Initial Diagnoses Research Articles

Ultrasound manifestations and clinical analysis of 50 cases of heterotopic pregnancy.

To investigate the value of ultrasonography in the diagnosis of heterotopic pregnancy and the follow-up. A retrospective analysis of 50 cases of clinically diagnosed heterotopic pregnancy in our hospital was performed, the clinical characteristics and ultrasonographic manifestations of the patients were summarized, the reasons for initial ultrasound missed diagnosis and misdiagnosis were analyzed, and the pregnancy outcomes were followed up. Among the 50 cases, the initial ultrasound diagnoses of intrauterine pregnancy were all gestational sac type, 32 cases of ectopic pregnancy were located in the fallopian tube, and 10 cases were located in the uterine horn, 1 case at cervix, and 1 case at caesarean section scar. Forty-one cases were consistent with surgery and/or pathology, representing initial ultrasound diagnosis coincidence rate of about 82%. Six cases were missed in the initial ultrasound examination (12%), and three cases were misdiagnosed (6%). The maximum diameter of the intrauterine gestational sac was 9-48 mm, the average was about 24.90 ± 9.56 mm, the maximum diameter of the ectopic pregnancy gestational sac or mass was 11-63 mm, and the average was about 31.45 ± 13.82 mm (p < 0.05). Intrauterine pregnancy outcomes were followed up, 45 patients with complete data and 5 patients were lost to follow-up. The follow-up rate was about 90%. Combining the patient's medical history and clinical characteristics can reduce missed diagnosis and misdiagnosis of heterotopic pregnancy. Ultrasonography has important value in the assessment of intrauterine pregnancy growth and development, and the integrity of maternal uterus.

Utilization of Spiking Neural Network (SNN) in X-Ray Image for Lung Disease Detection

The large number of cases of lung disease means that doctors have difficulty in making initial diagnoses, making them prone to misdiagnoses. One type of lung disease that is included in the vulnerable category is pneumonia. Early detection of the condition of the lungs affected by bacterial pneumonia can be carried out by screening using the X-Ray examination modality, namely Digital Radiography (DR). However, in practice, the diagnosis process on Citra DR takes a long time because it requires competent medical personnel (specialists). A system is needed that can help medical personnel to speed up the process of diagnosing lung disease and get accurate results so that misdiagnosis does not occur. The aim of this research is to utilize the Spiking Neural Network (SNN) method for classifying lung disease from DR images. The system was created using MATLAB with the initial step of creating a read data program, namely reading DR image secondary data in .jpg format taken from Kaggle.com. This research uses DR image data totaling 200 images. Next, standardize the size to 50 x 50 pixels. Then segmenting the image divides the gray level histogram into two different parts of the image automatically without requiring user assistance to enter threshold values ​​for normal and pneumonia images. Then convert the image to 1 dimension and create a manual program for the training data using 50 normal images and 50 pneumonia images. Lastly, create a program to test the data using 100 normal images and 100 pneumonia images. Based on the results of data testing, a confusion matrix was obtained from 200 images with sensitivity of 87%, specificity of 69%, precision of 73.7288%, recall of 69%, and accuracy of 78%

Diffuse B-Cell Lymphoma of the Mandible Disguised as Acute Osteomyelitis.

Primary bone lymphoma (PBL) is a rare form of extra nodal non-Hodgkin's lymphoma (NHL). We describe a 39-year-old-male with no medical history who presented with unilateral facial swelling following a tooth extraction. Initial diagnoses after various presentations over the course of three weeks, based on inflammatory and infectious aetiologies. However, the patient was ultimately diagnosed with diffuse large B-cell lymphoma. Symptoms of PBL are very similar to inflammatory and infectious diseases of the bone, such as osteomyelitis or osteonecrosis. Clinical features of PBL involving the head and neck include persistent jaw pain, tooth mobility secondary to extensive destruction of bone, and in advanced cases, lip numbness and swelling. On examination it may present as an exposed necrotic bone with surrounding soft tissue oedema. Misdiagnosis of these lesions as an infectious or inflammatory aetiology may lead to an unnecessary delay in lymphoma treatment, and subsequently worsen the prognosis if caught at a later stage. Therefore, any concerning lesion, especially in the oral cavity, must be subjected to early histopathological evaluation to differentiate PBL from osteomyelitis and/or osteonecrosis. This case report highlights the importance of an early histopathological evaluation to prevent delay in the diagnosis of primary bone lymphomas. Resemblance in symptoms: Primary bone lymphoma (PBL) symptoms overlap with bone infections, necessitating careful consideration and differential diagnosis to prevent misjudgment.Head and neck manifestations: recognising PBL's signs in the head and neck region, such as jaw pain and bone destruction, aids in timely identification and treatment.Timely biopsy significance: swift histopathological assessment for suspicious lesions is critical to avoid delays in diagnosing primary bone lymphomas.

