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Nature Reviews. Disease Primers Jun 2022Congenital diaphragmatic hernia (CDH) is a rare birth defect characterized by incomplete closure of the diaphragm and herniation of fetal abdominal organs into the chest... (Review)
Review
Congenital diaphragmatic hernia (CDH) is a rare birth defect characterized by incomplete closure of the diaphragm and herniation of fetal abdominal organs into the chest that results in pulmonary hypoplasia, postnatal pulmonary hypertension owing to vascular remodelling and cardiac dysfunction. The high mortality and morbidity rates associated with CDH are directly related to the severity of cardiopulmonary pathophysiology. Although the aetiology remains unknown, CDH has a polygenic origin in approximately one-third of cases. CDH is typically diagnosed with antenatal ultrasonography, which also aids in risk stratification, alongside fetal MRI and echocardiography. At specialized centres, prenatal management includes fetal endoscopic tracheal occlusion, which is a surgical intervention aimed at promoting lung growth in utero. Postnatal management focuses on cardiopulmonary stabilization and, in severe cases, can involve extracorporeal life support. Clinical practice guidelines continue to evolve owing to the rapidly changing landscape of therapeutic options, which include pulmonary hypertension management, ventilation strategies and surgical approaches. Survivors often have long-term, multisystem morbidities, including pulmonary dysfunction, gastroesophageal reflux, musculoskeletal deformities and neurodevelopmental impairment. Emerging research focuses on small RNA species as biomarkers of severity and regenerative medicine approaches to improve fetal lung development.
Topics: Endoscopy; Female; Hernias, Diaphragmatic, Congenital; Humans; Hypertension, Pulmonary; Lung; Pregnancy; Ultrasonography, Prenatal
PubMed: 35650272
DOI: 10.1038/s41572-022-00362-w -
Annals of Allergy, Asthma & Immunology... Dec 2021To review the different causes of secondary immunodeficiencies and provide clinicians with an updated overview of potential factors that contribute to immunodeficiency. (Review)
Review
OBJECTIVE
To review the different causes of secondary immunodeficiencies and provide clinicians with an updated overview of potential factors that contribute to immunodeficiency.
DATA SOURCES
Recent published literature obtained through PubMed database searches, including research articles, review articles, and case reports.
STUDY SELECTIONS
PubMed database searches were conducted using the following keywords: immunodeficiency, antibody deficiency, immunosuppressive drugs, genetic syndrome, malignancy, HIV infection, viral infection, secondary immunodeficiency, nutrition, prematurity, aging, protein-losing enteropathy, nephropathy, trauma, space travel, high altitude, and ultraviolet light. Studies published in the last decade and relevant to the pathogenesis, epidemiology, and clinical characteristics of secondary immunodeficiencies were selected and reviewed.
RESULTS
Researchers continue to investigate and report abnormal immune parameters in the different entities collectively known as secondary immunodeficiencies. Immunodeficiency might occur as a consequence of malnutrition, metabolic disorders, use of immunosuppressive medications, chronic infections, malignancies, severe injuries, and exposure to adverse environmental conditions. The neonate and the elderly may have decreased immune responses relative to healthy adults. Each of these conditions may present with different immune defects of variable severity. The acquired immunodeficiency syndrome results from infections by the human immunodeficiency virus, which targets CD4 T cells leading to defective immune responses. Rituximab is a monoclonal antibody that targets CD20 B cells, and its use might result in persistent hypogammaglobulinemia.
CONCLUSION
Clinicians should consider secondary immunodeficiencies in the differential diagnosis of a patient with recurrent infections and abnormal immunologic evaluation. The use of biological agents for the treatment of inflammatory conditions and malignancies is an increasingly important cause of secondary immunodeficiency.
Topics: Acquired Immunodeficiency Syndrome; HIV Infections; Humans; Immunologic Deficiency Syndromes; Immunosuppressive Agents; Malnutrition; Metabolic Diseases; Neoplasms; Persistent Infection; Wounds and Injuries
PubMed: 34481993
DOI: 10.1016/j.anai.2021.08.413 -
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 -
BMC Medicine Dec 2022Human immunodeficiency virus and acquired immune deficiency syndrome (HIV/AIDS) is still among the leading causes of disease burden and mortality in sub-Saharan Africa...
