Diagnostic Difficulties Research Articles

Evaluation of the common skin diseases in patients with malignancies and the cutaneous side effects of cancer treatments

Purpose The diversity of skin diseases in patients with malignancies leads to diagnostic difficulties and complicate cancer treatment. Furthermore, the increasing use of chemotherapy drugs and novel treatment regimens raises the risk of the development of various cutaneous side effects and the need for dermatologists during cancer management. We investigated the skin diseases in patients with malignancies and the cutaneous side effects of cancer treatments. Methods Medical records of cancer patients evaluated in the Dermatology clinic between July 2018 and April 2023 were retrospectively reviewed. Results This study included 872 cancer patients, 374 females and 498 males. Acute myeloid leukaemia was the most common malignancy, followed by multiple myeloma and invasive ductal breast carcinoma. Graft versus host disease was observed in 89 (10.2%) patients after stem cell transplantation and radiodermatitis developed in 16 (1.8%) patients. Maculopapular drug eruption and hand foot syndrome were the most common cutaneous side effects of chemotherapy drugs. Capecitabine was the most common etiologic agent in hand foot syndrome. Cellulitis was the most frequent bacterial infection in cancer patients, whereas herpes zoster was the most frequent viral infection. Among the chemotherapy drugs that caused acneiform drug eruption, cetuximab and cytarabine were notable. Facial erythema was associated with cytarabine use in 27.3% of patients. Conclusion Identifying the common skin diseases in cancer patients and cutaneous side effects due to chemotherapy drugs may help to take preventive measures, develop specific and effective treatments, determine the most appropriate cancer treatment options, and increase patients’ compliance with cancer treatment.

Diagnosis of heart failure with preserved ejection fraction based on exercise stress echocardiography in real-world practice

Abstract Aims The diagnostic difficulty of heart failure with preserved ejection fraction (HFpEF) is related to the fact that many patients develop abnormal hemodynamics only during exercise. Exercise stress echocardiography is a first-line test to unmask such abnormalities, but exercise protocols and diagnostic criteria have not been established. It remains unclear how cardiologists diagnose HFpEF by exercise echocardiography in real-world practice. Methods and Results An international web-based survey was performed on 87 cardiologists, 59% of whom had ≥ 6 years of experience with exercise echocardiography. A retrospective cohort of 652 dyspneic patients who underwent exercise echocardiography was used to determine the impact of different diagnostic criteria on the proportion of HFpEF diagnosis. The most commonly used exercise echocardiography criterion for the HFpEF diagnosis was the HFA-PEFF algorithm (48%), followed by the ASE/EACVI criteria (24%) and some combinations of multiple parameters (22%). A retrospective study found that the proportion of HFpEF diagnosis varied substantially between the criteria used: 20.1% for the ASE/EACVI criteria and 44.3% for the HFA-PEFF algorithm. A survey demonstrated that 54% of the participating cardiologists would initiate sodium-glucose co-transporter 2 inhibitors based on exercise echocardiography results. Conclusion In real-world practice, exercise echocardiography criteria for HFpEF diagnosis vary among cardiologists. While many cardiologists consider initiating pharmacological treatment on exercise echocardiography results, the frequency of HFpEF diagnosis varies substantially depending on the diagnostic criteria used. The lack of universal diagnostic criteria may limit the delivery of evidence-based treatment to patients with HFpEF.

Gastric metastasis of small cell lung carcinoma: A rare but noteworthy entity to consider.

