Differential Diagnosis Research Articles

A case of early childhood caries from a Medieval site in Southern Portugal: a multidisciplinary approach.

Dental caries is the most prevalent chronic infectious disease during childhood both in historical and contemporary times, but research focused on the oral health of non-adults from the past is still scant. As such, this study proposes a multidisciplinary approach to the differential diagnosis of severe dental lesions in a medieval non-adult skeleton. The skeleton of a three-year-old child recovered in the medieval necropolis of Cacela Velha (Portugal) was studied through macroscopic, radiological, elemental and stable isotope analyses. This individual exhibited enamel destruction and dentine exposure in both the maxillary and mandibular teeth, with the latter also showing changes in coloration. Elemental analysis showed that his skull presented lower values of Si, Cl, and Ca and higher of Cu compared to the control, while the concentration of P and S were significantly lower in the teeth. Early childhood caries is the most probable diagnosis for the dental lesions observed, apparently stemming from a reticulate of factors that include potential malnutrition, and the consumption of sugars in complementary feeding - even though historical sources point to the scarcity of sugar in Portugal during most of the Middle Ages.

Chinese expert consensus on the pathological diagnosis of interstitial lung disease with transbronchial lung cryobiopsy specimens

Transbronchial lung cryobiopsy (TBLC) is an applicable technique that can provide a histologic diagnosis of interstitial lung disease(ILD). The general sample size of TBLC is much smaller than that of surgical lung biopsy (SLB), which raises more concerns about the procedure's diagnostic accuracy. A guiding consensus and guidelines on the pathological procedure of ILD with TBLC are required to better guide pathologists in diagnostic practice. The Respiratory Pathology Working Group of the Respiratory Physicians Branch of the Chinese Medical Doctor Association and the Thoracic Diseases Group of the Pathological Branch of the Chinese Medical Association, jointly organized by experts, have worked together to discuss and formulated the consensus. The consensus is based on literature review, clinical practice, collection of clinical issues, and discussion during a series of meetings. Experts approved the final proposed consensus with more than 70% of votes in favor (Delphi). The consensus summarized the delivery requirements, quality evaluation and artificial phenomena of TBLC specimens. It also proposed the diagnostic principles and procedures, types of ILD corresponding to major pathological changes, and major corresponding differential diagnoses of TBLC specimens. Finally, the consensus formed 14 recommendations for clinical diagnosis and multidisciplinary discussion.The recommendations are addressed as follows.Recommendation 1: We suggest that the TBLC clinical manipulators should observe and measure the size of the specimen in time. The specimen size should be greater than 5 mm in diameter, and multiple pieces(3 to 5 pieces)are recommended.Recommendation 2: Pathologists should record the number of blocks of tissue submitted for examination and the volume, color, and texture of each specimen. Evaluation of the proportion of alveolar parenchyma/airway components under the microscope, analysis of the type and distribution of lesions will facilitate making diagnostic suggestions.Recommendation 3: The size of TBLC specimens is significantly smaller than SLB and may not show sufficient features of ILD or secondary changes. It is more necessary to combine the evaluation of clinical changes and lesion distribution assessed by HRCT for a comprehensive diagnosis.Recommendation 4: Common microscopic artefacts of TBLC specimen are mass of red blood cells, proteinaceous fluid and fibrin exudation. In the absence of hemosiderin cells or clinical signs of hemoptysis symptoms, the diagnosis of pulmonary hemorrhagic disease should be considered with caution.Recommendation 5: TBLC is not a suggested diagnosis when the pathological changes are mainly located in the pleural or subpleural lung tissues, e.g., pleuroparenchymal fibroelastosis.Recommendation 6: The principle of pathological diagnosis of ILD in TBLC is consistent with SLB, with a description of the main pathological morphological change and a tendentious pathological diagnosis; if the lesion is not fully shown, only a pathological description is given.Recommendation 7: A well-sampled TBLC specimen may show patchy fibrosis and fibroblast foci in UIP, supporting a pathological diagnosis of a probable UIP pattern. TBLC may not display sufficient features of the distribution of subpleural and peripheral lung lesions in UIP, as well as secondary lesions.Recommendation 8: TBLC specimens show diffuse inflammation and fibrosis with well-preserved lung tissue structure, which may support a pathological diagnosis of NSIP; if the distribution of lesions and lung tissue structure are difficult to evaluate, it is recommended that a pathological diagnosis of fibrotic ILD or cellular ILD be made.Recommendation 9: TBLC specimens may show pathological features of NSIP accompanied by organization, but it is difficult to accurately evaluate the proportion of organization area. In this scenario, a descriptive diagnosis of NSIP accompanied by organization is suggested.Recommendation 10: It is recommended to diagnose organizing pneumonia if only distal airway organization is present in TBLC; in addition to organization, if pathological histology is accompanied by obvious interstitial fibrosis and lung tissue remodelling, granuloma formation, obvious neutrophil infiltration or accompanied with abscess formation, obvious eosinophil infiltration, tissue necrosis, hyaline membrane formation or vasculitis, secondary OP should be considered.Recommendation 11: It is recommended to diagnose acute fibrinous and organizing pneumonia (AFOP) if lesions on TBLC show features of organizing pneumonia and fibrin balls.Recommendation 12: A diagnosis of smoking-related ILD (RB-ILD or DIP) is suggested when a good sampling of TBLC shows a significant accumulation of histocytes or smoker's macrophages in the alveolar spaces, and without specific changes sufficient for other diagnoses. If the lesions are confined to the lumen of respiratory bronchioles and the immediate peribronchiolar airspaces, RB-ILD is supported; if the distribution is diffuse, DIP should be considered. If it is difficult to determine the distribution of the lesions, it is necessary to integrate clinical and chest CT imaging findings to differentiate RB-ILD from DIP.Recommendation 13: A well-sampled TBLC specimen can display the pathological features of DAD and then also support such a pathological diagnosis.Recommendation 14: Lymphoid interstitial pneumonia (LIP) should show diffuse lymphocyte infiltration and lymphoid follicle formation in the lung interstitium in TBLC specimens. It is recommended that chest CT imaging be combined to determine whether the lesion is diffuse to differentiate from other lymphoproliferative diseases.

