bluuebunny/crossref_metadata_2025_split huggingface dataset:
Uncovering underlying cause for heart failure in a 51-year-old woman with fibromuscular dysplasia
Authors: Masood A , Kruse E , Ashfaq M 
Published: October 2024

Abstract

Introduction/Objective
Arrhythmogenic cardiomyopathy is a rare disorder characterized by the replacement of the myocardium with fibroadipose tissue, usually affecting the right ventricle and rarely affecting the left.

Methods/Case Report
We present the case of a 51-year-old woman with past medical history including fibromuscular dysplasia of the internal carotid arteries and suspected ischemic cardiomyopathy with reduced ejection fraction awaiting heart transplant. The patient suffered a spontaneous coronary artery dissection eight years prior, which was the inciting factor that led to the decline in her cardiac function. After transplant, gross examination of the explanted heart showed a moderate amount of epicardial fat and visible intramural ventricular adipose tissue deposits in the myocardium. On histology, both the right and left ventricle walls showed extensive microscopic fatty infiltration along with focal involvement of the interventricular septum. These findings supported the final diagnosis of arrhythmogenic cardiomyopathy of the right and left ventricle, as well as involvement of the interventricular septum making this case especially rare. There were no signs of infarct or ischemic damage, contrary to what was expected given her diagnosis of ischemic cardiomyopathy.

Results (if a Case Study enter NA)
NA

Conclusion
The pathological work-up of this case shed light on the true nature of the patient’s cardiomyopathy and has prompted further genetic testing, as arrhythmogenic cardiomyopathy can be caused by several different genetic mutations. In addition to this work-up, a thorough literature review was performed looking for connections between arrhythmogenic cardiomyopathy and fibromuscular dysplasia, as arrhythmogenic cardiomyopathy is not often seen in this setting. Although no direct connection between the two was uncovered, it was found in the literature that a polymorphism in the Phosphatase and Actin Regulator 1 (PHACTR1) gene has been identified as a genetic component of fibromuscular dysplasia. This variant has been linked to spontaneous coronary artery dissection, which our patient experienced at the young age of 43. This could prompt further genetic investigation into her fibromuscular dysplasia in addition to the genetic work up already being done for her arrhythmogenic cardiomyopathy. This case highlights how rare etiologies can be uncovered through diligent histological analysis, and how further analysis using laboratory techniques such as genetic testing can help patients understand the full breadth of their conditions.
Knowledge, Attitude and Practices of Pesticides Use and Serum Cholinesterase Level Among Farm Workers in Bhaktapur – A Cross Sectional Study
Authors: Suwal R , Bataju M , Shrestha V L , Shrestha A 
Published: October 2024

Abstract

Introduction/Objective
Pesticides use has been an integral part of modern agricultural practices. Lack of knowledge and unsafe handling of pesticides uses have kept the farm workers in the frontline of vulnerability. Serum cholinesterase show a dose-exposure relationship with organophosphorus. This study aims to identify the existing knowledge, attitude and practices of pesticides use among farm workers and to measure the serum cholinesterase level before and after spraying of the pesticides.

Methods/Case Report
This is a cross-sectional study carried out among farm workers of Madhyapur Municipality, Bhaktapur, Nepal. Ethical clearance was obtained from Nepal Health Research Council, Nepal. House hold survey was carried out for the knowledge, attitude and practices of pesticides use using structured questionnaires. Written consent was taken. Blood was collected twice, before and after spraying season for 97 farm workers. Serum cholinesterase was analyzed in the vitros 4600 biochemistry analyzer. Paired t-tests and chi square tests were used for statistical analysis.

Results (if a Case Study enter NA)
The mean cholinesterase of farm workers before and after pesticide spraying was 6.92±1.47 U/mL and 6.49±1.47 U/mL respectively, with p value of &lt;0.001. There were also significant differences of serum cholinesterase level among farm workers before and after pesticide spraying on the basis of education level, type of involvement either full time or part time and prior integrated pest management training. This study found that 63% of respondents had good knowledge on pesticides while 25% had average and 12% had poor knowledge.
Similarly, this study also found that 54% of respondents had good knowledge on pesticides use while 26% had average and 20% had poor knowledge. However, this study showed that only 44% of farm workers had good practice. Association between knowledge of pesticide and practices and between knowledge of pesticides use and practices were statistically significant with p-value of 0.001 and 0.001 respectively.

