Variable Clinical Presentation Research Articles

Are We Over-Diagnosing Tuberculosis? IgG4-Related Disease is Another “Great Imitator”: A Review

Tuberculosis (TB) has a notorious role as the “great imitator”–frequently mimicking a variety of infectious and non-infectious medical conditions- which often contributes to delays in care-seeking, diagnosis, and management. Probably, the vice versa also holds true. India, being a high endemic zone for tuberculosis, the threshold to label an unexplained illness of more than 2 weeks as TB by Indian clinicians is quite low, often leading to missed or delayed diagnosis of the underlying disease. Immunoglobulin G4-related disease (IgG4-RD) is another such “mimicker” often underdiagnosed due to its varied clinical presentation and is erroneously treated with anti-tubercular drugs. The overlapping biochemical and imaging features of IgG4-RD make prospective diagnosis difficult without a high index of suspicion. The incidence reported in literature is 0.78 to 1.39 per 100,000 person-years, which is likely an underestimation of the disease. Here, we present two cases where patients suffering from IgG4-RD were initially diagnosed and treated as tuberculosis and we review the literature associated with IgG4-RD.

Plasma cell-free DNA chromatin immunoprecipitation profiling depicts phenotypic and clinical heterogeneity in advanced prostate cancer.

Cell phenotype underlies prostate cancer presentation and treatment resistance and can be regulated by epigenomic features. However, the osteotropic tendency of prostate cancer limits access to metastatic tissue, meaning most prior insights into prostate cancer chromatin biology are from preclinical models that do not fully represent disease complexity. Noninvasive chromatin immunoprecipitation of histones in plasma cell-free in humans may enable capture of disparate prostate cancer phenotypes. Here, we analyzed activating promoter- and enhancer-associated H3K4me2 from cfDNA in metastatic prostate cancer enriched for divergent patterns of metastasis and diverse clinical presentation. H3K4me2 density across prostate cancer genes, accessible chromatin, and lineage-defining transcription factor binding sites correlated strongly with circulating tumor DNA (ctDNA) fraction-demonstrating capture of prostate cancer-specific biology and informing the development of a statistical framework to adjust for ctDNA fraction. Chromatin hallmarks mirrored synchronously measured clinico-genomic features: bone versus liver-predominant disease, serum PSA, biopsy-confirmed histopathological subtype, and RB1 deletions convergently indicated phenotype segregation along an axis of differential androgen receptor activity and neuroendocrine identity. Detection of lineage switching after sequential progression on systemic therapy in select patients indicates potential utility for individualized resistance monitoring. Epigenomic footprints of metastasis-induced normal tissue destruction were evident in bulk cfDNA from two patients. Finally, a public epigenomic resource was generated using a distinct chromatin marker that has not been widely investigated in prostate cancer. These results provide insight into the adaptive molecular landscape of aggressive prostate cancer and endorse plasma cfDNA chromatin profiling as a biomarker source and biological discovery tool.

Genome Instability and Senescence Are Markers of Cornelia de Lange Syndrome Cells

Cornelia de Lange syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder. Pathogenic variants in genes encoding the structural subunits and regulatory proteins of the cohesin complex (NIPBL, SMC1A, SMC3, HDAC8, and RAD21) are the primary contributors to the pathogenesis of CdLS. Pathogenic variations in these genes disrupt normal cohesin function, leading to the syndrome’s diverse and complex clinical presentation. In this study, we discovered that cells harboring variants in the NIPBL, SMC1A and HDAC8 genes exhibit spontaneous genome instability, elevated oxidative stress and premature cellular aging. These findings suggest that cohesin plays a critical role in maintaining proper cellular function and highlight its contribution to the pathophysiology seen in the related diagnoses.

Adult Intussusception in Jordan: Demographics, Clinical Features, and Outcomes from a Tertiary Hospital.