Small cell lung carcinoma (SCLC) is an aggressive malignancy known for its propensity for early and extensive metastatic spread. Gastric metastasis, where cancer cells disseminate from the lung to the stomach, is a rare but increasingly recognized complication of SCLC. This review provides a comprehensive overview of gastric metastasis in SCLC, addressing its clinical significance, diagnostic challenges, management strategies, and prognosis. Additionally, it examines the broader metastatic patterns of SCLC and compares them with other malignancies known for gastric metastasis. Gastric metastasis in SCLC, though infrequent, is clinically significant and often indicates advanced disease with a poor prognosis. SCLC typically metastasizes to the liver, brain, bones, and adrenal glands, with the stomach being an unusual site. The incidence of gastric metastasis ranges from 1% to 5% in autopsy studies, although this may be underestimated due to diagnostic difficulties and asymptomatic early lesions. Diagnosing gastric metastasis presents several challenges, including the asymptomatic nature of many cases, limitations of conventional imaging techniques, and difficulties in distinguishing metastatic lesions from primary gastric cancer via endoscopy. Histopathological diagnosis requires careful examination to identify SCLC cells through their characteristic small cell morphology and neuroendocrine markers. Management of gastric metastasis in SCLC typically involves a multidisciplinary approach. Systemic therapy, primarily chemotherapy, remains the cornerstone of treatment, with palliative care addressing symptoms and complications. Surgical intervention is usually reserved for specific cases requiring symptomatic relief. The prognosis for patients with gastric metastasis from SCLC is generally poor, reflecting the advanced stage of the disease. Median survival is significantly reduced compared to patients without gastric metastasis. This review emphasizes the need for enhanced awareness and early detection to improve patient outcomes and highlights the importance of ongoing research into better diagnostic and therapeutic strategies.

Difficulties in the diagnosis and treatment of germ cell tumors based on a clinical case

Germ cell tumors (GCT) are a group of rare malignant neoplasms. At the same time, the group of patients with this pathology is mainly young people aged 25–35 years. Taking into account the rarity of the disease and the young age of patients, there may often be difficulties in diagnostics and treatment of this malignant tumor. On the example of the described clinical case of a patient with seminomatous GCT the most frequent problems that specialists may encounter in the treatment of this pathology are presented.

Case Report: An Atypical Sellar Mass - Sellar Tuberculoma in a Young Patient

Background: Tuberculosis of the central nervous system is an uncommon but one of the most severe forms. It manifests as tuberculoma and tuberculous meningitis, with the majority of cases affecting children and immunocompromised patients. Overall, tuberculomas make up to 0.15–2 % of all intracranial lesions but sellar tuberculoma is extremely rare. The Case: An 18-year-old female patient presented with complaint of generalized weakness, eye pain and headache for 3-4 months. Magnetic resonance imaging (MRI) of brain showed sellar and suprasellar space occupying lesion. Trans sphenoidal approach was used to remove the lesion completely. A sellar tuberculoma was confirmed on pathological evaluation and the patient was put on postoperative anti-tubercular therapy. Conclusion: Although rare, intracranial tuberculomas, particularly those that originate in the sellar, are notorious for mimicking pituitary tumors by jeopardizing pituitary hormonal function and applying compressive forces on surrounding intracranial structures. However, a prompt assessment can help overcome this diagnostic difficulty with the timely initiation of anti-tubercular therapy (ATT).