Algorithm for the reconstruction of the parotid region: a single institution experience

ObjectiveThis study aims to discuss the characteristics and treatment methods of malignant tumors in the parotid region, as well as the therapeutic effects of immediate free flap reconstruction of soft tissue for postoperative defects.Materials and methodsA retrospective review was conducted on 11 cases of soft tissue flap reconstruction for postoperative defects following the resection of malignant tumors in the parotid region. Statistical analysis was performed based on clinical data.ResultsAmong the 11 cases of malignant tumors in the parotid region, there were 2 cases of secretory carcinoma (SC) of the salivary gland, 2 cases of squamous cell carcinoma (SCC), 2 cases of carcinosarcoma, 1 case of mucoepidermoid carcinoma (MEC), 1 case of epithelial-myoepithelial carcinoma (EMC), 1 case of salivary duct carcinoma (SDC), 1 case of basal cell carcinoma (BCC), and 1 case of osteosarcoma. Among these cases, 4 were initial diagnoses and 7 were recurrent tumors. The defect repairs involved: 8 cases with anterolateral thigh free flap (ALTF), 2 cases with pectoralis major muscle flaps, and 1 case with forearm flap. The size of the flaps ranged from approximately 1 cm × 3 cm to 7 cm × 15 cm. The recipient vessels included: 4 cases with the facial artery, 4 cases with the superior thyroid artery, and 1 case with the external carotid artery. The ratio of recipient vein anastomosis was: 57% for branches of the internal jugular vein, 29% for the facial vein, and 14% for the external jugular vein. Among the 8 cases that underwent neck lymph node dissection, one case showed lymph node metastasis on pathological examination. In the initial diagnosis cases, 2 cases received postoperative radiotherapy, and 1 case received 125I seed implantation therapeutic treatment after experiencing two recurrences. Postoperative follow-up revealed that 2 cases underwent reoperation due to local tumor recurrence, and there were 2 cases lost to follow-up. The survival outcomes after treatment included: one case of distant metastasis and one case of death from non-cancerous diseases.ConclusionImmediate soft tissue flap reconstruction is an important and valuable option to address postoperative defects in patients afflicted with malignant tumors in the parotid region.

Skin and mucosal lesions in the course of HIV infection

Introduction:&#x0D; Dermatological conditions are prevalent expressions of HIV and AIDS, often aiding in initial diagnoses due to their visibility on the skin and mucous membranes. Given HIV's primary transmission through sexual contact, dermatologists play a crucial role in identifying and managing these infections. Understanding the range of skin and mucosal lesions occurring throughout the course of the disease is vital, particularly as these symptoms can manifest in atypical ways or even precede other signs of immune deficiency. While most associated skin disorders can be treated in outpatient settings, some severe conditions significantly impact health outcomes.&#x0D; Aim of the study:&#x0D; The study aims to consolidate knowledge on the typical manifestations of HIV on the skin and mucous membranes, providing a comprehensive overview of these disease entities. The most common skin and mucosal symptoms associated with HIV infection are summarized and described.&#x0D; Materials and methods:&#x0D; The literature available in the PubMed database was reviewed using the following keywords: “HIV”, “AIDS”, “Skin lesions”, “Mucosal lesions”.&#x0D; Conclusions:&#x0D; Skin conditions are widespread in HIV-infected individuals, often displaying heightened severity compared to the general population. While many of these dermatological issues aren't unique to this group, their manifestations can be more pronounced. HIV-related skin problems vary widely, including specific eruptions linked to AIDS, opportunistic infections, and AIDS-related cancers. Although some HIV-associated skin diseases have decreased due to antiretroviral therapy, there's been a noticeable increase in drug reactions and other non-infectious skin conditions.

Evaluation of a novel augmented reality educational tool and its effects on patient experience: A randomized controlled trial.

Patient education is an essential element of the treatment pathway. Augmented reality (AR), with disease simulations and three-dimensional visuals, offers a developing approach to patient education. We aim to determine whether this tool can increase patient understanding of their disease and post-visit satisfaction in comparison to current standard of care (SOC) educational practices in a randomized control study. Our single-site study consisted of 100 patients with initial diagnoses of kidney masses or stones randomly enrolled in the AR or SOC arm. In the AR arm, a physician used AR software on a tablet to educate the patient. SOC patients were educated through traditional discussion, imaging, and hand-drawn illustrations. Participants completed pre- and post-physician encounter surveys adapted from the Press Ganey® patient questionnaire to assess understanding and satisfaction. Their responses were evaluated in the Readability Studio® and analyzed to quantify rates of improvement in self-reported understanding and satisfaction scores. There was no significant difference in participant education level (P = 0.828) or visit length (27.6 vs. 25.0 min, P = 0.065) between cohorts. Our data indicate that the rate of change in pre- to post-visit self-reported understanding was similar in each arm (P ≥ 0.106 for all responses). The AR arm, however, had significantly higher patient satisfaction scores concerning the educational effectiveness and understanding of images used during the consultation (P < 0.05). While AR did not significantly increase self-reported patient understanding of their disease compared to SOC, this study suggests AR as a potential avenue to increase patient satisfaction with educational tools used during consultations.