BACKGROUND Adult intussusception (AI) is a rare condition with diverse clinical presentations and management challenges. Despite its rarity, understanding its epidemiology, clinical features, and predictive factors distinguishing benign and malignant lead points is crucial for effective management. This study aimed to assess the demographic and clinical characteristics of patients with pathological AI and examine factors associated with malignant lead points. MATERIAL AND METHODS Medical records of patients aged >18 years with diagnosis of AI between January 1, 2014, and January 1, 2024 were retrospectively analyzed. Patients were classified based on location and etiology of intussusception. Predictive factors for malignant lead points were assessed, including age, sex, presenting symptoms, location, and size of intussusception. Computed tomography (CT) scan images were reviewed for diagnosis confirmation. Transient small bowel intussusceptions and intussusceptions related to feeding tubes were excluded. RESULTS Twenty-six cases of pathological AI were identified over 10 years, with a male predominance (69.2%) and a mean age of 53.3 years. Abdominal pain was the most common presenting symptom (65.4%), with bowel obstruction diagnosed in 23.1% of cases. CT scans were the primary diagnostic modality (92.3%). Colocolic intussusceptions were most prevalent (53.8%), and surgical management was common (69.2%). Histopathological examination revealed benign lead points in the majority (57.7%) of cases, with lipomas and polyps being the most common. Bleeding per rectum was significantly associated with malignant lead points (P=0.011). CONCLUSIONS AI presents with diverse clinical features. It predominantly affects the colon. Bleeding per rectum indicates a higher likelihood of malignant lead points. A multidisciplinary approach is essential for optimal case-based management.

A Novel Approach to Diagnosis: Using Convolutional Neural Networks to Classify Non-Small Cell Lung Cancers on CT Scans

Background: Lung cancer is the leading cause of cancer-related deaths around the world, making early detection vital to treatment and survival. However, lung cancer has variable clinical presentations, so diagnosis, even by trained medical professionals, is challenging and time- consuming. Deep Learning (DL) has proven effective in training big data to generate accurate diagnoses through classification in a timely manner. Aim and Objective: This study uses data augmentation and hyperparameter optimization methods on convolutional neural networks (CNN) to understand the benefits of various architectures in addition to creating an accurate transfer-based tool for lung cancer diagnosis on CT scans. Materials and Methods: We found a dataset composed of chest CT images of patients with non-small cell lung cancers (NSCLC) categorized into adenocarcinoma, large cell carcinoma, and squamous cell carcinoma and a control group of normal chest CT scans. We tested the CNN architectures VGG16, InceptionV3, ResNet50, and EfficientNetB0 for feature extraction and observed each model on a variety of different metrics such as validation accuracy, statistical errors, and learning rate. Each model was trained on the prechosen data set 2 times at 6 and 12 epochs and several evaluation metrics were recorded. Observation and Results: EfficientNetB0, ResNet50, VGG16, InceptionV3 achieved test accuracies of 98.92%, 91.40%, 77.42%, 70.97% respectively when implemented with hyperparameter tuning and dropout layers. EfficientNetB0 also exceeded the other architectures in metrics such as precision, recall, and F1-score. Conclusion: Convolutional neural networks using EfficientNetB0 yielded a higher accuracy in diagnosis of non-small cell cancer on CT scan which encourages further research in developing robust diagnostic tools using DL to expedite diagnosis, especially in locations with inadequate healthcare resources.

Giant cell tumor of the tendon sheath: A critical review of current diagnostic and therapeutic approaches with treatment recommendations for hand and foot lesions

Giant cell tumor of the tendon sheath (GCTTS) is a common tumor affecting the hand and foot, often presenting diagnostic and therapeutic challenges due to its variable clinical presentations and biological behaviors. Recent evidence supports a neoplastic origin for this tumor, previously known by various names. GCTTS can be categorized as localized or diffuse, with distinct predilections for specific anatomical locations. While localized GCTTS is typically benign and more common in the hand and wrist, the diffuse form can be aggressive, also affecting the foot and ankle. This critical analysis review aims to provide a comprehensive overview of GCTTS in hand and foot, encompassing its clinical, radiological, histological, and genomic features. In addition, we summarize current management practices, discuss differential diagnoses, analyze recurrence rates following surgical excision, and offer evidence-based treatment recommendations for this diverse group of tumors.

