Diagnostic Challenge Research Articles

Multiple brain abscesses caused by Nocardia farcinica infection after hand injury: A case report and literature review.

Nocardia infection is commonly regarded as an opportunistic pulmonary pathogen affecting debilitated or immunocompromised individuals. Brain abscesses caused by Nocardia farcinica are rare and pose a diagnostic challenge. Traditional diagnostic techniques for identifying Nocardia species, such as blood culture, microscopy, and pathology, have shown inadequate performance. In the reported case, we applied metagenomic next-generation sequencing (mNGS) to diagnose a case of brain abscess due to N. farcinica. A 66-year-old female developed a brain abscess after sustaining a hand injury. The patient exhibited a gradual change in personality and experienced tremors in her right upper limb for a duration of 1 month. The pathogen responsible for the multiple brain abscesses was identified in the cerebrospinal fluid as N. farcinica through mNGS. Antibiotic treatment included trimethoprim-sulfamethoxazole, linezolid, amikacin, meropenem, and moxifloxacin. The patient's symptoms and signs improved significantly after administration of antibiotics to which the pathogen is known to be sensitive. After 5 months of follow-up, magnetic resonance imaging of the head showed that the abscess was basically cured. The patient lived a normal life with no adverse drug reactions. Nocardia brain infection is characterized by an insidious onset and lacks distinctive clinical and imaging features. mNGS was advantageous for the timely identification and management of Nocardia-associated brain abscess in the present case and obviated the need for invasive brain surgery. Expeditious and precise diagnosis coupled with prompt antibiotic therapy can significantly reduce the mortality rate associated with this condition.

The Diagnostic Challenge of Cystic Echinococcosis in Humans: First Assessment of Underreporting Rates in Mongolia

Cystic echinococcosis (CE), caused by the larval stage of Echinococcus granulosus, is significantly underreported in Mongolia due to geographical remoteness, a lack of early diagnostics, and poor clinical management. This study aimed to provide a more accurate estimate of CE in Mongolia by comparing data from surgical (reported) and diagnosed (unreported) cases and assessing the challenges faced by rural doctors in disease management and surveillance. We collected data on surgical cases hospitalized between 2006 and 2016 and newly diagnosed CE cases in 2016 from eight provinces. Using a quasi-Poisson regression model, we extrapolated the collected data to estimate the number of diagnosed cases for the entire country. Additionally, forty health professionals from all 21 provinces rated local clinical management for CE through a questionnaire. The results reveal that surgical cases (2.2 per year) represent only one-eighth of diagnosed cases (15.9 per year). The laboratory facilities, disease reporting, and cyst classification usage scored below 2. These results highlight the significant underreporting of CE in Mongolia and urge human and animal health experts, along with policymakers, to invest in combating CE, particularly in remote provincial areas. This study also emphasizes the need for standard clinical management involving cyst classification according to the WHO-IWGE and seamless integration of CE reporting and monitoring mechanisms, which can significantly contribute to the national and global burden estimation of CE.

Pseudonectria keratitis—emerging pathogenic fungi in the eye

BackgroundInfectious keratitis, a significant contributor to blindness, with fungal keratitis accounting for nearly half of cases, poses a formidable diagnostic and therapeutic challenge due to its delayed clinical presentation, prolonged culture times, and the limited availability of effective antifungal medications. Furthermore, infections caused by rare fungal strains warrant equal attention in the management of this condition.Case presentationA case of fungal keratitis was presented, where corneal scraping material culture yielded pink colonies. Lactophenol cotton blue staining revealed distinctive spore formation consistent with the Fusarium species. Further analysis using Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS) identified the causative agent as Fusarium proliferatum. However, definitive diagnosis of Pseudonectria foliicola infection was confirmed through ITS sequencing. The patient’s recovery was achieved with a combination therapy of voriconazole eye drops and itraconazole systemic treatment.ConclusionPseudonectria foliicola is a plant pathogenic bacterium that has never been reported in human infections before. Therefore, ophthalmologists should consider Pseudonectria foliicola as a possible cause of fungal keratitis, as early identification and timely treatment can help improve vision in most eyes.

