Unique Manifestation Research Articles

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Suren Ayvazyan's fiction is one of the remarkable pages of Armenian Modern literature of the latest period and stands out for its subtle psychological penetrations, uncomplicated style of narration, unique manifestations of language thinking. The heroes of his stories, novelettes and novels are presented in different dimensions of space and time: the chaos of the 18th century, the times of the feverish search for "The Armenian Road", pre-Soviet Armenia, economic recovery, and the Great Patriotic War. In those works, although the actions take place in different spatial dimensions, their basin is Zangezur, which apparently completes the miniature of Armenia. For Ayvazyan, the people of his birthplace, its unique colors and aromas were a constant source of enthusiasm and heartfelt inspiration. In the nature of Khndzoresk, the writer searched for the heroes of his stories, novelettes and novels - natural people who were and always remained pure before society and especially before their conscience. The heroes of Ayvazyan's stories and novels have their own prototypes, which the author knew very well and knew in his childhood. They are wise people with years of life experience, people with a thousand and one worries and pains, prominent personalities that generalize the image of time. There is no imaginary story in Ayvazyan's short stories and novels, and the most characteristic thing for a writer is that he is able to find what is distinctive and typical for these people and to make it fictional with great skills. Finally, there is no doubt that it is the right time for S. Ayvazyan's rich literary legacy should be thoroughly and systematically examined in literary studies.

Exploring Malaysian parents' and teachers' cultural conceptualization of adolescent social and emotional competencies: A qualitative formative study.

Global implementation of social and emotional learning (SEL) has been suggested to incorporate a systematic cultural adaptation process which relies on ground-up empirical data of a target cultural group in tailoring a culturally sensitive SEL intervention. Preliminary formative studies among local parents and educators were done to explore the conceptualization of social and emotional competencies (SECs) in various cultural settings, such as the continent of Africa and among the indigenous and refugee groups. Unfortunately, little scholarship has been devoted to studying the SEL adaptation process in Southeast Asian regions. This formative study aimed to explore Malaysian parents' and teachers' cultural conceptualization of adolescent SECs. This qualitative study interviewed 12 Malaysian parents and 10 Malaysian teachers comprising of Malay (82%), Chinese (9%) and Indian (9%) races in an online focus group discussion. Sampling is purposive to parents of adolescents and teachers at secondary school only. Data were analyzed thematically to determine the culturally sensitive SEL constructs for Malaysian adolescents. All themes and sub-themes of SEC regarded as crucial for Malaysian adolescents are aligned with CASEL's five domains of competencies. Our findings extended the conceptualization of subskills under CASEL's relationship skills and responsible decision-making domains, which reflect Asian cultural values. The main themes of social competency: (a) preserving interpersonal relationships, (b) utilizing intrapersonal skills, and (c) communicating effectively, are shared with the established CASEL constructs. However, the underlying subthemes denote the unique cultural manifestation of social competency in Malaysia. Two of the emotional competency themes represent the established CASEL constructs: (a) practicing self-regulation, (b) demonstrating help-seeking behavior, and the other two themes signify Asian values: (c) upholding altruism, and (d) maintaining cultural display rules. This formative study revealed the habitual use of experiential and expressive suppressions as adaptive emotion regulation strategies in Malaysian collectivist culture and offered a potential alternative emotion regulation pathway suitable for Malaysian adolescents. It also informed the feasibility of implementing SEL modules developed based on the CASEL framework in Malaysia and suggested two key lessons to enhance the cultural sensitivity of SEL in Malaysia: effective, respectful communication and expressive writing.

A horse or a zebra? Unusual manifestations of common cutaneous infections in primary immunodeficiency pediatric patients.