Prevalence and characteristics of the Solitary Rectal Ulcer Syndrome among a Cohort of Iraqi Patients with Lower Gastrointestinal Bleeding.

Background: Solitary rectal ulcer syndrome (SRUS) is a benign, uncommon rectal disorder characterized by combination of symptoms, clinical findings, and histological abnormalities. It has wide range of presentations and variable endoscopic findings. Objectives: to study the prevalence of SRUS in patients presenting with lower gastrointestinal bleeding and to further evaluate this syndrome in the affected patients. Subjects and Methods: A retro-prospective descriptive study conducted in Basrah Gastroenterology and Hepatology Hospital involved revision of 350 colonoscopic reports performed for the period from January 2022–June 2023 for patients presented with bleeding per rectum. Fifteen patients fulfilled the diagnostic criteria of SRUS were reviewed and followed up. Results: the prevalence rate was 4.28%; nine male (60%), seven female (40%), mean age (22 ±9.3) years (12-45years). Mean duration of symptoms until diagnosis (8.22 ±4) weeks (3-17) weeks, females had shorter diagnosis time compared to males (5.5±2.3) (8.2±5.3) weeks respectively. The most frequent single associated symptom with the bleeding per rectum was constipation (96.3%), 20% had multiple associated symptoms. On endoscopic examination:11 (73.4%) had ulcerated lesions,4 (26.6%) non ulcer lesions [3(20%) had polypoidal lesion,1(6.6%) had only hyperemic mucosa] Majority of rectal lesions located anteriorly 13 (86.6%). At follow up; symptoms improved in 7 (46.6%), endoscopic improvement in 8 (53.3%) and histological improvement in 11(73.4%), 2(13.3%) underwent endoscopic treatment and 3(20%) ended with surgery. Conclusions: SRUS is chronic, benign disorder related to straining or abnormal defecation. It has variable clinical presentations and variable endoscopic findings rather than solitary ulcer as the name imply with different therapeutic options are available.

Diagnostic Efficacy of Multimodal Ultrasound for Mass and Non-Mass Enhancements in Dynamic Contrast-Enhanced MRI of Idiopathic Granulomatous Mastitis and Breast Cancer

PurposeIdiopathic granulomatous mastitis (IGM) poses diagnostic challenges due to its diverse clinical and radiological presentations, often mimicking malignancies. This study aimed to assess the diagnostic efficacy of multimodal ultrasound for mass and non-mass enhancements in Dynamic Contrast-Enhanced MRI (DCE-MRI) of IGM and breast cancer. MethodsA retrospective analysis involved patients confirmed histopathologically with IGM and BC. All patients underwent conventional ultrasound (C-US), ultrasound elastography (UE), contrast-enhanced ultrasound (CEUS), and DCE-MR examinations. Blind experienced radiologists assessed imaging findings. Diagnostic accuracy, sensitivity, and specificity were calculated for mass and non-mass enhancements. ResultsFor mass enhancements (ME), multimodal ultrasound demonstrated strong efficacy (AUC = 0.8651, 95% CI: 0.7431 to 0.9871), exhibiting high sensitivity (83.3%) and specificity (92.4%) in differentiating IGM from breast cancer. However, for non-mass enhancements (NME), multimodal ultrasound showed limited accuracy (AUC = 0.6306) with lower sensitivity (65.6%) and specificity (81.2%) in distinguishing between IGM and breast cancer. ConclusionMultimodal ultrasound displayed good diagnostic efficacy for mass enhancements in DCE-MRI for idiopathic granulomatous mastitis and breast cancer, while for non-mass enhancement patterns, DCE-MRI remains the most valuable radiological modality for comprehensively assessing this condition's complexities.

