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Orofacial pain is a worldwide pain problem, with many patients unable to find appropriate diagnosis and treatment. Orofacial pain includes pain arising from the odontogenic and nonodontogenic structures in the head and neck region. Dental clinicians need to have a thorough knowledge and skill to diagnose, manage, and treat patients with odontogenic pain or refer patients for treatment of nonodontogenic pain to specialists such as orofacial pain specialists, neurologists, otolaryngologists, and rheumatologists. More often, dental practitioners diagnose patients with a temporomandibular disorder (TMD), and when treatment is ineffective, term it "atypical facial pain." The first requirement for effective treatment is an accurate diagnosis. Dental clinicians must be aware of giant cell arteritis (GCA), a chronic large-vessel vasculitis, primarily affecting adults over the age of 50 years, as it frequently mimics and is misdiagnosed as TMD. GCA is associated with loss of vision, and stroke and can be a life-threatening disorder. Therefore, diagnostic testing for GCA and differential diagnosis should be common knowledge in the armamentarium of all dental clinicians. Historically, temporal artery biopsy was considered the definitive diagnostic test for GCA. Temporal artery ultrasound (TAUSG), a safe and noninvasive imaging modality, has replaced the previous diagnostic gold standard for GCA, the temporal artery biopsy, owing to its enhanced diagnostic capabilities and safety profile. The present case report describes a patient with GCA, and the role TAUSG played in the diagnosis. Case report: A 72-year-old woman presented with left-sided facial pain, jaw claudication, dysesthesia of the tongue, and episodic loss of vision of 2 years' duration. She was diagnosed with and treated for a myriad of dental conditions including endodontia and temporomandibular joint therapy with no benefit. A thorough history and physical examination, combined with serologic analysis, led to the diagnosis of GCA and TAUSG, which confirmed the diagnosis. Conclusion: This report underscores the responsibility of differential diagnosis and early recognition of GCA facilitated by TAUSG in optimizing treatment outcomes as a viable, noninvasive diagnostic tool. [ABSTRACT FROM AUTHOR]

This study aimed to determine whether choroid plexus volume (CPV) could differentiate multiple sclerosis (MS) from its mimics. A secondary analysis of two previously enrolled studies, 50 participants with MS and 64 with alternative diagnoses were included. CPV was automatically segmented from 3T magnetic resonance imaging (MRI), followed by manual review to remove misclassified tissue. Mean normalized choroid plexus volume (nCPV) to intracranial volume demonstrated relatively high specificity for MS participants in each cohort (0.80 and 0.76) with an area under the receiver-operator characteristic curve of 0.71 (95% confidence interval (CI) = 0.55-0.87) and 0.65 (95% CI = 0.52-0.77). In this preliminary study, nCPV differentiated MS from its mimics.

The vast majority of GP appointments had to move from in-person to remote consultation during the pandemic. Rather than phasing this out now that the threat of the coronavirus has begun to ebb, the UK government has announced that digital-first primary care will continue for the foreseeable future. While remote consultation can be beneficial on several fronts, it can compromise professional identity, therapeutic alliance, patient safety and access to healthcare. A hasty push towards normalising digitally-enabled care may therefore increase the risk of misdiagnoses, medical negligence, unnecessary referrals and health inequity. To enhance the gains and iron out the challenges associated with IT-led triage and consultations, it is important to reflect on the lessons learned from the pandemic. [ABSTRACT FROM AUTHOR]

Cardiac myxoma is considered the most common primary cardiac tumor and has been reported to cause different neurological complications through distinctive mechanisms, including pseudovasculitis. Herein, we present and review a case of a young male with a previous history of ischemic stroke who presented with multiple territorial ischemic insults in the presence of a presumed diagnosis of vasculitis. Once further workup was done, he was found to have a left atrial myxoma. [ABSTRACT FROM AUTHOR]

Background: Cervical choriocarcinoma is an extremely rare malignancy that is often misdiagnosed due to its nonspecific symptoms, such as vaginal bleeding. Case report: A 39-year-old female presented to the emergency department of the First Affiliated Hospital of Sun Yat-sen University with vaginal bleeding and a serum β-human chorionic gonadotropin (β-HCG) level of 229,386 mIU/mL. Initially, she was misdiagnosed with cervical pregnancy and subsequently underwent selective uterine artery embolization and cervical mass excision. However, pathological examination revealed the diagnosis of cervical choriocarcinoma. Conclusion: This case highlights the propensity for misdiagnosis of cervical choriocarcinoma. Selective uterine artery embolization proves to be an efficient measure to manage hemorrhage and potentially avoid unnecessary hysterectomy. [ABSTRACT FROM AUTHOR]

Background: During embryogenesis, the spleen undergoes intricate developmental processes, originating from mesenchymal cells in the dorsal mesentery. An accessory spleen, a common anomaly found in autopsies and abdominal CT scans, can often be mistaken for different types of tumors. To the best of our knowledge, this is the first case in Syria documenting the occurrence of 3 accessory spleens in a patient who had previously undergone splenectomy. Case presentation: A 33-year-old male presented with right hypochondrium pain, sharp and radiating to the right flank, exacerbated by movement and large meals. Past medical history included mild Irritable Bowel Syndrome (IBS) and splenectomy due to a traumatic accident in childhood. On admission, vital signs were stable, with abdominal tenderness in the right upper quadrant. Laboratory investigations showed normal values. Ultrasound revealed a lobulated mass at the right adrenal gland (4.5 × 5 cm) with an isoechoic to hypoechoic texture. Multi-slice computed tomography (MSCT) Scan showed multiple nodules in the right adrenal gland, regular in shape, exerting a compressive mass effect, and significant lymphadenopathy around the abdominal aorta. Elevated metanephrine levels raised suspicion of an extra-adrenal pheochromocytoma. Laparoscopic surgery was performed, revealing accessory spleens and normal adrenal tissue with no malignancy. Conclusion: Healthcare providers should consider accessory spleens as a differential diagnosis for masses near the adrenal glands. Multiple accessory spleens in the adrenal region can complicate cases. Accessory spleens in uncommon locations like the adrenal glands can be challenging to diagnose and manage. [ABSTRACT FROM AUTHOR]

Background: Cerebrospinal fluid rhinorrhea is a rare condition characterized by the abnormal leakage of cerebrospinal fluid from the intracranial space into the sinonasal cavity. It includes various etiologies, including traumatic, iatrogenic, and spontaneous causes, each with distinct epidemiological and clinical characteristics. Case presentation: A 40-year-old Asian female presented with a three-month history of watery discharge from her left nostril and dull headaches localized to the left side of her head. Despite the initial diagnosis of allergic rhinitis, symptoms persisted, leading to further evaluation and eventual diagnosis of cerebrospinal fluid rhinorrhea. Detailed history, physical examination, and diagnostic tests including fluid analysis and imaging confirmed the diagnosis. The patient underwent a successful surgical repair after failed conservative management, highlighting the importance of timely intervention. Conclusion: Cerebrospinal fluid rhinorrhea poses significant risks if left untreated, including meningitis. Prompt recognition, accurate diagnosis, and individualized treatment strategies are crucial in mitigating complications and improving patient outcomes. A multidisciplinary approach, incorporating both conservative and surgical interventions tailored to the underlying cause, is essential for the successful management of cerebrospinal fluid rhinorrhea. [ABSTRACT FROM AUTHOR]

