Neuropsychiatric Manifestations Research Articles

Depression, Ulcers and Confusion – A Clinical Case of Behçet’s Disease with Psychiatric Presentation

IntroductionBehçet’s disease, a rare autoimmune disorder, can present a challenging diagnostic puzzle, particularly when neuropsychiatric symptoms take the forefront. In this case study, we delve into the diagnostic process of a 43-year-old patient without prior psychiatric history, who initially presented with depressive and catatonic symptoms. The trajectory from psychiatric admission to a final diagnosis of Behçet’s disease with neuropsychiatric involvement underscores the importance of interdisciplinary collaboration and the consideration of rare diseases in psychiatric assessment. Clinical remission was achieved with immunosuppressive therapy.ObjectivesPresentation of a clinical case of Behçet’s disease with neuropsychiatric manifestations.MethodsReview of the patient’s clinical data in SOARIAN platform and research on UptoDate and Pubmed using the terms “Catatonia,” “Behçet disease,” “Neuro-Behçet,” and “Psychiatry.”ResultsWe present a clinical case of a 43-year-old patient, originally from India, not fluent in Portuguese or English, with no prior psychiatric history, who presented to the emergency department exhibiting mutism and was admitted to the psychiatry department with the diagnostic hypothesis of depressive episode with psychotic and catatonic symptoms. During hospitalization, severe vitamin deficiencies, gastrointestinal symptoms (vomiting, abdominal pain, and hematochezia), and gynecological symptoms (dyspareunia and vaginal discharge) were observed. From a psychiatric perspective, in addition to depressive and psychotic symptoms, atypical symptomatology incongruent with the initial diagnosis was identified, raising suspicion of an “organic” disease. There was an atypical fluctuation in symptoms, with periods of severe behavioral disorganization interspersed with periods of apathy and psychomotor retardation, significant alterations in attention and memory, and executive deficits. Additionally, there was a poor response to psychiatric medication and electroconvulsive therapy. A colonoscopy revealed ulcers at the ileocecal valve, and gynecological lesions suggestive of a vasculitic process were observed. Autoimmunity testing showed positivity for HLA B51/52. Given the neuropsychiatric, gastrointestinal, and gynecological manifestations, along with suggestive autoimmunity, the diagnosis of Behçet’s Disease with neurological involvement was established. Clinical remission was achieved only with immunosuppressive therapy. The case is enriched by the complex diagnostic journey, multiple complications encountered (including valproic acid-induced encephalopathy), and the challenges faced in treating neuropsychiatric manifestations.ConclusionsThis clinical case exemplifies the challenges in diagnosing a systemic disease with primary psychiatric presentation, as well as the therapeutic success resulting from multidisciplinary collaboration in a public hospital.Disclosure of InterestNone Declared

Globus Pallidus Lesion With Iron Deposition and Dopaminergic Denervation in a Patient With a Pathogenic SLC6A1 Variant: A Case Report.

SLC6A1-related disorders encompass heterogeneous neuropsychiatric manifestations through GABAergic dysregulation, without any specific abnormalities on brain MRI, nor evidence of dopaminergic cell loss on I123-FP-β-CIT SPECT. We report here a case of globus pallidus lesions and dopaminergic denervation in a patient with a pathogenic SLC6A1 variant. A 26-year-old female patient with intellectual disability, behavioral, and psychiatric disorders treated by neuroleptics for many years developed a parkinsonian syndrome associated with mild hand dystonia and chorea. A 3T brain MRI and I123-FP-β-CIT SPECT were performed. MRI of the brain found bilateral pallidal lesions consistent with neurodegeneration with iron accumulation. The I123-FP-β-CIT SPECT showed bilateral striatal presynaptic dopaminergic denervation. Whole-genome sequencing revealed a pathogenic SLC6A1 de novo variant. No additional variant was found in any of the genes responsible for Neurodegeneration with Brain Iron Accumulation (NBIA). This is a description of dopaminergic denervation and globus pallidus lesions with iron accumulation related to a SLC6A1 pathogenic variant. These findings expand the phenotype of SLC6A1-related disorder and suggest that it could be considered as a differential diagnosis of NBIA.

