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Healthcare (Basel, Switzerland) May 2024During the COVID-19 pandemic, there have been multiple reports about an unforeseen surge in adolescents and young adults exhibiting sudden onset functional tic-like... (Review)
Review
During the COVID-19 pandemic, there have been multiple reports about an unforeseen surge in adolescents and young adults exhibiting sudden onset functional tic-like behaviors. This phenomenon has been mainly associated with the female gender and occasionally after exposure to social media content featuring similar patterns of functional tic-like behaviors. A significant portion of these individuals have been directed to specialist clinics for movement disorders with initial misdiagnoses of late-onset refractory Tourette syndrome. Distinguishing between rapid onset functional tic-like behaviors and neurodevelopmental tics as part of Tourette syndrome can be challenging; however, the differential diagnosis is facilitated by focusing on specific clinical and demographic factors, which we have explored in a systematic literature review. Compared to neurodevelopmental tics, functional tic-like behaviors typically present with a more abrupt and intense manifestation of symptoms, onset at a later age, higher prevalence among females, inability to suppress tics, coexisting anxiety and depression, and sometimes a history of exposure to social media content portraying tic-like behaviors of a similar nature. This novel manifestation of a functional neurological disorder may thus be viewed as an emerging neuropsychiatric condition potentially triggered/exacerbated by the psychosocial repercussions of the COVID-19 crisis.
PubMed: 38891181
DOI: 10.3390/healthcare12111106 -
Clinical Case Reports Jun 2024Vincristine therapy can be effective in refractory Immune thrombocytopenia (ITP) following COVID-19 vaccination. Our case report highlights the need for further research...
KEY CLINICAL MESSAGE
Vincristine therapy can be effective in refractory Immune thrombocytopenia (ITP) following COVID-19 vaccination. Our case report highlights the need for further research to establish standard management guidelines for COVID-19-vaccine-associated ITP.
ABSTRACT
Adult immune thrombocytopenia (ITP) can occur as a rare complication following several viral infections or a rare adverse event or complication of vaccination. In this paper, we report a case of a 39-year-old male patient with severe refractory ITP that began 4-weeks after receiving his third (booster) dose of the COVID-19 vaccine (BNT162b2, Pfizer-BioNTech). He was given oral dexamethasone 40 mg daily for 4 days followed by prednisone at 1 mg/kg (85 mg daily) for 10 days. In the following weeks, we attempted several other lines of therapy to treat his ITP, including anti-RhD immunoglobulin, which, unfortunately, caused moderate hemolysis requiring packed red blood cell transfusion, intravenous immunoglobulin (given at a subtherapeutic dose of 0.4 g/kg for only 1 day since it was not available), rituximab, and eltrombopag. The patient, unfortunately, showed no response to any of these treatments. This was an indicator to initiate salvage therapy with vincristine 2 mg weekly for 3 weeks. The patient's platelet count started to increase remarkably during the third week of vincristine and normalized after 4 weeks. We review the findings, clinical characteristics, and management approaches that were reported in the literature regarding COVID-19-vaccine-induced ITP. More in-depth research is needed to delineate standard guidelines for the management of such cases. This report underscores the importance of resorting to vincristine and eltrombopag as great options for severe and refractory ITP related to the COVID-19 vaccine.
PubMed: 38883219
DOI: 10.1002/ccr3.9070 -
Neurobiology of Disease Jun 2024Biallelic variants in the SPG11 gene account for the most common form of autosomal recessive hereditary spastic paraplegia characterized by motor and cognitive...
Biallelic variants in the SPG11 gene account for the most common form of autosomal recessive hereditary spastic paraplegia characterized by motor and cognitive impairment, with currently no therapeutic option. We previously observed in a Spg11 knockout mouse that neurodegeneration is associated with accumulation of gangliosides in lysosomes. To test whether a substrate reduction therapy could be a therapeutic option, we downregulated the key enzyme involved in ganglioside biosynthesis using an AAV-PHP.eB viral vector expressing a miRNA targeting St3gal5. Downregulation of St3gal5 in Spg11 knockout mice prevented the accumulation of gangliosides, delayed the onset of motor and cognitive symptoms, and prevented the upregulation of serum levels of neurofilament light chain, a biomarker widely used in neurodegenerative diseases. Importantly, similar results were observed when Spg11 knockout mice were administrated venglustat, a pharmacological inhibitor of glucosylceramide synthase expected to decrease ganglioside synthesis. Downregulation of St3gal5 or venglustat administration in Spg11 knockout mice strongly decreased the formation of axonal spheroids, previously associated with impaired trafficking. Venglustat had similar effect on cultured human SPG11 neurons. In conclusion, this work identifies the first disease-modifying therapeutic strategy in SPG11, and provides data supporting its relevance for therapeutic testing in SPG11 patients.
