Hidden Inferior Vena Cava Injury: A Case of Missed Diagnosis after Preoperative CT and Laparotomy.

BACKGROUND Inferior vena cava (IVC) injury is a potentially fatal injury with a high mortality rate of 34-70%. In cases in which the patient's condition is stable, diagnosis by computed tomography (CT) is the criterion standard. Findings on CT include retroperitoneal hematoma around the IVC, extravasation of contrast medium, and abnormal morphology of the IVC. We report a case of an IVC injury that could not be diagnosed by preoperative CT examination and could not be immediately detected during laparotomy. CASE REPORT A 73-year-old woman had stabbed herself in the neck and abdomen at home using a knife. When she arrived at our hospital, we found a stab wound several centimeters long on her abdomen and a cut approximately 15 cm long on her neck. We activated the massive transfusion protocol because she was in a condition of hemorrhagic shock. After blood transfusion and blood pressure stabilization, contrast-enhanced computed tomography (CT) revealed a small amount of fluid in the abdominal cavity. An otorhinolaryngologist performed successful drainage and hemostasis, and a laparotomy was performed. Gastric injury and mesentery injury of the transverse colon were identified and repaired with sutures. Subsequent search of the retroperitoneum revealed massive bleeding from an injury to the inferior vena cava (IVC). The IVC was repaired. Postoperative progress was good, and she was discharged from the hospital 65 days after her injuries. CONCLUSIONS We experienced a case of penetrating IVC injury, which is a rare trauma. Occult IVC injury may escape detection by preoperative CT examination or during laparotomy.

ENDOANGEL improves detection of missed colorectal adenomas in second colonoscopy: A retrospective study.

The ENDOANGEL (EN) computer-assisted detection technique has emerged as a promising tool for enhancing the detection rate of colorectal adenomas during colonoscopies. However, its efficacy in identifying missed adenomas during subsequent colonoscopies remains unclear. Thus, we herein aimed to compare the adenoma miss rate (AMR) between EN-assisted and standard colonoscopies. Data from patients who underwent a second colonoscopy (EN-assisted or standard) within 6 months between September 2022 and May 2023 were analyzed. The EN-assisted group exhibited a significantly higher AMR (24.3% vs 11.9%, P = .005) than the standard group. After adjusting for potential confounders, multivariable analysis revealed that the EN-assisted group had a better ability to detect missed adenomas than the standard group (odds ratio = 2.89; 95% confidence interval = 1.14-7.80, P = .029). These findings suggest that EN-assisted colonoscopy represents a valuable advancement in improving AMR compared with standard colonoscopy. The integration of EN-assisted colonoscopy into routine clinical practice may offer significant benefits to patients requiring hospital resection of lesions following adenoma detection during their first colonoscopy.

Poppers maculopathy missed in a patient with cataract highlights the importance of preoperative optical coherence tomography.

Poppers maculopathy is a complication of alkyl nitrate (poppers) inhalation. It presents with non-specific symptoms and variable signs, which can make it difficult to diagnose. We present a case of coexisting cataract and poppers maculopathy in a patient. He had vague visual symptoms that were attributed entirely to his cataract and he went on to have cataract surgery. Suboptimal postoperative visual acuity and normal clinical examination triggered further investigation with spectral-domain optical coherence tomography (SD-OCT), after which poppers maculopathy was diagnosed. We highlight the importance of performing OCT in the preoperative assessment of a cataract patient, especially where the cataract is mild and may not fully account for symptoms. The patient showed complete visual recovery on drug cessation despite ongoing maculopathy on OCT scans.

Postmortem for Intensified Missed Tuberculosis Case Finding in High Human Immunodeficiency Virus and Tuberculosis-burdened Settings in Sub-Saharan Africa among Adults' Population: Systematic Review and Meta-analysis.