Neuropsychiatric Manifestations of Tuberous Sclerosis in a young adult male in a Psychiatry Hospital in Botswana: a case report

IntroductionTuberous sclerosis complex (TSC) is a disorder that affects multiple systems and was first described in 1880. Its symptoms include seizures, intellectual disability, and adenoma sebaceum. TSC is caused by mutations in the TSC1 and TSC2 genes and is inherited in an autosomal dominant manner.ObjectivesThis report highlights a case of a patient with an unusual psychological presentation evaluated in a psychiatric hospital.MethodsThe patient presented with psychotic features and abnormal behavior. A physical examination showed neurocutaneous lesions. After assessment a diagnosis of Tuberous sclerosis complex was confirmed through MRI Brain and genetic testing. Some of his relatives also showed similar neuropsychiatric symptoms.ResultsTuberous sclerosis complex is diagnosed based on TSC Clinical Consensus Group guidelines of 2012. Our patient fulfilled 4 of the major criteria and genetic testing also yielded a pathogenic variant. A TAND checklist (TSC-Associated Neuropsychiatric Disorders) is used to guide clinicians on areas to prioritize when managing TSC patients.Image:Image 2:Image 3:ConclusionsGiven that psychiatry may be the first contact for TSC patients, especially in low-resource settings. Patients referred to psychiatry, therefore, need to be thoroughly examined to exclude neuropsychiatric disorders, and a multidisciplinary team approach is vital in investigating and managing these cases.Disclosure of InterestNone Declared

Neuropsychiatric manifestation in patients with systemic lupus erythematosus: A unique case series

Neuropsychiatric systemic lupus erythematosus (NPSLE) affects the brain, spinal cord, or other nerves and leads to neurological and psychiatric symptoms directly related to SLE. We report a series of four female patients with NPSLE as the first presentation for SLE. None of them were previously diagnosed with SLE. The first case involved a 50-year-old patient who presented with back pain and lower limb weakness for three weeks associated with numbness. A lumbar puncture was done, and CSF analysis showed high WBC and normal glucose levels with negative CSF cultures for bacteria. The patient was diagnosed with aseptic meningitis and treated with antibiotics and antiviral medication without improvement. So she was treated as a case of SLE aseptic meningitis with steroids. In the second case, a 20-year-old patient had a generalized tonic-clonic seizure with the acute manifestation of hypertensive urgency. Magnetic resonance imaging (MRI) was done and suggested posterior reversible encephalopathy syndrome (PRES). The third case was for a 38-year-old patient who complained of dizziness, general weakness, and convulsion. On review of the systems, the patients had positive symptoms of SLE. Anti-nuclear antibody (ANA) and double-stranded ds-DNA were positive. Computed tomography (CT) scans were done and showed a thymoma. The patient was diagnosed with SLE in association with focal seizures and thymoma. In the last case, a 44-year-old patient presented with tongue heaviness and right-side weakness. MRI revealed small acute lacunar infarction scattered at both cerebral hemispheres and the right side of the cerebellum, and chest CT showed pulmonary embolism (PE). The patient was diagnosed with an acute ischemic stroke and PE related to SLE. In conclusion, the neurological manifestations of SLE are a significant issue for both patients and clinicians. Here we report a unique case series and describe the prognosis and outcome of the treatment in these cases.

Refractory focal epilepsy as a rare clinical presentation of systemic lupus erythematosus

Systemic Lupus Erythematosus (SLE) is a chronic autoimmune multisystem disease with prominent neuropsychiatric manifestations. Neuropsychiatric features are seen early in the course of disease with seizures forming one of the most frequent manifestations of Neuro Psychiatric Systemic Lupus Erythematosus (NPSLE). The mechanism of seizure is contemplated to be immune mediated. Both generalised and focal seizures are seen in SLE. They can sometimes be the only symptom marking the onset of disease in the absence of other commonly encountered clinical features of the disease. We report cases of two young females who were diagnosed and treated as drug resistant focal onset seizures with impaired awareness which later turned out to be NPSLE. Both patients showed dramatic response when initiated on immunotherapy. These cases highlight the importance of considering an immune mediated process when a young female presents with pharmacoresistant localisation related epilepsy.