Conclusion
There is a significant difference in the level of serum cholinesterase before and after spraying pesticides in farm workers. Lack of education, lack of integrated pest management training and poor practices of pesticides use are the reasons behind the difference in the serum cholinesterase level.
The enigma of KMT2A gene in hematological disorders
Authors: Zehra S A , Mansoor N 
Published: October 2024

Abstract

Introduction/Objective
Presence of distinct MLL rearrangements is an independent dismal prognostic factor. Rearrangements of the histone lysine [K]- MethylTransferase 2A gene (KMT2A) on chromosome 11q23, formerly known as the mixed-lineage leukemia (MLL) gene, are found in 10% and 5% of adult and children with acute leukemia respectively. Chromosome 11 breakpoints are typically localized to band 11q23.3, frequently altering the proto- oncogene KMT2A/MLL whereas partner chromosomes involved in translocation may vary. More than 80 different gene partners involved in this fusion have been described, although the majority of leukemias results from 6 common partner genes. KMT2A gene rearrangement are associated with poor prognosis in both Lymphoid and Myeloid leukemia.

Methods/Case Report
A retrospective study conducted in Cytogenetic laboratory of The Indus hospital, Karachi. All karyotype cases (age 1-60 year) with chromosome 11 aberrations were included from October 2020 to December 2022. Karyotype and FISH performed using G-banding and break a part probe for MLL respectively.

Results (if a Case Study enter NA)
Total of 923 cases received for karyotyping out of which 32(3.4%) cases were reported for 11q23 abnormalities. The median age was 5 (1.25-12.5) years, majority 15 (47%) were 1-10 years, 9(28%) were &gt;10 years and 7(22%) were &lt;1 years. M:F ratio was 1.9:1. B-ALL were 19(59.4%), AML 8(25%), and 5 (15.6%) were others. FISH performed in 23(72%) cases, 21 (91%) showed concordance with karyotype. The t(9;11) was the commonest 7(22%), followed by t(4;11) and (1;11). Chromosome 9 was the most common partner identified in B-ALL. Loss of 11q23 observed in 3 (13%) cases.

Conclusion
The findings underscore the heterogeneity of partner chromosomes involved in KMT2A gene rearrangements and emphasize the importance of employing both FISH and karyotyping for comprehensive detection. The high concordance rate between the two methods supports their complementary roles in clinical diagnostics.
Understanding the specific translocations and partner chromosomes associated with MLL gene rearrangements contributes valuable insights for prognostication and targeted therapeutic strategies in acute leukemia. FISH and karyotype showed 91% concordance to detect this aberration.
Culture failure and suboptimal analysis in cytogenetics: A data review as a quality improvement metric from a resource-limited country
Authors: Mansoor N 
Published: October 2024

Abstract

Introduction/Objective
Conventional cytogenetic failures can affect hematological cancer diagnosis and prognosis. Resource-constrained regions without contemporary genetic testing facilities may experience this impact more. The effectiveness of this technique is contingent on cultural success, availability of metaphases, and morphological adequacy. The results can be influenced by the underlying diagnosis, inherent biological features of the leukemic clone, sample conditions, and transit time. Culture failure (CF) and suboptimal analysis (SOA) data can identify problems and set standards. Thus, we designed a cohort to find areas of improvement and reduce negative contributing factors, making this cytogenetic technique more accessible and cost-effective.

Methods/Case Report
A retrospective study was conducted at Cytogenetics laboratory at Indus hospital, Karachi. From January 2021 to March 2023, 1234 blood and bone marrow samples were processed. CF was defined as no growth, whereas suboptimal cases showed a low mitotic index or poor morphology. Data analysis included collection and processing time, sample volume, cell count, specimen type, in-house or out-reach sample, and diagnosis.
Armonk, NY-based IBM SPSS 24.0 used to analyze the data. Chi-square used to find association of various factors with karyotyping. A p-value &lt; 0.05 indicated significance.