Tuberculosis (TB) is the leading infectious cause of mortality in sub-Saharan Africa (SSA); the high prevalence of TB in this region is due to human immunodeficiency virus (HIV)-coinfection. Despite the advent of modalities to diagnose TB, undiagnosed TB-related deaths among HIV-infected patients remain significantly high. This systematic review aims at characterizing missed TB cases from postmortem studies. This review informs on the burden of TB missed diagnosis and highlights the need of improving TB case-finding strategies, especially among the high-risk groups and early TB therapy initiation to keeping in with the World Health Organization's end TB strategy. We searched PubMed, Cochrane, Web of Science, and African journals online for studies that looked into missed TB cases following postmortem using the following key terms: postmortem, TB diagnosis, and HIV; we included cross-sectional and cohorts from 1980 in the English language that were carried out in SSA among adults' population. Authors used the Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines for reporting, the quality of the included studies was assessed using the Newcastle-Ottawa Scale for observational studies, and STATA 17.0 software was used for analysis. This study was registered in the International Prospective Register of Systematic Reviews with registration number CRD42024507515. The combined prevalence of postmortem missed TB diagnosis among the 6025 participants was 27.13% (95% confidence interval [CI] =14.52-41.89), with a high level of heterogeneity at 98.65% (P < 0.001). The prevalence varied significantly across the included studies, ranging from 1.21% (95% CI = 0.93-1.59) in the general population to 66.67% (95% CI = 50.98-79.37) in people living with HIV (PLWHIV). This current literature suggests that SSA is a region with a high prevalence of missed TB cases but with significant variations between countries. In addition, this study confirms a high number of missed TB infections within the PLWHIV. These results highlight the immediate need for targeted screening and diagnosis strategies and relevant policies.

On the Hunt for the Missed Genetic Causes of Multiple Primary Tumors.

Improved cancer screening and treatment programs have led to an increased survivorship of patients with cancer, but consequently also to the rise in number of individuals with multiple primary tumors (MPT). Germline testing is the first approach investigating the cause of MPT, as a positive result provides a diagnosis and proper clinical management to the affected individual and their family. Negative or inconclusive genetic results could suggest non-genetic causes, but are negative genetic results truly negative? Herein, we discuss the potential sources of missed genetic causes and highlight the trove of knowledge MPT can provide. See related article by Borja et al., p. 209.

Can Artificial Intelligence Mitigate Missed Diagnoses by Generating Differential Diagnoses for Neurosurgeons?

BACKGROUND/OBJECTIVE: Neurosurgery emphasizes the criticality of accurate differential diagnoses, with diagnostic delays posing significant health and economic challenges. As large language models (LLMs) emerge as transformative tools in healthcare, this study seeks to elucidate their role in assisting neurosurgeons with the differential diagnosis process, especially during preliminary consultations. METHODS: This study employed 3 chat-based LLMs, ChatGPT (versions 3.5 and 4.0), Perplexity AI, and Bard AI, to evaluate their diagnostic accuracy. Each LLM was prompted using clinical vignettes, and their responses were recorded to generate differential diagnoses for 20 common and uncommon neurosurgical disorders. Disease-specific prompts were crafted using Dynamed, a clinical reference tool. The accuracy of the LLMs was determined based on their ability to identify the target disease within their top differential diagnoses correctly. RESULTS: For the initial differential, ChatGPT 3.5 achieved an accuracy of 52.63%, while ChatGPT 4.0 performed slightly better at 53.68%. Perplexity AI and Bard AI demonstrated 40.00% and 29.47% accuracy, respectively. As the number of considered differentials increased from 2 to 5, ChatGPT 3.5 reached its peak accuracy of 77.89% for the top 5 differentials. Bard AI and Perplexity AI had varied performances, with Bard AI improving in the top 5 differentials at 62.11%. On a disease-specific note, the LLMs excelled in diagnosing conditions like epilepsy and cervical spine stenosis but faced challenges with more complex diseases such as Moyamoya disease and amyotrophic lateral sclerosis. CONCLUSIONS: LLMs showcase the potential to enhance diagnostic accuracy and decrease the incidence of missed diagnoses in neurosurgery.