Patients with primary immunodeficiency disorders (PIDs) often suffer from recurrent infections because of their inappropriate immune response to both common and less common pathogens. These patients may present with unique and severe cutaneous infectious manifestations that are not common in healthy individuals and may be more challenging to diagnose and treat. To describe a cohort of patients with PIDs with atypical presentations of skin infections, who posed a diagnostic and/or therapeutic challenge. This is a retrospective study of pediatric patients with PID with atypical presentations of infections, who were treated at the immunodeficiency specialty clinic and the pediatric dermatology clinic at the Sheba Medical Center between September 2012 and August 2022. Epidemiologic data, PID diagnosis, infectious etiology, presentation, course, and treatment were recorded. Eight children with a diagnosis of PID were included, five of whom were boys. The average age at PID diagnosis was 1.7 (±SD 3.2) years. The average age of cutaneous infection was 6.9 (±SD 5.9) years. Three patients were born to consanguineous parents. The PIDs included the following: common variable immunodeficiency, severe combined immunodeficiency, DOCK8 deficiency, ataxia telangiectasia, CARD11 deficiency, MALT1 deficiency, chronic granulomatous disease, and a combined cellular and humoral immunodeficiency syndrome of unknown etiology. The infections included the following: ulcerative-hemorrhagic varicella-zoster virus (two cases) atypical fungal and bacterial infections, resistant Norwegian scabies, giant perianal verrucae (two cases), and diffuse molluscum contagiosum. In this case series, we present unusual manifestations of infectious skin diseases in pediatric patients with PID. In some of the cases, recognition of the infectious process prompted life-saving treatment. Increasing familiarity with these dermatological manifestations, as well as keeping a high index of suspicion, is important to enabling early diagnosis of cutaneous infections in PIDs and initiation of prompt suitable treatment.

Qualitative Exploration Toward the Development of a Parent-Rated Scale for Insomnia in Children with Autism Spectrum Disorder.

Toward the development of a new parent-rating for insomnia, this multi-site qualitative study explored sleep problems and related impacts in children with autism spectrum disorder (ASD) and their families. To ensure content validity of the measure, we conducted six focus groups with caregivers (N = 25) of 24 children (age 3 to 18 years) with ASD. Based on parent report, all children had a history of mild or greater insomnia. The focus group transcripts were systematically coded to identify major themes. Verbatim comments from caretakers were used to generate 134 candidate items. Further review by the research team and an expert panel followed by individual cognitive interviews with 12 parents reduced the item bank to 40. The thematic analysis of focus group transcripts identified 7 categories: (1) Trouble falling asleep; (2) trouble staying asleep; (3) early morning waking; (4) bedtime routines; (5) parental strategies for bedtime management; (6) impact of sleep problems on the child; and (7) impact of sleep problems on the family. The Flesch Kincaid Grade Level of the 40-item version was 7.2 (seventh grade reading level). Insomnia in children with ASD shares features in common with insomnia in the general pediatric population. However, perhaps owing to autistic features such as insistence on sameness, sensory sensitivities, communication impairments, insomnia in children with ASD appears to have unique behavioral manifestations. Content validity and item clarity of the 40-item bank were supported by expert panel review and cognitive interviews with caregivers of children with ASD.

A Mutation in CACNA1S Is Associated with Multiple Supernumerary Cusps and Root Maldevelopment

Enamel knots and Hertwig epithelial root sheath (HERS) regulate the growth and folding of the dental epithelium, which subsequently determines the final form of tooth crown and roots. We would like to investigate the genetic etiology of seven patients affected with unique clinical manifestations, including multiple supernumerary cusps, single prominent premolars, and single-rooted molars. Oral and radiographic examination and whole-exome or Sanger sequencing were performed in seven patients. Immunohistochemical study during early tooth development in mice was performed. A heterozygous variant (c. 865A>G; p.Ile289Val) in CACNA1S was identified in all the patients, but not in an unaffected family member and control. Immunohistochemical study showed high expression of Cacna1s in the secondary enamel knot. This CACNA1S variant seemed to cause impaired dental epithelial folding; too much folding in the molars and less folding in the premolars; and delayed folding (invagination) of HERS, which resulted in single-rooted molars or taurodontism. Our observation suggests that the mutation in CACNA1S might disrupt calcium influx, resulting in impaired dental epithelium folding, and subsequent abnormal crown and root morphology.