CLINICAL CASES OF SPITZOID NEOPLASMS

Spitz nevi account for about 2% of the total number of melanocytic skin neoplasms. There are benign Spitz nevi, atypical Spitz tumour, and malignant Spitz melanoma. These clinically similar lesions, usually represented by a flesh-coloured, pink or brownish-black spot or nodule, are often heavily vascularised, grow rapidly in size and change in structure, raising concerns about malignancy. Dynamic observations have revealed the possibility of long-term stabilisation and periods of regressive changes. Dermoscopy is used for early diagnosis due to the initially small size of nevi. When examining the magnified image of the tumour surface, the structure of the neoplasm is recognized. In the case of Spitz nevi, special patterns of “starburst” and “stardust” are identified, which allow to suspect the diagnosis and the period of involution, respectively. Pathohistologically, Spitz nevi are defined as melanocytic proliferations with large epithelioid or spindle-shaped melanocytes with large nuclei, vesicular chromatin and prominent nucleoli. However, the differentiation between different subtypes of spitzoid neoplasms remains a difficult issue. As of today, the review of H&E-stained structures still prevails over immunohistochemical and molecular genetic diagnostic methods. Even nowadays, Spitz nevi still cause difficulties in clinical and morphological diagnosis and management approaches. The publication considers several interesting cases from personal clinical practice. Case 1: Patient A, a 24-year-old woman. She complained of a single rash on the outer surface of the right thigh, which gradually increased in size over the last year. On clinical examination, a small erythematous, partially pigmented, heterogeneous nodule was observed in this area. The demonstrated Spitz nevus is heterogeneous in structure. Being in the phase of active growth, it showed an asymmetrical “starburst” pattern formed by vascular elements in a linear arrangement, and white reticular lines or structureless zones. Case 2: Patient B, 34 years old. A full examination of the right popliteal fossa revealed a heterogeneous spot up to 4 mm in diameter, which caused concern. A case of Spitz nevus is represented by a globular pattern in the centre and a reticular pattern on the periphery, which is more common for lesions that have been on the skin for some time, but no longer show signs of active growth. Case 3: Patient C, a 25-year-old woman, skin phototype 2, with a family history of skin tumours in several previous generations. The examination revealed a heterogeneous nodule of suspicious morphology in the left scapula. Dermoscopically, the above-described lesion is represented by two zones of different structure. The central zone has the signs of radial markings formed by various pattern elements; the polychromatic zone has areas of negative pigment network, white lines, dots and globules. There was also an eccentrically located area with a radially oriented hyperchromatic pigment network and a clear border along the outer edge. Most Spitz nevi are independent lesions, but some of them can be associated with other skin neoplasms. This is likely to be the example in the above-mentioned case, so it was the nevus-associated Spitz melanoma. Spitz nevi are an urgent problem of modern medicine. The similarity of the clinical, dermoscopic and pathological picture to malignant skin neoplasms causes diagnostic difficulties. Visual variability requires considerable clinical experience of a specialist.

Destabilization of Pedicle Screws and Migration of Connecting Rod into the Posterior Cranial Fossa in a Patient After Posterior Spondylosynthesis with a Screw System

When performing osteosynthesis for spinal instability after traumatic injury, diagnostic difficulties arise due to the migration of metal structure components to distant “atypical” anatomical areas, which is associated with the risk of neurological deficit and life-threatening conditions. This article presents a casuistic case of migration of a metal structure component through an iatrogenic opening in the occipital bone into the posterior cranial fossa in a patient who had previously undergone instrumental correction for comminuted fractures of the cervical vertebrae. It should be noted that there are no data on “spontaneous” perforation of the occipital bone by metal osteosynthesis elements in the domestic literature.

An unusual case of a de novo high-grade B cell neoplasm with MYC and BCL2 rearrangements, strong TdT expression, and BRAF V600E mutation

Abstract Introduction/Objective Aggressive de novo B cell neoplasms can rarely exhibit overlapping features of B- lymphoblastic leukemia/lymphoma (B-ALL) and high-grade B cell lymphoma (HGBL) making their definitive classification challenging. The distinction between mature and immature B cell neoplasms is critical as treatment approaches differ. We report a unique case of an aggressive B cell neoplasm that not only posed diagnostic difficulties but was also found to harbor a BRAF V600E mutation, an unusual finding in such cases. Methods/Case Report A 33-year-old man without any significant past medical history presented for evaluation of a large tonsil mass and diffuse lymphadenopathy. The tonsil was excised, and histologic examination showed a diffuse atypical infiltrate composed of medium to large monomorphic lymphoid cells with high-grade cytology. By immunohistochemistry, the atypical cells were positive for CD19, CD79a, CD22, PAX5, CD10 (strong), CD45 (strong), BCL2, MYC, and TdT (strong). Ki67 showed a high proliferation index (80%). The atypical cells were negative for CD20, CD34, CD1a, CD30, Cyclin D1, T cell markers, myeloid markers, HHV8, and EBER. Flow cytometry detected a CD10 positive B cell population that was negative for CD20, CD34, and surface light chain expression. Fluorescence in-situ hybridization (FISH) detected BCL2 and MYC rearrangements. Staging marrow showed diffuse involvement by a neoplastic infiltrate with similar features to those observed in the tonsil. Chromosome analysis showed a complex karyotype. The patient was treated with two cycles of da-EPOCH-R. A neck lymph node biopsy two months later showed persistent disease. Next-generation sequencing (NGS) on this sample demonstrated a BRAF V600E mutation at 31% allele frequency. A mutation-specific BRAF-VE1 immunostain was diffusely positive. Results (if a Case Study enter NA) NA Conclusion This was a diagnostically challenging case of a de novo B-cell lineage neoplasm with high-grade features, MYC and BCL2 rearrangements, and strong diffuse TdT expression. There is limited literature on mutational profiles and prognostic data for such cases, and whether they are best classified (and treated) as HGBL or B-ALL remains challenging and controversial. In our case, we also discovered an unexpected finding of a BRAF V600E mutation, which has not been reported in similar cases in the existing literature and could serve as a potential therapeutic target. Additional reporting and genetic profiling of such cases may help further elucidate their biology and guide treatment protocols.

