All-trans Retinoic Acid-Induced Isolated Myocarditis: A Case Report and Review of the Literature.
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ABSTRACT:
SUBMITTER: Karakulak UN
PROVIDER: S-EPMC8299770 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Bullous pemphigoid (BP) is a rare, life-threatening autoimmune blistering disease with pruritus and tension blisters/bullous as the main clinical manifestations. Glucocorticosteroids are the main therapeutic agents for it, but their efficacy is poor in some patients. Tofacitinib, a small molecule agent that inhibits JAK1/3, has shown incredible efficacy in a wide range of autoimmune diseases and maybe a new valuable treatment option for refractory BP. To report a case of refractory BP successfully treated with tofacitinib, then explore the underlying mechanism behind the treatment, and finally review similarities to other cases reported in the literature. Case report and literature review of published cases of successful BP treatment with JAK inhibitors. The case report describes a 73-year-old male with refractory BP that was successfully managed with the combination therapy of tofacitinib and low-dose glucocorticoids for 28 weeks. Immunohistochemistry and RNA sequencing were performed to analyze the underlying mechanism of tofacitinib therapy. A systematic literature search was conducted to identify other cases of treatment with JAK inhibitors. Throughout the 28-week treatment period, the patient experienced clinical, autoantibody and histologic resolution. Immunohistochemical analysis showed tofacitinib significantly decreased the pSTAT3 and pSTAT6 levels in the skin lesions of this patient. RNA sequencing and immunohistochemical testing of lesion samples from other BP patients identified activation of the JAK-STAT signaling pathway. Literature review revealed 17 previously reported cases of BP treated with four kinds of JAK inhibitors successfully, including tofacitinib (10), baricitinib (1), upadacitinib (3) and abrocitinib (3). Our findings support the potential of tofacitinib as a safe and effective treatment option for BP. Larger studies are underway to better understand this efficacy and safety.
2024-11-13 | GSE278926 | GEO
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Project description:BackgroundIntestinal Ganglioneuromatosis (IG) is a rare disorder of the enteric nervous system. In pediatric age it is often associated with genetic syndromes such as Neurofibromatosis 1 (NF1), multiple endocrine neoplasia type 2B (MEN2B) and Cowden syndrome (PTEN mutation), and ganglioneuromas (GNs) may be sometimes the first sign of the disease. Isolated GNs are rare and sporadic. Clinical symptom vary and depend on the size and on the location of the GNs. This disorder affects intestinal motility and it, consequently, causes changes in bowel habits, abdominal pain, occlusive symptoms and rarely lower gastrointestinal bleeding secondary to ulceration of the intestinal mucosa. On the other hand, patients can remain asymptomatic for many years.Case presentationWe describe a 9-year-old boy referred to our emergency department for right lower quadrant abdominal pain. No familial history for gastrointestinal disorders. No history of fever or weight loss. At physical examination, he had diffused abdominal pain. Abdominal ultrasonography showed a hypoechoic formation measuring 41.8 mm by 35 mm in the right lower quadrant of the abdomen. Routine blood tests were normal, but fecal occult blood test was positive. Abdominal TC confirmed the hypodense formation, of about 5 cm in transverse diameter, in the right hypochondrium that apparently invaginated in the caecum-last ileal loop. Colonoscopy showed in the cecum an invaginated polypoid lesion of the terminal ileal loop. Laparoscopic resection of the polypoid lesion was performed. Histological diagnosis of the large neoplasm observed in the terminal ileum was diffuse ganglioneuromatosis. NF1, RET and PTEN gene tests resulted negative for specific mutations. At the 1 year follow-up, the patient presented good general condition and blood tests, fecal occult blood test, esophagogastroduodenoscopy, colonoscopy and MR-enterography were negative.ConclusionsOnly few cases are reported in literature of IG in pediatric age. Although rare, the present case suggests that this disorder must be taken in consideration in every patient with GI symptoms such as abdominal pain, constipation, lower intestinal bleeding, in order to avoid a delayed diagnosis.
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Project description:IntroductionAcute promyelocytic leukemia (APL) is characterized by the PML::RARa gene fusion and treatment consists of all-trans retinoic acid (ATRA). Rarely, genetic APL variants have been described which are insensitive to ATRA treatment and are therefore associated with a worse prognosis. Rapid identification of the APL variant is essential to start the correct treatment.Case presentationHere, we present a case of a 66-year-old male patient with weight loss and arthralgia. Laboratory results showed an anemia and mild leukocytosis with predominantly monocytes. Bone marrow investigation unexpectedly revealed a t(11;17)(q23;q21). This raised suspicion of an ATRA-resistant APL. By demonstrating the ZBTB16::RARa gene fusion, the diagnosis was confirmed.ConclusionThis case study emphasizes the importance of integrated diagnostics and provides guidance to recognize the ZBTB16::RARa APL, which is the most prevalent ATRA-resistant APL. Furthermore, an overview of other genetic APL variants is presented and how to treat these uncommon diseases in clinical practice.
