Clinical Awareness Research Articles

Severe co-infection caused by difficult-to-diagnose hypermucoviscous Klebsiella pneumoniae K1-ST82 in a patient with COVID-19: a case report

BackgroundCo-infection with Klebsiella pneumoniae presents a significant concern in hospitalized patients with coronavirus disease (COVID-19), increasing the risk of severe disease progression. Hypervirulent (hv) and hypermucoviscous (hm) K. pneumoniae (Kp) has gained prominence in Asia due to its capacity to cause invasive community-acquired infections. However, recognition of hvKp/hmKp co-infections in the context of COVID-19 remains limited. We report a severe case of rapidly progressing co-infection with hmKp exhibiting “difficult-to-diagnose” phenotypes in a hospitalized patient with COVID-19.Case presentationA 61-year-old woman with COVID-19 initially exhibited mild symptoms resembling the common cold. However, her condition rapidly deteriorated over 7 days, leading to hospital admission with the development of dyspnea. The patient required supplemental oxygen, antibiotic treatment, and mechanical ventilation. Gram-negative bacteria with atypical phenotypes were isolated from alveolar lavage fluid and blood cultures. Both strains formed small, glossy, non-lactose-fermenting colonies on clinically relevant media and were susceptible to ampicillin. Conventional biochemical tests failed to identify the Enterobacteriales strains owing to the urease-negative phenotype. Consequently, the identification of K. pneumoniae was difficult until matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF MS) analysis was performed. A positive string test indicated mucoviscosity, but with variability in the material used for stretching colonies. Whole-genome sequencing performed on the MiSeq and GridION platforms revealed the blood-derived strain JARB-RN-0063 as belonging to serotype K1 and sequence type (ST) 82. The hvKp-associated genes rmpA and iroCD were located on a 5.0-Mb chromosome, and iucABCD-iutA was identified on a 217.9-kb IncFIB(K)/IncR-type plasmid. Therefore, JARB-RN-0063 was genetically classified as hvKp with a Kleborate virulence score of 3. The intrinsic penicillinase gene blaSHV was defective owing to an IS1F element insertion, resulting in the strain being atypically susceptible to ampicillin.ConclusionsThis is the first case of severe COVID-19-associated co-infection with a difficult-to-diagnose K. penummoniae strain. Notably, co-infection by the hmKp K1-ST82 clone exhibited atypical phenotypes, including stunted growth, non-lactose fermentation, urease-negative reaction, ampicillin susceptibility, and abnormal mucoviscosity, posing diagnostic challenges for clinical laboratories and impedes the identification of hvKp/hmKp. Delayed identification may worsen patient outcomes, highlighting the need for increased clinical awareness of such difficult-to-diagnose clones to prevent deterioration.

Prevalence and risk factors of diastasis recti abdominis in the long-term postpartum: a cross-sectional study

The aim of this study was to investigate the prevalence of diastasis recti abdominis (DRA) and to find the possible risk factors for DRA based on two diagnostic criteria among women in long-term postpartum period. A cross-sectional study was conducted on 1000 postpartum women at five different time points (3, 5, 10, 20, and 30 years after partum, respectively). Inter-recti distance (IRD) was assessed using ultrasound imaging, while basic data were collected through self-reported questionnaires. Two diagnostic criteria, IRD > 2 cm and IRD > 3 cm, were used to present the prevalence of DRA. Univariate and multivariate analyses were employed to explore the risk factors for DRA. When using the diagnostic criterion of IRD > 2 cm for DRA, the prevalence was 36%, 31%, 22%, 26%, and 30% at 3, 5, 10, 20, and 30 years postpartum, respectively. When using the diagnostic criterion of IRD > 3 cm for DRA, the prevalence was 13%, 8%, 6%, 8%, and 10%, respectively. The results revealed that higher body mass index (BMI) was a risk factor for DRA at 10 years postpartum (p = 0.000), bigger number of parturitions was a risk factor at 3, 5, and 10 years postpartum (p = 0.000, 0.004 and 0.000), twins was a risk factor at 3 years postpartum (p = 0.001), and diabetes was a risk factor at 20 and 30 years postpartum (P = 0.000 and 0.004). (1) The prevalence of DRA in the long-term postpartum period was high, especially when IRD > 2 cm was used as the diagnostic criterion. (2) Higher BMI, bigger number of parturitions, twins and diabetes were independently associated with higher odds of DRA at different long-term postpartum time points. (3) The diagnostic criterion for DRA should be further improved to avoid excessive clinical diagnosis and treatment. (1) This study elucidated the prevalence and risk factors associated with long-term postpartum DRA, thereby enhancing clinical awareness and advocating for early intervention and prevention measures to mitigate serious adverse outcomes. (2) This study presented the research results using two diagnostic criteria, increasing comparability with existing studies. In addition, discussions on reasonable diagnostic criterion for DRA were also conducted to avoid excessive clinical diagnosis and treatment.

