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We aimed to evaluate the utility of simple, cost-effective, and non-invasive strategies alternative to BIPSS and peripheral CRH stimulation in differential diagnosis of ACTH-dependent CS. First, we performed ROC analysis to evaluate the performance of various tests for differential diagnosis of ACTH-dependent CS in our cohort (CD, n=76 and EAS, n=23) and derived their optimal cut-offs. Subsequently, combining various demographic (gender), clinical (hypokalemia), biochemical (plasma ACTH, HDDST, peripheral CRH stimulation) and imaging (MRI pituitary) parameters, we derived non-invasive models with 100% PPV for CD. Patients with pituitary macroadenoma (n=14) were excluded from the analysis involving non-invasive models. Relative percent ACTH (AUC: 0.933) and cortisol (AUC: 0.975) increase on peripheral CRH stimulation demonstrated excellent accuracy in discriminating CD from EAS. Best cut-offs for CD were plasma ACTH<97.3 pg/ml, HDDST≥57% cortisol suppression, CRH stimulation≥77% ACTH increase and≥11% cortisol increase. We derived six models that provided 100% PPV for CD and precluded the need for BIPPS in 35/85 (41.2%) patients with ACTH-dependent CS and no macroadenoma (in whom BIPSS would have otherwise been recommended). The first three models included basic parameters and avoided both peripheral CRH stimulation and BIPSS in 19 (22.4%) patients, while the next three models included peripheral CRH stimulation and avoided BIPSS in another 16 (18.8%) patients. Using simple and non-invasive alternative strategies, BIPSS can be avoided in 41% and peripheral CRH stimulation in 22% of patients with ACTH-dependent CS and no macroadenoma; such patients can be directly referred for a pituitary surgery.
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Palisaded encapsulated neuroma (PEN) is a benign circumscribed nerve sheath tumor usually seen as a solitary painless papule on the face in middle-aged adults. We report a 22-year-old male with multiple adolescent-onset PENs distributed extensively, including the oral cavity and palms, contrary to the typical presentations. The lesions formed cobblestoned plaques and were confirmed through a skin biopsy, showing characteristic nodules of wavy spindle cells forming interlacing fascicles with interspersed clefts, and positive staining for specific markers, including markers for axons and perineurium. Notably, this case deviates from the usual presentation, shedding light on atypical manifestations of PEN in a young individual without any features suggestive of a neurocutaneous syndrome or multiple endocrine neoplasia syndrome.
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Neoplasias de Bainha Neural , Neuroma , Neoplasias Cutâneas , Adulto , Pessoa de Meia-Idade , Masculino , Adolescente , Humanos , Adulto Jovem , Neuroma/patologia , Boca/patologia , Biópsia , Neoplasias Cutâneas/patologiaRESUMO
OBJECTIVE: Accurate demarcation between multiple endocrine neoplasia, type 1 (MEN1)- related primary hyperparathyroidism (MPHPT) and sporadic PHPT (SPHPT) is important to plan the management of primary parathyroid disease and surveillance for other endocrine and nonendocrine tumours. The objective of this study is to compare the clinical, biochemical and radiological features and surgical outcomes in patients with MPHPT versus SPHPT and to identify the predictors of MEN1 syndrome in PHPT. DESIGN, PATIENTS AND MEASUREMENTS: This was an ambispective observationalstudy involving 251 patients with SPHPT and 23 patients with MPHPT evaluated at the endocrine clinic of All India Institute of Medical Sciences, New Delhi, India between January 2015 and December 2021. RESULTS: The prevalence of MEN1 syndrome among patients with PHPT was 8.2% and a genetic mutation was identified by Sanger sequencing in 26.1% of patients with MPHPT. Patients with MPHPT were younger (p < .001), had lower mean serum calcium (p = .01) and alkaline phosphatase (ALP; p = .03) levels and lower bone mineral density (BMD) Z score at lumbar spine (p < .001) and femoral neck (p = .007). The prevalence of renal stones (p = .03) and their complications (p = .006) was significantly higher in MPHPT group. On multivariable analysis, factors predictive of MPHPT were hyperplasia on histopathology [OR 40.1, p < .001], ALP levels within reference range [OR 5.6, p = .02] and lumbar spine BMD [OR 0.39 per unit increase in Z score, p < .001]. CONCLUSIONS: Patients with MPHPT have more severe, frequent and early onset of bone and renal involvement despite milder biochemical features. A normal serum ALP, low BMD for age and gender at lumbar spine and histopathology evidence of hyperplasia are predictive factors for MEN1 syndrome in PHPT.
