groups (aOR = 0.77, 95% CI = 0.62-0.96). Children who suffered from illnesses (aOR = 1.44, 95% CI = 1.18-1.75), received vitamin A supplements (aOR = 0.76, 95% CI = 0.63-0.93), lived in female-headed households (aOR = 1.16, 95% CI = 1.01-1.32), and who lived in households with unimproved drinking water sources (aOR = 1.40, 95% CI = 1.19-1.65) were more likely to have anemia than their peers. Overall, 16% of the variability in anemia prevalence was attributed to differences between clusters (ICC = 0.16).
Conclusions: Childhood anemia remains a critical public health challenge in Mozambique, with prevalence rates exceeding the average for sub-Saharan Africa. Multisectoral approaches to enhance essential supplies' provision and the primary healthcare monitoring of children at risk favored more investments in rural development and sustainable agriculture, water sanitation, and social care and gender-sensitive work policies that can help tackle childhood anemia
Assessment of Competencies of Clinical Research Professionals and Proposals to Improve Clinical Research in Portugal.
No full textBackground: Clinical studies are coordinated by multidisciplinary teams, which often lack adequate training and competencies. In this study, ROCHE and AICIB (Agency for Clinical Research and Biomedical Innovation) conducted a self-assessment survey aiming to evaluate the competency of clinical research professionals to conduct clinical research in Portugal and promote the identification of key actions to address priority gaps.
Methods: Clinical research professionals from 10 Portuguese centres answered an electronic survey, adapted and translated from the Joint Task Force for Clinical Trial Competency (JTFCTC) framework. Representatives of the centres, ROCHE and AICIB held a meeting to discuss the survey results, identify priority gaps and propose recommendations.
Results: A total of 109 participants answered the questionnaire with the following national geographical distribution: North (n = 46), Centre Region (n = 16), and Lisbon metropolitan area (n = 47). A considerable proportion were Investigators (44.0%) and had more than 10 years of experience (34.9%). The eight JTFCTC Domains scored under 60% in the level of knowledge, with Investigators achieving overall higher scores. To address these gaps, key actions were proposed, such as enhancing training and educational opportunities, fostering collaboration and networking, and investing in infrastructure and resources.
Conclusion: This study was the first to assess clinical trial competency in Portugal, registering a high participation rate. The study highlights the need to develop a national plan of action, in a collaborative effort, between clinical research centres, universities, industry, regulatory authorities, national agencies, and patient organizations. This will not only contribute to elevate the quality of studies but also improve compliance with international standards, ultimately benefiting both researchers and patients
The Efficacy of Dupilumab Largely Exceeds the 6-Month Treat-to-target Goals: An Analysis in an Atopic Dermatitis Referral Center
No full textSeizure Prediction in Cerebral Venous Thrombosis - a Retrospective Single-Centre Observational Study.
No full textCerebral venous thrombosis (CVT) accounts for 0.5-1% of all strokes and 24-50% of these patients develop acute symptomatic seizures (AS). Clinical and radiological characteristics have been associated with an increased risk of AS in CVT. We aimed to identify clinical and imaging predictors associated with a higher risk of AS in CVT patients.We conducted a single-centre, retrospective cohort study and included all patients with CVT admitted to our stroke unit between January/2011-December/2022. Our primary outcome was AS occurence. Clinical and radiological characteristics were compared through a logistic binary regression, followed by a multivariable analysis.We included 156 patients, 80.8% female and a mean age of 41.5 ± 15.2 years. Fifty-two patients (33.3%) had a seizure during follow-up, the majority as AS (30.1%). We found an increased risk of AS in patients with focal signs at presentation (OR 5.35), superior longitudinal sinus (SLS) or cortical vein involvement (OR 5.03; OR 3.94), hemorrhagic lesions or oedema (OR 3.88; OR 4.17) and lesions located in the frontal or the parietal lobe (OR 4.61; OR 4.61). A multivariable analysis was also conducted and only SLS involvement (OR 6.06), cortical vein involvement (OR 2.76) and hemorrhagic lesion (OR 3.47) remained statistically significant.Seizures occurred in about a third of our CVT patients, the majority as AS. Haemorrhagic lesions, SLS and cortical vein involvement had a stronger association with AS that may raise our awareness for the risk of seizures in this population during the acute phase
European Guidelines on Diagnosis and Treatment of Phenylketonuria: First Revision.
No full textPhenylketonuria (PKU) is an autosomal recessive inherited disorder of phenylalanine metabolism caused by deficiency of the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. Untreated, PKU results in elevated phenylalanine levels in blood and brain, which cause severe intellectual disability, epilepsy and behavioural problems. For this first revision of the European PKU Guidelines previous recommendations were re-evaluated and updated according to new research findings. Twenty-one professionals were divided across four working groups and supported by a coordinator and chair. In addition to an update of the previous 70 recommendations, 20 new topics were included, resulting in a total of 87 statements in this first revision of the guidelines. Research publications were reviewed up until September 2022. Evidence was graded as high, moderate, low, very low or expert opinion and the recommendations were graded conditional or strong according to GRADE methodology. All recommendations were discussed during 14 plenary online or in person meetings. Recommendations were accepted if more than 75 % of the professionals were in agreement. When recommendations were not amended, the text reported in the European guidelines of 2017 remains valid