FREQUENCY OF ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS (ABPA) IN PATIENTS ADMITTED WITH ACUTE EXACERBATION OF ASTHMA IN A TERTIARY CARE HOSPITAL IN KARACHI: A PROSPECTIVE OBSERVATIONAL STUDY

Allergic Bronchopulmonary Aspergillosis (ABPA) is a hypersensitivity reaction to Aspergillus species and often complicates the clinical course of asthma, leading to more severe exacerbations and poor disease control. Despite its clinical relevance, the prevalence of ABPA in asthma patients remains under-reported, especially in developing countries like Pakistan. Objective: This study aimed to determine the prevalence of ABPA among patients admitted with acute exacerbations of asthma at a tertiary care hospital in Karachi, Pakistan. Methods: A prospective observational quantitative study was conducted at the Department of Pulmonary Medicine, Aga Khan Hospital University Karachi, Pakistan from January 2023 to December 2023 in Karachi. The study included 150 isolated patients of either gender, aged between 18 and 80 years, with a clinical diagnosis of asthma or those eligible for spirometry. Data collected included demographic details, past medical history, pulmonary function test results, and serological data for ABPA diagnosis. The presence of ABPA was confirmed by elevated serum total IgE concentration, specific IgE to Aspergillus fumigatus, and radiological findings. Statistical analysis was conducted using SPSS, with p-values < 0.05 considered statistically significant. Results: The study revealed an overall prevalence of ABPA in 20% of the 150 patients with acute asthma exacerbations. Serum total IgE concentration was significantly higher in the ABPA group (450 IU/mL) compared to the non-ABPA group (p < 0.05). Additionally, patients with ABPA had significantly lower FEV1 (60% predicted) compared to those without ABPA (p < 0.05). Conclusion: The study highlights a notable prevalence of ABPA among asthma patients experiencing acute exacerbations. This underscores the importance of raising clinical awareness and implementing timely diagnostic strategies for ABPA in asthma management, which could significantly improve patient outcomes.

Scrub typhus-leptospirosis co-infection in India: a systematic review and meta-analysis.

Scrub typhus and leptospirosis are re-emerging zoonotic infections with significant morbidity and mortality rates in India. Overlapping aetiological and epidemiological patterns indicate a high possibility of their co-infection in India, which can be a diagnostic challenge due to non-specific clinical features. A systematic search of the PubMed/MEDLINE, Scopus and Embase databases was conducted to identify relevant studies published through 31 August 2023. Studies reporting co-infection of scrub typhus and leptospirosis among the Indian population were included. Data extraction, quality assessment and statistical analysis were performed in accordance with established guidelines. Six studies met the inclusion criteria, comprising a total of 58 co-infection cases. Pooled prevalence of scrub typhus-leptospirosis co-infection among acute undifferentiated febrile illness patients was 3.7% (95% confidence interval [CI] 0.00 to 0.126). Among scrub typhus patients, the prevalence of co-infection with leptospirosis was 13.7% (95% CI 0.027 to 0.304). Significant heterogeneity was observed among the included studies, highlighting the need for cautious interpretation of prevalence estimates. This meta-analysis underscores the clinical importance of scrub typhus-leptospirosis co-infection in India and emphasizes the need for enhanced clinical awareness, improved diagnostic strategies and targeted research efforts to address this emerging infectious disease threat.

Challenges in diagnosing and treating Liddle syndrome in resource-limited settings: A case report from Indonesia