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Hiperparatireoidismo Primário , Neoplasia Endócrina Múltipla Tipo 1 , Neoplasia Endócrina Múltipla , Humanos , Hiperparatireoidismo Primário/complicações , Hiperparatireoidismo Primário/cirurgia , Hiperplasia/complicações , Neoplasia Endócrina Múltipla Tipo 1/complicações , Neoplasia Endócrina Múltipla Tipo 1/patologia , Neoplasia Endócrina Múltipla/complicações , Resultado do Tratamento , Densidade ÓsseaRESUMO
PURPOSE: In the context of radioiodine-resistant follicular-cell derived thyroid cancers (RAI-R-FCTC), [18F]F-FDG PET/CT serves as a widely used and valuable diagnostic imaging method. However, there is growing interest in utilizing molecular imaging probes that target cancer-associated fibroblasts (CAFs) as an alternative approach. This study sought to compare the diagnostic capabilities of [68Ga]Ga-DOTA.SA.FAPi and [18F]F-FDG PET/CT in patients with RAI-R-FCTC. METHODS: In this retrospective study, a total of 117 patients with RAI-R-FCTC were included. The study population consisted of 68 females and 49 males, with a mean age of 53.2 ± 11.7 years. The aim of the study was to perform a comprehensive qualitative and quantitative assessment of [68Ga]Ga-DOTA.SA.FAPi and [18F]F-FDG PET/CT scans in RAI-R-FCTC patients. The qualitative assessment involved comparing patient-based and lesion-based visual interpretations of both scans, while the quantitative assessment included analyzing standardized uptake values corrected for lean body mass (SULpeak and SULavg). The findings obtained from the scans were validated by correlating them with morphological findings from diagnostic computed tomography and/or histopathological examination. RESULTS: Among the 117 RAI-R-FCTC patients, 60 had unilateral local disease, and 9 had bilateral lesions with complete concordance in the detection rate on both PET scans. [68Ga]Ga-DOTA.SA.FAPi had a higher detection rate for lymph nodes (95.4% vs 86.6%, p<0.0001), liver metastases (100% vs. 81.3%, p<0.0001), and brain metastases (100% vs. 39%, p<0.0001) compared to [18F]F-FDG. The detection rates for pleural and bone metastases were similar between the two radiotracers. For lung metastases, [68Ga]Ga-DOTA.SA.FAPi showed a detection rate of 81.7%, whereas [18F]F-FDG had a detection rate of 64.6%. Remarkably, [68Ga]Ga-DOTA.SA.FAPi was able to detect a bowel metastasis that was missed on [18F]F-FDG scan. The median standardized uptake values (SUL) were generally comparable between the two radiotracers, except for brain metastases (SULpeak [68Ga]Ga-DOTA.SA.FAPi vs. [18F]F-FDG: 13.9 vs. 6.7, p-0.0001) and muscle metastases (SULpeak [68Ga]Ga-DOTA.SA.FAPi vs. [18F]F-FDG: 9.56 vs. 5.62, p-0.0085), where [68Ga]Ga-DOTA.SA.FAPi exhibited higher uptake. CONCLUSION: The study results demonstrate the superior performance of [68Ga]Ga-DOTA.SA.FAPi compared to [18F]F-FDG PET/CT in detecting lymph nodal, liver, bowel, and brain metastases in patients with RAI-R-FCTC. These findings highlight the potential of [68Ga]Ga-DOTA.SA.FAPi as a theranostic tool that can complement the benefits of [18F]F-FDG PET/CT in the imaging of RAI-R-FCTC.