Is Myocardial Infarction Overdiagnosed?

This Viewpoint examines whether overdiagnosis rather than underdiagnosis may now be the dominant form of myocardial infarction misdiagnosis.

Missed Opportunities to Diagnose and Treat Asymptomatic Hypertension in Emergency Departments in the United States, 2016-2019.

BACKGROUND: Fewer than one-half of U.S. adults with hypertension (HTN) have it controlled and one-third are unaware of their condition. The emergency department (ED) represents a setting to improve HTN control by increasing awareness of asymptomatic hypertension (aHTN) according to the 2013 American College of Emergency Physicians asymptomatic elevated blood pressure clinical policy. OBJECTIVE: The aim of the study was to estimate the prevalence and management of aHTN in U.S. EDs. METHODS: We examined the 2016-2019 National Hospital Ambulatory Medical Care Surveys to provide a more valid estimate of aHTN visits in U.S. EDs. aHTN is defined as adult patients with blood pressure ≥ 160/100 mm Hg at triage and discharge without trauma or signs of end organ damage. We then stratified aHTN into a 160-179/100-109 mm Hg subgroup and > 180/110 mm Hg subgroup and examined diagnosis and treatment outcomes. RESULTS: Approximately 5.9% of total visits between 2016 and 2019 met the definition for aHTN and 74% of patients were discharged home, representing an estimated 26.5 million visits. Among those discharged home, emergency physicians diagnosed 13% (95% CI 10.6-15.8%) and treated aHTN in 3.9% (95% CI 2.8-5.5%) of patients in the higher aHTN subgroup. In the lower aHTN subgroup, diagnosis and treatment decreased to 3.1% (95% CI 2.4-4.1%) and 1.2% (95% CI 0.7-2.0%), respectively. CONCLUSIONS: Millions of ED patients found to have aHTN are discharged home without diagnosis or treatment. Although management practices follow clinical policy to delay treatment of aHTN, there are missed opportunities to diagnosis aHTN.

Periprosthetic fractures are osteoporotic fractures: missed opportunities for osteoporosis diagnosis.

Joint replacement surgery is common in older adults, leading to increasing periprosthetic fracture (PPFx) occurrence. We reviewed all PPFx seen over a 4-year period at an academic hospital. Clinical osteoporosis could be diagnosed based on existing data in 104 (67%) at the time of PPFx. Periprosthetic fractures are generally osteoporosis-related. PURPOSE: Periprosthetic fractures (PPFx) cause morbidity, mortality, and cost. This study's purpose was to describe osteoporosis-related data available at the time of PPFx. METHODS: The electronic medical record (EMR) of PPFx patients seen over 4 years in a university orthopedic practice were reviewed. Demographic data and osteoporosis relevant parameters were collected. Prior DXA studies were reviewed, and L1 Hounsfield unit (HU) measurements were performed on CT scans obtained within 2 years before PPFx. Clinical osteoporosis was defined as prior diagnosis, prescribed osteoporosis treatment, T-score ≤ - 2.5, HU ≤ 100, or prior fracture. RESULTS: Records of 156 PPFx patients (115 F/41 M), mean (SD) age 75.4 (11.9), were reviewed. Almost all 153/156 (98%) of these fractures were femoral. Falls caused 139 (89%); 12 (8%) were spontaneous. Mean time post-arthroplasty was 7.9 (6.3) years. Prior fragility fracture(s) occurred in 72 (46%); 14 were PPFx. Osteoporosis was previously diagnosed in 45 (29%) and medications prescribed in 41 (26%). Prior to PPFx, DXA data were available in 62, mean (SD) lowest T-score was - 1.9 (0.9) and was ≤ - 2.5 in 19. CT data were available in 46; mean (SD) L1 HU was 79.0 (29.4) and was ≤ 100 in 35. Based on existing data, clinical osteoporosis could have been diagnosed in 104 (67%) at the time of PPFx. CONCLUSION: Periprosthetic fractures are osteoporosis-related. They occur in older adults, often female, and result from falls; BMD, when assessed, is low. Data available at the time of PPFx often allows osteoporosis diagnosis; this should prompt evaluation and pharmacologic treatment consideration.

