搜索结果：Archive of clinical cases

Use of embedded performance validity tests (PVTs) helps efficiently monitor performance within neuropsychological batteries, particularly when embedded within instruments such as the Wechsler Memory Scale (WMS) Logical Memory (LM) subtest. Killgore and DellaPietra's 2000 commonly referenced WMS-III Rarely Missed Index (RMI) was developed through simulated design and not updated using WMS-IV items. This study investigated the utility of the WMS-III RMI in our clinical sample, while also seeking to validate a WMS-IV RMI update utilizing an archival Pearson non-stimulus sample (NSS) and our clinical archive. Fifty cases from the Pearson NSS archive and clinic archive PVT Pass (N = 195) and Fail (N = 95) cases were included. Determination of PVT Pass-Fail was based on passing ≥2 stand-alone and/or embedded PVTs. The original RMI was updated using WMS-IV questions adapted from WMS-III. The novel WMS-IV RMI was developed by identifying LM recognition items answered with ≥ 70% accuracy in the Pearson NSS or ≥ 90% accuracy in the Pass-PVT group. Items entered into exploratory discriminant function analysis revealed a structure matrix with group correlation of ≥ 0.30, and standardized canonical discriminant function coefficients of 0.59, 0.46, 0.41, 0.33, and 0.23 for WMS-IV LM recognition items 14, 16, 22, 28, and 29, respectively. Items were weighted based on these coefficients, aggregating to an index ranging from 0 to 202. Unexpectedly, no original RMI items overlapped with the novel RMI. The novel RMI cutoff of ≤140 resulted in 90.3% specificity with 25.3% sensitivity. Novel RMI AUC was 0.66, with an optimal cutoff of ≤190 to maximize sensitivity (64.2%) and specificity (65.4%). Results caution clinicians and researchers against using dated PVTs, while PVTs determined by simulated designs should not be assumed to stand up to clinical samples.

Retrospective cohort study assessing real-world use patterns and test properties of labial salivary gland biopsy (LSGBx) for diagnosing Sjögren's disease (SjD). We retrieved 89 LSGBx samples from our dermatopathology archive and obtained 23 cadaveric LSGBx samples without known autoimmune diseases for control. SjD cases included 15 seropositive Sjögren's disease (spSjD), 34 seronegative Sjögren's disease (snSjD), and 40 not SjD. All slides were de-identified and presented in random order to a blinded dermatopathologist and oral pathologist to review and score all samples according to established criteria. Patient demographics and clinical information were obtained via chart review. Sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of LSGBx were calculated, and odds of a SjD diagnosis after a positive LSGBx was assessed with logistic regression. LSGBx supported SjD in 73.3% of spSjD, 73.5% of snSjD, and 55.0% of notSjD cases, and 21.7% of cadaveric specimens. Sensitivity for SjD (spSjD + snSjD) was 73.5%, specificity was 45.0%, PPV was 62.1%, and NPV was 58.1%. A positive LSGBx increased the odds of SjD (OR=2.27, 95% CI: 0.93-5.51). The odds were similar and non-significant for spSjD and snSjD. Cadaveric specimens had lower LSGBx positivity rates compared to notSjD cases (OR=0.24, 95% CI: 0.07-0.77). Objective measures of eye dryness (14/89 cases) or oral dryness (0/89) were infrequently assessed. The predictive value of LSGBx for SjD is limited. The lack of objective clinical data in this cohort suggests that LSGBx is often heavily weighted for diagnosis, but these data question that approach.