The challenge of etiologic diagnosis of subacute and chronic meningitis: an analysis of 183 patients.

Subacute and chronic meningitis (SCM) presents significant diagnostic challenges, with numerous infectious and non-infectious inflammatory causes. This study examined patients aged 16 and older with SCM admitted to referral centers for neuroinfections and neuroinflammations in Mashhad, Iran, between March 2015 and October 2022. Among 183 episodes, tuberculous meningitis was the most common infectious cause (46.5%), followed by Brucella meningitis (24.6%). The cause of SCM was definitively proven in 40.4%, presumptive in 35.0%, and unknown in 24.6% of cases. In-hospital mortality was 14.4%, and 30.5% of survivors experienced unfavorable outcomes (Glasgow Outcome Scale 2-4). Patients with unknown causes had a significantly higher risk of death compared to those with presumptive or proven diagnoses (risk ratio 4.18). This study emphasizes the diagnostic difficulties of SCM, with one-quarter of cases remaining undiagnosed and over one-third having only a presumptive diagnosis. Improving diagnostic methods could potentially enhance prognosis and reduce mortality.

Elderly age and tuberculosis: diagnostics difficulties and course features

ABSTRACT. The clinical observation of an elderly female patient, who was being treated at the Zaporizhzhia Regional Phthisiopulmonology Clinical Treatment and Diagnostic Center, is presented, the features of the diagnostics and the course of the tuberculosis process is determined. The clinical case demonstrates the difficulty of timely tuberculosis diagnostics due to numerous comorbidities in an elderly woman. Most cases of tuberculosis in the elderly are associated with the reactivation of old specific foci, which can be explained by age-related changes in the immune system. In this case, the difficulty of the timely tuberculosis diagnostics was associated with non-specific symptoms of the active process and the absence of bacterial excretion 2 years ago in an elderly woman. As a result, a diagnosis of malignant neoplasm of the upper lobe of the left lung was mistakenly made. The outcomes of the disease led to the development of fibrocavernous tuberculosis with multidrug resistance. The woman had a good adherence to the treatment, which gave a positive result.

6426 Pregnancy-induced ACTH-independent Cushing Syndrome: A Rare Phenomenon Secondary To Aberrant Receptors On Adrenal Glands