Sacroiliitis in inflammatory bowel disease on abdominal computed tomography: prevalence, misses, and associated factors.

OBJECTIVE: To evaluate the prevalence and rate of a missed diagnosis of sacroiliitis on abdominal computed tomography (CT) in patients with inflammatory bowel disease (IBD). Factors associated with sacroiliitis were also assessed. METHOD: This retrospective study included 210 patients with IBD (mean age 31.1 years) who underwent abdominal CT. Based on a validated abdominal CT scoring tool, bilateral sacroiliac (SI) joints on abdominal CT in the whole study population were retrospectively reviewed. Subsequently, patients were classified into the 'patients with sacroiliitis' group and the 'patients without sacroiliitis' group. Univariate and multivariate regression analyses were used to clarify the factors associated with sacroiliitis. RESULTS: Sacroiliitis was identified in 26 out of 210 patients (12.4%). However, sacroiliitis was recognized on the primary reading in only five of these 26 patients (19.2%) and was missed on the initial report in the remaining 21 patients (80.8%). Among the 21 patients, 20 (95.2%) were finally diagnosed with axial spondyloarthritis (axSpA). There was a higher prevalence of female sex (p = 0.04), upper gastrointestinal involvement (p = 0.04), and back pain (p < 0.01) in patients with sacroiliitis than in those without sacroiliitis. However, on multivariate analysis, back pain was the only factor associated with sacroiliitis (p = 0.01). CONCLUSION: Physicians should carefully evaluate SI joints on abdominal CT in patients with IBD to enable early detection of sacroiliitis, potentially leading to an early diagnosis of axSpA. In addition, if patients with IBD present with back pain, the possibility of sacroiliitis should be considered.

Missed diagnosis-a major barrier to patient access to obesity healthcare in the primary care setting.

OBJECTIVE: To investigate whether individuals with an elevated BMI measurement, for whom a diagnosis of overweight or obesity (OW/OB) is not recorded, are less likely to be offered clinical care for obesity compared to those with a recorded diagnosis. SUBJECTS: A retrospective cohort study using the electronic medical record database of Maccabi Healthcare Services (MHS) in Israel. Included were 200,000 adults with BMI ≥ 25 kg/m2 measurement recorded during a primary care visit between 2014 and 2020, and no prior diagnosis of OW/OB or related co-morbidities. METHODS: The relationships between a recorded diagnosis of OW/OB and two composite outcomes: 1. A composite of referrals to screening tests for metabolic complications; 2. A composite of weight loss intervention and follow up, were analyzed using multivariate logistic regression models. RESULTS: In only 18% of individuals, a diagnosis of OW/OB was recorded. After adjusting for multiple potential confounding factors, individuals who received a recorded diagnosis were 18% more likely to be offered an evaluation for obesity-related metabolic complication, (OR 1.18, 95% CI 1.15-1.21, p < 0.001), and almost twice as likely to be offered intervention and follow up for their excess body weight (OR 1.84, 95% CI 1.76-1.94, p < 0.001) compared to individuals with missed diagnosis. These results persisted after adjusting for inter-physician variability. In addition, male sex, older age, and Arab sector were all associated with lower rates of weight loss intervention and follow up, while young individuals were less likely to be screened for metabolic complications. CONCLUSION: Beyond BMI measurement, a recorded diagnosis of OW/OB is associated with statistically and clinically significant higher rates of performance of obesity care and intervention. Undiagnosed OW/OB presents a significant clinical opportunity, as recording a diagnosis of OW/OB would predict improved patient access to obesity healthcare and improved clinical outcomes.

Pre-Participation Screenings Frequently Miss Occult Cardiovascular Conditions in Apparently Healthy Male Middle-Aged First-Time Marathon Runners.

