4940 research outputs found
Sort by
Imaging of Pediatric Skull Lytic Lesions: A Review.
No full textSkull lesions in pediatric population are common findings on imaging and sometimes with heterogeneous manifestations, constituting a diagnostic challenge. Some lesions can be misinterpreted for their aggressiveness, as with larger lesions eroding cortical bone, containing soft tissue components, leading to excessive and, in some cases, invasive inappropriate etiological investigation. In this review, we present multiple several conditions that may present as skull lesions or pseudolesions, organized by groups (anatomic variants, congenital and development disorders, traumatic injuries, vascular issues, infectious conditions, and tumoral processes). Anatomic variants are common imaging findings that must be recognized by the neuroradiologist. Congenital malformations are rare conditions, such as aplasia cutis congenita and sinus pericranii, usually seen at earlier ages, the majority of which are benign findings. In case of trauma, cephalohematoma, growing skull fractures, and posttraumatic lytic lesions should be considered. Osteomyelitis tends to be locally aggressive and may mimic malignancy, in which cases, the clinical history can be the key to diagnosis. Vascular (sickle cell disease) and tumoral (aneurismal bone cyst, eosinophilic granuloma, metastases) lesions are relatively rare lesions but should be considered in the differential diagnosis, in the presence of certain imaging findings. The main difficulty is the differentiation between the benign and malignant nature; therefore, the main objective of this pictorial essay is to review the main skull lytic lesions found in pediatric age, describing the main findings in different imaging modalities (CT and MRI), allowing the neuroradiologist greater confidence in establishing the differential diagnosis, through a systematic and simple characterization of the lesions
Imaging of Pancreatic Ductal Adenocarcinoma - An Update for All Stages of Patient Management.
No full textBackground: Pancreatic ductal adenocarcinoma (PDAC) is a common and lethal cancer. From diagnosis to disease staging, response to neoadjuvant therapy assessment and patient surveillance after resection, imaging plays a central role, guiding the multidisciplinary team in decision-planning.
Review aims and findings: This review discusses the most up-to-date imaging recommendations, typical and atypical findings, and issues related to each step of patient management. Example cases for each relevant condition are presented, and a structured report for disease staging is suggested.
Conclusion: Despite current issues in PDAC imaging at different stages of patient management, the radiologist is essential in the multidisciplinary team, as the conveyor of relevant imaging findings crucial for patient care
Pineal Gland ADC Values in Children Aged 0 to 4 Years: Normative Data and Usefulness in the Differential Diagnosis with Trilateral Retinoblastoma.
No full textPurpose: Normative ADC values of the pineal gland in young children are currently lacking, however, these are potentially useful in the differential diagnosis of pineal involvement in trilateral retinoblastoma, which is challenging when the size of the tumor is less than 10-15 mm. The main objective of this study was to establish ADC reference values of the normal pineal gland in a large cohort of children between 0 and 4 years.
Methods: This retrospective study was conducted in a tertiary pediatric hospital. We collected 64 patients with normal MRI examination (between 2017 and 2024) and clinical indication unrelated to the pineal gland, and divided them into 5 age groups (0 to 4 years). Gland size and mean ADC values were calculated, using the ellipsoid formula and ROI/histogram analysis, respectively. The established values were tested in three cases of trilateral retinoblastoma (10 to 20 months).
Results: Mean ADC values were always above 1000 × 10- 6 mm2/s, while in patients with trilateral retinoblastoma they were around 800 × 10- 6 mm2/s. Pineal ADC values were identical in both genders. The volume of the pineal gland showed a tendency to increase with age.
Conclusions: We present ADC reference data for the pineal gland in children under 4 years of age. The distribution of mean ADC values of trilateral retinoblastoma was significantly different from the normative values, hence, the use DWI/ADC may help to identify small trilateral retinoblastoma in children with ocular pathology
Listeriosis: a Rare Cause of Cardiac Implantable Electronic Device Infection.
No full textListeriosis is a series of diseases caused by the bacteria . Typically presenting with mild symptoms of diarrhea, fever, and myalgias, it can, in some cases, assume an invasive form with systemic involvement. Cardiac involvement in listeriosis is rare, with very few reports describing the involvement of cardiac implantable electronic devices (CIED), which hampers the development of conclusive recommendations regarding CIED management or antibiotic courses. We present the case of an 82-year-old woman who had a pacemaker and developed gastroenteritis complicated by bacteremia due to . The presence of vegetation in one of the pacemaker leads led to the diagnosis of endocarditis and subsequent lead substitution along with effective antibiotic therapy. This case highlights the importance of thorough investigation in patients with bacteremia due to non-typical microorganisms for infective endocarditis and describes a possible approach for device removal
Substitution of a Single Non-Coding Nucleotide Upstream of TMEM216 Causes Non-Syndromic Retinitis Pigmentosa and Is Associated With Reduced TMEM216 Expression.