Fine-needle aspiration (FNA) is a valuable diagnostic tool for evaluating breast lesions, yet its use is less frequent compared to core needle biopsies in high-resource settings. This study aimed to assess the diagnostic performance and clinical utility of FNA in correlation with surgical pathology outcomes. We performed a 3-year retrospective search (2021-2023) using our institutional database to identify cases of breast mass FNAs performed by interventional radiologists under ultrasound guidance. We retrieved and re-evaluated all glass slides from the archive. Additionally, we reviewed the cytopathology reports and correlated the cytologic diagnoses with concurrent or subsequent surgical pathology results. A total of 65 breast FNA cases from patients were reviewed. The diagnostic outcomes were 55% negative for malignancy, 23% insufficient for diagnosis, 11% atypical, 8% suspicious for malignancy, and 3% positive for malignancy. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value of FNA for detecting malignancy were 76%, 96%, 93%, and 85%, respectively. One false positive case, categorized as atypical due to degenerative changes, was later confirmed as benign apocrine metaplasia. Three false-negative cases, initially categorized as non-diagnostic, were later diagnosed as invasive ductal carcinoma, Hodgkin lymphoma, and papillary carcinoma. An additional false-negative case, categorized under negative for malignancy, was later diagnosed as invasive ductal carcinoma. Breast FNAs, while less frequently performed than core needle biopsies, provide significant diagnostic insights, particularly for cystic lesions. The study demonstrates high specificity and PPV for FNA in detecting malignancy, underscoring its value as a diagnostic tool when integrated with imaging and clinical assessment. These findings support the continued use of FNA in the diagnostic evaluation of breast lesions.

Homocystinuria (HCU) is a rare autosomal recessive metabolic disorder, characterized by a mutation in the enzyme cystathionine beta-synthase and abnormally high levels of homocysteine in the blood. HCU that runs in a family is rare; prior to this report, there have been only 150 familial cases described in the literature. Here, we describe a familial cluster of HCU in four children in "Family V," a consanguineous indigenous family from rural Honduras with a 10-year clinical follow up. We describe the diagnosis, presentation and progression of three patients who were diagnosed in 2015; critical findings include substantial vision loss in Patients 1 and 2, and a significant decline in language ability in Patient 3. We also describe the presentation of Patient 4, a grandchild who we diagnosed with probable HCU based on symptoms very similar to his siblings and highly suspicious for HCU. Additionally, we completed a narrative review of previously published familial HCU cases, using PubMed and Google Scholar, to highlight common phenotypic trends in familial HCU patients. In the reported familial cases, 57% had CNS complications, 48% had ocular complications, and 30% had cardiovascular complications.

To assess the validity of information on the date of diagnosis of intracranial tumors in the Swedish National Cancer Register. The study was conducted in Region Stockholm, covering approximately 2.4 million inhabitants. Data from the Image and Function Service (BFT) archive, which contains a population-based database of all diagnostic radiology in the Stockholm Region, was used. The study included all primary cases of intracranial tumors (ICD10 codes C70 and C71) reported from Stockholm to the National Cancer Register from 2010 to 2020. Radiology reports from CT and MRI exams performed from 2000 to 2020 were reviewed. Reports from exams conducted more than one month before the Swedish Cancer Register diagnosis were manually examined to validate the date of diagnosis. For 98.8% of the brain tumor patients and 96.2% of the meningioma patients, the date of first radiological diagnosis was one month or less prior to date of diagnosis in the Swedish Cancer Register. Of the patients with radiological diagnoses more than one month prior to cancer register diagnosis, 30 patients (1.0%) had tumors reported to the register one month to one year after radiological diagnosis, and 36 patients (1.2%) had tumors reported more than one year later. The study found that for patients from the Stockholm Region with intracranial tumors reported to the Swedish Cancer Register during the period 2010 through 2020, date of diagnosis is highly accurate.

Prenatal genetic diagnostics have undergone a remarkable transformation, progressing from early cytogenetic techniques such as karyotyping and fluorescence in situ hybridization (FISH) to chromosomal microarray analysis (CMA) and, most recently, whole exome sequencing (WES). WES has emerged as a groundbreaking tool, allowing for identifying single-gene mutations, small insertions and deletions, and other pathogenic variants responsible for rare and complex diseases. Unlike conventional approaches, which primarily detect large chromosomal abnormalities, WES provides a high-resolution analysis of the fetal genome, significantly improving diagnostic accuracy and enabling early intervention. This review explores the historical evolution of prenatal genetic testing, highlighting key milestones from the introduction of cytogenetics in the 1960s to the integration of WES in clinical practice over the last decade. WES has proven instrumental in diagnosing monogenic disorders, uncovering the genetic basis of fetal anomalies, and investigating cases of stillbirth and recurrent pregnancy loss (RPL). However, despite its immense clinical utility, challenges such as the interpretation of variants of uncertain significance (VUS), ethical concerns surrounding incidental findings, and the financial burden associated with sequencing continue to impact its widespread adoption. Future directions in WES include its potential integration with non-invasive prenatal testing (NIPT), advancements in artificial intelligence (AI)-driven bioinformatics, and its role in precision medicine, offering more personalized and data-driven approaches to prenatal care. As technological innovations continue to enhance the speed, accuracy, and affordability of WES, its role as a cornerstone of modern prenatal diagnostics is expected to expand, shaping the future of fetal genetic screening and clinical decision-making.

