Febrile Infection-Related Epilepsy Syndrome (FIRES) with Multifocal Subcortical Infarcts, A New Imaging Phenotype

2018 ◽  
Vol 49 (05) ◽  
pp. 347-352 ◽  
Author(s):  
Ai Tan
Keyword(s):  
Treatment Plan ◽  
Febrile Illness ◽  
Epileptic Encephalopathy ◽  
Unknown Etiology ◽  
Epilepsy Syndrome ◽  
Clinical Criteria ◽  
School Aged Children ◽  
Appropriate Treatment ◽  
Confirmatory Tests ◽  
Occipital Lobes

AbstractFebrile infection-related epilepsy syndrome (FIRES) is a catastrophic epileptic encephalopathy of unknown etiology which occurs predominantly in school-aged children, following a febrile illness. The term FIRES was first proposed in 2010 by van Baalen et al. The etiology of FIRES remains elusive, although most believed that it is likely related to inappropriate activation of the innate immune system. It is often a diagnosis of exclusion as it lacks specific clinical criteria and/or confirmatory tests. Familiarity with the range of imaging phenotypes associated with FIRES is crucial as this will assist timely recognition and institution of appropriate treatment plan. With this in mind, the author would like to present a rare case of FIRES with extensive subcortical infarcts, predominantly in the temporo-occipital lobes. This has never been reported before and may represent a new imaging phenotype of FIRES. A detailed literature review, focusing on the various pattern of imaging phenotypes, in relation to patients' age and clinical outcome, will also be included.

scholarly journals Dramatic Course of Paediatric Cryptogenic Febrile Infection-Related Epilepsy Syndrome with Unusual Chronic Phase Presentation—A Case Report with Literature Study

2021 ◽  
Vol 11 (8) ◽  
pp. 1030
Author(s):  
Natalia Rachfalska ◽  
Jerzy Pietruszewski ◽  
Justyna Paprocka
Keyword(s):  
Acute Phase ◽  
Cognitive Deficit ◽  
Chronic Phase ◽  
Febrile Illness ◽  
Refractory Status Epilepticus ◽  
Epileptic Encephalopathy ◽  
Epilepsy Syndrome ◽  
Literature Study ◽  
School Aged Children ◽  
Refractory Status

Febrile Infection-Related Epilepsy Syndrome (FIRES) is a catastrophic, extremely rare epileptic encephalopathy. It strikes previously healthy school-aged children and is usually cryptogenic. Its dramatic onset with refractory status epilepticus is always preceded by a nonspecific febrile illness. The seizure activity in FIRES may last for several weeks with little to no response to antiepileptic treatment, usually resulting in the usage of anaesthetics. This acute phase is followed by a chronic, refractory epilepsy and cognitive deficit, that persist for the rest of the patient’s life. Still to this day no definite cause has been described. In this study we review the current finding in FIRES and describe a case of a 4-year-old patient with a dramatic course of the acute phase in FIRES and unusual presentation of the chronic phase, which is dominated by extrapyramidal symptoms such as dystonia. This case highlights that the clinical presentation of FIRES may differ from those frequently described in literature.

Extinguishing Febrile Infection-Related Epilepsy Syndrome: Pipe Dream or Reality?

2020 ◽  
Vol 40 (02) ◽  
pp. 263-272 ◽  
Author(s):  
Eric T. Payne ◽  
Sookyong Koh ◽  
Elaine C. Wirrell
Keyword(s):  
Interleukin 1 ◽  
Treatment Strategies ◽  
Febrile Illness ◽  
Epileptic Encephalopathy ◽  
Epilepsy Syndrome ◽  
Collaborative Studies ◽  
High Incidence ◽  
Neurocognitive Outcomes ◽  
Children And Young Adults ◽  
Pipe Dream

AbstractFebrile infection-related epilepsy syndrome (FIRES) is a rare and devastating epileptic encephalopathy with historically abysmal neurocognitive outcomes, including a high incidence of mortality. It tends to affect children and young adults and is characterized by superrefractory status epilepticus following a recent febrile illness. Growing evidence suggests a heterogeneous etiology resulting in fulminant nonantibody-mediated neuroinflammation. For some children with FIRES, this aberrant neuroinflammation appears secondary to a functional deficiency in the endogenous interleukin-1 receptor antagonist. A precise etiology has not been identified in all FIRES patients, and current treatments are not always successful. Limited treatment evidence exists to guide choice, dosing, and duration of therapies. However, the ketogenic diet and certain targeted immunomodulatory treatments, including anakinra, appear safe and have been associated with relatively excellent clinical outcomes in some FIRES patients. Future prospective multicenter collaborative studies are needed to further delineate the FIRES heterogeneous disease pathophysiology and to determine the safety and efficacy of treatment strategies through a robust measurement of neurocognitive outcomes.