Abstract Disclosure: K. Manglani: None. S.T. Sharma: None. Pregnancy-induced hypercortisolism is a rare phenomenon with very few cases reported in the literature. The pathogenesis is thought to be secondary to the expression of aberrant LH/hCG receptors on the adrenal gland that stimulate cortisol production in pregnancy. We present a case of a 31-year-old female with no past comorbidities until her first pregnancy in 2017 when she gained around 50lbs, developed violaceous striae, acne, hirsutism, depression with suicidal ideation for which she was hospitalized twice, and underwent emergent C-section at 34 weeks’ gestation due to pre-eclampsia. She was referred to the Endocrinology clinic post-delivery, and screening for Cushing syndrome was negative at that time: 24-hour urinary free cortisol (UFC), late-night salivary cortisol (LNSC) and 1-mg dexamethasone (dex) suppression test (DST) were normal. She presented again in 2020 during her second pregnancy at 14 weeks gestation, with 20lb weight gain in the first trimester, acne, hirsutism, and easy bruising. Labs showed cortisol of 22.4 mcg/dL (6.2-19.4), ACTH <1.5 pg/mL, total testosterone 168 ng/dL (8-48), androstenedione 751 ng/dL (41-262), DHEAS 91.2 mcg/dL (84.8-378), 24-hour UFC 277 mcg/day (6-42), LNSC 0.671 mcg/dL, 1mg DST with post-dex cortisol 24 mcg/dL (dex level 58 ng/dL), and 8-mg DST with post-dex cortisol level of 28.2 mcg/dL (dex level 457 ng/dL). Testing was consistent with ACTH-independent Cushing syndrome. Ultrasound and MRI of the abdomen/pelvis showed normal adrenal glands with no hyperplasia or mass. Given worsening hypercortisolism and her course during a prior pregnancy, medical treatment with metyrapone was initiated. We started at a dose of 500 mg daily and gradually increased to 1500 mg with close monitoring of her blood pressure and cortisol levels. She underwent vaginal delivery at 38 weeks’ gestation, and the baby required a brief stay in the NICU for respiratory distress but was otherwise doing well. The patient developed secondary adrenal insufficiency post-delivery requiring hydrocortisone, with recovery of her HPA axis in around 10 weeks. Since then, she has been off hydrocortisone with normal UFC, ACTH, and cortisol levels. This case enables discussion regarding the underlying etiology, diagnostic difficulties, and management of this rare condition. Although the exact etiology is unknown, the postulated mechanism is aberrant LH/hCG receptor expression given the patient’s presentation during each pregnancy, normal cortisol levels between both pregnancies, and a brief period of adrenal insufficiency post-delivery. Management of hypercortisolism during pregnancy remains challenging. Metyrapone, a steroidogenesis inhibitor, can be considered for control of hypercortisolemia during pregnancy (off-label) in select cases to prevent maternal and fetal complications. Presentation: 6/1/2024

8273 ACTH-Dependent Cushing's Syndrome Due To Metastatic Cervical Cancer: A Case Report

Abstract Disclosure: T.D. Bertolacini da Silva: None. V.D. Kamura: None. P.D. Buchalla: None. A.G. Simoes: None. S. Glina: None. Z.M. Campos: None. I.S. Rosa: None. P.X. Santi: None. Background: The association of dependent Cushing's ACTH Syndrome with certain types of cancer is well known, such as small cell lung cancer, enteropancreatic tumors, thymoma, thyroid cancer, however, in association with cervical cancer there are almost no cases described. Clinical Case: A 39-year women, showed about 2.5 years ago with abnormal uterine bleeding, being submitted to colposcopy with the presence of exophytic, friable and hardened lesion in the anterior region of the cervix. Biopsies revealed adenocarcinoma, endometrioid type and immunohistochemistry (IHC) positive for: Ki-67 80%, vimentin and CEA. Patient underwent initial treatment with chemotherapy and radiotherapy, losing follow-up with Oncology. After 1 year, the patient was admitted to a hospital with behavioral alteration, including suicidal ideation, muscle weakness, breast enlargement and hair growth on the face. On physical examination, there was the presence of hypertension, hyperglycemia, centripetal obesity, legs edema and hirsutism. Due to the typical symptoms, the hypothesis of Cushing's Syndrome was made and laboratory and imaging tests were requested. Initial tests: K 1.9 mmol/L (3.5-5.6 mmol/L), Na 146 mmol/L (137-145 mmol/L), TSH 0.25 uIU/mL (0.49-5.58 uIU/mL/mL), free T4 0.78 ng/dL (0.89-1.53 ng/dL), pH 7.57 (7.36-7.41), HCO3 43.1 mmol/L (23-27 mmol/L), LH 0.15 mIU/mL (1.9-12.5 mIU/mL), FSH 1.02 mIU/mL (2.5-10 mIU/mL), estradiol 84.1 pg/mL (< 32.2 pg/mL), ACTH 365.0 pg/mL and 98.6 pg/mL (< 46 pg/mL), cortisol > 75 ug/dL (5.27-22.5 ug/dL), urinary cortisol 3790 ug/24h (4-60 ug/24h), testosterone 333 ng/dL (12 - 59 ng/dL), free testosterone 10.12 ng/dL (0.08-1.1 ng/dL), dehydrotestosterone 1,620 pg/mL (< 596 pg/mL), androstenedione > 10 ng/mL (0.3-3.3 ng/mL). The dosages of ACTH and cortisol were performed after the dexamethasone suppression test and a pituitary MRI was normal. The MRI of the abdomen and pelvis showed multiple solid nodular lesions in liver with varying sizes compatible with metastatic disease, in addition, showed the increase in the bilateral volume of the adrenals. Liver biopsy was performed exhibiting carcinoma infiltration with IHC compatible with neuroendocrine tumor, positive for: CDX-2, SATB2, chromogranin A and synaptophysin (waiting for ACTH). Other primary sites were ruled out. The patient was initially treated with Etomidate in a continuous infusion, without tolerance and little control of hypercortisolism, after initiating Ketoconazole which was suspended due to hepatotoxicity, and then underwent bilateral adrenalectomy. Unfortunately, she died 4 days after surgery due to septic shock. Conclusion: This case report brings a very rare association of Cushing's syndrome by ectopic ACTH due to cervical cancer, with less than 10 cases reported, in which we highlight the diagnostic difficulty, the complexity of treatment and the high risk of morbidity and mortality. Presentation: 6/1/2024