Liddle syndrome, a rare form of monogenic hypertension, poses significant diagnostic and therapeutic challenges due to its phenotypic variability and the need for genetic testing. The rarity of the condition, coupled with the limited availability of first-line treatments such as epithelial sodium channel (ENaC) blockers, makes this case report particularly urgent and novel, highlighting alternative management strategies in resource-limited settings. The aim of this case report was to present the diagnostic challenges, therapeutic strategies, and clinical outcomes of a patient with Liddle syndrome who did not have access to ENaC blockers, emphasizing the importance of early recognition and personalized treatment. A 35-year-old female presented with resistant hypertension (190/100 mmHg) and bilateral limb weakness. Laboratory results revealed persistent hypokalemia, hypernatremia, and metabolic alkalosis. Low aldosterone levels, alongside clinical and family history, led to the diagnosis of Liddle syndrome. Genetic testing was not conducted due to resource limitations, and ENaC blockers were unavailable. The patients were managed with a combination of alternative antihypertensive agents, potassium supplementation, and a low-sodium diet. Although this approach led to modest improvements in blood pressure and motor strength, persistent hypokalemia and hypernatremia underscored the suboptimal control of the syndrome's underlying pathophysiology in the absence of ENaC blockers. This case highlights the challenges faced in resource-limited settings and the need for innovative strategies to manage rare conditions like Liddle syndrome. Liddle syndrome's diagnostic and therapeutic challenges underscore the critical importance of early recognition and access to targeted therapies. In the absence of ENaC blockers, alternative treatment strategies can provide some benefit, but they often fall short of optimal management. This case emphasizes the need for enhanced clinical awareness, improved access to genetic testing, and the development of personalized treatment approaches to achieve better patient outcomes.

Bronchiectasis Exacerbations: Are We Doing Everything We Can?

At the European Respiratory Society (ERS) Congress 2024, two experts in bronchiectasis, Pieter Goeminne, Department of Respiratory Diseases, Vitaz Saint-Nicholas Hospitals, Belgium, and Michal Shteinberg, Pulmonology Institute and CF Center – Carmel Medical Center; Israel Institute of Technology; and The B. Rappaport Faculty of Medicine, Haifa, Israel, discussed bronchiectasis’ pathogenesis and exacerbations, along with unmet needs regarding diagnosis and treatment. Bronchiectasis is a chronic and progressive inflammatory disease with a rising prevalence. Commonly associated conditions/related comorbidities of bronchiectasis include post-infective diseases and other airway conditions (such as chronic obstructive pulmonary disease [COPD] and asthma), although the cause of bronchiectasis may remain unknown in over a third of patients. Development of bronchiectasis involves the intersection of four pathogenic components: chronic infections, airway ciliary dysfunction, chronic inflammation (mostly neutrophilic), and structural lung damage, commonly known as the ‘vicious vortex.’ In particular, bronchiectasis development, progression, and exacerbation also involve upregulated and dysregulated neutrophil function. Exacerbations in bronchiectasis are marked by symptoms of increased cough, sputum changes, decreased lung function, and fatigue, among others. Careful clinical examination and awareness of bronchiectasis symptoms are needed to properly diagnose and treat the initial condition and prevent exacerbations. Triggers for exacerbations can be endogenous, such as neutrophil or eosinophil increases, as well as exogenous, including the presence of infectious agents and pollution. Research regarding treatment for bronchiectasis is limited, but European guidelines recommend airway clearance techniques and antibiotics during exacerbations. To enable more targeted treatment for bronchiectasis from first occurrence, to limit exacerbations, and during an exacerbation, there are unmet needs for better identification of resistant genes, treatments for pathogens and inflammation, and biomarkers of exacerbation triggers.

Newest "Co-Members" of the 1000s Club: A Case of Severe Transaminitis Secondary to Epstein-Barr and Dengue Virus Co-Infection in a Returning Traveler.

Timely identification of the etiology of transaminitis is critical in informing subsequent management as strategies can vary from supportive care to urgent transplant assessment. This is especially important in returning travelers as there may be multiple causes of injury that need to be addressed. We present a case of severe transaminitis secondary to non-hepatitis viral co-infections. A 28-year-old south Asian male returning traveler presented with an acute liver injury (aspartate aminotransferase/alanine aminotransaminase levels of ≥4000 IU/l) and marked jaundice. A thorough and expanded work-up of acute hepatitis was negative aside from positive mononucleosis spot testing and positive dengue fever serologies. This atypical presentation of mononucleosis and dengue fever was managed conservatively, and the patient was discharged with outpatient follow-up after an eight-day admission. Usually, non-hepatitis viruses typically do not present with severe transaminitis or hyperbilirubinemia. These viruses, such as infectious mononucleosis and dengue fever, may work synergistically to cause an elevated inflammatory response, resulting in severe transaminitis in returning travelers. In the absence of a classic clinical presentation, clinicians should be aware of co-infections in returning travelers and test for them based on a thorough history and physical examination. The differential diagnosis for severe transaminitis is narrow and commonly includes viral hepatitis (A-E), drug-induced liver injury, vascular and autoimmune causes; however other causes exist, and greater clinical awareness is needed.This case study demonstrates that even in the absence of a classic clinical presentation; in returning travelers, clinicians should have a low index of suspicion to order appropriate screening serologies based on a thorough history and physical examination as they can be sensitive diagnostic tools in detecting the etiology of severe transaminitis.In rare cases, non-hepatitis virus may act synergistically to cause severe transaminitis and should be considered in returning travelers when viral hepatitis serologies are negative.

