Search results for "Clinical course"
showing 10 items of 48 documents
Prognostic Challenges of SCN1A Genetic Mutations: Report on Two Children with Mild Features
2016
Mutations in the gene encoding the α-1 subunit of the voltage-gated sodium channel (SCN1A) are associated with variable but usually severe clinical course, both for the epileptic seizures and the cognitive impairment. The purpose of the present study was to retrospectively review two patients affected by seizures and two different types of SCN1A gene mutations (microdeletion and point mutation). The children (a 4-year-old girl and a 3-year-old boy) were affected by generalized tonic–clonic seizures and myoclonic jerks plus unilateral seizures, respectively. Genetic analyses showed, in the girl, the presence of a 4 MB deletion involving SCN1A and four other genes, and a point mutation in the…
Biomarkers in Anderson–Fabry Disease
2020
Fabry disease is a rare lysosomal storage disorder caused by a deficiency of α-galactosidase A, resulting in multisystemic involvement. Lyso-Gb3 (globotriaosylsphingosine), the deacylated form of Gb3, is currently measured in plasma as a biomarker of classic Fabry disease. Intensive research of biomarkers has been conducted over the years, in order to detect novel markers that may potentially be used in clinical practice as a screening tool, in the context of the diagnostic process and as an indicator of response to treatment. An interesting field of application of such biomarkers is the management of female heterozygotes who present difficulty in predictable clinical progression. This revi…
Molecular profiling of pancreatic neuroendocrine tumors (pNETS) and the clinical potential
2018
Abstract: Introduction: Pancreatic neuroendocrine tumors (pNETs) represent a small part of pancreatic neoplasms, and the knowledge about their indolent clinical course remains a subject of investigation. They occur sporadically or as part of familial cancer syndromes and are classified by WHO in 3 categories. There is ongoing research to understand their molecular profiling and leading mutations.Areas covered: The aim of this review is to clarify the overall aspects of tumorigenesis, to expose the latest developments in understanding the course of the disease and the possible therapeutic implications of these. The review also discusses functional and non-functional pNETs and associated inhe…
Impact of smoking on COVID-19 outcomes: a HOPE Registry subanalysis
2021
BackgroundSmoking has been associated with poorer outcomes in relation to COVID-19. Smokers have higher risk of mortality and have a more severe clinical course. There is paucity of data available on this issue, and a definitive link between smoking and COVID-19 prognosis has yet to be established.MethodsWe included 5224 patients with COVID-19 with an available smoking history in a multicentre international registry Health Outcome Predictive Evaluation for COVID-19 (NCT04334291). Patients were included following an in-hospital admission with a COVID-19 diagnosis. We analysed the outcomes of patients with a current or prior history of smoking compared with the non-smoking group. The primary …
Indications of the occurrence of inflammatory reactions in the clinical improvement phase in multiple sclerosis patients.
2009
– In patients with multiple sclerosis (MS) the spontaneous burst activity (BA) of peripheral blood mononuclear cells was related to the clinical course of the disease. In five patients clinical improvement was found while the BA was significantly increased (more than 300% of the controls). During the appearance of new or deteriorating signs and in the period without clinical changes, the BA was not at all or not markedly increased. In two patients without clinical improvement the BA did not reach levels above 300% of the controls. Our findings suggest that inflammatory reactions represented by the BA occur in the phase of clinical improvement. Since burst-stimulating activity was found in t…
Liver Perfusate Natural Killer Cells from Deceased Brain Donors and Association with Acute Cellular Rejection after Liver Transplantation: A Time-to-…
2019
Background The ability to predict which recipients will successfully complete their posttransplant clinical course, which is crucial for liver transplant (LT) programs. The assessment of natural killer (NK) cell subset determined by flow cytometry from a monocentric series of consecutive liver perfusates could help identify risk factors portending adverse LT outcomes. Methods Liver perfusates were collected during the back-table surgical time after the procurement procedures for donors after brain death. Lymphocytic concentrations and phenotypes were matched with donors after brain death characteristics and indications, timing, surgical techniques, outcomes, and biopsy-proven acute cellular…
Conservative vs. Surgical Management of Post-Traumatic Epidural Hematoma: A Case and Review of Literature
2015
Patient: Male, 30 Final Diagnosis: Acute epidural hematoma Symptoms: — Medication: — Clinical Procedure: Observation Specialty: Neurosurgery Objective: Unusual clinical course Background: Trauma is the leading cause of death in people younger than 45 years and head injury is the main cause of trauma mortality. Although epidural hematomas are relatively uncommon (less than 1% of all patients with head injuries and fewer than 10% of those who are comatose), they should always be considered in evaluation of a serious head injury. Patients with epidural hematomas who meet surgical criteria and receive prompt surgical intervention can have an excellent prognosis, presumably owing to limited unde…
Efficacy of Rapamycin as Inducer of Hb F in Primary Erythroid Cultures from Sickle Cell Disease and β-Thalassemia Patients.
2015
Phenotypic improvement of hemoglobinopathies such as sickle cell disease and β-thalassemia (β-thal) has been shown in patients with high levels of Hb F. Among the drugs proposed to increase Hb F production, hydroxyurea (HU) is currently the only one proven to improve the clinical course of these diseases. However, Hb F increase and patient's response are highly variable, indicating that new pharmacological agents could be useful for patients not responding to HU or showing a reduction of response during long-term therapy. In this study we evaluated the efficacy of rapamycin, a lypophilic macrolide used for the prevention of acute rejection in renal transplant recipients, as an inducer of Hb…
Correlation of the chemiluminescence-activity of peripheral blood monocytes with CSF parameters of inflammation and the clinical course of patients w…
2009
– The chemiluminescence-activity (CL-A) of peripheral blood monocytes (MO) was measured in eight patients with lymphocytic meningitis or meningoencephalitis and compared to CSF parameters and the clinical course. The initial maximum CL-A was around four times above the control and decreased to normal values within approximately 20 days. Poor correlations were found when the CL-A was compared to CSF parameters in the total group of patients. With regard to the CSF parameters in individual patients the CL-A was closely related to the cell count, to a lesser degree to the protein content, but not to the IgG content. Finally, a very good correlation of the CL-A was found with the clinical cours…
Clinical course of rhinitis and changes in vivo and in vitro of allergic parameters in elderly patients: a long-term follow-up study
2012
Changes in rhinitis symptom severity tend to decrease with aging, but whether the decrease is associated with allergic skin test reactivity, serum total and specific IgE, and nasal eosinophils or determined only by aging is poorly understood. The aim of the study was to analyze sensitivity in vivo and in vitro some 15 years after primary testing, skin prick test (SPT), serum total and specific IgE, ratio sIgE/tIgE, and nasal eosinophils in order to evaluate changes due to age and changes due to the severity of rhinitis symptoms. One hundred and eight rhinitis patients who had been investigated in 1995 were re-interviewed and their current allergy re-assessed after a follow-up of 15 years. A…