A-021 Evaluation of a Novel N Terminal Pro B Type Natriuretic Peptide Assay as an aid in the Diagnosis of Acute Heart Failure in the Emergency Department

Abstract Background The signs and symptoms of acute heart failure (AHF) may overlap with other conditions and lead to diagnostic difficulty in the undifferentiated patient with dyspnea. The particularly high negative predictive value (NPV) of natriuretic peptides (NPs) in excluding AHF have rendered these assays especially useful in evaluating dyspnea in acute care setting. This study was conducted to assess the diagnostic performance of a novel N-terminal pro-B type natriuretic peptide (NT-proBNP) assay in the intended use patient population in the emergency department (ED). Methods A multicenter study was conducted in the U.S. on individuals presenting to the ED with dyspnea and a suspicion of AHF. Blood specimens were collected and tested using the Beckman Coulter Access NT-proBNP assay on the DxI 9000 Immunoassay Analyzer. Test results were compared to an adjudicated diagnosis clinical endpoint performed by an independent Clinical Events Committee blinded to the Access NT-proBNP result. Performance included NPV and sensitivity of an age-independent cut point of <300 ng/L to exclude AHF, and the positive predictive value (PPV) of the age-dependent cut points of >450, >900, and >1800 ng/L for ages <50 years, 50-75 years, and >75 years, respectively, for the diagnosis of AHF. The sample size required to achieve a 95% two tailed confidence interval (CI) was 150 subjects per age group to provide clinical performance at 90% (±10%) sensitivity. Sample size was based upon CLSI EP24-A2, Assessment of the Diagnostic Accuracy of Laboratory Tests Using Receiver Operating Characteristic Curves. Sensitivity and specificity were calculated at a series of cutoff points and plotted in separate receiver operation curves (ROC) for an overall age-independent rule-out analysis and for individual age-dependent groups separately. Area under the receiver operator characteristic curve (AUROC) was reported with 95% 2-sided CI. NPV and PPV with respective 95% 2-sided score CI was computed for the overall age-independent cut point and for each age group cohort. Results Of 490 enrolled patients, 41% were adjudicated with AHF with a median (Q1, Q3) age of 60 (47-76) years, and distributions of 46.1% female, 60.8% White and 38.2% Black. The assay had an AUROC for AHF of 0.88 (P<0.001), comparable to other commercially available NT-proBNP assays. The rule-out cut point of <300 ng/L had 96% sensitivity and NPV of 95%. Age-dependent cut points had sensitivity of 84%, 90%, and 87%, specificity of 81%, 70% and 61%, and PPV of 72%, 62%, and 74%, respectively. Conclusions The Access NT-proBNP assay demonstrated high clinical performance in the diagnosis and exclusion of acute HF in the undifferentiated dyspneic patient population and performed similarly well to validated assays used in current clinical practice. Given the continued increase in importance and reach of natriuretic peptide testing, these results are useful to extend availability of this assay to a larger audience.

