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Primary malignant melanoma of the gallbladder is an extremely rare tumor with approximately 39 cases described in the literature so far. However, since the first case was reported in 1907, it remains controversial whether gallbladder involvement in malignant melanoma is primary or metastatic. Here, we report a case of primary malignant melanoma of the gallbladder. A 52-year-old male presented to the emergency department with right upper quadrant abdominal pain and was found to have tumefactive sludge filling the majority of the gallbladder with possible gallbladder wall thickening on ultrasonography. A laparoscopic cholecystectomy was performed for presumed acute cholecystitis. Histopathologic examination of the gallbladder revealed malignant melanoma arising from the mucosa of the gallbladder. Further clinical investigation excluded other primary sites, supporting a diagnosis of primary malignant melanoma of the gallbladder.
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Soil-transmitted helminth infections are assumed to be uncommon in the US, despite numerous studies in the past few decades showing high burdens in Appalachia and the southern states. We assessed trends of interest in the Google search engine to gauge spatiotemporal patterns of potential soil-transmitted helminth transmission. We conducted a further ecological study comparing Google search trends to risk factors for soil-transmitted helminth transmission. Google search trends for terms related to soil-transmitted helminths were clustered in Appalachia and the south, with seasonal surges suggestive of endemic transmission for hookworm, roundworm (Ascaris), and threadworm. Furthermore, lower access to plumbing, increased septic tank use, and more rural environments were associated with increased soil-transmitted helminth-related Google search terms. Together, these results suggest that soil-transmitted helminthiasis remains endemic in parts of Appalachia and the south.
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Diffusely infiltrating gliomas are among the most common central nervous system tumors in adults. Over the past decade, the subcategorization of these tumors has changed to include both traditional histologic features and more recently identified molecular factors. However, one molecular feature that has yet to be integrated is the presence/absence of chromosomal instability (CIN). Herein, we use global methylation profiling to evaluate a reference cohort of IDH-mutant astrocytomas with and without prior evidence of CIN (n = 42), and apply the resulting methylation-based characteristics to a larger test cohort of publicly-available IDH-mutant astrocytomas (n = 245). We demonstrate that IDH-mutant astrocytomas with evidence of CIN cluster separately from their chromosomally-stable counterparts. CIN cases were associated with higher initial histologic grade, altered expression patterns of genes related to CIN in other cancers, elevated initial total copy number burden, and significantly worse progression-free and overall survival. In addition, in a grade-for-grade analysis, patients with CIN-positive WHO grade 2 and 3 tumors had significantly worse survival. These results suggest that global methylation profiling can be used to discriminate between chromosomally stable and unstable IDH-mutant astrocytomas, and may therefore provide a reliable and cost-effective method for identifying gliomas with chromosomal instability and resultant poor clinical outcome.
Assuntos
Astrocitoma , Neoplasias Encefálicas , Glioma , Adulto , Astrocitoma/patologia , Neoplasias Encefálicas/patologia , Instabilidade Cromossômica/genética , Metilação de DNA , Glioma/genética , Humanos , Isocitrato Desidrogenase/genética , Mutação/genéticaRESUMO
PURPOSE: To report a case of neurofibroma involving the lymph nodes and to perform a literature review on this topic. OBSERVATIONS: A 72-year-old woman with a history of neurofibromatosis and biopsy-proven malignant melanoma of the left forearm underwent wide local excision of the malignant lesion along with sentinel axillary lymph node biopsy. Histological examination of axillary nodes revealed diffuse neurofibromatosis within 2 lymph node capsules. A thorough review of the English literature pertaining to intranodal neurofibroma was performed by querying Google Scholar and PubMed. Only 5 cases of intranodal neurofibroma have been described until now. CONCLUSIONS AND IMPORTANCE: Neurofibroma involving the lymph nodes is rare and this is the first reported case that is shown to diffusely involve the intracapsular space. Furthermore, intranodal neurofibroma can represent a diagnostic pitfall in the evaluation of sentinel lymph nodes for metastatic melanoma.
