Variety Of Manifestations Research Articles

Epidemiological features of the spread of new coronavirus infection (COVID-19) in the Tomsk region in the first year of the pandemic

Introduction. At the end of December 2019 the World Health Organization (WHO) announced cases of pneumonia of unknown etiology. Soon, the disease received the official name “New coronavirus infection” (COVID-19), and the etiological agent was named the SARS-CoV-2 virus, characterized by rapid spread, high variability and diverse epidemic manifestations in various territories.Aim: To identify the epidemiological features of the spread of COVID-19 in the Tomsk region in the first year of the pandemic.Material and Methods. A descriptive epidemiological study was conducted in the Tomsk region in 2020. Information on COVID-19 cases was analyzed according to the federal register of persons with COVID-19, federal statistical observation form N 12 “Information on the number of diseases registered in patients living in the service area of a medical organization”. The assessment of the obtained data was carried out using the method of retrospective epidemiological analysis with subsequent statistical processing.Results. In connection with the threat of importation and spread of COVID-19 on the territory of Tomsk region, the order of the Administration of Tomsk region on January 31, 2020 approved the Plan of organizational sanitary and anti-epidemic (preventive) measures to prevent the importation and spread of a new coronavirus infection caused by 2019-nCoV. The first year of the COVID-19 pandemic was characterized by a wave-like course and significant fluctuations in morbidity during its different periods. Clinical manifestations of COVID-19 were registered in 91.2% of the diseased. The composition of patients was characterized by the prevalence of women (56.8%) compared to men (43.2%). The population mortality rate due to COVID-19 was 0.9%. In general, 74.3% of patients with COVID-19 received medical care in outpatient conditions. The capacity of the bed fund by the end of the first year of the pandemic in Tomsk region reached 2810 beds. The maximum coverage of population testing for SARS-CoV-2 identification was observed in the 46–47 calendar week, which corresponded to the maximum rise in COVID-19 morbidity among the total population.Conclusion. In the first year of the COVID-19 pandemic in Tomsk region, the following epidemiologic features can be distinguished: absence of seasonality; prevalence of patients with clinical manifestations of COVID-19 in the structure of the diseased; prevalence of patients requiring medical care in outpatient settings; involvement of patients aged 50–64 years in the epidemic process to a greater extent; prevalence of men aged 65 years and older among those who died due to COVID-19.

Nonlactational Mastitis in Western Brazilian Amazon Mastitis Cases.

Chronic mastitis varies in etiology between its lactational and nonlactational forms and can be challenging to diagnose. This study aimed to assess the epidemiological profile and diverse etiologies of nonlactational mastitis in Amazonas, Brazil, focusing on distinguishing between tuberculous mastitis (TM) and idiopathic granulomatous mastitis (IGM). This is a retrospective and prospective study that was carried out at the mastitis outpatient clinic of Fundação de Medicina Tropical Doutor Heitor Vieira Dourado from 2013 to 2021 and evaluated epidemiological data, imaging, and laboratory tests. Descriptive statistics were performed. In this retrospective and prospective analysis, 124 medical records were initially considered, with 12 excluded for various reasons. The remaining 112 cases underwent thorough evaluation through epidemiological data, imaging, and laboratory tests, by employing descriptive statistics for analysis. The pathology revealed a predominant prevalence of IGM (64.3%), followed by various forms of mastitis, including confirmed TM (4.5%), presumable TM (8.9%), and others. Our findings indicate that IGM, though a rare cause of breast masses and abscesses, accounts for a significant portion of mastitis cases. Histopathological studies were essential for diagnosis, with ultrasound being the primary imaging tool. This study is one of the largest Brazilian series on nonlactational mastitis, highlighting the condition's complexity and diverse manifestations in the Amazon region.

Novel Presentation of Type 1 Wolfram Syndrome as Intracranial Hemorrhage and Longitudinally Extensive Transverse Myelitis: Neuroimaging and Angiographic Findings.