BACKGROUND
Human immunodeficiency virus and acquired immune deficiency syndrome (HIV/AIDS) is still among the leading causes of disease burden and mortality in sub-Saharan Africa (SSA), and the world is not on track to meet targets set for ending the epidemic by the Joint United Nations Programme on HIV/AIDS (UNAIDS) and the United Nations Sustainable Development Goals (SDGs). Precise HIV burden information is critical for effective geographic and epidemiological targeting of prevention and treatment interventions. Age- and sex-specific HIV prevalence estimates are widely available at the national level, and region-wide local estimates were recently published for adults overall. We add further dimensionality to previous analyses by estimating HIV prevalence at local scales, stratified into sex-specific 5-year age groups for adults ages 15-59 years across SSA.
METHODS
We analyzed data from 91 seroprevalence surveys and sentinel surveillance among antenatal care clinic (ANC) attendees using model-based geostatistical methods to produce estimates of HIV prevalence across 43 countries in SSA, from years 2000 to 2018, at a 5 × 5-km resolution and presented among second administrative level (typically districts or counties) units.
RESULTS
We found substantial variation in HIV prevalence across localities, ages, and sexes that have been masked in earlier analyses. Within-country variation in prevalence in 2018 was a median 3.5 times greater across ages and sexes, compared to for all adults combined. We note large within-district prevalence differences between age groups: for men, 50% of districts displayed at least a 14-fold difference between age groups with the highest and lowest prevalence, and at least a 9-fold difference for women. Prevalence trends also varied over time; between 2000 and 2018, 70% of all districts saw a reduction in prevalence greater than five percentage points in at least one sex and age group. Meanwhile, over 30% of all districts saw at least a five percentage point prevalence increase in one or more sex and age group.
CONCLUSIONS
As the HIV epidemic persists and evolves in SSA, geographic and demographic shifts in prevention and treatment efforts are necessary. These estimates offer epidemiologically informative detail to better guide more targeted interventions, vital for combating HIV in SSA.
Topics: Male; Female; Adult; Humans; Pregnancy; Adolescent; Young Adult; Middle Aged; HIV; Acquired Immunodeficiency Syndrome; Prevalence; Seroepidemiologic Studies; HIV Infections; Africa South of the Sahara
PubMed: 36529768
DOI: 10.1186/s12916-022-02639-z -
The Journal of Allergy and Clinical... Feb 2023Severe combined immunodeficiency (SCID) results from defects in the differentiation of hematopoietic stem cells into mature T lymphocytes, with additional lymphoid...
Severe combined immunodeficiency (SCID) results from defects in the differentiation of hematopoietic stem cells into mature T lymphocytes, with additional lymphoid lineages affected in particular genotypes. In 2014, the Primary Immune Deficiency Treatment Consortium published criteria for diagnosing SCID, which are now revised to incorporate contemporary approaches. Patients with typical SCID must have less than 0.05 × 10 autologous T cells/L on repetitive testing, with either pathogenic variant(s) in a SCID-associated gene, very low/undetectable T-cell receptor excision circles or less than 20% of CD4 T cells expressing naive markers, and/or transplacental maternally engrafted T cells. Patients with less profoundly impaired autologous T-cell differentiation are designated as having leaky/atypical SCID, with 2 or more of these: low T-cell numbers, oligoclonal T cells, low T-cell receptor excision circles, and less than 20% of CD4 T cells expressing naive markers. These patients must also have either pathogenic variant(s) in a SCID-associated gene or reduced T-cell proliferation to certain mitogens. Omenn syndrome requires a generalized erythematous rash, absent transplacentally acquired maternal engraftment, and 2 or more of these: eosinophilia, elevated IgE, lymphadenopathy, hepatosplenomegaly. Thymic stromal defects and other causes of secondary T-cell deficiency are excluded from the definition of SCID. Application of these revised Primary Immune Deficiency Treatment Consortium 2022 Definitions permits precise categorization of patients with T-cell defects but does not imply a preferred treatment strategy.
Topics: Humans; Severe Combined Immunodeficiency; Immunologic Deficiency Syndromes; CD4-Positive T-Lymphocytes; Thymus Gland; Receptors, Antigen, T-Cell
PubMed: 36456361
DOI: 10.1016/j.jaci.2022.10.022 -
HIV Medicine Sep 2022The European AIDS Clinical Society (EACS) Guidelines were revised in 2021 for the 17th time with updates on all aspects of HIV care.