No full textGenome analysis of individuals affected by retinitis pigmentosa (RP) identified two rare nucleotide substitutions at the same genomic location on chromosome 11 (g.61392563 [GRCh38]), 69 base pairs upstream of the start codon of the ciliopathy gene TMEM216 (c.-69G>A, c.-69G>T [GenBank: NM_001173991.3]), in individuals of South Asian and African ancestry, respectively. Genotypes included 71 homozygotes and 3 mixed heterozygotes in trans with a predicted loss-of-function allele. Haplotype analysis showed single-nucleotide variants (SNVs) common across families, suggesting ancestral alleles within the two distinct ethnic populations. Clinical phenotype analysis of 62 available individuals from 49 families indicated a similar clinical presentation with night blindness in the first decade and progressive peripheral field loss thereafter. No evident systemic ciliopathy features were noted. Functional characterization of these variants by luciferase reporter gene assay showed reduced promotor activity. Nanopore sequencing confirmed the lower transcription of the TMEM216 c.-69G>T allele in blood-derived RNA from a heterozygous carrier, and reduced expression was further recapitulated by qPCR, using both leukocytes-derived RNA of c.-69G>T homozygotes and total RNA from genome-edited hTERT-RPE1 cells carrying homozygous TMEM216 c.-69G>A. In conclusion, these variants explain a significant proportion of unsolved cases, specifically in individuals of African ancestry, suggesting that reduced TMEM216 expression might lead to abnormal ciliogenesis and photoreceptor degeneration
Endoscopic Retrograde Cholangiopancreatography on Pediatric Patients: Experience of a Portuguese Adult Gastroenterology Department.
No full textIntroduction: Experience with endoscopic retrograde cholangiopancreatography (ERCP) in the pediatric population is limited. Few medical centers have experts specifically trained in pediatric therapeutic endoscopy. As a result, patients are generally referred to adult endoscopists with high experience in the procedure. The aim of this study was to characterize the experience of an adult endoscopy unit with ERCP on pediatric patients, with a special focus on very young patients.
Methods: We retrospectively analyzed indications, technical success rate, final clinical diagnosis, and complications of ERCPs in children <18 years at our tertiary referral hospital center between January 1994 and June 2022.
Results: Sixty-five ERCPs were performed on 57 children with a median age of 13 years (range 1-17 years). Eleven ERCPs were performed on 9 patients up to 5 years old. Indications for ERCP were as follows: biliary obstruction (n = 40), mainly due to choledocholithiasis, lithiasic acute pancreatitis (n = 19), recurrent pancreatitis (n = 3), stent extraction (n = 2), and post-operative biliary fistula (n = 1). The cannulation success rate was 95.1%. Therapeutic interventions were performed in 79% of ERCP. All patients were followed up as inpatients. Complications were recorded in two procedures (3.1%), and no procedure-related mortality occurred.
Conclusion: In our experience, ERCP in children can be safely performed with high success rates by advanced adult-trained expert endoscopists at a high-volume center.Introdução: Existe pouca experiência na realização de colangiopancreatografia retrógrada endoscópica (CPRE) na população pediátrica. A maioria dos centros carece de especialistas especificamente treinados em endoscopia terapêutica pediátrica, sendo os doentes geralmente referenciados para Gastroenterologistas de adultos com elevada experiência na técnica. O objectivo deste estudo foi caracterizar a experiência de um departamento de Gastrenterologia de adultos em CPRE pediátrica, com destaque particular nos doentes muito novos.
Métodos: Foram analisadas retrospectivamente as indicações, sucesso técnico, diagnósticos e complicações das colangiopancreatografias retrógradas endoscópicas (CPREs) realizadas no nosso hospital terciário em crianças <18 anos, entre Janeiro de 1994 e Junho de 2022.
Resultados: Foram realizadas 65 CPREs em 57 crianças com idade mediana 13 anos (1–17 anos). Doze procedimentos foram realizados em 9 crianças com idade até 5 anos. As indicações para CPRE foram: obstrução biliar (n = 40), sobretudo devido a coledocolitíase, pancreatite aguda litiásica (n = 19), pancreatite recorrente (n = 3), extracção de prótese (n = 2) e fístula biliar pós cirurgia (n = 1). A taxa de sucesso de canulação foi 95.4%. Foram realizados procedimentos terapêuticos em 80.0% das CPREs. Todos os doentes foram vigiados em regime de internamento, tendo-se registado complicações em dois exames (3.1%). Não existiram mortes relacionadas com a técnica.