population working or living in agriculture settings may experience important exposure to pesticides and other agents. Although some health effects associated with them are well known, for others (e.g., neurological diseases and lymphoid, hematopoietic and related tissue cancers) additional epidemiological evidence is needed. to investigate mortality for neurological diseases and cancer in workers employed in agriculture in Italy. case-control study using mortality data linked with working histories retrieved from the Italian National Social Insurance archive. countrywide mortality data from 2005 to 2018 were used. Cases were blue-collar workers with primary/middle school education who died from selected causes; controls were individuals with the same characteristics, but died from all other causes. Each participant was assigned to the economic sector in which he/she worked for the longest period. Cause-specific mortality odds ratios (MORs) adjusted for age class, educational level, year of death, and region of residence were estimated using logistic regression models in which exposure of interest was "ever/never" (or length of employment) in agriculture using the service sectors as (unexposed) reference category. Analyses were adjusted for or stratified by gender. MORs for causes of death within the groups of mental, behavioural and neurodevelopmental disorders (F01-F99), diseases of the nervous system (G00-G99), and malignant neoplasms (C00-C96)Results: about 64,000 workers employed in agriculture were included and compared with a control group of 107,000 workers in the service sector. Elevated mortality risk in agriculture workers was found for spinal muscular atrophy (MOR 1.26; 95%CI 1.03-1.56; 261 deaths) and Parkinson's disease (PD) (MOR 1.16; 95%CI 1.00-1.34; 742 deaths). As for cancer mortality, positive associations were found for non-follicular lymphoma (NFL) (MOR 1.59; 95%CI 1.03-2.46; 82 deaths), multiple myeloma (MM) (MOR 1.42; 95%CI 1.22-1.65; 546 deaths), and myeloid leukaemia (ML) (MOR 1.36; 95%CI 1.16-1.60; 474 deaths), as well as for stomach (MOR 1.30; 95%CI 1.20-1.41; 1,732 deaths), prostate (MOR 2.03; 95%CI 1.85-2.24, 1,582 deaths), and brain and central nervous system cancer (MOR 1.30; 95%CI 1.13-1.50; 601 deaths). PD, NFL, ML, cancers of skin, of connective and soft tissue, of prostate and of brain were found to involve mainly men. employment in agriculture has been associated with various health risks, some of which may be attributed to pesticides exposure. Although the use of the different agronomic categories of pesticides changed over time and some active ingredients were prohibited or limited, their health effects remain of concern for their large use, demanding further focused investigations and preventive measures.

In recent decades, survival rates for head-and-neck (H&N) cancers have risen, drawing attention to survivors' working reintegration after treatments. This cohort study aims to evaluate the effect of H&N tumours on the income of employees in the private sector in Italy. Data were extrapolated from the WHIP-Salute archive, which contains work and health information of workers of the private sector in Italy. Incident cases of H&N cancer (between 2004 and 2013) were matched with cancer-free workers using an Optimal Variable Ratio Matching. Linear regression models were used to estimate the effect of H&N tumours on weekly income in the year of diagnosis and in the subsequent two years, overall and stratifying according to sex, job position, and cancer stage. 592&#xa0;H&N cancer cases were identified, predominantly male (86%), blue-collar workers (72%), and with localized disease (60%). A significant decline in the average weekly income for workers with cancer compared to their cancer-free counterparts was evident, both in the year of diagnosis (&#x3b2;=-38.59, p&#x2009;<&#x2009;0.001) and in the next two years (&#x3b2;=-35.60, p&#x2009;<&#x2009;0.001, and &#x3b2;=-29.95, p&#x2009;<&#x2009;0.001, respectively). Similar trends were observed in stratified analyses. This study suggests a short-term disparity in weekly income between workers with H&N cancer and their cancer-free counterparts. Reasons may lie in reduced working capacity of patients following cancer treatments. Employer awareness about survivors' conditions can enhance workplace inclusivity. Furthermore, the implementation of ad-hoc policies may lead to a successful reintegration of H&N cancer survivors into the workforce.

