Publications by authors named "Silvia Gil"

Article Synopsis
  • Cushing's disease (CD) co-occurring with chronic kidney disease (CKD) is rare and makes diagnosis challenging due to CKD-induced hypercortisolism; this report presents three female cases to improve understanding of diagnosis in such contexts.
  • Each patient, aged between 12 and 16, had various CKD-related conditions and presented symptoms typical of CD, which were confirmed through clinical and biochemical evaluations; surgical interventions led to remission, but some patients developed pituitary deficiencies.
  • These cases highlight the need for careful clinical assessment in diagnosing CD among CKD patients, as clear diagnostic criteria are currently lacking.
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Introduction. Hypercalcemia is infrequent in pediatrics, of diverse etiology, and with multiorgan morbidity. Objective.

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ABCD syndrome (ABnormal Calcium, Calcinosis, and Creatinine in Down syndrome) is characterized by an association of hypercalcemia, hypercalciuria, nephrocalcinosis, and impaired kidney function in patients with Down syndrome. Only 7 cases have been published worldwide, although it is believed to be underdiagnosed. This report describes 2 new patients with ABCD syndrome and compares them with the cases reported to date.

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Objectives: Secondary hyperparathyroidism (sHPT) is an important contributor to bone disease and cardiovascular calcifications in children with chronic kidney disease (CKD). When conservative measures are ineffective, parathyroidectomy is indicated. The aim of our study was to evaluate the efficacy and safety of subtotal parathyroidectomy (sPTX) in pediatric and adolescent patients, and to provide a rationale for considering this aggressive treatment in CKD patients with uncontrolled sHPT.

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Background: FACEmemory® is the first computerized, self-administered verbal episodic memory test with voice recognition. It can be conducted under minimal supervision and contains an automatic scoring system to avoid administrator errors. Moreover, it is suitable for discriminating between cognitively healthy and amnestic mild cognitive impairment (MCI) individuals, and it is associated with Alzheimer's disease (AD) cerebrospinal fluid (CSF) biomarkers.

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Unlabelled: Pediatric adrenocortical tumors are rare and heterogeneous endocrine malignancies.

Objectives: To report clinical, biochemical, and histological features, staging, and therapeutic interventions in a cohort of 28 patients treated at a single tertiary center.

Methods: A retrospective review of medical records of children with PACT (diagnosed before <18 years of age) followed between 1987-2018 at Hospital de Pediatría Garrahan, Buenos Aires, Argentina.

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Background: Mild cognitive impairment (MCI) due to Alzheimer's disease (AD) diagnosis is based on cerebrospinal fluid (CSF) or neuroimaging biomarkers. Currently, non-invasive and inexpensive blood-based biomarkers are being investigated, such as neuronal-derived plasma exosomes (NPEs). Neuroinflammation and early vascular changes have been described in AD pathogenesis and can be traced in plasma and NPEs.

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The COVID-19 pandemic has caused a profound change in health organizations at both the primary and hospital care levels. This cross-sectional study aims to investigate the impact of the COVID-19 pandemic in the annual rate of new cancer diagnosis in two university-affiliated hospitals. This study includes all the patients with a pathological diagnosis of cancer attended in two hospitals in Málaga (Spain) during the first year of pandemic.

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Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer's disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene).

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Neuropsychiatric symptoms (NPS) have been recently addressed as risk factors of conversion to Alzheimer's disease (AD) and other dementia types in patients diagnosed with Mild Cognitive Impairment (MCI). Our aim was to determine profiles based on the prominent NPS in MCI patients and to explore the predictive value of these profiles on conversion to specific types of dementia. A total of 2137 MCI patients monitored in a memory clinic were included in the study.

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To date, very few studies have been focused on the impact of the convergence of neuropsychiatric symptoms (NPS) and APOE ε4 on the conversion to dementia in patients with Mild Cognitive Impairment patients (MCI), and none has been based in a clinical setting. The objective of the study is to determine the predictive value of additive and multiplicative interactions of NPS and APOE ε4 status on the prediction of incident dementia among MCI patients monitored in a Memory Clinic. 1512 patients (aged 60 and older) with prevalent MCI were followed for a mean of 2 years.

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Article Synopsis
  • The study investigates the link between executive function deficits and brain changes in individuals with subjective cognitive decline (SCD) related to Alzheimer's disease.
  • It involves 195 SCD participants who completed various executive function tests and underwent brain imaging to assess amyloid beta deposition and brain volume.
  • Findings indicate that reduced performance on the Automatic Inhibition test correlates with higher amyloid levels and reduced brain volume in critical areas like the hippocampus, suggesting a potential early detection method for Alzheimer’s in those with SCD.
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Background: Lysophosphatidic acids (LPAs) are bioactive signaling phospholipids that have been implicated in Alzheimer's disease (AD). It is largely unknown whether LPAs are associated with AD pathology and progression from mild cognitive impairment (MCI) to AD.