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Neoplasias Encefálicas , Quinolinas , Neoplasias da Glândula Tireoide , Feminino , Masculino , Humanos , Adulto , Pessoa de Meia-Idade , Fluordesoxiglucose F18 , Radioisótopos de Gálio , Radioisótopos do Iodo , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Estudos Retrospectivos , Tomografia por Emissão de Pósitrons , Neoplasias da Glândula Tireoide/diagnóstico por imagemRESUMO
Primary hyperparathyroidism is a common endocrine disorder. Interestingly, the majority (75%) of parathyroid tumors are localized to the inferior parathyroid glands. To date, the reason for this natural bias has not been investigated. We assessed the global gene expression profile of superior and inferior glands obtained from forensic autopsies. The genes with significant differential expression between superior and inferior parathyroids were further assessed by RT-PCR in 19 pairs. As an iterative approach, additional genes with an established role in parathyroid disorders, i.e., CASR, MAFB, PAX9, TBCE, TBX1, VDR, MEN1, CCND1, and CDC73 were also evaluated by RT-PCR in all 19 pairs of superior and inferior parathyroid glands. Seven homeobox genes, namely HOXA4, HOXA5, HOXBAS3, HOXB4, HOXB6, HOXB9, IRX1, and one encoding for ALDH1A2 showed a lower expression in the inferior parathyroid glands than in the superior. Conversely, SLC6A1 showed a higher expression in the inferior glands. Of the nine genes with significant differential mRNA expression among superior and inferior glands HOXB9, HOXB4 and IRX1 could be detected by western blotting/mass spectrometry. The study is the first to show the differential expression of nine genes HOXA4, HOXA5, HOXBAS3, HOXB4, HOXB6, HOXB9, IRX1, ALDH1A2, and SLC6A1 in inferior versus the superior parathyroid glands. This could have potential implications for the preferential localization of parathyroid tumors to the inferior parathyroid glands as observed in patients with primary hyperparathyroidism.
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Hiperparatireoidismo Primário , Neoplasias das Paratireoides , Humanos , Glândulas Paratireoides/química , Glândulas Paratireoides/metabolismo , Glândulas Paratireoides/patologia , Neoplasias das Paratireoides/genética , Neoplasias das Paratireoides/metabolismo , Neoplasias das Paratireoides/patologia , Hiperparatireoidismo Primário/metabolismo , Hiperparatireoidismo Primário/patologia , Western Blotting , Proteínas de Homeodomínio/genética , Proteínas de Homeodomínio/metabolismoRESUMO
INTRODUCTION: Accurate localization of the pathological parathyroid gland is a prerequisite for minimally invasive surgical management of hyperparathyroidism (HPT). Poor imaging or discordance in odd situations like ectopic adenomas, parathyroid hyperplasia, syndromic HPT results in localization dilemma thus causing failed parathyroidectomy. We studied the impact of Fluoro-Choline (FCH) PET/CT imaging in reduction in localization failure of parathyroid adenoma. MATERIALS AND METHODS: We did a retrospective observational study (2018-2021) of HPT among which 97 patients underwent focused parathyroidectomy (FP). All patients had undergone ultrasound imaging and 99mTc-sestaMIBI scan with early SPECT/CT (MIBI). When this preliminary imaging was doubtful or negative or multiple lesions were expected, FCH PET/CT was performed. We compared the localization accuracy of MIBI scan and FCH PET/CT with surgical outcomes as reference standard. RESULTS: MIBI scan showed overall lesion detection rate (LDR) of 88.65% in localization of pathological parathyroid gland in 97 patients. The addition of FCH PET/CT improved the overall lesion detection to 97.9%. The overall possible localization failure was reduced from 11.34 to 2.06% with the addition of FCH PET/CT (p < 0.05). Out of 97 patients of FP, 87 patients showed features of parathyroid adenoma. Single hyperplastic gland was seen in 7 patients, lipoadenoma was seen in 1 patient and 1 patient had features suggestive of parathyroiditis on histopathology. FCH PET/CT was a useful adjunct and showed significant reduction in localization failure of parathyroid adenoma.
