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Pediatric Research May 2023We report a 3-month-old female with cardiovascular anomalies and diffuse intestinal infantile hemangioma (IIH) of the small bowel suggesting possible diagnosis of PHACE...
BACKGROUND
We report a 3-month-old female with cardiovascular anomalies and diffuse intestinal infantile hemangioma (IIH) of the small bowel suggesting possible diagnosis of PHACE syndrome (posterior fossa anomalies, hemangioma, arterial lesions, cardiac abnormalities/coarctation of the aorta, eye anomalies). The GI symptoms persisted under treatment with propranolol, whereas the addition of sirolimus led to regression of the IIH.
METHODS
A systematic review was conducted using PubMed, EMBASE, and Ovid MEDLINE databases between 1982 and 2021.
RESULTS
A total of 4933 articles were identified; 24 articles met inclusion criteria with 46 IIH cases. The most common GI presentations were unspecified GI bleed (40%) and anemia (38%). The most common treatments were corticosteroids (63%), surgical resection (32.6%), and propranolol (28%). Available outcomes were primarily bleeding arrest (84%). Nine cases (19.5%) were diagnosed with definite PHACE, 5 (11%) with possible PHACE, and 32 (69.5%) no PHACE. Our case presented with symptoms most consistent with those of possible PHACE and definite PHACE. No cases in this review underwent treatment with sirolimus.
CONCLUSIONS
This is the first reported case of successful treatment of IIH with sirolimus. Our case, along with other patients who present with IIH and PHACE features, suggests consideration of IIH as a diagnostic criterion for PHACE syndrome.
IMPACT
This is the first reported case in which sirolimus showed regression of an intestinal infantile hemangioma. This study serves to demonstrate the presentation, treatment, outcomes of intestinal infantile hemangioma, and correlation with PHACE. The potential correlation between intestinal infantile hemangioma and PHACE deserves more study in consideration of intestinal infantile hemangioma as a diagnostic criterion of PHACE.
Topics: Humans; Female; Infant; Propranolol; Aortic Coarctation; Eye Abnormalities; Hemangioma; Hemangioma, Capillary; Syndrome
PubMed: 36180586
DOI: 10.1038/s41390-022-02325-z -
ERJ Open Research Apr 2022The COVID-19 pandemic follows severe acute respiratory syndrome (SARS) and Middle East respiratory syndrome (MERS) coronavirus epidemics. Some survivors of COVID-19... (Review)
Review
BACKGROUND
The COVID-19 pandemic follows severe acute respiratory syndrome (SARS) and Middle East respiratory syndrome (MERS) coronavirus epidemics. Some survivors of COVID-19 infection experience persistent respiratory symptoms, yet their cause and natural history remain unclear. Follow-up after SARS and MERS may provide a model for predicting the long-term pulmonary consequences of COVID-19.
METHODS
This systematic review and meta-analysis aims to describe and compare the longitudinal pulmonary function test (PFT) and computed tomography (CT) features of patients recovering from SARS, MERS and COVID-19. Meta-analysis of PFT parameters (DerSimonian and Laird random-effects model) and proportion of CT features (Freeman-Tukey transformation random-effects model) were performed.
FINDINGS
Persistent reduction in the diffusing capacity for carbon monoxide following SARS and COVID-19 infection is seen at 6 months follow-up, and 12 months after MERS. Other PFT parameters recover in this time. 6 months after SARS and COVID-19, ground-glass opacity, linear opacities and reticulation persist in over 30% of patients; honeycombing and traction dilatation are reported less often. Severe/critical COVID-19 infection leads to greater CT and PFT abnormality compared to mild/moderate infection.
INTERPRETATION
Persistent diffusion defects suggestive of parenchymal lung injury occur after SARS, MERS and COVID-19 infection, but improve over time. After COVID-19 infection, CT features are suggestive of persistent parenchymal lung injury, in keeping with a post-COVID-19 interstitial lung syndrome. It is yet to be determined if this is a regressive or progressive disease.