ASSOCIATION OF PHYSICAL AND NEUROPSYCHIATRIC MORBIDITIES WITH THE SEVERITY AND MORTALITY OF COVID-19 PATIENTS IN PAKISTAN

Objective: This study aimed to find out the association of co-morbidities; risk factors and complications, with the severity and mortality of Covid-19 patients in our set of population Methodology: Covid-19-positive patients (151) ages 18-80, were recruited, (June 2022 to May 2023) from Ziauddin Hospital, after informed consent and approval from Ethics Committee. The questionnaire recorded patients’ demographic variables, laboratory investigations, past medical history, and family history. Follow-up co-morbidities, recovery, death, or LAMA (Leave Against Medical Advice) data was taken from hospital records. Analyses were done using (SPSS) software. P-values of <0.05 were considered significant. Results: Out of 151 patients; females were 56 (37%) and males 95 (63%). Among these 82(54.3%) recovered, 52(34.4%) passed away and 17(11.2%) LAMA. Deaths in males 40(26.4%), were higher, compared to females 12(7.9%). Overall 84 (56%), suffered severe infection, 24 (16%) moderate and 43 (28%) mild. The most common risk factors were complications of the heart (hypertension) 35(42.7) followed by diabetes 27 (32.9) (p<0.001). Neuropsychiatric manifestations such as depression 36(23.8), was highest among post covid-19 complications, 14 (17.07%) patients had stroke out of which 9(17.3) could not survive. The most common cause leading to covid 19 severity was Pneumonia 76(80%) then diabetes 63(80%) and hypertension 69(78%) (p<0.001). Majority of patients, 88(58.3%) were above 50 years of age, 35(23.2%) between 25-50 and 28(185%) <25 years. Conclusion: The most common risk factor of Covid-19 were complications of the heart and diabetes. Highest post covid-19 complication among survivors was depression. The highest complication leading to death was Pneumonia.

Family case of Potocki-Lupski syndrome

BackgroundPotocki-Lupski syndrome (PTLS, OMIM # 610883) is a rare genetic developmental disorder resulting from a partial heterozygous microduplication at chromosome 17p11.2. The condition is characterized by a wide variability of clinical expression, which can make its clinical and molecular diagnosis challenging.Case presentationWe report here a family (mother and her two children) diagnosed with PTLS. When examining children, neurological and psychological (neuropsychiatric) manifestations (speech delay, mild mental retardation), motor disorders, craniofacial dysmorphism (microcephaly, dolichocephaly, triangular face, wide bulging forehead, long chin, antimongoloid slant, "elfin" ears) were revealed. The suspected clinical diagnosis was confirmed by MLPA and CMA molecular genetic testing which revealed the presence of a segmental aneusomy; microduplication in the 17p11.2 region.ConclusionsChildren with PTLS can have a clinically recognizable and specific phenotype: craniofacial dysmorphism, motor and neurological manifestations, which may implicate a possible genetic disease to the attending physician. Moreover, each child with this syndrome is unique and may have a different clinical picture. The management of such patients requires a multidisciplinary team approach, including medical genetic counseling.

Clinical and Imaging Profile of Patients with Cerebrotendinous Xanthomatosis - a Video Case Series from India.

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by bi-allelic pathogenic variants in CYP27A1 gene that results in the deposition of cholestanol in the eyes, tendons, soft tissues and nervous system leading to cataracts, xanthomas, and various neuropsychiatric manifestations. The aim of our study is to describe the clinical, radiological and genetic profile of patients with CTX. This is a retrospective chart review of patients with CTX diagnosed based on classical clinical and radiological findings. The available clinical details, and investigations, including imaging, electrophysiological, pathological and genetic data, were documented. Five patients (4 males) were recruited in the study. The median age at presentation was 32 years (range: 21-66 years). Walking difficulty was the most common symptom at presentation. All patients had cataracts, tendon xanthomas, eye movement abnormalities, dysarthria, pyramidal signs, ataxia and gait abnormality. Dystonia was noted in three patients. Palatal tremor and parkinsonism were noted in one patient each. In MRI brain, dentate, and corticospinal tract involvement were the most frequent imaging findings. Bilateral hypertrophic olivary degeneration was noted in one patient and hot cross bun sign in two. Three patients underwent genetic testing and all had pathogenic variants confirming the diagnosis. CTX is a rare treatable disorder. Apart from the usual neurological presentation with spastic-ataxia, it can present at a later age with parkinsonism. Typical patterns of imaging findings are helpful in early diagnosis which aids in the treatment to prevent the neurological sequelae of the disease.

