Variable Clinical Presentation Research Articles

The inability to belch: a neglected disease in the era of high-resolution esophageal manometry.

Retrograde upper esophageal sphincter dysfunction (R-UESD) is characterized by the inability to belch. Evidence of using high-resolution manometry (HRM) in diagnosing R-UESD has emerged in recent years. We describe the clinical picture and HRM patterns of two patients with R-UESD. Case 1: A 23-year-old female presented with a two-year complaint of inability to belch. We performed HRM with a belch provocation test for which the patient drank 500 ml of carbonated water. The study revealed increased esophageal pressure, an absence of UES relaxation and secondary peristalsis once the patient mentioned the need to belch. Case 2: A 21-year-old male presented to our medical office with a history of an incapacity to belch during the last three years. We performed HRM with a belch provocation test. During the study, he reported an incapacity to belch and his symptoms coincided with increased esophageal pressure, an absence of UES relaxation, and secondary peristalsis. Retrograde upper esophageal sphincter dysfunction is a rare condition characterized by a lack of UES relaxation during esophageal distension. The incapacity to belch is the hallmark of the disease. We encourage the use of HRM, looking for an increase in esophageal pressure to the level of gastric pressure, failure of UES relaxation with consequently no venting of air across the UES, and secondary peristalsis. In conclusion, diverse R-UESD clinical presentations represent a diagnostic challenge for physicians. This case series highlights the need to actively search for typical HRM findings when encountering patients referring an incapacity to belch.

It is Not a Curse! It is Neurofibromatosis 1 (NF1): A Case Report from Rural Kenya

Neurofibromatosis 1 (NF1) is an autosomal dominant genetic disorder caused by mutations in the NF1 gene, with near complete penetrance and variable clinical presentation. Patients classically have café-au-lait macules, neurofibromas, skin freckles, and Lisch nodules, among other multisystemic features. Long-term management in a multidisciplinary team focuses on surveillance and treating complications. NF1 is a rare disease in Kenya, often leading to myths and misconceptions about its nature, especially among rural communities. We present a classical case from rural Kenya whose diagnosis was delayed by a belief that it was the result of a curse. We aim to highlight the importance of making this diagnosis and its linkage to a long-term care plan within a primary health care setting.

A rare case of aortitis presenting as chest pain: a case report and literature review

A rare case of aortitis presenting as chest pain: a case report and literature review

Inflammatory myofibroblastic tumor of urinary bladder in young male: A case report and literature review

The objective of this study is to present a rare case of inflammatory myofibroblastic tumor (IMT) of the urinary bladder in young male, detailing its clinical presentation, diagnostic approach, treatment strategy, and outcome. Additionally, the objective includes conducting a literature review to provide insights into the characteristics, management, and prognosis of this uncommon tumor entity.A 20-year-old male presenting with dysuria and dribbling of urine underwent diagnostic workup including imaging studies, cystoscopy. On cystoscopy there was a presence of 5x4 cm sized pedunculated mass in the urinary bladder. Partial cystectomy is done and specimen is examined for histopathology. Histopathological examination and Immunohistochemistry study of the tumor specimen was performed to confirm the diagnosis of inflammatory myofibroblastic tumor. A thorough literature review was conducted to gather relevant studies on IMT of the urinary bladder, focusing on clinical presentations, diagnostic modalities, treatment approaches, and outcomes. Diagnostic evaluation revealed a mass lesion in the urinary bladder, and histopathological examination following partial cystectomy confirmed the diagnosis of inflammatory myofibroblastic tumor. The patient underwent surgical excision of the tumor followed by adjuvant therapy. Regular follow-up examinations showed no evidence of tumor recurrence. The literature review identified a limited number of reported cases of IMT of the urinary bladder in young male, emphasizing its rarity and diverse clinical presentations. Various diagnostic modalities and treatment options, including surgery, chemotherapy, and targeted therapy, were discussed in the reviewed literature. Inflammatory myofibroblastic tumor of the urinary bladder is a rare neoplasm at younger age that can present with nonspecific symptoms, making its diagnosis challenging. However, timely recognition and appropriate management, including surgical resection and adjuvant therapy, can lead to favorable outcomes with low recurrence rates. This case report highlights the importance of considering IMT in the differential diagnosis of bladder masses in young patient and underscores the need for further research to better understand the pathogenesis and optimal treatment strategies for this rare tumor entity.