Chronic Invasive Fungal Sinusitis Mimicking Malignancy Post-Radiotherapy: A Case Report.

Invasive fungal sinusitis is a life-threatening form of fungal rhinosinusitis. Due to the aggressive clinical presentation and radiological appearance, there is diagnostic difficulty in differentiating invasive fungal sinusitis from a malignant process. This is even more challenging in oncological patients who have undergone previous head and neck radiotherapy, due to possibility of a recurrence of primary malignancy and radiation-induced neoplasms. We report a rare case of invasive fungal sinusitis mimicking a malignancy in a post-radiotherapy patient.Our patient was a 68-year-old male, 25-years post-radiotherapy for nasopharyngeal carcinoma. He presented with a 3-month history of purulent sputum and right facial paraesthesia. Magnetic resonance imaging showed an irregular destructive enhancing mass of the greater wing of right sphenoid and pterygoid bone with extensive extension into nearby structures. In view of extensive local and bony invasion, and a history of radiotherapy, initial suspicions were that of primary malignancy, specifically radiation-induced sarcoma, and recurrence of nasopharyngeal carcinoma. He underwent transpterygoid biopsy of the lesion, and histopathology demonstrated Aspergillus species, with no malignancy identified.Our report highlights the diagnostic difficulties in the post-radiotherapy cancer patient presenting with symptoms suggestive of aggressive sino-nasal disease. Invasive fungal sinusitis closely mimics the clinical and radiological findings of several neoplastic processes. We discuss the clinical and radiological characteristics of pathologies that may mimic invasive fungal sinusitis. Histological examination remains the gold standard for diagnosis, and early fungal staining is crucial. Furthermore, one should not presume the initial histopathological diagnosis to be confirmatory of isolated fungal disease. Repeat radiological investigations for disease resolution and histopathologic re-evaluation if required should be performed, keeping in mind possibility of coexisting malignancy.

Articular syndrome in a patient with gout and subclinical yersiniosis infection: diffi culties of diagnostics and treatment

Articular syndrome in a patient with gout and subclinical yersiniosis infection: diffi culties of diagnostics and treatment

Cesarean scar pregnancy: Case report

Cesarean scar pregnancy is an unusual entity that is classified as a subtype of ectopic pregnancy and in turn in the placenta accreta spectrum. We present a case in whom other diagnoses were initially suspected, which implied management difficulties. It is reported due to its low prevalence and diagnostic difficulty due to low clinical suspicion. In addition, a brief review of the current literature on this pathology is carried out.

Congenital heart defects and Eisenmenger's syndrome in adults - diagnostic difficulties (clinical case)

Congenital heart defects and Eisenmenger's syndrome in adults - diagnostic difficulties (clinical case)

Gastric-type extremely well-differentiated adenocarcinoma of the stomach: A rare tumor with diagnostic difficulties and high inter-observer variation in endoscopic pinch biopsies