ДИФФЕРЕНЦИАЛЬНАЯ ДИАГНОСТИКА БОЛЕЗНИ БЛАУНТА: КЛИНИЧЕСКОЕ НАБЛЮДЕНИЕ

Lower extremities deformation is observed quite often in infants. One of the Blount's disease diagnosis features is the difficulty of its differential diagnosis of when excluded from other conditions such as rickets, rickets-like diseases and physiological curvature of the lower extremities in infants. Article represents the main diagnostic criteria for the abovementioned diseases. A clinical case of a patient with Blount's disease who had deviations in calcium-phosphorus metabolism that in their turn are uncommon for this pathology is described. The entire set of clinical and laboratory signs analysis was carried out in details, which then made it possible to carry out a differential diagnosis and exclude hereditary forms of rickets, primarily hypophosphatemic rickets as the reason for pronounced varus deformity of the legs in a 2.5 y/o pediatric patient. The tactics for further treatment by a specialized practitioner had been determined as well.

Частота выявления и структура глютензависимых заболеваний среди гастроэнтерологических пациентов детского возраста Республики Узбекистан (когортное проспективное исследование)

Gluten-related disorders (GRDs) are characterized by different pathogenetic development pathways though are having similar clinical manifestations that make its differential diagnosis rather difficult. In the bibliographical sources available currently there were no research works such as a one-time study of the GRDs’ incidence among children. The purpose of this research was to determine the incidence and clinical and laboratory features of celiac disease (CeD), wheat allergy (WA) and non-celiac gluten sensitivity (NCGS) among children with gastroenterological complaints residing in Uzbekistan. Materials and methods used: a single-center cohort prospective study had been carried out in 2021-2022 on the basis of the Uzbekistan Republican Specialized Scientific and Practical Medical Center for Pediatrics of the Ministry of Healthcare of Uzbekistan (Tashkent, Uzbekistan) with 336 children with suspected gluten intolerance aged from 1 to 16 y/o who participated in the study. At the first stage 206 were selected after a short questionnaire developed by the Authors. For the following stage the specific laboratory tests were performed as follows: determination of antibodies (AT) to tissue transglutaminase IgA and total IgA (AT to tissue transglutaminase IgG, total IgG and IgM in IgA deficiency cases), total and specific IgE levels to wheat and gluten, HLA class II genotyping, histological examination of a biopsy specimen of the mucous membrane of the subbulbic part of the duodenum based on indications. The Salerno criteria were used to confirm the NCGS diagnosis. Results: the GRDs incidence among the studied cohort was 17.5% (95% CI: 12.29; 22.6), of which 5.3% (95% CI: 2.27; 8.41) had CeD, 7,3% (95% CI: 3.73; 10.83) had WA and 4.9% (95% CI: 1.92; 7.89) were diagnosed with NCGS. The most significant symptoms in children with GRDs were bloating, diarrhea and abdominal pain. The leading symptom for NCGS was headache. Allergic pinpoint rash with scratching traces were detected in patients with WA. Conclusion: this research was the first to study the GRDs incidence in Central Asia and it had showed that CeD and WA are pretty common among children with gastroenterological complaints in Uzbekistan and that the NCGS incidence does correspond to the average statistical data published priorly.