Metabolic dysfunction-associated steatotic liver disease (MASLD) is increasingly recognized in patients with inflammatory bowel disease (IBD), but accurate, disease-specific predictive tools are lacking. This study aimed to identify key risk factors and develop tailored prediction models for MASLD in IBD patients. Material and methods: In a retrospective-prospective cohort of 157 IBD patients (Ulcerative colitis: 51.6%; Crohn's disease: 48.4%), we performed serial clinical, laboratory, and imaging evaluations across four clinical visits. Hepatic steatosis was assessed using transient elastography with controlled attenuation parameter (CAP >273 dB/m). Logistic regression identified independent risk factors for MASLD, leading to the development of an additive clinical score and a logistic regression-based score. Their diagnostic performances were compared with established indices (Hepatic steatosis index (HSI), Fatty liver index (FLI)). Results: MASLD was diagnosed in 37 patients (23.5%). Independent predictors included smoking (OR 3.55), dyslipidemia (OR 2.82), hypertension (OR 2.77), prolonged IBD duration, higher BMI, male sex, frequent disease flares, and corticosteroid exposure. The additive score (cut-off &#x2265;3) showed good sensitivity (36.1%) but high specificity (94%). The logistic score (cut-off &#x2265;3.5) achieved moderate specificity (45.3%) with excellent sensitivity (86.1%). Both models outperformed HSI (AUC 0.671) and FLI (AUC 0.701). CAP remained the most accurate tool (AUC 0.957). Conclusion: MASLD is highly prevalent in IBD patients, driven by both metabolic and disease-specific factors. The proposed clinical scores provide simple, accessible tools for early risk stratification, potentially guiding personalized surveillance in settings lacking advanced imaging technologies.

The endoscopic endonasal approach (EEA) has been increasingly utilized for interventions involving the middle cranial base because of its close anatomical relationship with the nasal cavity and nasopharynx. This technique is widely applied in neurosurgical and otorhinolaryngological practice for the management of pituitary lesions, sellar and parasellar pathologies, sphenoid sinus tumors, cavernous sinus lesions, and tumors of the nasal cavity and nasopharynx, offering improved surgical access and patient comfort. Endoscopic procedures may be associated with serious complications, including intracranial hemorrhage, pneumocephalus, cerebrospinal fluid (CSF) leakage, infection, and cranial nerve injury, which can occur in both early and late postoperative periods. We report a patient who developed early postoperative pneumocephalus, intracerebral hemorrhage, and CSF leakage following endoscopic endonasal biopsy of a lesion adjacent to the mid-cranial base. Based on clinical and radiological findings, the lesion was initially suspected to represent nasopharyngeal carcinoma. Therefore, the patient underwent an endoscopic endonasal biopsy rather than gross total resection. Histopathological and immunohistochemical analyses subsequently established the diagnosis of meningioma. Two weeks postoperatively, the patient developed CSF leakage, pneumocephalus, and intracerebral hemorrhage, and the skull base defect was repaired via an EEA. Subsequently, the patient developed hydrocephalus in the mid-to-late postoperative period, which was successfully treated with ventriculoperitoneal shunt placement, resulting in complete clinical recovery. This case highlights the need for close clinical and radiological follow-up not only in the early period but also in the mid-to-late postoperative periods. Furthermore, radiological findings suggestive of malignancy may be inconsistent with immunohistochemical results; this underscores the critical role of immunohistochemical examination in determining definitive diagnosis and prognosis.