Key Clinical Message: Merkel cell carcinoma (MCC) is a rare and aggressive skin cancer that can be easily misdiagnosed in its early stages. Clinicians should maintain a high index of suspicion for rapidly growing skin lesions in elderly patients and promptly investigate with histopathology and immunohistochemistry. Treatment for MCC should be individualized, considering the patient's age, overall health, and quality of life. Close follow‐up is essential to detect recurrence or metastasis early. [ABSTRACT FROM AUTHOR]

ABSTRACT: Systemic lupus erythematosus (SLE) is a complex and multifaceted autoimmune disease that poses a significant diagnostic challenge for healthcare providers due to its diverse clinical manifestations, lack of specific testing, and potential to mimic other conditions. Delayed diagnosis and misdiagnosis of SLE can have serious consequences for patients, impacting their physical and psychological well-being. The physical consequences of delayed diagnosis and misdiagnosis of SLE are significant. Studies have shown that delays in diagnosis can lead to increased organ damage, poorer health outcomes, and increased morbidity and mortality. With a delayed diagnosis or misdiagnosis, patients may also experience increased psychological symptoms, such as depression, anxiety, and lack of trust in clinicians. The median delay from the first symptom to diagnosis in SLE is 47 months, highlighting the need for early recognition and management. Delayed diagnosis can lead to increased disease progression, which can result in irreversible organ damage and long-term complications. This paper investigates the multifaceted consequences of delayed diagnosis and misdiagnosis of SLE, encompassing both physical and psychological impacts. It delves into the underlying reasons behind diagnostic delays and offers comprehensive strategies for healthcare providers to enhance early recognition and management. Through a thorough analysis of medical literature and statistical data, this paper aims to provide physicians with actionable insights to improve diagnostic accuracy and patient outcomes in SLE. [ABSTRACT FROM AUTHOR]

Aim: The purpose of this study is to report diagnostic pearls and review the clinical presentation and outcomes of surgical treatment of paediatric trigger thumbs. Methods: A retrospective review of medical records and imaging studies was performed on children with trigger thumbs from January 2009 to December 2019. Results: Sixty‐four trigger thumbs in 52 consecutive patients were treated. The average age at referral was 2.5 years. Symptoms include pain (4), triggering (14) and fixed contracture (38). The average symptom duration was 8 months. Forty patients had been evaluated and referred by a paediatrician or primary care doctor. Twenty‐four of the 52 (46%) patients received hand x‐rays and were initially misdiagnosed as a fracture or dislocation. Physical exam demonstrated a volar nodule in 64 thumbs (100%), fixed flexion deformities in 38 (73%) thumbs and triggering with active extension of the interphalangeal joint in 14 (27%) thumbs. The average age at surgery was 3.2 years. Follow‐up averaged 12 months. Surgery resulted in complete relief of symptoms and correction of deformity. There was no reported loss of function or complication. Conclusions: Children with trigger thumbs who ultimately undergo surgery present with distinct physical exam findings, including a volar nodule and a fixed flexion contracture. Understanding these pearls can minimise misdiagnosis of the condition as a fracture or dislocation. Highlighting trigger thumbs during musculoskeletal education for paediatric and primary care physicians is recommended. Surgical outcomes were excellent in patients aged 2–8 years old. [ABSTRACT FROM AUTHOR]

Why you should read this article: • To enhance your understanding of the stigma associated with personality disorders • To find out how the narrative around personality disorders is evolving • To recognise the need for comprehensive staff training and education about personality disorders. Individuals with a personality disorder diagnosis experience high levels of stigma within society generally and healthcare services specifically. This narrative review analyses the recent literature exploring the stigma associated with personality disorders. The findings offer insights into the ongoing contentious nature of personality disorder as a diagnosis, the issues around misdiagnosis and the prevailing attitudes of healthcare professionals. [ABSTRACT FROM AUTHOR]

Purpose of Review: Misdiagnosis of multiple sclerosis (MS) is a prevalent worldwide problem. This review discusses how MS misdiagnosis has evolved over time and focuses on contemporary challenges and potential strategies for its prevention. Recent Findings: Recent studies report cohorts with a range of misdiagnosis between 5 and 18%. Common disorders are frequently misdiagnosed as MS. Overreliance on MRI findings and misapplication of MS diagnostic criteria are often associated with misdiagnosis. Emerging imaging biomarkers, including the central vein sign and paramagnetic rim lesions, may aid diagnostic accuracy when evaluating patients for suspected MS. Summary: MS misdiagnosis can have harmful consequences for patients and healthcare systems. Further research is needed to better understand its causes. Concerted and novel educational efforts to ensure accurate and widespread implementation of MS diagnostic criteria remain an unmet need. The incorporation of diagnostic biomarkers highly specific for MS in the future may prevent misdiagnosis. [ABSTRACT FROM AUTHOR]

Background: Heart failure is a clinical syndrome characterized by decreased cardiac output, leading to systemic organ hypoxia and resulting in dyspnea, pulmonary edema, organ congestion, and pleural effusion. Owing to the diverse clinical manifestations of heart failure, early diagnosis can be challenging, and misdiagnosis may occur occasionally. The use of echocardiography and blood brain natriuretic peptide can aid in obtaining a more accurate diagnosis. Case presentation: This article presents two case reports of patients who were misdiagnosed with acute cholecystitis. Both patients were young Mongolia males (age 26 and 39 years) who presented to the emergency department with acute upper abdominal pain, abdominal ultrasound revealed gallbladder enlargement, and blood tests suggested mild elevation of bilirubin levels. However, despite the absence of procalcitonin and C-reactive protein elevation, the patients were admitted to the general surgical department with a diagnosis of "acute cholecystitis." Both patients were given treatment for cholecystitis, but their vital signs did not improve, while later examinations confirmed heart failure. After treatment with diuretics and cardiac glycosides, both patients' symptoms were relieved. Conclusion: We aim to highlight the clinical manifestations of heart failure and differentiate it from rare conditions such as acute cholecystitis. Physicians should make accurate diagnoses on the basis of physical examinations, laboratory testing and imaging, and surveys while avoiding diagnostic heuristics or mindsets. By sharing these two case reports, we hope to increase awareness to prevent potential complications and improve patient outcomes. [ABSTRACT FROM AUTHOR]

Our goal for medicine is to make zero mistakes, yet the reality is that mistakes are an unfortunate part of medical practice. And when it comes to surgical pathology, it is a special case where the diagnostic "bottom line" is provided starkly and directly for all to see in the final diagnosis of the pathology report. When this diagnosis is wrong, particularly when it has serious adverse consequences for the patient, the resulting physical, mental, and emotional effects on patient, provider, pathologist, and health care system can be extremely serious. Head and neck surgical pathology, based on large second review-type studies, is a subspecialty area with average rates of major diagnostic error, but with potential for severely negative impacts on patients. Studies have shown between 1% and 7% major error rates for head and neck practice. How then, as the pathologist, can we react to and manage things when we have made a serious diagnostic mistake? Through personal experience over more than two decades, the hard-won answer is through extreme ownership and a focus on the needs of the patients, who, in the words of William J. Mayo, should have their "needs come first". The emotional impact on us as pathologists and on the clinicians we work with should also be acknowledged and managed. This article will serve as a thorough and open examination of these mistake scenarios and, focusing specifically on diagnostic errors, serve as a practical guide for what you can do, moving forward, to "make things right" to the best of your ability. [ABSTRACT FROM AUTHOR]

