423 results match your criteria: "University of Rome "La Sapienza" Medical School[Affiliation]"

This scientific commentary refers to 'Beyond the cochlea: exploring the multifaceted nature of hearing loss in primary mitochondrial diseases', by Koohi . (https://doi.org/10.

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Beyond the traditional distinctions of genome editing: evaluating a vulnerability framework.

Front Genome Ed

October 2024

Research Unit "Ethics of Genome Editing", Institute of Ethics and History of Medicine, University of Tübingen, Tübingen, Germany.

Article Synopsis
  • The 1982 Splicing Life report established key distinctions in genetic intervention: somatic vs. germline (heritable) and medical vs. non-medical (enhancement) applications, which have since shaped the ethical and legal frameworks in this field.
  • While somatic treatments are often favored, some controversies arise when they are used for enhancement, and the justification for germline interventions varies based on context (e.g., disease prevention vs. enhancement).
  • The paper argues for shifting the focus from whether technologies should be used to how they should be used, emphasizing the importance of addressing vulnerability and marginalization to guide effective global governance and policy development.
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Purpose: Ocular graft-versus-host disease (oGVHD) affects more than half of the patients following allogeneic hematopoietic stem cell transplantation (HSCT). The disease onset and the pathogenesis of oGVHD are not well understood. We hope to identify the triggers and explore the clinical signs and symptoms of oGVHD development at the early stages.

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  • * Recent efforts to stop smoking haven't been put into action yet, and it’s important to see what could happen if smoking rates stay the same or improve.
  • * Researchers used models to predict health outcomes by 2050 based on different scenarios of smoking rates, showing that cutting smoking could greatly improve health and life expectancy.
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  • Facial synkinesis (FS) is a problem where facial muscles move involuntarily when someone tries to make a facial expression, often happening after facial palsy (FP).
  • The study tested whether combining physical therapy for the face with eyelid surgery helps people recover better and avoid FS compared to just using physical therapy alone.
  • Results showed that patients who had both treatments recovered faster and didn't develop FS, while some patients who only had physical therapy developed FS.
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  • Researchers studied strokes from 1990 to 2021 to understand how many people get them and how they are affected around the world.
  • In 2021, strokes caused about 7.3 million deaths and were a major cause of health problems, especially in specific regions like Southeast Asia and Oceania.
  • There are differences in stroke risks based on where people live and their age, and some areas actually saw more strokes happening since 2015.
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Characteristics and clinical outcomes of breast cancer in young BRCA carriers according to tumor histology.

ESMO Open

October 2024

Medical Oncology Department, U.O.C. Clinica di Oncologia Medica, IRCCS Ospedale Policlinico San Martino, Genoa; Department of Internal Medicine and Medical Specialties (DIMI), School of Medicine, University of Genova, Genoa.

Article Synopsis
  • Young women with breast cancer have a higher likelihood of carrying harmful BRCA gene variants, but data on tumor histology's prognostic value is limited.
  • A study involving 4,628 patients revealed that lobular tumors are generally diagnosed at a later stage and are more often linked to BRCA2 mutations, while ductal tumors are frequently associated with BRCA1 mutations.
  • Despite differences in tumor characteristics and treatment approaches, the study found no significant differences in disease-free or overall survival between those with ductal and lobular tumors, indicating that histology may not influence prognosis.
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Background: Ataxia telangiectasia is a multisystem disorder with progressive neurodegeneration. Corticosteroids can improve neurological functioning in patients with the disorder but adrenal suppression and symptom recurrence on treatment discontinuation has limited their use, prompting the development of novel steroid delivery systems. The aim of the ATTeST study was to evaluate the efficacy and safety of intra-erythrocyte delivery of dexamethasone sodium phosphate compared with placebo in children with ataxia telangiectasia.

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  • A study was done to see which type of CPR, mechanical or manual, works better in saving lives when someone has a heart problem.
  • They looked at many previous studies and found that 11 of them were useful for their comparison, and also included some new studies that hadn’t been checked before.
  • The results showed that while mechanical CPR was used more for men and younger patients, overall, neither method was proved to be clearly better than the other in saving lives or improving brain function.
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Gastric band removal: mind the arterial anastomoses!

Clin J Gastroenterol

October 2024

1st Department of Radiology, Areteion University Hospital, Medical School, National and Kapodistrian University of Athens, 76 Vas. Sophias Av, 11528, Athens, Greece.

Bariatric surgery may sometimes be challenging and may lead to severe complications. Surgical re-intervention in such cases is not the preferred option due to co-morbidities. When severe bleeding occurs, embolization of the lacerated vessels is the preferred minimal invasive management option and needs to be available if possible.

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The impact of socioeconomic deprivation on liver transplantation.

Front Transplant

February 2024

Multivisceral Transplant Unit, Department of Surgery, Oncology and Gastroenterology, Padua University Hospital, Padua, Italy.

Despite global expansion, social disparities impact all phases of liver transplantation, from patient referral to post-transplant care. In pediatric populations, socioeconomic deprivation is associated with delayed referral, higher waitlist mortality, and reduced access to living donor transplantation. Children from socially deprived communities are twice as much less adherent to immunosuppression and have up to a 32% increased incidence of graft failure.

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Recent evidence shows that it is possible to identify the elements responsible for sensorineural hearing loss, such as pro-inflammatory cytokines and macrophages, by performing perilymph sampling. However, current studies have only focused on the diagnosis of such as otologic conditions. Hearing loss is a feature of certain neuroinflammatory disorders such as multiple sclerosis, and sensorineural hearing loss (SNHL) is widely detected in Alzheimer's disease.

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Impact of hormone receptor status and tumor subtypes of breast cancer in young BRCA carriers.