Клинико-генетическая характеристика детей с подозрением на наследственные заболевания печени. Алгоритм дифференциальной диагностики

Hepatitides of unspecified etiology in children may be caused by genetic disorders. Its early detection can improve the patient management with understanding the pathogenesis, more accurately predicting the course, preventive examinations and prescribing specialized pathogenetic therapy in selected cases. However, currently there are no guidelines for the optimal diagnosis of such cases. The purpose of this research was to develop an algorithm for the differential diagnosis of hepatitides of unspecified etiology in children based on the identified clinical and genetic features of hereditary liver diseases. Materials and methods used: a single-center cohort retrospective study of 179 children with hepatitides of unspecified etiology aged 0 to 18 y/o was conducted. All patients had undergone genetic examination, based on the results of which the two groups were formed as follows: with and without genetic liver disease. Statistical analysis of the patients’ clinical, laboratory and instrumental examinations was aimed at identifying key markers for common hereditary liver diseases in different age groups as well as statistically significant differences in rare genetic reasons for hepatitis. Results: 27 different genetic liver diseases were identified in 101 (56.4%) with hepatitis of unspecified etiology. The most frequently detected diseases were Wilson's disease (41 or 40.6%), alpha-1 antitrypsin deficiency (A1AD or AATD) (9 or 8.9%) and Alagille syndrome (ALGS) (8 or 7.9%). Other hereditary pathologies occurred in isolated cases though its total incidence was nearly half of all cases (43 or 42.6%). In order to identify such cases, it is advisable to perform exome sequencing. In order to determine the indications for genetic examination, Authors have developed the mathematical model for assessing the risk of hereditary liver disease (ROC-AUC 0.787 with 95% CI: 0.696-0.877, sensitivity 69.8% with 95% CI: 57.7%-81.3%, specificity 79.2% with 95% CI: 72.3%-84.8%). Conclusion: Authors offer the suggested algorithm for differential diagnosis of hepatitides of unspecified etiology in children that includes, on the first place, the exclusion of the most common genetic liver diseases followed by exome sequencing in high-risk cases that in its turn is calculated using the developed mathematical model.

СИНДРОМ ДЕФИЦИТА ВНИМАНИЯ С ГИПЕРАКТИВНОСТЬЮ В ПЕДИАТРИЧЕСКОЙ ПРАКТИКЕ

Attention deficit hyperactivity disorder (ADHD) is one of the most widespread forms of neurodevelopmental disorders. Modern clinical criteria for the ADHD diagnosis, issues of differential diagnosis in the pediatric practitioner’s routine (with asthenic syndrome in somatic diseases, primary sleep disorders, fetal alcohol syndrome, thyroid diseases) are described in the Article. The data of recent studies on the ADHD pathogenesis mechanisms are discussed as well. ADHD requires comprehensive treatment approach. The results of a multicenter randomized double-blind placebo-controlled clinical trial on the efficiency and safety of the new domestically produced medication, “Prospecta,” in the treatment of ADHD in children are presented.