Quadricuspid Aortic Valve: Two Asymptomatic Cases of Rare Anomaly

Quadricuspid aortic valve (QAV) is a rare congenital anomaly with <200 cases reported to date. Most patients are asymptomatic. Symptoms depend on the functionality of the valve and associated heart defects, most often presenting as aortic regurgitation followed by aortic stenosis. Management guidelines are ill-defined. We present two cases of QAV with rare associations (ventricular septal defect) and variable clinical presentation.

Expanding Clinical Spectrum of Anti-GQ1b Antibody Syndrome: A Review.

The discovery of the anti-GQ1b antibody has expanded the nosology of classic Miller Fisher syndrome to include Bickerstaff brainstem encephalitis, Guillain-Barré syndrome with ophthalmoplegia, and acute ophthalmoplegia without ataxia, which have been brought under the umbrella term anti-GQ1b antibody syndrome. It seems timely to define the phenotypes of anti-GQ1b antibody syndrome for the proper diagnosis of this syndrome with diverse clinical presentations. This review summarizes these syndromes and introduces recently identified subtypes. Although ophthalmoplegia is a hallmark of anti-GQ1b antibody syndrome, recent studies have identified this antibody in patients with acute vestibular syndrome, optic neuropathy with disc swelling, and acute sensory ataxic neuropathy of atypical presentation. Ophthalmoplegia associated with anti-GQ1b antibody positivity is complete in more than half of the patients but may be monocular or comitant. The prognosis is mostly favorable; however, approximately 14% of patients experience relapse. Anti-GQ1b antibody syndrome may present diverse neurological manifestations, including ophthalmoplegia, ataxia, areflexia, central or peripheral vestibulopathy, and optic neuropathy. Understanding the wide clinical spectrum may aid in the differentiation and management of immune-mediated neuropathies with multiple presentations.

Variable Clinical Presentations and Renal Outcome in Neonates With Autosomal Recessive Polycystic Kidney Disease

Variable Clinical Presentations and Renal Outcome in Neonates With Autosomal Recessive Polycystic Kidney Disease

Lupus Journey: The Challenge of Obstructıve Hydrocephalus

Systemic lupus erythematosus (SLE) is a complex autoimmune condition known for its diverse clinical presentations. Neuropsychiatric SLE refers to neurological or psychiatric symptoms that arise once other potential causes have been ruled out. While hydrocephalus occurring in the context of SLE is exceedingly rare and its underlying mechanism remains elusive, its recognition is crucial for informed management decisions. A 20-year-old female patient, diagnosed with SLE, had been under our rheumatology clinic's care for two years. She recently presented with confusion, which emerged a year after her initial diagnosis. Brain tomography revealed obstructive hydrocephalus, and subsequent investigations ruled out other potential causes, linking the condition to her clinical SLE. After consulting with a neurosurgeon, a ventricular drainage catheter was inserted. In response to this hydrocephalus development, a regimen of pulse steroid therapy was administered. Following this, mycophenolate mofetil was prescribed as an immunosuppressant agent and her clinical condition was successfully stabilized.

Ralstonia mannitolilytica Infections: A Systematic Review of Case Reports Unveiling Clinical Patterns and Therapeutic Insights.