BACKGROUND
The European AIDS Clinical Society (EACS) Guidelines were revised in 2021 for the 17th time with updates on all aspects of HIV care.
KEY POINTS OF THE GUIDELINES UPDATE
Version 11.0 of the Guidelines recommend six first-line treatment options for antiretroviral treatment (ART)-naïve adults: tenofovir-based backbone plus an unboosted integrase inhibitor or plus doravirine; abacavir/lamivudine plus dolutegravir; or dual therapy with lamivudine or emtricitabine plus dolutegravir. Recommendations on preferred and alternative first-line combinations from birth to adolescence were included in the new paediatric section made with Penta. Long-acting cabotegravir plus rilpivirine was included as a switch option and, along with fostemsavir, was added to all drug-drug interaction (DDI) tables. Four new DDI tables for anti-tuberculosis drugs, anxiolytics, hormone replacement therapy and COVID-19 therapies were introduced, as well as guidance on screening and management of anxiety disorders, transgender health, sexual health for women and menopause. The sections on frailty, obesity and cancer were expanded, and recommendations for the management of people with diabetes and cardiovascular disease risk were revised extensively. Treatment of recently acquired hepatitis C is recommended with ongoing risk behaviour to reduce transmission. Bulevirtide was included as a treatment option for the hepatitis Delta virus. Drug-resistant tuberculosis guidance was adjusted in accordance with the 2020 World Health Organization recommendations. Finally, there is new guidance on COVID-19 management with a focus on continuance of HIV care.
CONCLUSIONS
In 2021, the EACS Guidelines were updated extensively and broadened to include new sections. The recommendations are available as a free app, in interactive web format and as an online pdf.
Topics: Acquired Immunodeficiency Syndrome; Adolescent; Adult; Anti-HIV Agents; Anti-Retroviral Agents; Child; Female; HIV Infections; Humans; Lamivudine; Lipopeptides; COVID-19 Drug Treatment
PubMed: 35338549
DOI: 10.1111/hiv.13268 -
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 -
Paediatric Anaesthesia Mar 2020Four basic types of visual aids are used for teaching airway management and decision-making in simulated as well as in real clinical situations: universal algorithms,... (Review)
Review
Four basic types of visual aids are used for teaching airway management and decision-making in simulated as well as in real clinical situations: universal algorithms, sets of limited algorithms, concept-based cognitive aids, and checklists. The first three may represent an evolution in the understanding of the role of human error in both successful and failed airway management. Complex visual aids such as the American Society of Anesthesiology difficult airway algorithm may be more useful for teaching, while graphic cognitive aids like the Vortex may be more helpful for decision-making under stress. Not surprisingly, there is a lack of outcome studies, although some cognitive aids have been evaluated in simulation settings.
Topics: Airway Management; Audiovisual Aids; Checklist; Child; Humans; Pediatrics
PubMed: 31841250
DOI: 10.1111/pan.13789 -
Paediatric Respiratory Reviews Sep 2022Echinococcosis is a worldwide public health problem causing considerable paediatric morbidity and mortality in endemic areas. The presentation of cystic echinococcosis... (Review)
Review
Echinococcosis is a worldwide public health problem causing considerable paediatric morbidity and mortality in endemic areas. The presentation of cystic echinococcosis (CE) varies by age. Unlike adults, where hepatic involvement is common, pulmonary CE is the dominant site in the paediatric population. Pulmonary cysts are typically first seen on chest X-ray, either as an incidental finding or following respiratory symptoms after cyst rupture or secondary infection of the cyst. In children, pulmonary cysts have a broad differential diagnosis, and a definitive diagnosis relies on the combination of imaging, serology, and histology. In countries with high infectious burdens from diseases such as acquired immunodeficiency syndrome (AIDS) and tuberculosis (TB), the diagnosis is additionally challenging, as atypical infections are more common than in developed countries. Pulmonary CE is treated with a combination of surgery and chemotherapy.
Topics: Adult; Humans; Child; Echinococcosis, Pulmonary; Neglected Diseases; Diagnostic Imaging; Cysts; Diagnosis, Differential
PubMed: 34980576
DOI: 10.1016/j.prrv.2021.11.001