Background: Self-medication has grown increasingly in developing countries, such as India, perhaps causing drug addiction and microbial resistance. Without proper medical supervision, self-medication can cause ineffective or excessive treatment, a delay in treatment, misdiagnosis, resistance to antibiotics, medicine abuse, and an increase in morbidity. Methodology: The population-based crosssectional analytical research done in urban slum. We questioned 400 individuals over the age of 18 at their homes. Data were acquired from individuals using a predesigned, pretested questionnaire as an interview tool. Objective: To determine self medication prevalence and its connection to various demographic risk factors. Results: Self-medication was prevalent, with 51% in selected urban slums. The most commonly self-administered drugs were analgesics (59.8%) and antacids (46.07%). Body discomfort (60.29%), Headaches (55.78%), feverish (53.43%), cough (41.01%), were among the most common conditions when participants used medication on their own. There was a significant relationship with self-prescribed medication use and healthcare professionals in the household (p = 0.00001) and among working participants (p = 0.009). Conclusion: Lower socioeconomic groups often use medications without consulting doctors, and chronic illnesses require continuous follow-up. Education on the dangers of self-medication is crucial. [ABSTRACT FROM AUTHOR]

Aim: This study aimed to analyze the clinical characteristics and outcomes of patients with primary dumbbell chordoma of the cervical spine and to summarize the causes of misdiagnosis. Methods: The clinical data of patients were retrospectively collected. The diagnostic process, surgical procedures, and outcomes were analyzed, then the difference was compared between dumbbell and non‐dumbbell chordomas of the cervical spine. Results: This study included six patients with primary dumbbell chordoma (one male and five females) with a mean age of 32.2 ± 24.5 years (range: 5–61 years). Five cases with no computed tomography (CT) examination before the first operation were misdiagnosed, and on magnetic resonance imaging (MRI), primary dumbbell chordoma showed the following specific features: extensive invasion of the surrounding soft tissues with an obscure boundary (≥5 cm), intervertebral disc sparing, and hemorrhagic necrosis, furthermore, the CT features included atypical destructive vertebral lesions, minimal intralesional calcification, and neural foraminal enlargement. After comparison with non‐dumbbell chordomas, it show statistical difference (p < 0.05) in terms of calcification, foramen enlargement, FNA, misdiagnosis rate but with different recurrent rate. Conclusion: Primary dumbbell chordomas of the cervical spine can easily be misdiagnosed as neurogenic tumors. Preoperative CT‐guided fine‐needle aspiration puncture biopsy helps make an accurate diagnosis. Gross total excision with postoperative radiotherapy has been proven effective in reducing the recurrence rate. [ABSTRACT FROM AUTHOR]

Background: Multiple sclerosis (MS) misdiagnosis is common, and when discovered, frequently leads to substantial disruption to patients' lives and anxiety for clinicians. Our objective was to develop expert consensus‐based guidelines about how to communicate a misdiagnosis of MS to a patient, to reduce the potential for both psychological distress and litigation. Methods: A modified Delphi method using a systematic literature review on doctor and patient experiences of the MS diagnosis communication was used to populate items for a first‐round questionnaire. Our Delphi panel represented three perspectives (clinicians, people with MS, and published experts in health communication), and we recruited 18 panelists in total (6 per perspective). Consensus was defined a priori as 75% of panelists giving an item the same rating. A feedback round was undertaken with six external reviewers, naïve to the guideline development process, and the panelists. Items were reviewed by the study team and synthesized to create the finalized guidelines. Results: Consensus was reached for 45 items rated as "very important" and presented in the feedback round. The study team synthesized the 45 items to 27 items. Ten items related specifically to the communication of the MS misdiagnosis and 17 items to generic guidelines highlighted as important in the MS misdiagnosis appointment. Seven recommendations form the guidelines presented here. Conclusions: Seven consensus‐based recommendations offer guidance to practising neurologists in their communication with patients in a situation that has the potential to be highly distressing, for both clinician and patient. [ABSTRACT FROM AUTHOR]

Background: Diagnostic errors in multiple sclerosis (MS) impact patients and healthcare systems. Objectives: This study aimed to determine the prevalence of MS misdiagnosis and underdiagnosis, time delay in reaching a correct diagnosis and potential impact of sex. Methods: Systematic review and meta-analysis on MS diagnostic errors. Results: Out of 3910 studies, we included 62 for a qualitative synthesis and 24 for meta-analyses. Frequency of misdiagnosis (incorrect assignment of an MS diagnosis) ranged from 5% to 41%, with a pooled proportion based on six studies of 15% (95% CI: 9%–26%, n = 1621). The delay to rectify a misdiagnosis ranged from 0.3 to 15.9 years. Conversely, underdiagnosis (unrecognized diagnosis of MS) ranged from 3% to 58%, with a pooled proportion in four studies of 36% (95% CI: 20%–55%, n = 728). Pooling seven studies comprising 2851 individuals suggested a diagnostic delay to establish a correct MS diagnosis of 17.3 months (95% CI: 11.9–22.7) in patients underdiagnosed. In a meta-analysis of five studies, women were 2.1 times more likely to be misdiagnosed with MS compared to men (odds ratio, 95% CI: 1.53–2.86). Conclusion: This study provides summary-level evidence for the high prevalence of MS misdiagnosis and underdiagnosis. Future studies are needed to understand the causes of these diagnostic challenges in MS care. [ABSTRACT FROM AUTHOR]

Background: Whilst there is a drive to increase diagnosis rates in dementia, there is a lack of attention on getting a correct and timely subtype diagnosis. For people with a rarer subtype of dementia, getting the correct diagnosis, and subsequent care, might be more difficult than for people aged 65+ presenting with the more common symptoms of Alzheimer's disease dementia. Thus, the aim of this mixed‐method systematic review was to synthesise the evidence base on misdiagnosis of dementia. Methods: Misdiagnosis in dementia was defined as either receiving an initial incorrect dementia subtype diagnosis or receiving an incorrect non‐dementia diagnosis. Post‐mortem assessments of subtype diagnosis were excluded. Nine databases were searched in June 2023, with screening of titles and abstracts and consequent full texts completed independently by two researchers. Findings were synthesised using narrative synthesis. Results: Twenty studies were included. Studies were categorised into four themes: (i) Factors associated with delayed diagnosis or misdiagnosis; (ii) Difficulties related to the diagnostic process; (iii) Economic consequences of misdiagnosis; and (iv) Experiences of delayed diagnosis or help‐seeking. People with Lewy Body dementia or behavioural variant fronto‐temporal dementia were found to experience longer diagnosis times and often incorrect initial diagnoses. Whilst evidence is limited regarding the economic impacts, evidence from the US points towards increased economic costs of misdiagnosis. Conclusions: There is an urgent need to investigate the rates and emotional and economic impacts of misdiagnosis on people with dementia, their carers, and the health and social care system. Advancing the evidence base is crucial to reduce misdiagnosis and inform clinical practice. [ABSTRACT FROM AUTHOR]

I argue that the recurring practice of self-diagnosis of psychiatric conditions such as autism spectrum disorder and attention-deficit/hyperactivity disorder on social media platforms poses a threat to personal autonomy understood as self-governance. My main argument is that self-diagnosis conducted without professional expertise is prone to lead to misdiagnosis, which can take the form of a distortion of self-image. This may result in pathologizing normal experiences and behaviors and the adoption of behavioral adjustments that harm those who engage in self-diagnosis. Acknowledging that the surge of self-diagnosis content is a response to inadequacies of mental health care systems in many parts of the world, I argue against prohibiting such content and end with a more modest suggestion of implementing warnings alongside it on social media platforms, as is already common practice for misinformation content on diseases like Covid-19. [ABSTRACT FROM AUTHOR]