Dental outpatient departments and patient safety: Priority for a safe care

Patient safety is an essential aspect of healthcare, including dentistry. Dental Outpatient Departments (OPDs) pose unique challenges, where the risk of infections, procedural errors, and patient discomfort can compromise safety. This review examines patient safety issues in dental OPDs, focusing on common hazards, preventive measures, and evolving strategies to ensure safer care. Infection control, medical emergencies, equipment sterilization, and patient data protection are key concerns. The complex interplay of patient management, dental procedures, and clinician awareness requires robust protocols to mitigate risks. Dental professionals must be vigilant in managing cross-contamination risks, such as through the use of personal protective equipment (PPE) and strict hand hygiene practices. Moreover, regular staff training in handling medical emergencies, such as allergic reactions or fainting, is crucial for effective management.This article also explores the role of technological advancements in enhancing patient safety, such as digital record-keeping, which minimizes documentation errors, and advanced diagnostic tools that reduce invasive procedures. Additionally, patient-centered approaches, including improved communication and informed consent practices, foster trust and reduce misunderstandings. The implementation of evidence-based guidelines and adherence to professional standards further contribute to a culture of safety. By synthesizing current research, this review aims to highlight best practices for improving patient safety in dental OPDs and underscores the importance of continuous monitoring and improvement in these settings. Addressing these safety concerns is critical not only to improve patient outcomes but also to ensure that dental OPDs remain a safe and trusted environment for all.

Rare Case of Subcutaneous Phaeohyphomycosis Caused by Exophiala jeanselmei

Abstract Introduction/Objective Phaeohyphomycosis is a neglected tropical infection caused by dematiaceous fungi containing melanin in their cell wall. Currently, the prevalence of phaeohyphomycosis is very low in the United States compared to other mycotic agents. Trauma often precedes phaeohyphomycosis, and there are a limited number of cases associated with healthcare settings. This case report describes a nosocomial phaeohyphomycosis caused by Exophiala jeanselmei. Methods/Case Report A 60-year-old male with multiple myeloma, on immunosuppressive therapy, presented with a large fluctuant mass on the dorsum of his right hand. The mass had developed 6 months ago as a hematoma following a blown vein during a blood draw. Despite treatment with antibiotics, the mass continued to grow. The patient underwent surgical excision of the lesion, and the purulent aspirate was sent to the microbiology lab. Aerobic, anaerobic, mycobacterial, and fungal cultures, along with Gram and AFB stains, were performed. Direct microscopy of the aspirate revealed numerous leukocytes and few yeast cells. No sclerotic bodies were observed. Fungal growth with black pigmentation was observed during the second week of incubation. Colonies initially appeared smooth black and mucoid, later transforming into raised dome-shaped structures with a suede-like texture. Microscopic analysis revealed budding yeast cells and subglobose to broadly ellipsoidal germinating cells, which developed into short torulose hyphae before gradually transforming into unswollen hyphae. The isolate was further identified through D2 rDNA sequencing, revealing a 100% match for Exophiala jeanselmei. The patient was prescribed a one-month course of itraconazole treatment. The patient is progressing well during follow-up. Results (if a Case Study enter NA) NA Conclusion This case emphasizes the need for heightened clinical awareness in diagnosing phaeohyphomycosis, particularly in healthcare environments. Unique traumatic events like venepuncture should raise suspicion of phaeohyphomycosis. Culture and molecular diagnostics play a crucial role in confirming fungal causes and guiding treatment, leading to better patient outcomes.

Diagnosis and Management of Lean Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD): A Systematic Review.

Lean metabolic dysfunction-associated steatotic liver disease (MASLD) defies traditional views of fatty liver diseases by manifesting in nonobese individuals. The renaming from nonalcoholic fatty liver disease to MASLD underscores a broader understanding of its pathophysiology, highlighting the complex interplay of metabolic factors beyond obesity. Despite its clinical importance, diagnosing and managing lean MASLD remains challenging due to its historical ties to obesity and a general lack of awareness about its unique characteristics. On December 4, 2023, a systematic literature search was conducted across six databases, focusing on peer-reviewed studies in English related to the diagnosis and management of lean MASLD. This study was registered with the International Prospective Register of Systematic Reviews (CRD42023489308). Out of 95 studies following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, 43 addressed diagnosis and surveillance, whereas 52 explored management strategies. The results revealed the difficulties in diagnosing lean MASLD, pointing out the limitations of traditional markers and the potential of advanced imaging techniques. Management strategies discussed included lifestyle changes and possible pharmacological treatments tailored to the specific metabolic features of this patient group. The study highlights the necessity for increased clinical awareness, regular monitoring, and personalized therapeutic approaches for lean MASLD. It calls for further research to refine diagnostic criteria and develop targeted treatments, aiming to enhance care for individuals with lean MASLD.