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Melanoma/diagnóstico , Neoplasias Primárias Múltiplas/diagnóstico , Neurofibroma/diagnóstico , Neurofibromatoses , Linfonodo Sentinela/patologia , Neoplasias Cutâneas/diagnóstico , Idoso , Axila , Diagnóstico Diferencial , Evolução Fatal , Feminino , Antebraço , Humanos , Melanoma/complicações , Melanoma/secundário , Neoplasias Primárias Múltiplas/complicações , Neoplasias Primárias Múltiplas/patologia , Neurofibroma/complicações , Neurofibroma/patologia , Biópsia de Linfonodo Sentinela , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/patologiaRESUMO
Found in virtually any organ system, immunoglobulin (Ig) G4-related disease (RD) is a recently recognized immune-mediated, systemic, a fibroinflammatory disease characterized histologically by storiform fibrosis, obliterative phlebitis, and lymphoplasmacytic infiltrate with IgG4-positive plasma cells (PCs). IgG4-related Hashimoto thyroiditis (IgG4-RHT), also called IgG4-related thyroiditis, shares many features with IgG4-RD but is distinct in several ways. A case of IgG4-RHT in a 51-year-old African American female is assembled together with a literature review which uncovered 82 cases of IgG4-RHT. The findings and criteria which the respective authors used to reach their diagnoses are analyzed. Findings common to all studies are lymphoplasmacytic infiltration and IgG4-positive staining, while most describe follicular atrophy (95.2%, 79/83). Stromal fibrosis involving >33% of thyroid architecture was reported in 74% (58/78) of cases. While few reports observed storiform fibrosis, all describe lack of obliterative phlebitis or systemic involvement. Discrepancies between reports exist in immunostaining thresholds, as well as grading systems for stromal fibrosis. Based on our review of the literature and experience, we propose a set of best practice recommendations for the diagnosis of IgG4-RHT. Our diagnostic criteria are (1) lack of extrathyroidal IgG4-RD, (2) the fibroinflammatory process should not extend beyond the thyroid capsule, (3) stromal fibrosis comprises at least 30% of the involved tissue, (4) >30% IgG4/IgG ratio, with absolute immunostaining cutoffs varying by the degree of stromal fibrosis: for >50% stromal fibrosis use >20 IgG4+PCs/HPF, for 30% to 50% fibrosis use >30 IgG4+PCs/HPF, (5) fibrosis infiltrates the interlobular/interfollicular space, (6) features of follicle injury, and (7) obliterative phlebitis is not required.
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Doença de Hashimoto , Doença Relacionada a Imunoglobulina G4 , Feminino , Fibrose , Doença de Hashimoto/diagnóstico , Doença de Hashimoto/patologia , Humanos , Imunoglobulina G , Doença Relacionada a Imunoglobulina G4/diagnóstico , Doença Relacionada a Imunoglobulina G4/patologia , Pessoa de Meia-Idade , Plasmócitos/patologiaRESUMO
PURPOSE: To report a case of lichen simplex chronicus (LSC) of the eyelid and to perform a literature review on this topic. OBSERVATIONS: A 59-year-old African American man presents with chronic and recalcitrant recurrent chalazion of both upper eyelids despite aggressive medical management. An incision and drainage procedure was performed along with biopsy of the eyelid, which was found to be consistent with LSC. A thorough review of the English literature pertaining to LSC of the eyelids was performed by querying PubMed and Google Scholar. Though two clinical reports of LSC of the eyelid were found in older literature, only one such case confirmed by biopsy has been reported until now. CONCLUSIONS: LSC of the eyelid is rare and this is the first reported case that is associated with chronic and recalcitrant chalazion.