Behcet's disease is a chronic polysymptomatic systemic vasculitis disorder of unknown etiology characterized by several clinical manifestations in multiple organ systems. Involvement of the nervous system occurs in ∼9% of patients with Behcet's disease (ranging from 3 to 30%). Neuro-Behcet's disease is a great masquerader of multiple sclerosis. Diagnosing this disorder might be challenging, especially in a patient who does not fulfill the criteria of Behcet's disease while having a neurological presentation. We report a case of neuro-Behcet's disease who was misdiagnosed as having multiple sclerosis for many years and started on unnecessary disease-modifying therapy for multiple sclerosis. A thorough history, physical examination, and systematic investigations are mandatory to differentiate between these two conditions. Our case presentation raises awareness of the importance of differentiating between these two conditions since the consequences of misdiagnosis are catastrophic. The main challenges differentiating between multiple sclerosis and neuro-Behcet's are clinical and paraclinical, including neuroimaging. [ABSTRACT FROM AUTHOR]

Colonoscopy often is recommended after an episode of diverticulitis to exclude missed colorectal cancer (CRC). This is a controversial recommendation based on limited evidence. We estimated the prevalence and odds of CRC and advanced colorectal neoplasia on colonoscopy in patients with diverticulitis compared with CRC screening. Using data from the Gastrointestinal Quality Improvement Consortium registry, we performed a cross-sectional study with patients ≥40 years old undergoing outpatient colonoscopy for an indication of diverticulitis follow-up evaluation or CRC screening. The primary outcome was CRC. The secondary outcome was advanced colorectal neoplasia. Odds ratios (ORs) and 95% CIs were calculated. We identified 4,591,921 outpatient colonoscopies performed for screening and 91,993 colonoscopies for diverticulitis follow-up evaluation. CRC prevalence was 0.33% in colonoscopies for screening and 0.31% in colonoscopies for diverticulitis. Compared with screening, patients with diverticulitis were less likely to have CRC (adjusted OR, 0.84; 95% CI, 0.74–0.94). CRC prevalence decreased to 0.17% in colonoscopies performed for diverticulitis only. Compared with screening, patients with diverticulitis as the only indication were less likely to have CRC (adjusted OR, 0.49; 95% CI, 0.36–0.68). CRC prevalence increased to 1.43% in patients with complicated diverticulitis. Compared with screening, patients with complicated diverticulitis were more likely to have CRC (adjusted OR, 3.57; 95% CI, 1.59–8.01). The risk of CRC cancer is low in most patients with diverticulitis. Patients with complicated diverticulitis are the exception. Our results suggest that colonoscopy to detect missed CRC should include diverticulitis patients with a complication and those not current with CRC screening. [Display omitted] [ABSTRACT FROM AUTHOR]

The patients with unusual symptoms present a diagnostic challenge for clinicians and may lead to misdiagnoses and inappropriate or unnecessary treatments. Endodontic diseases can present with a variety of symptoms, and it is possible for odontogenic pain to resemble non-odontogenic pain, which can complicate treatment due to the distinct management plans of the two conditions. This report details the successful management of vague pain, and popping sensations in the left maxilla triggered by cold exposure. Previous clinicians were unable to identify the pain's origin, leading to unnecessary treatments. A clinical examination, and cone-beam computed tomography evaluation revealed the presence of a missed second mesiobuccal root canal. The canal was located using an operating microscope and ultrasonics. Non-surgical endodontic retreatment was completed in two visits, successfully. This report highlights the critical importance of identifying the diverse symptoms that may arise from endodontic origin, as these can complicate clinical diagnosis. [ABSTRACT FROM AUTHOR]

Systemic lupus erythematosus (SLE) is a complex and multifaceted autoimmune disease that poses a significant diagnostic challenge for healthcare providers due to its diverse clinical manifestations, lack of specific testing, and potential to mimic other conditions. Delayed diagnosis and misdiagnosis of SLE can have serious consequences for patients, impacting their physical and psychological well-being. The physical consequences of delayed diagnosis and misdiagnosis of SLE are significant. Studies have shown that delays in diagnosis can lead to increased organ damage, poorer health outcomes, and increased morbidity and mortality. With a delayed diagnosis or misdiagnosis, patients may also experience increased psychological symptoms, such as depression, anxiety, and lack of trust in clinicians. The median delay from the first symptom to diagnosis in SLE is 47 months, highlighting the need for early recognition and management. Delayed diagnosis can lead to increased disease progression, which can result in irreversible organ damage and long-term complications. This paper investigates the multifaceted consequences of delayed diagnosis and misdiagnosis of SLE, encompassing both physical and psychological impacts. It delves into the underlying reasons behind diagnostic delays and offers comprehensive strategies for healthcare providers to enhance early recognition and management. Through a thorough analysis of medical literature and statistical data, this paper aims to provide physicians with actionable insights to improve diagnostic accuracy and patient outcomes in SLE.

Abstract Background During embryogenesis, the spleen undergoes intricate developmental processes, originating from mesenchymal cells in the dorsal mesentery. An accessory spleen, a common anomaly found in autopsies and abdominal CT scans, can often be mistaken for different types of tumors. To the best of our knowledge, this is the first case in Syria documenting the occurrence of 3 accessory spleens in a patient who had previously undergone splenectomy. Case presentation A 33-year-old male presented with right hypochondrium pain, sharp and radiating to the right flank, exacerbated by movement and large meals. Past medical history included mild Irritable Bowel Syndrome (IBS) and splenectomy due to a traumatic accident in childhood. On admission, vital signs were stable, with abdominal tenderness in the right upper quadrant. Laboratory investigations showed normal values. Ultrasound revealed a lobulated mass at the right adrenal gland (4.5 × 5 cm) with an isoechoic to hypoechoic texture. Multi-slice computed tomography (MSCT) Scan showed multiple nodules in the right adrenal gland, regular in shape, exerting a compressive mass effect, and significant lymphadenopathy around the abdominal aorta. Elevated metanephrine levels raised suspicion of an extra-adrenal pheochromocytoma. Laparoscopic surgery was performed, revealing accessory spleens and normal adrenal tissue with no malignancy. Conclusion Healthcare providers should consider accessory spleens as a differential diagnosis for masses near the adrenal glands. Multiple accessory spleens in the adrenal region can complicate cases. Accessory spleens in uncommon locations like the adrenal glands can be challenging to diagnose and manage.

Abstract Background Cerebrospinal fluid rhinorrhea is a rare condition characterized by the abnormal leakage of cerebrospinal fluid from the intracranial space into the sinonasal cavity. It includes various etiologies, including traumatic, iatrogenic, and spontaneous causes, each with distinct epidemiological and clinical characteristics. Case presentation A 40-year-old Asian female presented with a three-month history of watery discharge from her left nostril and dull headaches localized to the left side of her head. Despite the initial diagnosis of allergic rhinitis, symptoms persisted, leading to further evaluation and eventual diagnosis of cerebrospinal fluid rhinorrhea. Detailed history, physical examination, and diagnostic tests including fluid analysis and imaging confirmed the diagnosis. The patient underwent a successful surgical repair after failed conservative management, highlighting the importance of timely intervention. Conclusion Cerebrospinal fluid rhinorrhea poses significant risks if left untreated, including meningitis. Prompt recognition, accurate diagnosis, and individualized treatment strategies are crucial in mitigating complications and improving patient outcomes. A multidisciplinary approach, incorporating both conservative and surgical interventions tailored to the underlying cause, is essential for the successful management of cerebrospinal fluid rhinorrhea.