The capability of regenerative endodontics to promote the complete root formation in immature permanent teeth with different initial pre-operative conditions.

To describe the potential possibility of complete root formation after regenerative endodontic procedures (REPs) in immature permanent teeth with different initial pre-operative conditions. Children who underwent REPs in the Department of Pediatric Dentistry, Peking University School and Hospital of Stomatology, Beijing, China, from January 2013 to December 2022 were enrolled. Whether the tooth achieved complete root formation was determined using post-operative periapical radiography. The potential possibility of complete root formation after REPs in immature permanent teeth with different initial conditions is discussed. A total of 428 teeth from 401 patients were included, of which 258 (60.2%) achieved complete root formation. In cases that achieved complete root formation, the most serious type of trauma was avulsion, the teeth with the worst initial root development were less than one-third of the development (stages 6-7), and the longest duration of the presence of apical lesions in the tooth before the first visit was more than 180days. There is a significant difference in the root formation of teeth with different initial developmental stages and diagnoses. The active period of continued root formation was 5-21months post-operatively. The higher the initial stage of root development and the shorter the duration of the presence of apical lesions in the tooth before the first visit, the greater the possibility of root formation. However, complete root formation may still be expected after REPs in severely injured immature permanent teeth and teeth with poor initial pre-operative root development conditions (less than stage 7) at the first visit. This is also true for teeth with long-term and large-scale apical lesions.

Brief Report: Comprehensive Clinicogenomic Profiling of Small Cell Transformation From EGFR-Mutant NSCLC Informs Potential Therapeutic Targets

IntroductionNSCLC transformation to SCLC has been best characterized with EGFR-mutant NSCLC, with emerging case reports seen in ALK, RET, and KRAS-altered NSCLC. Previous reports revealed transformed SCLC from EGFR-mutant NSCLC portends very poor prognosis and lack effective treatment. Genomic analyses revealed TP53 and RB1 loss of function increase the risk of SCLC transformation. Little has been reported on the detailed clinicogenomic characteristics and potential therapeutic targets for this patient population. MethodsIn this study, we conducted a single-center retrospective analysis of clinical and genomic characteristics of patients with EGFR-mutant NSCLC transformed to SCLC. Demographic data, treatment course, and clinical molecular testing reports were extracted from electronic medical records. Kaplan-Meier analyses were used to estimate survival outcomes. Next generation sequencing-based assays was used to identify EGFR and co-occurring genetic alterations in tissue or plasma before and after SCLC transformation. Single-cell RNA sequencing (scRNA-seq) was performed on a patient-derived-xenograft model generated from a patient with EGFR-NSCLC transformed SCLC tumor. ResultsA total of 34 patients were identified in our study. Median age at initial diagnosis was 58, and median time to SCLC transformation was 24.2 months. 68% were female and 82% were never smokers. 79% of patients were diagnosed as stage IV disease, and over half had brain metastases at baseline. Median overall survival of the entire cohort was 38.3 months from initial diagnoses and 12.4 months from time of SCLC transformation. Most patients harbored EGFR exon19 deletions as opposed to exon21 L858R alteration. Continuing EGFR tyrosine kinase inhibitor post-transformation did not improve overall survival compared with those patients where tyrosine kinase inhibitor was stopped in our cohort. In the 20 paired pretransformed and post-transformed patient samples, statistically significant enrichment was seen with PIK3CA alterations (p = 0.04) post-transformation. Profiling of longitudinal liquid biopsy samples suggest emergence of SCLC genetic alterations before biopsy-proven SCLC, as shown by increasing variant allele frequency of TP53, RB1, PIK3CA alterations. ScRNA-seq revealed potential therapeutic targets including DLL3, CD276 (B7-H3) and PTK7 were widely expressed in transformed SCLC. ConclusionsSCLC transformation is a potential treatment resistance mechanism in driver-mutant NSCLC. In our cohort of 34 EGFR-mutant NSCLC, poor prognosis was observed after SCLC transformation. Clinicogenomic analyses of paired and longitudinal samples identified genomic alterations emerging post-transformation and scRNA-seq reveal potential therapeutic targets in this population. Further studies are needed to rigorously validate biomarkers and therapeutic targets for this patient population.

