Publications by authors named "Fernandez H"

Introduction: Crohn's disease (CD) varies by location, potentially affecting therapy efficacy and surgery risk, although research on this topic is conflicting. This study aims to investigate the independent association between CD location and therapeutic patterns.

Methods: We analyzed patients with CD diagnosed from January 2005 to May 2023 registered in the nationwide ENEIDA registry.

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Background: For Parkinson's disease patients with motor fluctuations, the duration of benefit per levodopa dose is a key metric that reflects a patient's clinical response.

Objective: Determine the difference in mean durations of "Good On" time per dose of subjects randomized to extended-release carbidopa-levodopa (ER CD-LD; IPX203; CREXONT®) vs. immediate-release (IR) CD-LD in the RISE-PD trial.

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Germline inactivating mutations of the SLC25A1 gene contribute to various human disorders, including Velocardiofacial (VCFS), DiGeorge (DGS) syndromes and combined D/L-2-hydroxyglutaric aciduria (D/L-2HGA), a severe systemic disease characterized by the accumulation of 2-hydroxyglutaric acid (2HG). The mechanisms by which SLC25A1 loss leads to these syndromes remain largely unclear. Here, we describe a mouse model of SLC25A1 deficiency that mimics human VCFS/DGS and D/L-2HGA.

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Introduction: The COVID-19 pandemic accelerated the shift from in-person to virtual recruitment, prompting residency and fellowship programs to adopt innovative strategies, such as leveraging social media platforms to attract applicants and enhance visibility. Our aim was to identify and describe the presence of U.S.

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Phototoxicity of skin due to the application of skincare products or fragrances is increasing from day to day, since a lot of natural extracts, with low or no toxicity in the dark, are being used in the skin exposed to solar radiation. In particular, the use of 4-hydroxy-3-methoxy benzaldehyde, known as vanillin, in the pharmaceutical, food, and cosmetic industries has increased in the last years. This compound is generally considered as safe for humans, and it has been used in a wide range of applications.

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Rapid Eye Movement (REM) sleep behavior disorder (RBD) affects nearly half of Parkinson's disease (PD) patients. However, the structural heterogeneity within the brainstem, which regulates REM sleep, remains largely unexplored in PD. Our objective was to identify distinct PD subtypes based on microstructural characteristics in the brainstem and examine their associations with the severity of RBD.

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Introduction: Cognitive symptoms of Parkinson's disease (PD) may initially present subtly, often overshadowed by more noticeable motor symptoms. However, as PD progresses, predicting which individuals will experience significant cognitive decline becomes challenging due to variability, suggesting distinct PD subtypes with varying cognitive trajectories. This study aimed to identify early PD subtypes based on patterns of gray matter atrophy in brain regions associated with cognition and assess their distinct patterns of cognitive change over time.

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TP53-mutated myeloid disease is a constellation of abnormalities seen in both de novo and therapy-related acute myeloid leukemia and myelodysplastic syndrome. Historically, this group of disorders has had a poor prognosis. Newer treatment combinations allow patients to be treated with less toxicity.

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Study Objective: The aim is to analyze the management of cesarean scar pregnancy (CSP) based on local and systemic Methotrexate, a protocol implemented in a referral center.

Design: This is an observational, retrospective, monocentric, cohort study with a description of the local protocol, treatment results and tolerance profile. Design Classification III.

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Background/purpose: Flow diverter porosity directly influences the blood flow reduction at the aneurysm neck level and the anatomical result of the treatment. In this research, we present and compare three methodologies to determine the local porosity of deployed flow diverters.

Method: Three-dimensional rotational angiography was used to obtain computational vessel models of three patients.

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Background: Dexterous dysfunction is a bothersome patient-reported symptom of Parkinson's disease (PD). Current clinical assessments do not directly evaluate goal-directed hand function. This project sought to determine the capability of the electronic Manual Dexterity Test (MDT) to characterize dexterity across a range of PD patients.