Multiple pulmonary hamartomas with malignant transformation of a giant pulmonary hamartomas: a case report

Pulmonary hamartomas are the most common benign tumors of the lung, typically solitary with a diameter≤4 cm, and rarely undergo malignant transformation. We reported a case of multiple pulmonary hamartomas with malignant transformation of a giant pulmonary hamartoma (approximately 10 cm×12 cm in size). The patient was a 61-year-old female who sought medical attention for the discovery of multiple lesions in the right lung during a routine examination. Computed tomography revealed multiple soft tissue density lesions in the right lung. Surgical resection was performed to remove the lower lobe of the right lung and the lesion located in the posterior segment of the right upper lobe. The pathological results indicated that the right lower lobe lesion had undergone malignant transformation to a high-grade chondrosarcoma originating from a hamartoma, while the right upper lobe lesion remained a hamartoma. By analyzing this case together with the relevant literature, we aimed to emphasize the need for clinical awareness of the malignant potential of pulmonary hamartomas.

Prevalence of Toscana Virus Antibodies in Residents of Bulgaria: A Nationwide Study Following the Pandemic of COVID-19.

Introduction: Toscana virus (TOSV) is an arthropod-borne virus transmitted by sandflies and is mainly found in countries around the Mediterranean basin. In this article, we present the findings of a seroprevalence study on TOSV in Bulgaria. We aim to assess the current epidemiological situation regarding TOSV in the country and raise clinical awareness. Methods: Serum samples (n = 1892) were collected in December 2023. Serological tests were performed using a commercial anti-TOSV ELISA kit. Results: Specific immunoglobulin G (IgG) antibodies were detected in 6.4% (121/1892) of the participants. A significantly higher seropositivity rate was found in the age group over 65 years compared with the age groups 18-29 and 40-64 (11.8% vs. 3.9% vs. 3.4%), as well as in males compared with females (8.0% vs. 5.3%). The seroprevalence rates in districts ranged from 0% to 18.5%. Higher seropositivity was found in the southern and northern regions. Conclusions: The seroprevalence rate of TOSV in Bulgaria, found in this study, is a significant decrease compared with the seropositivity rate of 24.5% reported in the country in 2018. The reasons for this are unknown and could possibly be related to the COVID-19 pandemic and the constantly changing environmental conditions. There is also a possibility that the higher seropositivity detected in 2018 together with the rise in clinical cases reported from endemic countries around that time might have been due to an unrecognized TOSV outbreak taking place in this period. Continued clinical awareness and surveillance are necessary for recognition and management of potential cases of TOSV neuroinfection, especially during summer.

Children interstitial lung disease: Assessment and management.

Diffuse parenchymal lung diseases or children interstitial lung disease (chILD) in pediatrics are a heterogenous group of more than 200 rare diseases with an incidence and prevalence around 8.2 and 46.4 cases/million, respectively, higher than previously recognized, probably related to a greater understanding and increased clinical awareness of these diseases. Children under 2 years of age account for 40%-60% of cases. Diseases presenting before the age of 2 years are mainly of genetic origin or associated with disorders of lung development and are very different from those of older children and adults. In 10%-20% of cases, a genetic cause is found, and in approximately 12%, no cause (undefined chILD) is found after performing all diagnostic tests. A multidisciplinary approach in an expert center is essential for diagnosis and treatment. Tests to be performed after lung computed tomography include serological and other blood tests, bronchoscopy and bronchoalveolar lavage, genetic studies and lung biopsy. Although no approved specific treatment for most cases of chILD exists, an improved understanding of the pathophysiology of many of these diseases is facilitating the development of new treatments.