INTRODUCTION: The optimal pre-participation screening strategy to identify athletes at risk for exercise-induced cardiovascular events is unknown. We therefore aimed to compare the American College of Sports Medicine (ACSM) and European Society of Cardiology (ESC) pre-participation screening strategies against extensive cardiovascular evaluations in identifying high-risk individuals among 35-50-year-old apparently healthy men. METHODS: We applied ACSM and ESC pre-participation screenings to 25 men participating in a study on first-time marathon running. We compared screening outcomes against medical history, physical examination, electrocardiography, blood tests, echocardiography, cardiopulmonary exercise testing, and magnetic resonance imaging. RESULTS: ACSM screening classified all participants as "medical clearance not necessary." ESC screening classified two participants as "high-risk." Extensive cardiovascular evaluations revealed ≥1 minor abnormality and/or cardiovascular condition in 17 participants, including three subjects with mitral regurgitation and one with a small atrial septal defect. Eleven participants had dyslipidaemia, six had hypertension, and two had premature atherosclerosis. Ultimately, three (12%) subjects had a serious cardiovascular condition warranting sports restrictions: aortic aneurysm, hypertrophic cardiomyopathy (HCM), and myocardial fibrosis post-myocarditis. Of these three participants, only one had been identified as "high-risk" by the ESC screening (for dyslipidaemia, not HCM) and none by the ACSM screening. CONCLUSION: Numerous occult cardiovascular conditions are missed when applying current ACSM/ESC screening strategies to apparently healthy middle-aged men engaging in their first high-intensity endurance sports event.

Missing data and missed infections: investigating racial and ethnic disparities in SARS-CoV-2 testing and infection rates in Holyoke, Massachusetts.

Routinely collected testing data have been a vital resource for public health response during the COVID-19 pandemic and have revealed the extent to which Black and Hispanic persons have borne a disproportionate burden of SARS-CoV-2 infections and hospitalizations in the United States. However, missing race and ethnicity data and missed infections due to testing disparities limit the interpretation of testing data and obscure the true toll of the pandemic. We investigated potential bias arising from these 2 types of missing data through a case study carried out in Holyoke, Massachusetts, during the prevaccination phase of the pandemic. First, we estimated SARS-CoV-2 testing and case rates by race and ethnicity, imputing missing data using a joint modeling approach. We then investigated disparities in SARS-CoV-2 reported case rates and missed infections by comparing case rate estimates with estimates derived from a COVID-19 seroprevalence survey. Compared with the non-Hispanic White population, we found that the Hispanic population had similar testing rates (476 tested per 1000 vs 480 per 1000) but twice the case rate (8.1% vs 3.7%). We found evidence of inequitable testing, with a higher rate of missed infections in the Hispanic population than in the non-Hispanic White population (79 infections missed per 1000 vs 60 missed per 1000).

During the COVID-19 pandemic 20 000 prostate cancer diagnoses were missed in England.

OBJECTIVES: To investigate the effect of the COVID-19 pandemic on prostate cancer incidence, prevalence, and mortality in England. PATIENTS AND METHODS: With the approval of NHS England and using the OpenSAFELY-TPP dataset of 24 million patients, we undertook a cohort study of men diagnosed with prostate cancer. We visualised monthly rates in prostate cancer incidence, prevalence, and mortality per 100 000 adult men from January 2015 to July 2023. To assess the effect of the pandemic, we used generalised linear models and the pre-pandemic data to predict the expected rates from March 2020 as if the pandemic had not occurred. The 95% confidence intervals (CIs) of the predicted values were used to estimate the significance of the difference between the predicted and observed rates. RESULTS: In 2020, there was a drop in recorded incidence by 4772 (31%) cases (15 550 vs 20 322; 95% CI 19 241-21 403). In 2021, the incidence started to recover, and the drop was 3148 cases (18%, 17 950 vs 21 098; 95% CI 19 740-22 456). By 2022, the incidence returned to the levels that would be expected. During the pandemic, the age at diagnosis shifted towards older men. In 2020, the average age was 71.6 (95% CI 71.5-71.8) years, in 2021 it was 71.8 (95% CI 71.7-72.0) years as compared to 71.3 (95% CI 71.1-71.4) years in 2019. CONCLUSIONS: Given that our dataset represents 40% of the population, we estimate that proportionally the pandemic led to 20 000 missed prostate cancer diagnoses in England alone. The increase in incidence recorded in 2023 was not enough to account for the missed cases. The prevalence of prostate cancer remained lower throughout the pandemic than expected. As the recovery efforts continue, healthcare should focus on finding the men who were affected. The research should focus on investigating the potential harms to men diagnosed at older age.