scholarly journals The effects of a preoperative multidisciplinary conference on outcomes for high-risk patients with challenging surgical treatment options: a retrospective study

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Masayoshi Koike ◽  
Mie Yoshimura ◽  
Yasushi Mio ◽  
Shoichi Uezono
Keyword(s):  
Patient Safety ◽  
Retrospective Study ◽  
High Risk ◽  
Treatment Plan ◽  
Treatment Options ◽  
High Risk Patients ◽  
Appropriate Treatment ◽  
Risk Patients ◽  
Treatment Plans ◽  
Multidisciplinary Conference

Abstract Background Surgical options for patients vary with age and comorbidities, advances in medical technology and patients’ wishes. This complexity can make it difficult for surgeons to determine appropriate treatment plans independently. At our institution, final decisions regarding treatment for patients are made at multidisciplinary meetings, termed High-Risk Conferences, led by the Patient Safety Committee. Methods In this retrospective study, we assessed the reasons for convening High-Risk Conferences, the final decisions made and treatment outcomes using conference records and patient medical records for conferences conducted at our institution from April 2010 to March 2018. Results A total of 410 High-Risk Conferences were conducted for 406 patients during the study period. The department with the most conferences was cardiovascular surgery (24%), and the reasons for convening conferences included the presence of severe comorbidities (51%), highly difficult surgeries (41%) and nonmedical/personal issues (8%). Treatment changes were made for 49 patients (12%), including surgical modifications for 20 patients and surgery cancellation for 29. The most common surgical modification was procedure reduction (16 patients); 4 deaths were reported. Follow-up was available for 21 patients for whom surgery was cancelled, with 11 deaths reported. Conclusions Given that some change to the treatment plan was made for 12% of the patients discussed at the High-Risk Conferences, we conclude that participants of these conferences did not always agree with the original surgical plan and that the multidisciplinary decision-making process of the conferences served to allow for modifications. Many of the modifications involved reductions in procedures to reflect a more conservative approach, which might have decreased perioperative mortality and the incidence of complications as well as unnecessary surgeries. High-risk patients have complex issues, and it is difficult to verify statistically whether outcomes are associated with changes in course of treatment. Nevertheless, these conferences might be useful from a patient safety perspective and minimize the potential for legal disputes.

Whole-Exome Sequencing Solved over 2-Decade Kidney Disease Enigma

Nephron ◽  
2021 ◽  
pp. 1-6
Author(s):  
Suramath Isaranuwatchai ◽  
Ankanee Chanakul ◽  
Chupong Ittiwut ◽  
Chalurmpon Srichomthong ◽  
Vorasuk Shotelersuk ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Kidney Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Treatment Plan ◽  
Unknown Etiology ◽  
Pediatric Case ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Whole Exome

Chronic kidney disease of unknown etiology (CKDu) has been a problem in renal practice as indefinite diagnosis may lead to inappropriate management. Here, we report a 54-year-old father diagnosed with CKDu at 33 years old and his 8-year-old son with steroid-resistant nephrotic syndrome. Using whole-exome sequencing, both were found to be heterozygous for c.737G>A (p.Arg246Gln) in LMX1B. The diagnosis of LMX1B-associated nephropathy has led to changes in the treatment plan with appropriate genetic counseling. The previously reported cases with this particular mutation were also reviewed. Most children with LMX1B-associated nephropathy had nonnephrotic proteinuria with normal renal function. Interestingly, our pediatric case presented with steroid-resistant nephrotic syndrome at 8 years old and progressed to ESRD requiring peritoneal dialysis at the age of 15 years. Our report emphasized the need of genetic testing in CKDu for definite diagnosis leading to precise management.

scholarly journals Quantification of platelet-bound IgG by 125I-Staphylococcal protein A in immune thrombocytopenic purpura and other thrombocytopenic disorders

Blood ◽  
1984 ◽  
Vol 63 (1) ◽  
pp. 154-161 ◽  
Author(s):  
GM Shaw ◽  
J Axelson ◽  
JG Maglott ◽  
AF LoBuglio
Keyword(s):  
Immune Thrombocytopenic Purpura ◽  
Protein A ◽  
Normal Subjects ◽  
Unknown Etiology ◽  
Staphylococcal Protein A ◽  
Thrombocytopenic Purpura ◽  
Clinical Criteria ◽  
Staphylococcal Protein ◽  
Wide Range ◽  
Immune Hemolytic Anemia