Results (if a Case Study enter NA)
Of 1234 samples, 1110 (90%) were bone marrow and 124 (10%) were peripheral blood. There were 32/1234 (2.6%) CF cases. Each CF case was found in bone marrow samples, making the true incidence 32/1110 (2.9%). Constitutional blood tests found no CF in 124 samples. Additionally, chromosomal analysis quality was assessed. SOA occurred in 105/1234 (8.5%) instances, with 58% having poor morphology and 31% having a low mitotic index. Among 137 CF and SOA patients, 134/1110 (12%) were found in marrow and 3/124 (2.4%) in blood.

Conclusion
Lower CF rates suggest that appropriate standards and quality management may reduce cytogenetic failure rates despite resource constraints and newly established services.
Cardiac Angiosarcoma with Unusual Cytologic Features Causing Cardiac Tamponade in a Young Adult Patient
Authors: Chiu R , Salehiazar S , Miranda-Taylor M M , Peng S , Yap C G 
Published: October 2024

Abstract

Introduction/Objective
Cardiac angiosarcoma is a rare endothelial malignancy with poor prognosis, frequent metastasis, and short median survival of only a few months. The disease has a wide age spectrum and can occur in young adult patients. The cytological diagnosis of cardiac angiosarcomas is challenging as cases are rare and its cytology is not extensively described or reported in literature. Here, we describe a rare case of cardiac angiosarcoma with unusual cytologic features.

Methods/Case Report
Our patient is a 30 year old male presenting with three days of worsening dyspnea and palpitations and was discovered on ultrasound to have large pericardial effusion compressing the right ventricle and causing cardiac tamponade. CT/MRI imaging revealed a 4.5 x 4.3 x 2.6 cm mass inside the right ventricle with extra- cardiac invasion through the pericardium and into the anterior mediastinum. Pericardiocentesis yielded 1.5 liters of hemorrhagic, brown, pericardial fluid with elevated LDH and protein levels. Cytology of the pericardial fluid revealed numerous tumor cells occurring singly or in monolayered, acinar clusters or cohesive spheres containing amorphous, eosinophilic cores made of collagen as evidenced on trichrome stain. The tumor cells possessed hyperchromatic, irregular, variably sized nuclei, prominent nucleoli, and cytoplasmic vacuoles. The tumor cells were positive for vimentin, CD31, and CD34, and showed high Ki67 proliferation index &gt; 50%. A catheter-mediated biopsy of the right ventricular mass revealed spindled and epithelioid tumor cells strongly positive for CD31, CD34, and vimentin, focally positive for Factor VIII and AE1/AE3, and showing high Ki67 proliferation index of roughly 50%. The cytological, histological, and immunohistochemical findings were most consistent with cardiac angiosarcoma as the diagnosis.
The patient eventually developed worsening chronic left chest pain and expired from cardiac arrest six months after his diagnosis.

Results (if a Case Study enter NA)
NA

Conclusion
We report a rare case of cardiac angiosarcoma with unusual cytologic features, manifesting as acinar clusters and cohesive spheres with collagenous cores that are not typical of malignant endothelial neoplasms.
Currently there are no effective, standardized therapies that can significantly prolong survival for this malignancy, and treatment is often palliative. The cytological diagnosis of cardiac angiosarcoma is challenging given the rarity of this disease and the paucity of literature describing its cytology.
ONYCHOMATRICOMA, A RARE NAIL TUMOR
Authors: Tahir M , Phung T , Nguyen Luu T 
Published: October 2024

Abstract

Introduction/Objective
Nail apparatus tumors are rare and can pose diagnostic challenges. Onychomatricoma (also called onychomatrixoma) is a rare tumor first described in 1992. It is a benign biphasic fibroepithelial tumor of the nail. It has been reported in Caucasians, often in females with a peak incidence in the fifth decade of life. Rare cases are also reported in children. The common location is in the fingernail (75%), presenting with yellowing of the nail plate (xanthonychia) and thick longitudinal band. Cutaneous horn, melanonychia, nail bleeding, and nail deformity with or without bony extension can also be seen. Histologic findings show increased nail thickness surrounded by a layer of Malpighian epithelium. The fibroepithelial tumor shows hyperplasia of two components including onychogenic epithelium and mesenchymal stroma.