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BACKGROUND: Rat bite fever (RBF) is a rare systemic febrile illness transmitted by rats. Streptobacillus moniliformis is a pleomorphic Gram-negative bacillus which is the usual etiologic organism for rat bite fever in the United States. CASE PRESENTATION: Here we present a case of rat bite fever complicated by vertebral osteomyelitis and discitis. The patient revealed an exposure history of being bitten by pet rats. The patient's symptoms dramatically improved with a six-week course of cephalexin therapy. CONCLUSIONS: It is important to obtain a thorough zoonotic exposure history and maintain rat bite fever in the differential when considering potential causes of discitis and osteomyelitis.
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Discite/etiologia , Osteomielite/etiologia , Febre por Mordedura de Rato/complicações , Animais , Animais Domésticos , Antibacterianos/administração & dosagem , Mordeduras e Picadas/complicações , Cefalexina/administração & dosagem , Humanos , Masculino , Pessoa de Meia-Idade , Febre por Mordedura de Rato/diagnóstico , Febre por Mordedura de Rato/tratamento farmacológico , Ratos , Streptobacillus/efeitos dos fármacos , Streptobacillus/isolamento & purificação , Resultado do TratamentoRESUMO
Glycogenic hepatopathy (GH), defined histologically by hepatocytic glycogen accumulation without fatty change or fibrosis, is a benign reversible condition. It presents clinically as hepatomegaly with elevated liver enzymes in young diabetic (type 1) patients with poor glycemic control. We report a case of a 20-year-old female with a history of poorly controlled type 1 diabetes mellitus (T1DM) and prior pancreatitis who presented with sharp epigastric pain and hepatomegaly. She was found to have diabetic ketoacidosis with elevated lipase and amylase. Though at first her symptoms were erroneously attributed to pancreatitis, a liver biopsy showing glycogenated nuclei led to a diagnosis of GH.
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After incurring bilateral tibial fractures and developing sizable hematomas at the trauma sites, a child experienced 4 days of fever with an elevated C-reactive protein level and sedimentation rate. As thrombotic and infectious etiologies were ruled out, the patient's febrile and inflammatory response was likely attributable to hematoma formation. Hematomas are a recognized cause of noninfectious fever. Local release of pyrogenic cytokines within the hematoma may be the source for elevation in temperature and inflammatory markers.
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We describe two cases of young adult men presenting with diffuse petechial rash and gastrointestinal disturbances. They were found to have leukocytoclastic vasculitis without immunoglobulin A findings under direct immunofluorescence on skin biopsy histopathology performed over a week after the appearance of lesions. Henoch Schönlein purpura (HSP) was diagnosed based upon the clinical presentation as well as the leukocytoclastic vasculitis biopsy findings.
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We report a case of attempted suicide by Cerbera odollam seed ingestion by a transgender patient who was successfully treated at our hospital. While the C. odollam plant has multiple practical and ornamental functions, its seeds have traditionally been utilized for suicidal and homicidal purposes in many parts of the world. Physicians should be aware of the presentation, diagnosis, and treatment of C. odollam ingestion given the current ease of availability of these seeds in the United States and the increased reports of suicide attempts.
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IDH-wildtype glioblastoma is a relatively common malignant brain tumor in adults. These patients generally have dismal prognoses, although outliers with long survival have been noted in the literature. Recently, it has been reported that many histologically lower-grade IDH-wildtype astrocytomas have a similar clinical outcome to grade IV tumors, suggesting they may represent early or undersampled glioblastomas. cIMPACT-NOW 3 guidelines now recommend upgrading IDH-wildtype astrocytomas with certain molecular criteria (EGFR amplifications, chromosome 7 gain/10 loss, and/or TERT promoter mutations), establishing the concept of a "molecular grade IV" astrocytoma. In this report, we apply these cIMPACT-NOW 3 criteria to 2 independent glioblastoma cohorts, totaling 393 public database and institutional glioblastoma cases: 89 cases without any of the cIMPACT-NOW 3 criteria (GBM-C0) and 304 cases with one or more criteria (GBM-C1-3). In the GBM-C0 groups, there was a trend toward longer recurrence-free survival (median 12-17 vs 6-10 months), significantly longer overall survival (median 32-41 vs 15-18 months), younger age at initial diagnosis, and lower overall mutation burden compared to the GBM-C1-3 cohorts. These data suggest that while histologic features may not be ideal indicators of patient survival in IDH-wildtype astrocytomas, these 3 molecular features may also be important prognostic factors in IDH-wildtype glioblastoma.
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Neoplasias Encefálicas/genética , Neoplasias Encefálicas/mortalidade , Glioblastoma/genética , Glioblastoma/mortalidade , Adulto , Biomarcadores Tumorais/genética , Feminino , Humanos , Isocitrato Desidrogenase/genética , Masculino , Pessoa de Meia-Idade , PrognósticoRESUMO
INTRODUCTION: Paraneoplastic limbic encephalitis (PLE) is a rare disease that presents as rapid onset dementia characterized by short-term memory loss (STM), anxiety, and behavioral changes. Anti-NMDAR antibodies are unfrequently reported in PLE associated with small-cell lung cancer (SCLC). Given that PLE can precede the diagnosis of cancer, it is very important that once infectious, metabolic, nutritional, or structural disorders associated with short-term memory loss are ruled out that vigorous effort must be made to rule out underlying malignancy. CASE: We report a rare case of PLE as the presenting symptom of SCLC. A 72-year-old male with history of COPD was brought to the ED by his wife after he was found to have short-term memory loss, including forgetfulness of his wedding anniversary the day before, and anxiety. Neurological exam showed impaired short-term recall on MOCA. CT head showed no evidence of infarct. Lumbar puncture was performed which showed lymphocytic pleocytosis, a nonspecific inflammatory change. CSF panel was negative for HSV, Neisseria, Hemophilus, E. coli, and HIV. Initial EEG was unremarkable, though a repeat EEG showed mild slowing of the posterior dominant rhythm consistent with mild encephalopathy. MRI showed equivocal increased FLAIR on T2-weighted images in the bilateral temporal lobes, left greater than right. CTA thorax showed bulky mediastinal and right hilar LAD. FNA of the R4 lymph node revealed SCLC. The NM bone scan showed no osteoblastic lesions. While the serum autoantibody panel was positive for anti-NMDAR, the CSF autoantibody panel returned entirely negative. Chemotherapy with etoposide and cisplatin was started on Day 4 of admission. The patient's neurological symptoms showed improvement following chemotherapy. CONCLUSION: This case highlights the importance of recognizing short-term memory loss as a feature of PLE.
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In this descriptive epidemiological study, the soil-transmitted helminth (STH) burden and pancreatic cancer (PC) mortality rates of different countries and peoples are compared to demonstrate an inverse correlation. Formerly ubiquitous helminth infection possibly played a significant role in defending the human host against PC until the advancement of modern hygiene, with helminth eradication in recent times in developed countries and urban centers. It is posited that a high rate of infection by STH in developing countries and rural areas protects the human host from the development of PC, possibly by immune modulation. This hypothesis is used to explain increased PC rates in minority groups in the United States who had decreased helminth exposure in the late 20th century.
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Chilaiditi's sign refers to the interposition of the colon (usually the transverse colon) between the diaphragm and the liver. When associated with abdominal pain it is referred to as Chilaiditi's syndrome. Chilaiditi's sign is rare entity with an estimated incidence of 0.025 to 0.28% worldwide. The sign occurs more frequently in males, with a male to female ratio of 4:1. Apparent pneumoperitoneum seen on imaging below the right hemidiaphragm, a life-threatening condition, may in fact be merely Chilaiditi's sign. Awareness of this phenomenon and its consideration as a differential diagnosis is essential to prevent unnecessary laparoscopic intervention. Here we present a case of a 74-year-old male who was incidentally found to have free air under the diaphragm without symptoms of abdominal pain. After further evaluation by the radiologists and surgeons it was concluded that he had Chilaiditi's sign and no further intervention was required. However, due to the lack of awareness of this radiographic finding patients can be subjected to unnecessary surgical intervention.