Wolfram syndrome (WS), a rare genetic neurodegenerative condition, is primarily characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing loss, along with diverse systemic manifestations. Late-stage cases exhibit widespread brain atrophy. While bleeding tendencies are not commonly observed in Type 2 WS (WS2), there is a distinctive bleeding tendency that is exclusive to WS2, with no documented occurrences in Type 1 WS (WS1). Extensive documentation exists regarding various neurologic manifestations of this syndrome; however, as of now, there is no reported mention of intracranial hemorrhage, a rarity within this condition.

Возможности лингвистического корпуса Corpus del Español М. Дэвиса в рамках преподавания испанского языка

The article deals with the didactic potential of the non-academic corpus of the Spanish language Corpus del Español, created by M. Davis. The purpose is to reveal the scope of options of this corpus for students and teachers in classes of Spanish as a foreign language. Among the four Corpus del Español subcorpora (Género/Histórico; Web/Dialectos; NOW 2012–2019; Google Books n-grams), particular attention is paid to the subcorpus of Internet resources of the national varieties of Spanish: the article points out its advantages over other subcorpora, taking into account the latest functions, as well as presents information search options and describes the procedure in detail. Specific examples demonstrate the principles of using the corpus in intervariant research (studying the frequency, semantic and pragmatic features of separate words as well as their lexical and grammatical collocations in the national varieties of the Spanish language). In addition, the paper suggests assignment ideas for students of different levels (from simple introductory and search exercises to rule formulation), taking into account both advantages and disadvantages of using the corpus in the classroom. A conclusion is drawn about the importance of using this tool for linguodidactic purposes due to the wide scope of its functions and easy access to them, which allows one to stimulate students’ inductive activity, increase their motivation and develop a creative approach to learning activities. The article outlines prospects for further work in the field of corpus research related to the study of Spanish as a multinational language in all its diverse manifestations.

Central sleep apnea as an initial presentation of small cell lung carcinoma with anti-Hu antibody-related paraneoplastic neurologic syndrome.

Anti-Hu antibody-related paraneoplastic neurologic syndrome (PNS), a rare disease primarily associated with small cell lung carcinoma, is characterized by diverse neurologic manifestations. Central sleep apnea, although rare, is specific to anti-Hu antibody-related PNS. Herein, we present a case of out-of-hospital cardiac arrest attributed to hypercapnic central sleep apnea and detail the subsequent workup that revealed anti-Hu brainstem encephalitis. A malignancy survey revealed mediastinal small cell carcinoma. The patient was treated by tumour excision, chemotherapy, plasma exchange, and high-dose glucocorticoids. Though the neurologic damage caused by anti-Hu antibody was documented to be relatively irreversible in literatures, such hypercapnic central sleep apnea resolved in our case about 1 month later.

Cutaneous sarcoidosis: clinical and pathologic features, molecular pathogenesis, and treatment.

Sarcoidosis is a multisystem inflammatory disorder that most commonly affects the lungs, lymphatic system, eyes, and skin. Cutaneous involvement is present in approximately 20-30% of patients. Prednisone and corticotropin repositories are the only FDA-approved therapies for sarcoidosis. We review the varied cutaneous manifestations of sarcoidosis and the recommended evaluation for this disease. We also discuss histopathologic findings and outline disease pathogenesis, incorporating newer molecular data. Treatment approaches for cutaneous sarcoidosis and their associated levels of evidence are also delineated.

The Feasibility of Personalized Endpoints in Assessing Treatment Outcomes in Rare Disease: A Pilot Study of Goal Attainment Scaling in SCN2A-Associated Developmental Epileptic Encephalopathy.