Unique Clinical Manifestation of Infective Endocarditis in Children: A Case Series

BACKGROUND: Infective endocarditis (IE) was a significant cause of morbidity and mortality, particularly in children with congenital heart disease (CHD). Infective endocarditis could occur in all ages with higher in children below 1-year-old, including neonates. Various clinical manifestations of IE in children make it difficult to make a prompt diagnosis and appropriate management. Finding in echocardiography could help clinicians determine the diagnosis of IE. Systemic embolization could cause many complications that may present as chief complaint underlying patient hospitalization. CASE PRESENTATION: We present case series of diverse manifestation of IE in children in Bandung, West Java, Indonesia. Two cases had a history of structural heart disease, while one case with no history of any structural heart disease before. CONCLUSION: Wide range of symptoms that could occur in children with IE, made it challenging to make a proper diagnosis.

Adjusting in a pandemic: Experiences of incoming international students

IntroductionOver 4 million students travel outside their home countries to pursue tertiary education in the world, with over 600,000 students traveling to Canada alone. Adjustment to new cultures has often been shown to be stressful. The COVID-19 pandemic has been a significant global event that has affected all aspects of life in different ways. Although there is research showing the negative impact of the COVID-19 pandemic on international students globally, the study of the experiences of incoming cohorts of international students, particularly during the process of planning, traveling, and arriving at the host country, is still evolving.MethodsGiven that international students are sometimes at higher risk for mental health concerns, this qualitative study sought to explore the experiences of six incoming international graduate students, ages 18 to 32, through a semi-structured interview, as they moved from their home country to Canada. It explored their cultural adjustment in the context of the COVID-19 pandemic using a thematic analysis, through a descriptive phenomenological paradigm.ResultsSix themes emerged: choosing graduate programs; influence of pandemic on admission acceptance, moving to Canada, university experiences, adjustment; and adjustment as a student. Overall, international students appear to experience a “double dose” of stressors - the typical stressors of student hood, COVID-19 related challenges, as well as their unique manifestations in the context of being an international student.DiscussionLimitations and implications of the study are discussed.

Peripheral lymphocyte count defines the clinical phenotypes and prognosis in patients with anti-MDA5-positive dermatomyositis.

To explore the role of peripheral lymphocyte count in phenotyping and prognosis prediction in dermatomyositis (DM) patients with anti-MDA5 antibodies. In total, 1669 patients with idiopathic inflammatory myopathy (IIM) were retrospectively enrolled. Clinical characteristics and prognosis of patients with anti-MDA5+ DM were analyzed in association with peripheral lymphocyte counts and clusters determined by unsupervised machine learning. The peripheral lymphocyte count was significantly lower in the anti-MDA5+ DM group (N=421) than in the other IIM serotype groups. The anti-MDA5+ DM patients were divided into three groups; the severe lymphopenia group had skin ulcers and rapidly progressive interstitial lung disease (RP-ILD); patients with a normal lymphocyte count had a younger age of onset, more frequent arthritis, and normal serum ferritin levels, whereas mild lymphopenia group showed a moderate increase of serum ferritin and intermediate incidence of RP-ILD. Survival analysis revealed that the 3- and 6-month mortality rates were significantly higher in the severe lymphopenia group (29.0% and 42.1%, respectively) than in the mild lymphopenia group and normal lymphocyte count group (p value <0.001). Consistently, unsupervised machine learning identified three similar groups; the arthritis cluster shows the highest lymphocyte counts and best prognosis; the RP-ILD cluster presents the lowest peripheral lymphocyte, high incidence of RP-ILD, and poor prognosis; the typical DM rash cluster had a moderate peripheral lymphocyte count and an intermediate prognosis. Lymphopenia is a unique manifestation of anti-MDA5+ DM. Peripheral lymphocyte count can define clinical phenotypes and predict prognosis in anti-MDA5+ DM.

Acute Tonsillitis Due To Monkeypox

BackgroundThe emerging 2022 human mpox virus outbreak has presented with unique disease manifestations challenging prior case definitions. Case ReportWe present a case of a 42-year-old transgender woman with human immunodeficiency virus controlled on antiretroviral therapy, presenting with sore throat, who, after three emergency department visits, was found to have acute tonsillitis complicated by airway obstruction secondary to mpox. Why Should an Emergency Physician Be Aware of This?Sore throat is a common presentation to the emergency department. mpox should be placed on the list of differential diagnoses when evaluating patients who present with pharyngitis to avoid complications or a missed diagnosis.

