European Journal of Medical Case Reports

Background: Ankylosing spondylitis (AS) is a chronic inflammatory disease of the axial spine. Etanercept is a Tumor necrosis factor-alpha inhibitor (anti-TNF) that is widely used in the treatment of AS. The most common side effects of etanercept are infection, rash, and injection site reaction. Here, we reported an adverse event probably associated with etanercept. Case Presentation: A 30-year-old male patient with AS initiated etanercept due to uncontrolled back pain despite adequate doses of non-steroidal anti-inflammatory drugs. He developed erectile dysfunction (ED) within 1 month of etanercept treatment. ED disappeared after switching to secukinumab. Conclusion: There is limited data on the potential effects of anti-TNF on sexual function. ED might be a rare side effect of etanercept that resolves upon discontinuation of the drug. Secukinumab might be considered as an option in case of etanercept induced ED. Even though ED is not a life-threatening side effect, switching medications could significantly improve patients' quality of life.

Toxicology cases are frequent presentations in the emergency department (ED) and often their presentation can vary from a straightforward manner to a complex manner. In this case series we will discuss three cases that presented to the ED with a known, suspected, and unknown toxicological substance ingestion with the common denominator being high anion gap metabolic acidosis (HAGMA). HAGMA is a subcategory of metabolic acidosis. Categorizing metabolic acidosis as a high anion gap aids in identifying the underlying disease process and subsequently initiating appropriate treatment. There have been many broadly inclusive mnemonics used to list the common causes of High anion gap acidosis such as CAT MUDPILES which correspond to Carbon monoxide, Cyanide, Congenital heart disease, Aminoglycosides, Theophylline, Toluene, Methanol, Uremia, Diabetic ketoacidosis, Alcoholic ketoacidosis, Starvation, Acetaminophen, Phenformin, Paraldehyde, Iron, Isoniazid, Inborn errors of metabolism, Lactic acidosis, Ethanol, Ethylene glycol, and Salicylates, respectively. It is not uncommon to be faced with patients with an unclear clinical picture and a lack of clear toxicological ingestion. In such circumstances, the presence of a high anion gap acidosis is an important clue that should prompt investigating for uncommon toxicological causes not listed in the forementioned mnemonics, such as metformin, beta blockers, and CCBs.

Background: High-order twin pregnancy remains a serious challenge for both the clinicians and the mothers during pregnancy and after delivery with increased maternal and perinatal morbidity and mortality. Case Presentation: We present a case of a 27-year-old Gravida 2 Para 1+0 at 36 weeks and 2 days admitted in preterm labor in the second stage who successfully delivered four live babies three vertex and one breech. Conclusion: Early diagnosis of high-order twin pregnancy and referral to an appropriate specialized health center is crucial in reducing associated maternal and perinatal morbidity and mortality.

Background: Stoma is made for various indications and the closure is performed with open surgery once the indication is resolved. The case of spontaneous stoma closure rarely happens. Case presentation: In this case report, we present a 62-year-old male with a malignant rectal tumor who experienced spontaneous closure of a stoma. Laparotomy adhesiolysis exteriorization of the sigmoid and transverse colon was made with distended with tenderness all over the abdominal area as the indication. After nine months, the indication was resolved, stoma closure was planned, but the right-sided stoma was closed. Left stoma closure was performed. The patient is currently stable now. Conclusion: Spontaneous stoma closure can be considered the outcome of progressive stoma retraction followed by healing of the mucocutaneous fistula. In this case, we report the benefit of spontaneous stomal closure, no complications were found from stoma closure, and the primary goal of stoma placement was achieved. Management of spontaneous stoma closure can be done conservatively after carrying out a comprehensive examination to rule out possible complications. We report the usefulness of endoscopy and looposcopy in achieving these goals.

Background: Primary coenzyme Q10 deficiency-4 (CoQ10D4) and isolated 17,20-lyase deficiency (ILD) are both distinct and rare congenital mutations. Mutations in the CoQ8A gene are rare and cause CoQ10D4. Patients with pathogenic mutations in the CoQ8A gene exhibit symptoms such as ataxic gait, dystonia, seizures, exercise intolerance, and cognitive disabilities. Case presentation: The presence of these two mutations in a patient is extremely rare. In this present case report, a 6-year-old identical twin female with CoQ10D4 and ILD began presenting with microcephaly with developmental delay at 4 years of age. She also had regression of milestones (loss of social interaction, grasp, visual interaction, and speech-babbling) without febrile seizures. Conclusion: This case emphasizes the need for further research to elucidate the underlying mechanisms and potential targeted therapies for these rare genetic disorders, emphasizing the importance of a multidisciplinary approach in providing comprehensive care for affected individuals.

Background: Mycobacterium abscessus (M. abscessus), a rapidly growing Mycobacterium (RGM) is an emergent cause of soft issue and musculoskeletal infections. Treatment is often complicated by commonly occurring intrinsic and acquired resistance to not only the classical anti-tuberculous agents but also to most currently available antibiotics. Case Presentation: We present a case of left thumb carpometacarpal (CMC) joint septic arthritis in a 66-year-old American Caucasian woman following an intra-articular steroid injection for osteoarthritis treatment. She did not improve on conventional empirical cellulitis treatment prompting culture and sensitivity assays. Mycobacterium abscessus Deoxyribonucleic acid was detected by real-time polymerase chain reaction (PCR) with additional cultures growing the same organism within a week. Samples were sent to the New York State Department of Health for a full culture and sensitivity profile which demonstrated extensive resistance to antibacterial agents including conventional anti-tuberculous agents. Conclusion: This case not only highlights the importance of having a high degree of suspicion for M. abscessus in joint and soft tissue infections not improving to commonly used empirical therapies even in low prevalent areas. It also underlines the importance of performing cultures and sensitivity given antibiotic combinations for most RGM infections should be sensitivity guided.

Background: This case series highlights the role of Hologic Genius AI™ Detection solution in improving breast cancer detection rates. Through AI-driven technology, Genius AI Detection solution enhances the accuracy and efficiency of identifying suspicious breast lesions, leading to early diagnosis and intervention. By leveraging deep learning algorithms, Genius AI Detection solution provides actionable computer-aided detection (CAD) findings in identifying and aiding in the interpretation of potential abnormalities in breast tomosynthesis images. It also helps prioritize cases to potentially improve reading efficiency ultimately impacting breast imaging and patient care.

Case Presentation: We present three challenging cases from a routine screening population, wherein patients flagged as high-priority or suspicious for malignancy by Genius AI Detection solution were subsequently diagnosed with invasive ductal carcinoma (IDC), ductal carcinoma in situ (DCIS), and invasive lobular carcinoma that were all validated through biopsy and histopathological examination. We demonstrate the clinical utility of Hologic Genius AI Detection solution in detecting various types of breast cancers, including DCIS in a young patient with dense breast tissue and a family history of breast cancer, IDC in a patient with scattered fibroglandular densities and no family history, and invasive lobular carcinoma in a patient with similar breast density characteristics and no family history of breast cancer.

Conclusion: The cases exemplify how Hologic Genius AI Detection solution can potentially improve breast cancer detection in clinical practice.