For individuals living with rare neurodevelopmental disorders, especially those who are at the most severe end of the spectrum, standardized outcome measures may lack the sensitivity to capture small but meaningful changes. Personalized endpoints such as Goal Attainment Scaling (GAS) allow the assessment of treatment response across variable baseline states and disease manifestations and thus provide a highly sensitive measure of efficacy. The current study tested the feasibility of using GAS in rare SCN2A-associated developmental and epileptic encephalopathy (SCN2A-DEE). The caregivers of 10 individuals with SCN2A-DEE (Mage=8.2 years, SD=5.62, range 3.4-20.4; Nmale=8) took part in in-person goal-setting and remote follow-up interviews facilitated by four clinical researchers. Implementation was standardized using clinician training, patient orientation, and an electronic data capture platform, GoalNav®; surveys were used to evaluate implementation. All 10 caregivers completed the goal-setting interviews, were able to set, scale three goals, and assess attainment levels at follow-up interviews. The mean (SD) times to conduct the goal-setting and follow-up interviews were 59.4 (14.5) and 18.4 (10.5) minutes, respectively. Participants set a variety of goals relating to communication (n=10), feeding (n=4), gross and fine motor abilities (n=6), behavior (n=5), gastrointestinal function (n=3), sleep (n=1), and seizures (n=1). Data completeness, interview time, and the presence of high-quality goals (29/30) indicated the feasibility of using GAS in this population, while survey responses indicated its acceptability. This pilot project provided evidence supporting the feasibility of GAS as a method for assessing treatment outcomes for patients with rare neurodevelopmental disorders.

PD-1 blockade treatment in melanoma: Mechanism of response and tumor-intrinsic resistance.

Malignant melanoma is characterized by high immunogenicity, genetic heterogeneity, and diverse pathological manifestations, affecting both skin and mucosa over the body. Pembrolizumab and nivolumab, both anti-PD-1 monoclonal antibodies, were approved by the US FDA for unresectable or metastatic melanoma in 2011 and 2014, respectively, with enduring and transformative outcomes. Despite marked clinical achievements, only a subset of patients manifested a complete response. Approximately 55% of melanoma patients exhibited primary resistance to PD-1 antibodies, with nearly 25% developing secondary resistance within 2 years of treatment. Thus, there is a critical need to comprehensively elucidate the mechanisms underlying the efficacy and resistance to PD-1 blockade. This review discusses the fundamental mechanisms of PD-1 blockade, encompassing insights from T cells and B cells, and presents resistance to anti-PD-1 with a particular focus on tumoral-intrinsic mechanisms in melanoma.

Myocardial Ischemic Syndrome: A Necessary Nomenclature Update of Coronary Artery Disease

The switch from the name coronary artery disease (CAD) to myocardial ischemic syndrome (MIS) signifies a more thorough comprehension of the mechanism and clinical presentations of heart disease. CAD largely addresses obstructive coronary lesions, whereas MIS includes a wider range of disorders leading to insufficient blood supply to the heart muscle, including microvascular dysfunction and coronary artery spasm. The revised terminology highlights the varied causes and manifestations of ischemic heart disease beyond conventional stenotic lesions, facilitating more precise diagnosis and tailored treatment approaches based on specific patient attributes. By acknowledging the dynamic characteristics of myocardial ischemia, healthcare providers can more effectively manage the intricate interactions of risk variables and customize interventions to enhance patient outcomes.

Rapid Aneurysmal Degeneration and Repair of Thoracic Aortic Aneurysm in a Patient with Concomitant Vascular Ehlers-Danlos and Loeys-Dietz Syndromes.

Vascular Ehlers-Danlos (vEDS) and Loeys-Dietz syndrome 3 (LDS3) are connective tissue disorders with diverse systemic manifestations. Most notable in these disorders, though, are their aggressive aortopathies, often presenting early in life with aneurysmal disease or dissection. Herein we present the case of a 33-year-old patient, previously lost to follow-up, who underwent complex reoperative arch replacement after ascending and hemiarch replacement for Type A aortic dissection 6 years prior. Postoperative genetic testing revealed both vEDS and LDS, a unique genotype that has not been described before in the literature.