Common issues and solutions in intraoperative frozen pathological diagnosis of small pulmonary nodules

With the development of chest CT screening, surgically resected lung tumors have shifted from predominantly large masses to predominantly small nodules. The intraoperative frozen diagnosis of pulmonary small nodules faces many challenges, such as the accurate understanding about the concepts of adenocarcinoma in situ, minimally invasive adenocarcinoma and lepidic adenocarcinoma, as well as their differential diagnosis with small size invasive adenocarcinoma, benign tumors (such as bronchiolar adenoma, sclerosing pneumocytoma, etc.), metastatic tumors and so on. This study summarizes some common problems encountered in the intraoperative frozen diagnosis of small pulmonary nodules in daily practice, focusing on the diagnosis and differential diagnosis of adenocarcinoma, in order to make the accurate intraoperative frozen diagnosis of small pulmonary nodules and diminish misdiagnosis.

Isolated intraductal carcinoma of the prostate: a clinicopathological and molecular analysis

Objective: To study the clinicopathological features, immunohistochemical phenotypes, molecular changes, differential diagnosis and prognosis of isolated intraductal carcinoma of the prostate (iIDC-P). Methods: Three iIDC-P cases were collected retrospectively from 2016 to 2022 at Ningbo Clinical Pathology Diagnosis Center, Ningbo, China. The clinicopathologic features and immunophenotypic profiles were studied using light microscopy and immunohistochemistry. A targeted next-generation sequencing panel was used to analyze cancer-associated mutations. Follow-up and literature review were also performed. Results: The patients' ages were 61, 67 and 77 years, and their preoperative prostate specific antigen (PSA) levels were 7.99, 7.99 and 4.86 μg/L, respectively. Case 1 and 2 were diagnosed on needle biopsy and radical prostatectomy (RP) specimens, and case 3 was diagnosed on a specimen of transurethral resection of the prostate (TURP). The RP specimen was entirely submitted for histologic examination. In the case 1, iIDC-P was found in one tissue core (involving two ducts) in the biopsy specimen, and in 6 sections (diameter, 0.3-1.1 cm) from the radical prostatectomy specimen, and one section had separate foci of low-grade acinar adenocarcinoma (diameter, 0.05 cm). In the case 2, 6 tissue sections from the biopsy specimens showed iIDC-P, and 13 sections from RP specimen showed iIDC-P (diameter, 0.5-1.6 cm), and the other 3 sections had separate low grade acinar adenocarcinoma (diameter, 0.6 cm). In the case 3, 5 tissue blocks from the TURP specimen showed iIDC-P. The case 1 and 2 showed solid architecture with expansile proliferation of neoplastic cells in native ducts and acini. The case 3 showed dense or loose cribriform pattern, with marked cytological atypia, and frequent mitotic figures. Comedonecrosis was found in solid or dense cribriform glands in the case 2. Immunohistochemically, surrounding basal cells were highlighted using high-molecular-weight cytokeratin (34βE12 and CK5/6) and p63, while P504s was positive in the tumor cells. The tumor cells were also positive for AR and prostate markers (NKX3.1, PSA and PSAP), and negative for GATA3. The iIDC-P and acinar adenocarcinoma both showed weak PTEN expression and no ERG (nuclear) expression. In case 2 and 3, targeted sequencing revealed activated oncogenic driver mutations in MAPK and PI3K pathway genes (KRAS, MTOR and PTEN). In addition, pathogenic mutation in TP53 and FOXA1 mutation were found in the case 2 and 3, respectively. No case demonstrated TMPRSS2::ERG translocation. All cases were microsatellite stable and had lower tumor mutation burdens (range, 2.1-3.1 muts/Mb). The patients showed no biochemical recurrence or metastasis after follow-up of 16-91 months. Conclusions: iIDC-P is a special type of intraductal carcinoma of the prostate and differs from intraductal carcinoma within high-grade prostate cancer. iIDC-P has unique molecular characteristics and may represent as a molecularly unique in situ tumor of prostate cancer.