Methods/Case Report
A 65-year-old Vietnamese female presented with longstanding dark yellowish ridging discoloration, thickening and nail plate deformity of the left fourth fingernail with appearance of onychomycosis. However, KOH mount and fungal cultures of the nail plate were negative for fungal microorganisms. There was no history of pain, trauma, or prior treatment.
Microscopic analysis of transverse and longitudinal sections of the nail shows a biphasic neoplasm that penetrates the nail plate with multiple digitations. There was deep finger-like epithelial cell strands that form anastomosis as well as invaginations into the dermis. Characteristic filiform projections are lined by onychogenic epithelium composed mostly of basal and supra-basal cells that lack granular and corneum layers. The stroma was hypercellular and fibrillary with spindle-shaped fibroblastic cells, and a deep layer with dense collagen. Immunohistochemical stains of the lesion show diffuse expression for CD10 and CD34 in the stroma and negativity for Periodic Acid Schiff staining.

Results (if a Case Study enter NA)
N/A

Conclusion
While most of the literature on onychomatricoma has been reported in Caucasian population, little is known about this tumor in non-Caucasians. This case report of onychomatricoma in a Vietnamese woman contributes to the emerging literature of this rare nail apparatus tumor in non-Caucasian population. Clinical and histopathologic correlation is important to achieve prompt and correct diagnosis since delay would result in nail dystrophy and deformity.
Medical students’ perceptions of live versus recorded pathology lectures at a South African medical school during the Covid-19 pandemic: unique lessons for undergraduate pathology education in a diverse student population
Authors: McGrath N G 
Published: October 2024

Abstract

Introduction/Objective
The morphological depiction and interactive learning vital to the core discipline of anatomical pathology posed specific challenges during emergency remote teaching (ERT) in the COVID 19 pandemic. Using voice-over PowerPoint presentations (VoPPPs) in anatomical pathology at Wits University in Johannesburg, South Africa during this time provided a unique opportunity to determine students’ perceptions of this teaching and learning modality.

Objective
To determine a South African medical students’ perceptions of live lectures vs online learning with VoPPPs during the Covid-19 pandemic.

Methods/Case Report
A descriptive, cross-sectional, online survey was sent to 326 4th year medical students in 2020. The questionnaire consisted of closed- and open-ended questions. Descriptive and inferential statistical tests were conducted on the quantitative data. Content analysis was performed on the open-ended responses.

Results (if a Case Study enter NA)
The survey response rate was 56.75%. Respondents preferred the traditional lecture format to the exclusive use of VoPPPs (48.6% to 34.6%) for pathology learning. Respondents appreciated the flexibility of learning from VoPPPs, resulting in blended learning being the preferred approach (45.9% vs 44.3 for live lectures only and 9.7% for VoPPPs only, respectively). Respondents indicated a need for more effective use of VoPPPs regarding the depiction of pathology images, more opportunities for feedback, and more online learning modalities in addition to VoPPPs. Some respondents from rural areas stated that their home study environments were not conducive to online learning modalities.

Conclusion
Blended learning combines the interactivity possible in contact sessions with the time benefits of online learning for undergraduate pathology education. However, educators should use various online methods rather than relying solely on VoPPPs. This is especially important when considering the visual nature of pathology lectures.
Where VoPPPs are used, they should be used effectively, mainly using good quality, labelled images to depict morphology. The preference for blended learning offers exciting possibilities for developing integrated learning platforms in the future, however, these must be tailored to suit the needs of students from economically and ethnically diverse backgrounds.
Enhanced Antidiabetic Effects of Gymnema sylvestre and Probiotics in Alloxan-Induced Diabetic Rats
Authors: Abdelmonem M , Wasim H , Ghanem A , Elebeedy D , Abdelmaksoud A , Badawy I 
Published: October 2024

Abstract

Introduction/Objective
Introduction: Gymnema sylvestre is a well-known herbal remedy for diabetes, with its anti-diabetic properties attributed to gymnemic acids isolated from its leaves. Probiotics, such as Lactobacillus acidophilus and Lactobacillus casei, have also shown potential in managing diabetes. This study aims to evaluate the combined antidiabetic effects of G. sylvestre and probiotics in alloxan-induced diabetic rats.