A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.

PURPOSE: The 100,000 Genomes Project diagnosed a quarter of affected participants, but 26% of diagnoses were not on the applied gene panel(s); with many being de novo variants. Assessing biallelic variants without a gene panel is more challenging. METHODS: We sought to identify missed biallelic diagnoses using GenePy, which incorporates allele frequency, zygosity, and a user-defined deleterious metric, generating an aggregate GenePy score per gene, per participant. We calculated GenePy scores for 2862 recessive disease genes in 78,216 100,000 Genomes Project participants. For each gene, we ranked participant GenePy scores and scrutinized affected participants without a diagnosis, whose scores ranked among the top 5 for each gene. In cases which participant phenotypes overlapped with the disease gene of interest, we extracted rare variants and applied phase, ClinVar, and ACMG classification. RESULTS: 3184 affected individuals without a molecular diagnosis had a top-5-ranked GenePy score and 682 of 3184 (21%) had phenotypes overlapping with a top-ranking gene. In 122 of 669 (18%) phenotype-matched cases (excluding 13 withdrawn participants), we identified a putative missed diagnosis (2.2% of all undiagnosed participants). A further 334 of 669 (50%) cases have a possible missed diagnosis but require functional validation. CONCLUSION: Applying GenePy at scale has identified 456 potential diagnoses, demonstrating the value of novel diagnostic strategies.

Missed Opportunities in Guideline-Based Fatty Liver Screening Among 3.5 Million Children.

OBJECTIVE: Determine screening rates and examine socio-demographic characteristics of metabolic dysfunction-associated steatotic liver disease (MAFLD) screening in a large population of obese children. METHODS: We used Explorys (IBM) which contains aggregated population-level electronic health record data from approximately 360 hospitals and 317,000 providers across the United States to determine MAFLD screening rates. In children 10 to 14 years, obesity was determined based on body mass index ≥ 95%, or encounter with an international classification of disease obesity code. We determined screening rates by calculating the percentage of children with obesity who had an alanine aminotransferase tested, further analyzed by gender, race, and insurance. RESULTS: Of 3,558,420 children, 513,170 (14.4%) were obese. Of obese children, only 9.3% were screened for MAFLD. Females were more likely screened than males (odds ratio (OR) 1.09 (95% confidence intervals (CI): 1.07-1.12)); White children were more likely screened than non-White children (OR 1.21 (95% CI: 1.18-1.23)), and children with Medicaid more likely screened than children with non-Medicaid insurance (OR 1.34 (95% CI: 1.32-1.37)). CONCLUSIONS: The percentage of obese children receiving screening for MAFLD was low. Female gender, White race, and Medicaid insurance were associated with increased screening rates. These findings highlight the need to increase adherence to MAFLD screening. Reporting screening as a health quality measure may reduce implementation gaps in MAFLD screening.

Patient perspectives on barriers to obtaining surgery for primary hyperparathyroidism: A qualitative review.