Ralstonia mannitolilytica is an emerging opportunistic pathogen that has been increasingly reported in clinical settings. Despite its low pathogenicity in immunocompetent individuals, it poses a significant threat to immunocompromised patients, particularly those with underlying medical conditions or invasive medical interventions. This study aimed to evaluate the clinical impact and management strategies based on the analysis of individual case reports on Ralstonia mannitolilytica . A comprehensive search of PubMed was conducted from inception until July 31, 2023, using the terms "Ralstonia mannitolilytica" and/or "Pseudomonas thomasii". Inclusion criteria for our systematic review included human-centered case reports of Ralstonia mannitolilytica infections, excluding case series and review articles. Data extraction followed PRISMA guidelines, including study details and patient characteristics. Case reports were systematically assessed using the JBI critical appraisal checklist, evaluating patient demographics, clinical history, diagnostic methods, interventions, post-intervention outcomes, adverse events, and lessons learned to minimize bias risk. A total of 17 case reports of Ralstonia mannitolilytica infections were included in our systematic review. Studies published from 2001 to 2023 revealed diverse global contributions, with 29.41% from China. Infection origins varied, with catheter-related cases being predominant. Mortality was reported in two studies. Antibiotic sensitivity analysis showed sensitivity to third-generation cephalosporins, notably Ceftazidime. Quality appraisal revealed that all studies had a low risk of bias, ensuring the overall robustness of the case reports. This study emphasizes the importance of understanding Ralstonia mannitolilytica infections, given their varied clinical presentations and antibiotic responses. The study also underscores the necessity for precise identification, customized treatments, and ongoing research to manage these infections effectively.

Syphilitic Uveitis With Diverse Clinical Presentations: Multimodal Imaging as a Useful Adjunctive Tool for Diagnosis and Treatment

Syphilitic Uveitis With Diverse Clinical Presentations: Multimodal Imaging as a Useful Adjunctive Tool for Diagnosis and Treatment

Multiple endocrine neoplasia type 1: diverse clinical presentations and diagnostic challenges

Multiple endocrine neoplasia type 1: diverse clinical presentations and diagnostic challenges

A Case Series of Imaging Nuances of Persistent Craniopharyngeal Canal – Connecting the Pharynx to Brain!

A Case Series of Imaging Nuances of Persistent Craniopharyngeal Canal – Connecting the Pharynx to Brain!

“Amyand’s Hernia - A Case of Right Inguinoscrotal Hernia with Appendiceal Content ”

Introduction: Amyand’s hernia, a rare condition where the appendix becomes lodged in the inguinal canal, poses diagnostic challenges due to its varied clinical presentations and lack of distinctive radiological features. This case underscores the importance of early detection and comprehensive diagnostic evaluation. Case Presentation: A 30-year-old male presented with a two-year history of right inguinoscrotal swelling, culminating in agonizing symptoms and irreducible masses over the inguinoscrotal area. Despite the absence of significant medical history, diagnostic imaging confirmed a complete right inguinoscrotal hernia and bilateral hydrocele with internal echoes. Clinical Discussion: The case illustrates the difficulties in preoperative diagnosis of Amyand’s hernia, emphasizing the reliance on imaging modalities and clinical assessment. Successful surgical intervention involving appendectomy and hernioplasty highlights the necessity for prompt diagnosis and management. Conclusion: This case exemplifies the challenges and complexities associated with Amyand’s hernia, emphasizing the importance of early recognition and comprehensive surgical planning. Moving forward, increased clinical vigilance and awareness are essential to ensure optimal patient outcomes in cases of inguinoscrotal pathology.

Perspectives from the Inaugural "Spinal CSF Leak: Bridging the Gap" Conference: A Convergence of Clinical and Patient Expertise.