Nurlan Yeshniyazov,1,&ast; Igor N Posokhov,1,2,&ast; Vadim V Medovchshikov,1 Gulnara Kurmanalina,1 Aigul Sartayeva3 1Department of Internal Diseases No 2, West Kazakhstan Marat Ospanov Medical University, Aktobe, Kazakhstan; 2Department of Internal Diseases, State Scientific Center of the Russian Federation - Federal Medical Biophysical Center Named After A.I. Burnazyan, Moscow, Russia; 3Department of General Medical Practice No. 2, West Kazakhstan Marat Ospanov Medical University, Aktobe, Kazakhstan&ast;These authors contributed equally to this workCorrespondence: Igor N Posokhov, Department of Internal Diseases, University INO, FMBC named after A.I. Burnazyan, Zhivopisnaya 46, Building 8, Moscow, Russia, Tel +7925646 82818, Email igor@posohov.ruAbstract: The coexistence of heart failure (HF) and type 2 diabetes mellitus (T2DM) is common and poses a serious threat to human health because these diseases have a high degree of commonality at the vascular level. However, the diagnosis of HF in primary care can be challenging, leading to the risk of inadequate management of both conditions. Using two case reports as examples, we attempt to shed light on the issues involved in this challenge. In the first case presentation, a 62-year-old male patient with T2DM and dyspnea was initially diagnosed with HF during primary care. However, further workup revealed that the actual cause of the patient’s breathlessness was the exacerbation of chronic obstructive pulmonary disease. In the second case, a 59-year-old woman with T2DM and obesity complained of leg swelling that was attributed to chronic venous insufficiency by a primary care physician. A correct diagnosis of HF with preserved ejection fraction (HFpEF) was made using N-terminal pro-B-type natriuretic peptide and echocardiography. Due to diabetic vasculopathy HF is more likely to progress with a preserved ejection fraction. In addition, symptoms of COPD or obesity may overlap with or mask symptoms of HFpEF. The issues of over- and misdiagnosis of HFpEF in primary care are discussed in our review, which emphasizes the nonspecific nature of symptoms, such as breathlessness and leg edema in patients with type 2 diabetes mellitus. It is of utmost importance for healthcare providers to be aware of unusual manifestations of heart failure and, vice versa, of diseases that masquerade as heart failure. This will enable them to manage risks in these patients with greater consistency.Keywords: heart failure, type 2 diabetes mellitus, case report, misdiagnosis, primary care, transthoracic echocardiogram, natriuretic peptide, COPD, exertional dyspnea, edema

Background Although the number of case reports on pulmonary infarction (PI) secondary to pulmonary embolism (PE) is increasing in recent years, its misdiagnosis remains common, mainly as pneumonia. In patients with intermediate and high-risk pulmonary embolism, delays in diagnosis and timely treatment would lead to poor prognosis. Objective By analyzing the pneumonia-misdiagnosed cases of patients with PI, we summarized their clinical characteristics and related risk factors, and constructed a multivariate joint model to improve the accurate diagnosis rate at early stage. Methods This retrospective study included the hospitalized patients with pulmonary embolism at the First Affiliated Hospital of USTC from January 2017 to December 2023. In the group of pneumonia-misdiagnosed patients with intermediate to high-risk PI, we analyzed the clinical characteristics and compared the differences between the misdiagnosed groups and control group. Furthermore, using a multivariate Logistic regression analysis, we explored the independent predictive factors of the delayed diagnosis, analyze the predictive value of various indicators for the misdiagnosis by ROC curves, and compared the AUC values using Delong test. Results Among 101 cases of PI patients, 70 of them were misdiagnosed as pneumonia. From 2017 to 2023, the misdiagnosis rate gradually decreased in percentages of 100.0%, 83.3%, 74.1%, 71.4%, 63.2%, 66.7%, and 50.0%, respectively (χ2trend=6.672, P=0.010). Based on the results of multivariate Logistic regression analysis, the characteristics of over sixty-years-old age (OR=18.271, 95%CI=4.373-76.339, P

Abstract Background Heart failure is a clinical syndrome characterized by decreased cardiac output, leading to systemic organ hypoxia and resulting in dyspnea, pulmonary edema, organ congestion, and pleural effusion. Owing to the diverse clinical manifestations of heart failure, early diagnosis can be challenging, and misdiagnosis may occur occasionally. The use of echocardiography and blood brain natriuretic peptide can aid in obtaining a more accurate diagnosis. Case presentation This article presents two case reports of patients who were misdiagnosed with acute cholecystitis. Both patients were young Mongolia males (age 26 and 39 years) who presented to the emergency department with acute upper abdominal pain, abdominal ultrasound revealed gallbladder enlargement, and blood tests suggested mild elevation of bilirubin levels. However, despite the absence of procalcitonin and C-reactive protein elevation, the patients were admitted to the general surgical department with a diagnosis of “acute cholecystitis.” Both patients were given treatment for cholecystitis, but their vital signs did not improve, while later examinations confirmed heart failure. After treatment with diuretics and cardiac glycosides, both patients’ symptoms were relieved. Conclusion We aim to highlight the clinical manifestations of heart failure and differentiate it from rare conditions such as acute cholecystitis. Physicians should make accurate diagnoses on the basis of physical examinations, laboratory testing and imaging, and surveys while avoiding diagnostic heuristics or mindsets. By sharing these two case reports, we hope to increase awareness to prevent potential complications and improve patient outcomes.

Neurocysticercosis (NCC), a parasitic infection of the central nervous system caused by the larval stage of Taenia solium, presents a diagnostic conundrum due to its rare and often nonspecific clinical manifestations. This paper aims to unravel the diagnostic mystery surrounding NCC, shedding light on its epidemiology, pathophysiology, clinical presentation, and the challenges encountered in its diagnosis. Despite being considered a rare disease, NCC is the leading cause of acquired epilepsy worldwide, underscoring its clinical significance. The complexity of NCC diagnosis lies in its diverse clinical presentations, which can range from headaches, dizziness, and seizures to more severe neurological cognitive deficits. This diversity often leads to misdiagnosis. Furthermore, the limitations of current diagnostic methods, including serological tests and neuroimaging, contribute to the diagnostic dilemma. This paper emphasises the need for improved diagnostic criteria and novel diagnostic tools to enable early and accurate detection of NCC. By enhancing our understanding of NCC, we can pave the way for better management strategies, ultimately improving patient outcomes in this under-recognised disease.

Yunyan Zheng,1,&ast; Weiwei Shi,1,2,&ast; Huiying Wang,1 Ruzhi Zhang3 1Department of Dermatology, The Third Affiliated Hospital of Soochow University, Changzhou, People’s Republic of China; 2Department of Dermatology, Affiliated Hospital 2 of Nantong University, Nantong, People’s Republic of China; 3Department of Dermatology, The Second Affiliated Hospital of Wannan Medical College, Wuhu, People’s Republic of China&ast;These authors contributed equally to this workCorrespondence: Ruzhi Zhang, Department of Dermatology, The Second Affiliated Hospital of Wannan Medical College, 10 Kangfu Road, Wuhu, 241000, People’s Republic of China, Email zhangruzhi628@163.comPurpose: This study aimed to improve the understanding of sporotrichosis by analyzing the epidemiological characteristics, clinical manifestations, mycological features, and pathological characteristics of the disease in eastern China.Methods: Clinical data of 49 patients diagnosed with cutaneous sporotrichosis in dermatology clinics over a 20-year period were collected and analyzed retrospectively. The analysis included patient demographics, occupations, clinical types, lesion sites, misdiagnosis rates, laboratory investigations, treatment and outcomes.Results: The study included 22 male and 27 female patients, with a mean age of 52.4 years. Farmers (42.86%) and manual workers (28.57%) had a higher risk of infection. The most common clinical types were lymphocutaneous (30.61%) and fixed (69.39%), predominantly affecting the face and upper limbs. Misdiagnosis as other infectious skin diseases occurred in 35 patients (71.43%). Fungal culture and histopathological examination were important diagnostic tools. Treatment with oral itraconazole for three months led to relief and regression of the skin lesions in most patients, although a few experienced recurrences.Conclusion: Cutaneous sporotrichosis mainly affects individuals working in agriculture and manual labour, with lymphocutaneous and fixed types being the predominant clinical manifestations. The high misdiagnosis rate emphasizes the importance of early recognition, accurate diagnosis and standardized treatment for the prognosis and cure of sporotrichosis. Fungal culture and histopathological examination are essential for diagnosis, and oral itraconazole is an effective treatment option.Keywords: sporotrichosis, cutaneous form, clinical analysis, epidemiology, misdiagnosis