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Project description:Introduction: Anti-PD1 agents are widely used in the treatment of solid tumors. This has prompted the recognition of a class of immune-related adverse events (irAEs), due to the activation of autoimmune T-cells. Pembrolizumab is an anti-PD1 agent, which has been related to an increased risk of various neurological irAE (n-irAEs). Here, we present a rare case of pembrolizumab-induced neuropathy of cranial nerves. Case Report: A 72-year-old patient was diagnosed with a lung adenocarcinoma in February 2018 (EGFR-, ALK-, and PDL1 90%). According to the molecular profile, pembrolizumab was started. After three administrations, the patient developed facial paresis, ptosis, ophthalmoplegia, and dysphonia. As brain metastases and paraneoplastic markers were excluded, a drug-related disorder was suspected and pembrolizumab was discontinued. A nerve conduction study and electromyography excluded signs of neuropathy and myopathy at four limbs, and repetitive nerve stimulation was negative. However, altered blink reflex and nerve facial conduction were consistent with an acute neuropathy of the cranial district. Thus, the patient was treated with two cycles of intravenous immunoglobulins (IVIg), which rapidly allowed improvement of both symptoms and neurophysiological parameters. However, the patient died in October 2018 for a progression of lung tumor. Discussion: Only 16 cases of pembrolizumab-related neuropathies have been described so far. Our case is of particular interest for the isolated involvement of cranial nerves and the prompt response to IVIg. Conclusion: N-irAEs are insidious conditions that require solid knowledge of onco-immunotherapy complications: it is mandatory not to delay any treatment that would potentially modify the course of a neurological complication.
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Project description:Nutritional excess of vitamin A, a precursor for retinoic acid (RA), causes premature epiphyseal fusion, craniosynostosis, and light-dependent retinopathy. Similarly, homozygous loss-of-function mutations in CYP26B1, one of the major RA-metabolizing enzymes, cause advanced bone age, premature epiphyseal fusion, and craniosynostosis. In this paper, a patient with markedly accelerated skeletal and dental development, retinal scarring, and autism-spectrum disease is presented and the role of retinoic acid in longitudinal bone growth and skeletal maturation is reviewed. Genetic studies were carried out using SNP array and exome sequencing. RA isomers were measured in the patient, family members, and in 18 age-matched healthy children using high-performance liquid chromatography coupled to tandem mass spectrometry. A genomic SNP array identified a novel 8.3 megabase microdeletion on chromosome 10q23.2-23.33. The 79 deleted genes included CYP26A1 and C1, both major RA-metabolizing enzymes. Exome sequencing did not detect any variants that were predicted to be deleterious in the remaining alleles of these genes or other known retinoic acid-metabolizing enzymes. The patient exhibited elevated plasma total RA (16.5 vs. 12.6±1.5?nM, mean±SD, subject vs. controls) and 13-cisRA (10.7?nM vs. 6.1±1.1). The findings support the hypothesis that elevated RA concentrations accelerate bone and dental maturation in humans. CYP26A1 and C1 haploinsufficiency may contribute to the elevated retinoic acid concentrations and clinical findings of the patient, although this phenotype has not been reported in other patients with similar deletions, suggesting that other unknown genetic or environmental factors may also contribute.
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Project description:A 16-year-old patient presented with acute myocarditis after gastroenteritis. His ECGs showed STEMI-like evolutionary changes. Serial troponin measurement was maximum on 3rd day. Echocardiography showed a mildly reduced ejection fraction (45%). He made an uneventful recovery after appropriate treatment. After one-month follow-up, his ECG and echo returned to normal.
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Project description:According to recent literatures, myocarditis is an uncommon side effect of mRNA vaccines against COVID-19. On the other hand, myocarditis after adenovirus based vaccine is rarely reported. Here we report a middle-aged healthy female who had acute fulminant perimyocarditis onset 2 days after the first dose of ChAdOx1 vaccine (AstraZeneca) without any other identified etiology. Detailed clinical presentation, serial ECGs, cardiac MRI, and laboratory data were included in the report. Possible mechanisms of acute myocarditis after adenoviral vaccine was reviewed and discussed. To our knowledge, a few cases of myocarditis after Ad26.COV2.S vaccine were reported, and this is the first case report after ChAdOx1 vaccine.
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Project description:BackgroundImmunotherapy offers new hope for cancer patients but presents new medical challenges for healthcare workers in terms of the management of immune-related adverse events (irAEs). The clinical data of two patients with advanced thymoma (T) admitted to the Fujian Cancer Hospital who developed fulminant myocarditis after undergoing immunosuppressant therapy were analyzed retrospectively, and the relevant literature was reviewed. This study aims to examine treatment of thymic epithelial tumors (TETs)-associated immune myocarditis.Case descriptionAn online search was conducted to retrieve relevant full-text articles, and the selected articles were assessed. In total, 13 articles, comprising the data of 113 patients, were included in an analysis to evaluate the efficacy of immunotherapy. Of the 113 patients, 19 had T and 94 had thymic carcinoma (TC). Of the 19 patients with T, 10 (52.6%) achieved a partial response (PR), 8 (42.1%) had stable disease (SD), and 1 (5.3%) had progressive disease (PD). Of the 94 patients with TC, 1 (1.1%) achieved a complete response (CR), 20 (21.3%) achieved a PR, 51 (54.3%) had SD, and 22 (23.4%) had PD. Five articles reported that fulminant myocarditis developed in nine thymic epithelioma patients who were treated with immunosuppressive agents. Two TC patients who presented with fulminant myocarditis were treated with high-dose corticosteroid therapy and underwent pacemaker insertion; none of the patients died of immune myocardial toxicity. However, of the seven T patients who received high-dose corticosteroid therapy and immunoglobulin therapy, and underwent pacemaker implantation, three survived and four died.ConclusionsImmunotherapy has shown promising results in the treatment of patients with refractory or relapsed TETs. Due to their susceptibility to paraneoplastic autoimmunity, TET patients are at a higher risk of developing severe irAEs than patients with other types of cancer. Given the relatively high morbidity and mortality of irAEs, the administration of immune checkpoint inhibitors (ICIs) to treat TETs should be balanced against the clinical response and the precipitation of potentially severe irAEs.
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