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Adenoma , Hiperparatireoidismo Primário , Neoplasias das Paratireoides , Humanos , Glândulas Paratireoides/diagnóstico por imagem , Glândulas Paratireoides/cirurgia , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Hiperparatireoidismo Primário/diagnóstico por imagem , Hiperparatireoidismo Primário/etiologia , Hiperparatireoidismo Primário/cirurgia , Neoplasias das Paratireoides/complicações , Neoplasias das Paratireoides/diagnóstico por imagem , Neoplasias das Paratireoides/cirurgia , Colina , Tecnécio Tc 99m Sestamibi , Adenoma/complicações , Adenoma/diagnóstico por imagem , Adenoma/cirurgia , Compostos RadiofarmacêuticosRESUMO
BACKGROUND: Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome associated with phosphaturic mesenchymal tumors (PMTs). Localization of the causative tumor in these cases is an arduous task since the culprit lesions are usually small, slow-growing, and can be located almost anywhere from head to toe. PURPOSE: To describe the morphological characteristics of histologically proven PMTs on various radiological modalities. MATERIAL AND METHODS: After institutional ethical approval, this retrospective study analyzed 20 cases with a histopathological evidence of PMT. Various imaging characteristics of the tumors on available computed tomography (CT) and magnetic resonance imaging (MRI) scans were evaluated. Descriptive statistical analyses were conducted. RESULTS: The tumors were located in diverse locations: lower extremities (n = 10); head and neck (n = 5); vertebral column (n = 3); pelvis (n = 1); and upper extremities (n = 1). Bone lesions seen on CT had variable morphology: sclerotic (n = 3/8, 37.5%); lytic (n = 3/8, 37.5%), and both lytic and sclerotic (n = 2/8, 25%) with presence of narrow zone of transition in all cases (n = 8/8) and amorphous internal matrix calcifications in 25% of cases (n = 2/8). Of the tumors, 68.4% (n = 13/19) were hypointense on T1 and all of them showed hyperintense signal on T2-weighted and STIR images (n = 19/19) and contrast enhancement (n = 16/16). Of the tumors, 66.7% (n = 6/9) showed restricted diffusion. DOTANOC PET/CT showed tumor uptake in all cases (n = 8/8). CONCLUSION: PMTs may have variable and non-specific tumor appearances on various imaging modalities. However, in an appropriate clinical scenario and a background of suggestive biochemical work-up, the radiologist should keep a high index of suspicion.
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Síndromes Paraneoplásicas , Neoplasias de Tecidos Moles , Humanos , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Estudos Retrospectivos , Neoplasias de Tecidos Moles/patologia , Síndromes Paraneoplásicas/diagnóstico por imagem , Síndromes Paraneoplásicas/complicações , Síndromes Paraneoplásicas/patologia , Tomografia Computadorizada por Raios X/métodosRESUMO
Acquired cutis laxa type II (Marshall syndrome) is a post-inflammatory elastolysis occurring in infancy and childhood. It is challenging to treat with very few effective treatment options available. Herein, we describe the case of a 3-month-old boy with acquired cutis laxa type II secondary to a neutrophilic dermatosis. Early treatment of the initial inflammatory phase is essential to reduce the permanent sequelae.
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Anormalidades Craniofaciais , Cútis Laxa , Perda Auditiva Neurossensorial , Linfadenopatia , Osteocondrodisplasias , Faringite , Estomatite Aftosa , Catarata , Criança , Colágeno Tipo XI/deficiência , Cútis Laxa/complicações , Cútis Laxa/diagnóstico , Humanos , Lactente , Masculino , Osteocondrodisplasias/complicações , SíndromeRESUMO
Lipschutz ulcers, or non-sexually acquired genital ulcers, typically occur in older children and young adults. A diagnosis of Lipschutz ulcers can only be made after excluding common infectious and non-infectious causes of mucosal ulcers. Herein, we present the case of a 4-month-old girl with painful ulceration of the labia consistent with Lipschutz ulcers.