The inaugural "Spinal CSF Leak: Bridging the Gap" Conference was organized to address the complexities of diagnosing and treating spinal CSF leaks. This event aimed to converge the perspectives of clinicians, researchers, and patients with a patient-centered focus to explore the intricacies of spinal CSF leaks across 3 main domains: diagnosis, treatment, and aftercare. Physician and patient speakers were invited to discuss the varied clinical presentations and diagnostic challenges of spinal CSF leaks, which often lead to misdiagnosis or delayed treatment. Patient narratives were interwoven with discussions on advanced radiologic techniques and clinical assessments. Treatment-focused sessions highlighted patient experiences with various therapeutic options, including epidural blood patches, surgical interventions, and percutaneous and endovascular therapies. The intricacies of immediate and long-term postprocedural management were explored. Key outcomes from the conference included the recognition of the need for increased access to specialized CSF leak care for patients and heightened awareness among health care providers, especially for atypical symptoms and presentations. Discussions underscored the variability in individual treatment responses and the necessity for personalized diagnostic and treatment algorithms. Postprocedural challenges such as managing incomplete symptom relief and rebound intracranial hypertension were also addressed, emphasizing the need for effective patient monitoring and follow-up care infrastructures. The conference highlighted the need for adaptable diagnostic protocols, collaborative multidisciplinary care, and enhanced patient support. These elements are vital for improving the recognition, diagnosis, and management of spinal CSF leaks, thereby optimizing patient outcomes and quality of life. The event established a foundation for future advancements in spinal CSF leak management, advocating for a patient-centered model that harmonizes procedural expertise with an in-depth understanding of patient experiences.

Diagnosis and treatment of atopic skin syndrome in cats

Background: Feline allergic skin disease presents a diagnostic challenge due to the potentially subtle and widely variable clinical presentations known as feline reaction patterns. Cats are often secretive in their pruritic behaviours and so, unlike with canine disease, the clinical history for a cat may not give insight into the presence of pruritus. Once a diagnosis of feline allergic disease is achieved, there are several treatment options available; however, the majority have not been studied extensively in cats and many represent off‐license use.Aim of the article: This article outlines the relevant steps in making a diagnosis of feline atopic skin syndrome and reviews the treatment options available.

Emerging Hypertension in Young Adults: A Detailed Case Report on Takayasu Arteritis in a 29-Year-Old Female from South India

Abstract Introduction: Takayasu arteritis is a rare vasculitic disorder predominantly affecting young women, characterized by inflammation of the aorta and its major branches usually seen in the East Asian population. Due to its varied clinical presentation, early diagnosis remains challenging, necessitating a high index of suspicion. Case Report: A 29-year-old South Indian female presented with exertional dyspnea to the emergency department and was initially diagnosed and treated as middle lobe pneumonia. Further physical and laboratory evaluations done at that time were unremarkable. Following successful treatment, she remained largely asymptomatic and sought evaluation at the local clinic due to elevated blood pressure detected during home monitoring. On work up of hypertension Echocardiography was done which showed unusual wall thickening of the ascending aorta and mild aortic regurgitation .CT aortogram was then done which revealed aortic thickening and left renal artery stenosis. Confirmation of takayasu arteritis was achieved through PET-CT imaging at a higher tertiary care centre, leading to initiation of immunosuppressive therapy and subsequent percutaneous transluminal angioplasty stenting of the left renal artery. Conclusions: A high index of suspicion is crucial in young females with unusual presentations especially in the South Indian population where the disease is not prevalent. Due to financial constraints it is very likely that appropriate imaging is not done in cases where takayasu arteritis is not suspected by the treating physician. Lack of appropriate work up of hypertension can result in missed diagnoses which can lead to potentially disastrous side effects to the disease Keywords: Takayasu arteritis, young female, vasculitis, immunosuppressive therapy, angioplasty.

Kounis Syndrome: A Comprehensive Review of Pathophysiology, Clinical Manifestations, Diagnostic Challenges, and Therapeutic Strategies

Kounis syndrome, also known as allergic angina or allergic myocardial infarction, is a rare but potentially life-threatening condition characterized by the acute onset of chest pain, myocardial infarction, or sudden cardiac death in the setting of allergic or hypersensitivity reactions. The syndrome encompasses a spectrum of acute coronary syndromes triggered by various allergic insults, including medications, insect stings, food allergens, and environmental exposures. The pathophysiology involves the activation of mast cells and platelets, leading to coronary artery spasm, atheromatous plaque erosion or rupture, and subsequent myocardial ischemia or infarction. Diagnosis can be challenging due to the diverse clinical presentations and the need for a high index of suspicion. Management includes the identification and avoidance of triggers, along with the use of standard therapies for acute coronary syndromes. This review aims to provide a comprehensive overview of Kounis syndrome, focusing on its pathophysiology, clinical manifestations, diagnostic considerations, and therapeutic strategies.