Neurocysticercosis (NCC), a parasitic infection of the central nervous system caused by the larval stage of Taenia solium, presents a diagnostic conundrum due to its rare and often nonspecific clinical manifestations. This paper aims to unravel the diagnostic mystery surrounding NCC, shedding light on its epidemiology, pathophysiology, clinical presentation, and the challenges encountered in its diagnosis. Despite being considered a rare disease, NCC is the leading cause of acquired epilepsy worldwide, underscoring its clinical significance. The complexity of NCC diagnosis lies in its diverse clinical presentations, which can range from headaches, dizziness, and seizures to more severe neurological cognitive deficits. This diversity often leads to misdiagnosis. Furthermore, the limitations of current diagnostic methods, including serological tests and neuroimaging, contribute to the diagnostic dilemma. This paper emphasises the need for improved diagnostic criteria and novel diagnostic tools to enable early and accurate detection of NCC. By enhancing our understanding of NCC, we can pave the way for better management strategies, ultimately improving patient outcomes in this under-recognised disease. [ABSTRACT FROM AUTHOR]

Mental illness is a significant public health concern prevalent in America. Over one in five U.S. adults are affected, yet less than half receive treatment. Among African Americans, only one in three seek treatment with statically lower rates among Black males. Therefore, an accurate diagnosis is crucial for appropriate treatment, while misdiagnosis leads to stigma, discrimination, and untreated illness. This paper examines the implications of misdiagnosing trauma responses in Black men, highlighting systemic biases that impede suitable care and perpetuate negative narratives. The authors propose a conceptual framework incorporating historical trauma, discrimination, and traumatic stress reactions, emphasizing the need for cultural competence and humility. This framework involves public narratives that influence perceptions and judgments, reviewing research evidence, advocating for competent trauma assessments, community empowerment, and future research directions. This paper underscores the importance of understanding and addressing the unique challenges Black men face in mental health diagnosis and treatment. [ABSTRACT FROM AUTHOR]

Studying a patient with Pompe disease (PD) is like opening Pandora's box. The specialist is faced with numerous clinical features similar to those of several diseases, and very often the symptoms are well hidden and none is associated with this rare disease. In recent years, scientific interest in this disease has been growing more and more, but still no symptom is recognized as key to a correct diagnosis of it, nor is there any specific disease marker to date. New diagnostic/therapeutic proposals on disease allow for the diffusion of knowledge of this pathology for timely diagnosis of the patient. Due to unawareness and difficulty in diagnosis, many adults with PD are diagnosed with great delay. In this article, we report and discuss current knowledge of PD and provide new data from work conducted on a cohort of 2934 Italian subjects recruited in recent years. A genetic analysis of the GAA gene was performed on patients with significant clinical signs and pathological enzyme activity to define the genetic profile of subjects. This identified 39 symptomatic PD subjects with low acid alpha-glucosidase enzyme activity and the presence of two causative mutations in GAA gene regions. Furthermore, 22 subjects with genetic variants of uncertain significance (GVUS) were identified. [ABSTRACT FROM AUTHOR]

Objectives: To document the case of a patient who underwent several endodontic treatments due to a glandular odontogenic cyst misdiagnosed as an inflammatory periapical lesion. Background: Glandular odontogenic cysts behave more aggressively, while others have an indolent course. There is limited information on this cyst in the gerodontologic literature. Materials and Methods: A 76‐year‐old male patient presented with an asymptomatic expansive lesion in the anterior mandible resistant to several endodontic treatments. Cone‐beam computed tomography revealed a multilocular osteolytic lesion measuring 6.0 × 4.0 cm, with cortical bone perforation. Results: Histopathological analysis of a biopsy specimen was consistent with glandular odontogenic cyst. The patient underwent marginal mandibulectomy with preservation of the base of the mandible. Conclusion: A strict diagnostic process is important to avoid unwanted consequences, particularly in the geriatric population. [ABSTRACT FROM AUTHOR]

Objective Background Methods Results Conclusion To compare healthcare resource utilization and healthcare costs in patients with migraine with or without a history of misdiagnosis.Despite the high prevalence of migraine, migraine is commonly misdiagnosed. The healthcare resource use and cost burden of a misdiagnosis is unknown.This retrospective cohort study identified adults with an incident migraine diagnosis from the Merative™ Marketscan® Commercial and Medicare Supplemental Databases between June 2018 and 2019. Patients with a diagnosis of commonly considered misdiagnoses (headache, sinusitis, or cervical pain) before their migraine diagnosis were classified as the “misdiagnosed cohort.” Patients in the misdiagnosed cohort were potentially misdiagnosed, then eventually received a correct diagnosis. Patients without a history of commonly considered misdiagnoses prior to their migraine diagnosis were classified as the “correctly diagnosed cohort.” Healthcare resource utilization and healthcare costs were assessed in the period before migraine diagnosis and compared between the cohorts. Outcomes were reported as per patient per month and compared with incidence rate ratios.A total of 29,147 patients comprised the correctly diagnosed cohort and 3841 patients comprised the misdiagnosed cohort and met the inclusion criteria. Patients in the misdiagnosed cohort had statistically significantly higher rates of inpatient admissions (0.02 vs. 0.01, incidence rate ratio [IRR] 1.61, 95% confidence interval [CI] 1.47–1.74), emergency department visits (0.10 vs. 0.05; IRR 1.89, 95% CI 1.79–1.99), neurologist visits (0.12 vs. 0.02; IRR 5.95, 95% CI 5.40–6.57), non‐neurologist outpatient visits (2.64 vs. 1.58; IRR 1.67, 95% CI 1.62–1.72) and prescription fills (2.82 vs. 1.84; IRR 1.53, 95% CI 1.48–1.58) compared to correctly diagnosed patients. Misdiagnosed patients had statistically significantly higher rates of healthcare cost accrual for inpatient admissions ($1362 vs. $518; IRR 2.62, 95% CI 2.50–2.75), emergency department visits ($222 vs. $98; IRR 2.27, 95% CI 2.18–2.36), neurologist visits ($42 vs. $9; IRR 4.39, 95% CI 4.00–4.79), non‐neurologist outpatient visits ($1327 vs. $641; IRR 2.07, 95% CI 1.91–2.24), and prescription fills ($305 vs. $215; IRR 1.41, 95% CI 1.18–1.70) compared to correctly diagnosed patients.Patients with migraine who have a history of misdiagnoses have higher rates of healthcare resource utilization and cost accrual versus those without such history. [ABSTRACT FROM AUTHOR]