SARS-CoV-2 infection induces persistent adipose tissue damage in aged golden Syrian hamsters

Coronavirus disease 2019 (COVID-19, caused by severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2)) is primarily a respiratory illness. However, various extrapulmonary manifestations have been reported in patients with severe forms of COVID-19. Notably, SARS-CoV-2 was shown to directly trigger white adipose tissue (WAT) dysfunction, which in turn drives insulin resistance, dyslipidemia, and other adverse outcomes in patients with COVID-19. Although advanced age is the greatest risk factor for COVID-19 severity, published data on the impact of SARS-CoV-2 infection on WAT in aged individuals are scarce. Here, we characterized the response of subcutaneous and visceral WAT depots to SARS-CoV-2 infection in young adult and aged golden hamsters. In both age groups, infection was associated with a decrease in adipocyte size in the two WAT depots; this effect was partly due to changes in tissue’s lipid metabolism and persisted for longer in aged hamsters than in young-adult hamsters. In contrast, only the subcutaneous WAT depot contained crown-like structures (CLSs) in which dead adipocytes were surrounded by SARS-CoV-2-infected macrophages, some of them forming syncytial multinucleated cells. Importantly, older age predisposed to a unique manifestation of viral disease in the subcutaneous WAT depot during SARS-CoV-2 infection; the persistence of very large CLSs was indicative of an age-associated defect in the clearance of dead adipocytes by macrophages. Moreover, we uncovered age-related differences in plasma lipid profiles during SARS-CoV-2 infection. These data suggest that the WAT’s abnormal response to SARS-CoV-2 infection may contribute to the greater severity of COVID-19 observed in elderly patients.

In Vitro and In Vivo Investigation of a Dual-Targeted Nanoemulsion Gel for the Amelioration of Psoriasis

Psoriasis, due to its unique pathological manifestations and the limited success of existing therapeutic modalities, demands dedicated domain research. Our group has developed nanotherapeutics consisting of bioactives such as Thymoquinone (TQ) and Fulvic acid (FA), which have been successfully incorporated into a Nanoemulsion gel (NEG), taking kalonji oil as oil phase. The composition is aimed at ameliorating psoriasis with better therapeutic outcomes. TQ is a natural bio-active that has been linked to anti-psoriatic actions. FA has anti-inflammatory actions due to its free radical and oxidant-scavenging activity. Our previous publication reports the formulation development of the NEG, where we overcame the pharmaco-technical limitations of combining the above two natural bioactives. In vitro evaluation of the optimized NEG was carried out, which showed an enhanced dissolution rate and skin permeation of TQ. This work furthers the pharmaceutical progression of dual-targeted synergistic NEG to treat psoriasis. A suitable animal model, BALB/c mice, has been used to conduct the in vivo studies, which revealed the effective anti-psoriatic action of TQ. Molecular docking studies corroborated the results and revealed a good binding affinity for both the targets of TNF-α (Tumor necrosis factor) and IL-6 (Interlukin-6). Tissue uptake by Confocal laser scanning microscopy (CLSM), a skin interaction study of the gel formulation, and an antioxidant free radical scavenging assay (1-1 Diphenyl-2-picrylhydrazyl DPPH) were also carried out. It was concluded that the NEG may be effective in treating psoriasis with minimal side effects.

Trilogy of Covid-19 pandemic inactivity, Vitamin D deficiency and Genu Valgus knee deformation: Indolent manifestation of concern in preadolescents