On a new species, Syzeuctus jordanicus sp. n., from the Middle East (Hymenoptera: Ichneumonidae)

A new species of the Ichneumonidae, subfamily Banchinae, Syzeuctus jordanicus sp. n., is described from Jordan. Within the genus Syzeuctus Förster, the new species is characterized by its slender tergites, absence of posterior transverse carina of propodeum, long ovipositor, largely reddish mesosoma and legs and extended black colouration of the metasoma. A differential diagnosis, detailed description and illustrations of the main characters are given for this new species. http://www.zoobank.org/urn:lsid:zoobank.org:pub:E9315C0A-2668-4793-9B1B-1094C44FD1ED

Swyer–James–Macleod syndrome mimicking pulmonary embolism in adults: a case report

BackgroundSwyer–James–MacLeod syndrome (SJMS) is a rare lung condition characterized by a unilateral lung hyperlucency and reduction in the pulmonary vasculature, with or without the presence of bronchiectasis. In the 1950s, Swyer, James, and Macleod simultaneously characterized the syndrome for the first time. It is typically diagnosed in childhood. Adult-onset cases are extremely rare, with little literature available on its clinical presentation and diagnostic challenges. Swyer–James–MacLeod syndrome can mimic other lung disorders, resulting in misdiagnosis and improper treatment.Case presentationA 49- year-old woman from Debre Berhan, Ethiopia, presented to the emergency department of Hakim Gizaw Teaching Hospital with symptoms and radiographic findings mimicking acute pulmonary embolism. On the basis of the clinical presentation and radiographic findings, the patient was first treated as a probable case of pulmonary embolism. Anticoagulant therapy and oxygen support were initiated. Nevertheless, additional testing using a chest computed tomography angiography revealed left lung hyperlucency, decreased vascularity, bronchiectasis, and a negative result for pulmonary embolism. As a result, Swyer–James–MacLeod syndrome was diagnosed.ConclusionThe symptoms of Swyer–James–MacLeod syndrome can be mistaken for pulmonary embolism, which could lead to ineffective treatment and needless expenses. In individuals presenting with symptoms suggestive of pulmonary embolism, this case emphasizes the significance of considering Swyer–James–MacLeod syndrome as a differential diagnosis, especially in the absence of established risk factors for pulmonary embolism.

Monocular Tuberculosis-Related Serpiginous-Like Choroiditis with Acute Posterior Multifocal Placoid Pigment Epitheliopathy-Like Presentation in a Danish Patient.

To report a case of tuberculosis-related serpiginous-like choroiditis (TB-SLC) in Denmark in a patient with few risk factors. Single case report. A 54-year-old Caucasian male with no relevant travel history presented with unilateral light placoid confluent elements in the macula of the right eye with a best-corrected visual acuity of 0.2 Snellen. The left eye was normal. Wide-field Fluorescein and Indocyanine green-angiography were performed, and findings were consistent with acute posterior multifocal placoid pigment epitheliopathy. Since the condition was considered sight-threatening, and the patient had no recognizable risk factors for tuberculosis (TB), he was prescribed 50 mg of oral prednisolone. Blood tests and an X-ray were ordered to exclude infectious causes. The first interferon-ỿ release assay (IGRA) test was inconclusive and a new test was ordered. Over the following weeks new white dots appeared in the retina. After the patient had been treated for seven weeks with prednisolone, the second IGRA came back positive, and he was diagnosed with TB-SLC. Upon repeated questioning two months after baseline, the patient remembered that ten years ago he had been in a workplace with 50 different nationalities, and seven years ago he had been in contact with a friend who was treated for latent TB, thus supporting relevant exposure. TB-SLC may occur even in a patient with few recognizable risk factors and in a setting that is not TB endemic. It is imperative to continuously reassess differential diagnoses and initiate or repeat paraclinical testing in cases with atypical features.