Recognizing puzzling PD1 + infiltrates in marginal zone lymphoma by integrating clonal and mutational findings: pitfalls in both nodal and transformed splenic cases

BackgroundA marked increase in PD1-positive TFH cells in nodal MZL cases (NMZL) was reported previously and could prompt suspicion for a diagnosis of peripheral T-cell lymphoma (PTCL), especially angioimmunoblastic T-cell lymphoma (AITL).Case presentationTo demonstrate that the pitfall might exist not only in NMZL but also in transformed splenic MZL (tSMZL), two NMZL cases (70 y/o female with enlarged left cervical lymph node and 75 y/o male with generalized lymphadenopathy) and one case of tSMZL (47 y/o male with nodal and extranodal involvement) with obvious PD1-positive T-cell hyperplasia were described here. Although all their initial diagnoses were prompted to be AITL, they were comprehensively characterized by clinical features, morphologic, immunophenotypic, clonality, and targeted exosome sequencing (TES) findings. Case 1 and Case 2 were NMZL with increased PD1 + T cells in the “peripheral pattern” or “mixed peripheral and central pattern”, and Case 3 was SMZL with abundant PD1-positive T cells in the “nodular pattern” that transformed to tSMZL (DLBCL) with PD1-positive T cells distributed in the “diffuse pattern.” In addition to the monoclonal IG rearrangement and polyclonal TCR rearrangement results, TES demonstrated enriched and recurrent mutations in MZLs and failed to find aberrations described in AITL- or TFH-derived lymphomas.ConclusionsIt is important to realize that this pitfall can also occur in more diagnostically difficult tSMZL cases; the integration of histopathology with clonality and mutation studies is also highlighted.

Patient-reported symptoms and diagnostic journey in Multiple Myeloma.

Late presentation of multiple myeloma (MM) heightens the risk of complication risks, including end-organ damage. This study aimed to: 1) detail the diagnostic journey of MM patients, encompassing symptoms, initial diagnoses, and healthcare professionals met; 2) establish the median duration from symptom onset to MM diagnosis; and 3) examine factors linked to timely MM diagnosis within 12 weeks. A total of 300 adults self-reporting MM were analysed from the Rare and Undiagnosed Diseases cohort Study (RUDY). The RUDY study is a web-based platform, where participants provide dynamic consent and self-report their MM diagnosis and information about their diagnostic journey. This includes the estimated date of initial potential first symptoms, descriptions of these symptoms, the healthcare professionals they consulted, and other diagnoses received before the MM diagnosis. Descriptive statistics, combinatorial analyses and logistic regression analyses were used to describe and examine the diagnostic journey of individuals with MM. Overall, 52% of the participants reported other diagnoses before MM diagnosis, with musculoskeletal disorders (47.8%), such as osteoporosis, costochondritis, or muscle strains, being the most common. The most prevalent initial reported symptom was back pain/vertebral fractures (47%), followed by chest/shoulder pain, including rib pain and fractures (20%), and fatigue/tiredness (19.7%). 40% of participants were diagnosed by direct referral from primary care to haematology without seeing other healthcare professionals whilst 60% consulted additional specialists before diagnosis. The median time from symptom onset to MM diagnosis was 4 months (IQR 2-10 months, range 0-172). Seeing an Allied Healthcare Professional such as a physiotherapist, chiropractor or an osteopath (OR = 0.25, 95% CI [0.12, 0.47], p <0.001), experiencing infection symptoms (OR = 0.32, 95% CI [0.13, 0.76], p = 0.013), and having chest or shoulder pain (OR = 0.45, 95% CI [0.23, 0.86], p = 0.020) were associated with a lower likelihood of being diagnosed with MM within 12 weeks. Older age (OR = 1.04, 95% CI [1.02, 1.07], p = 0.001) was associated with a higher likelihood of diagnosis within 12 weeks. Developing resources for allied health professionals may improve early recognition of MM.

Exploring classical machine learning for identification of pathological lung auscultations