The Covid-19 pandemic has affected the health in myriad ways. The direct affection may lead to respiratory infection. An indirect effect of Covid-19 has manifestations on the physical, mental and behavioural attributes in majority of the age groups. The forced restrictions, limited activities, and changed lifestyle have aggravated the deleterious effects of the sedentary lifestyles. The management of the physical activity for all age groups especially pre-adolescents took a relative back-seat during the Covid-19 restrictions with no immediate suggestions for an active treatment protocol strategy. The clinicians in general, emphasised on the conservative measures to manage the increased incidence of vitamin deficiency and osteopenia majorly with consultations based on telecommunication without clinical evaluation. The subsequent delayed assessment showed a profound negative impact amongst the pre-adolescents with significant progression of knee deformation and increased outpatient clinic presentation of genu valgus for management in later phase of pandemic. This has posed a unique Covid-19 post-pandemic manifestation of concern.The trilogy of Covid-19 restrictions induced poor physical activity, vitamin-D deficiency, and deformation of knees to valgus angulation have crippling effect in the pre-adolescent age-group. The delay in timely identification and medical management for the pre-adolescents has aggravated the joint deformation compromising the functional outcomes. The orthopaedic surgeons are now challenged and burdened to manage pre-adolescents knee deformity for corrective medical and surgical measures. On literature review, the guidelines are sparse for the paediatric orthopaedic management. The silent worsening with increased morbidity presents a matter of substantial concerns.An individualized management strategy for pre-adolescents is strongly recommended to manage this “silent” morbidity.

COVID-19 presenting as a non-arteritic anterior ischemic optic neuropathy.

We present a case of a 61-year-old woman with an atypical non-arteritic anterior ischemic optic neuropathy (NA-AION) as a unique manifestation of COVID-19. Furthermore, the patient worsened after Pfizer-BioNTech COVID-19 vaccine administration. Our findings suggest that NA-AION could result from microangiopathic/thrombotic events that may occur during SARS-CoV-2 infection and/or vaccination against COVID-19. This report sheds light on possible ophthalmologic complications of COVID-19.

Nomogram for predicting the distal adding-on phenomenon in severe and rigid scoliosis.

The distal adding-on phenomenon has attracted extensive discussion in the field of spine surgery due to the continual occurrence after scoliosis correction. Previous work has mainly focused on adolescent idiopathic scoliosis (AIS), and a relatively high number of theories for the mechanism of the distal adding-on phenomenon has been proposed for these kinds of patients. Severe and rigid scoliosis, as a special disease form, has a unique etiology, clinical manifestations and internal mechanisms distinct from those of AIS. Given the uniqueness of this disease, the mechanism and causes of the distal adding-on phenomenon have been infrequently studied in depth. To define clinical and radiological factors associated with distal adding-on in patients with severe and rigid scoliosis. Radiographic parameters and demographic data of patients with severe and rigid scoliosis were evaluated preoperatively, after posterior instrumentation and fusion surgery, and at the final follow-up via radiographs. According to the appearance of distal adding-on at the final follow-up, the patients were grouped into the Adding-on and the Non-adding-on groups. Various radiological parameters were analyzed in stepwise multivariate logistic regression to identify the variables associated with distal adding-on, which were then incorporated into a nomogram. The predictive performance and calibration of the nomograms for distal adding-on were assessed using C statistics and calibration plots. 93 patients (21 in the Adding-on and 72 in the Non-adding-on group) were included. The incidence of distal adding-on was 22.6%. The variables associated with distal adding-on were the anterior release, posterior internal distraction, and later posterior spinal fusion (IP) procedure, the posterior vertebral column resection and posterior spinal fusion (PVCR) procedure, postoperative apical vertebral translation (Post-AVT) and preoperative slope of the line linking the pedicles on the concave side of the upper- and lower-end vertebrae (Tan α). Combining these factors, the nomogram achieved a concordance index of 0.92 in predicting distal adding-on and had well-fitted calibration curves. For patient with a negative Tanα in severe and rigid scoliosis, the risk of distal adding-on tended to increase, and it is recommended to give priority to IP or PVCR. In the final correction, a smaller Post-AVT should not be pursued excessively.

From the Furjān to the Stadiums: Examining Qatari Football Fandom and Migrant Experiences before and during the World Cup

This paper examines football fandom and migrant experiences in Qatar, emphasizing the sociocultural dynamics surrounding the 2022 World Cup. It critically explores the unique manifestations of football culture within Qatari neighborhoods and majālis, challenging Western perceptions of Qatari fan culture and the nation’s ability to host the World Cup. Moreover, it delves into the diverse narratives of migrant communities, revealing complex layers of loyalty, patriotism, and anxiety toward the event and its aftermath. By integrating two kinds of local voices and conducting in-depth fieldwork in Qatar, the study highlights the relationship of both Qatari citizens and immigrant non-citizens to the World Cup, advocating for a nuanced understanding of notions of belonging and football fandom beyond prevalent stereotypes and simplistic portrayals.