Comprehensive analysis of rheumatic diseases, comorbidities, and mortality in geriatric population: Real-world data of 515 patients in a single rheumatology clinic.

Rheumatic diseases present unique challenges in the elderly, with changes in the immune system contributing to varied clinical presentations. More individuals are now living with chronic diseases due to greater life expectancy, but there is a lack of real-world data about rheumatic diseases and comorbidities in older people. This study aimed to investigate disease types, comorbidities, treatments, and mortality in geriatric patients in comparison to non-geriatric patients at a rheumatology clinic. This retrospective observational cohort study reviewed the medical records of 2610 patients from January 2021 to January 2024 at 2 branches of a private hospital's rheumatology clinics. Demographic information and data on rheumatic diseases, noninflammatory conditions, treatments, comorbidities, and mortality were collected, and geriatric patients were compared to non-geriatric patients. Geriatric patients (n = 515) had a significantly higher prevalence of rheumatoid arthritis (50.6% vs 28.8%, P < .001), polymyalgia rheumatica (11.1% vs 0.2%, P < .001), and crystal arthritis (19.6% vs 8.8%, P < .001), with more frequent geriatric-onset cases. Osteoarthritis was also more prevalent in geriatric patients (51.2% vs 11.3%, P < .001), while fibromyalgia was more common in the non-geriatric group (15.9% vs 4.1%, P < .001). Geriatric patients experienced higher rates of comorbidities, including hypertension (72.4% vs 17.8%, P < .001), diabetes (33.6% vs 12.1%, P < .001), and osteoporosis (64.9% vs 35.4%, P < .001). These patients used more corticosteroids (74.5% vs 44%, P < .001), and conventional synthetic disease-modifying antirheumatic drugs (62.4% vs 49.4%, P < .001) but fewer biological disease-modifying antirheumatic drugs (9.2% vs 23.1%, P < .001). Mortality rates were significantly higher in geriatric patients (6% vs 0.3%), with cancer (P = .001), ischemic heart disease (P = .04), heart failure (P = .01), chronic kidney disease (P = .02), and interstitial lung disease (P = .01) being associated with increased mortality. Geriatric rheumatology should receive greater focus in future research to help address the anticipated increases in demand and to develop tailored management strategies for elderly patients with rheumatic diseases and comorbidities.

Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease

BackgroundThe clinical diagnosis of Fabry Disease (FD) can be challenging due to the clinical heterogeneity, especially in females. Patients with FD often experience a prolonged interval between the onset of symptoms and receiving a diagnosis. Genetic testing is the gold standard for precise diagnosis of FD, however conventional genetic testing could miss deep intronic variants and large deletions or duplications. Although next-generation sequencing, which analyzes numerous genes, has been successfully used for FD diagnosis and can detect complex variants, an effective and rapid tool for identifying a wide range of variants is imminent, contributing to decrease the diagnostic delay.MethodsThe comprehensive Analysis of FD (CAFD) assay was developed for FD genetic diagnosis, employing long-range PCR coupled with long-read sequencing to target the full-length GLA gene and its flanking regions. Its clinical performance was assessed through a comparative analysis with Sanger sequencing.ResultsGenetic testing was performed on 82 individuals, including 48 probands and 34 relatives. The CAFD assay additionally identified variants in two probands: one had a novel and de novo pathogenic variant with a 1715 bp insertion in intron 4, and the other carried two deep intronic VUS variants in cis-configuration also in intron 4. In total, CAFD identified 47 different variants among 48 probands. Of these, 42 (89.36%, 42/47) were pathogenic, while 5 (10.64%, 5/47) were VUS. Sixteen (34.04%, 16/47) of the variants were novel, including 15 SNV/Indels and one large intronic insertion. Pedigree analysis of 21 probands identified four de novo disease-causing variants. Hence, FD exhibits not only variable clinical presentations but also a wide spectrum of variants. Utilizing a comprehensive testing algorithm for diagnosing FD, which includes enzyme activity, clinical features, and genetic testing, the diagnostic yield of CAFD is 97.92% (47/48), which is higher than that of conventional Sanger sequencing, at 95.83% (46/48).ConclusionThe duration between initial clinical presentation and diagnosis remains long and winding. CAFD provides precise diagnosis for a wide spectrum of GLA variants, promoting timely diagnosis and appropriate treatment for FD patients.