PubMed: 38876323
DOI: 10.1016/j.nbd.2024.106564 -
Cureus May 2024Thrombotic thrombocytopenic purpura (TTP) is a rare but potentially life-threatening condition characterized by fever, acute hemolysis, thrombocytopenia, renal...
Thrombotic thrombocytopenic purpura (TTP) is a rare but potentially life-threatening condition characterized by fever, acute hemolysis, thrombocytopenia, renal dysfunction, and CNS dysfunction. A peripheral smear shows schistocytes because of microangiopathy. It is extremely rare for TTP and systemic lupus erythematosus (SLE) to coexist. This report details an Indian female patient's uncommon clinical presentation of TTP linked to SLE. A 52-year-old woman presented to the emergency department with complaints of altered sensorium and weakness of the right side of the body. She was initially evaluated as a case of a cerebrovascular accident. CT brain imaging revealed multiple ischemic infarcts involving both cerebral hemispheres. MRI brain confirmed the same. During further evaluation, she was found to have hemolytic anemia, thrombocytopenia, and nephrotic range proteinuria. Immunological investigations confirmed SLE. A peripheral smear revealed schistocytes, and the PLASMIC score confirmed a high risk of TTP. The patient was treated with immunosuppressants, plasma exchange, and hemodialysis, along with other supportive measures. The patient showed a positive response to the therapy mentioned, with improved power and renal function. The patient denied a renal biopsy and was discharged after two weeks. This case report emphasizes the importance of the association between TTP and SLE.
PubMed: 38872677
DOI: 10.7759/cureus.60238 -
Cureus May 2024Thrombotic thrombocytopenic purpura (TTP) is clinical-pathological entity characterized by microangiopathic hemolytic anemia associated with end-organ...
Thrombotic thrombocytopenic purpura (TTP) is clinical-pathological entity characterized by microangiopathic hemolytic anemia associated with end-organ dysfunction. Traditionally, TTP was characterized by the classic pentad of fever, thrombocytopenia, hemolytic anemia, renal impairment, and neurological manifestations. However, this classic pentad is only observed in 40% of cases. We herein describe the case of a female patient who presented with epigastric pain and vomiting and found to have TTP without the classic pentad but with rapidly progressive renal dysfunction.
PubMed: 38872662
DOI: 10.7759/cureus.60259 -
Indian Pediatrics Jun 2024
Topics: Humans; Purpura, Thrombocytopenic, Idiopathic; Child
PubMed: 38872289
DOI: No ID Found -
BMC Nephrology Jun 2024TAFRO syndrome is a rare disorder that causes thrombocytopenia, generalized oedema, fever, organ enlargement, and renal impairment. Few reports have suggested an...
BACKGROUND
TAFRO syndrome is a rare disorder that causes thrombocytopenia, generalized oedema, fever, organ enlargement, and renal impairment. Few reports have suggested an association with vaccines, and few cases have undergone renal biopsy. TAFRO syndrome is often severe and fatal, and its cause is unknown. We report a case of TAFRO syndrome that occurred after vaccination with the coronavirus disease 2019 (COVID-19) vaccine.
CASE PRESENTATION
An 82-year-old woman received two doses of the BNT162b2 mRNA vaccine 3 weeks apart. Two weeks later, she was admitted to the hospital with oedema, accompanied with renal failure and thrombocytopenia. After close examination, she was diagnosed with TAFRO syndrome. She was treated with steroids, cyclosporine, and thrombopoietin receptor agonists. The patient was discharged after several months in remission.
CONCLUSIONS
Although an incident of TAFRO syndrome after COVID-19 vaccination has been previously reported, this is a rare case in which the patient went into remission and was discharged. A renal biopsy was also performed in this case, which was consistent with previous reports. The favorable treatment course for TAFRO syndrome provides valuable insights.