The use of machine learning in biomedical research has surged in recent years thanks to advances in devices and artificial intelligence. Our aim is to expand this body of knowledge by applying machine learning to pulmonary auscultation signals. Despite improvements in digital stethoscopes and attempts to find synergy between them and artificial intelligence, solutions for their use in clinical settings remain scarce. Physicians continue to infer initial diagnoses with less sophisticated means, resulting in low accuracy, leading to suboptimal patient care. To arrive at a correct preliminary diagnosis, the auscultation diagnostics need to be of high accuracy. Due to the large number of auscultations performed, data availability opens up opportunities for more effective sound analysis. In this study, digital 6-channel auscultations of 45 patients were used in various machine learning scenarios, with the aim of distinguishing between normal and abnormal pulmonary sounds. Audio features (such as fundamental frequencies F0-4, loudness, HNR, DFA, as well as descriptive statistics of log energy, RMS and MFCC) were extracted using the Python library Surfboard. Windowing, feature aggregation, and concatenation strategies were used to prepare data for machine learning algorithms in unsupervised (fair-cut forest, outlier forest) and supervised (random forest, regularized logistic regression) settings. The evaluation was carried out using 9-fold stratified cross-validation repeated 30 times. Decision fusion by averaging the outputs for a subject was also tested and found to be helpful. Supervised models showed a consistent advantage over unsupervised ones, with random forest achieving a mean AUC ROC of 0.691 (accuracy 71.11%, Kappa 0.416, F1-score 0.675) in side-based detection and a mean AUC ROC of 0.721 (accuracy 68.89%, Kappa 0.371, F1-score 0.650) in patient-based detection.

Duplex ultrasound and cross-sectional imaging in carotid artery occlusion diagnosis

ObjectiveInvestigations into imaging modalities in the diagnosis of extracranial carotid artery occlusion (CAO) have raised questions about the inter-modality comparability of duplex ultrasound (DUS) and cross-sectional imaging (CSI). This study examines the relationship between DUS and CSI diagnoses of extracranial CAO. MethodsThis single-institution retrospective analysis studied patients with CAO diagnosed by DUS from 2010 to 2021. Patients were identified in our office-based accredited vascular laboratory database. Imaging and clinical data was obtained via our institutional electronic medical record. Primary outcome was discrepancy between DUS and CSI modalities. Secondary outcomes included incidence of stroke and intervention subsequent to CAO diagnosis. ResultsOf our 140-patient cohort, 95 patients (67.9%) had DUS follow-up (mean, 42.7 ± 31.3 months). At index duplex, 68.0% of individuals (n = 51) were asymptomatic. Seventy-five patients (53.6%) had CSI of the carotids after DUS CAO diagnosis; 18 (24%) underwent magnetic resonance imaging and 57 (76%) underwent computed tomography. Indications for CSI included follow-up of DUS findings of carotid stenosis/occlusion (44%), stroke/transient ischemic attack (16%), other symptoms (12%), preoperative evaluation (2.7%), unrelated pathology follow-up (9.3%), and outside institution imaging with unavailable indications (16%). When comparing patients with CSI and those without, there were no differences with regard to symptoms at diagnosis, prior neck interventions, or hypertension. There was a significant difference between cross-sectionally imaged and non-imaged patients in anti-hypertensive medications (72% vs 53.8%; P = .04). Despite initial DUS diagnoses of carotid occlusion, 10 patients (13.3%) ultimately had CSI indicating patent carotids. Four of these 10 patients had stenoses of ∼99% (with 1 string sign), four of 70% to 99%, one of 50% to 69%, and one of less than 50% on CSI. The majority of patients (70%) had CSI within 1 month of the index ultrasound. There were no significant relationships between imaging discrepancies and body mass index, heart failure, upper body edema, carotid artery calcification, and neck hardware. Eight individuals (10.7%) underwent ipsilateral revascularization; 62.5% (n = 5) were carotid endarterectomy procedures, and the remaining three procedures were a transcervical carotid revascularization, subclavian to internal carotid artery bypass, and transfemoral carotid artery stenting. Eight patients (10.7%) underwent contralateral revascularization, with the same distribution of procedures as those ipsilateral to occlusions. Two of the 10 patients with discrepancies underwent carotid endarterectomy, and one underwent carotid stenting. ConclusionsIn our experience, duplex diagnosis of CAO is associated with a greater than 10% discordance when compared with CSI. These patients may benefit from closer surveillance as well as confirmatory computed tomography or magnetic resonance angiography. Further work is needed to determine the optimal diagnostic modality for CAO.

Validity of a Mobile Application to Diagnose Temporomandibular Disorders.

This study aimed to assess the diagnostic accuracy of a mobile application by comparing its diagnoses to those of Orofacial Pain and Oral Medicine specialists and further imaging results (CBCT and MRI) in 500 patients with temporomandibular disorder (TMD). The research focused on three diagnostic categories: the initial specialist diagnoses, the final diagnoses after imaging, and the mobile app's diagnoses. The concordance rates, sensitivities, specificities, and positive predictive values of the diagnoses were examined, with further imaging serving as the gold standard. The mobile app demonstrated a high concordance rate compared to both the final (0.93) and the initial specialists' diagnoses (0.86). The sensitivities, specificities, and positive predictive values also indicated strong reliability, affirming the app's diagnostic validity. Although the concordance rate was slightly lower when comparing the app's diagnoses to the imaging results (CBCT and MRI), the specialists' diagnoses yielded similar results. The study suggests that user-friendly diagnostic mobile applications, based on the diagnostic criteria for TMD, could enhance the clinical management of TMD. Given the reliability of mobile applications for diagnostic purposes, their wider implementation could facilitate the provision of appropriate and timely treatments for patients with TMD.