Clinicopathological features of BAP1 mutated clear cell renal cell carcinoma

Objective: To investigate the clinicopathological characteristics, immunophenotypes, molecular features, and differential diagnosis of BAP1 mutated clear cell renal cell carcinoma (CCRCC) for better understanding this entity. Methods: Clinical data, histological morphology, immunophenotypes and molecular characteristics of 18 BAP1 mutated CCRCC cases diagnosed at the Department of Pathology, the First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China from January 2020 to December 2022 were analyzed. The patients were followed up. Results: There were 17 males and 1 female patients, aged from 39 to 72 years, with an average age of 56.3 years. Sixteen patients with primary CCRCC were followed up for an average of 24 months, 7 patients had metastases occurred from 4 to 22 months postoperatively. Thirteen of the 16 patients were alive at the time of the last follow-up while 3 patients died 12, 15, and 20 months after the surgery, respectively. One patient underwent retroperitoneal mass resection, but had lung metastasis 32 months after surgery. One case received cervical tumor resection and died at 22 months after the surgery. Characteristic CCRCC regions were identified in 11 of the 18 cases. The tumor cells were arranged in papillary, alveolar, and large nest patterns. Abundant lymphoid tissue, necrosis, and psammoma bodies were seen. Tumor cells showed abundant eosinophilic cytoplasm, and sometimes exhibited rhabdoid differentiation. Round eosinophilic globules were located in the cytoplasm and extracellular matrix. There were 9 cases with WHO/International Society of Urological Pathology grade 3, and 9 cases with grade 4. PAX8 (18/18), carbonic anhydrase 9 (CA9, 16/18), CD10 (18/18), and vimentin (18/18) were positive in the vast majority of tumors.TFE3 was expressed in 5 cases, with strong expression in only 1 case. Eighteen cases were all positive for P504s. Twelve cases harbored a BAP1 mutation combined with von Hippel-Lindau (VHL) mutation, and 2 cases had mutations in BAP1, VHL and PBRM1 simultaneously. SETD2 mutation was not found in any of the cases. Conclusions: BAP1 mutated CCRCC contained papillary, alveolar, and large nest patterns, eosinophilic cytoplasm, high-grade nucleoli, and collagen globules, with P504s positivity. In practical work, when encountering CCRCC containing these features, pathologists should consider the possibility of BAP1 mutations and conduct related molecular tests.

Mesothelioma: molecular pathology and biomarkers.

Diffuse mesotheliomas are characterized by recurrent genomic alterations involving tumor suppressors and epigenetic regulators such as BAP1, CDKN2A, MTAP, and NF2. Depending on the differential diagnosis as informed by histologic assessment, one can apply the appropriate immunohistochemical and/or molecular panels to reach the correct pathologic diagnosis, sometimes even in cases with limited tissues. Biomarkers aid in the diagnosis of mesothelioma in the following scenarios: 1)For atumor that is overtly malignant, how can one distinguish mesothelioma from other tumors? 2)For amesothelial proliferation, how can one distinguish mesothelioma from areactive process? To distinguish mesotheliomas from carcinomas, at least two positive and two negative markers are currently recommended. To distinguish sarcomatoid mesothelioma from pleomorphic carcinoma, even more markers-and sometimes molecular testing-are needed. To distinguish mesothelioma from reactive mesothelial conditions, useful immunohistochemical biomarkers include BAP1, MTAP, and merlin, which serve as surrogates for the corresponding gene mutation status. In patients with unusual clinical history, for tumors with apeculiar microscopic appearance, and/or in cases with an equivocal immunophenotypic profile, molecular testing can help to exclude mimics and to confirm the pathologic diagnosis.

Comparative Analysis of Pediatric Patients with Different Involvements of Brucellosis.

Brucellosis is a zoonotic disease that mimics many other diseases, making diagnosis difficult in pediatric patients. If the clinical signs of the disease are not well known and there is a delay in diagnosis and treatment, complicated brucellosis involving different body sites can develop. This study aimed to analyze the demographics, clinical information, laboratory test results, and imaging findings of children with brucellosis. Particular attention was paid to the involvement of organs and potential complications. Pediatric patients diagnosed with brucellosis at the Sanlıurfa Training and Research Hospital in Turkey were retrospectively evaluated. In total, 101 patients diagnosed with brucellosis were included in this study. Bone-joint involvement was observed in 21 (20.7%) patients. High Brucella Coombs gel test (CT) titers (≥1/640) and increased erythrocyte sedimentation rate (ESR) were significant in the bone-joint brucellosis group (P = 0.022 and P = 0.0205, respectively). Fourteen (13.9%) patients had at least one organomegaly in which Brucella CT titers and C-reactive protein (CRP) levels were substantially higher than those in patients without organomegaly (P = 0.02 and P = 0.0049, respectively). Anemia, leukopenia, and thrombocytopenia were observed in 36 (35.6%), 10 (9.9%), and 4 (3.9%) patients, respectively. At least one elevation in liver function test (LFT) results was observed in 32 (31.7%) patients. High acute-phase reactants, such as ESR, CRP levels, and Brucella CT titers, may help identify complicated brucellosis. This study highlights that pediatric brucellosis can lead to cytopenia and elevated LFT results and should therefore be considered as a differential diagnosis.

