Introduction to dementia
Joanne Brooke in Dementia in Prison, 2020
Korsakoff’s syndrome is the most well-known form of ARBD, although is less common than other forms of ARBD such as alcoholic dementia (Ridley et al., 2013). Korsakoff’s syndrome often develops as part of a condition known as Wernicke-Korsakoff syndrome. This consists of two separate but related stages: Wernicke’s encephalopathy followed by Korsakoff’s syndrome and Wernicke-Korsakoff syndrome, which is diagnosed in 1 in 8 people with alcoholism. However, not everyone has a clear case of Wernicke’s encephalopathy before Korsakoff’s syndrome develops (Oudman et al., 2014). Encephalopathy refers to permanent or temporary brain damage, disorder or disease, which affects the brain’s function or structure and may be degenerative. The primary symptom is an altered mental status. Wernicke’s encephalopathy usually develops suddenly, often after abrupt and untreated withdrawal from alcohol. It has a range of different symptoms, but they may not be obvious, and it can be difficult to make a diagnosis (Oudman et al., 2014).
Kearns–Sayre syndrome
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop in Atlas of Inherited Metabolic Diseases, 2020
In 1995, Kearns and Sayre [1] reported a syndrome of retinitis pigmentosa, external ophthalmoplegia, and complete heart block. It has for some time been recognized as an encephalomyopathy with variable neurologic manifestations, including cerebellar ataxia, muscle weakness, sensorineural deafness, and mental deterioration [2]. There may be elevation of the protein in CSF to values over 100 mg/dL. Muscle biopsy reveals ragged red fibers [3]. Lestienne and Ponsot [4], Holt and colleagues [5], and Zeviani et al. [6], in 1988, reported deletions in the DNA of mitochondria in biopsied muscle. The common deletion approximates 5 kb. The disease is virtually always the result of spontaneous new mutation. Cerebral deficiency of folate has been reported in this disease, and a favorable response to treatment with folic acid was observed [7].
Infection in the Hematopoeitic Stem Cell Transplant Recipient with Autoimmune Disease
Richard K. Burt, Alberto M. Marmont in Stem Cell Therapy for Autoimmune Disease, 2019
Macrophage activation syndrome (MAS) is a potentially life-threatening complication of JCA that is seen almost exclusively in the systemic-onset type. MAS may be precipitated by viral infections, changes in medications, and/or autologous stem cell transplantation. This syndrome, which often mimics overwhelming infection, is characterized by the sudden onset of sustained fever, generalized lymphadenopathy, hepatosplenomegaly, and coagulopathy. Encephalopathy, respiratory distress, and renal failure can occur. Associated laboratory abnormalities include a falling ESR, pancytopenia, elevated transaminases, low fibrinogen, elevated d-dimer, prolonged prothrombin and partial thromboplastin times, increased fasting triglyceride levels, and markedly increased serum ferritin levels. Demonstrating active phagocytosis of red blood cells and platelets by histiocytes in the bone marrow, lymph nodes, liver, or spleen supports the diagnosis. Prompt treatment with high dose corticosteroids may be successful, but cyclosporine or etoposide may be required. Successful outcome has also been reported with etanercept therapy. Antimicrobial therapy may be helpful in treating an inciting infectious agent, which should be rigorously sought.25
The safety of current pharmacotherapeutic strategies for osteosarcoma
Published in Expert Opinion on Drug Safety, 2021
Mariella Spalato, Antoine Italiano
The clinical presentation of encephalopathy has varied in different studies. The most common symptoms are confusion, which occurs in more than 80% of patients and ranges from transient lethargy or increased drowsiness to delirium; hallucination or psychosis, representing up to 30% of cases[64]; incontinence and muscle twitching in approximately 9% of patients[70]. Extrapyramidal and cerebellar symptoms [71,72], cranial nerve abnormalities, seizures, mutism, dysarthria and asterixis[73], and non-convulsive status epilepticus [74,75] are rarer and involve 5% of patients. IFO neurotoxicity has rarely been associated with prolonged psychopathological sequelae[76]. EEG is altered in up to 65% of treated patients. In some reports, EEG anomalies correlate with the severity of encephalopathy[60], but these data have not been consistently confirmed in literature[77]. The most common pattern is generalized slowing, but continuous δ activity with interposed sharp activity [78,79] or periodic patterns with generalized triphasic waves have also been described during symptomatic encephalopathy [68,69]. These changes can be transient and reversible [77,80]. Brain MRI and CT scans are usually normal [62,67,81,82]. No biochemical abnormalities have been correlated.
Combining locoregional CAR-T cells, autologous + allogeneic tumor lysate vaccination and levamisole in treatment of glioblastoma
Published in Immunopharmacology and Immunotoxicology, 2022
Meric A. Altinoz, Alp Ozpinar, Emily Hacker, Aysel Ozpinar
Treatment of glial tumors with immunotherapy is challenging as the features of an efficient immune response, such as inflammation and edema, can have detrimental effects when they occur in proximity to benign brain tissue [1]. In a murine experimental model, CAR T-cells targeting GD2 exerted a prominent efficacy in diffuse intrinsic pontine glioma (DIPG) xenograft models but inflammation surrounding the tumor during the early stages of anticancer activity caused hydrocephalus which killed some animals [25]. Furthermore, lethal encephalitis due to antigen presence in the cerebellum was witnessed after GD2 ganglioside CAR T-lymphocyte was employed in the treatment of neuroblastoma [26]. Rubin et al. analyzed the neurotoxicity associated with CAR T-lymphocyte treatment in 100 patients up to 2 months after transfusion [26]. The underlying malignancies were lymphoma (74%), myeloma (14%), leukemia (10%), and sarcoma (2%). The most frequently encountered neurological symptoms were encephalopathy, headache, tremor, aphasia, and focal weakness [27]. Hence, a close follow-up by a professional team including neurologists, brain surgeons, radiation and medical oncologists is crucial while employing such potently effective yet also potentially harmful immune treatment strategies.
COQ2 mutation associated isolated nephropathy in two siblings from a Chinese pedigree
Published in Renal Failure, 2021
Min Li, Zhihui Yue, Hongrong Lin, Haiyan Wang, Huamu Chen, Liangzhong Sun
The clinical manifestations of CoQ10 deficiency caused by different biosynthetic enzyme defects and the affected organs are not consistent, and different clinical phenotypes can be caused by the same synthetic enzyme deficiency [4]. Three groups of CoQ10 synthetic enzyme deficiencies were proposed by Acosta et al. [3]. The first group includes PDSS1, PDSS2, COQ2, COQ6, and ADCK4. Glomerular involvement manifests as SRNS, is a clinical feature that maybe present in the defects of these genes, together with or without neurological or systemic disorders. The second group encompasses COQ4, COQ7, and COQ9. The defects of these genes mainly manifest as encephalomyopathy. Glomerular impairment has never been displayed, although tubulopathy may be present. The third is the only pathogenic gene of ADCK3. Central nervous system (CNS) involvement is essential. Extra-CNS impairment has not been observed [5].
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