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Nature Jun 2023Embryo-derived tissue-resident macrophages are the first representatives of the haematopoietic lineage to emerge in metazoans. In mammals, resident macrophages originate... (Review)
Review
Embryo-derived tissue-resident macrophages are the first representatives of the haematopoietic lineage to emerge in metazoans. In mammals, resident macrophages originate from early yolk sac progenitors and are specified into tissue-specific subsets during organogenesis-establishing stable spatial and functional relationships with specialized tissue cells-and persist in adults. Resident macrophages are an integral part of tissues together with specialized cells: for instance, microglia reside with neurons in brain, osteoclasts reside with osteoblasts in bone, and fat-associated macrophages reside with white adipocytes in adipose tissue. This ancillary cell type, which is developmentally and functionally distinct from haematopoietic stem cell and monocyte-derived macrophages, senses and integrates local and systemic information to provide specialized tissue cells with the growth factors, nutrient recycling and waste removal that are critical for tissue growth, homeostasis and repair. Resident macrophages contribute to organogenesis, promote tissue regeneration following damage and contribute to tissue metabolism and defence against infectious disease. A correlate is that genetic or environment-driven resident macrophage dysfunction is a cause of degenerative, metabolic and possibly inflammatory and tumoural diseases. In this Review, we aim to provide a conceptual outline of our current understanding of macrophage physiology and its importance in human diseases, which may inform and serve the design of future studies.
Topics: Animals; Humans; Cell Differentiation; Cell Lineage; Hematopoietic Stem Cells; Macrophages; Microglia; Monocytes; Organ Specificity; Disease
PubMed: 37344646
DOI: 10.1038/s41586-023-06002-x -
Trends in Cell Biology Jun 2020Cell death is an essential feature of development in multicellular organisms, a critical driver of degenerative diseases, and can be harnessed for treating some cancers.... (Review)
Review
Cell death is an essential feature of development in multicellular organisms, a critical driver of degenerative diseases, and can be harnessed for treating some cancers. Understanding the mechanisms governing cell death is critical for addressing its role in disease. Similarly, metabolism is essential for normal energy and biomolecule production, and goes awry in many diseases. Metabolism and cell death are tightly linked in the phenomenon of ferroptosis, a form of regulated cell death driven by peroxidation of phospholipids. Glutathione peroxidase 4 (GPX4) uses glutathione to protect cells from ferroptosis by eliminating phospholipid peroxides. Recent data have revealed glutathione/GPX4-independent axes for suppressing ferroptosis, and insight into the regulation of iron and mitochondria in ferroptosis. Ferroptosis has recently been implicated in multiple diseases, and functions as a tumor suppression mechanism. Ferroptosis induction is a promising approach in treating several conditions, including neoplastic diseases. Here, we summarize these recent advances.
Topics: Animals; Disease; Ferroptosis; Humans; Iron; Lipid Peroxides; Metabolic Networks and Pathways; Neoplasms
PubMed: 32413317
DOI: 10.1016/j.tcb.2020.02.009 -
Neurology India 2021Cervicogenic headache is a distinct type of headache described in 1980s by Sjaastad, a Norwegian neurologist. It is a not so uncommon headache, which is usually... (Review)
Review
BACKGROUND
Cervicogenic headache is a distinct type of headache described in 1980s by Sjaastad, a Norwegian neurologist. It is a not so uncommon headache, which is usually under-diagnosed resulting in suboptimal quality-of-life.
OBJECTIVE
The aim of this study was to review the current recommendations on diagnosis and management of cervicogenic headache.
METHODS AND MATERIAL
A PubMed search was done for the recent articles on 'cervicogenic headache' published in English literature with the aim of recognizing the current perspectives on cervicogenic headache.
RESULTS
The diagnosis of cervicogenic headache is based on clinical criteria mentioned by the International Headache Society (IHS) and Cervicogenic Headache International Study Group (CHISG). Cervical nerve block may confirm the nociceptive source in majority of cases and is included in CHISG criteria. Non-invasive diagnostic methods like echogenicity of muscles, diffusion tensor imaging (DTI) and single-photon emission tomography (SPECT) are proposed by some authors for avoiding complications associated with blocks. Mainstay of management is physical therapy. Surgical interventions for cervical degenerative disease may relief an associated headache but such interventions are not performed solely for cervicogenic headache.