Synthesis and Structure-Activity Relationship of Thiourea Derivatives Against Leishmania amazonensis.

Background: Leishmaniasis, caused by Leishmania protozoa and transmitted by vectors, presents varied clinical manifestations based on parasite species and host immunity. The lack of effective vaccines or treatments has prompted research into new therapies, including thiourea derivatives, which have demonstrated antiprotozoal activities. Methods: We synthesized two series of N,N'-disubstituted thiourea derivatives through the reaction of isothiocyanates with amines. These compounds were evaluated in vitro against promastigote and amastigote forms of L. amazonensis, alongside cytotoxicity assessments on macrophages. In silico studies were conducted to analyze structure-activity relationships (SARs) and drug-likeness. Results: A total of fifty thiourea derivatives were synthesized and tested. Compound 3e from the first generation exhibited significant anti-leishmanial activity with an IC50 of 4.9 ± 1.2 µM and over 80-fold selectivity compared to that of miltefosine (IC50 = 7.5 ± 1.2 µM). The introduction of a piperazine ring in the second-generation thioureas enhanced potency and selectivity, with compound 5i achieving an IC50 of 1.8 ± 0.5 µM and a selectivity index of approximately 70. Pharmacokinetic predictions indicated favorable profiles for the active compounds. Conclusions: SAR and ADMET analyses identified compound 5i as the most promising candidate for further preclinical evaluation, suggesting that piperazine thiourea derivatives represent a novel class of anti-leishmanial agents.

Novel mutation in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II).

A rare type of autosomal recessive skeletal disorder, known as microcephalic osteodysplastic primordial dwarfism (MOPD) type II, causes a wide range of clinical abnormalities, including skeletal dysplasia, microcephaly, abnormal skin pigmentation, insulin resistance, typical facial features, and severe tooth deformities. Given the diverse manifestations of MOPD disorders and the overlapping clinical characteristics among primordial dwarfism (PD) subtypes, mutation analysis is crucial for accurate diagnosis and confirmation of MOPD II. In this study, whole-exome sequencing (WES) and GAP-PCR were employed to identify relevant genetic variants in three patients suspected of having MOPD.The clinical characteristics of three Iranian patients exhibiting hallmark features of MOPD were assessed. All patients were the offspring of consanguineous marriages and were referred from various provinces of Iran. WES was performed, and the identified variants were prioritized according to the standard filtration criteria. In the next step, Sanger sequencing was conducted to validate the candidate variants identified through WES in patients and their parents. Finally, GAP-PCR was implemented to resolve conflicting results between WES and Sanger sequencing for one of the patients.Analysis of three distinct cases revealed a novel homozygous copy number variation (CNV) in Case 3, consisting of a 490bp deletion harboring exon 19 in the PCNT gene. Additionally, a nonsense homozygous variant in the PCNT gene (c.2812C > T, p.Gln 938*) was found in Cases 1 and 2. This pathogenic variant has been previously documented in the literature.Reporting a novel deletion in the PCNT gene improves genetic testing services, including PND and pre-implantation genetic diagnosis (PGD) for MOPD II.

EGFDA: Experience-guided Fine-grained Domain Adaptation for cross-domain pneumonia diagnosis

Although recent advances in deep learning have led to accurate pneumonia diagnoses, their heavy reliance on data annotation hinders their expected performance in clinical practice. Unsupervised domain adaptation (UDA) methods have been developed to address the scarcity of annotations. Nevertheless, the diverse manifestations of pneumonia pose challenges for current UDA methods, including spatial lesion-preference bias and discriminative class-preference bias. To overcome these problems, we propose an Experience-Guided Fine-grained Domain Adaptation (EGFDA) framework for automatic cross-domain pneumonia diagnosis. Our framework consists of two main modules: (1) Gradient-aware Lesion Area Matching (GaLAM), which aims to reduce the global domain gap while avoiding misleading from lesion-unrelated targets, and (2) Reweighing Smooth Certainty-aware Matching (RSCaM), which aims to match class space with a smooth certainty-aware feature mapping to guide the model to learn more precise class-discriminative features. Benefiting from the collaboration between GaLAM and RSCaM, the proposed EGFDA is able to process unlabeled samples following a pattern similar to the diagnostic experience of physicians, that is, first locating the disease-related lesion area and then performing fine-grained discrimination. Comprehensive experiments on three different tasks using six datasets demonstrate the superior performance of our EGFDA. Furthermore, extensive ablation studies and visual analyses highlight the remarkable interpretability and generalization of the proposed method.