Myositis-specific antibodies in dermatomyositis: A single-center experience of 33 cases in Taiwan

Dermatomyositis (DM) is a systemic autoimmune disease characterized by unique cutaneous manifestations and inflammatory myopathies. With the discovery of myositis-specific antibodies (MSAs), patients with DM, especially those with a higher risk of life-threatening complications, can be classified according to the MSA type. This retrospective study aimed to investigate the clinical significance of MSAs in patients with DM in Taiwan. A total of 33 patients with DM who underwent the MSA test, including 26 with classic DM and 7 with amyopathic DM, were included. There were 13 men and 20 women, with a mean age at diagnosis of 49.6 years. MSA was detected in 26 (78.8%) of 33 patients with DM. The most frequently detected MSA was anti-melanoma differentiation-associated protein 5 (MDA5) (10/33, 30.3%) followed by anti-transcription intermediary factor-1γ (TIF-1γ) (8/33, 24.2%). Dysphagia was present in 6 (18.2%) of the 33 patients and more frequently developed in patients with anti-TIF-1γ (+) (5/8, 62.5%) than those with anti-TIF-1γ (−) (1/25, 4.0%). Interstitial lung disease was noted in 15 patients (45.5%) and developed more frequently in patients with anti-MDA5 (+) (7/10, 70.0%) than those with anti-MDA5 (−) (8/23, 34.8%). Malignancies were detected in 4 (12.1%) patients, with one each of anti-Mi-2 (+), anti-TIF-1γ (+), anti-ARS (+), and MSA (−). Mortality occurred in 6 (18.2%) patients, of whom 4 were anti-MDA5 (+). Anti-MDA5 and anti-TIF-1γ were the two most commonly detected MSAs. The presence of specific MSAs is associated with a certain phenotype, and integrating MSAs while evaluating DM aids in accurate patient management.

Serum metabolomics identified metabolite biomarkers and distinguished maturity-onset diabetes of the young from type 1 diabetes in the Chinese population

BackgroundMaturity-onset diabetes of the young (MODY) patients have unique clinical manifestations and need individualized treatments. We identified novel serum metabolic biomarkers to distinguish MODY and explore the possible mechanism of the clinical manifestation and complications of MODY. MethodsFasting serum samples were collected from MODY3 (n = 17), MODY2 (n = 33), type 1 diabetes (T1DM) (n = 34) and healthy individuals (n = 30), and were analyzed using the ultra-performance liquid chromatography-mass spectrometry (UPLC-MS) metabolomic platform. Results4 metabolites were found significantly fluctuated between groups, including glycerophosphocholine, LysoPC(18:2(9Z,12Z)), sphinganine and l-Phenylalanine. Glycerophosphocholine was selected as a diagnostic biomarker. The the area under the ROC curve (AUC) for distinguishing MODYs from healthy controls and differentiating MODY3 from T1DM reached 1.0. The combination of metabolites also gained good diagnostic value. The AUC of the combination of LysoPC(18:2(9Z,12Z)), sphinganine and l-Phenylalanine for discriminating MODY3 from T1DM was 0.983. Besides, the combination of clinical indices and metabolites helped to better differentiate the 2 MODY subtypes. ConclusionsWe identified the metabolic profiles of MODY2 and MODY3 and found promising biomarkers for distinguishing MODY from T1DM, which provides evidence for the pathogenesis and characteristic clinical manifestations of patients with MODY2 and MODY3.

