Downregulation of SMOC1 is associated with progression of colorectal traditional serrated adenomas.

BACKGROUND: Aberrant DNA methylation is prevalent in colorectal serrated lesions. We previously reported that the CpG island of SMOC1 is frequently methylated in traditional serrated adenomas (TSAs) and colorectal cancers (CRCs) but is rarely methylated in sessile serrated lesions (SSLs). In the present study, we aimed to further characterize the expression of SMOC1 in early colorectal lesions. METHODS: SMOC1 expression was analyzed immunohistochemically in a series of colorectal tumors (n = 199) and adjacent normal colonic tissues (n = 112). RESULTS: SMOC1 was abundantly expressed in normal colon and SSLs while it was significantly downregulated in TSAs, advanced adenomas and cancers. Mean immunohistochemistry scores were as follows: normal colon, 24.2; hyperplastic polyp (HP), 18.9; SSL, 23.8; SSL with dysplasia (SSLD)/SSL with early invasive cancer (EIC), 15.8; TSA, 5.4; TSA with high grade dysplasia (HGD)/EIC, 4.7; non-advanced adenoma, 21.4; advanced adenoma, 11.9; EIC, 10.9. Higher levels SMOC1 expression correlated positively with proximal colon locations and flat tumoral morphology, reflecting its abundant expression in SSLs. Among TSAs that contained both flat and protruding components, levels of SMOC1 expression were significantly lower in the protruding components. CONCLUSION: Our results suggest that reduced expression of SMOC1 is associated with progression of TSAs and conventional adenomas and that SMOC1 expression may be a biomarker for diagnosis of serrated lesions and risk prediction in colorectal tumors.

Peritonsillar abscess associated with Helicobacter cinaedi bacteremia: A case report.

Helicobacter cinaedi, a gram-negative spiral bacterium, has historically been associated with infections primarily in immunocompromised patients. Recently, however, its potential to cause infections in immunocompetent individuals has been recognized. We report a unique case of a man in his 20 s who reported having sex with men. He presented with symptoms of fever and throat discomfort and was diagnosed with a peritonsillar abscess. While the rapid antigen test for Group A Streptococcus was positive and antibiotics were administered, a puncture fluid from the peritonsillar abscess taken the day after antibiotic treatment revealed the presence of Group C Streptococcus. By the fifth day, the blood culture taken on the first day detected a gram-negative spirochete, which was subsequently identified H. cinaedi. The patient had engaged in oral sex with his male partner, suggesting a potential transmission route. This is significant as H. cinaedi was initially identified from rectal cultures in men who have sex with men (MSM), raising the possibility of pharyngeal transmission through oral sex. In our patient, although H. cinaedi was not isolated from the aspirate of the peritonsillar abscess, its presence in the blood culture and lack of other potential sources of bacteremia make the abscess a likely primary site of infection. This case highlights the importance of considering H. cinaedi as a potential pathogen in immunocompetent patients, particularly in cases of MSM. The potential for H. cinaedi transmission through oral sex and its role in the development of peritonsillar abscesses, a previously unreported association, requires further investigation.

In-Hospital Onset of Transient Myoclonic State in Older Adults: A Case Report.

Background: Transient myoclonic (TM) state in older adults is a neurological condition characterised by short-lived, repetitive myoclonus without consciousness disturbance. First reported in 1992, it predominantly affects older individuals with chronic diseases. Despite its clear symptomatology, TM often remains under-recognised, leading to potential misdiagnoses. Case description: We report a case of a 68-year-old woman with a history of chronic heart failure who developed TM during hospitalisation following medication adjustment for acute heart failure. The patient, who had no history of intracranial disease or epilepsy, experienced acute involuntary movements of the face and limbs three days after diuretic adjustment. She responded well to intravenous diazepam and oral clonazepam, with no recurrence of symptoms post-treatment. Discussion: TM presents with bilateral, irregular, and repetitive myoclonus, mostly affecting the head, neck and upper extremities. Diagnosis is clinical, based on symptomatology and normal laboratory results. This case underscores the importance of recognising TM in differential diagnosis, especially in older patients in the acute or recovery phase of infection, or with medication changes. The potential role of fluid volume changes in TM pathophysiology in patients with underlying conditions such as hypertension or chronic heart failure is also highlighted. This case emphasises the need for heightened awareness and knowledge of TM among healthcare professionals. Conclusions: TM, though rare, requires awareness among clinicians for accurate diagnosis and management. It is crucial to avoid misdiagnosis and unnecessary interventions, and to provide appropriate information during care transitions, particularly in older adults with chronic conditions. LEARNING POINTS: Transient myoclonic (TM) state is a rare neurological condition in older adults, characterised by brief and repetitive myoclonus, primarily affecting the head, neck and upper extremities.The distinctive clinical diagnostic feature is myoclonus occurring without disturbances in consciousness, without amnesia or paralysis, while retaining the ability to perform directed movements. This condition can manifest at rest, may worsen with posture or movement, and tends to improve during sleep.Management strategies include ensuring smooth care transitions, avoiding misdiagnosis and educating patients and families about the risk of recurrence.

The Big Three diagnostic errors through reflections of Japanese internists.

OBJECTIVES: To analyze the Big Three diagnostic errors (malignant neoplasms, cardiovascular diseases, and infectious diseases) through internists' self-reflection on their most memorable diagnostic errors. METHODS: This secondary analysis study, based on a web-based cross-sectional survey, recruited participants from January 21 to 31, 2019. The participants were asked to recall the most memorable diagnostic error cases in which they were primarily involved. We gathered data on internists' demographics, time to error recognition, and error location. Factors causing diagnostic errors included environmental conditions, information processing, and cognitive bias. Participants scored the significance of each contributing factor on a Likert scale (0, unimportant; 10, extremely important). RESULTS: The Big Three comprised 54.1 % (n=372) of the 687 cases reviewed. The median physician age was 51.5 years (interquartile range, 42-58 years); 65.6 % of physicians worked in hospital settings. Delayed diagnoses were the most common among malignancies (n=64, 46 %). Diagnostic errors related to malignancy were frequent in general outpatient settings on weekdays and in the mornings and were not identified for several months following the event. Environmental factors often contributed to cardiovascular disease-related errors, which were typically identified within days in emergency departments, during night shifts, and on holidays. Information gathering and interpretation significantly impacted infectious disease diagnoses. CONCLUSIONS: The Big Three accounted for the majority of cases recalled by Japanese internists. The most relevant contributing factors were different for each of the three categories. Addressing these errors may require a unique approach based on the disease associations.

Unexpected Sudden Deaths Following the Co-administration of Ceftriaxone and Lansoprazole: A Case Series.

Ceftriaxone and lansoprazole are commonly used in clinical settings, but recent analyses indicate a potential risk for QTc prolongation and cardiac events when used together. This case series examines three patients from a cohort of sudden death cases at a single institution over a decade, who received both medications within 24 hours before death. Three cases were identified, each with contributing factors for cardiac arrhythmias. The results underscore the importance of monitoring and possibly avoiding this drug combination in patients at risk of QT prolongation, pending further investigation into the underlying mechanisms.

Chronic bromine intoxication complicated with Fanconi syndrome: A case report.

In this report, we describe a unique case of an 80-year-old woman who developed chronic bromine poisoning due to the prolonged ingestion of over-the-counter (OTC) medication containing bromovalerylurea (BVU), thus leading to the onset of drug-induced partial Fanconi syndrome and resultant osteomalacia. The patient's condition improved following the cessation of bromide intake. This case highlights the potential risks of chronic BVU exposure and the importance of caution regarding the use of OTC medications containing BVU.

Three Subtypes of Cutaneous Nerve Entrapment Syndrome: A Narrative Review.

Anterior, lateral, and posterior cutaneous nerve entrapment syndromes have been proposed as etiologies of trunk pain. However, while these syndromes are analogous, comprehensive reports contrasting the three subtypes are lacking. We therefore reviewed the literature on anterior, lateral, and posterior cutaneous nerve entrapment syndrome. We searched the PubMed and Cochrane Library databases twice for relevant articles published between March and September 2022. In addition to 16 letters, technical reports, and review articles, a further 62, 6, and 3 articles concerning anterior, lateral, and posterior cutaneous nerve entrapment syndromes, respectively, were included. These syndromes are usually diagnosed based solely on unique history and examination findings; however, the diagnostic process may be prolonged, and multiple re-evaluations are required. The most common first-line treatment is trigger point injection; however, the management of refractory cases remains unclear. Awareness of this disease should be expanded to medical departments other than general medicine.

Performance evaluation of ChatGPT in detecting diagnostic errors and their contributing factors: an analysis of 545 case reports of diagnostic errors.

BACKGROUND: Manual chart review using validated assessment tools is a standardised methodology for detecting diagnostic errors. However, this requires considerable human resources and time. ChatGPT, a recently developed artificial intelligence chatbot based on a large language model, can effectively classify text based on suitable prompts. Therefore, ChatGPT can assist manual chart reviews in detecting diagnostic errors. OBJECTIVE: This study aimed to clarify whether ChatGPT could correctly detect diagnostic errors and possible factors contributing to them based on case presentations. METHODS: We analysed 545 published case reports that included diagnostic errors. We imputed the texts of case presentations and the final diagnoses with some original prompts into ChatGPT (GPT-4) to generate responses, including the judgement of diagnostic errors and contributing factors of diagnostic errors. Factors contributing to diagnostic errors were coded according to the following three taxonomies: Diagnosis Error Evaluation and Research (DEER), Reliable Diagnosis Challenges (RDC) and Generic Diagnostic Pitfalls (GDP). The responses on the contributing factors from ChatGPT were compared with those from physicians. RESULTS: ChatGPT correctly detected diagnostic errors in 519/545 cases (95%) and coded statistically larger numbers of factors contributing to diagnostic errors per case than physicians: DEER (median 5 vs 1, p<0.001), RDC (median 4 vs 2, p<0.001) and GDP (median 4 vs 1, p<0.001). The most important contributing factors of diagnostic errors coded by ChatGPT were 'failure/delay in considering the diagnosis' (315, 57.8%) in DEER, 'atypical presentation' (365, 67.0%) in RDC, and 'atypical presentation' (264, 48.4%) in GDP. CONCLUSION: ChatGPT accurately detects diagnostic errors from case presentations. ChatGPT may be more sensitive than manual reviewing in detecting factors contributing to diagnostic errors, especially for 'atypical presentation'.