PubMed: 35642193
DOI: 10.1183/23120541.00056-2022 -
Scandinavian Journal of Gastroenterology Jun 2023Diffuse peripheral neuropathy is a well-known complication of several conditions, whereas many patients have peripheral neuropathy of unknown etiology and...
INTRODUCTION
Diffuse peripheral neuropathy is a well-known complication of several conditions, whereas many patients have peripheral neuropathy of unknown etiology and pathophyisology. Increased knowledge of mechanisms may provide insight into enteric neuropathy with gastrointestinal dysmotility. The aim of the present systematic review was to identify mechanisms behind diffuse idiopathic peripheral neuropathies in humans.
METHODS
Searches were performed in PubMed, Embase, and Web of Science. Human original and review articles, written in English, describing mechanisms behind diffuse peripheral neuropathy verified by objective examinations were intended to be studied. Articles that described animal models, well-described hereditary diseases, drug-induced neuropathy, pain syndromes, malnutrition, and local neuropathy were excluded.
RESULTS
In total, 4712 articles were identified. After scrutinizing titles and abstracts, 633 remained and were studied in full text. After the removal of articles not fulfilling inclusion or exclusion criteria, 52 were finally included in this review. The most frequently described neuropathy was diabetic neuropathy, with a wide range of mechanisms involving mitochondrial dysfunction such as oxidative stress and inflammation. Microvascular changes in diabetes and vasculitis lead to ischemia and secondary oxidative stress with inflammation. Structural changes in neurons and glial cells are observed, with abnormalities in different neurotrophic factors. Neuropathy induced by autoantibodies or immunological mechanisms is described in infectious and systemic inflammatory diseases. Several ion channels may be involved in painful neuropathy. No study identified why some patients mainly develop large fiber neuropathy and others small fiber neuropathy.
CONCLUSION
Metabolic and immunological factors and channelopathy may be considered in diffuse idiopathic peripheral neuropathy.
Topics: Humans; Pain; Diabetic Neuropathies; Inflammation
PubMed: 36546668
DOI: 10.1080/00365521.2022.2160272 -
Diagnostic and Interventional Imaging Mar 2021The purpose of this systematic review was to provide an overview of the contribution of multiparametric magnetic resonance imaging (MRI) in the diagnosis of parotid... (Review)
Review
PURPOSE
The purpose of this systematic review was to provide an overview of the contribution of multiparametric magnetic resonance imaging (MRI) in the diagnosis of parotid tumors (PT) and recommendations based on current evidences.
MATERIAL AND METHODS
We performed a retrospective systematic search of PubMed, EMBASE, and Cochrane Library databases from inception to January 2020, using the keywords "magnetic resonance imaging" and "salivary gland neoplasms".
RESULTS
The initial search returned 2345 references and 90 were deemed relevant for this study. A total of 54 studies (60%) reported the use of diffusion-weighted imaging (DWI) and 28 studies (31%) the use of dynamic contrast-enhanced (DCE) imaging. Specific morphologic signs of frequent benign PT and suggestive signs of malignancy on conventional sequences were reported in 37 studies (41%). DWI showed significant differences in apparent diffusion coefficient (ADC) values between benign and malignant PT, and especially between pleomorphic adenomas and malignant PT, with cut-off ADC values between 1.267×10mm/s and 1.60×10mm/s. Perfusion curves obtained with DCE imaging allowed differentiating among pleomorphic adenomas, Warthin's tumors, malignant PT and cystic lesions. The combination of morphological MRI sequences, DCE imaging and DWI helped increase the diagnostic accuracy of MRI.
CONCLUSION
Multiparametric MRI, including morphological MRI sequences, DWI and DCE imaging, is the imaging modality of choice for the characterization of focal PT and provides features that are highly suggestive of a specific diagnosis.