Extremely well-differentiated gastric-type adenocarcinoma (EWDGA) is a rare type of gastric cancer composed of deceptively bland-looking malignant cells resembling normal foveolar or pyloric epithelium. The histological features of this tumor have not been recognized by many pathologists, and inter-observer variation studies are lacking. Here, we report seven EWDGAs and inter-observer variation of six preoperative biopsies was evaluated by 11 pathologists in a single institute. Based on the pathological diagnosis of the endoscopic biopsy slides, the average rate of definite malignancy diagnosis was 15.2 %, and the overall diagnostic concordance rate was 34.9 % among 11 pathologists. Microscopically, the surface epithelium was preserved and only a few atypical tumor glands were scattered in most endoscopic biopsies. Structural atypia was minimal, and the tumor glands were barely distinguishable from normal glands. Although nuclear atypia was minimal, enlarged nuclei, relatively large glands with irregular shapes, and abundant cytoplasmic mucin were observed in gastric pinch biopsies. In preoperative biopsies, no cases showed p53 overexpression, and Ki-67 labeling index ranged from 3 % to 35 % and was higher compared to non-neoplastic glands in 3 cases. After gastrectomy, four (57.1 %) patients had advanced gastric cancer and three (42.9 %) had lymph node metastasis. Genomic profiling of the four patients revealed mutations of TP53, BRAF, KRAS, STK11, and MDM2/CCND1 amplification. Immunohistochemistry for p53 was not helpful while Ki-67 may be helpful when staining pattern is distinct from the non-neoplastic mucosa. In conclusion, it is challenging to diagnose EWDGA using biopsy specimens. Recognizing and addressing this rare entity will increase diagnostic accuracy to ensure the early diagnosis of cancer.

Performance du score de probabilité à 4 niveaux 4PEPS pour le diagnostic de l'embolie pulmonaire dans une population d'Afrique subsaharienne : données du Registre des Embolies Pulmonaires du Centre Hospitalier Universitaire de Bogodogo, Burkina Faso

ObjectiveTo evaluate the performance of the 4PEPS score in the diagnosis of pulmonary embolism at the University Hospital of Bogodogo from January 1, 2021 to July 31, 2023. MethodologyThis was a cross-sectional descriptive and analytical diagnostic study, running from January 1, 2021 to July 31, 2023. It took place in the infectious and tropical diseases departments, including a pneumology unit and a cardiology unit, of the Bogodogo University Hospital. Patients of both sexes with suspected pulmonary embolism who had undergone CT scan were included. The 4PEPS score was calculated and dichotomized into probable and improbable. It thus constituted the diagnostic test. CT scan was the gold standard. The accuracy of the diagnostic test was judged by the area under the ROC curve. An area under the curve between 0.70 and 1 would mean that the score was moderately informative to perfect. ResultsOur study included 472 patients with suspected pulmonary embolism out of a total population of 1228 patients. Hospital prevalence was 21.7%. The mean age of patients was 54.3 years. Females accounted for 52.1% of cases, with a sex ratio of 0.93. The prevalence of pulmonary embolism in the different probability levels of the 4PEPS score was 13.3% for the very low level, 11.7% for the low level, 84.6% for the intermediate level and 93.3% for the high level. Sensitivity and specificity were 92.1% and 86.82% respectively. The positive and negative predictive values were 90.1% and 89.4% respectively. The area under the ROC curve was 0.91. ConclusionIn our study, the 4PEPS score showed good negative and positive predictive values. The use of this score will enable practitioners faced with diagnostic difficulties to make therapeutic decisions, reducing inappropriate prescriptions for thoracic angioscan.

Unilateral pulmonary vein atresia: Difficulties of radiological diagnosis

Pulmonary vein atresia is a rare congenital abnormality that could manifest in isolation or in association with other congenital abnormalities in the cardiovascular system such as pulmonary vein hypoplasia. Pulmonary vein atresia leads to changes in cardiovascular functioning. This abnormality is often diagnosed in children with recurrent pneumonia and hemoptysis. In adulthood, pulmonary vein atresia is much less common, with clinical symptoms such as dyspnea during physical exercises and hemoptysis. However, some patients are asymptomatic. Owing to the nonspecific imaging findings, lung parenchymal changes are often misdiagnosed as another lung disease, including inflammatory genesis disease. In this article, a case of a young man with asymptomatic unilateral pulmonary vein atresia combined with pulmonary artery hypoplasia and interstitial lung changes in a lung with hypoplasia was presented. These pathologies were first identified in a 21-year-old patient by contrast-enhanced computed tomography.