Otras enfermedades hepáticas de causa genética, metabólica y endocrinológica

Liver diseases of genetic origin comprise a series of diseases that manifest as abnormalities in liver structure and/or function due to genetic mutations. This update will discuss some of them, such as alpha-1 antitrypsin deficiency (A1AT), Wilson's disease, lysosomal acid lipase deficiency (LAL-D), and other congenital diseases related to bile acid and bilirubin metabolism.Alpha-1 antitrypsin deficiency is an autosomal codominant condition characterized by a decrease in secretion of alpha-1 antitrypsin protein, which acts as an inhibitor of neutrophil elastase. This results in liver and lung damage due to an accumulation of misfolded protein in hepatocytes and uncontrolled elastase activity. On the other hand, in Wilson's disease, an autosomal recessive disorder, mutations in the ATP7B gene impair copper metabolism. This results in an accumulation of toxic copper in the liver and other organs, causing hepatitis, cirrhosis, and neuropsychiatric manifestations. Lysosomal acid lipase deficiency is an autosomal recessive disorder caused by mutations in the LIPA gene. This results in the accumulation of cholesterol and triglyceride esters in lysosomes, leading to hepatomegaly, hyperlipidemia, and premature atherosclerosis. Finally, the set of diseases related to bilirubin and bile acid metabolism involve abnormalities in the production, transport, and excretion of bilirubin and bile acids. They are associated with cholestasis and hepatocellular damage, which can lead to liver failure and death.

Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants.

Primary familial brain calcification (PFBC) is a neurodegenerative disease characterised by bilateral calcification in the brain, especially in the basal ganglia, leading to neurological and neuropsychiatric manifestations. White matter hyperintensities (WMH) have been described in patients with PFBC and pathogenic variants in the gene for platelet-derived growth factor beta polypeptide (PDGFB), suggesting a manifest cerebrovascular process. We present below the cases of two PFBC families with PDGFB variants and stroke or transient ischaemic attack (TIA) episodes. We examine the possible correlation between PFBC and vascular events as stroke/TIA, and evaluate whether signs for vascular disease in this condition are systemic or limited to the cerebral vessels. Two Swedish families with novel truncating PDGFB variants, p.Gln140* and p.Arg191*, are described clinically and radiologically. Subcutaneous capillary vessels in affected and unaffected family members were examined by light and electron microscopy. All mutation carriers showed WMH and bilateral brain calcifications. The clinical presentations differed, with movement disorder symptoms dominating in family A, and psychiatric symptoms in family B. However, affected members of both families had stroke, TIA, and/or asymptomatic intracerebral ischaemic lesions. Only one of the patients had classical vascular risk factors. Skin microvasculature was normal. Patients with these PDGFB variants develop microvascular changes in the brain, but not the skin. PDGFB-related small vessel disease can manifest radiologically as cerebral haemorrhage or ischaemia, and may explain TIA or stroke in patients without other vascular risk factors.

Neuropsychiatric manifestations in patients with Systemic Lupus Erythematosus: A case series

Neuropsychiatric systemic lupus erythematosus (NPSLE) can affect both the brain and spinal cord and present with variable neurologic manifestations, including 19 neurologic syndromes according to the ACR (American College of Rheumatology), leading to diverse neurological and psychiatric symptoms ranging from nonspecific symptoms like a headache to devastating symptoms such as seizures and stroke, making NPSLE an important accomplice in morbidity and mortality, which are seen in SLE population. Its management options are still inadequately optimized due to its challenging diversity in presentation, reflecting a range of different pathogenic mechanisms. A better understanding of SLE presentation might improve the present options for managing NPSLE. Here we report a series of five female patients with NPSLE. Out of the five presented cases, four patients have neurological features as an initial manifestation of SLE, which is considered uncommon. The first case of a 50-year-old female patient who had aseptic meningitis presented with headache, back pain, and lower limb weakness associated with numbness after 11 years of being diagnosed with SLE. The second case is of a 20-year-old female patient who had a generalized tonic-clonic seizure with the acute manifestation of hypertensive urgency and posterior reversible encephalopathy syndrome (PRES) as an initial manifestation of SLE. The third case is of a 38-year-old female patient who presented with an acute focal seizure as an initial manifestation of SLE. In the last two cases, a 38-year-old and a 19-year-old female patient presented with an ischemic stroke as the initial manifestation of SLE. On a final note, clinicians should always have SLE in mind as a differential diagnosis when it comes to acute neurological features presenting in any patient with SLE manifestations.

Therapeutic strategies and outcomes in neuropsychiatric systemic lupus erythematosus: an international multicentre retrospective study.