Role of digital subtraction angiography in acute cervical spinal cord ischemia.

Ascertaining the etiology of cervical spinal cord dysfunction presents a challenge to clinicians, as the list of differential diagnoses is extensive. Although compressive and inflammatory disorders are common and should be considered immediately, vascular causes are similarly important and acute. The overlap of clinical, magnetic resonance imaging, and cerebrospinal fluid features among the causes of myelopathies may lead to erroneous diagnoses. Such errors may be compounded if routine vascular imaging does not reveal the underlying vasculopathy. We present here three cases in which computed tomography angiography and magnetic resonance angiogram could not clarify the nature of an acute myelopathy, whereas digital subtraction angiography established the diagnosis of spinal cord ischemia.

Claude 3 Opus and ChatGPT With GPT-4 in Dermoscopic Image Analysis for Melanoma Diagnosis: Comparative Performance Analysis.

Recent advancements in artificial intelligence (AI) and large language models (LLMs) have shown potential in medical fields, including dermatology. With the introduction of image analysis capabilities in LLMs, their application in dermatological diagnostics has garnered significant interest. These capabilities are enabled by the integration of computer vision techniques into the underlying architecture of LLMs. This study aimed to compare the diagnostic performance of Claude 3 Opus and ChatGPT with GPT-4 in analyzing dermoscopic images for melanoma detection, providing insights into their strengths and limitations. We randomly selected 100 histopathology-confirmed dermoscopic images (50 malignant, 50 benign) from the International Skin Imaging Collaboration (ISIC) archive using a computer-generated randomization process. The ISIC archive was chosen due to its comprehensive and well-annotated collection of dermoscopic images, ensuring a diverse and representative sample. Images were included if they were dermoscopic images of melanocytic lesions with histopathologically confirmed diagnoses. Each model was given the same prompt, instructing it to provide the top 3 differential diagnoses for each image, ranked by likelihood. Primary diagnosis accuracy, accuracy of the top 3 differential diagnoses, and malignancy discrimination ability were assessed. The McNemar test was chosen to compare the diagnostic performance of the 2 models, as it is suitable for analyzing paired nominal data. In the primary diagnosis, Claude 3 Opus achieved 54.9% sensitivity (95% CI 44.08%-65.37%), 57.14% specificity (95% CI 46.31%-67.46%), and 56% accuracy (95% CI 46.22%-65.42%), while ChatGPT demonstrated 56.86% sensitivity (95% CI 45.99%-67.21%), 38.78% specificity (95% CI 28.77%-49.59%), and 48% accuracy (95% CI 38.37%-57.75%). The McNemar test showed no significant difference between the 2 models (P=.17). For the top 3 differential diagnoses, Claude 3 Opus and ChatGPT included the correct diagnosis in 76% (95% CI 66.33%-83.77%) and 78% (95% CI 68.46%-85.45%) of cases, respectively. The McNemar test showed no significant difference (P=.56). In malignancy discrimination, Claude 3 Opus outperformed ChatGPT with 47.06% sensitivity, 81.63% specificity, and 64% accuracy, compared to 45.1%, 42.86%, and 44%, respectively. The McNemar test showed a significant difference (P<.001). Claude 3 Opus had an odds ratio of 3.951 (95% CI 1.685-9.263) in discriminating malignancy, while ChatGPT-4 had an odds ratio of 0.616 (95% CI 0.297-1.278). Our study highlights the potential of LLMs in assisting dermatologists but also reveals their limitations. Both models made errors in diagnosing melanoma and benign lesions. These findings underscore the need for developing robust, transparent, and clinically validated AI models through collaborative efforts between AI researchers, dermatologists, and other health care professionals. While AI can provide valuable insights, it cannot yet replace the expertise of trained clinicians.

