Variable Clinical Presentation Research Articles

Proposed Algorithm for the Diagnosis and Management of Functional Dyspepsia in India.

Disorders of gut-brain interaction (DGBI), formerly known as functional bowel disorders, encompass a diverse array of conditions and symptoms that may manifest in different parts of the gastrointestinal tract. Some of the most prevalent DGBIs include functional dyspepsia, irritable bowel syndrome, functional constipation, functional diarrhea, and functional bloating and distension. Around 80% of patients with dyspepsia have no identifiable organic cause and are labeled as functional dyspepsia. Globally, functional dyspepsia prevalence ranges from 11 to 30%. In India, physicians encounter 20-40% of patients with functional dyspepsia, with variations attributed to diagnostic criteria and regions. However, Indian clinical guidelines for functional dyspepsia are currently lacking. Fifty gastroenterologists participated in focus group discussions to create an India-specific algorithm for the diagnosis and management of functional dyspepsia. After several national and regional discussions among groups of gastroenterologists across India, an algorithm was finalized for careful and thorough clinical evaluation of patients presenting with chronic dyspeptic symptoms. This guidance document highlights the role of endoscopic evaluation and Helicobacter pylori infection in the diagnosis of functional dyspepsia, along with the role of proton pump inhibitors (PPIs) and prokinetics in its treatment. The experts also reviewed the use of several prokinetics and provided their views on the choice of drugs for varied clinical presentations of functional dyspepsia. Among prokinetics, the experts believed that itopride was the preferred and relatively safer option for the treatment of functional dyspepsia.

Evolving Landscape of Sickle Cell Anemia Management in Africa: A Critical Review.

Sickle cell disease (SCD) is a prevalent inherited blood disorder, particularly affecting populations in Africa. This review examined the disease's burden, its diverse clinical presentations, and the challenges associated with its management in African settings. Africa bears a significant burden of SCD, with prevalence varying across countries and age groups. Newborn screening programs have highlighted the high prevalence of SCD at birth, emphasizing the need for early diagnosis and intervention. The clinical manifestations of SCD in Africa are multifaceted, encompassing acute complications like vaso-occlusive crises, acute chest syndrome, and stroke, as well as chronic complications such as organ damage and leg ulcers. Biological factors, including fetal hemoglobin levels, and demographic factors, like age and sex, influence disease severity and outcomes. The management of SCD in Africa faces numerous challenges. Limited access to resources, including diagnostic tools, medications, and trained healthcare professionals, hinders optimal care. The high cost of advanced therapies further restricts patient access. Cultural stigma and a lack of awareness create additional barriers to effective management. To address these challenges, early diagnosis through newborn screening programs and point-of-care testing is crucial. Comprehensive care models, including hydroxyurea therapy, pain management, and patient education, are essential for improving outcomes. Collaboration with international networks and leveraging local resources can enhance the sustainability of SCD programs. In conclusion, SCD significantly impacts African populations. Overcoming the challenges associated with its management requires addressing resource limitations, affordability issues, and cultural barriers. Early diagnosis, comprehensive care models, and ongoing research focused on affordability and accessibility are crucial for improving the lives of individuals living with SCD in Africa.

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.

A Rare Case of Primary Vulvar Diffuse Large B-Cell Lymphoma: A Case Report.

Primary vulvar diffuse large B-cell lymphoma is a diagnostically challenging malignant tumor due to its low incidence and diverse clinical presentations. It has a good prognosis and is usually radio-chemotherapy-responsive. This case report emphasizes considering lymphoma as a differential in vulvar inflammatory conditions.

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.

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. 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. 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. 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. 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. During the COVID-19 pandemic, treatment protocols changed in response to the evolving literature. Hospitals were faced with choosing a treatment modality that they believed at the time had benefit. Chris Hani Baragwanath Hospital in Johannesburg, South Africa (SA), incorporated IVIg into its treatment protocols for patients with severe COVID pneumonia requiring ICU admission. This study retrospectively analysed the use of IVIg therapy in the hope of creating a more robust understanding of its safety and efficacy as a treatment option for SA patients in the future.

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.