The management of neuropsychiatric systemic lupus erythematosus (NPSLE) poses considerable challenges due to limited clinical trials. Therapeutic decisions are customized based on suspected pathogenic mechanisms and symptoms severity. This study aimed to investigate therapeutic strategies and disease outcome for patients with NPSLE experiencing their first neuropsychiatric (NP) manifestation. This retrospective cohort study defined NP events according to the American College of Rheumatology case definition, categorizing them into three clusters: central/diffuse, central/focal and peripheral. Clinical judgment and a validated attribution algorithm were used for NP event attribution. Data included demographic variables, SLE disease activity index, cumulative organ damage, and NP manifestation treatments. The clinical outcome of all NP events was determined by a physician seven-point Likert scale. Predictors of clinical improvement/resolution were investigated in a multivariable logistic regression analysis. The analysis included 350 events. Immunosuppressants and corticosteroids were more frequently initiated/escalated for SLE-attributed central diffuse or focal NP manifestations. At 12 months of follow-up, 64% of patients showed a clinical improvement in NP manifestations. Focal central events and SLE-attributed manifestations correlated with higher rates of clinical improvement. Patients with NP manifestations attributed to SLE according to clinical judgment and treated with immunosuppressants had a significantly higher probability of achieving clinical response (OR 2.55, 95%CI 1.06-6.41, P = 0.04). Age at diagnosis and focal central events emerged as additional response predictors. NP manifestations attributed to SLE by clinical judgment and treated with immunosuppressants demonstrated improved 12-month outcomes. This underscores the importance of accurate attribution and timely diagnosis of NPSLE.

Micronized/ultramicronized palmitoylethanolamide improves depression and fatigue in coronavirus disease 2019 (COVID-19) survivors.

Coronavirus disease 2019 (COVID-19) may lead to neuropsychiatric sequelae. Palmitoylethanolamide (PEA) is an anti-inflammatory and neuroprotective amide used in depressive syndromes. Here we investigate whether micronized/ultramicronized (m/um) PEA improves neuropsychiatric sequelae in COVID-19 survivors. Patients evaluated at our post-COVID-19 outpatient clinic between February and August 2021 and presenting neuropsychiatric manifestations (n = 98) were offered treatment with m/umPEA 600 mg twice daily for 3 months. Those accepting m/umPEA therapy (n = 57) were compared with those who did not (n = 41), in terms of depression, fatigue, chronic pain and subjective well-being, through validated scales administered pre- and posttreatment. The two groups did not differ in terms of demographics, comorbidities, psychiatric history, antidepressant therapy, acute COVID-19 severity and baseline neuropsychiatric status. Patients receiving m/umPEA showed a greater improvement in depression and fatigue (both P < 0.05). Conversely, no association was found with changes in chronic pain or subjective well-being. At multivariable logistic regression, m/umPEA predicted neuropsychiatric improvement independently of age, sex and baseline neuropsychiatric status. Worse pretreatment fatigue and subjective well-being identified those who most likely benefited from treatment. In conclusion, despite its retrospective nature, our study suggests that m/umPEA may improve depression and fatigue in COVID-19 survivors, justifying future research in this setting.

The simultaneous presence of demoralization, apathy, and depression has a detrimental impact on both cognitive function and motor symptoms in Parkinson's disease patients.

Parkinson's disease (PD) is marked not only by motor symptoms but also by neuropsychiatric manifestations, including demoralization, apathy, and depression. Understanding the clinical distribution and characteristics of these co-occurring symptoms is crucial for improving quality of life of PD patients. This study enrolled 195 Chinese PD patients from Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine. The study involved analyzing the clinical characteristics related to the simultaneous presence of demoralization, apathy, and depression in PD patients. Linear regression was employed to elucidate the linear trend between the quantity of negative neuropsychiatric symptoms and cognitive function, as well as motor symptoms and motor complications. SPSS mediation models were utilized to investigate whether the severity of cognitive function mediated the connection between multiple negative neuropsychiatric symptoms and motor symptoms. Among PD patients, a notable 57.5% experience the presence of multiple concurrent negative neuropsychiatric symptoms. Our investigation unveiled a correlation where patients with more negative neuropsychiatric symptoms displayed heightened cognitive impairment (P=0.048) and more severe motor symptoms (P=0.024), following a linear trend with increasing symptom numbers. Additionally, cognitive impairment played a partial mediating role in the impact of multiple negative neuropsychiatric symptoms on motor symptoms (β=0.747; 95% bootstrap confidence interval: 0.195 to 1.532). The co-occurrence of these negative neuropsychiatric symptoms has the potential to worsen cognitive function and motor symptoms in PD patients. Moreover, cognitive impairment was identified as playing a partial mediating role in the relationship between multiple negative neuropsychiatric symptoms and motor symptoms.