Topics: Adenolymphoma; Contrast Media; Diagnosis, Differential; Diffusion Magnetic Resonance Imaging; Humans; Magnetic Resonance Imaging; Multiparametric Magnetic Resonance Imaging; Parotid Neoplasms; Retrospective Studies; Sensitivity and Specificity
PubMed: 32943368
DOI: 10.1016/j.diii.2020.08.002 -
Exploration of Targeted Anti-tumor... 2022Head and neck squamous cell cancer (HNSCC) is the ninth most common tumor worldwide. Neck lymph node (LN) status is the major indicator of prognosis in all head and neck... (Review)
Review
AIM
Head and neck squamous cell cancer (HNSCC) is the ninth most common tumor worldwide. Neck lymph node (LN) status is the major indicator of prognosis in all head and neck cancers, and the early detection of LN involvement is crucial in terms of therapy and prognosis. Diffusion-weighted imaging (DWI) is a non- invasive imaging technique used in magnetic resonance imaging (MRI) to characterize tissues based on the displacement motion of water molecules. This review aims to provide an overview of the current literature concerning quantitative diffusion imaging for LN staging in patients with HNSCC.
METHODS
This systematic review performed a literature search on the PubMed database (https://pubmed.ncbi.nlm.nih.gov/) for all relevant, peer-reviewed literature on the subject following the preferred reporting items for systematic reviews and meta-analyses (PRISMA) criteria, using the keywords: DWI, MRI, head and neck, staging, lymph node.
RESULTS
After excluding reviews, meta-analyses, case reports, and bibliometric studies, 18 relevant papers out of the 567 retrieved were selected for analysis.
CONCLUSIONS
DWI improves the diagnosis, treatment planning, treatment response evaluation, and overall management of patients affected by HNSCC. More robust data to clarify the role of apparent diffusion coefficient (ADC) and DWI parameters are needed to develop models for prognosis and prediction in HNSCC cancer using MRI.
PubMed: 36530194
DOI: 10.37349/etat.2022.00110 -
Critical Reviews in Oncology/hematology Sep 2021Diffuse large B-cell lymphoma (DLBCL), the most common type of Non-Hodgkin lymphoma (NHL), is a highly heterogeneous and aggressive disease. Regardless of this... (Review)
Review
Diffuse large B-cell lymphoma (DLBCL), the most common type of Non-Hodgkin lymphoma (NHL), is a highly heterogeneous and aggressive disease. Regardless of this heterogeneity, all patients receive the same first-line therapy, which fails in 30-40 % of patients, who are either refractory or relapse after remission. With the aim of stratifying patients to improve treatment outcome, different clinical and genetic biomarkers have been studied. The present systematic review aimed to identify somatic mutations that could serve as prognosis biomarkers or as therapeutic target mutations in DLBCL. Regarding their role as prognostic markers, mutations in CD58 and TP53 seem the most promising predictors of poor outcome although the combination of different alterations and other prognostic factors could be a more powerful strategy. On the other hand, different approaches regarding targeted therapy have been proposed. Therefore, mutational analysis could help guide treatment choice in DLBCL yet further studies and clinical trials are needed.
Topics: DNA Mutational Analysis; Humans; Lymphoma, Large B-Cell, Diffuse; Mutation; Neoplasm Recurrence, Local; Prognosis
PubMed: 34339834
DOI: 10.1016/j.critrevonc.2021.103430 -
Indian Journal of Urology : IJU :... 2023Xanthogranulomatous inflammation is a rare nonneoplastic and chronic inflammatory process, characterized by proliferation of foamy macrophages resulting in damage and...
INTRODUCTION
Xanthogranulomatous inflammation is a rare nonneoplastic and chronic inflammatory process, characterized by proliferation of foamy macrophages resulting in damage and necrosis of the affected tissue. Involvement of the testis/epididymis by the disease is a rare event.
METHODS
A case series of four male patients diagnosed with xanthogranulomatous epididymitis/orchitis (XGEO) at our institute was reviewed. In addition, a systematic review of XGEO was carried out using PRISMA Guidelines 2020. Twenty-nine articles describing 38 patients of XGEO were included in the study.