Peroneus brevis split rupture is underreported on magnetic resonance imaging of the ankle in patients with chronic lateral ankle pain

IntroductionPeroneus brevis split rupture poses a diagnostic challenge, often requiring magnetic resonance imaging (MRI), yet splits are missed in initial radiological reports. However, the frequency of reported peroneus brevis split rupture in clinical MRI examinations is unknown. AimThis study aimed to investigate underreporting frequency of peroneus brevis split rupture in patients with lateral ankle pain. MethodsWe re-evaluated 143 consecutive MRI examinations of the ankle joint, conducted in 2021 in our region, for patients experiencing ankle pain persisting for more than 8 months. Two musculoskeletal radiologists, with 12 and 8 years of experience respectively, assessed the presence of peroneus brevis split rupture. Patients with recent ankle trauma, fractures, postoperative changes, or MRI artifacts were excluded. The radiologists evaluated each MRI for incomplete or complete peroneus brevis split rupture. The consensus between the raters was used as the reference standard. Additionally, raters reviewed the original clinical radiological reports to determine if the presence of peroneus brevis split rupture was noted. Agreement between raters' assessments, consensus, and initial reports was evaluated using Gwet’s AC1 coefficients. ResultsInitial radiological reports indicated 23 cases (52.3 %) of peroneus brevis split rupture, meaning 21 cases (47.7 %) were underreported. The Gwet’s AC1 coefficients showed that the agreement between raters and initial reports was 0.401 (standard error 0.070), 95 % CI (0.261, 0.541), p<.001, while the agreement between raters in the study was 0.716 (standard error 0.082), 95 % CI (0.551, 0.881), p<.001. ConclusionPeroneus brevis split rupture is underreported on MRI scans of patients with lateral ankle pain.

Effectiveness of ultrasonography in the diagnosis of temporomandibular joint disorders: A systematic review and meta-analysis.

Temporomandibular disorders (TMDs) pose diagnostic challenges, and selecting appropriate imaging modalities is crucial for accurate assessment. This study aimed to compare the diagnostic accuracy and efficacy of ultrasonography (US) and magnetic resonance imaging (MRI) in identifying TMDs. A comprehensive meta-analysis was conducted, including studies that compared US and MRI for TMJ disorder assessments. Fixed-effects models were utilized to calculate pooled odds ratios (ORs) and relative risks (RRs) with 95% confidence intervals (CIs). Heterogeneity was assessed using the chi-squared test and I2 statistic. Newcastle-Ottawa scale was used to assess the methodological quality of the studies included. Six studies were included, involving a total of 281 participants. The meta-analysis demonstrated that MRI was statistically somewhat better than US in identifying TMJ disorders. The summary OR was 0.64 (95% CI: 0.46-0.90), and the summary RR was 0.80 (95% CI: 0.68-0.95). Heterogeneity among the studies was low (χ2 = 2.73, df = 5, p = .74; I2 = 0%). Demographic variables revealed variations in sample size, gender ratio and mean age across the studies. This meta-analysis provides evidence that MRI may be more effective than US in diagnosing TMDs. However, the study is limited by the small number of included studies and variations in demographic variables and study designs. Future research with larger samples and standardised protocols is essential to confirm and strengthen these findings. Understanding the diagnostic accuracy of MRI and US for TMJ disorders will aid clinicians in making informed decisions for effective TMJ disorder assessments and patient management.

Co-occurrence of tethered cord syndrome and cervical spine instability in hypermobile Ehlers-Danlos syndrome

The Ehlers-Danlos Syndromes (EDS) represent a group of hereditary connective tissue disorders, with the hypermobile subtype (hEDS) being the most prevalent. hEDS manifests with a diverse array of clinical symptoms and associated comorbidities spanning the musculoskeletal, neurological, gastrointestinal, cardiovascular, and immunological systems. hEDS patients may experience spinal neurological complications, including cervico-medullary symptoms arising from cranio-cervical and/or cervical instability/hypermobility, as well as tethered cord syndrome (TCS). TCS is often radiographically occult in nature, not always detectable on standard imaging and presents with lower back pain, balance issues, weakness in the lower extremities, sensory loss, and bowel or bladder dysfunction. Cervical instability due to ligament laxity can lead to headaches, vertigo, tinnitus, vision changes, syncope, radiculopathy, pain, and dysphagia. TCS and cervical instability not only share clinical features but can also co-occur in hEDS patients, posing challenges in diagnostics and clinical management. We present a review of the literature and a case study of a 20-year-old female with hEDS, who underwent surgical interventions for these conditions, highlighting the challenges in diagnosing and managing these complexities and underscoring the importance of tailored treatment strategies to improve patient outcomes.