12621 Convergence Of Sglt2 Inhibitors And Glp1 Agonists: Unveiling The Recipe For Euglycemic Diabetic Ketoacidosis

Abstract Disclosure: U. Syed: None. N.E. Fretes Oviedo: None. V. Variar: None. Introduction: Euglycemic diabetic ketoacidosis (DKA) is a known adverse effect associated with the use of SGLT2 inhibitors. The concomitant initiation of GLP1 agonists with SGLT2 inhibitors presents a potential synergistic risk, precipitating metabolic acidosis without significant hyperglycemia. The individual propensity of both medication classes to contribute to metabolic disturbances highlights the necessity for heightened clinical awareness. Clinical Case: We present a case of a 34-year-old female with morbid obesity and Type 2 diabetes mellitus, receiving tirzepatide, metformin, and empagliflozin. The patient was initiated on empagliflozin 4 days prior, and tirzepatide one day prior to presentation. Shortly after commencing tirzepatide, she experienced symptoms of decreased appetite, abdominal pain, and vomiting. Workup was consistent with DKA with blood glucose < 250 mg/dL. Management involved strict adherence to DKA protocols. The patient’s symptoms resolved with resolution of ketoacidosis. Conclusion: Euglycemic DKA poses a diagnostic challenge for patients on SGLT2 inhibitors. Concurrent administration of GLP1 agonists, while not directly implicated, may exacerbate this condition, by their gastrointestinal side effects and resultant metabolic abnormalities. Awareness of potential interactions and associated risk factors is crucial for timely diagnosis and management. Presentation: 6/3/2024

6781 A Rare Case of Diffuse Large B Cell Lymphoma of the Thyroid

Abstract Disclosure: D. Deyar: None. M. Herrera: None. M. Ahmad: None. P. Ucciferro: None. Introduction: Primary thyroid lymphoma (PTL) is rare, comprising less than 5% of thyroid cancers. It is frequently seen in middle-aged women and 1.5% of patients with Hashimoto’s thyroiditis. PTL may present with rapidly growing mass, dysphagia, stridor, or hoarseness. We describe a case of a female patient presenting with a neck mass and new onset hypothyroidism who was found to have DLBCL of the thyroid. We aim to raise clinical awareness regarding PTL and elucidate its association with Hashimoto’s disease and discuss treatment strategies. Case presentation: The patient was a 62-year-old female with a past medical history of type 2 diabetes, hypertension, and hyperlipidemia, presenting for worsening neck swelling for the past four weeks. She reported tenderness around the mass along with voice hoarseness and difficulty swallowing. She also reported increased shortness of breath associated with the mass while lying flat and denied any heat intolerance, cold intolerance, weight changes or bowel habit changes. The patient’s vitals were as follows: blood pressure: 146/104 mmHg, heart rate: 58 beats per minute, temperature: 36.3 C, respiratory rate: 20 breaths per minute. Initial blood work demonstrated the following: sodium: 137 mmol/L, potassium: 4.2 mmol/L, 9.4 mg/dL, white blood cell count: 12.1 × 109/L, hemoglobin: 14.5 g/dL, platelets: 330 × 109/L, thyroid stimulating hormone: 17.1 uIU/mL, free T4: 0.4 ng/dL, and TPO antibodies: 300 IU/mL. A CT scan of her neck demonstrated a left sided mass measuring 6.6 cm, by 5.6 cm, by 11 cm. The patient was started on 50 mcg of levothyroxine and was assessed by otorhinolaryngology and underwent fine needle aspiration biopsy. The patient’s biopsy demonstrated diffuse large B cell lymphoma of the thyroid gland. The patient was started on R-CHOP chemotherapy for her lymphoma as an outpatient and had a significant decrease in the size of her neck mass and improvement in her compressive symptoms. She is scheduled for six cycles of R-CHOP therapy and continues to follow with oncology. Discussion: Diffuse Large B Cell Lymphoma (DLBCL) of the thyroid is rare and necessitates distinct therapeutic considerations. Patients with Hashimoto's thyroiditis have been found to be 60-fold times more likely to develop primary thyroid lymphoma as compared to those without thyroiditis. The pathophysiology regarding this association remains unclear, however some suggest it may be due to chronic lymphocytic inflammation of the thyroid gland leading to monoclonal lymphocyte growth. Treatment of DLBCL of the thyroid requires immunotherapy, most commonly with the R-CHOP therapy which distinguishes it from the conventional management of thyroid carcinomas. Physicians should be vigilant in considering these treatment differences and to consider PTL as an etiology of growing thyroid mass in patients with Hashimoto’s thyroiditis. Presentation: 6/2/2024

Bridging the gap: neurodevelopmental disorder risks in inborn errors of immunity.