Demographic, clinical and laboratory characteristics of extrapulmonary tuberculosis: Eight-year results of a multicenter retrospective study in Turkey.

Extrapulmonary tuberculosis (EPTB) is an important public health problem due to its diverse clinical presentations, diagnostic complexities, and significant impact on patient outcomes and public health. Our study aimed to understand the sociodemographic, clinical, and laboratory characteristics as well as diagnostic and treatment modalities of adult patients with EPTB. This is a multicentric retrospective study that covers patients with EPTB cases followed up from January 2015 to December 2022 among tuberculosis (TB) dispensaries and Infectious Diseases and Clinical Microbiology clinics of 15 hospitals located in various regions of Turkey. The study included 64.6% women with a mean age of 44 years and a mortality rate of 3.5% within 1 year of diagnosis. Initial constitutional symptoms were predominantly fatigue (57%) and anorexia (53.7%). The most commonly affected sites were the lymph nodes (49.1%) and pleura (9.7%). The lumbar region was particularly involved in cases with spinal TB. Diagnostic findings included acid-fast bacilli positivity in 27.5% of cases, tuberculosis polymerase chain reaction positivity in 41%, elevated adenosine deaminase levels in 91.2% (especially in pleural and peritoneal fluids), and mycobacterial culture positivity in 40.9%. Pathology slides showed granulomatous inflammation in 97.7%. Increased C-reactive protein (CRP) levels correlated with the number of organs affected. Anti-TB treatment-related hepatotoxicity was detected in 8.9% of patients. In this study, it is important to note that the lumbar region is predominantly affected with involvement in spinal region. CRP level was consistent with the number of organ involvements and was one of the most critical results of this study.

Klinefelter Mosaicism 46, XX/47, XXY with Ovotestis- DSD

Klinefelter syndrome is a relatively common chromosomal condition affecting approximately 1 in 500-1,000 males. 46, XX /47 XXY Klinefelter Syndrome mosaicism is rare enough, resulting in a few cases described in literature. Variable phenotypes and clinical presentations such as gynecomastia, infertility, cryptorchidism, and disorders of sexual development (DSD) are associated with this karyotype presentation. The association of Klinefelter syndrome mosaicism 46 XX/47 XXY and OT DSD is a rare feature. We report the case of a 34-year-old man who presented for semen analysis and karyotyping in our unit. The patient had bilateral gynecomastia and absence of facial hair. Penile length was 4,5 cm with an external meatus located on the posterior face of the phallus, characterizing a posterior hypospadias. Testis was palpable in the right hemiscrotum, but the left hemiscrotum was empty. Ultrasonography revealed the presence of the left gonad located in the left iliac fossa, while the right gonad in the scrotum had testicular morphology according to ultrasound exam. Chromosomal analysis revealed 46, XX/47, XXY mosaicism, and semen analysis an azoospermia. Our patient underwent surgery because of the risk of malignancy, and histopathologic examination of the left excised gonad confirmed the structure to be an ovotestis. The biopsy of the right gonad, realized for eventual cryopreservation, revealed atrophic seminiferous tubules and a pseudo tumoral aspect of Leydig cells with hyperplasia without atypia. Personalized approach and multidisciplinary care are needed to get a diagnosis, resolve sex reassignment, and improve the quality of life of the patient. In that feature, the percentage of XX cells could play a role on phenotype, particularly on Müllerrian structure persistence, but also on a relative increased risk of malignancy degenerescence compared to other cases of OT-DSD.

