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Current Opinion in Rheumatology Sep 2023Although the concept of systemic autoinflammatory diseases (SAIDs) is still very young, our knowledge about them is exponentially growing. In the current review, we aim... (Review)
Review
PURPOSE OF REVIEW
Although the concept of systemic autoinflammatory diseases (SAIDs) is still very young, our knowledge about them is exponentially growing. In the current review, we aim to discuss novel SAIDs and autoinflammatory pathways discovered in the last couple of years.
RECENT FINDINGS
Advances in immunology and genetics have led to the discovery of new pathways involved in autoinflammation, as well as several new SAIDs, including retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH syndrome), vacuoles, E1 enzyme, X-linked autoinflammatory somatic (VEXAS) syndrome, TBK1 deficiency, NEMO deleted exon 5 autoinflammatory syndrome (NDAS), and disabling pansclerotic morphea. Progress in immunobiology and genetics has also brought forth novel treatments for SAIDs. Personalized medicine has made significant progress in areas such as cytokine-targeted therapies and gene therapies. However, much work remains, especially in measuring and improving the quality of life in patients with SAIDs.
SUMMARY
In the current review, we discuss the novelties in the world of SAIDs, including mechanistic pathways of autoinflammation, pathogenesis, and treatment. We hope this review helps rheumatologists to gain an updated understanding of SAIDs.
Topics: Animals; Humans; Quality of Life; Simian Acquired Immunodeficiency Syndrome; Hereditary Autoinflammatory Diseases; Mutation
PubMed: 37433216
DOI: 10.1097/BOR.0000000000000953 -
HIV Medicine Nov 2023The European AIDS Clinical Society (EACS) guidelines were revised in 2023 for the 19th time, and all aspects of HIV care were updated.
BACKGROUND
The European AIDS Clinical Society (EACS) guidelines were revised in 2023 for the 19th time, and all aspects of HIV care were updated.
KEY POINTS OF THE GUIDELINES UPDATE
Version 12.0 of the guidelines recommend the same six first-line treatment options for antiretroviral treatment (ART)-naïve adults as versions 11.0 and 11.1: tenofovir-based backbone plus an unboosted integrase inhibitor or doravirine; abacavir/lamivudine plus dolutegravir; or dual therapy with lamivudine or emtricitabine plus dolutegravir. The long-acting section has been expanded in the ART and drug-drug interaction (DDI) panels. Tables for preferred and alternative ART in children and adolescents have been updated, as has the section on prevention of vertical transmission, particularly with new guidance for breastfeeding. A new DDI table has been included for the ART and anti-infective drugs used for opportunistic infections, sexually transmitted infections, and other infectious conditions; lenacapavir has been included in all DDI tables. New sections on alcohol use and patient-reported outcome measures (PROMs) have been included in the comorbidity panel, in addition to updates on many relevant topics, such as new resource guidance for deprescribing in people with HIV. Other sections, including travel, cognitive impairment, cancer screening, sexual health, and diabetes have also been revised extensively. The algorithm for the management of acute hepatitis C virus infection has been removed, as current guidelines recommend immediate treatment of all people with recently acquired hepatitis C virus. Updates on vaccination for hepatitis B virus and recommendations for simplification to tenofovir-free two-drug regimens in people with isolated anti-hepatitis B core antibodies are provided. In the opportunistic infections and COVID-19 panel, guidance on the management of COVID-19 in people with HIV has been updated according to the most up-to-date evidence, and a new section on monkeypox has been added.
CONCLUSIONS
In 2023, the EACS guidelines were updated extensively and now include several new sections. The recommendations are available as a free app, in interactive web format, and as a pdf online.
Topics: Adolescent; Adult; Child; Humans; Acquired Immunodeficiency Syndrome; AIDS-Related Opportunistic Infections; Anti-HIV Agents; Anti-Retroviral Agents; COVID-19; Hepatitis C; HIV Infections; Lamivudine; Tenofovir; Practice Guidelines as Topic
PubMed: 37849432
DOI: 10.1111/hiv.13542 -
The Journal of Dermatology Feb 2024Autoinflammatory diseases (AIDs) characterized by recurrent episodes of localized or systemic inflammation are disorders of the innate immune system. Skin lesions are... (Review)
Review
Autoinflammatory diseases (AIDs) characterized by recurrent episodes of localized or systemic inflammation are disorders of the innate immune system. Skin lesions are commonly found in AIDs and cutaneous vasculitis can coexist with AIDs and even present as the most striking feature. This review aims to focus on the frequent cutaneous vasculitis association in three monogenic AIDs including familial Mediterranean fever (FMF), deficiency of adenosine deaminase type 2 (DADA2), and the recently identified adult-onset VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. Cutaneous vasculitis in FMF is characterized by: (1) small-vessel vasculitis similar to IgA vasculitis with palpable purpura but increased intussusception complication and less vascular IgA deposit, and (2) cutaneous arteritis-like vasculitis presenting as subcutaneous nodules most often with higher glomerular involvement. DADA2 has a wide spectrum of clinical presentations ranging from fatal systemic vasculitis with multiple strokes, especially in pediatric patients, to limited cutaneous disease in middle-aged patients. DADA2 shares similar clinical and histopathological features with polyarteritis nodosa (PAN). As a result, DADA2 is commonly initially misdiagnosed as childhood PAN. Livedo racemosa reveals the most common cutaneous manifestation of cutaneous vasculitis in patients with DADA2. VEXAS syndrome is a life-threatening disease. A diagnosis of VEXAS syndrome should be strongly considered or could be made in patients with skin lesions characterized by Sweet syndrome-like eruption, livedo racemosa, concomitant relapsing polychondritis, deep venous thrombosis, pulmonary involvement, and progressive hematologic abnormalities such as myelodysplastic syndrome with a unique finding of cytoplasmic vacuoles in myeloid and erythroid precursor cells from bone marrow aspirate smear. As skin involvement is common in AIDs and may present as the most frequent manifestation, especially in DADA2 (70% to 90%) and VEXAS syndrome (83% to 91%), dermatologists play a crucial role in contributing to the early diagnosis of these AIDs with early initiation of the appropriate therapy to avoid progressing fatal outcomes.