Assessment and Management of Maxillary Labial Frenum—A Scoping Review

Background: The maxillary labial frenum (MLF) is a soft tissue fold connecting the upper lip to the alveolar process. Abnormal attachment can cause periodontal, functional, and esthetic problems. Differential diagnosis is important and can prevent unnecessary interventions. This study aims to summarize the current evidence on the assessment and management of abnormal MLF. Methods: A thorough review of the literature was conducted. Five online databases were searched for relevant peer-reviewed human studies. Article screening and data extraction were performed independently by two reviewers using predefined inclusion/exclusion criteria. Information about article type, study design, participants’ characteristics, interventions, and outcomes was extracted and synthesized. Results: 52 articles met the review criteria. MLF is a dynamic structure characterized by a wide normal morphological variation. MLF assessment in infants has not been standardized. Studies in pre-adolescents reported a change in the thickness and position of the MLF observed over time, resulting in a lower prevalence of abnormal MLF morphology. Studies in adolescents and adults reported variable differential diagnosis criteria. Lasers appear as the most advantageous frenectomy modality. Conclusions: There is a need for more objective MLF diagnostic protocols and treatment guidelines, which could prevent unnecessary surgical interventions.

Arginine vasopressin deficiency onset after COVID-19 vaccination with positive anti-rabphilin-3A antibodies: a case report and literature review

BackgroundArginine vasopressin deficiency (AVP-D) can occur due to various conditions, so clarifying its cause is important for deciding treatment strategy. Although several cases of AVP-D following coronavirus disease 2019(COVID-19) infection or COVID-19 vaccination have been reported, the diagnosis of the underlying disease has not been reported in most cases.Case presentationA 75-year-old woman who presented with polydipsia and polyuria 9 weeks after contracting COVID-19 and 5 weeks after receiving the SARS-CoV-2 vaccination, leading to the final diagnosis of AVP-D 8 months after the first appearance of symptoms. Interestingly, pituitary magnetic resonance imaging (MRI) still revealed stalk enlargement frequently observed in patients with SARS-CoV-2 vaccination-induced AVP-D. Although this finding could not rule out any malignancies, we additionally measured anti-rabphilin-3A antibodies, a known marker for lymphocytic infundibulo-neurohypophysitis (LINH), and found that the results were positive, strongly suggesting LINH as the cause of this disease. Thus, we avoided pituitary biopsy. At the follow-up MRI conducted 12 months after the initial consultation, enlargement of the pituitary stalk was still observed.ConclusionWe experienced a case with LINH probably induced by SARS-CoV-2 vaccination. In SARS-CoV-2 vaccination-related LINH, unlike typical LINH, there is a possibility of persistent pituitary stalk enlargement on MRI images for an extended period, posing challenges in differential diagnosis from other conditions. Pituitary stalk enlargement and positive anti-rabphilin-3A antibodies may help in the diagnosis of AVP-D induced by SARS-CoV-2 vaccination.

Intrasinusoidal bone marrow involvement in mantle cell lymphoma: a case series with review of the main differential diagnoses.

Intrasinusoidal bone marrow involvement is an infrequent histological pattern observed in a limited number of B and T cell lymphomas. Mantle cell lymphoma is a biologically and prognostically heterogeneous B cell lymphoma that frequently involves the bone marrow, with interstitial, nodular-paratrabecular, or diffuse patterns. Intrasinusoidal bone marrow involvement has been described only anecdotally in this lymphoma. Here, we describe the clinical, histopathological, and molecular features of four patients diagnosed with advanced-stage mantle cell lymphoma, showing intrasinusoidal bone marrow involvement, and other peculiar immunophenotypical features. As similar cases may represent a relevant issue in bone marrow diagnostic histopathology, we also reviewed the literature to discuss differential diagnoses of B and T cell lymphomas with intrasinusoidal bone marrow involvement.

Constipation and DIOS: Diagnosis, differential diagnosis, and management.

Cystic Fibrosis (CF) is a complex disorder that requires multidisciplinary expertise for effective management. The GALAXY study estimated the prevalence of constipation to be about 25% among People with Cystic Fibrosis (PwCF), identifying it as one of the common gastrointestinal (GI) symptoms within this patient population. Quality of Life (QoL) assessments uncovered high patient dissatisfaction, highlighting the imperative need for enhanced treatment strategies. Similarly, Distal Intestinal Obstruction Syndrome (DIOS) is a unique condition exclusive to PwCF that, if left undiagnosed, can lead to considerable morbidity and mortality. Given the broad spectrum of differential diagnoses for abdominal pain, including constipation and DIOS, it is paramount for healthcare providers to possess a clear understanding of these conditions. This paper aims to delineate various differentials for abdominal pain while elucidating the pathogenesis, diagnostic criteria, and treatment options for managing constipation and DIOS in PwCF.