Biometrics and Biomarkers in Patients With Psoriasis.

Psoriasis (PsO) is a chronic, systemic, and autoimmune dermatologic condition characterized by dry, scaly,and erythematous plaques on the skin. PsO can present in various forms, including guttate (small, round lesions commonly over the upper trunk and extremities that can be raised and scaly), inverse (smooth plaques of inflamed skin within skin folds of the groin, buttock, and breasts), pustular (white painful pustules within red inflamed blotches widespread over the body), and erythrodermic (red rash present over most of the body). Individuals with PsO can present differently, with unique symptoms and patterns on the skin. These diverse manifestations make PsO a complex condition with mild to severe symptoms affecting different body areas. Researchers have identified intrinsic risk factors (and comorbidities) tied to PsO, including genetics, obesity, metabolic syndrome, infection, cardiovascular disease, stress, and type 2 diabetes mellitus (T2DM). In addition, several extrinsic risk factors have also been shown to be tied to PsO onset and progression, such as ultraviolet (UV) light, air pollution, and various pharmacological treatments. While these intrinsic and extrinsic factors have been tied to disease pathophysiology, the underlying mechanisms of disease activity have yet to be elucidated fully, making diagnosis and treatment cumbersome. Currently, PsO is diagnosed clinically with no definitive test. Noninvasive tools such as dermoscopy aid in diagnosis, while the biopsy is reserved for difficult-to-characterize psoriatic-like lesions. The reliance on clinical presentation and the lack of diagnostic testing available have led to the underdiagnosis of PsO, particularly in minority communities. The goal of this study is to utilize data from the National Health and Nutrition Examination Survey (NHANES) to improve the diagnosis of PsO and target treatment more effectively, and biometric measurements associated with PsO should be studied to aid clinical practitioners in better understanding the disease pathophysiology and improve patient diagnosis, management, and prognosis. Using the dataset, we conducted a retrospective cohort study to find which variables are significantly associated with PsO. These objective measurements can complement clinical assessments by providing quantifiable data that could improve accuracy by detecting PsO in its early stagesor distinguishing it from other skin conditions with similar presentations. This enables healthcare providers to adjust management strategies based on measurable changes in disease markers, rather than relying solely on subjective clinical observations.

Expert consensus on the multifaceted utility of alginates in addressing diverse manifestations of acid reflux

Gastroesophageal reflux disease (GERD) is one of the most frequent reasons for seeking outpatient gastroenterology consultations. Current professional guidelines advocate the use of proton pump inhibitors (PPIs) as the primary medical approach to manage GERD. However, PPIs may not be as effective, especially for certain patients like those with non-erosive reflux disease (NERD). An alternative strategy for addressing symptomatic GERD involves obstructing the flow of acidic refluxate. Alginate-based pharmaceutical formulations have proven effective in alleviating symptoms of acid reflux for many years and provide rapid relief of symptoms with a long duration of action. Alginic acid derivatives, or alginates, combat acid reflux through a unique mechanism: they create a physical barrier that displaces the post-prandial acid pocket. Alginates have recently garnered renewed interest for promoting symptomatic relief especially when employed alongside antacids or PPIs. Here, the role of alginates is reviewed in the treatment of various profiles of acid reflux, including post-prandial acid reflux, nocturnal GERD, refractory GERD, and GERD during pregnancy, along with the opinion of expert gastroenterologists on the same. The experts believed that not all alginate formulations are equivalent and raft strength is the most important physicochemical property to be considered while selecting the alginate-based product. The physicochemical properties of the rafts eventually impact their effectiveness in relieving symptoms in clinical settings.