Heart failure with improved ejection fraction: patient characteristics, clinical outcomes and predictors for improvement

BackgroundHeart failure with improved ejection fraction (HFimpEF) is a recently recognized entity presenting a diagnostic and therapeutic challenge. Our aim was to characterize the profile of HFimpEF patients and evaluate predictors for EF lack of improvement among heart failure with reduced ejection fraction (HFrEF) patients.MethodsWe included ambulatory HFrEF patients (EF≤40%) between January 1, 2015, and September 1, 2022, with two consecutive echocardiography exams at least 6 months apart. HFimpEF was defined as improved EF from ≤40%–&amp;gt;40% and by ≥10%.ResultsA total of 567 HFrEF patients (72% male, 54.3 ± 14.4 years old) were analyzed. Patients without EF improvement were more likely to be male, had more comorbidities, ischemic cardiomyopathy (ICMP), markers of adverse cardiac remodeling (lower EF and higher left and right ventricular diameters) and presence of late gadolinium enhancement (LGE) in MRI (P &amp;lt; 0.05 for all). In a multivariate analysis, male sex, ICMP, lower EF, larger ventricular size and LGE remained independent predictors for lack of EF improvement. A prediction model for lack of EF improvement including LVEF, LV diameter, diastolic blood pressure and ischemic etiology exhibited an area under the ROC curve of 0.77 (95% CI 0.73–0.81; P &amp;lt; 0.001). HFimpEF patients had better prognosis with lower hospitalizations and mortality rates. Guideline directed medical therapy (GDMT) were associated with improved outcomes in both groups regardless of EF improvement.ConclusionsLack of improvement in EF among HFrEF patients may be predicted by HF etiology and imaging parameters of adverse cardiac remodeling, and is associated with worse prognosis. GDMT were associated with improved outcomes in both HFimpEF and HFrEF patients.

Critical Management of Recurrent Seizure at 16-Year-Old Primigravida with Atypical Eclampsia: A Case Report

Background: Atypical eclampsia, characterized by seizures without the classic signs of hypertension and proteinuria, presents a diagnostic and therapeutic challenge in the critical management aspect. This case report highlights the critical management of recurrent seizures in a young primigravida with atypical eclampsia. Case presentation: A 16-year-old primigravida at 38 weeks gestation presented with recurrent generalized tonic-clonic seizures. Despite initial magnesium sulfate therapy, seizures persisted postpartum. The patient was managed with a combination of midazolam and dexmedetomidine for seizure control and sedation. After five days of intensive care, the patient recovered without further complications. Conclusion: This case underscores the importance of considering atypical eclampsia in pregnant women presenting with seizures, even in the absence of typical preeclampsia symptoms. The successful use of midazolam and dexmedetomidine in this case suggests their potential as alternative therapeutic agents for refractory seizures in eclampsia. Further research is needed to validate these findings and establish optimal treatment protocols for atypical eclampsia.

Myalgic encephalomyelitis : etiopathogenesis, diagnosis and treatment

Myalgic encephalomyelitis (ME), also known as chronic fatigue syndrome (CFS), is a neurological disorder involving multiple pathophysiological mechanisms and etiologies. Symptoms include asthenia, myalgia, post-exertional malaise and neurocognitive disorders. While the numerous patient complaints pose a diagnostic challenge, the advent of new technologies paves the way for innovative methods to reveal ME. The heterogeneity of the disease's mechanisms complicates the search for effective treatments but also offers the prospect of numerous beneficial molecules. Combining treatments targeting mitochondrial dysfunction, oxidative stress, inflammation and immunological disorders appears to be the current optimal therapeutic approach.

Bipolar Camouflage: A Cerebellar Cognitive Affective Syndrome Case Report.

The cerebellar cognitive affective syndrome is a neuropsychiatric syndrome composed of affective (anxiety, depression, euphoria, and emotional lability) and cognitive symptoms (executive, attentional, and visuospatial deficits) that was described in the 1990s. We present the case of a 49-year-old woman with a history of an acute neurological episode at the age of 28, after which she reported a change in personality, brief and alternating periods of depression, hypomania, and mixed episodes, and cognitive impairment that had a major impact on her personal and occupational level of functioning. She was initially diagnosed with bipolar disorder, but a clinical, neuropsychological, and imaging re-evaluation prompted a diagnostic reconsideration in favor of a cerebellar cognitive affective syndrome. This enabled therapeutical and prognostic refinement. Here, we discuss the diagnostic challenges of this syndrome and the implications that an accurate diagnosis has for patients.

A paradigm shift in diagnosis and treatment innovation for mucinous cystic neoplasms of the liver

This study comprehensively explores the clinical characteristics, diagnostic approaches, and treatment methods for liver mucinous cystic neoplasms (MCN). A retrospective analysis was conducted on seven individuals diagnosed with MCN, admitted to the Fifth Medical Center of the PLA General Hospital between October 2016 and May 2023. Preoperative AFP was negative, while CA19-9 was elevated in two cases. Surgical resection was performed for all patients. The patients showed favorable postoperative recovery. Follow-up revealed an excellent overall survival rate, except for one case of invasive carcinoma resulting in tumor recurrence and metastasis 6 months after surgery. MCN poses a diagnostic challenge due to the absence of distinct clinical and radiological features, leading to potential misdiagnosis and inappropriate treatment. Patients with suspected liver cystic diseases should consider the possibility of MCN. Surgical resection has proven to be a practical approach with satisfactory therapeutic outcomes.