Topics: Adult; Humans; Child; Middle Aged; Adenosine Deaminase; Livedo Reticularis; Intercellular Signaling Peptides and Proteins; Vasculitis; Polyarteritis Nodosa; Skin Diseases; Familial Mediterranean Fever; Mutation; Agammaglobulinemia; Myelodysplastic Syndromes; Skin Diseases, Genetic; Severe Combined Immunodeficiency
PubMed: 37955334
DOI: 10.1111/1346-8138.17030 -
Journal of the Association For Research... Jun 2024This perspective reviews the current state of the art and literature on tinnitus in children, prevalence and risk factors, clinical management, and future priorities for... (Review)
Review
This perspective reviews the current state of the art and literature on tinnitus in children, prevalence and risk factors, clinical management, and future priorities for healthcare provision and research. Most research in the field to date appears to be prevalence studies, which have reached dramatically different estimates; this reflects the lack of a standard language when asking about the presence of tinnitus, or how bothersome, distressing, or negatively impacting it is for the child. Estimates are also likely affected by a lack of awareness of tinnitus amongst children and parents. Children are less likely to spontaneously report tinnitus than adults, and parents are often unaware their child could even develop tinnitus, considering it a disease of older age for example. It is critical that children are asked and learn about tinnitus. In hearing clinics, clinicians should routinely ask about all children about tinnitus and offer tinnitus care and settings that are child- and family-friendly. As well as asking directly, clinicians should be alert to soft signs of tinnitus such as unexplained listening, speech perception, concentration difficulties, worry or anxiety, or difficulties completing hearing tests or using hearing aids. The recently developed impact of Tinnitus in Children Questionnaire (iTICQ) can then be used to assess problems that are most commonly core to children's experience of tinnitus. Clinical guidelines for tinnitus in children are few but provide recommendations for additional paediatric questionnaires and alternative assessments and for a range of treatment options. Of note, however, is the lack of clinical trials and, therefore, evidence of the effectiveness of any treatment for tinnitus in children. Significant and concerted work is therefore needed to raise awareness of tinnitus in children, understand the scale of clinical need, and standardise and evaluate clinical management options.
Topics: Tinnitus; Humans; Child; Risk Factors; Prevalence
PubMed: 38709437
DOI: 10.1007/s10162-024-00944-3 -
Frontiers in Neurology 2023Status epilepticus is one of the most common life-threatening neurological emergencies in childhood with the highest incidence in the first 5 years of life and high... (Review)
Review
Status epilepticus is one of the most common life-threatening neurological emergencies in childhood with the highest incidence in the first 5 years of life and high mortality and morbidity rates. Although it is known that a delayed treatment and a prolonged seizure can cause permanent brain damage, there is evidence that current treatments may be delayed and the medication doses administered are insufficient. Here, we summarize current knowledge on treatment of convulsive status epilepticus in childhood and propose a treatment algorithm. We performed a structured literature search PubMed and ClinicalTrails.org and identified 35 prospective and retrospective studies on children <18 years comparing two and more treatment options for status epilepticus. The studies were divided into the commonly used treatment phases. As a first-line treatment, benzodiazepines buccal/rectal/intramuscular/intravenous are recommended. For status epilepticus treated with benzodiazepine refractory, no superiority of fosphenytoin, levetirazetam, or phenobarbital was identified. There is limited data on third-line treatments for refractory status epilepticus lasting >30 min. Our proposed treatment algorithm, especially for children with SE, is for in and out-of-hospital onset aids to promote the establishment and distribution of guidelines to address the treatment delay aggressively and to reduce putative permanent neuronal damage. Further studies are needed to evaluate if these algorithms decrease long-term damage and how to treat refractory status epilepticus lasting >30 min.
PubMed: 37456627
DOI: 10.3389/fneur.2023.1175370