Discussão/ conclusão: A CPRE pode ser realizada na população pediátrica com segurança e elevada taxa de sucesso por Gastrenterologistas de adultos com experiência na técnica, num centro com elevado volume de exames
Dapagliflozina: Melhorar Resultados na Insuficiência Cardíaca Não Significa Aumentar Custos
No full textLong-Term Follow-Up of Kidney Function after Acute Liver Failure or Acute Liver Injury: a Cohort Study.
No full textIntroduction: Acute liver failure (ALF) is a rare disease with high mortality. Acute kidney injury (AKI) following ALF is frequent. We assessed AKI impact on long-term kidney function among ALF survivors.
Methods: Observational cohort study including consecutive adult (age ≥16 years) patients with ALF or acute liver injury (ALI) admitted to a Portuguese tertiary center intensive care unit (ICU) between October 2013 and February 2020. KDIGO criteria were used to define AKI and chronic kidney disease (CKD). Primary outcome was the estimated glomerular filtration rate (eGFR), defined by the Chronic Kidney Disease Epidemiology Collaboration formula, at least 1 year after index ICU admission.
Results: Among 104 patients with ALF (n = 74) or ALI (n = 30), mean (SD) age was 43.7 (18.0) years, and 44 were male. Among all patients (n = 104), following adjustment for age and SOFA score, AKI during the first 7 ICU days (n AKI = 57 and n renal replacement therapy [RRT] = 32) was independently associated with all-cause mortality (adjusted HR [95% CI] 11.61 [1.49-90.34]; p = 0.019). Among hospital survivors with long-term kidney function available (n = 56), median (interquartile range) >1 year eGFR was 95.3 (75.0-107.7) mL/min/1.73 m2 (mean [SD] follow-up of 3.1 [1.6] years). Among these hospital survivors, following adjustment for baseline eGFR, AKI during the first 7 ICU days (n AKI = 19 and n RRT = 10) was not associated with >1 year eGFR (p = 0.15). At least 1 year after index ICU admission, 5 patients developed CKD, none RRT-dependent.
Conclusions: Among ALF or ALI survivors, AKI was not associated with significant long-term loss of kidney function
IgA Mediated Anti-Glomerular Basement Membrane Disease with Associated Circulating Anti-Neutrophil Cytoplasm Antibodies
No full textAnti-glomerular basement membrane (anti-GBM) disease is an aggressive small vessel vasculitis usually mediated by IgG autoantibodies. We describe the case of a 73-year-old male with rapidly progressive renal failure that was diagnosed with IgA mediated anti-GBM disease associated with circulating anti-neutrophil cytoplasm antibodies (ANCA), where the diagnosis was established on kidney biopsy by detecting linear deposition of IgA along the GBM on immunofluorescence microscopy. Despite an intensive immunosuppressive regimen with plasmapheresis, steroids and oral cyclophosphamide, the disease progressed to end-stage renal failure and the patient was started on hemodialysis
An Exploration of Blood-Based Biomarkers of Negative Symptoms of Psychosis in Men.
No full textNegative symptoms in the context of psychosis are still poorly understood and diagnosed, which impairs the treatment efficacy of current therapies and patient's integration in society. In this study, we aimed to test hypothesis-based and exploratory associations of negative symptom domains, as defined by the Brief Negative Symptom Scale (BNSS), with hormonal and hematological variables, and, complementarily, with standard psychological/cognitive and psychopathological measures. Fifty-one male patients diagnosed with a psychotic disorder underwent a structured interview and blood collection. Standard Spearmen bivariate correlations were used for data analysis. We obtained evidence of hypothesis-based associations between specific negative symptoms and oxytocin, thyroid stimulating hormone levels and neutrophil-to-lymphocyte ratio; as well as novel and hypothesis-free associations with erythrocyte and lymphocyte count, mean corpuscular volume and red cell distribution width. Complementarily, we also obtained some validation of previous associations of negative symptoms with illness resolution, cognitive symptom severity and social performance, and a novel association with anger contagion. We hope our results can generate new hypotheses in psychosis research. Our work suggests further avenues in research on erythrocytic, inflammatory, thyroid and oxytocin-related markers and abnormalities in psychosis, especially in regards to specific negative symptoms, towards more precise and comprehensive etiological, diagnostic and therapeutic models