Background: Missed early gastric cancer (MEGC) is prevalent during esophagogastroduodenoscopy (EGD), which is the first-line recommended strategy for detecting early gastric cancer (EGC). Hence, we explored the risk factors for MEGC and different types of MEGC, based on the endoscopic resected population. Methods: This retrospective, case–control study was conducted at Nanjing Drum Tower Hospital (NJDTH). We included patients who were diagnosed with EGC during screening EGD, underwent endoscopic resection, and were confirmed by postoperative pathology at the NJDTH from January 2014 to December 2021, and classified them into different types according to the different root causes of misses. Univariable, multivariable, subgroup and propensity score analyses were used to explore the risk factors for MEGC and different types of MEGC. Results: A total of 447 patients, comprising 345 with initially detected early gastric cancer (IDEGC) and 102 with MEGC, were included in this study. Larger size (≥ 1 cm) (OR 0.45, 95% CI 0.27–0.74, P = 0.002) and invasion depth of submucosa (OR 0.26, 95% CI 0.10–0.69, P = 0.007) were negatively associated with MEGC. Use of sedation (OR 0.32, 95% CI 0.20–0.52, P < 0.001) and longer observation time (OR 0.60, 95% CI 0.37–0.96, P = 0.034) exhibited protective effect on MEGC. Conclusions: Smaller and more superficial EGC lesions are more susceptible to misdiagnosis. The use of sedation and prolonged observation time during EGD could help reduce the occurrence of MEGC. [ABSTRACT FROM AUTHOR]

Diagnostic errors are the leading cause of preventable harm in clinical practice. Implementable tools to quantify and target this problem are needed. To address this gap, we aimed to generalize the Symptom-Disease Pair Analysis of Diagnostic Error (SPADE) framework by developing its computable phenotype and then demonstrated how that schema could be applied in multiple clinical contexts. We created an information model for the SPADE processes, then mapped data fields from electronic health records (EHR) and claims data in use to that model to create the SPADE information model (intention) and the SPADE computable phenotype (extension). Later we validated the computable phenotype and tested it in four case studies in three different health systems to demonstrate its utility. We mapped and tested the SPADE computable phenotype in three different sites using four different case studies. We showed that data fields to compute an SPADE base measure are fully available in the EHR Data Warehouse for extraction and can operationalize the SPADE framework from provider and/or insurer perspective, and they could be implemented on numerous health systems for future work in monitor misdiagnosis-related harms. Data for the SPADE base measure is readily available in EHR and administrative claims. The method of data extraction is potentially universally applicable, and the data extracted is conveniently available within a network system. Further study is needed to validate the computable phenotype across different settings with different data infrastructures. [ABSTRACT FROM AUTHOR]

Key Clinical Message: A comprehensive evaluation, including symptoms, medical history, C‐peptide levels, and anti‐GAD antibodies, is essential for distinguishing between diabetes' types, particularly in cases of diagnostic uncertainty. While obesity is often associated with T2DM, BMI should be viewed as a factor rather than a criterion for the exclusion of diabetes type. [ABSTRACT FROM AUTHOR]

Aim: To investigate the incidence rate of urinary tract infections (UTIs) among febrile infants aged ≤60 days before, during, and after the COVID‐19 pandemic. Methods: We conducted a retrospective study in 2 Swedish paediatric emergency departments between 2014 and 2022. We included full‐term infants aged ≤60 days with fever without source. We calculated the annual incidence rate of UTI per 1000 births. Results: We included 1589 full‐term infants with fever without source. In 2020, 89 infants were evaluated in the emergency department versus 203–259 in 2017–2019. In 2020, the incidence rate of UTI was 1.43 per 1000 births/year versus 2.18–2.37 in 2017–2019. The median age, sex, fever duration, and urine testing were similar between the years 2017 and 2020. Conclusion: The number of febrile infants who presented to the paediatric emergency department and the incidence rate of UTIs decreased in 2020. This decrease might imply a systematic misdiagnosis of UTIs in infants with febrile viral infections. A more selective urine testing approach for febrile, previously healthy, infants should be considered to mitigate UTI misdiagnosis and its potential harmful effects. [ABSTRACT FROM AUTHOR]

Objectives: To evaluate the natural history and to highlight the possible masqueraders causing diagnostic delay and iatrogenic interventions in Fibrodysplasia Ossificans Progressiva (FOP). Methods: Patient details with suspected FOP were retrieved from the patient registry from 2012 through 2021. Clinical records, X-rays, clinical photographs, and molecular testing results were captured. Follow-up was recorded where available. Results: A total of 16 patients with a clinical diagnosis of FOP were found. Twelve patients with both clinical and molecular records were included in this study. The median age of onset and diagnosis was 1.5 y and 6.5 y respectively with a median diagnostic delay of 3.5 y. The disease course was progressive in ten patients. Seven out of twelve patients were subjected to invasive procedures due to misdiagnosis, which exacerbated their disease progression. Conclusions: Clinical suspicion followed by molecular testing is straightforward for a confirmed diagnosis of FOP. It is not only diagnostic, cost-effective, and saves time but also avoids unnecessary interventions in these patients. [ABSTRACT FROM AUTHOR]

Background: Multiple sclerosis (MS) shares clinical/radiological features with several monogenic diseases that can mimic MS. Objective: We aimed to determine if exome sequencing can identify monogenic diseases in patients diagnosed with MS according to the McDonald criteria thus uncovering them as being misdiagnosed. Methods: We performed whole exome sequencing in a cohort of 278 patients with MS, clinically or radiologically isolated syndrome without cerebrospinal fluid-specific oligoclonal bands (CSF-OCBs) (n = 228), a positive family history of MS (n = 44), or both (n = 6), thereby focusing on individuals potentially more likely to have underlying monogenic conditions mimicking MS. We prioritized 495 genes associated with monogenic diseases sharing features with MS. Results: A disease-causing variant in NOTCH3 was identified in one patient without CSF-OCBs, no spinal lesions, with non-response to immunotherapy, and a family history of dementia, thereby converting the diagnosis to cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Moreover, 18 patients (6.5% of total) carried variants of unclear significance. Conclusion: Monogenic diseases being misdiagnosed as MS seem rare in patients diagnosed with MS according to the McDonald criteria, even in CSF-OCB negative cases. The detected pathogenic NOTCH3 variant emphasizes CADASIL as a rare differential diagnosis and highlights the relevance of genetic testing in selected MS cases with atypical presentations. [ABSTRACT FROM AUTHOR]

Brachio-cervical inflammatory myopathy (BCIM) is a rare inflammatory myopathy characterized by dysphagia, bilateral upper limb atrophy, limb-girdle muscle weakness, and myositis-specific antibody (MSA) negativity. BCIM has a low incidence and is commonly associated with autoimmune diseases. We present a case report of a 55-year-old man with progressive upper limb weakness and atrophy, diagnosed with flail arm syndrome (FAS). The initial electromyography revealed extensive spontaneous muscle activity and increased duration of motor unit potentials (MUPs). During follow-up, evidence of myogenic damage was observed, as indicated by a decreased duration of MUPs in the right biceps muscle. Laboratory and genetic testing ruled out hereditary or acquired diseases. Negative serological antibodies for myasthenia gravis. Hereditary or acquired diseases were ruled out through laboratory and genetic testing. Whole-body muscle magnetic resonance imaging (MRI) showed extensive edema and fat replacement in the bilateral upper limbs, scapular, and central axis muscles, while the lower extremities were relatively mildly affected. Muscle biopsy revealed numerous foci of inflammatory cells distributed throughout the muscle bundle, with predominant CD20, CD138, and CD68 expression, accompanied by a light infiltration of CD3 and CD4 expression. The muscle weakness improved with the combination of oral prednisone (initially 60 mg/day, tapered) and methotrexate (5 mg/week) treatment. [ABSTRACT FROM AUTHOR]