Abstract In this report we describe the use of an 125I-Staphylococcal protein A (SPA) assay to measure platelet-bound IgG in the evaluation of 62 thrombocytopenic patients. Platelets from 150 normal subjects were found to bind 146 +/- 112 molecules of SPA per platelet (mean +/- 2 SD). Nineteen of 20 patients with untreated immune thrombocytopenia had platelet IgG values above this range, with 15 of 20 having values above 1,000 molecules of SPA per platelet. Patients with immune thrombocytopenic purpura by clinical criteria, but who had failed conventional therapy (corticosteroids or splenectomy), had a wide range of platelet IgG levels: 4 of 20 had normal values, 6 of 20 had minimally elevated levels in the range seen with nonimmune thrombocytopenia, and 10 of 20 had much higher values. Fifteen patients with thrombocytopenia of apparent nonimmune origin and 7 others with chronic stable thrombocytopenia of unknown etiology were found to have platelet IgG levels within or only slightly above the normal range. Because of its simplicity, accuracy, and clinical correlation, the 125I- SPA assay provides an important new approach for studying platelet IgG in thrombocytopenic states. The data obtained with this technique are similar to those found in immune hemolytic anemia and suggest that the platelet-bound IgG so measured has pathophysiologic relevance in immune thrombocytopenic purpura.

scholarly journals Determinants of treatment-seeking behavior during self-reported febrile illness episodes using the socio-ecological model in Kilombero District, Tanzania

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Caroline M. Mburu ◽  
Salome A. Bukachi ◽  
Khamati Shilabukha ◽  
Kathrin H. Tokpa ◽  
Mangi Ezekiel ◽  
...  
Keyword(s):  
Health Care ◽  
Ecological Model ◽  
Febrile Illness ◽  
Sub Saharan Africa ◽  
Differential Diagnostics ◽  
Treatment Seeking ◽  
Zoonotic Infections ◽  
Appropriate Treatment ◽  
Seeking Behavior ◽  
Tract Infections

Abstract Background Febrile diseases in Sub-Saharan Africa cause acute and chronic illness. Co-infections are common and these diseases have a complex etiology that includes zoonoses. For the implementation of appropriate treatment and control strategies, determinants of lay treatment-seeking behavior by the affected communities need to be understood. The objective of this study was to explore, using the socio-ecological model, the determinants of treatment-seeking actions among self-identified febrile illness cases in the Kilombero District of Tanzania. Methods Thirty-nine in-depth interviews were conducted with 28 men and 11 women in three villages in Kilombero district. These villages were purposively selected due to malaria endemicity in the area, animal husbandry practices, and proximity to livestock-wildlife interaction, all risk factors for contracting febrile zoonotic infections. Thematic analysis was conducted on the interviews to identify the key determinants of treatment-seeking actions. Results Study participants attributed febrile illnesses to malaria, typhoid and urinary tract infections. Treatment-seeking behavior was an iterative process, influenced by individual, socio-cultural, ecological and policy factors. Age, expendable income, previous history with a febrile illness, perceptions on disease severity, seasonal livelihood activities and access to timely healthcare were some of the determinants. Self-treatment with pharmaceutical drugs and herbs was usually the initial course of action. Formal healthcare was sought only when self-treatment failed and traditional healers were consulted after the perceived failure of conventional treatment. Delays in seeking appropriate health care and the consultation of medically unqualified individuals was very common. Conclusion The results imply that treatment-seeking behavior is shaped by multiple factors across all levels of the socio-ecological model. Public policy efforts need to focus on facilitating prompt health care seeking through community education on the complicated etiology of febrile illnesses. Improved access to timely treatment and better differential diagnostics by health professionals are essential to ensure correct and appropriate treatment and to reduce reliance of patients on unqualified persons.

When things go wrong: Exploring possible mechanisms driving the progressive fibrosis phenotype in interstitial lung diseases

2021 ◽  
pp. 2004507
Author(s):  
Moisés Selman ◽  
Annie Pardo
Keyword(s):  
Pulmonary Fibrosis ◽  
Lung Diseases ◽  
Molecular Mechanisms ◽  
Lung Parenchyma ◽  
Interstitial Lung Diseases ◽  
Unknown Etiology ◽  
Clinical Behavior ◽  
The Past ◽  
Appropriate Treatment ◽  
Different Types

Interstitial lung diseases (ILD) comprise a large and heterogeneous group of disorders of known and unknown etiology characterised by diffuse damage of the lung parenchyma. In the past years, it has become evident that patients with different types of ILD are at risk of developing progressive pulmonary fibrosis known as pulmonary fibrosing ILD (PF-ILD). This is a phenotype behaving similar to idiopathic pulmonary fibrosis, the archetypical example of progressive fibrosis. PF-ILD is not a distinct clinical entity but describes a group of ILD with a similar clinical behavior. This phenotype may occur in diseases displaying distinct etiologies and different biopathology during their initiation and development. Importantly, these entities may have the potential for improvement or stabilisation prior to entering in the progressive fibrosing phase. The crucial questions are (1) why a subset of patients develops a progressive and irreversible fibrotic phenotype even with appropriate treatment, and (2) what the pathogenic mechanisms driving progression possibly are. We here provide a framework highlighting putative mechanisms underlying progression, including genetic susceptibility, aging, epigenetics, the structural fibrotic distortion, the aberrant composition and stiffness of the extracellular matrix, and the emergence of distinct profibrotic cell subsets. Understanding the cellular and molecular mechanisms behind PF-ILD will provide the basis for identifying risk factors and appropriate therapeutical strategies.