Ann Oncol

September 2024

Department of Internal Medicine and Medical Specialties (DIMI), School of Medicine, University of Genova, Genova, Italy; Medical Oncology Department, U.O.C. Clinica di Oncologia Medica, IRCCS Ospedale Policlinico San Martino, Genova, Italy. Electronic address:

Background: Hormone receptor expression is a known positive prognostic and predictive factor in breast cancer; however, limited evidence exists on its prognostic impact on prognosis of young patients harboring a pathogenic variant (PV) in the BRCA1 and/or BRCA2 genes.

Patients And Methods: This international, multicenter, retrospective cohort study included young patients (aged ≤40 years) diagnosed with invasive breast cancer and harboring germline PVs in BRCA genes. We investigated the impact of hormone receptor status on clinical behavior and outcomes of breast cancer.

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Background: Whether intensive glucose control reduces mortality in critically ill patients remains uncertain. Patient-level meta-analyses can provide more precise estimates of treatment effects than are currently available.

Methods: We pooled individual patient data from randomized trials investigating intensive glucose control in critically ill adults.

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Introduction: Humoral factors and neural mechanisms play a central role in the pathogenesis of obesity and in weight loss following bariatric surgery. Although various hormones and adipokines, including ghrelin and resistin, are linked to obesity, studies analyzing the changes in fasting ghrelin and resistin levels in patients following one anastomosis gastric bypass (OAGB) are lacking.

Aim: The authors aimed to investigate resistin and ghrelin levels before and after two commonly used bariatric procedures with different mechanisms of action: sleeve gastrectomy (SG) and OAGB.

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Article Synopsis
  • * A survey was conducted with 490 Italian and 234 Greek dermatologists using a 50-item questionnaire to assess current practices in diagnosing and treating AA.
  • * Findings show that most dermatologists rely on patient history and clinical exams for diagnosis, use few quality-of-life assessments, and mainly prescribe topical steroids, revealing a wide variety in treatment approaches.
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Microtubule-associated protein 1a (Map1a) is a microtubule (MT) regulatory protein that binds to the MT protofilaments in mammalian cells to promote MT stabilization. Maps work with MT cleavage proteins and other MT catastrophe-inducing proteins to confer MT dynamics to support changes in the Sertoli cell shape to sustain spermatogenesis. However, no functional studies are found in the literature to probe its role in spermatogenesis.

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  • A recent study evaluated the effectiveness of second-generation carotid stents (SGS) compared to traditional single-layer stents and carotid endarterectomy (CEA), finding that SGS can lead to better outcomes in certain cases.
  • Data from over 100,000 patients indicated that specific SGS designs, like Casper/Roadsaver and CGuard, significantly reduced the risk of death, stroke, and myocardial infarction compared to CEA, while Gore stent outcomes were generally poorer.
  • Overall, the findings suggest that certain SGS types may offer advantages over CEA, but the performance varies by stent design, highlighting the need for cautious interpretation and consideration of individual patient circumstances.
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Background: Paramagnetic rim white matter (WM) lesions (PRL) are thought to be a main driver of non-relapsing multiple sclerosis (MS) progression. It is unknown whether cerebrospinal fluid (CSF)-soluble factors diffusing from the ventricles contribute to PRL formation.

Objective: To investigate the distribution of PRL and non-rim brain WM lesions as a function of distance from ventricular CSF, their relationship with cortical lesions, the contribution of lesion phenotype, and localization to neurological disability.

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Background: t(8;21)(q22;q22) is one of the most frequent chromosomal abnormalities in acute myeloid leukemia (AML), leading to the generation of the fusion protein AML1-ETO. Despite t(8;21) AML being considered as a subtype with a favorable prognosis, approximately 30-50% of patients experience drug resistance and subsequent relapse. N-methyladenosine (mA) is demonstrated to be involved in the development of AML.

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Lupus nephritis (LN) is a pathologically heterogenous autoimmune disease linked to end-stage kidney disease and mortality. Better therapeutic strategies are needed as only 30%-40% of patients completely respond to treatment. Noninvasive biomarkers of intrarenal inflammation may guide more precise approaches.

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Genetic associations with longevity are on average stronger in females than in males.

Heliyon

January 2024

The First Affiliated Hospital, Institute of Translational Medicine, Zhejiang University School of Medicine, Hangzhou, 310058, China.

Article Synopsis
  • This study investigates why females generally have longer lifespans than males, revealing that genetic factors linked to longevity are more significant in females based on extensive analysis of data from centenarians in China.
  • The research highlights that findings are consistent across various regions in China and are supported by analyses involving a large dataset of over 5,000 centenarians, indicating a potentially global pattern in genetic associations with longevity.
  • The study suggests moving away from a "one-size-fits-all" approach in healthcare, encouraging tailored medical interventions that account for sex-based genetic differences and their impacts on health outcomes.
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Background: In facioscapulohumeral muscular dystrophy (FSHD), it is not known whether physical activity (PA) practiced at young age is associated with the clinical presentation of disease. To assess this issue, we performed a retrospective cohort study concerning the previous practice of sports and, among them, those with medium-high cardiovascular commitment in clinically categorized carriers of a D4Z4 reduced allele (DRA).

Methods: People aged between 18 and 60 were recruited as being DRA carriers.

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  • Pulmonary embolism (PE) is a serious health issue that can be life-threatening, especially in patients at high risk, who need immediate treatment to avoid worsening conditions or death.
  • Recovery from PE can lead to long-term complications, including recurrent cases, bleeding, and psychological issues, which necessitates better management strategies.
  • The paper emphasizes the importance of catheter-directed therapies for unstable PE patients, as these offer quicker and safer recovery options compared to traditional treatments, highlighting the need for a patient-centered approach in managing risk and treatment.
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