Takotsubo cardiomyopathy (TTS) is an acute heart failure syndrome characterized by transient left ventricle (LV) systolic dysfunction, often triggered by physical or emotional stress. Although several registries, observational studies, and meta-analyses have demonstrated an association between malignancy and adverse outcomes in Takotsubo syndrome, data describing the interplay between cancer stage, treatment exposure, ventricular recovery, and mortality in patients with solid malignancies remain limited. Material and methods: We retrospectively analyzed adult patients with solid malignancies treated at a Comprehensive Cancer Center between November 2021 and December 2025 who developed Takotsubo syndrome. TTS was diagnosed according to the InterTAK Diagnostic Score together with characteristic echocardiographic findings and, when indicated, additional anatomical or tissue characterization. Demographic characteristics, cancer type and stage, clinical presentation, electrocardiogram and biomarkers findings, imaging results, and outcomes were collected. Primary outcome was all-cause mortality. Secondary outcomes included cause-specific mortality, recovery of left ventricular systolic function, and resumption of cancer therapy. Results: A total of 26 consecutive patients developed TTS during the study period. Median age 64.5 years (IQR 52.2 - 69.5); 61.5% were female. Advanced or metastatic cancer was present in 42.3% of patients. Sepsis occurred in 50.0%, and major cancer-related surgery in 30.8%. The median InterTAK Diagnostic Score was 75.5 (IQR 64.5-80.0); 73.1% of patients had scores &#x2265;70. Overall mortality was 38.5% (10/26), and all deaths were attributed to cancer-related causes; no cardiac-related deaths occurred. Advanced/metastatic disease was associated with higher mortality (80.0% vs. 18.8%, p = 0.015), and all deaths occurred in patients receiving non-curative treatment. In exploratory multivariable analysis, advanced/metastatic cancer was associated with increased odds of death (adjusted OR 11.49, p = 0.021). Follow-up echocardiography was available in 18 patients; all demonstrated normalization of left ventricular systolic function (LVEF &#x2265;50%), with a median time to documented recovery of 10 days (IQR 6-21). Conclusions: Takotsubo cardiomyopathy syndrome in patients with solid malignancies was associated with high cancer-related mortality, whereas left ventricular dysfunction was largely reversible among survivors. Outcomes appeared to be more associated with oncologic disease burden than with cardiac dysfunction.

Melkersson-Rosenthal syndrome (MRS) is a rare and often challenging condition of unknown etiology, typically defined by a clinical triad of peripheral facial nerve palsy, recurrent orofacial edema, and fissured tongue. Its variable presentation and overlap with allergic reactions, mast cell-mediated disorders, and drug hypersensitivity reactions can delay diagnosis and appropriate management. We report the case of a 43-year-old man with a personal long-standing history of recurrent hemifacial and lip swelling associated with facial nerve palsy and a plicated tongue, fulfilling the complete clinical triad of MRS. Extensive laboratory, immunological, infectious, and allergological investigations ruled out alternative diagnoses, including hereditary angioedema and drug hypersensitivity. Histopathological examination of a lip biopsy did not reveal granulomatous inflammation. The disease was refractory to multiple standard therapies, including antihistamines, corticosteroids, epinephrine, antibiotics, and immunomodulatory agents. Administration of fresh frozen plasma at a dose of 10 ml/kg resulted in a rapid and marked clinical improvement within 6 hours. This case highlights a rare complete presentation of MRS and underscores the challenges in diagnosis and management. The favorable response to fresh frozen plasma suggests a potential therapeutic option in refractory cases; however, further studies are required to clarify its role and mechanism of action in Melkersson-Rosenthal syndrome.

Cytokine release syndrome (CRS) is a potentially life-threatening inflammatory condition that can occur after immune-based therapies, such as bispecific antibodies. We present the case of a 66-year-old woman with relapsed/refractory multiple myeloma who developed fatal CRS following treatment with Teclistamab, a bispecific antibody that targets CD3 on T cells and B-cell maturation antigen on myeloma cells. The patient had previously achieved remission with rituximab, bortezomib, and autologous stem cell transplantation but experienced a relapse after eight years. Teclistamab was initiated with a step-up dosing regimen. Before treatment, she received premedication with intravenous fluids, steroids, and tocilizumab. Despite this premedication, the patient was readmitted with fever, chills, and shortness of breath, leukopenia, and hypoxia. Imaging studies indicated pneumonia. During her hospitalization, her condition deteriorated rapidly, resulting in respiratory failure and refractory shock. She was transferred to the intensive care unit (ICU), where she required mechanical ventilation and multiple pressor support. Despite aggressive resuscitation efforts, she progressed to multi-organ failure, and the family ultimately chose to withdraw care. CRS is characterized by a systemic inflammatory response with rapid and excessive release of cytokines, particularly IL-6, IL-2, IL-10, IFN-&#x3b3;, and GM-CSF. Severe CRS can clinically resemble sepsis. Management strategies include early recognition, supportive care, and immunomodulatory therapy, particularly with tocilizumab and corticosteroids. This case underscores the diagnostic and therapeutic challenges of differentiating severe CRS from infection. This case uniquely contributes to current understanding by highlighting the limitations of current premedication protocols and emphasizing the critical need for enhanced monitoring and rapid intervention protocols in managing Teclistamab-induced CRS. It highlights the critical need for prompt, targeted intervention to prevent fatal outcomes in patients receiving novel immunotherapies.