Updates in insomnia diagnosis and treatment

2019 ◽  
Vol 54 (4-5) ◽  
pp. 275-289 ◽  
Author(s):  
Scott Bragg ◽  
JJ Benich ◽  
Natalie Christian ◽  
Josh Visserman ◽  
John Freedy
Keyword(s):  
Drug Therapy ◽  
Behavioral Therapy ◽  
Treatment Plan ◽  
Treatment Options ◽  
First Line ◽  
Safety Concerns ◽  
Diagnostic And Statistical Manual ◽  
First Line Therapy ◽  
Appropriate Treatment ◽  
Central Nervous System Depression

Introduction Insomnia is the most commonly reported sleep disorder and remains undertreated in many patients. New changes to the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, have changed the way insomnia is diagnosed. In patients who suffer from insomnia, a number of available treatment options exist including both behavioral therapy and medications. Literature Review: First line therapy for insomnia should always include behavioral modifications such as sleep hygiene and insomnia-oriented cognitive behavioral therapy. In patients deemed to need pharmacotherapy, first line medications include nonbenzodiazepine hypnotics (i.e., z-drugs) and antidepressants depending on the patients’ needs and comorbidities. The risk of next day impairment, parasomnias, and central nervous system depression are some of the most feared side effects with z-drugs. Second line drug therapy includes melatonin and suvorexant. Several concerns exist for suvorexant similar to other insomnia medications, but melatonin remains one of the safest medication alternatives. Other medication options such as benzodiazepines, antihistamines, and antipsychotics should rarely be used because of weak effectiveness data or serious safety concerns. Discussion The most appropriate treatment plan needs to be tailored to meet the needs of individual patients. Many patient factors (e.g., age, other comorbidities, specific problems with sleep) need to be considered before prescribing drug therapy for patients suffering from insomnia. Medications with the best evidence and fewest safety concerns should be prioritized when clinicians work with patients to determine the most appropriate treatment plan. Conclusions Nondrug treatment should be the emphasis for managing insomnia, but several options exist for patients needing multimodal therapy to improve their symptoms and maximize their quality of life. Z-drugs and antidepressants are first line medications options, but other options may be considered when tailored to individual patients. Medications should only be used intermittently and short term until nondrug treatments help to change a patient’s sleep routine.

scholarly journals Zika Virus: Diagnostics for an Emerging Pandemic Threat

2016 ◽  
Vol 54 (4) ◽  
pp. 860-867 ◽  
Author(s):  
Jesse J. Waggoner ◽  
Benjamin A. Pinsky
Keyword(s):  
Dengue Virus ◽  
Zika Virus ◽  
Chikungunya Virus ◽  
Febrile Illness ◽  
Zikv Infection ◽  
Content Type ◽  
Clinical Criteria ◽  
Virus Diagnostics ◽  
Pandemic Threat

Zika virus (ZIKV) is anAedesmosquito-borne flavivirus that emerged in Brazil in 2015 and then rapidly spread throughout the tropical and subtropical Americas. Based on clinical criteria alone, ZIKV cannot be reliably distinguished from infections with other pathogens that cause an undifferentiated systemic febrile illness, including infections with two common arboviruses, dengue virus and chikungunya virus. This minireview details the methods that are available to diagnose ZIKV infection.

Approach to Radiculopathy

2021 ◽  
Vol 41 (06) ◽  
pp. 760-770
Author(s):  
Rafid Mustafa ◽  
Narayan R. Kissoon
Keyword(s):  
Low Back Pain ◽  
Back Pain ◽  
Treatment Approach ◽  
Treatment Plan ◽  
Treatment Options ◽  
Accurate Diagnosis ◽  
Clinical Approach ◽  
Low Back ◽  
Appropriate Treatment ◽  
Neurology Clinic

AbstractLow back pain and neck pain, often with associated radiculopathy, are two of the most common reasons for referral to the outpatient neurology clinic. A thorough clinical evaluation remains paramount in establishing an accurate diagnosis and subsequently an appropriate treatment plan. In this article, we review anatomic considerations for spondylotic radiculopathy; outline the clinical approach for the evaluation of these patients, including discussion of electrodiagnostic and imaging modalities; and address treatment options based on a stratified treatment approach.

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