Etiology and Clinical Profile of Pediatric Acquired Demyelination Syndromes of the Central Nervous System: An Ambispective Longitudinal Study from South India

Background Pediatric acquired demyelinating disorders (pADS) are diverse disorders with varied clinical presentations and literature regarding them is far and few. Materials and methods This ambispective study included 46 children with pADS who presented between 2016 and 2021 to our institution. Results The most common form was acute demyelinating encephalomyelitis (ADEM) (41.3%). The most common symptom was limb weakness (45.6%). During follow-up, regression of milestones was observed in 3(7.5%) children, and seizures were seen in 4(10%) children. Except for two children, all others could perform activities of daily living. Residual weakness was seen in six children. Recurrence of pADS was seen in five children. Conclusion ADEM was the most common pADS, and 20% had residual deficits. Though mortality is rare in these groups of conditions, morbidity is significantly high, which can be reduced with proper and early treatment with immunosuppressants.

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....

Frequency of ischemic cardiac events in patients receiving long-term multikinase inhibitor: A report of three cases

ObjectiveTo investigate the incidence and characteristics of ischemic cardiac events, specifically major adverse cardiac events (MACE), in patients undergoing long-term treatment with multikinase inhibitors (MKIs) such as lenvatinib and sorafenib. MethodsA single-center retrospective analysis was conducted on 41 patients treated with lenvatinib or sorafenib for more than one year at our institution from 2015 to 2022. Patient records were reviewed to collect data on demographics, cancer type, cardiovascular risk factors, MKI treatment duration, and MACE incidence. MACE events, defined as acute heart failure, fatal arrhythmia, acute myocardial infarction, and coronary revascularization, were analyzed to determine potential correlations with MKI therapy. ResultsAmong the 41 patients, three (7.3%) developed MACE, presenting as acute heart failure, fatal arrhythmia, and acute myocardial infarction, all associated with significant coronary artery stenosis. Notably, none of these patients had a prior history of cardiovascular disease. Despite variations in clinical presentation, all cases suggested a link between long-term MKI administration and accelerated coronary atherosclerosis. Factors involved in atherosclerosis were significantly older and tended to be more hypertensive in the non-MACE group. ConclusionsLong-term MKI therapy may increase the risk of severe ischemic cardiac events, likely due to accelerated atherosclerosis. Clinicians and oncology nurses should monitor patients closely for early signs of angina, especially in an outpatient setting, to prevent acute cardiac events. Further large-scale studies are warranted to establish a clearer causal relationship between MKI therapy and cardiovascular risks.

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.

Pancreatic Morphology, Immunology, and the Pathogenesis of Acute Pancreatitis.

Acute pancreatitis is a complex inflammatory disorder with significant morbidity and mortality. This review aims to integrate the current knowledge of pancreatic morphology and immunology with the pathogenesis of acute pancreatitis, providing a comprehensive understanding of this critical condition. We conducted an extensive literature review, synthesizing data from recent studies and authoritative sources on pancreatic anatomy, histology, immunology, and the pathophysiology of acute pancreatitis. We also incorporated epidemiological data, clinical features, diagnostic criteria, and prognostic factors. The pancreas exhibits a complex morphology with intricate interactions between its exocrine and endocrine components. Its unique immunological landscape plays a crucial role in maintaining homeostasis and orchestrating responses to pathological conditions. In acute pancreatitis, the disruption of intracellular calcium signaling leads to premature enzyme activation, triggering a cascade of events including mitochondrial dysfunction, ATP depletion, and the release of proinflammatory mediators. This process can escalate from localized inflammation to systemic complications. The interplay between pancreatic morphology, immune responses, and pathophysiological mechanisms contributes to the varied clinical presentations and outcomes observed in acute pancreatitis. Understanding the intricate relationships between pancreatic morphology, immunology, and the pathogenesis of acute pancreatitis is crucial for developing more effective diagnostic and therapeutic strategies. This integrated approach provides new insights into the complex nature of acute pancreatitis and may guide future research directions in pancreatic disorders.

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.

