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2.
APMIS ; 127(5): 265-287, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30740783

RESUMO

Until recently, diagnostics of brain tumors were almost solely based on morphology and immunohistochemical stainings for relatively unspecific lineage markers. Although certain molecular markers have been known for longer than a decade (combined loss of chromosome 1p and 19q in oligodendrogliomas), molecular biomarkers were not included in the WHO scheme until 2016. Now, the classification of diffuse gliomas rests on an integration of morphology and molecular results. Also, for many other central nervous system tumor entities, specific diagnostic, prognostic and predictive biomarkers have been detected and continue to emerge. Previously, we considered brain tumors with similar histology to represent a single disease entity. We now realize that histologically identical tumors might show alterations in different molecular pathways, and often represent separate diseases with different natural history and response to treatment. Hence, knowledge about specific biomarkers is of great importance for individualized treatment and follow-up. In this paper we review the biomarkers that we currently use in the diagnostic work-up of brain tumors.


Assuntos
Biomarcadores Tumorais , Neoplasias Encefálicas/diagnóstico , Astrocitoma/diagnóstico , Astrocitoma/genética , Neoplasias Encefálicas/genética , Ependimoma/diagnóstico , Ependimoma/genética , Glioma/diagnóstico , Glioma/genética , Humanos , Meduloblastoma/diagnóstico , Meduloblastoma/genética , Meningioma/diagnóstico , Meningioma/genética , Mutação , Oligodendroglioma/diagnóstico , Oligodendroglioma/genética , Tumor Rabdoide/diagnóstico , Tumor Rabdoide/genética
3.
Gastroenterology Res ; 10(6): 329-333, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29317939

RESUMO

BACKGROUND: Lymphocytic colitis (LC) is a chronic disorder characterized by watery diarrhea. This study sought to evaluate if LC recurs after therapy, and the time frame in which this occurs. Secondary objectives included length and type of therapy, drug-free intervals, and reasons for drug discontinuation. METHODS: A retrospective chart review between January 1, 2008 and October 30, 2015 of patients with biopsy-confirmed lymphocytic, collagenous, or microscopic colitis was conducted. Patient-reported average bowel movements/day were reviewed. Demographic data, dates of colonoscopy, follow-up, type and dose of medications used, and therapy start/stop dates were reviewed. RESULTS: Patients presenting with colonoscopic documented LC (n = 114) were predominantly female (88%), Caucasian (97%), with mean bowel movements/day of five. A total of 58/114 (51%) patients were placed on a therapy. Patients taking budesonide saw bowel movements/day reduced from 4.7 to 2.4 compared to 5.8 to 2.8 for those given 5-aminosalicylic acid (5-ASA). First-line medications budesonide and 5-aminosalicylic acid failed in 12/58 (21%) of patients, other drugs also resulted in therapy changes. Thirty-five percent required their initial therapy changed and of those 40% required a second change. Symptom exacerbations were documented during therapy for 19% of patients; therapy changes resulted in good response. CONCLUSIONS: Almost half of all LC cases (56/114) gradually improved without requiring therapy. Seventy-six percent of our treated patients responded well to budesonide when used as the first-line therapy. Similarly, 61.5% responded to 5-ASA. Budesonide was the drug of choice for flares. Tailoring drug therapy to meet individual patient's needs appears to be the best current approach to managing LC.

4.
Case Rep Crit Care ; 2016: 1656182, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27088018

RESUMO

Canagliflozin (Invokana) is a selective sodium glucose cotransporter-2 (SGLT-2) inhibitor that was first introduced in 2013 for the treatment of type 2 diabetes mellitus (DM). Though not FDA approved yet, its use in type 1 DM has been justified by the fact that its mechanism of action is independent of insulin secretion or action. However, some serious side effects, including severe anion gap metabolic acidosis and euglycemic diabetic ketoacidosis (DKA), have been reported. Prompt identification of the causal association and initiation of appropriate therapy should be instituted for this life threatening condition.

5.
Case Rep Infect Dis ; 2015: 495898, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26171262

RESUMO

Introduction. Streptococcus constellatus collectively with Streptococcus anginosus and Streptococcus intermedius constitute the Streptococcus anginosus (formerly Streptococcus milleri) group. Though they are commonly associated with abscesses, bacteremia with subsequent septic thrombophlebitis is extremely rare, and resulting mortality is infrequent. Case Presentation. We report a case of a previously healthy 60-year-old African American female who presented with Streptococcus constellatus bacteremia associated with septic thrombophlebitis to the right ovarian vein extending into the inferior vena cava. She was urgently treated with antibiotics and anticoagulation. Conclusion. Septic thrombophlebitis has a clinical presentation that is often misleading. Therefore, a high clinical index of suspicion and the use of appropriate imaging modalities (computed tomography) are essential in recognizing and confirming this diagnosis. Prompt treatment is warranted. Surgical thrombectomies have been successfully replaced by a combination of antibiotics and anticoagulation therapy.