CONCLUSION
Headaches with a cervical spine nociceptive source are increasingly being recognized. Current diagnostic criteria and management options are reviewed here.
Topics: Cervical Vertebrae; Diffusion Tensor Imaging; Headache; Humans; Post-Traumatic Headache
PubMed: 34003165
DOI: 10.4103/0028-3886.315992 -
JPMA. the Journal of the Pakistan... Mar 2022Augmentative and Alternative Communication is an aided or unaided means of communication which supports existing communication abilities of an individual or replaces... (Review)
Review
Augmentative and Alternative Communication is an aided or unaided means of communication which supports existing communication abilities of an individual or replaces natural speech due to any speech and language disorder. The deficit could be developmental or acquired such as autism spectrum disorder, cerebral palsy, learning difficulties, dysarthria, dyspraxia or due to any acquired neurological condition such as aphasia and other degenerative disorders. Furthermore, it may be due to surgical procedures such as laryngectomy. Alternate means of communication have also been successfully used with COVID-19 patients. These tools may include pictures, symbols, signs or voice output devices. Parents of children with special needs and medical professionals have been reluctant in implementing the approach due to certain misconceptions. The aim of this review is to summarize the current evidence for the use of Augmentative and Alternative Communication with a range of disorders in relation to in relation to Pakistan.
Topics: Autism Spectrum Disorder; COVID-19; Child; Communication; Communication Aids for Disabled; Communication Disorders; Humans; Language Therapy; Pakistan; Speech; Speech Therapy
PubMed: 35320253
DOI: 10.47391/JPMA.22-023 -
Trends in Cardiovascular Medicine Apr 2021Sickle cell disease (SCD) is the most common inherited blood disorder in the United States, and a global health problem. Pathological features of the abnormal hemoglobin... (Review)
Review
Sickle cell disease (SCD) is the most common inherited blood disorder in the United States, and a global health problem. Pathological features of the abnormal hemoglobin (HbS) result in 2 hallmarks of the disease - recurrent episodes of acute microvascular occlusion and chronic hemolytic anemia - that inflict continuous and insidious damage to multiple organs. With improved childhood survival, SCD in adults has evolved into a chronic degenerative disease with underlying damage to multiple organs including the heart and lungs. Cardiopulmonary complications, including cardiomyopathy, diastolic dysfunction, pulmonary hypertension (PH), and sudden cardiac death are the most common causes of morbidity and mortality. Awareness of the sickle-related cardiovascular phenotypes is important for screening, early diagnosis, and intervention of cardiac complications in this disorder.
Topics: Anemia, Sickle Cell; Cardiovascular Diseases; Cardiovascular System; Death, Sudden, Cardiac; Humans; Phenotype; Prognosis; Risk Assessment; Risk Factors
PubMed: 32139143
DOI: 10.1016/j.tcm.2020.02.002 -
Current Neurology and Neuroscience... Jul 2023Apraxia of speech (AOS) is a motor speech disorder that has long been recognized to occur secondary to acute neurologic insults and, more recently, to neurodegenerative... (Review)
Review
PURPOSE OF REVIEW
Apraxia of speech (AOS) is a motor speech disorder that has long been recognized to occur secondary to acute neurologic insults and, more recently, to neurodegenerative diseases as a harbinger for progressive supranuclear palsy and corticobasal syndrome. This article reviews recent findings regarding the clinic phenotypes of AOS, neuroimaging correlates, and the underlying disease processes.
RECENT FINDINGS
Two clinical subtypes of AOS map onto two underlying 4-repeat tauopathies. New imaging techniques have recently been applied to the study of progressive AOS. There is no data on the impact of behavioral intervention, although studies of nonfluent/agrammatic primary progressive aphasia that include patients with AOS suggest some benefit in speech intelligibility and maintenance. While recent findings suggest subtypes of AOS exist that are linked to molecular pathology and have important implications for disease progression, further research is needed to assess outcome of behavioral and other types of intervention.