Gait assessment in the initial evaluation of posterior circulation stroke

ObjectivesPosterior circulation stroke (PCS) presents diagnostic challenges due to its diverse clinical presentations. Timely detection is crucial, yet a highly sensitive, non-invasive screening tool for PCS is lacking. This study explores gait assessment as a readily accessible diagnostic tool for ruling out PCS in acutely vertiginous patients. Materials and methodsIn this retrospective case-control study, we examined medical records of 311 acutely vertiginous patients from the Get with the Guidelines Database at an academic hospital in New York City. Of these, 40 were diagnosed with PCS and 271 did not have PCS based on imaging and clinical criteria. We used multivariable logistic regression models and ROC curves to evaluate the association between objective gait abnormality (OGA) and PCS. ResultsObjective gait abnormality (OGA) was observed in 38/40 (95 %) posterior circulation stroke (PCS) cases and 57/271 (21 %) controls (adjusted odds ratio 144, 95 %CI 24.4-855, p < 0.0001). In a predictive model, objective gait abnormality (OGA) exhibited excellent discrimination between cases and controls (AUC 0.9599, sensitivity 95.0 %, specificity 75.6 %, positive predictive value 36.5 %, negative predictive value 99.0 %). ConclusionsGait assessment emerges as a highly-sensitive screening tool for ruling out posterior circulation stroke (PCS) in acutely vertiginous patients, enabling more efficient triage and patient management. Further prospective research is warranted to validate these findings in larger and more diverse patient populations.

Early Diagnostic Prediction of Infective Endocarditis: Development and Validation of EndoPredict-Dx.

Infective endocarditis is a life-threatening disease with diverse clinical presentations, making diagnosis challenging and requiring a range of complementary tests. The level of suspicion, based on clinical judgment, guides decisions regarding the initiation of empirical treatment and the selection of appropriate diagnostic tools. This study aimed to develop and validate the EndoPredict-Dx score for early prediction of infective endocarditis diagnosis. Patients admitted to a specialized cardiovascular hospital emergency department with suspected infective endocarditis between January 2011 and January 2020 were included. The primary outcome was left-sided infective endocarditis according to the Duke criteria. Logistic regression was used to derive the scoring system, with internal validation performed through bootstrapping. Candidate variables were obtained from the admission medical history, physical examination, and laboratory parameters. Of the 805 individuals with suspected infective endocarditis (median age 56 years (40-73); 58.6% men), 530 confirmed the diagnosis based on the Duke criteria. The EndoPredict-Dx assigned points for male sex, previous endocarditis, petechiae, heart murmur, suspected embolism, symptoms lasting 14 or more days at the time of admission, hemoglobin level ≤ 12 g/dL, leukocyte level ≥ 10 × 109/L, C-reactive protein level ≥ 20 mg/L, and urine red blood cells ≥ 20,000 cells/mL. Patients were divided into three risk groups. The AUROC was 0.78 (95% CI 0.75-0.81) for the derivation cohort and 0.77 for the internal validation. The EndoPredict-Dx score accurately predicted the likelihood of infective endocarditis using clinical and laboratory data collected at admission.

Practical Concepts and strategies for early diagnosis and management of eosinophilic gastrointestinal disorders in East-Asian children.

Eosinophilic gastrointestinal disorders (EGIDs) are emerging as significant concerns in the Korean pediatric population and transitioning from rare to more commonly diagnosed conditions. This review discusses the increasing prevalence of EGID among children and adolescents and highlights the complexities involved in its diagnosis and management. This review begins with a thorough examination of the diverse clinical presentations of EGIDs in Korean children, with a special focus on common gastrointestinal symptoms such as abdominal pain, diarrhea, and bloody stool. Additionally, we explored extraintestinal manifestations, including growth failure, malnutrition, and associated allergic comorbidities, highlighting their importance in the clinical landscape of EGIDs. Because of its subtle and overlapping symptoms with those of other gastrointestinal disorders, EGID is frequently underdiagnosed. Addressing this challenge requires maintaining a high index of suspicion and employing a comprehensive diagnostic approach to differentiating EGID from functional gastrointestinal disorders (FGIDs) and other inflammatory or systemic diseases such as inflammatory bowel disease. The optimal management of EGID requires a collaborative multidisciplinary strategy that includes dietary management, regular monitoring, and tailored medical interventions. This review emphasizes the importance of proactive patient and caregiver education and regular follow-ups to improve long-term outcomes in affected children. Enhanced awareness among healthcare providers and better educational resources for families are critical for the early identification and effective management of EGID among pediatric patients.