6.
Am J Case Rep ; 16: 87-94, 2015 Feb 16.
Artigo em Inglês | MEDLINE | ID: mdl-25683183

RESUMO

BACKGROUND: A subset of undifferentiated small round cell sarcomas (USRCSs) is currently being recognized as emerging entities with unique gene fusions: CIC-DUX4 (the area of focus in this article), BCOR-CCNB3, or CIC-FOXO4 gene fusions. CIC-DUX4 and CIC-FOXO4 fusions have been reported in soft tissue tumors, while BCOR-CCNB3 fusion with an X chromosomal inversion was described in both bone and soft tissue tumors. CIC-DUX4 fusion can either harbor t(4;19)(q35;q13.1) or t(10;19)(q26.3;q13), while t(4;19)(q35;q13.1) is reported more commonly. CASE REPORT: The aim of this study is to share a new case report of a 36-year-old woman who had a rapidly growing mass in her right upper thigh, which was found to be an undifferentiated small round cell sarcoma with t(4;19)(q35;q13.1) CIC-DUX4 fusion was confirmed by cytogenetic testing. Combined modality treatment with surgery, radiation, and chemotherapy was used and achieved a good response. A review of the literature of the reported cases with CIC-DUX4 fusions including both t(4;19) and t(10;19) translocations revealed a total of 44 cases reported. Out of these 44 cases, 33 showed t(4;19)(q35;q13.1) translocation compared to 11 cases with t(10;19)(q26.3;q13). CONCLUSIONS: Undifferentiated small round cell sarcomas are aggressive tumors. Their treatment includes surgery, chemotherapy, and radiation. Resistance to chemotherapy is common. Lung and brain are common sites of metastasis, with associated poor prognosis. Generally, median survival is less than 2 years. Newer techniques have been developed recently which helped identify a subset of previously unclassifiable sarcomas, with promising prognostic value.


Assuntos
Proteínas de Fusão Oncogênica/fisiologia , Sarcoma de Células Pequenas/genética , Sarcoma de Células Pequenas/patologia , Neoplasias de Tecidos Moles/genética , Neoplasias de Tecidos Moles/patologia , Translocação Genética , Adulto , Cromossomos Humanos 19-20 , Cromossomos Humanos 4-5 , Feminino , Humanos , Coxa da Perna
7.
Am J Case Rep ; 15: 266-70, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24967002

RESUMO

PATIENT: Male, 81 FINAL DIAGNOSIS: Prostate cancer Symptoms: Anorexia • dark urine • joundice • letargy MEDICATION: Casodex Clinical Procedure: - Specialty: Oncology. OBJECTIVE: Adverse events of drug therapy. BACKGROUND: Bicalutamide is a nonsteroidal anti-androgen used extensively during the initiation of androgen deprivation therapy with a luteinizing hormone-releasing hormone (LHRH) agonist to reduce the symptoms of tumor flare in patients with metastatic prostate neoplasm. It can cause gynecomastia, hot flashes, fatigue, and decreased libido through competitive androgen receptor blockade. Although not as common, acute drug-induced liver injury is also possible with bicalutamide therapy. Typically, this results in transient derangement of liver function and patients remain asymptomatic. We share our experience with a case of symptomatic acute hepatotoxicity secondary to the use of bicalutamide and use this opportunity to present a brief review of existing literature. CASE REPORT: An 81-year-old African American male with metastatic prostate neoplasm presented with nonspecific symptoms along with jaundice of 1-day duration. He was started on a trial of bicalutamide 3 weeks prior to presentation. On physical examination, scleral icterus was noted. Workup revealed acutely elevated liver transaminases (>5 times the upper limit of normal), alkaline phosphatase, conjugated hyperbilirubinemia, and coagulopathy. Other etiologies, including viruses, common toxins, drugs, autoimmune, and copper-induced hepatitis, were considered. Bicalutamide was discontinued and the patient was managed with supportive care. He showed improvement of clinical and laboratory abnormalities within days. CONCLUSIONS: While rare, clinically significant and potentially life-threatening liver injury can result from use of bicalutamide. Prompt recognition and discontinuation of bicalutamide is necessary to avoid serious complications from this adverse reaction.

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