Anemia is a nearly universal complication of chronic kidney disease (CKD). While erythropoiesis-stimulating agents (ESAs) are the standard of care, they rarely induce acquired pure red cell aplasia (PRCA) via neutralizing anti-erythropoietin (anti-EPO) antibodies. Diagnosis is often delayed as clinical focus frequently shifts toward more common causes of acute anemia, such as hemorrhage. An 88-year-old male on maintenance hemodialysis presented with a precipitous hemoglobin drop to 6.8 g/dL. Investigation revealed replete hematinics but profound reticulocytopenia. After excluding occult gastrointestinal bleeding, hemolysis, and nutritional deficiencies, a bone marrow biopsy demonstrated isolated erythroid aplasia with preserved myeloid and megakaryocytic lineages, leading to a diagnosis of PRCA. Anti-EPO antibody testing was not performed, which limits definitive etiological confirmation. Due to the high risk of immunosuppression in an elderly patient and the limited accessibility of hypoxia-inducible factor-prolyl hydroxylase inhibitors (HIF-PHIs), management was restricted to ESA cessation and supportive transfusions. This case highlights the diagnostic approach for severe anemia and the significance of profound reticulocytopenia in PRCA. The definitive hallmark remains the detection of circulating anti-EPO antibodies paired with a bone marrow study demonstrating near-total depletion of erythroid precursors, but preserved myeloid and megakaryocyte lineages. Management includes the permanent cessation of ESAs, immunosuppression to reduce circulating antibodies, and supportive blood transfusions. In chronic hemodialysis patients, early recognition of iatrogenic PRCA is essential to prevent the continued administration of potentially harmful ESAs and to facilitate a transition toward alternative therapies, such as HIF-PHIs.

The development of an arterial pseudoaneurysm is an unusual complication of chronic pancreatitis. The most commonly involved artery is the splenic artery. This is a case report describing a case of a superior pancreaticoduodenal artery pseudoaneurysm in a patient with chronic pancreatitis who developed hemosuccus pancreaticus. A 46-year-old man with history of binge ethanol intake presented to the emergency department with abdominal pain. A computed tomography (CT) scan showed features of chronic pancreatitis along with a 2 x 1.8 cm enhancing mass at the level of the pancreatic head, consistent with an arterial pseudoaneurysm in close proximity to the pancreatic duct as confirmed on endoscopic ultrasound. He underwent an endoscopic retrograde cholangiopancreatography in the context of a rise in his liver enzymes with the presence of gallbladder sludge. This was complicated by hemosuccus pancreaticus, which was successfully managed with percutaneous angioembolization. Despite its unusual incidence, pseudoaneurysm remains an important complication of chronic pancreatitis with a high mortality rate in case of acute hemorrhage. Diagnostic modalities include abdominal CT and Color Doppler ultrasound. Endovascular techniques are considered to be the first line of therapy in most cases. Early recognition and management of pancreatic pseudoaneurysms is important to avoid life-threatening hemorrhage.

Malignant gastrointestinal neuroectodermal tumor (GNET) is a distinctive and relatively newly described neoplasm that is seldom encountered in routine clinical practice. It is characterized by a predominantly monomorphic population of polyhedral to epithelioid cells, exhibiting pale eosinophilic or clear cytoplasm, rounded nuclei with vesicular chromatin, and occasionally prominent eosinophilic nucleoli. These cells are arranged in a heterogeneous pattern, forming small nests, compact solid areas, and pseudo-papillary or pseudo-microcystic structures. Within the tumor, osteoclast-like giant cells may be a notable feature, although their presence is variable. This tumor consistently demonstrates positivity for S100, SOX10, and vimentin, while it is invariably negative for Melan-A, HMB45, desmin, CD117, and pan-cytokeratin. Additionally, it exhibits variable expression of the following immunohistochemical markers: synaptophysin, chromogranin, CD56, neuron-specific enolase (NSE), and neurofilament protein (NFP). A specific mutation in the Ewing's sarcoma breakpoint region 1 (EWSR1) gene has been described for GNET, characterized by EWSR1-CREB1 and EWSR1-ATF1 fusions. This article discusses the clinical, pathological, immunophenotypic, and genetic features of one clinical case of GNET, followed by a literature review of 127 cases published in the PubMed database, for which full-length articles were accessible. According to this review, approximately 10% of GNETs have been initially misdiagnosed, with about 6% being misclassified as neuroendocrine tumors or neuroendocrine carcinomas.