Malignant histiocytosis is a rare disease, characterised by a proliferation of histiocytes, which is difficult to diagnose and for which there is no standard management. We report a case of secondary malignant histiocytosis with interdigitated dendritic cells, in which diagnostic difficulties led to seven months of misdiagnosis. [ABSTRACT FROM AUTHOR]

Lethal accidents caused by lightning are divided into observed and unobserved events. Pathognomonic or characteristic findings are often overlooked during external postmortem examination. Classical mistakes may be made which may often lead to an incorrect diagnosis. An analysis of 270 fatalities was performed on a historical collection of the Committee for Lightning Conductor Construction for the United Economic Area e. V. (ABBW) on lethal accidents due to lightning that occurred in Germany for the period 1951–1965. Furthermore, a selective literature research was carried out. The aim of the study was to analyze the death scene, the clothing, and the victim. The authors focused on chief findings which were relevant to the correct diagnosis of "death by lightning." Both Lichtenberg figures and singed body hair were considered pathognomonic for a lightning strike. The question arose as to whether Lichtenberg figures, for example, represented the finding that most often led to the correct diagnosis. Of the 270 lightning-struck victims from the case collection, 129 (47.8%) had singed body hair and 25 (9.3%) had Lichtenberg figures. A comparison of the frequency of the two reported findings, singed body hair versus Lichtenberg figures, has only been performed in the literature for case numbers below 40. This study is the first evaluation of a relatively large number of lethal accidents due to lightning. Singed body hair was reported more frequently in lightning-struck victims than Lichtenberg figures. This study showed that singed body hair is probably more diagnostically important than Lichtenberg figures. [ABSTRACT FROM AUTHOR]

Introduction: Recent diagnostic criteria for optic neuritis include T2-hyperintensity of the optic nerve (ON), even without associated contrast enhancement. However, isolated ON-T2-hyperintensity is a nonspecific finding found in any optic neuropathy or severe retinopathy. We applied the 2022 optic neuritis diagnostic criteria to a cohort of patients with noninflammatory optic neuropathy and ON-T2-hyperintensity in at least one eye, to assess the rate of optic neuritis misdiagnosis using these criteria. Methods: Retrospective study of consecutive patients who underwent brain/orbit MRI with/without contrast between 07/01/2019 and 06/30/2022. Patients with ON-T2-hyperintensity in at least one eye were included. The 2022 optic neuritis diagnostic criteria were applied to patients with noninflammatory optic neuropathies who had an ophthalmologic examination available for review. Results: Of 150 patients included, 85/150 had compressive optic neuropathy; 32/150 had glaucoma; 12/150 had papilledema; 8/150 had hereditary (3), radiation-induced (3), nutritional (1), traumatic (1) optic neuropathies (none fulfilled the criteria); 13/150 had ischemic optic neuropathy and 4 fulfilled the criteria as definite optic neuritis due to contrast enhancement of the ON head. Seven additional patients would have satisfied the diagnostic criteria if red flags for alternative diagnoses had been overlooked. Discussion: The application of the 2022 optic neuritis diagnostic criteria in patients with noninflammatory optic neuropathy and ON-T2-hyperintensity in at least one ON resulted in misdiagnosis of optic neuritis in only 4 patients because of ON head enhancement, all with nonarteritic anterior ischemic optic neuropathy. Neuro-ophthalmologic evaluation and exclusion of the ON head as a location in the MRI criteria would have prevented optic neuritis misdiagnosis in our study. [ABSTRACT FROM AUTHOR]

We report two rare cases of femoral neck fracture resulting from osteonecrosis of the femoral head (ONFH) that was undiagnosed at the patients' initial visits. The patient in the first case had sequential bilateral displaced femoral neck fractures. Because no osteonecrosis of the femoral head was visible on X-ray film and the data of liver function tests were normal, ONFH was not diagnosed. In addition, because the patient was a 55-year-old man with normal everyday functioning, closed reduction with cannulated screws was performed at both visits. Nine months later, he came to our outpatient department with bilateral hip pain; X-rays revealed nonunion and implant failure at both hips. The patient subsequently underwent bilateral total hip arthroplasty (THA) and had a satisfactory outcome at his 4-year follow-up. The patient in the second case had a left displaced femoral neck fracture after trivial trauma two months prior. ONFH was not diagnosed upon examination of X-ray findings. The patient was 52 years old with liver cirrhosis and had bipolar hemiarthroplasty performed because of a chronic displaced fracture and poor general condition. After 2 years, she began to have right hip pain. X-rays revealed massive necrosis and sclerosis of the femoral head. Computed tomography scans for ONFH staging revealed impending fracture lines at the subcapital site of the patient's previous left femoral neck fracture. Right THA was then performed, and the outcome was satisfactory. [ABSTRACT FROM AUTHOR]

IntroductionPeople with suspected Alzheimer's disease and related dementias (ADRD) and their families experience a burdensome process while seeking a diagnosis. These challenges are problematic in the most common dementia syndromes, but they can be even more distressing in rarer, atypical syndromes such as rapidly progressive dementias (RPDs), which can be fatal within months from onset. This study is an examination of the diagnostic journey experience from the perspective of caregivers of people who died from the prototypic RPD, sporadic Creutzfeldt-Jakob Disease (sCJD).MethodseIn this mixed-methods study, qualitative data were drawn from interviews with former caregivers of 12 people who died from sCJD. Chart review data were drawn from research and clinical chart data about the person with sCJD. Data were analyzed by a multidisciplinary research team using qualitative and descriptive statistical analysis.ResultsWe identified 4 overarching themes that characterized the experience of the diagnostic journey in sCJD: clinician knowledge, clinician communication, experiences of uncertainty, and the caregiver as advocate. We also identified 4 phases along the diagnostic journey: recognition, the diagnostic workup, diagnosis, and post-diagnosis. Sub-themes within each phase include struggles to recognize what is wrong, complex processes of testing and referrals, delay and disclosure of diagnosis, and access to resources post-diagnosis.ConclusionsFindings suggest that more work is needed to improve clinician diagnostic knowledge and communication practices. Furthermore, caregivers need better support during the diagnostic journey. What we learn from studying sCJD and other RPDs is likely applicable to other more common dementias.

Background: Underdiagnosis of constitutional mismatch repair deficiency (CMMRD) syndrome leads to suboptimal cancer surveillance and management of CMMRD patients. Assessing pitfalls that led to the misdiagnosis of CMMRD is important to improve care trajectories, and to highlight the importance of accurate molecular and pathology-based assessment of patients presenting with CMMRD-associated features. Materials and methods: A retrospective chart review of two patients with molecularly confirmed CMMRD ascertained through the Medical Genetics service of the McGill University Health Centre (MUHC) was conducted to study the pathway and pitfalls to diagnosis. Records were reviewed and summarized as timelines to depict important events relating to diagnosis and management of CMMRD patients. Results: Unfamiliarity with CMMRD contributed to a diagnosis delay and initiation of CMMRD-specific surveillance. Pitfalls along the diagnostic pathway included inaccurate clinical information relayed to pathologists, unfamiliarity with CMMRD-defining features on immunohistochemistry (IHC) analyses, IHC variability and unreliability, and lack of awareness of the pivotal role for medical genetics in the diagnosis of CMMRD. Conclusions: Improved awareness of CMMRD in patients presenting with CMMRD-associated features can help guide IHC analysis and expedite referral to medical genetics for accurate molecular diagnosis. Consequently, timely CMMRD diagnosis improves surveillance and patient management and allows for appropriate genetic counseling for family members.