Neuro-ophthalmological Consultations in the Emergency Department of a Tertiary Referral Emergency Center

Purpose: We report the clinical features, diagnoses, and treatments of patients with neuro-ophthalmological diseases presenting to a tertiary referral center emergency room (ER) of South Korea.Methods: We retrospectively analyzed the medical records of 205 patients who visited the ER of the Asan Medical Center and then were referred to our neuro-ophthalmology department from May 2020 to April 2022. The initial diagnoses of ophthalmology residents were compared to the final diagnoses of neuro-ophthalmologists. We describe the symptoms, diagnoses, and treatments.Results: The median time from the onset of symptoms to the ER visit was 3 days; diplopia (49.1%) and vision loss/a visual field defect (38.9%) were the chief complaints. The most common causes of diplopia were isolated cranial nerve 4 (37.5%), 6 (22.9%), and 3 palsy (18.4%) and supranuclear palsy (9.2%). In patients with vision loss/visual field defect, the most common causes were optic (20.5%), ischemic (17.1%), and compressive (8.0%) optic neuropathies. For 121 cases (59.0%), multidisciplinary consultations with the departments of neurology, neurosurgery, and internal medicine were scheduled. After initial management in the ER, 38 diagnoses (18.5%) changed after evaluation by neuro-ophthalmologists.Conclusions: Over half of all neuro-ophthalmology patients presenting to an ER required comprehensive interdisciplinary evaluation and over a third required inpatient treatment.

Assessment of the Initial Diagnostic Accuracy of a Fragility Fracture of the Sacrum: A Study of 56 Patients.

Retrospective study. To investigate the clinical manifestations of a fragility fracture of the sacrum (FFS) and the factors that may contribute to a misdiagnosis. The number of patients diagnosed with FFS has increased because of extended life expectancy and osteoporosis. Patients with FFS may report nonspecific symptoms, such as back, buttock, groin, and/or leg pain, leading to a misdiagnosis and a delay in definitive diagnosis. Fifty-six patients (13 males and 43 females) with an average age of 80.2±9.2 years admitted to the hospital for FFS between 2006 and 2021 were analyzed retrospectively. The following patient data were collected using medical records: pain regions, a history of trauma, initial diagnoses, and rates of fracture detection using radiography, computed tomography (CT), and magnetic resonance imaging (MRI). Forty-one patients presented with low back and/or buttock pain, nine presented with groin pain, and 17 presented with thigh or leg pain. There was no history of trauma in 18 patients (32%). At the initial visit, 27 patients (48%) were diagnosed with sacral or pelvic fragility fractures. In contrast, 29 patients (52%) were initially misdiagnosed with lumbar spine disease (23 patients), hip joint diseases (three patients), and buttock bruises (three patients). Fracture detection rates for FFS were 2% using radiography, 71% using CT, and 93% using MRI. FFS was diagnosed definitively using an MRI with a coronal short tau inversion recovery (STIR) sequence. Some patients with FFS have leg pain with no history of trauma and are initially misdiagnosed as having lumbar spine disease, hip joint disease, or simple bruises. When these clinical symptoms are reported, we recommend considering FFS as one of the differential diagnoses and performing lumbar or pelvic MRIs, particularly coronal STIR images, to rule out FFS.

A Multicenter Study Validates the WHO 2022 Classification for Conjunctival Melanocytic Intraepithelial Lesions With Clinical and Prognostic Relevance

Several nomenclature and grading systems have been proposed for conjunctival melanocytic intraepithelial lesions (C-MIL). The fourth “WHO Classification of Eye Tumors” (WHO-EYE04) proposed a C-MIL classification, capturing the progression of noninvasive neoplastic melanocytes from low- to high-grade lesions, onto melanoma in situ (MIS), and then to invasive melanoma. This proposal was revised to the WHO-EYE05 C-MIL system, which simplified the high-grade C-MIL, whereby MIS was subsumed into high-grade C-MIL. Our aim was to validate the WHO-EYE05 C-MIL system using digitized images of C-MIL, stained with hematoxylin and eosin and immunohistochemistry. However, C-MIL cases were retrieved from 3 supraregional ocular pathology centers. Adequate conjunctival biopsies were stained with hematoxylin and eosin, Melan-A, SOX10, and PReferentially expressed Antigen in Melanoma. Digitized slides were uploaded on the SmartZoom platform and independently scored by 4 ocular pathologists to obtain a consensus score, before circulating to 14 expert eye pathologists for independent scoring. In total, 105 cases from 97 patients were evaluated. The initial consensus diagnoses using the WHO-EYE04 C-MIL system were as follows: 28 benign conjunctival melanoses, 13 low-grade C-MIL, 37 high-grade C-MIL, and 27 conjunctival MIS. Using this system resulted in 93% of the pathologists showing only fair-to-moderate agreement (kappa statistic) with the consensus score. The WHO-EYE05 C-MIL system (with high-grade C-MIL and MIS combined) improved consistency between pathologists, with the greatest level of agreement being seen with benign melanosis (74.5%) and high-grade C-MIL (85.4%). Lowest agreements remained between pathologists for low-grade C-MIL (38.7%). Regarding WHO-EYE05 C-MIL scoring and clinical outcomes, local recurrences of noninvasive lesions developed in 8% and 34% of the low- and high-grade cases. Invasive melanoma only occurred in 47% of the cases that were assessed as high-grade C-MIL. This extensive international collaborative study is the first to undertake a comprehensive review of the WHO-EYE05 C-MIL scoring system, which showed good interobserver agreement and reproducibility.