The aim of this review is to examine published reports of neurodevelopmental phenotypes in patients with inborn errors of immunity (IEI). We briefly discuss potential interactions between the immune and the central nervous system and the implications of this crosstalk for current clinical management guidelines. An increasing number of reports have described neurodevelopmental disorders (NDDs) comorbid with immune-mediated signs. However, the prevalence of this association in IEIs remains unknown. IEIs comprise a group of clinically heterogeneous disorders associated with a number of nonimmune comorbidities. Although certain neurological conditions such as microcephaly are recognized as associated features of some IEIs, NDDs are less well described. We reviewed published clinical descriptions of IEIs and found a number of comorbid NDDs in these patients, including autism spectrum disorder (ASD), behavioral deficits, and intellectual disability. Given the lack of uniform assessments for NDDs, we suspect they may be underdiagnosed in IEIs. As NDDs manifest early and can result in life-long cognitive and emotional deficits, which diminish quality of life and increase healthcare utilization, we hope to elucidate relevant pathomechanisms and raise clinician awareness of these comorbidities so appropriate and timely interventions are sought.

Adult Tillaux-Chaput tubercle fracture of the ankle with rupture of the peroneus tertius muscle: a case report

BackgroundTillaux-Chaput tubercle fractures occur in adolescents, which are often associated with the separation of the distal tibial growth plate. These types of fractures are rare in adults and even rarer when accompanied by a rupture of the peroneus tertius muscle. Given the limited number of reported cases, there is limited clinical awareness, resulting in missed diagnoses and delayed treatment, ultimately affecting ankle function.Case presentationWe report a case of an adult patient who experienced a right ankle injury resulting in swelling and pain after a traffic accident. Initial examination failed to identify the rupture of the peroneus tertius muscle, but the patient was observed to have restricted dorsiflexion and eversion of the foot. Surgical exploration through an anterolateral incision confirmed the rupture and the muscle was then repaired. The patient received four weeks of cast immobilization and then engaged in progressive rehabilitation exercises.Discussion and conclusionThis report shares the diagnostic and therapeutic experiences of an adult with a Tillaux-Chaput tubercle fracture associated with peroneus tertius muscle rupture to improve clinical recognition of such injuries, thus preventing misdiagnosis and treatment delays.

A-314 Influence of EDTA on TSH and 17-OHP in Newborn Screening: A Case Study

Abstract Background A 9-month-old infant presented with developmental motor delay. Comprehensive evaluation including microarray and brain MRI revealed no specific abnormalities except for hypotonicity. The patient's perinatal history, including newborn screening test (NST), showed no remarkable findings. Additionally, the infant exhibited facial dysmorphism and microcephaly, leading to another NST to explore potential metabolic diseases. Upon NST, Thyroid-Stimulating Hormone (TSH) levels were 1.86 and 1.27 mlU/L (duplicate testing results; reference value: <12 mlU/L), 17-Hydroxyprogesterone (17-OHP) levels were 0.55 and 0.48 ng/mL (duplicate testing results; reference value adjusted for body weight: <5.0 ng/mL), and total Galactose (Gal) and Galactose-1-Phosphate (Gal-1-P) levels were 1.68 mg/dL (reference value: <8 mg/dL). Methods Upon inspection of the dried blood spot (DBS) sample, the DBS used for the tests partially appeared to be inadequately collected on the absorbent filter paper, which could cause errors related to the disc and specimen itself. Consequently, re-sampling and re-testing were necessary to ensure accuracy. A second NST was performed with the new DBS samples. In the second NST results, most parameters were within the allowable ranges. However, the TSH levels were notably below the detectable limit (<0.7 mlU/L), and the 17-OHP levels were significantly elevated at 332ng/mL, diverging markedly from the initial NST results. To ensure reliability of the measured test results, TSH levels were analyzed using both the existing PerkinElmer equipment and compared with results from a Cobas 8000 system (Roche) and mass spectrometry. Similarly, 17-OHP levels were also compared using mass spectrometry. Results Upon comparing the TSH results, both analytical methods (PerkinElmer and Roche) yielded identical outcomes. However, significant discrepancy was observed when compared to mass spectrometry results. Review of the relevant testing batches showed no significant quality control issues with the NST, leading to clinical suspicion of ethylene-diamine-tetraacetic acid (EDTA)-induced interference. According to existing literature, when NST are conducted using the lanthanide fluorescence method, distortions can occur in DBS containing EDTA, depending on the concentration of EDTA present. In such cases, the EDTA-induced interference may result in false-negative TSH and false-positive 17-OHP results. These discrepancies can be differentiated using standard MS/MS testing. With regards to our case, upon enquiry, the second DBS sample was revealed to be collected from an existing EDTA sample rather than directly from the patient. Thus, adequate DBS discs from the initial sample were obtained and re-analyzed for NST using mass spectrometry, with final results reporting no specific abnormalities. Conclusions The discrepancies observed in TSH and 17-OHP levels between the first and second set of DBS samples were found to be unrelated to other laboratory factors, such as quality control issues. Instead, they were conclusively identified as false-negative and false-positive results associated with interference due to the use of EDTA-containing collection bottles. Mass spectrometry analysis was able to confirm the interference. Clinical awareness should be promoted in order to prevent EDTA-induced interference in NST.