“Iliacus muscle abscess as an unexpected cause of posterior hip pain in a healthy young adult female”: a case report

BackgroundIliacus muscle abscess is an uncommon but potentially life-threatening condition that can present with nonspecific symptoms, posing diagnostic challenges. This case report highlights the importance of considering iliopsoas abscess in patients presenting with fever and hip pain, especially in the absence of obvious risk factors or penetrating trauma. The novelty of this case lies in its atypical presentation mimicking a respiratory viral infection and musculoskeletal injury, impeding accurate diagnosis and appropriate management.Case PresentationA previously healthy 21-year-old female who had a mechanical fall 3 weeks prior presented with fever, right hip pain, and respiratory symptoms, initially suggestive of a respiratory infection and musculoskeletal injury. However, initial investigations revealing a markedly high C-reactive protein (CRP) concentration prompted further computed tomography (CT) imaging of her abdomen and pelvis, which uncovered an iliopsoas abscess presumably stemming from antecedent trauma. Subsequent CT guided aspiration along with culture-sensitive antibiotics led to successful treatment and resolution of her symptoms.ConclusionsThis case emphasizes the importance of considering iliopsoas abscess as a possible differential, even in young patients without typical risk factors. Markedly elevated inflammatory markers such as CRP concentrations can serve as a vital indicator, directing attention towards the possibility of septicemia or the presence of an occult abscess, facilitating prompt imaging and accurate diagnosis.

Innovative approaches to microbial identification enhancing accuracy and speed in infectious disease diagnostics

The rapid and accurate identification of microbial pathogens is crucial for effective management of infectious diseases. Traditional methods, though reliable, are often time-consuming. Recent advancements in molecular diagnostics, mass spectrometry, and next-generation sequencing (NGS) have revolutionized the field by enhancing both the speed and accuracy of microbial identification. Polymerase chain reaction (PCR) and its derivatives, such as real-time PCR, enable rapid amplification of genetic material, significantly reducing diagnostic times. Techniques like nucleic acid sequence-based amplification (NASBA) and loop-mediated isothermal amplification (LAMP) further extend these capabilities to resource-limited settings by operating at constant temperatures. Mass spectrometry, particularly matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF), provides rapid and accurate microbial identification by analyzing protein profiles. This method has high throughput, is cost-effective, and offers the ability to detect antimicrobial resistance, significantly impacting clinical decision-making and patient management. NGS technologies offer comprehensive pathogen detection by sequencing entire microbial genomes. This approach is invaluable in diagnosing complex infections, tracking outbreaks, and identifying antibiotic resistance genes, though its high cost and complexity limit widespread use. The integration of these innovative technologies into clinical practice enhances the ability to diagnose and manage infectious diseases effectively. Molecular diagnostics, mass spectrometry, and NGS each bring unique strengths, from rapid and precise pathogen detection to comprehensive genetic analysis and resistance profiling. These advancements contribute to improved patient outcomes and more effective public health strategies. The continued development and implementation of these technologies are essential to address the evolving challenges in microbial diagnostics, paving the way for more precise and personalized approaches in infectious disease management.

Diagnostic Challenges of Aleukemic Myeloid Sarcoma

Diagnostic Challenges of Aleukemic Myeloid Sarcoma

Uncharted Territory Navigating a Rare Candida Albicans Liver Abscess Case

This case report describes a rare instance of Candida albicans liver abscess in a 46-year-old immunocompetent male with extensive medical history. The report underscores the diagnostic challenges in such atypical presentations and emphasizes the critical role of a multidisciplinary approach for effective management, highlighting the unusual nature of the case in the context of the patient's immune competence.