Topics: Humans; Speech; Apraxias; Supranuclear Palsy, Progressive; Neuroimaging; Neurodegenerative Diseases
PubMed: 37269450
DOI: 10.1007/s11910-023-01275-1 -
Nutrients May 2021Coenzyme Q (CoQ) is an essential cofactor in oxidative phosphorylation (OXPHOS), present in mitochondria and cell membranes in reduced and oxidized forms. Acting as an... (Review)
Review
Coenzyme Q (CoQ) is an essential cofactor in oxidative phosphorylation (OXPHOS), present in mitochondria and cell membranes in reduced and oxidized forms. Acting as an energy transfer molecule, it occurs in particularly high levels in the liver, heart, and kidneys. CoQ is also an anti-inflammatory and antioxidant agent able to prevent the damage induced by free radicals and the activation of inflammatory signaling pathways. In this context, several studies have shown the possible inverse correlation between the blood levels of CoQ and some disease conditions. Interestingly, beyond cardiovascular diseases, CoQ is involved also in neuronal and muscular degenerative diseases, in migraine and in cancer; therefore, the supplementation with CoQ could represent a viable option to prevent these and in some cases might be used as an adjuvant to conventional treatments. This review is aimed to summarize the clinical applications regarding the use of CoQ in migraine, neurodegenerative diseases (including Parkinson and Alzheimer diseases), cancer, or degenerative muscle disorders (such as multiple sclerosis and chronic fatigue syndrome), analyzing its effect on patients' health and quality of life.
Topics: Biological Availability; Dietary Supplements; Humans; Migraine Disorders; Neoplasms; Neurodegenerative Diseases; Neuromuscular Diseases; Quality of Life; Ubiquinone
PubMed: 34067632
DOI: 10.3390/nu13051697 -
Brain : a Journal of Neurology Jun 2020The behavioural variant of frontotemporal dementia (bvFTD) is a frequent cause of early-onset dementia. The diagnosis of bvFTD remains challenging because of the limited... (Review)
Review
The behavioural variant of frontotemporal dementia (bvFTD) is a frequent cause of early-onset dementia. The diagnosis of bvFTD remains challenging because of the limited accuracy of neuroimaging in the early disease stages and the absence of molecular biomarkers, and therefore relies predominantly on clinical assessment. BvFTD shows significant symptomatic overlap with non-degenerative primary psychiatric disorders including major depressive disorder, bipolar disorder, schizophrenia, obsessive-compulsive disorder, autism spectrum disorders and even personality disorders. To date, ∼50% of patients with bvFTD receive a prior psychiatric diagnosis, and average diagnostic delay is up to 5-6 years from symptom onset. It is also not uncommon for patients with primary psychiatric disorders to be wrongly diagnosed with bvFTD. The Neuropsychiatric International Consortium for Frontotemporal Dementia was recently established to determine the current best clinical practice and set up an international collaboration to share a common dataset for future research. The goal of the present paper was to review the existing literature on the diagnosis of bvFTD and its differential diagnosis with primary psychiatric disorders to provide consensus recommendations on the clinical assessment. A systematic literature search with a narrative review was performed to determine all bvFTD-related diagnostic evidence for the following topics: bvFTD history taking, psychiatric assessment, clinical scales, physical and neurological examination, bedside cognitive tests, neuropsychological assessment, social cognition, structural neuroimaging, functional neuroimaging, CSF and genetic testing. For each topic, responsible team members proposed a set of minimal requirements, optimal clinical recommendations, and tools requiring further research or those that should be developed. Recommendations were listed if they reached a ≥ 85% expert consensus based on an online survey among all consortium participants. New recommendations include performing at least one formal social cognition test in the standard neuropsychological battery for bvFTD. We emphasize the importance of 3D-T1 brain MRI with a standardized review protocol including validated visual atrophy rating scales, and to consider volumetric analyses if available. We clarify the role of 18F-fluorodeoxyglucose PET for the exclusion of bvFTD when normal, whereas non-specific regional metabolism abnormalities should not be over-interpreted in the case of a psychiatric differential diagnosis. We highlight the potential role of serum or CSF neurofilament light chain to differentiate bvFTD from primary psychiatric disorders. Finally, based on the increasing literature and clinical experience, the consortium determined that screening for C9orf72 mutation should be performed in all possible/probable bvFTD cases or suspected cases with strong psychiatric features.