BACKGROUND: The purpose of this study was to qualitatively explore patient-reported barriers to surgery for primary hyperparathyroidism (PHPT) and identify actionable interventions to improve access to surgical care. METHODS: We recruited forty-nine patients in an endocrine surgery clinic at a large, academic medical to participate in an 11- question phone interview. All interviewees underwent parathyroidectomy for primary hyperparathyroidism. Responses were recorded and a codebook of qualitative themes, blinded to patient race and sex, was created by 3 independent reviewers. Comments were subsequently sorted into the codebook with patient demographic information. RESULTS: Patients that experienced delays in parathyroidectomy most commonly cited "issues with the referral process" and "missed diagnosis" as the cause. Patients were asked to identify the most challenging part about the surgery process. Commonly evoked themes among patients of both races and sexes included "transportation" and "financial" with subthemes of "no ride," "distance from surgeon," "insurance," and "difficulty taking time off work." Patients were asked to name actionable interventions to improve access to surgical care. The most commonly evoked theme involved "support systems," with subthemes of "transportation assistance," "financial," and "patient advocacy." Physician factors were also commonly evoked among patients of both races with subthemes of "knowledge", "communication," and "listening." CONCLUSION: PHPT patients cited multiple barriers to undergoing surgery. Future work can focus on examining these questions with a larger patient cohort and examining delays at the referral and diagnosis stage, which was most commonly cited by our respondents.

Missed diagnosis of Fabry disease: should we screen patients with multiple sclerosis?

INTRODUCTION: Fabry disease (FD) can be undiagnosed in the context of multiple sclerosis (MS) due to similar clinical and paraclinical features. Our study aimed to determine the prevalence (and the necessity of screening) of FD among patients with possible or definite MS. METHODS: In this prospective monocentric observational study, we included consecutive patients enrolled between May 2017 and May 2019 after the first clinical event suggestive of MS. All patients underwent FD screening using dried blood spots in a stepwise manner combining genetic and enzyme testing. Patients were followed until May 2022. RESULTS: We included 160 patients (73.1% female, mean age 33.9 years). The 2017 revised McDonald's criteria for definite MS were fulfilled by 74 (46.3%) patients at the time of study recruitment and 89 (55.6%) patients after 3-5 years of follow-up. None of the patients had a pathogenic GLA variant, and four (2.5%) had a variant of unknown significance (p.A143T, p.S126G, 2 × p.D313Y). In two of these patients, the intrathecal synthesis of oligoclonal bands was absent, and none had hyperproteinorachia or pleocytosis in cerebrospinal fluid. Detailed examination of FD organ manifestations revealed only discrete ocular and kidney involvement in two patients. CONCLUSION: The prevalence of FD in the population of suspected or definite MS patients does not appear to be high. Our results do not support routine FD screening in all patients with a possible diagnosis of MS, but there is an urgent need to search for red flags and include FD in the differential diagnosis of MS.

Pharyngo-tonsillar involvement of Mpox in a cohort of men who have sex with men (MSM): A serious risk of missing diagnosis.

During the 2022-outbreak, peculiar clinical presentations of Mpox have been described, some of which can make the diagnosis of the disease extremely challenging. Here we report a case series of fourteen patients with Mpox pharynogotonsillar involvement (PTI) seen at National Institute for Infectious Diseases, "Lazzaro Spallanzani", in Rome, Italy from May to September 2022. All included patients were men who have sex with men (median age 38 years) reporting unprotected sex within three weeks from symptoms onset. Seven out of fourteen patients needed hospitalization due to uncontrolled pain, reduced airspace and difficulty swallowing, of whom five were effectively treated with tecovirimat or cidofovir. The remaining two patients were treated with symptomatic drugs. The typical Mpox muco-cutaneous manifestations were not observed simultaneously with PTI in three patients, two of whom developed the lesions after several days, while one never manifested them. Polymerase Chain Reaction (PCR) for Mpox virus was positive in oropharyngeal swab, saliva and serum. Although PTI occurs in only a small percentage of Mpox cases, its diagnosis is of utmost importance. In fact, this localization, if not identified, could lead to serious complications in the absence of early antiviral treatment and to missed diagnosis with an increased risk of disease transmission.