Innovative way for treating depression: The potential effects and mechanism of probiotics in coping with MDD

Abstract. Depression is a multifaceted psychiatric condition affecting more than 280 million individuals globally across diverse age brackets, constituting 12.3% of the worldwide disease burden. Among the varied manifestations, Major Depressive Disorder (MDD) stands out as a prevalent and severe form of psychopathology. The origins of depression, while not fully elucidated, are generally attributed to the intricate interplay of environmental, societal, and individual factors. Recent preclinical and clinical investigations have posited a potential association between dysbiosis, characterized by alterations in gut microbiota composition and function, and the initiation and progression of depression. Nevertheless, the precise mechanisms remain unclear, and the gut microbiota has not been a primary focal point in depression therapeutic strategies. This review outlines conceivable mechanisms linking dysbiosis in the gut microbiota to the development of depression, elucidating the intricate relationship between dysbiosis and depressive conditions. Additionally, it explores the interplay between pharmacological interventions and the gut microbiota in the context of antidepressant therapy. Simultaneously, the article investigates the potential and merits of probiotics and prebiotics as tools to modulate gut microbiota and maintain a stable gut microenvironment, positioning them as innovative agents in antidepressant therapy. This perspective introduces a novel trajectory for future research and clinical approaches in depression, underscoring the significance of preserving gut microbiota equilibrium as a promising avenue for intervention.

Mechanisms and Implications of Electrical Heterogeneity in Cardiac Function in Ischemic Heart Disease.

A healthy heart shows intrinsic electrical heterogeneities that play a significant role in cardiac activation and repolarization. However, cardiac diseases may perturb the baseline electrical properties of the healthy cardiac tissue, leading to increased arrhythmic risk and compromised cardiac functions. Moreover, biological variability among patients produces a wide range of clinical symptoms, which complicates the treatment and diagnosis of cardiac diseases. Ischemic heart disease is usually caused by a partial or complete blockage of a coronary artery. The onset of the disease begins with myocardial ischemia, which can develop into myocardial infarction if it persists for an extended period. The progressive regional tissue remodeling leads to increased electrical heterogeneities, with adverse consequences on arrhythmic risk, cardiac mechanics, and mortality. This review aims to summarize the key role of electrical heterogeneities in the heart on cardiac function and diseases. Ischemic heart disease has been chosen as an example to show how adverse electrical remodeling at different stages may lead to variable manifestations in patients. For this, we have reviewed the dynamic electrophysiological and structural remodeling from the onset of acute myocardial ischemia and reperfusion to acute and chronic stages post-myocardial infarction. The arrhythmic mechanisms, patient phenotypes, risk stratification at different stages, and patient management strategies are also discussed. Finally, we provide a brief review on how computational approaches incorporate human electrophysiological heterogeneity to facilitate basic and translational research.

A Comprehensive Review of Splenic Cysts: Case Reports and Clinical Insight.

Splenic cysts, although rare, present a diagnostic and therapeutic challenge due to their varied etiologies and clinical manifestations. This review synthesizes the current understanding of splenic cysts through an analysis of thirteen case reports spanning from 1988 to 2023. Etiologies include epithelial, parasitic, and sarcomatous origins. Diagnostic modalities, including imaging and histopathology, facilitate accurate classification and inform subsequent management decisions. Various surgical techniques, including laparoscopic and spleen-preserving approaches, have been employed with favorable outcomes. This review provides insights into the pathogenesis, classification, diagnostic workup, and treatment modalities of splenic cysts based on collective experiences reported in the literature.

