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1.
Cureus ; 15(11): e49711, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38161810

RESUMO

Endocrine mucin-producing sweat gland carcinoma (EMPSGC) is a rare, low-grade neuroendocrine neoplasm previously believed to be indolent in nature. There have only previously been six reported cases of metastases and none of thoracic structures. This case shows a metastatic EMPSGC in a 72-year-old male with a complex oncologic history and is the first reported case of metastases to the lung. As increased recognition of this entity continues to grow, it is important to consider it as part of the differential in mucinous and/or neuroendocrine neoplasms for appropriate management. This case adds to the oncologic literature by demonstrating a rare cutaneous neoplasm and emphasizing its metastatic potential.

2.
Cureus ; 15(8): e44476, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37664330

RESUMO

Head and neck cancers represent a significant source of morbidity and mortality across the world. The individual genetic makeup of each tumor can help to determine the course of treatment and can help clinicians predict prognosis. Non-invasive tools to determine the genetic status of these tumors, particularly p16 (human papillomavirus (HPV)) status could prove extremely valuable to treating clinicians and surgeons. The field of radiomics is a burgeoning area of radiology practice that aims to provide quantitative biomarkers that can be derived from radiological images and could prove useful in determining p16 status non-invasively. In this review, we summarize the current evidence for the use of radiomics to determine the HPV status of head and neck tumors. .

3.
J Neurol Sci ; 451: 120734, 2023 08 15.
Artigo em Inglês | MEDLINE | ID: mdl-37478793

RESUMO

Cylindrical spirals (CSs) are ultrastructurally distinct, intracytoplasmic inclusions characterized by concentrically wrapped lamellae, which are rarely found in skeletal muscle biopsies on electron microscopy (EM). CSs are often confused with other EM concentric structures including concentric laminated bodies and mitochondrial concentric cristae (MCC), due to similarities in these ultrastructures. In this study, we found CSs in 9 muscle biopsies from 9 patients, accounting for 0.5% of the biopsies examined routinely by EM. The frequency of CSs in these muscles varied from sparse and segregated to focally frequent and aggregated. CS-associated features included muscle fiber denervation atrophy in all 9 cases, fiber type grouping in 7/8 cases, tubular aggregates in 3/9 cases, and MCC in 2/9 cases. We also compared the concentric structures and highlighted their differences to distinguish CSs from other similar structures. Clinically, 8 out of 9 patients were adults aged 41-74 years and only one patient was 17 month-old. CSs were associated with several neurological diseases including Huntington's disease, amyotrophic lateral sclerosis, Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes, and other complex neurological disorders with neuropathy/encephalopathy, as well as anti-MDA5+ dermatomyositis. Eight of nine patients had genetic findings such as trinucleotide repeat expansion of huntingtin gene, ALS2 variant, MT-TL1 m.3243A > G mutation, and PMP 22 gene deletion. These results suggest that CSs may be highly variable in frequency and likely are under-reported/under-detected; they may be associated with neurogenic myopathy or central/peripheral nervous system disorders including some genetic neurological/neuromuscular diseases. Our findings of more CS-associated neurological diseases and an association of CSs with muscle neurogenic features may contribute to a better understanding of the clinico-pathological significance of CSs.


Assuntos
Doença de Huntington , Doenças Musculares , Doenças Neuromusculares , Adulto , Humanos , Lactente , Músculo Esquelético/patologia , Doenças Musculares/patologia , Doença de Huntington/patologia , Atrofia Muscular/patologia
4.
J Forensic Sci ; 63(6): 1870-1874, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29495066

RESUMO

HbA1c is used in forensic toxicology to identify undiagnosed diabetes mellitus (DM) and those with poor glycemic control prior to death. HbA1c is typically measured in whole blood collected in tubes containing ethylenediaminetetraacetic acid (EDTA). The effect of other additives, including sodium fluoride (NaF), is unclear. Furthermore, the assessment of short- and long-term stability of HbA1c has produced conflicting results. In this study, we collected paired postmortem blood samples in EDTA and NaF tubes (n = 142) to assess their comparability for HbA1c measurement. Stability was assessed by measuring HbA1c at baseline, 2, 3, and 4 weeks postcollection (stored at 4°C) and at 2, 4, 6, and 12 months postcollection (stored at -20°C). We found no significant difference in HbA1c between the two preservatives at any of the time points indicating NaF is a suitable preservative for HbA1c measurement. We also determined that DM status, postmortem interval, and decomposition had no effect on stability.


Assuntos
Ácido Edético , Fixadores , Hemoglobinas Glicadas/análise , Fluoreto de Sódio , Manejo de Espécimes , Diabetes Mellitus/sangue , Medicina Legal , Humanos , Modelos Lineares , Mudanças Depois da Morte , Estações do Ano , Fatores de Tempo
5.
Clin Biochem ; 58: 94-99, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29885310

RESUMO

INTRODUCTION: Barricor™ Vacutainers® are a novel non-gel separator blood collection tube. These tubes enable faster pre-analytical processing which could reduce turnaround time and be beneficial in an acute care setting. We sought to evaluate the bias, stability, and integrity of plasma generated from these tubes compared to Plasma Separator Tubes™ (PST) for 50 routine chemistry analytes on a Roche Cobas® 8000 analyzer. METHODS: Paired samples were collected from 150 patients originating in the emergency department and outpatient collections at the Saint John Regional Hospital. Barricor™ vacutainers were centrifuged for 3 min at 4000g and PST™ vacutainers for 10 min at 1300 g within two hours of collection. Plasma samples (n = 126) were then analyzed for 50 chemistry analytes and bias determined between tubes. Ten-day stability of AST, glucose, potassium, phosphate, and LDH was also assessed in a subset of paired samples (n = 4). Lastly, the quality of plasma (n = 20) was assessed through measurement of cell counts on a DxH Hematology Analyzer. RESULTS: All 50 analytes demonstrated comparable results across a broad concentration range between Barricor™ and PST™ vacutainers (average percent bias -1.5% to 6.1%; Deming linear regression slopes 0.933-1.041; correlation coefficients ≥ 0.9144). AST, potassium, glucose and LDH were stable for 10 days in Barricor™ vacutainers (change from baseline < 10%) but <5 days in PST™ vacutainers while phosphate was stable for 4 days in Barricor™ vs 2 days in PST™ vacutainers. Platelet counts were statistically lower in Barricor™ compared to PST™ vacutainers. CONCLUSION: Our data suggest that Barricor™ vacutainers are an acceptable alternative to PST™ vacutainers while offering the added benefit of decreased pre-analytical processing time, increased stability of certain analytes, and possibly less cellular contamination.


Assuntos
Análise Química do Sangue/instrumentação , Plasma/química , Manejo de Espécimes/instrumentação , