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BACKGROUND: Pilocytic astrocytoma (PAs) represents a significant portion of childhood primary brain tumors, with distinct histological and radiological features. The prevalence of KIAA1549::BRAF fusion in PAs has been well-established, this study aims to assess the prevalence of KIAA1549::BRAF fusions and explore their associations with tumor characteristics, radiological findings, and patient outcomes in PAs. METHODS: Histologically confirmed cases of PAs from a 5-year period were included in the study. Demographic, histopathological, and radiological data were collected, and immunohistochemistry was performed to characterize tumor markers. FISH and qRT-PCR assays were employed to detect KIAA1549::BRAF fusions. Statistical analyses were conducted to examine associations between fusion status and various other parameters. RESULTS: Histological analysis revealed no significant differences in tumor features based on fusion status. However, younger age groups showed higher fusion prevalence. Radiologically, fusion-positive cases were distributed across different tumor subtypes SE, CWE and NCWE. Survival analysis did not demonstrate a significant impact of fusion status on overall survival, however most cases with recurrence and death harboured KIAA1549::BRAF fusion. Of 200 PAs, KIAA1549::BRAF fusions were detected in 64 % and 74 % of cases via qRT-PCR and FISH, respectively. Concordance between the two platforms was substantial (86 %). CONCLUSION: KIAA1549::BRAF fusions are prevalent in PAs and can be reliably detected using both FISH and qRT-PCR assays. Cost considerations suggest qRT-PCR as a more economical option for fusion detection in routine clinical practice.
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Astrocitoma , Biomarcadores Tumorais , Neoplasias Encefálicas , Proteínas de Fusão Oncogênica , Proteínas Proto-Oncogênicas B-raf , Humanos , Feminino , Masculino , Criança , Astrocitoma/genética , Astrocitoma/patologia , Pré-Escolar , Proteínas de Fusão Oncogênica/genética , Proteínas Proto-Oncogênicas B-raf/genética , Adolescente , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patologia , Lactente , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Imuno-Histoquímica/métodos , Hibridização in Situ Fluorescente/métodos , Adulto JovemRESUMO
AIMS AND OBJECTIVES: To study the clinical profile of patients with glomerular diseases and to study pattern of glomerular diseases in adults. METHODOLOGY: A hospital based retrospective observational study from North Eastern India that includes biopsy proven glomerular disease (GD) in adults. Patients with inadequate biopsy sampling; incomplete medical data and biopsy of transplanted kidney were excluded. RESULTS AND OBSERVATIONS: A total of 102 patients were included of which 25 (24.5%) were male and 77(75.5%) were female with M: F ratio of 0.32:1. The mean age of presentation was 30.6 years. Nephrotic syndrome (57.8%) was the commonest clinical diagnosis followed by acute nephritic syndrome (31.4%), unexplained AKI (5.9%), unexplained CKD with normal kidney size (2.9%) and asymptomatic urine abnormality (1.9%). On histo-pathological analysis primary GD and secondary GD was diagnosed in 46(45.1%) and 53(52.0%) respectively. Overall Lupus nephritis (LN) was found to be the commonest (41.2%) GD. Among the primary GD, MCD (11.8%) was the most frequent followed by MPGN (10.8%), Membranous Nephropathy, (5.8%), IgA nephropathy (5.8%) and Focal segmental glomerulosclerosis (5.8%). Three (2.9%) patients did not have any specific diagnosis and were labelled as chronic glomerulo- nephritis.. CONCLUSIONS: As the pattern of glomerular disease varies from one region to another, the pattern of glomerular disease in the north eastern India also varies from the other regions of India. Nephrotic syndrome remains the most common indication of renal biopsy in this region similar to the other parts of India. Unlike other studies from outside North Eastern India, this study show that females are more commonly involved with majority of them having secondary GD and this is due to LN which was diagnosed as the most common GD in the present study.
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Nefropatias/epidemiologia , Síndrome Nefrótica , Adulto , Biópsia , Feminino , Humanos , Índia/epidemiologia , Rim , Masculino , Estudos RetrospectivosRESUMO
Malignant melanoma is an aggressive neoplasm primarily involving the skin. They may arise de novo or from a premalignant melanocytic lesion. Melanomas are primarily known to occur in adults. Pediatric melanomas (PM) are rare and predominantly occur de novo following ultraviolet deoxyribonucleic acid (DNA) damage. They may also be associated with the presence of congenital melanocytic nevi. We report a rare case of a 6-year-old child with multiple melanocytic nevi subsequently diagnosed with melanoma of the back and metastatic disease.
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Objectives: This study was undertaken to study the prevalence of human papillomavirus (HPV) infection using the polymerase chain reaction (PCR) technique in abnormal cervical pap smears and to correlate the different cytological results with HPV infection. Material and Methods: A total of 1788 cervical pap smears of women more than 30 years of age conducted over a period of 1 year 3 months (June 2015-August 2016) were screened by liquid-based cytology. High-risk (HR)-HPV testing was performed by PCR in abnormal lesions. Inflammatory smears and some atypical squamous cells of undetermined significance (ASCUS)-reactive cases were excluded from HPV testing. Histopathological correlation was done wherever possible. Results: The overall prevalence of the intraepithelial lesions/malignancy was ASCUS. (ASCUS) - 79 (4.42%), atypical squamous cells cannot exclude high-grade squamous intraepithelial lesion (ASC-H) - 10 (0.56%), low-grade squamous intraepithelial lesion (LSIL) - 26 (1.45%), high-grade squamous intraepithelial lesion (HSIL) - 15 (0.84%), squamous cell carcinoma - 5 (0.28%), and adenocarcinoma - 1 case (0.06%). Overall, 136 (7.60%) samples were classified as abnormal. Seventy-seven samples were included for HR-HPV testing - 20 ASCUS, 10 ASC-H, 26 LSIL, 15 HSIL, and 6 malignant cases. A control group of ten samples with normal cervical cytology within the normal limit (Control) (WNLc) was tested for HR-HPV. HR-HPV was detected in 20% of samples of the WNLc group, 45% of the ASCUS group, 70% of the ASC-H group, 73.07% of the LSIL group, 86.67% of the HSIL, and 83.34% of the samples in the malignant group. Overall, HR-HPV was detected in 68.83% of abnormal cervical pap smears. Conclusion: Our study shows that the percentage of HR-HPV-positive case increases with the severity of cytologic morphology. HPV had 4 times higher positivity in squamous intraepithelial lesion as compared to ASCUS.
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Background Natural killer cells (NK cells) are important mediators of innate immune regulation and literature has shown that they have a role in shaping the adaptive immune system. Objective The present study was undertaken to analyze the NK cell count in systemic lupus erythematosus (SLE) patients as compared to that of controls. Materials and methods Safety of Estrogens in Lupus Erythematosus National Assessment SLE Disease Activity Index (SELENA-SLEDAI) score was assessed in 32 SLE cases. CD3(-) cells were identified as NK cells on flow cytometry, and then their subsets CD56(+) and CD16(+) cells were identified compared to 30 healthy controls. Receiver Operating Characteristic (ROC) curve analysis was performed on NK cells to attempt to determine a cut-off point. Results The CD3(-) NK cells, including the percentages of CD56(+) and CD16(+), were significantly (p<0.001) reduced in SLE patients (12.35%, and 18.7%) as compared to controls (24.67%, and 46.6%). On ROC curve analysis, cut-off values <481/cumm with sensitivity of 86.7% and specificity of 84.4% for CD3(-) NK cells (p<0.001), <23% with 60% sensitivity and 75% specificity for CD56(+) NK cells (p<0.001), and <29% with sensitivity of 70% and specificity of 87.5% for CD16(+) NK cells (p<0.001) were noted. Subsets of NK cells showed no association with the clinicopathological parameters like age, sex, disease activity, anti-nuclear antibodies (ANA), dsDNA, absolute lymphocyte count, and renal involvement. Conclusion NK cells, and their subpopulations of CD56(+) and CD16(+) cells, are decreased in patients with SLE as compared to controls.
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Background Lupus nephrtis in children is associated with high morbidity and mortality. The incidence of childhood systemic lupus erythematosus (SLE) ranges from 3.3 to 8.8/100000 children with a higher Asian preponderance. The predominance of SLE in female pediatric patients increases gradually with age to the values observed in adults. Objectives To assess the clinical, immunological, and histopathological spectrum of childhood lupus nephritis in northeast India and explore the relationship between clinical, biochemical, serological, and histopathological findings. Materials and Methods A retrospective descriptive study was performed over 8 years. Histopathology slides were reviewed by two pathologists, whereas other details were collected from patients' records. Statistical Analysis Statistical analysis was based on the chi-square test and a p -value < 0.05 was considered statistically significant. Results Fifty-three cases of lupus nephritis were included in the study. The patients' age ranged from 5 to 18 years with a mean age of 14.5 years and a female: male ratio of 6.5:1. Edema and hypertension were the commonest clinical presentations, whereas proteinuria was the commonest presenting laboratory parameter. Amongst all the immunological markers, dsDNA was the commonest. Histopathologically, predominantly study population belonged to class IV lupus nephritis. The patients with class IV showed a statistically significant correlation with proteinuria and hematuria at the time of diagnosis. Immunological markers, namely, ANA and anti-ds-DNA positivity were significantly associated with advanced renal histopathology. Conclusion cSLE in northeast India presents mostly as Class IV LN presenting mostly with deranged laboratory parameters and preponderance of various immunological markers and clinical presentations.
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Objectives: To investigate clinical implications of epithelial mesenchymal transition (EMT) expression in oral cavity squamous cell carcinoma (OSCC). Materials and. Methods: E-cadherin and vimentin expression was studied in 50 newly diagnosed cases of OSCC who underwent surgical excision. EMT expression at non cold spot infiltrative margin and cold spot was studied and correlated with prognostic factors and disease-free survival (DFS). Results: EMT expression at the cold spot and non-cold spot infiltrative margin showed significant results with nodal status (P < 0.001, P < 0.009 respectively). On multivariate analysis, only EMT at the cold spot correlated significantly with prognostic factors (P < 0.030). The factors affecting DFS on Kaplan Meier index were EMT expression and differentiation (P < 0.002, P < 0.016 respectively) which proved significant in cox regression analysis. Conclusion: The study reveals that EMT expression at the cold spot is a significant biomarker for predicting lymph-node metastasis and tumor recurrence in OSCC.
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Carcinoma de Células Escamosas , Neoplasias de Cabeça e Pescoço , Neoplasias Bucais , Biomarcadores Tumorais/análise , Caderinas/metabolismo , Carcinoma de Células Escamosas/diagnóstico , Transição Epitelial-Mesenquimal , Humanos , Neoplasias Bucais/diagnóstico , Recidiva Local de Neoplasia , Prognóstico , Carcinoma de Células Escamosas de Cabeça e Pescoço , Vimentina/análiseRESUMO
Introduction: Pancytopenia is a hematological condition in which there is a reduction in all three cell lines of blood. This study aims to evaluate the utility of reticulocyte indices such as reticulocyte % (retic %), immature reticulocyte fraction (IRF), and mean reticulocyte volume (MRV) in identifying the cause of pancytopenia. Materials and Methods: Reticulocyte indices were measured by an automated coulter. These values were then correlated with relevant biochemical and bone marrow results and cases were stratified into different etiological groups. Receiver operator curve (ROC) analysis was performed and various cut-off values were derived based on the reticulocyte indices. ROC was repeated to further classify cut-off values at every level to help formulate a diagnostic algorithm. Results: A total of 154 cases of pancytopenia were obtained. Ages ranged from 7 months to 87 years with a mean of 42, the male:female ratio was 1.08:1. The majority of the cases were megaloblastic anemias in which the cut-off values for retic % was <0.91 with a sensitivity of 78.1% and specificity of 70%, IRF was 0.45 with a sensitivity of 76.7% and specificity of 64%, and MRV was >121.8 fl with a sensitivity of 83.6% and specificity of 80%. The values on ROC could segregate nutritional from nonnutritional causes. The IRF and MRV also helped to differentiate megaloblastic anemia from dual deficiency anemia. Conclusion: Reticulocyte indices help identify the cause of pancytopenia. They can segregate nutritional anemia from other causes of pancytopenia allowing presumptive treatment to be initiated and may obviate invasive procedures such as bone marrow examination.
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Hepatosplenic T cell lymphoma (HSTCL) is a very rare and aggressive peripheral T cell lymphoma that comprises less than 1% of Non-Hodgkin lymphomas (NHL). It is derived from cytotoxic T-cells, usually of γδ T cell receptor type, and is characterized by primary extranodal disease with typical sinusoidal infiltration of the liver, spleen and bone marrow by medium-sized lymphoid cells. HSTCL occurs more frequently in immunocompromised patients, especially in those receiving long-term immunosuppressive therapy. The differential diagnosis is varied, and the clinical course is dismal with a poor response to currently available therapies. Herein we report a case of HSTCL in a 20-year-old immunocompetent male who presented with fever, pallor, weight loss, bicytopenia, hepatomegaly, and massive splenomegaly, highlighting the diagnostic conundrum and pointers towards an accurate diagnosis. The key role for diagnosis was the combination of morphologic finding of atypical lymphoid cells in the bone marrow, typical immunophenotypic profile on flow cytometry and the pattern of involvement of the liver and the spleen, even in the absence of full-fledged diagnostic panels and tools. The report of this case is an endeavor to emphasize the high index of suspicion for timely detection of such a rare entity.
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B-cell prolymphocytic leukemia (B-PLL) is an extremely rare disease, accounting for approximately 1% of the lymphocytic leukemias. B-PLL generally occurs in older people. It is characterized by the presence of more than 55% prolymphocytes in the peripheral blood (PB), no or minimal lymphadenopathy, massive splenomegaly, and very high white blood cell counts. The prognosis of B-PLL patients is generally poor, with a median survival of 3 years, although a subset of patients may show a prolonged survival. Herein, we report a case of a 70-year-old male with weakness, generalized lymphadenopathy, and moderate splenomegaly at the initial presentation. Hematologic examination revealed lymphocytic leukocytosis, favoring a chronic lymphoproliferative disorder (CLPD). The key to decoding the precise CLPD was a combination of the clinical profile, morphologic findings on the peripheral blood and the bone marrow, immunophenotypic analysis, and cytogenetic study. The best diagnosis proffered was a de novo chronic lymphocytic leukemia/prolymphocytic leukemia. There was no prior history of lymphoproliferative disorder or lymphocytic leukocytosis. Discriminating this entity from other lymphoproliferative disorders is crucial as the treatment and prognosis are varied compared to the other lymphoproliferative disorders. The diagnostic conundrum encountered and the incredible utility of ancillary studies in such a scenario are highlighted in this study.
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Astroblastoma is a rare neuroepithelial tumor of the central nervous system, which accounts for only 0.45-2.8% of all neuroglial tumors. These tumors have distinct radiological, histopathological, immunohistochemical, and molecular features. We describe a case of astroblastoma of the left temporal lobe in a 38-year-old female, who presented with complaints of headache and occasional episodes of vomiting.
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BACKGROUND: Gliomas account for 45% of all intracranial tumors. Newer technologies have allowed deeper genetic and epigenetic analysis leading to the discovery of IDH (Isocitrate dehydrogenase) mutations and their association with ATRX (alpha-thalassemia/mental retardation syndrome X-linked) and p53, for better diagnosis and prognosis. In this study, we analysed their expression and correlated with various clinicopathological parameters. A follow up to prognosticate gliomas based on the molecular findings is also attempted. MATERIALS AND METHOD: During last 5 years both retrospective and prospective cases were included in the study. Immunohistochemistry for IDH1, ATRX, and p53 was done and reported based on intensity and percentage of tumor cells expressing the markers. RESULTS: A total of 53 cases of gliomas were included, excluding primary glioblastomas and ependymomas. The patient's age ranged from 10 to 53 years. The male to female ratio was 1.3:1. IDH1 positivity was seen in 88% of diffuse astrocytoma, 80% of anaplastic astrocytoma, 90% of oligodendroglioma, 60% of anaplastic oligodendroglioma, and 54% of glioblastoma. A significant association was seen between positive IDH1 expression and low-grade gliomas (p = 0.028). A combined analysis of expression of IDH1 and ATRX versus IDH1, ATRX, and p53 with WHO grade showed a statistically significant association. A follow-up of 32 patients was available. Out of 24 IDH1+ (positive) cases, 22 patients had a median survival of 21.5 months (92%). Out of 8 IDH1- (negative) cases, 5 had a median survival of 15.8 months (62%). CONCLUSION: Gliomas expressing IDH1 mutation show improved survival of patients. Combined analysis of IDH1, ATRX, and p53 has diagnostic and prognostic significance. For routine cases of gliomas, a combination of IDH1 and ATRX are sufficient; however, the use of p53 is recommended for further prognostication and for possible targeted therapy in the future.
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Background Coronavirus disease 19 (COVID-19), caused by severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), affects the coagulation cascade. In this retrospective study, we aimed to analyze the association of different coagulation parameters including that of D-dimer, fibrinogen, prothrombin time (PT), and activated partial thromboplastin time (aPTT) with severity in COVID-19 patients. Methodology A total of 90 patients positive for SARS-CoV-2 on real-time reverse transcription-polymerase chain reaction (rRT-PCR) were included in the study. The patients were categorized as severe and non-severe, and their D-dimer, fibrinogen, PT, and aPTT values on admission were evaluated. The association of the coagulation parameters with disease severity was analyzed by independent t-test and Chi-square test. The cut-off values of these parameters were calculated to predict the disease severity by receiver operator characteristic (ROC) curve. Results Out of 90 patients admitted, 42 patients were categorized as severe and the rest 48 patients were categorized as non-severe. D-dimer, fibrinogen, and PT in the severe group were significantly higher than the non-severe group with p-values of <0.001, 0.005, and <0.001, respectively. Cut-off values of 0.99 mg/L for D-dimer,349.5 mg/dL for fibrinogen, and 13.05 seconds for PT were predictive of disease severity among COVID-19 patients. Conclusion Severe COVID-19 patients showed significantly higher levels of D-dimer and fibrinogen and prolongation of PT as compared to non-severe COVID-19 patients. Higher levels of D-dimer and fibrinogen, and prolonged PT are predictive of increased disease severity among COVID-19 patients.
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Background Lymphocytic infiltrates of the major salivary glands are involved in a spectrum of diseases that range from reactive to benign and malignant neoplasms. Occasionally, these pathologic entities present difficulties in the clinical and pathological diagnosis. Aim and Objective The aim of this study was to highlight the importance of meticulous cytopathological and histopathological examination (HPE) in solving the diagnostic challenges encountered in the analysis of these salivary gland lesions. Materials and Methods A retrospective analysis of salivary gland lesions was undertaken over a period of 5 years from 2013 to 2018 in the Department of Pathology at our institute. Salivary gland pathologies diagnosed either as chronic sialadenitis or reactive/benign/malignant lymphoepithelial lesions on fine-needle aspiration cytology (FNAC) and as lymphoepithelial carcinoma (LEC) were included in this study. Results A total of 86 cases of salivary gland lesions diagnosed as mentioned above were found during this period. Out of the 86 cases, 16 were subjected to HPE. Biopsy was not warranted in most of the cases diagnosed as chronic sialadenitis. HPE was concordant with the FNAC diagnoses in 13 out of the 16 cases (81.3%), with a single case misinterpreted as LEC on FNAC. Conclusion Benign and malignant lymphoepithelial lesions of salivary glands may sometimes be difficult to differentiate not only from one another on FNAC but also from other malignant lesions. FNAC is an effective tool for the diagnosis of nonneoplastic lesions, but in cases of benign lymphoepithelial lesions in the absence of salivary acini, biopsy is advisable.
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BACKGROUND: Intraoperative crush smear is an adjuvant in diagnosing central nervous system (CNS) lesions on tissue sent for frozen section. Besides rapid decision-making, it also ensures that minimum injury is caused to the normal brain structures surrounding the intracranial neoplasm. A rapid intraoperative diagnosis helps the surgeon in planning the appropriate surgery. OBJECTIVE: Our objective is to review all the discordant cases between intraoperative and histopathological diagnosis and also to study the crush smear slides for morphological clues that could have been helpful in minimizing such errors, especially for an inexperienced neuropathologist/general pathologist. The surgeon's perspective on the impact of these errors on management is also discussed. METHOD: A prospective study of six years from 2013 to 2019 was conducted. Crush smears were made and stained with rapid hematoxylin and eosin (H&E). The rest of the tissue was processed for permanent tissue sections. Slides in which there was discordance between the intraoperative and permanent paraffin sections were reviewed to ascertain the reasons thereof. RESULTS: A total of 81 specimens of CNS tumors were sent for intraoperative consultation. Out of these, discordance was seen in 13 (16%) cases. CONCLUSION: To minimize diagnostic errors, it is important to do regular analyses of the misinterpreted cases. Knowledge of the pre-operative radiological differential diagnosis is mandatory. Discussion with the surgeon regarding the clinical impact of the errors made will give a clearer picture to the pathologists regarding clinically relevant reporting during intraoperative consultation.
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Background and objective Carcinoma of the urinary bladder is the most common urological cancer, and it accounts for 3.9% of all cancer cases in men. Patients with the subset of noninvasive low-grade papillary urothelial carcinoma (LG-UrCa) are at higher risk for tumour recurrence. In this study, we aimed to analyse the histopathological features of LG-UrCa and to correlate those with recurrence potential as well as disease stage and grade progression. Materials and methods We conducted a retrospective study from January 2016 to December 2018. All cases with presenting biopsy initially reported as LG-UrCa were included in the study. All cases with initial biopsy reported as high-grade papillary urothelial carcinoma (HG-UrCa) were excluded from the study. We used the 2016 World Health Organization/International Society of Urological Pathology (WHO/ISUP) guidelines for the classification of papillary urothelial neoplasm. Results A total of 48 initially diagnosed cases of LG-UrCa were identified. Two out of 48 cases were reclassified as high-grade urothelial carcinoma and were excluded from the study. The mean age of patients at presentation was 56.7 years. The mean duration of follow-up was 19.8 months. The mean size of initial tumours was 3.4 cm. Tumour recurrence was encountered in 14 (30.4%) of 46 patients. Out of the four patients who had high-grade progression (8.7%), two also developed TNM stage progression. These two patients eventually underwent radical cystectomy. Patients with larger initial tumour sizes were found to have an increased tumour recurrence rate (p=0.009). Patients with multiple lesions at initial diagnosis had a significantly higher tumour recurrence rate than those with a single tumour (p=0.02). There was no significant difference with regard to intravesical Bacillus Calmette-Guérin (BCG) and tumour recurrence (p=0.065). None of the clinicopathological parameters were significantly associated with the grade and/or stage progression. Conclusion Based on our findings, patients with larger initial tumour size and tumour multiplicity at presentation had an increased tumour recurrence rate.
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Hyperlipidemia is a risk factor of osteoarthritis. In the present case report, a case of hypercholesterolemic arthritis secondary to diabetes mellitus is described in a 40-year-old male along with the cytological features of synovial fluid.
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Systemic lupus erythematosus-myositis overlap syndrome is rare with prognostic implications. Reports suggest that systemic lupus erythematosus-myositis overlap syndrome with lupus nephritis has a variable clinical outcome. We report a case of systemic lupus erythematosus-myositis overlap syndrome with lupus nephritis in a 28-year-old female, who presented with facial puffiness, proximal muscle weakness, and proteinuria.
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INTRODUCTION: Mediastinal masses are uncommon in clinical practice. Fine-needle aspiration cytology (FNAC) is an important and useful investigation and is considered next to imaging in the diagnosis of mediastinal lesions. AIM: To analyze the mediastinal masses diagnosed on FNAC. MATERIALS AND METHODS: We retrospectively retrieved twenty-five cases, which underwent FNAC under ultrasound or computed tomography (CT) guidance for mediastinal masses, over a period of 4 years. Histopathological correlations were done in cases wherever available. RESULTS: Among twenty-five cases, which were diagnosed through FNAC, eighteen were males and seven were females with age ranging from 6 to 85 years. Ultrasonography (USG)-guided FNAC was performed in three patients, while CT-guided FNAC was performed in twenty-two patients. Out of twenty-five cases, seventeen cases were malignant, six were benign, and two cases were inadequate. FNAC was useful in the diagnosis of 83.3% of cases. Biopsy and/or cell block correlations were available in fourteen cases. In the malignant category, mediastinal invasion by either squamous cell carcinoma or adenocarcinoma constituted the highest number with eight (47%) out of seventeen cases. Among the nonneoplastic conditions, nonspecific inflammation was the most common cause with two cases (8%) out of total cases followed by one case each of tuberculosis, schwannoma, thymoma, and cystic lesion. CONCLUSION: USG or CT-guided FNAC is a safe, minimally invasive, and cost-effective procedure, which can provide a precise diagnosis in the mediastinal masses, and may obviate the need for an invasive surgical approach.
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Children with Down syndrome (DS) are found to have an increased risk of developing various hematological disorders. Particularly, they have an increased predisposition to acute leukemia, predominantly the myeloid type known as myeloid leukemia of Down syndrome (ML-DS). The major morphological subtype is acute megakaryoblastic leukemia. Approximately 10% of the neonates with DS show a unique disorder known as transient leukemia or transient abnormal myelopoiesis (TAM). Their clinical and morphological features are indistinguishable from acute myeloid leukemia (AML); however, they regress spontaneously within the first few months of life. Here we present a series of four cases with different hematological conditions in children with DS. Of the four cases, two presented with AML-M7, one with TAM, and one case was diagnosed as AML-M2 subtype. This case series highlights the spectrum of hematological disorders in children with DS. Although the majority of the case studies show that TAM and AML-M7 are strongly associated with DS, this case series brings to focus that other AML subtypes may occur as well.