GLIOMA-02 HISTOPATHOLOGIC AND MOLECULAR PROFILE OF GLIOMAS: A 9-YEAR RETROSPECTIVE STUDY OF CASES DIAGNOSED IN LAGOS NIGERIA

Abstract BACKGROUND The diagnosis and management of patients with brain tumors currently uses WHO defined morphologic and molecular features. However, neuro-oncology practice in low resource settings relies solely on histomorphology. This study aims to reclassify glioma cases diagnosed in the Department of Anatomic and Molecular Pathology Lagos University Teaching Hospital using the WHO 2021 classification. METHODS Fifty-six cases of glioma diagnosed between 2013 to 2021 were evaluated. Morphologic diagnosis was reassessed. Five-micron sections were obtained for immunohistochemistry (IHC), and genetic testing (DNA and RNA) after manual macrodissection for tumor enrichment used 10-µm sections. IHC for IDH1-R132H, ATRX, BRAF-V600E, p53, Ki67 and H3-K27M and Oncoscan chromosomal microarray analysis were performed. NGS mutation/fusion analysis and EPIC methylation array profiling are in progress. RESULTS Of the 56 cases evaluated, median age was 22 years (range, 1-60); 71% were male. The initial morphologic diagnoses included 21 pilocytic astrocytoma, 11 glioblastoma, 9 ependymoma, 7 diffuse astrocytoma, 3 anaplastic astrocytoma, 2 high-grade gliomas, 1 oligodendroglioma, 1 diffuse midline glioma, and 1 pleomorphic xanthoastrocytoma (PXA). Histomorphologic re-evaluation revealed discordant diagnosis in 29% (16/56) of cases. Of the 56 cases, 73% (41/56) had usable DNA yield and 38% (21/56) had DNA yield of ≥750ng. Chromosomal microarray analysis was completed for 50% (28/56) cases. The revised WHO 2021 diagnosis was: 5 glioblastoma IDH-wildtype, 5 pilocytic astrocytoma, 4 glioma NEC, 3 posterior fossa ependymoma, group B, 3 PXA, 3 astrocytoma IDH-mutant, 2 pediatric low-grade gliomas, 2 supratentorial ependymoma, ZFTA fusion-positive, 1 posterior fossa ependymoma, group A. In 71% (20/28) of cases with molecular testing, diagnosis was revised using WHO 2021 criteria. CONCLUSION Most cases had usable DNA. Overall, histologic re-evaluation and molecular based on the WHO 2021 criteria refined the diagnosis in 48% (27/56) of cases.

No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation

BackgroundDistinguishing congenital pulmonary airway malformations (CPAMs) from pleuropulmonary blastoma (PPB) can be challenging. Previously diagnosed patients with CPAM may have been misdiagnosed and we may have missed DICER1-associated PPBs, a diagnosis with important clinical implications for patients and their families. To gain insight in potential misdiagnoses, we systematically assessed somatic DICER1 gene mutation status in an unselected, retrospective cohort of patients with a CPAM diagnosis. MethodsIn the Amsterdam University Medical Center (the Netherlands), it has been standard policy to resect CPAM lesions. We included all consecutive cases of children (age 0–18 years) with a diagnosis of CPAM between 2007 and 2017 at this center. Clinical and radiographic features were reviewed, and DICER1 gene sequencing was performed on DNA retrieved from CPAM tissue samples. ResultsTwenty-eight patients with a surgically removed CPAM were included. CPAM type 1 and type 2 were the most common subtypes (n = 12 and n = 13). For 21 patients a chest CT scan was available for reassessment by two pediatric radiologists. In 9 patients (9/21, 43%) the CPAM subtype scored by the radiologists did not correspond with the subtype given at pathology assessment. No pathogenic mutations and no copy number variations of the DICER1 gene were found in the DNA extracted from CPAM tissue (0/28). ConclusionsOur findings suggest that the initial CPAM diagnoses were correct. These findings should be validated through larger studies to draw conclusions regarding whether systematic DICER1 genetic testing is required in children with a pathological confirmed diagnosis of CPAM or not. Level of EvidenceLevel IV.