Non-invasive imaging in acute decompensated heart failure with preserved ejection fraction.

Non-invasive imaging plays an increasingly important role in emergency medicine, given the trend towards smaller, portable ultrasound devices, the integration of ultrasound imaging across diverse medical disciplines, and the growing evidence supporting its clinical benefits for the patient. Heart failure with preserved ejection fraction (HFpEF) provides a compelling illustration of the impactful role that imaging plays in distinguishing diverse clinical presentations of heart failure with numerous associated comorbidities, including pulmonary, renal, or hepatic diseases. While a preserved left ventricular ejection fraction might misguide the clinician away from diagnosing cardiac disease, there are several clues provided by cardiac, vascular, and lung ultrasonography, as well as other imaging modalities, to rapidly identify (decompensated) HFpEF. Congestion remains the primary reason why patients with heart failure (irrespective of ejection fraction) seek emergency care. Furthermore, comprehensive phenotyping is becoming increasingly important, considering the development of targeted treatments for conditions exhibiting HFpEF physiology, such as cardiac amyloidosis. Timely recognition in such cases has lasting implications for long-term outcomes.

Qualitative findings from a randomized trial of mindfulness-based and cognitive-behavioral group therapy for opioid-treated chronic low back pain.

This article reports qualitative outcomes from a randomized controlled trial comparing eight weeks of cognitive-behavioral group therapy for chronic pain (CBT-CP) and mindfulness-based group therapy (MBT) in individuals with chronic low back pain (CLBP). Approximately 10 months post-treatment, 108 participants completed structured qualitative interviews to express how the study treatment affected their life or health. Responses were qualitatively analyzed to generate a set of themes and subthemes, with between-groups comparisons to evaluate differences (if any) in treatment-response between MBT and CBT-CP. A majority of participants (n = 88, 81.5%) across both groups reflected positively on the study intervention and outcomes, identifying benefits in pain management (31.5%), meditation and mindfulness skills (25.9%), and relaxation skills (22.2%). Perceived benefits varied widely, suggesting no one intervention may be ideal for CLBP. Future research should examine tailoring interventions to target diverse clinical presentations to achieve optimal outcomes.

EANM consensus document on the use of [18F]FDG PET/CT in fever and inflammation of unknown origin.

Patients with fever and inflammation of unknown origin (FUO/IUO) are clinically challenging due to variable clinical presentations with nonspecific symptoms and many differential diagnoses. Positron emission tomography/computed tomography (PET/CT) with 2-deoxy-2-[18F]fluoro-D-glucose ([18F]FDG) is increasingly used in FUO and IUO, but the optimal diagnostic strategy remains controversial. This consensus document aims to assist clinicians and nuclear medicine specialists in the appropriate use of [18F]FDG-PET/CT in FUO and IUO based on current evidence. A working group created by the EANM infection and inflammation committee performed a systematic literature search based on PICOs with "patients with FUO/IUO" as population, "[18F]FDG-PET/CT" as intervention, and several outcomes including pre-scan characteristics, scan protocol, diagnostic yield, impact on management, prognosis, and cost-effectiveness. We included 68 articles published from 2001 to 2023: 9 systematic reviews, 49 original papers on general adult populations, and 10 original papers on specific populations. All papers were analysed and included in the evidence-based recommendations. FUO and IUO remains a clinical challenge and [18F]FDG PET/CT has a definite role in the diagnostic pathway with an overall diagnostic yield or helpfulness in 50-60% of patients. A positive scan is often contributory by directly guiding treatment or subsequent diagnostic procedure. However, a negative scan may be equally important by excluding focal disease and predicting a favorable prognosis. Similar results are obtained in specific populations such as ICU-patients, children and HIV-patients.