RESULTS
XGEO usually has a subacute or chronic presentation and affects male individuals in the 5 or 6 decades of life. The disease is also known to occur in the pediatric age group. The patients present with swelling, tenderness, or pain in the scrotal region. Bilateral involvement has also been documented. Thirty patients were known to have one or more causal risk factors including diabetes mellitus (23.7%), spinal cord injury/neuropathic bladder (7.9%), prostatectomy (7.9%), trauma (4.1%), and transurethral resection of prostate procedure (4.1%). Complications observed were scrotal fistula, adhesions, and abscess formation. Radiological features reported are nonspecific and include heterogeneous echotexture, hypoechoic areas, and/or scrotal wall collections. Bacterial microorganisms isolated from the affected tissue demonstrated the presence of Escherichia coli, Pseudomonas aeruginosa, and Staphylococcus aureus. Histological subtypes of XGEO are diffuse and focal. In the diffuse subtype, which is more common, there is extensive parenchymal destruction by inflammatory process accompanied by widespread ischemic necrosis.
CONCLUSION
The mainstay of treatment in XGEO cases is surgical excision preferably orchidectomy. Conservative management has been attempted in young individuals and in patients with focal XGEO, but there is limited supporting evidence. We present data of four cases along with detailed systematic review of the disease examining its clinicopathological behavior and associated risk factors followed by operative approach.
PubMed: 36824114
DOI: 10.4103/iju.iju_270_22 -
NeuroImage. Clinical 2020Diffusion magnetic resonance imaging (dMRI) is an imaging technique which probes the random motion of water molecules in tissues and has been widely applied to... (Review)
Review
Diffusion magnetic resonance imaging (dMRI) is an imaging technique which probes the random motion of water molecules in tissues and has been widely applied to investigate changes in white matter microstructure in Alzheimer's Disease. This paper aims to systematically review studies that examined the effect of Alzheimer's risk genes on white matter microstructure. We assimilated findings from 37 studies and reviewed their diffusion pre-processing and analysis methods. Most studies estimate the diffusion tensor (DT) and compare derived quantitative measures such as fractional anisotropy and mean diffusivity between groups. Those with increased AD genetic risk are associated with reduced anisotropy and increased diffusivity across the brain, most notably the temporal and frontal lobes, cingulum and corpus callosum. Structural abnormalities are most evident amongst those with established Alzheimer's Disease. Recent studies employ signal representations and analysis frameworks beyond DT MRI but show that dMRI overall lacks specificity to disease pathology. However, as the field advances, these techniques may prove useful in pre-symptomatic diagnosis or staging of Alzheimer's disease.
Topics: Alzheimer Disease; Anisotropy; Brain; Diffusion Magnetic Resonance Imaging; Diffusion Tensor Imaging; Humans; White Matter
PubMed: 32758801
DOI: 10.1016/j.nicl.2020.102359 -
European Respiratory Review : An... Dec 2023Autoimmune pulmonary alveolar proteinosis (aPAP) results from impaired macrophage-mediated clearance of alveolar surfactant lipoproteins. Whole lung lavage has been the... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Autoimmune pulmonary alveolar proteinosis (aPAP) results from impaired macrophage-mediated clearance of alveolar surfactant lipoproteins. Whole lung lavage has been the first-line treatment but recent reports suggest the efficacy of granulocyte-macrophage colony-stimulating factor (GM-CSF). We aimed to review the efficacy and safety of nebulised GM-CSF in aPAP.
METHODS
We conducted a systematic review and meta-analysis searching Embase, CINAHL, MEDLINE and Cochrane Collaborative databases (1946-1 April 2022). Studies included patients aged >18 years with aPAP receiving nebulised GM-CSF treatment and a comparator cohort. Exclusion criteria included secondary or congenital pulmonary alveolar proteinosis, GM-CSF allergy, active infection or other serious medical conditions. The protocol was prospectively registered with PROSPERO (CRD42021231328). Outcomes assessed were St George's Respiratory Questionnaire (SGRQ), 6-min walk test (6MWT), gas exchange (diffusing capacity of the lung for carbon monoxide ( ) % predicted) and arterial-alveolar oxygen gradient.