Methods/Case Report
Methods: Experimental rats were divided into seven groups: negative control, untreated diabetic control, L. acidophilus-treated, L. casei-treated, G. sylvestre-treated, a combination of L. casei and G. sylvestre-treated, and a combination of L. acidophilus and G. sylvestre-treated. Blood glucose levels, lipid profiles, and reduced glutathione levels were measured, and histopathological examination of pancreas and kidney tissues was performed.

Results (if a Case Study enter NA)
Results: In the third week of the experiment, the combined administration of G. sylvestre and probiotics showed the most significant reductions in glucose levels (250 mg/dL), alkaline phosphatase (ALP) (613.3 U/L), urea (31 U/L), serum creatinine (0.77 U/L), and superoxide dismutase (SOD) (854.7 UMOL). G. sylvestre alone exhibited the lowest levels of glutamate pyruvate transaminase (GPT) (30 U/L), cholesterol (41 mg/dL), triglycerides (101.3 mg/dL), very-low-density lipoprotein (VLDL) (22.9 mg/dL), and malondialdehyde (MDA) (119.3 U MOL/SEC). Probiotic treatment alone resulted in the lowest levels of uric acid (UA) (4.4 U/L) and low-density lipoprotein (LDL) (95.06 mg/dL). G. sylvestre demonstrated the highest level of high-density lipoprotein (HDL) (44 mg/dL), while probiotics exhibited the highest catalase (CAT) activity (92 UMOL/SEC). Histopathological examination revealed the preservation of normal pancreatic and renal tissue morphology with G. sylvestre treatment.

Conclusion
Conclusion: The combination of G. sylvestre and probiotics enhances the antidiabetic activity compared to G. sylvestre alone in alloxan-induced diabetic rats. These findings suggest a potential synergistic effect of combining herbal and probiotic therapy for diabetes management.
Clinical Rarity Unveiled: Adenocarcinoma with Enteroblastic Differentiation at the Gastroesophageal Junction in a Young Patient - A Diagnostic Challenge Shaping Therapeutic Paradigms
Authors: Baban Y , Kumar V , Ganesan S , Loeffler A , Wang Y 
Published: October 2024

Abstract

Introduction/Objective
This report details a case of a young patient diagnosed with an adenocarcinoma with enteroblastic differentiation at the gastroesophageal junction (GEJ), characterized by Alpha-Fetoprotein (AFP) production. This manifestation previously rarely documented in young patients (25-44 years old), underscores the critical role of precise pathology diagnosis in guiding effective patient management.

Methods/Case Report
The patient’s clinical presentation included chest pain, abdominal pain, and weight loss, prompting imaging studies revealing liver masses, lesions in the lung and adrenal gland, and retroperitoneal adenopathy with unremarkable testicular findings. Rapidly progressing dysphagia led to a liver biopsy and esophagogastroduodenoscopy (EGD), where a fungating mass extending from the distal esophagus into the stomach was biopsied. A subsequent serologic test unveiled an elevated serum AFP level (approximally 31, 000 ng/ml).

Results (if a Case Study enter NA)
Histological examination revealed similarities between the liver and distal esophageal tumors, characterized by moderately differentiated carcinoma with solid and glandular growth patterns. The tumor cells, resembling fetal gut epithelium, exhibited positive immunostaining for SALL4, AFP, CK8-18, CK19, and CDX2. A diagnosis of adenocarcinoma with enteroblastic differentiation at the GEJ was determined, correlating with clinical and radiological assessments. Despite initiating one cycle of gastrointestinal related chemotherapy, the patient succumbed to tumor lysis syndrome within a month of diagnosis.

Conclusion
This case highlights the critical need for a comprehensive differential diagnosis when encountering young patients with AFP-producing malignancies. Although metastatic non-seminomatous germ cell cancer is a primary consideration, upper gastrointestinal adenocarcinoma with unique characteristics, as demonstrated in this case, requires distinct therapeutic approaches, emphasizing the importance of accurate and timely diagnosis.