Use of intravenous immunoglobulin for the treatment of severe COVID‐19 in the Chris Hani Baragwanath Academic Hospital intensive care unit, Johannesburg, South Africa

Background. COVID‐19 infection has a variable clinical presentation, with a small subgroup of patients developing severe disease, requiring intensive care with mechanical ventilation, with an increased mortality rate. South Africa (SA) has experienced multiple waves of this pandemic, spanning the pre‐vaccine and vaccine periods. The method and initiation of treatment is a debated topic, changing according to evolving research and the literature. The present study investigated the use of high‐dose intravenous immunoglobulin (IVIg) as a salvage therapy after initial medical treatment failure. Objectives. To compare disease progression among critically ill COVID‐19 pneumonia patients receiving IVIg therapy with that in patients receiving standard of care (SoC), in respect of inflammation, organ dysfunction and oxygenation. Methods. This was a single‐centre, retrospective study of patients admitted to the intensive care unit (ICU) at Chris Hani Baragwanath Academic Hospital, Johannesburg, SA, during the pre‐vaccine COVID‐19 pandemic. Demographics, inflammatory markers (C‐reactive protein (CRP)), organ function (Sequential Organ Failure Assessment (SOFA) score), oxygenation (ratio of partial pressure of oxygen in arterial blood to fraction of inspiratory oxygen (P/F ratio)), overall mortality and complications (nosocomial infections and thromboembolism) were recorded and compared. Results. We included 113 eligible patients in the study. The IVIg cohort had a significantly lower initial P/F ratio than the SoC cohort (p=0.01), but the change in P/F ratio was similar (p=0.54). Initial CRP and changes in CRP were similar in the two groups (p=0.38 and p=0.75, respectively), as were initial SOFA score and changes in SOFA score (p=0.18 and p=0.08, respectively) and vasopressor dose on day 0 and day 5 (p=0.97 and p=0.93, respectively). Duration of mechanical ventilation did not differ significantly between the IVIg group and the SoC group (p=0.13). There were no significant differences in measured complications between the two groups. On univariate analysis, the relative risk of death was 1.6 times higher (95% confidence interval (CI) 1.1 ‐ 2.3) in the IVIg group; however, a logistical regression model demonstrated that only a higher P/F ratio (odds ratio (OR) 0.991; 95% CI 0.983 ‐ 0.997) and higher mean airway pressure (OR 1.283; 95% CI 1.026 ‐ 1.604) were significantly associated with ICU mortality. Conclusion. Use of IVIg in our study was directed at an older population, with significantly worse oxygenation. We found no evidence of adverse effects of immunoglobulin therapy; however, we found no benefit either. Only the P/F ratio and mean airway pressure independently predicted ICU mortality.

Siblings with nemaline myopathy: a case of rare genetic mutation

Nemaline myopathy (NM) is a rare, congenital myopathy with varied clinical presentation. This case report talks about varied manifestation of this condition among siblings from same couple with a rare specific mutation at molecular level among the known mutations reported for NM. The subsequently mentioned patient had severe respiratory distress and recurrent respiratory tract infections since infant, which led to meticulous investigations and relevant family history charting. Such methods proved to be fruitful for suspecting and subsequently led to successful diagnosis of NM in the patient and aforementioned siblings. The diagnosis of NM was made with proper genetic testing, and patient was put on ventilatory support and appropriate physiotherapy for muscle weakness. Lower respiratory tract infections were treated with appropriate antibiotics and medications as and when required. To conclude this case report, advising adequate pre-conceptional genetic counselling to the couple having affected siblings with dire outcomes, which helps avoid the psychological, financial and medical demands of managing such conditions.