Clinical utility of repeat fetal echocardiography in congenital heart disease.

To investigate the utility of repeat fetal echocardiography (FE) following a diagnosis of structural congenital heart disease (CHD) on the initial FE. We evaluated how often changes in management and counseling occurred based on subsequent FE findings and sought to determine which types of CHD were more likely to have changes in management and/or counseling based on repeat FE. This was a retrospective review of all patients who presented to our center between January 2012 and January 2019 and who had more than one FE performed for structural CHD. We reviewed consultation notes to determine whether management or counseling had changed based on FE findings at follow-up visits. Management variables included a change in location or mode of delivery, plan for atrial septostomy, initiation of prostaglandin infusion, umbilical line placement and planned admission location (nursery vs neonatal intensive care unit). We defined a counseling change as any of the above changes in management as well as any meaningful refinements in the cardiac diagnosis that led to a change in the overall prognosis or future management. Initial diagnoses were grouped into anatomically/hemodynamically relevant subgroups. Fisher's exact test was used to assess the relationship between the initial diagnosis and changes in management. Post-hoc pairwise comparisons were performed using Dunnett's test. Between January 2012 and January 2019, 267 patients underwent 534 follow-up FE assessments performed for structural CHD. Management change based on repeat FE occurred in 41/267 (15.4%) cases. A change in management was associated with the diagnosis made at the initial visit (P < 0.001). The proportion of cases with a management change was highest among those with an initial diagnosis of pulmonary valve abnormality/non-critical pulmonary stenosis (4/11 (36.4%)), followed by balanced atrioventricular canal (AVC) defect (5/17 (29.4%)) and left ventricular outflow tract obstruction/aortic valve abnormality or coarctation/interrupted aortic arch (19/68 (27.9%)). No management change occurred in fetuses diagnosed with isolated ventricular septal defect (VSD), truncus arteriosus, pulmonary vein anomaly or isolated arch sidedness/branching abnormality. Compared to those with a VSD, management was significantly more likely to be changed in fetuses with a balanced AVC defect (P = 0.025) and left heart lesions (P = 0.002). Right heart lesions showed a trend towards an increased incidence of management change (P = 0.05). A counseling change based on repeat FE occurred in 108/267 (40.4%) cases. The proportion of cases with a counseling change was highest among those with an initial diagnosis of pulmonary valve abnormality/non-critical pulmonary stenosis (8/11 (72.7%)) and hypoplastic left heart syndrome/critical aortic stenosis (5/9 (55.6%)). The clinical utility of follow-up FE is associated with the type of CHD diagnosed. Follow-up FE led to changes in management in several types of CHD, most commonly in cases with an initial diagnosis of right and left outflow obstructive lesions and balanced AVC defect. When developing programmatic protocols for the frequency of FE assessments, the type of CHD should be a major determinant, but additional studies are required to reach a consensus on how often serial FE should be performed for each type of CHD. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.

Teledermatology in an emergency department: benefits and gaps

BackgroundTeledermatology has provided new avenues through which dermatologists can provide healthcare. Teledermatology was introduced to the Emergency Department (ED) to enable immediate dermatological consult. We aimed to assess the impact of teledermatology on the management of dermatological conditions by emergency medicine physicians and subsequent health resource utilization.MethodsWe conducted a retrospective review of teledermatology referrals from the ED of our tertiary hospital in Singapore from June 2015 to December 2019. The dermatological conditions, the triaging and treatment recommendations were analyzed. Follow-up plans were recorded.ResultsBetween June 2015 and December 2019, 147 patients were referred from the ED via teledermatology; 11 (7.5%) were admitted, and 136 (92.5%) were recommended to be discharged with a dermatological diagnosis and management plan. If required, a follow-up appointment in the dermatology specialist clinic was arranged. Of the 136 patients who were discharged, 129 (94.9%) patients were provided with outpatient appointment in the dermatology clinic, out of which 110 patients returned for follow-up. 90 (81.8%) patients retained the initial teledermatology diagnoses and 20 (18.2%) patients had their teledermatology diagnoses revised after in-person review.ConclusionsTeledermatology allows for more efficient triaging of patients with dermatological conditions. Reliability between teledermatology and clinic-based examination is good. Patients may be managed mainly in the outpatient setting with appropriate specialty-directed treatment, return advice, and appropriately-triaged follow-up outpatient appointment.