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Article Synopsis
  • Diminished ovarian reserve (DOR) and primary ovarian insufficiency (POI) significantly contribute to female infertility, with a recent study finding a genetic cause in 29.3% of POI cases.
  • A prospective study of 120 patients with unexplained DOR revealed a 24.2% diagnostic yield using advanced sequencing technology to identify genes related to various biological pathways.
  • Findings indicated that impaired oocyte quality is linked to meiosis/DNA repair genes, and the study supports the need for genetic testing as a routine part of infertility diagnosis and a potential predictor for progression to POI.
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  • The study aimed to assess the outcomes of vaginal surgery for women with symptomatic cesarean scar defects, comparing those with moderate and severe defects.
  • The findings showed significant improvement in myometrial thickness and reduced abnormal uterine bleeding after surgery in both groups, though pelvic pain alleviation was only noted in the moderate group.
  • Pregnancy rates and complications were comparable between the moderate and severe defect groups, with no cases of uterine rupture reported post-surgery.
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Introduction: Returning research-based genetic results (gRoR) to participants in nephrology research can improve care; however, the practice raises implementational questions and no established guidelines for this process currently exist. Nephrologists' views on this issue can inform the process but are understudied.

Methods: We developed a conceptual workflow for gRoR from literature and experience, covering aspects such as which results to return, how, and by whom.

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Article Synopsis
  • - Pediatric nephrologists are increasingly referring patients for genetic counseling and recognize the crucial role of genetic testing in various aspects of patient care, such as diagnosis and treatment planning.
  • - Despite the recognition of its importance, nephrologists face challenges like counseling patients on genetic testing risks, selecting the right tests, interpreting results, and effectively communicating those results back to families.
  • - There is a clear need for enhanced educational resources and training for pediatric nephrologists to better integrate genetic testing into their clinical practices.
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  • This review investigates how inorganic salts influence the effectiveness of ultrasound-assisted degradation of various contaminants, revealing mixed research findings on the topic.
  • It analyzes 44 studies to understand the impact of salting-out effects, cavitation bubble behavior, and radical species generation on contaminant degradation, noting that high-intensity ultrasound is particularly effective in salt solutions.
  • The results indicate that while hydrophilic contaminants degrade better with increased ionic strength, many hydrophobic ones do not benefit as much, suggesting that radical-mediated processes play a key role in enhancing degradation rather than the salting-out effect.
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A novel genomic map of the apogamous gametophyte of the fern Dryopteris affinis unlocks oldest hindrance with this complex plant group, to gain insight into evo-devo approaches. The gametophyte of the fern Dryopteris affinis ssp. affinis represents a good model to explore the molecular basis of vegetative and reproductive development, as well as stress responses.

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Fellowship is a prime opportunity for sub-specialists to hone their teaching skills, however many fellowships lack formal teaching curricula. Existing curricula may not include supervision of fellows' teaching skills. We designed a Fellows as Teachers curriculum for geriatric medicine fellows that incorporates direct observation and feedback to improve their teaching skills.

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Endometriosis is a complex gynecologic disorder characterized primarily by symptoms of pelvic pain, infertility, and altered quality of life. National and international guidelines highlight the diagnostic difficulties and lack of conclusive diagnostic tools for endometriosis. Furthermore, guidelines are becoming questionable at an increasingly rapid rate as new diagnostic techniques emerge.

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  • A new computational tool is introduced for guiding the treatment of intracranial aneurysms by combining preoperative simulation data with real-time X-Ray images during surgery.
  • The tool allows for optimal selection and positioning of flow diverter (FD) devices by aligning 3D models of the vessels with 2D-X-Ray scans, enabling surgeons to visually assess the device’s deployment.
  • Validation of the approach showed a high accuracy in positioning, with a minor average difference of 0.832 mm between simulated and actual device locations, ultimately supporting safer surgical decisions.
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Introduction: Metroplasty is a procedure used by some teams to correct certain uterine anomalies to improve fertility outcomes. Our goal was to evaluate hysteroscopic metroplasty in the management of nulliparous and infertile patients with a uterine anomalies.

Material And Methods: We conducted a single-center, retrospective, observational study of women who underwent hysteroscopic metroplasty for infertility between January 1, 2015 and December 31, 2019.

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Fludarabine (Flu) and melphalan (Mel) reduced-intensity conditioning is frequently used for allogenic hematopoietic cell transplant (allo-HCT) in patients with acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS). However, there is limited evidence on the impact of Mel dosing on toxicities and clinical outcomes of allo-HCT. We retrospectively compared 8/8 HLA-matched donor allo-HCT outcomes of 345 patients with AML or MDS receiving total Mel dose of 100 mg/m (Mel-100, n = 62) versus 140 mg/m (Mel-140, n = 283) in combination with Flu.

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