Neuroimaging Spectrum of Erdheim-Chester Disease: An Image-based Review.

Erdheim-Chester Disease (ECD) is a rare, multisystem histiocytic disorder characterized by its variable clinical presentations. Central Nervous System (CNS) involvement is observed in approximately half of ECD patients (up to 76% in some series), and often carries a poorer prognosis. While CNS involvement may remain asymptomatic, others may experience a range of neurological symptoms, including cognitive decline, neuropsychiatric disturbances, motor deficits, cranial or peripheral neuropathies, and endocrine abnormalities.Neuroimaging findings in CNS-ECD are diverse, including neurodegeneration manifesting as cerebral or cerebellar volume loss, solitary or multifocal variably enhancing intraparenchymal lesions along the neuroaxis, meningeal infiltration, involvement of the Hypothalamo-pituitary axis, perivascular sheathing or basal ganglia lesions. Other well documented sites of involvement include the craniofacial region, orbits and spine. Awareness of these findings is relevant, not only because of the non-specific nature of these findings, but also given the high proportion of CNS involvement in ECD as well as the higher mortality associated with CNS involvement.This review provides an in-depth overview of the various manifestations of CNS involvement in ECD and their imaging features, along with a brief overview of the differential considerations which include other histiocytic and non-histiocytic processes.ABBREVIATIONS: ECD＝Erdheim-Chester Disease; RDD＝Rosai-Dorfman Disease; LCH= Langerhans cell histiocytosis.

Occipital neuralgia as an initial manifestation of atypical Lemierre syndrome: A case report.

Lemierre syndrome is a life-threatening but treatable septic thrombosis of the internal jugular vein (IJV) derived from a craniocervical bacterial infection. Metastatic septic embolization is common. However, diagnostic delay and poor prognosis remain a problem, largely due to the diverse clinical presentations and unclear symptomatology of Lemierre syndrome. In contrast, occipital neuralgia is a common disease typically treated with symptomatic therapy in emergency settings, as most cases are not life-threatening. The present case involved a 70-year-old female with Lemierre syndrome stemming from Streptococcus anginosus infection originating in sinusitis or periodontitis. The onset was characterized by headache with typical occipital neuralgia, a severe trigger point in the posterior neck ipsilateral to the infected IJV, and reduced sensation of the C2 nerve root area. Given the anatomical relationship of the cranial venous emissary system into the posterior cervical venous plexus, the case highlights the potential for the neighboring occipital nerve to be directly involved in Lemierre syndrome. Interestingly, despite Lemierre syndrome typically arising from pharyngeal bacterial infections and infected IJV located in the "anterior" neck, many prior case reports have described "occipital" or "posterior" pain at the head or neck. History taking and physical examination remain essential to identify the causes of these posterior/occipital symptoms, since imaging investigations, as in this case, often fail to identify them. Early recognition of occipital neuralgia as a potential initial symptom of Lemierre syndrome could lead to earlier diagnosis and treatment, potentially improving patient outcomes.

Anifrolumab Study for Treatment Effectiveness in the Real World (ASTER) among patients with systemic lupus erythematosus: protocol for an international observational effectiveness study

IntroductionSystemic lupus erythematosus (SLE) is a chronic autoimmune disease with a diverse clinical presentation that involves multiple organ systems and may lead to organ damage and increased risk of mortality....

A neuropsychiatric systemic lupus erythematosus presenting with acute confusional state: a case report