Topics: Delayed Diagnosis; Diagnosis, Differential; Female; Fluorodeoxyglucose F18; Frontotemporal Dementia; Humans; Magnetic Resonance Imaging; Male; Mental Disorders; Neuroimaging; Neurologic Examination; Neuropsychological Tests; Positron-Emission Tomography
PubMed: 32129844
DOI: 10.1093/brain/awaa018 -
International Journal of Molecular... Oct 2020Age-related macular degeneration (AMD) and glaucoma are degenerative conditions of the retina and a significant cause of irreversible blindness in developed countries.... (Review)
Review
Age-related macular degeneration (AMD) and glaucoma are degenerative conditions of the retina and a significant cause of irreversible blindness in developed countries. Alzheimer's disease (AD), the most common dementia of the elderly, is often associated with AMD and glaucoma. The cardinal features of AD include extracellular accumulation of amyloid β (Aβ) and intracellular deposits of hyper-phosphorylated tau (p-tau). Neuroinflammation and brain iron dyshomeostasis accompany Aβ and p-tau deposits and, together, lead to progressive neuronal death and dementia. The accumulation of Aβ and iron in drusen, the hallmark of AMD, and Aβ and p-tau in retinal ganglion cells (RGC), the main retinal cell type implicated in glaucoma, and accompanying inflammation suggest overlapping pathology. Visual abnormalities are prominent in AD and are believed to develop before cognitive decline. Some are caused by degeneration of the visual cortex, while others are due to RGC loss or AMD-associated retinal degeneration. Here, we review recent information on Aβ, p-tau, chronic inflammation, and iron dyshomeostasis as common pathogenic mechanisms linking the three degenerative conditions, and iron chelation as a common therapeutic option for these disorders. Additionally discussed is the role of prion protein, infamous for prion disorders, in Aβ-mediated toxicity and, paradoxically, in neuroprotection.
Topics: Alzheimer Disease; Amyloid beta-Peptides; Brain; Glaucoma; Humans; Macular Degeneration; Protein Aggregation, Pathological; Retina; Retinal Degeneration; Retinal Ganglion Cells; tau Proteins
PubMed: 33023198
DOI: 10.3390/ijms21197290 -
Frontiers in Immunology 2020Astrocytes play important roles in numerous central nervous system disorders including autoimmune inflammatory, hypoxic, and degenerative diseases such as Multiple... (Review)
Review
Astrocytes play important roles in numerous central nervous system disorders including autoimmune inflammatory, hypoxic, and degenerative diseases such as Multiple Sclerosis, ischemic stroke, and Alzheimer's disease. Depending on the spatial and temporal context, activated astrocytes may contribute to the pathogenesis, progression, and recovery of disease. Recent progress in the dissection of transcriptional responses to varying forms of central nervous system insult has shed light on the mechanisms that govern the complexity of reactive astrocyte functions. While a large body of research focuses on the pathogenic effects of reactive astrocytes, little is known about how they limit inflammation and contribute to tissue regeneration. However, these protective astrocyte pathways might be of relevance for the understanding of the underlying pathology in disease and may lead to novel targeted approaches to treat autoimmune inflammatory and degenerative disorders of the central nervous system. In this review article, we have revisited the emerging concept of protective astrocyte functions and discuss their role in the recovery from inflammatory and ischemic disease as well as their role in degenerative disorders. Focusing on soluble astrocyte derived mediators, we aggregate the existing knowledge on astrocyte functions in the maintenance of homeostasis as well as their reparative and tissue-protective function after acute lesions and in neurodegenerative disorders. Finally, we give an outlook of how these mediators may guide future therapeutic strategies to tackle yet untreatable disorders of the central nervous system.
Topics: Animals; Astrocytes; Central Nervous System; Central Nervous System Agents; Central Nervous System Diseases; Humans; Intercellular Signaling Peptides and Proteins; Molecular Targeted Therapy; Nerve Growth Factors; Phenotype; Signal Transduction
PubMed: 33117368
DOI: 10.3389/fimmu.2020.573256