Neuropsychiatric Systemic Lupus Erythematosus: Molecules Involved in Its Imunopathogenesis, Clinical Features, and Treatment.

Systemic lupus erythematosus (SLE) is an idiopathic chronic autoimmune disease that can affect any organ in the body, including the neurological system. Multiple factors, such as environmental (infections), genetic (many HLA alleles including DR2 and DR3, and genes including C4), and immunological influences on self-antigens, such as nuclear antigens, lead to the formation of multiple autoantibodies that cause deleterious damage to bodily tissues and organs. The production of autoantibodies, such as anti-dsDNA, anti-SS(A), anti-SS(B), anti-Smith, and anti-neuronal DNA are characteristic features of this disease. This autoimmune disease results from a failure of the mechanisms responsible for maintaining self-tolerance in T cells, B cells, or both. Immune complexes, circulating antibodies, cytokines, and autoreactive T lymphocytes are responsible for tissue injury in this autoimmune disease. The diagnosis of SLE is a rheumatological challenge despite the availability of clinical criteria. NPSLE was previously referred to as lupus cerebritis or lupus sclerosis. However, these terms are no longer recommended because there is no definitive pathological cause for the neuropsychiatric manifestations of SLE. Currently, the treatment options are primarily based on symptomatic presentations. These include the use of antipsychotics, antidepressants, and anxiolytic medications for the treatment of psychiatric and mood disorders. Antiepileptic drugs to treat seizures, and immunosuppressants (e.g., corticosteroids, azathioprine, and mycophenolate mofetil), are directed against inflammatory responses along with non-pharmacological interventions.

A new perspective on vitamin B12 deficiency in rheumatology: a case-based review.

Vitamin B12 (cobalamin) deficiency is common in patients with rheumatic diseases. Pernicious anemia is a well-known cause, but recent reports suggest that autoimmune-derived deficiency may not be limited to this cause alone. Symptoms of low vitamin B12 concentration are often deceptive, mimicking and overlapping with symptoms of other conditions. Neuropsychiatric manifestations, anemia, and fatigue are frequently attributed to a rheumatic disease without further evaluation. In this study, we present three cases of patients with neuropathic pain, depression, fatigue, and muscle weakness, initially attributed to a rheumatic disease, which almost completely resolved after implementing vitamin B12 supplementation. Furthermore, we provide an overview of current scientific reports regarding the potential use of cobalamin in rheumatology. Treatment of pain and neuropathy, often very challenging in long-lasting rheumatic diseases, can be more effective after a course of vitamin B12, even when no apparent deficiency is detected in laboratory tests. Considering recent research demonstrating vitamin B12's nerve-protecting properties, we recommend that physicians should assess vitamin B12 levels early in the diagnostic process of rheumatic diseases. In specific cases, physicians should consider cobalamin supplementation regardless of vitamin B12 serum concentration.