Upper extremity deep vein thrombosis (UEDVT) is an uncommon clinical condition, accounting for fewer than 10% of all deep vein thromboses. While catheter-associated thrombosis and anatomical abnormalities are well-recognized causes, spontaneous UEDVT may occasionally serve as the first manifestation of an underlying malignancy. We report the case of a 43-year-old previously healthy male who developed spontaneous thrombosis of the left subclavian vein. He tested heterozygous for the Factor V Leiden mutation. Imaging revealed a large anterior mediastinal mass compressing the brachiocephalic vein. Histopathology confirmed a teratoma with enteric-type adenocarcinomatous differentiation. The patient underwent neoadjuvant chemotherapy followed by complete tumor resection and remained recurrence-free at one-year follow-up. This case underscores the importance of thorough diagnostic evaluation in patients with idiopathic UEDVT, particularly in the absence of catheterization or mechanical triggers. We review the spectrum of malignancy-associated UEDVT, including mechanisms such as venous compression, invasion, and paraneoplastic hypercoagulability. Spontaneous UEDVT can be the initial clinical sign of an occult malignancy. Early imaging and hemostatic assessment are crucial for timely diagnosis and treatment.

Brain tumors, despite the high mortality and morbidity, they are a rare type of heterogenous tumors that are highly dependent on sex, age, race, level of education, and socioeconomic status. Due to their high mortality rates, it is important to identify as many potential biomarkers for early detection as the earlier the tumor is discovered, the better the prognosis. One such early biomarker we propose in the current paper is the assessment of anxiety, depression, and cognitive changes. In most cancer patients, a certain degree of anxiety and depression is expected upon receiving the diagnosis as it triggers fears regarding the prognosis, possible side effects of the treatment, and even the possibility of the treatment failing. In this paper we analyzed the way anxiety, depression, and cognitive changes present themselves in the case of several types of tumors and whether these could be used as early markers. We have observed that most of the cognitive changes present are due to the location, size, and type of the tumor with some highly connected to anxiety and depression. Moreover, in the case of certain tumors, the removal of the mass has not improved the mood or cognitive function.

Down syndrome (DS) is the most common chromosomal abnormality in the human population, most frequently caused by trisomy 21 due to meiotic nondisjunction. Rarely, DS may result from an isochromosome or a Robertsonian translocation, this being the least common variant. We present a rare prenatal case of Down syndrome caused by a derivative chromosome 21, together with a case-based review of previously reported prenatal der(21;21)/i(21q) rearrangements. We report a case of prenatal diagnosis of DS in a 13-week female fetus, characterized by a derivative chromosome 21, der(21;21)(q10;q10), identified by conventional karyotyping and subsequently confirmed by fluorescence in situ hybridization (FISH). First-trimester ultrasonography showed bilateral jugular lymphatic sacs, marked tricuspid regurgitation, and a single umbilical artery. Quantitative fluorescence polymerase chain reaction (QF-PCR) failed to detect the structural chromosomal abnormality. The rearrangement was considered likely de novo based on normal parental karyotypes. Consequently, the empirical recurrence risk is 1% for de novo cases, whereas in families with a parental 21q;21q rearrangement the recurrence risk may approach 100%. This case highlights the importance of integrating detailed ultrasound screening with molecular and cytogenetic techniques, including QF-PCR, conventional karyotyping, and FISH, for accurate prenatal diagnosis of DS. Precise determination of the underlying chromosomal abnormality is essential for providing accurate genetic counseling, estimating recurrence risk, and facilitating informed reproductive planning for the parents.