Topics: Humans; Female; Cyclosporine; Aged, 80 and over; Thrombocytopenia; BNT162 Vaccine; Immunosuppressive Agents; COVID-19 Vaccines; Edema; COVID-19
PubMed: 38872134
DOI: 10.1186/s12882-024-03630-x -
Seminars in Thrombosis and Hemostasis Jun 2024Among the acquired coagulation factor deficiencies, autoimmune coagulation factor deficiencies (AiCFD) are rare and result from autoantibody production against...
Among the acquired coagulation factor deficiencies, autoimmune coagulation factor deficiencies (AiCFD) are rare and result from autoantibody production against coagulation factors. In Japan, a nationwide survey on AiCFD has been conducted since 2009. Autoimmune factor XIII, factor VIII, von Willebrand factor, factor V, and factor X deficiencies (AiF13D, AiF8D, AiVWFD, AiF5D, and AiF10D, respectively) have been enacted as "designated intractable disease-282." The incidence of AiF8D, AiF13D, and AiF5D was 1.83, 0.044, and 0.038 per million people/year, respectively, whereas that of AiVWFD and AiF10D was not calculable owing to the small number of patients. AiF13D and AiF8D were often idiopathic, whereas AiVWFD was often associated with plasma cell neoplasms. Epistaxis was a characteristic symptom of AiVWFD, intramuscular bleeding was frequent in AiF13D and AiF8D, and subcutaneous bleeding (purpura) was frequent in AiF13D and AiF10D, although none were specific to any one disease. Differential diagnosis cannot be made based on bleeding symptoms alone; therefore, rapid and accurate testing is mandatory. Definitive diagnosis of AiCFD necessitates identifying the presence of coagulation factor "inhibitors" and/or "autoantibodies." Therefore, these tests should be performed upon unexplained severe acquired coagulation factor deficiencies. The mainstay of treatment for AiCFD was hemostatic therapy and autoantibody eradication therapy, which included the replacement of coagulation factors or "bypass" agents and administration of immunosuppressants. The rate of hemorrhagic death was high in AiF13D (13%), followed by AiF5D (7%) and Ai10D (5%); therefore, early diagnosis and optimal treatment are essential for AiCFDs. Given the unknown long-term prognosis, "intractable disease platform registries" have begun to accumulate in Japan.
PubMed: 38866039
DOI: 10.1055/s-0044-1787188 -
European Journal of Case Reports in... 2024Vaccine-induced immune thrombotic thrombocytopenia (VITT) is a rare life-threatening thrombotic reaction to COVID-19 vaccines.
BACKGROUND
Vaccine-induced immune thrombotic thrombocytopenia (VITT) is a rare life-threatening thrombotic reaction to COVID-19 vaccines.
CASE DESCRIPTION
Two young male first cousins, with a family history of idiopathic thrombocytopenic purpura, developed VITT after the Ad26.COV2.S vaccine. Both had a favourable clinical and analytical outcome. We investigated the genetic factors that could be associated with a genetic predisposition to VITT.
CONCLUSIONS
There are no published cases where the VITT patients were relatives. The genetic study did not reveal any likely pathogenic variants, although the prevalent polymorphism c.497A>G (p.(His166Arg)) in the gene was found in a homozygous state. More studies are required to better understand VITT's pathophysiology and any underlying genetic predispositions.
LEARNING POINTS
Vaccine-induced immune thrombotic thrombocytopenia (VITT), a rare but life-threatening disease, emerged with COVID-19 vaccines.The genetic analyses revealed the gene in a homozygous state.These cases may raise new questions about a family predisposition to VITT.
PubMed: 38846670
DOI: 10.12890/2024_004546 -
Cureus May 2024The management of immune thrombotic thrombocytopenic purpura (iTTP) has evolved significantly over the past several years. However, despite recent advances, there are...
The management of immune thrombotic thrombocytopenic purpura (iTTP) has evolved significantly over the past several years. However, despite recent advances, there are limited tools available for patients with comorbidities that preclude either the utilization of available treatment modalities or evidence-based laboratory target levels. Literature to guide the management of such patients is sparse at best, and many complications associated with pre-existing comorbidities in the context of iTTP have not been reported. Here we describe the case of a patient with severe thrombocytopenia at baseline due to liver cirrhosis who developed iTTP. The challenges of the case in terms of pursuing disease-directed treatment, defining laboratory parameters to guide treatment, and mitigating the risks of bleeding and disease exacerbation are discussed. We offer our perspective in treating iTTP in the setting of severe baseline thrombocytopenia and high bleeding risk.
PubMed: 38846184
DOI: 10.7759/cureus.59839