Effects of Nigella sativa on disease activity, T lymphocytes and inflammatory cytokine profiles in pediatric systemic lupus erythematosus: A randomized controlled trial

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with diverse manifestations, requiring long-term treatment that can have side effects, particularly in pediatric patients. Nigella sativa (NS) has shown potential for improving SLE symptoms due to its anti-inflammatory and immunomodulatory effects. The aim of this study was to investigate the immunomodulatory effect of N. sativa oil (NSO) on disease activity, T lymphocyte activity and inflammatory cytokine profiles in pediatric SLE patients. A randomized, double-blinded, placebo-controlled clinical trial was conducted at Saiful Anwar Hospital in Malang, Indonesia, from January 2022 to January 2023. Pediatric patients with SLE were randomly assigned to receive either one gram of NSO or a placebo containing starch in capsule form as adjunct therapy alongside their SLE primary treatment. Blood samples were collected before treatment and after eight weeks of daily capsules. Disease activity was assessed using the SLE Disease Activity Index 2000 (SLEDAI-2K); flow cytometry was used to identify T helper lymphocytes, and serum cytokine levels were measured using ELISA. The statistical analysis tests were performed to compare the outcomes between groups at baseline or after the treatment, and within-group comparisons before and after the study period, as appropriate. A total of 32 patients were included in the study. A significant decrease in the SLEDAI-2K score was observed at post-treatment in both the NSO and placebo groups (p<0.001 and p=0.025, respectively). The percentage of T helper 17 (Th17) cells was significantly reduced in both the NSO and placebo groups post-treatment compared to pre-treatment (p=0.026 and p=0.034, respectively). Conversely, the post-treatment percentage of regulatory T (Treg) cells increased significantly in both groups. A significant reduction in interleukin (IL)-2 levels was observed in the NSO and placebo groups at post-treatment compared to pre-treatment (p=0.006 and p=0.046, respectively). Additionally, there were increases in IL-4 and IL-6 serum levels in both groups at post-treatment compared to pre-treatment (p<0.05). This study highlights that although disease activity was not significantly different between NSO and placebo groups, NSO could affect the inflammatory cytokine profiles in pediatric SLE patients.

Case report: orthostatic hypotension as the first presentation of progressive encephalomyelitis with rigidity and myoclonus (PERM) with multiple autoimmune antibodies

IntroductionStiff person syndrome (SPS) is a rare disease characterized by axial and lower-extremity muscle rigidity, muscle spasm, and pain. Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a variant of SPS. This case is particularly notable for its uncommon initial symptom: orthostatic hypotension, coupled with the presence of multiple antibodies. Such a presentation is a rarity in the context of PERM, thus providing a fresh and unique angle for both diagnosis and treatment.Case presentationThis case presents a 71-year-old man who was ultimately diagnosed with progressive encephalomyelitis with rigidity and myoclonus (PERM). His initial symptom was orthostatic hypotension, and we detected multiple antibodies such as GlyR antibody, GAD antibody, GM1-IgG and GQ1b-IgG in his serum. The patient showed partial response to glucocorticoid and immunoglobulin therapies, but as the disease recurred and progressed, plasma exchange, rituximab, and cyclophosphamide immunosuppressive therapy was administered, the prognosis remained poor. During follow-up after treatment, the patient developed pulmonary embolism and cardiac arrest, and died.ConclusionPERM exhibits diverse manifestation and pathogenic mechanisms. Immune heterogeneity affects clinical symptoms and prognosis. Cases of PERM combined with orthostatic hypotension and various antibodies have rarely been reported, the incidence and the specific mechanism is unknown, underscoring the need for further research. This case report underscores the importance of recognizing the diverse clinical presentations of PERM and the challenges in its diagnosis and management. It highlights autonomic dysfunction may be as the initial symptom of PERM. Moreover, it emphasizes the limitations of current treatment modalities and the necessity for further research to elucidate the underlying mechanisms and optimize therapeutic approaches for this debilitating autoimmune condition.