Management of myocardial infarction with non-obstructive coronary arteries (MINOCA) in Germany: a single-center study on hospital resources and healthcare economics.

Patients with myocardial infarction with non-obstructive coronary arteries (MINOCA) present as a main feature ≤50% stenosis upon angiography despite clinical symptoms and biomarker elevation related to acute coronary syndrome. Due to broad availability of high sensitivity troponin testing as well as invasive and non-invasive imaging, this clinical entity receives increasing clinical awareness. We aimed to investigate the in-hospital work flow and economic impact of MINOCA vs. MICAD (myocardial infarction with obstructive coronary artery disease) patients and related clinical outcomes in a single-center patient collective of a large university heart center in Germany. We retrospectively screened and analyzed all patients who were admitted to our hospital under the suspicion of an acute coronary syndrome within a 12-month period (2017-2018) for further diagnostics and treatment. All included patients showed a pathological troponin elevation and received invasive coronary angiography for acute coronary syndrome. Associated in-hospital costs, procedural and various clinical parameters as well as timelines and parameters of work-flow were obtained. After screening of 3,021 patients, we included 660 patients with acute coronary syndrome. Of those, 118 patients were attributed to the MINOCA-group. 542 patients presented with a "classical" myocardial infarction (MICAD group). MINOCA patients were less frail, more likely female, but showed no relevant difference in age or other selected comorbidities except for fewer cases of diabetes. In-hospital mortality (11% vs. 0%; p < 0.001) and 30-day mortality (17.3% vs. 4.2%; p < 0.001) after the index event were significantly higher in the "classical" myocardial infarction group (MICAD)- Despite a shorter overall length of hospital stay (9.5 ± 8.7 days vs. 12.3 ± 10.5 days, p < 0.01) with a significantly shorter duration of high care monitoring (intensive/intermediate care or chest pain units) (2.4 ± 2.1 days vs. 4.7 ± 3.3 days, p < 0.01) MINOCA patients consumed a relevant contingent of hospital resources. Thus, in a 12-months period a total sum of almost 300 days was attributed to high care monitoring for MINOCA patients with a mean difference of approximately 50% compared to patients with classical myocardial infarction. With average and median costs of 50% less per index, MINOCA treatment costs were lower compared to the MICAD group in the hospital reimbursement system of Germany. Consequently, MINOCA treatment was not associated with a relevant profit for these expanses and a relevant share of nearly 40% of the total costs was generated due to high care monitoring. In light of lower mortality than MICAD and growing scarcity of staff, financial and capacity resources the clinical symptom complex of MINOCA should be put under particular consideration for refining care concepts and resource allocation.

Enhancing minority participation in cancer clinical trials: Insights from a mixed methods study.

70 Background: The urgency to enhance cancer clinical trial enrollment among racial and ethnic minority patients is underscored by the rise in novel therapies. This study examines referral mechanisms from a community-based oncology care clinic to an academic medical center, evaluates the clinical trial knowledge of minority groups, and explores perceptions and attitudes toward trials. Methods: Using a sequential explanatory mixed methods research design, Clinical Trial Knowledge Survey was administered to patients seen at the Hem/Onc clinic in a community-medical center. Descriptive statistics were calculated and multivariate analysis were used to examine associations between variables using STATA 18. Qualitative data from 10 semi-structured interviews were analyzed by two independent investigators using NVivo 14. Themes were identified through a combination of deductive and inductive approaches. Results: Of the 502 mailers sent, 97 individuals responded (response rate of 9.56%). Average age of participants was 54 years, predominantly single and African American. Majority of the of respondents (62%) agreed that patient participation is crucial for generating new and effective treatments. 65% believed that clinical trials are typically conducted on drugs presumed to be effective. However, 32.99% of the respondents perceived participation in clinical trials as a frightening experience. Four qualitative themes emerged: (i) Engagement with one’s health varied between participants. (ii) While clinical trial awareness was limited, willingness to participate was strongly endorsed. (iii) Clinical trial decision-making is a complex process heavily influenced by awareness of and attitudes toward clinical trials. (iv) There is a need to tailor educational strategies to increase awareness of and participation in clinical trials. Conclusions: Our findings emphasize the critical role of awareness and tailored, culturally congruent educational strategies that are crucial to bridge the knowledge gap, alleviate hesitations, and enhance cancer clinical trial participation rates among racial and ethnic minorities.