Fundamental Analysis of Chick Corea’s Improvisation in Spain (1972)

"Modern jazz can be considered an equal part of modern music, owing to the numerous experiments, at times considered strange or not really agreed by the audience. When talking about modern musical life and the possibilities for making music in a proper manner, no doubt that the value and genius of composers like Wolfgang Amadeus Mozart or Ludwig van Beethoven must be recognized. However, one must also realize that modern life, with its modern, contemporary music is also needed. The great jazz saxophonist, Charlie Parker considered improvisation the middle of the earth, the place where, if only for a few brief moments, one can be the best and the greatest composer in the world. Furthermore, the idea of a song (theme) is the only reason for musicians to come and elaborate together, with variational spontaneity, a unique and maybe unrepeatable musical manifestation. The works of Chick Corea reflect this point of view, as the analysis of the work Spain (1972), discussed in the article bellow, will demonstrate. The work represents the fusion between Spanish music and the compositional methods of modern jazz music, reflecting Corea’s unique style. Improvisation lies at the basis of this composition, offering the musician a multitude of possibilities for expressing his ideas regarding freedom and human nature. Keywords: jazz, piano improvisation, spontaneity, creativity, harmonical knowledge, contemporary "

A unique presentation of NLRP3-associated autoinflammatory disease: case report

BackgroundNLRP3-associated autoinflammatory diseases (NLRP3-AID) are rare genetic autoinflammatory diseases characterized by chronic inflammation and an urticaria-like rash. We report an unusual presentation of severe NLRP3-AID resulting in a significant diagnostic delay of more than three decades.Case presentationThe patient presented with early-onset serositis as well as prominent peripheral eosinophilia with organ infiltration, in the absence of the classic urticaria-like rash. DNA analysis by next generation sequencing revealed a sporadic class 4 mutation c.1991T > C (p.Met662Thr) in the NLRP3 gene, confirming a diagnosis of NLRP3-AID at 36 years old. Although treatment with anti-interleukin 1 agent led to clinical remission, irreversible sequelae, namely intellectual disability and deafness, remained.ConclusionThis case highlights unique manifestations of NLRP3-AID, namely the absence of urticaria-like rash, eosinophilic organ infiltration, and pseudoseptic serositis. In order to avoid diagnostic delay and its dire consequences, NLRP3-AID should be suspected in patients displaying autoinflammatory features combined with serum and tissue eosinophilia and/or marked serositis, regardless of skin involvement.

Clinical Improvement Following Delayed Initiation of Immunotherapy in a Case of LGI1 Antibody Encephalitis Presenting with Faciobrachial Dystonic Seizures Following COVID-19 Vaccination

Objective To demonstrate a case of suspected post-vaccine autoimmune encephalitis associated with leucine-rich glioma-inactivated protein (LGI1) antibodies with significant clinical improvement after initiation of immunotherapy nearly a year after symptom onset. Background Although the autoimmune encephalitides have overlap in presentation, some have unique manifestations (such as orofacial dyskinesias seen with NMDA encephalitis). These unique associations can serve as a clinical marker of response to treatment and even allow for earlier initiation of immunotherapy while awaiting results from antibody testing. LGI1 encephalitis characteristically presents with faciobrachial dystonic seizures (FBDS) that are refractory to anti-seizure medications (ASMs) but responsive to immunotherapy. Design/Methods Case report Results A previously healthy and highly independent 89-year-old woman developed what she described as abnormal posturing and spasms of the right shoulder two to three weeks after receiving the J&amp;J COVID-19 vaccine. The abnormal movements progressed to involve the right side of her face and were refractory to multiple ASMs. EEG captured multiple events without epileptiform correlate. Several months later she developed paranoia, delusions, and hallucinations. Autoimmune encephalopathy panel returned positive for the LGI1-antibody around nine months after the onset of FBDS. Upon our initial exam, she had a fluctuating level of arousal, impaired recall of recent events, and was tangential in conversation. There were frequent, brief, repetitive, dystonic movements of the right side of the face consistent with FBDS. Admission was arranged for immunotherapy (intravenous methylprednisolone and intravenous immunoglobulin). Upon follow-up four weeks later, there was significant improvement in arousal and concentration with resolution of FBDS and delusions. Conclusions This case highlights a classic case of LGI1 encephalitis after vaccination presenting with FBDS and progressive cognitive changes. Despite immunotherapy being delayed, there was marked clinical improvement. It is important to recognize this entity and that it typically has a favorable outcome.