Methods: The current study was performed on cerebrospinal fluid (CSF) and plasma samples of 182 MCI patients from two independent cohorts.

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Background: Fundació ACE is a non-profit organization providing care based on a holistic model to persons with cognitive disorders and their families for 25 years in Barcelona, Spain. Delivering care to this vulnerable population amidst the COVID-19 pandemic has represented a major challenge to our institution.

Objective: To share our experience in adapting our model of care to the new situation to ensure continuity of care.

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Treating patients with hard-to-heal wounds can be a daily challenge for health professionals. A systematic approach is needed to establish accurate management goals and treatment options. This should include a complete wound assessment that takes into account the wound aetiology and characteristics, as well as the patient as a whole.

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Article Synopsis
  • Optical coherence tomography (OCT) has been used to measure retinal thickness in patients with subjective cognitive decline (SCD), revealing that these individuals may show retinal layer thinning, which is associated with Alzheimer's disease (AD).
  • The study involved 129 SCD participants who underwent OCT and PET scans to examine the link between retinal thickness and amyloid-β accumulation over two years.
  • Results indicated that greater thickness in the inner nasal macular region correlates with higher likelihood of amyloid-β positivity, yet no retinal measurements predicted conversion to mild cognitive impairment (MCI) during the study period.
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Background: Computerized neuropsychological tests for early detection of Alzheimer's disease (AD) have attracted increasing interest. Memory for faces and proper names is a complex task because its association is arbitrary. It implicates associative occipito-temporal cerebral regions, which are disrupted in AD.

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The objective of this study was to regulate the cytotoxicity of cisplatin (cisPt) minimizing its adverse effects. For this purpose, the lowest cisPt concentration needed to obtain a significant positive response in cutaneous squamous cell carcinoma (cSCC) was explored. Two adjuvant agents as gold nanoparticles (AuNP) and chelating tricine were tested as enhancers in cisPt treatment.

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Article Synopsis
  • The study aimed to assess whether optical coherence tomography (OCT) can be a reliable biomarker for Alzheimer's disease (AD) and mild cognitive impairment (MCI) by examining macular volume and thickness in 930 participants.
  • Despite some previous studies suggesting thinning of the macula in AD and MCI patients, this research found no significant differences in macular thickness or volume across the groups when adjusted for various factors.
  • The only notable differences were in specific regions of the inner macular ring, but these were not significant after further statistical adjustments, indicating that OCT may not serve as a valid biomarker for cognitive impairment at this time.
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Purpose: Metastatic colorectal cancer (mCRC) is a group of distinct diseases, with clinical and molecular differences between right-sided and left-sided tumours driving varying prognosis.

Methods: Patients with /-wild type (wt) mCRC treated in first line with epidermal growth factor receptor inhibitors (EGFR-Is) (cetuximab or panitumumab) plus oxaliplatin or irinotecan-based chemotherapy from two phase II randomised trials conducted by the Spanish Cooperative for the Treatment of Digestive Tumours group were included in this retrospective study. The main objective was to analyse the prognostic effect of primary tumour location on objective response rate (ORR), progression-free survival (PFS) and overall survival (OS).

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Article Synopsis
  • Alzheimer's disease (AD) presents significant variability among cases, complicating genetic research and understanding biological mechanisms.
  • The GR@ACE study categorized known AD genetic loci into three groups based on clinical certainty and vascular influence, using gene coexpression and pathway analysis.
  • Meta-analysis identified new genetic signals associated with AD, highlighting the importance of vascular regulation and the impact of clinical heterogeneity on genetic findings.
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Article Synopsis
  • Visual impairment is prevalent among individuals with dementia, and regular eye exams can enhance their quality of life.
  • A study involving 1,746 elderly participants found that those with dementia had significantly poorer visual acuity and used fewer visual correction treatments than those with subjective cognitive decline (SCD) or mild cognitive impairment (MCI).
  • The quality of optical coherence tomography (OCT) images also declined with cognitive impairment, indicating the need for consistent eye care in dementia patients to address visual issues.
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Context: The low-dose (1 µg) ACTH test (LDT) is widely used to assess central adrenal insufficiency (CAI); however, the serum cortisol cutoff value is controversial. Salivary cortisol (SC) may be a more accurate measurement for CAI.

Objective: To assess a new maximum cutoff value of serum cortisol after LDT in pediatric patients, taking into account serum and SC measurements.

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