RESULTS
Six studies were identified for review and three for meta-analysis, revealing that SGRQ score (mean difference -8.09, 95% CI -11.88- -4.3, p<0.0001), functional capacity (6MWT) (mean difference 21.72 m, 95% CI -2.76-46.19 m, p=0.08), gas diffusion ( % predicted) (mean difference 5.09%, 95% CI 2.05-8.13%, p=0.001) and arterial-alveolar oxygen gradient (mean difference -4.36 mmHg, 95% CI -7.19- -1.52 mmHg, p=0.003) all significantly improved in GM-CSF-treated patients with minor statistical heterogeneity (I=0%). No serious trial-related adverse events were reported.
CONCLUSIONS
Patients with aPAP treated with inhaled GM-CSF demonstrated significant improvements in symptoms, dyspnoea scores, lung function, gas exchange and radiology indices after treatment with nebulised GM-CSF of varying duration. There is an important need to review comparative effectiveness and patient choice in key clinical outcomes between the current standard of care, whole lung lavage, with the noninvasive treatment of nebulised GM-CSF in aPAP.
Topics: Humans; Pulmonary Alveolar Proteinosis; Granulocyte-Macrophage Colony-Stimulating Factor; Administration, Inhalation; Oxygen
PubMed: 37993127
DOI: 10.1183/16000617.0080-2023 -
NeuroImage. Clinical 2023The anterior optic pathway (AOP) is a system of three structures (optic nerves, optic chiasma, and optic tracts) that convey visual stimuli from the retina to the... (Review)
Review
The anterior optic pathway (AOP) is a system of three structures (optic nerves, optic chiasma, and optic tracts) that convey visual stimuli from the retina to the lateral geniculate nuclei. A successful reconstruction of the AOP using tractography could be helpful in several clinical scenarios, from presurgical planning and neuronavigation of sellar and parasellar surgery to monitoring the stage of fiber degeneration both in acute (e.g., traumatic optic neuropathy) or chronic conditions that affect AOP structures (e.g., amblyopia, glaucoma, demyelinating disorders or genetic optic nerve atrophies). However, its peculiar anatomy and course, as well as its surroundings, pose a serious challenge to obtaining successful tractographic reconstructions. Several AOP tractography strategies have been adopted but no standard procedure has been agreed upon. We performed a systematic review of the literature according to the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) 2020 guidelines in order to find the combinations of acquisition and reconstruction parameters that have been performed previously and have provided the highest rate of successful reconstruction of the AOP, in order to promote their routine implementation in clinical practice. For this purpose, we reviewed data regarding how the process of anatomical validation of the tractographies was performed. The Cochrane Handbook for Systematic Reviews of Interventions was used to assess the risk of bias and thus the study quality We identified thirty-nine studies that met our inclusion criteria, and only five were considered at low risk of bias and achieved over 80% of successful reconstructions. We found a high degree of heterogeneity in the acquisition and analysis parameters used to perform AOP tractography and different combinations of them can achieve satisfactory levels of anterior optic tractographic reconstruction both in real-life research and clinical scenarios. One thousand s/mm was the most frequently used b value, while both deterministic and probabilistic tractography algorithms performed morphological reconstruction of the tract satisfactorily, although probabilistic algorithms estimated a more realistic percentage of crossing fibers (45.6%) in healthy subjects. A wide heterogeneity was also found regarding the method used to assess the anatomical fidelity of the AOP reconstructions. Three main strategies can be found: direct visual direct visual assessment of the tractography superimposed to a conventional MR image, surgical evaluation, and computational methods. Because the latter is less dependent on a priori knowledge of the anatomy by the operator, computational methods of validation of the anatomy should be considered whenever possible.
Topics: Humans; Diffusion Magnetic Resonance Imaging; Magnetic Resonance Imaging; Diffusion Tensor Imaging; Retina; Amblyopia
PubMed: 37651845
DOI: 10.1016/j.nicl.2023.103494