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Úlcera , Doenças da Vulva , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Dor/etiologia , Úlcera/complicações , Úlcera/diagnóstico , Doenças da Vulva/complicações , Doenças da Vulva/diagnósticoRESUMO
BACKGROUND: "Line sign," "cookie cutter sign," "square biopsy sign," "high eccrine glands sign" have been previously described in morphoea and lichen sclerosus. We found focal areas of thickened collagen bundles with lymphocytes interspersed between them in several biopsies of these conditions. MATERIALS AND METHODS: We reviewed slides of sclerosing disorders obtained from the archives of the pathology department in our hospital for the period 2013-2019. RESULTS: A total of 73 slides including 40 of lichen sclerosus, 24 of morphea, 2 of lichen sclerosus-morphea overlap, and 7 of systemic sclerosis were evaluated. Lymphocytes were noted between sclerotic collagen bundles in 46 (63%) slides, being most common in lichen sclerosus (80%, 32/40) followed by morphea (50%, 12/24), whereas it was seen in one case each of lichen sclerosus with morphea overlap (50%, 1/2) and systemic sclerosis (14.3%, 1/7). The finding was noted in the upper dermis in 20 of 32 (62.5%) slides of lichen sclerosus and in both the superficial and deep dermis in 11 (91.7%) of 12 slides of morphea. CONCLUSION: Lymphocyte-peppered sclerotic collagen may be a useful histological clue to the diagnosis of lichen sclerosus, morphea, and systemic sclerosis.
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Colágeno , Líquen Escleroso e Atrófico/patologia , Linfócitos , Esclerodermia Localizada/patologia , Escleroderma Sistêmico/patologia , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Humanos , Líquen Escleroso e Atrófico/imunologia , Masculino , Pessoa de Meia-Idade , Esclerodermia Localizada/imunologia , Escleroderma Sistêmico/imunologia , Esclerose/imunologia , Esclerose/patologia , Adulto JovemRESUMO
Research on the primary thyroid lymphoma (PTL) diagnosis is limited, with only a few large sample size studies, reported from Asian countries. The aim of the present study was to clarify the current prevalence and challenges in PTL diagnosis, and recommended ancillary studies for PTL in non-Western countries. PTL (n = 153) cases were retrieved from 10 institutions in non-Western countries and analyzed. Ultrasound examination (UE) and fine needle aspiration cytology (FNAC) were used as main preoperative diagnostic tools in all participating institutions. Flow cytometry (FCM) was performed in the 5 institutions (50%). Lobectomy was the most common histological procedure to confirm the PTL diagnosis. All institutions routinely performed immuno-histochemical analysis. PTL was 0.54% of malignant thyroid tumor cases, with mucosa-associated lymphoid tissue lymphoma (MALTL) and diffuse large B-cell lymphoma (DLBCL) being 54.9% and 38.6%, respectively. Kuma Hospital, where the frequency of MALTL was highest (83.7%), routinely performed FCM using the materials obtained by FNAC. UE and FNAC sensitivities were 62.5% and 57.8%, respectively. In both UE and FNAC, sensitivity of MALTL was lower than of DLBCL. The study elucidated that the prevalence of PTL in non-Western countries was lower than previously reported. We propose that FCM should be more actively used to improve the preoperative diagnosis of MALTL. Our data predicted that the MALTL proportion will increase with improved diagnostic tools, while observation of PTL-suspected nodules without histological examination remains a viable option.
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Linfoma/epidemiologia , Neoplasias da Glândula Tireoide/epidemiologia , Biópsia por Agulha Fina , China/epidemiologia , Humanos , Imuno-Histoquímica , Índia/epidemiologia , Japão/epidemiologia , Linfoma/diagnóstico , Linfoma/patologia , Linfoma de Zona Marginal Tipo Células B/diagnóstico , Linfoma de Zona Marginal Tipo Células B/epidemiologia , Linfoma de Zona Marginal Tipo Células B/patologia , Linfoma Folicular/diagnóstico , Linfoma Folicular/epidemiologia , Linfoma Folicular/patologia , Linfoma Difuso de Grandes Células B/diagnóstico , Linfoma Difuso de Grandes Células B/epidemiologia , Linfoma Difuso de Grandes Células B/patologia , Prevalência , República da Coreia/epidemiologia , Sérvia/epidemiologia , Taiwan/epidemiologia , Tailândia/epidemiologia , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/patologia , Tireoidectomia , Turquia/epidemiologia , UltrassonografiaRESUMO
Pseudolipomatosis cutis is a distinctive artifact characterized by the presence of adipocyte-like vacuoles in the biopsy specimens. We describe this change in a series of skin biopsies clustered over 2 periods, November 2017-December 2017 and February 2019. Hematoxylin and eosin-stained sections from 21 skin biopsies were examined by 2 dermatopathologists. Variable-sized vacuoles were noted in the epidermis, dermis, and/or subcutaneous fat in all biopsies. Vacuoles were seen in the stratum corneum in 2 biopsies, epidermis in 15 biopsies, papillary dermis in 19 biopsies, reticular dermis in 20 biopsies, and subcutis in 9 biopsies. The vacuoles resembled a true histological change in many biopsies: vacuolated keratinocytes (n = 6), basal cell vacuolization (n = 6), foamy histiocytes (n = 12), and adipocytes (n = 20). Other changes included dermal collagen sclerosis and empty ectatic vascular channels. The clustering of this peculiar change in biopsies from patients with unrelated skin diseases that stopped on changing the formalin solution in both instances suggests that it is an artifactual change due to improper tissue fixation.
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Adipócitos/patologia , Artefatos , Dermatopatias/patologia , Pele/patologia , Vacúolos/patologia , Biópsia , Fixadores , Formaldeído , Humanos , Valor Preditivo dos Testes , Estudos Retrospectivos , Fixação de TecidosRESUMO
OBJECTIVE: Langerhans cell histiocytosis (LCH) is a rare disease affecting predominantly children and young adults but can be found in any age group. Diagnosis of LCH is often difficult and can be delayed because of its rarity. The present study highlights the cytomorphological features in a large cohort of cases. An accurate cytological diagnosis may avoid unnecessary biopsy and guide appropriate management. METHOD: Fourty seven (47) cases of LCH diagnosed on cytological material & fine-needle aspiration (FNA) over a period of 14 years (2003-2016) were retrieved from the archives. The cytological smears were evaluated and microscopic findings collected by semi-quantitative assessment done by two different pathologists RESULT: The age at the diagnosis of the patients ranged from 9 months to 28 years. The majority of cases were in the age group of 0-5 years. The most common site was head and neck region, which included cervical lymphadenopathy and scalp swelling. Two cases were diagnosed each from inguinal lymph node and bronchio-alveolar lavage (BAL). Cytological smears in the majority of the cases were moderate to highly cellular (58%) and showing abundant Langerhans cell in (72%) of cases. Areas of necrosis were seen in 38%, while 78% of cases showed giant cells. The majority of cases showed mild eosinophilia (61%), sparse lymphocytosis (83%) and mild neutrophilic infiltration (64%). There were 1-2 mitoses per 10 high power field in 12 cases (25.5%). No abnormal mitoses were identified. CONCLUSION: The presence of cells with features of Langerhans cells associated with the expression of selected immunohistochemical markers allow the diagnosis of LCH on cytological samples, sparing more invasive procedure as a biopsy.
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Citodiagnóstico , Histiocitose de Células de Langerhans/diagnóstico , Células de Langerhans/patologia , Linfadenopatia/diagnóstico , Adolescente , Biomarcadores/análise , Biópsia por Agulha Fina , Lavagem Broncoalveolar/métodos , Criança , Pré-Escolar , Feminino , Histiocitose de Células de Langerhans/patologia , Humanos , Lactente , Recém-Nascido , Linfonodos , Linfadenopatia/patologia , Masculino , Adulto JovemRESUMO
Necrobiotic xanthogranuloma is a rare dermatological manifestation of underlying hematological malignancies, in particular, when associated with paraproteinemia. These patients who are clinically symptomatic with chronic papules, nodules or plaques which demonstrate a histopathological pattern suggestive of extensive and frequently confluent areas of necrobiosis with granulomatous infiltration, warrant evaluation for an underlying monoclonal gammopathy.
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Xantogranuloma Necrobiótico/diagnóstico , Humanos , Gamopatia Monoclonal de Significância Indeterminada , Xantogranuloma Necrobiótico/terapia , ParaproteinemiasRESUMO
Disseminated cryptococcosis is infrequent in immunocompetent children. Pulmonary and central nervous system are the commonly involved sites of infection in an immunocompromised host. We report a fatal case of disseminated cryptococcosis in an immunocompetent host presenting as fever of unknown origin with miliary shadows on chest radiograph, mimicking tuberculosis. In countries with the heavy burden of tuberculosis, a high index of suspicion is needed for early diagnosis of its close mimics like disseminated cryptococcosis.
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Criptococose/diagnóstico , Criptococose/microbiologia , Febre de Causa Desconhecida , Tuberculose Miliar/diagnóstico por imagem , Antifúngicos/administração & dosagem , Antifúngicos/uso terapêutico , Pré-Escolar , Criptococose/tratamento farmacológico , Cryptococcus neoformans/isolamento & purificação , Diagnóstico Diferencial , Evolução Fatal , Feminino , Humanos , Imunocompetência , Radiografia , Tuberculose Miliar/diagnósticoRESUMO
Anaplastic thyroid carcinoma (ATC), one of the most aggressive malignancies, is extremely rare in childhood. We present a case of 5-yearold child who presented with rapidly progressing thyroid swelling and stridor, for which she underwent emergency tracheostomy and biopsy. Histopathological features were suggestive of ATC and the patient died within two months after diagnosis. ATC, though very rare in childhood, should be kept in the differential diagnoses of rapidly enlarging neck masses in children. To the best of our knowledge, this is the youngest case of ATC reported in literature.
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Carcinoma Anaplásico da Tireoide/diagnóstico , Biópsia , Pré-Escolar , Diagnóstico Diferencial , Evolução Fatal , Feminino , Humanos , Carcinoma Anaplásico da Tireoide/patologia , Carcinoma Anaplásico da Tireoide/cirurgia , TraqueostomiaRESUMO
Insulinomas are rare pancreatic neuroendocrine tumors. The genetic causes underlying insulinoma are still being investigated. Recently, 3 independent studies reported a recurrent somatic mutation in YY1 gene (C>G; Thr372Arg) among insulinoma patients belonging to Chinese and Western Caucasian populations, which was found to increase insulin secretion by ß-cells. However, the status of this key gene variation remains unknown in patients of other ethnicities. We, therefore, screened Indian sporadic insulinoma patients for YY1 T372R mutation in the present study. Seventeen patients diagnosed with insulinoma were recruited retrospectively and their records of family history and clinical parameters were collected. Formalin-fixed paraffin-embedded tumor tissues were used to extract genomic DNA, which was subjected to PCR amplification of YY1 exon 5, followed by Sanger sequencing. Nucleotide sequences thus obtained were aligned against the documented sequence of YY1 exon 5. We found absence of C to G mutation at YY1 codon 372 in all 17 (100%) insulinoma tissues analyzed. On comparison with the mutation frequency observed in the Chinese patients, our results point to genetic heterogeneity in the pathogenesis of insulinoma. This is the first report on the status of YY1 T372R in insulinoma cases of Indian origin. This also warrants analysis of other documented as well as novel mutations in genes in insulinoma tumorigenesis.
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Substituição de Aminoácidos/genética , Insulinoma/genética , Mutação/genética , Fator de Transcrição YY1/genética , Adolescente , Adulto , Idoso , Sequência de Bases , Feminino , Humanos , Índia , Masculino , Pessoa de Meia-Idade , Adulto JovemAssuntos
Urticária , Vasculite Leucocitoclástica Cutânea , Vasculite , Humanos , Urticária/induzido quimicamente , Urticária/diagnóstico , Urticária/tratamento farmacológico , Vasculite/induzido quimicamente , Vasculite/diagnóstico , Vasculite/tratamento farmacológico , Vasculite Leucocitoclástica Cutânea/induzido quimicamente , Vasculite Leucocitoclástica Cutânea/diagnóstico , Ácido Zoledrônico/efeitos adversosRESUMO
A 6-year-old boy presented with a large subhepatic mass associated with pain abdomen. Exploration revealed a tumor in lesser omentum, completely separate from the normal pancreas that was excised completely. Histopathology suggested acinar cell carcinoma of pancreatic origin in an ectopic location. The child is well at 5 months follow-up.