Interaction of 5-HTTLPR and SLE disease status on resting-state brain function

BackgroundNeuropsychiatric involvement in systemic lupus erythematosus (SLE) is a common clinical manifestation. In SLE patients, cerebral function is a more sensitive predictor of central nervous system damage, and abnormalities in cerebral function may be apparent before substantial neuropsychiatric symptoms occur. The 5-hydroxynyptamine(5-HT) system has the ability to interact with the majority of the neurochemical systems in the central nervous system (CNS), influencing brain function. Serotonin transporter gene-linked polymorphic region (5-HTTLPR) is an essential element of the 5-HT system gene polymorphism and is directly related to the control of 5-hydroxytryptamine transporter (5-HTT)gene expression. The relationship between 5-HTTLPR and functional brain measurements in SLE patients requires more investigation because it is one of the most attractive imaging genetics targets for shedding light on the pathophysiology of neuropsychiatric lupus.MethodsResting-state functional magnetic resonance imaging (rs-fMRI) images were collected from 51 SLE patients without obvious neuropsychiatric manifestations and 44 healthy volunteers. Regional homogeneity (ReHo), amplitude of low-frequency fluctuations (ALFF), and fractional amplitude of low-frequency fluctuations (fALFF) were selected as indicators for evaluating brain function. In accordance with the Anatomical Automatic Labeling template, the gray matter was divided into 116 regions. The mean ReHo value, mean ALFF value, and mean fALFF value of each brain region were extracted. 5-HTTLPR genotypes of all research objects were tested by polymerase chain reaction and agarose gel electrophoresis. Two-way analysis of covariance was used to investigate whether there is an interaction effect between SLE disease status and 5-HTTLPR genotype on resting-state brain function.ResultsIn SLE patients with S/S homozygosity, there were notably lower mean ReHo, mean ALFF, and mean fALFF values observed in the right parietal, inferior angular gyrus, and the right paracentral lobule compared to healthy controls. However, this distinction was not evident among carriers of the L allele. Within the S/S genotype, SLE patients exhibited decreased mean ReHo in the left posterior cingulate gyrus, reduced mean fALFF in the left caudate nucleus, and diminished mean ALFF in the left temporal pole: superior temporal gyrus, in contrast to the HC group. Conversely, no such differences were discerned among carriers of the L allele. Notably, among L allele carriers, SLE patients displayed a higher mean ReHo value in the right hippocampus compared to the HC group, while demonstrating a lower mean ALFF value in the left medial and paracingulate gyrus in contrast to the HC group. Conversely, these differences were not apparent among S/S homozygotes.ConclusionsBrain function in the right parietal and inferior angular gyrus and the right paracentral lobule is affected by the interaction effect of SLE disease status and 5-HTTLPR genotype.

Neuropsychiatric manifestations of COVID-19: a literature review

The recent emergence of COVID-19, associated with its rapid expansion and systemic involvement, leads to a lack of knowledge regarding the scope of manifestations resulting from the disease. Thus, post-COVID syndrome constitutes several persistent sequelae after the period of SARS-COV-2 infection, which have not yet been completely elucidated. This study, therefore, aims to review in the literature the conditions resulting from post-COVID syndrome in the nervous system and also psychiatric scope. Thus, psychiatric disorders, sleep disorders, cognitive deficits, neurovascular disorders, syndromes related to the central and peripheral nervous systems were observed in this condition and described in this study. Furthermore, it characterizes the risk factors related to greater involvement in certain populations, such as female sex and chronic diseases, and greater severity of COVID-19, which, in general, have a pathophysiological relationship based on the exacerbation of the inflammatory process of these conditions and that arising from SARS-COV-2 infection. It is worth highlighting the importance of the biopsychosocial aspect when observing the stressful nature generated by social isolation and its consequences.

Nutrition Status And Neuropsychiatric Disorders In Indonesian Childhood Lupus: Experience At A Single Tertiary Referral Center

NPSLE diagnosis is still challenging because of many SLE-related and non-SLE-related processes that can be presented in patient. The report of NPSLE in Indonesia is still limited. This study aim to describe the clinical features, nutrition status, and laboratory characteristics of Neuropsychiatric Systemic Lupus Erythematosus (NPSLE) and compared to non NPSLE case in Indonesian children. The study is a retrospective cohort study. Data were collected from the complete medical record of Juvenile Systemic lupus Erythematosus (jSLE) patients 2016 - 2020 at the Allergy Immunology Outpatient clinic at Dr. Soetomo General Academic Hospital. We include all patients with ages ranging from age 0-18 years old with a diagnosis of Systemic lupus Erythematosus (SLE). The diagnosis fo SLE based on American College of Rheumatology (ACR) criteria 1997 and Neuropsychiatric (NP) manifestations were classified using the standardized nomenclature and case definitions for the 19 NP manifestations linked to SLE developed in 1999 by the ACR ad hoc Committee. Disease activity SLE was defined according to the American Mexican-Systemic Lupus Erythematosus Disease Activity Index (Mex-SLEDAI) criteria. Statistical analysis conducted in this study was descriptive analysis, paired T-test (NPSLE vs. non-NPSLE as the dependent variable), Fischer exact test, and Pearson Chi-square test using SPSS ver. 21. A total of 90 patients with juvenile SLE were enrolled, but only 71 patients were eligible as participants with complete medical records obtained. Mex-SLEDAI score was significantly higher on NPSLE compared to non-NPSLE (p=0.001).

Refractory systemic lupus erythematosus with neuropsychiatric manifestations successfully treated with anifrolumab

Refractory systemic lupus erythematosus with neuropsychiatric manifestations successfully treated with anifrolumab