A Comprehensive Multidisciplinary Approach to Diagnosing Chronic Inflammatory Bowel Diseases: Integration of Clinical, Endoscopic, and Imaging Modalities

Chronic inflammatory bowel diseases, such as Crohn’s disease and ulcerative colitis, present diagnostic challenges due to their complex and heterogeneous nature. While histology remains fundamental for accurate diagnosis, a multidisciplinary approach incorporating clinical, endoscopic, and imaging modalities is increasingly recognized as essential for comprehensive evaluation. This article delves into the importance of integrating various diagnostic techniques in the assessment of IBD. Colonoscopy and histology, with its ability to directly visualize the intestinal mucosa, play a central role in the diagnostic process. However, histological analysis alone may not suffice, necessitating the inclusion of advanced imaging techniques, such as magnetic resonance enterography (MRE), computed tomography enterography (CTE), and intestinal ultrasound (IUS). These techniques provide valuable insights into the disease’s extent, severity, and complications, and should be used in conjunction with biochemical parameters. These modalities complement traditional endoscopic and histological findings, offering a more holistic understanding of the disease process. A multidisciplinary approach that incorporates clinical, endoscopic, histological, serological, and imaging assessments enables clinicians to achieve a more accurate and timely diagnosis of IBD. Moreover, this integrated approach facilitates personalized treatment strategies tailored to individual patient needs, ultimately improving clinical outcomes and quality of life for those affected by chronic inflammatory bowel diseases.

A Complex Case of Obstructive Jaundice in a Septuagenarian: Diagnostic Challenges and Therapeutic Strategies

A Complex Case of Obstructive Jaundice in a Septuagenarian: Diagnostic Challenges and Therapeutic Strategies

Pregnancy and Unilateral Krukenberg Tumour: Factual or Fictious – A Case Report

Krukenburg tumor, a secondary ovarian neoplasm, arises from various primary sites. It’s occurrence during pregnancy is extremely rare. We are reporting the case of a 24 year old G2P1L1 lady with a unilateral Krukenberg tumor diagnosed in first trimester of pregnancy. The case posed as a diagnostic challenge as the presentation is non-specific and radiological diagnosis is very challenging owing to the similarity of the tumour to ectopic pregnancy on imaging. The sparsity of data and unique presentation of the patient inspired us to write this report. This is a 24 year old lady who presented to the emergency department with the complaints of amenorrhea for 2 months, pain abdomen and bleeding per vaginum for 2 days. Urine Pregnancy Test done at home was positive. She was found to be in shock and was resuscitated. Ultrasonography done showed a possibility of an ectopic pregnancy with rupture or a partial molar pregnancy. She was taken up for emergency laparotomy, a lobulated, irregular right sided ovarian mass suggestive of a right ovarian neoplasm with a normal left ovary and an intrauterine incomplete abortion was found. She underwent right salpingo-oophorectomy along with the ovarian mass; with stepwise exploration of pelvis and abdomen followed by dilatation and curettage for the evacuation of the retained product of conception. Histopathological examination revealed features suggestive of metastatic Signet Ring Cell Carcinoma. Further investigation with CECT chest, abdomen and pelvis and upper GI endoscopy revealed a gastric primary. This case depicts the challenges faced by physicians in correctly diagnosing malignant tumours during pregnancy. By reporting this case, we aim to raise awareness among physicians regarding the need for heightened vigilance and multi-disciplinary approach in order to timely and accurately diagnose such conditions.

Otorhinolaryngologic Manifestations of Tuberculosis: A Comprehensive Review of Clinical and Diagnostic Challenges

Otorhinolaryngologic Manifestations of Tuberculosis: A Comprehensive Review of Clinical and Diagnostic Challenges

Retrospective Single Nucleotide Polymorphism Analysis of Host Resistance and Susceptibility to Ovine Johne’s Disease Using Restored FFPE DNA

Johne’s disease (JD), also known as paratuberculosis, is a chronic, untreatable gastroenteritis of ruminants caused by Mycobacterium avium subsp. paratuberculosis (MAP) infection. Evidence for host genetic resistance to disease progression exists, although it is limited due to the extended incubation period (years) and diagnostic challenges. To overcome this, previously restored formalin-fixed paraffin embedded tissue (FFPE) DNA from archived FFPE tissue cassettes was utilized for a novel retrospective case-control genome-wide association study (GWAS) on ovine JD. Samples from known MAP-infected flocks with ante- and postmortem diagnostic data were used. Cases (N = 9) had evidence of tissue infection, compared to controls (N = 25) without evidence of tissue infection despite positive antemortem diagnostics. A genome-wide efficient mixed model analysis (GEMMA) to conduct a GWAS using restored FFPE DNA SNP results from the Illumina Ovine SNP50 Bead Chip, identified 10 SNPs reaching genome-wide significance of p &lt; 1 × 10−6 on chromosomes 1, 3, 4, 24, and 26. Pathway analysis using PANTHER and the Kyoto Encyclopedia of Genes and Genomes (KEGG) was completed on 45 genes found within 1 Mb of significant SNPs. Our work provides a framework for the novel use of archived FFPE tissues for animal genetic studies in complex diseases and further evidence for a genetic association in JD.