Systemic lupus erythematosus (SLE) is a chronic multisystem autoimmune disease characterized by variable clinical symptoms. It disproportionately affects African-American women and women from other ethnic groups. The complexity of SLE, stemming from its genetic and phenotypic diversity, poses challenges in diagnosis, treatment, and development of novel therapies. Neuropsychiatric systemic lupus erythematosus (NPSLE) encompasses a spectrum of neurological syndromes involving the central, peripheral, and autonomic nervous systems, as well as psychiatric syndromes diagnosed in SLE patients after ruling out other causes. Neuropsychiatric manifestations typically emerge in the later stages of SLE (10–75%). The acute onset of neuropsychiatric symptoms as the primary presentation of NPSLE is exceptionally rare and can be diagnostically elusive when other organs are unaffected. In this article, we present the case of a 53-year-old woman who was admitted to the hospital due to disorientation and an acute confusional state. Following the diagnosis of NPSLE, she received treatment consisting of three doses of pulse corticosteroids and one dose of cyclophosphamide. She exhibited a favorable clinical response, leading to partial resolution of her symptoms and subsequent discharge from the hospital. Practical Implications. Due to the rarity and diverse clinical presentations of NPSLE, particularly with the sudden onset of neuropsychiatric symptoms, there is a significant risk of delayed or incorrect diagnosis, which can lead to ineffective treatment. Therefore, maintaining a high index of clinical suspicion is paramount for achieving early and accurate diagnosis, which is crucial for initiating timely and effective treatment strategies.

Isolation and identification of bacterial pathogens associated with foodborne illnesses in stool samples: A prospective study

Introduction: Foodborne illnesses significantly impact public health, necessitating the isolation and identification of bacterial pathogens such as Salmonella, Escherichia coli, and Staphylococcus aureus. This study aims to isolate and identify bacteria from stool samples of individuals exhibiting food poisoning symptoms, enhancing understanding and prevention of these infections. Methods: This prospective study, conducted at GSL Medical College from August to September 2021, involved individuals over 18 years with food poisoning symptoms. Stool samples were collected, cultured on selective media, and analyzed for bacterial identification using Gram staining and biochemical tests, followed by statistical analysis of prevalence and symptoms. Results: The study included 100 participants, with 52% male and a majority (40%) aged 31–45 years. Abdominal pain (80%) and diarrhea (75%) were the most common symptoms. The predominant isolates were E. coli (30%) and Salmonella spp. (25%), with symptom correlations revealing distinct clinical presentations among the pathogens. Conclusion: This study underscores the significant role of pathogens in foodborne illnesses, particularly E. coli and Salmonella spp. The correlation between these pathogens and symptoms highlights diverse clinical presentations, emphasizing the need for effective food safety measures and public health interventions to mitigate the impact of foodborne infections on community health.

Chest pain and coronary artery disease in cardiac amyloidosis: Prevalence, mechanisms, and clinical implications.

Amyloidosis is a systemic disease affecting multiple organs, and often presents with cardiac involvement, with two primary underlying pathologies: amyloid light chain- and transthyretin cardiac amyloidosis. Chest pain can occur in both types with variable clinical presentations. This narrative review describes the relationship between CA and chest pain. A PubMed search (June 03. 2024) identified 393 articles related to chest pain in CA. Twenty-eight studies, in English and with full text, were selected. Articles included were case reports, reviews, perfusion- and autopsy studies. In CA patients 10-20% report chest pain as the initial symptom preceding the diagnosis, and the overall prevalence of chest pain is 38% of patients with CA and it is related to an increased risk of heart failure hospitalization. The mechanisms leading to chest pain in CA patients include increased left ventricular diastolic pressure, infiltration of amyloid fibrils inside and around coronary arteries, and amyloid compression of the microvasculature. The mechanisms commonly lead to elevations of plasma troponin levels, which are higher in amyloid patients with chest pain compared to amyloid patients without chest pain. Symptomatic treatment of chest pain can be challenging due to the low tolerability of medical therapy and poor outcomes of coronary interventions in alleviating the pain and with a higher rate of complications. Our review underscores the importance of recognizing chest pain as a CA symptom, particularly in the elderly. Persistent troponin elevation without coronary artery disease could indicate CA. Screening-based and longitudinal studies are crucial for understanding the relationship between chest pain and CA. Acknowledging the significance of chest pain in CA may facilitate early intervention and improve patient outcomes.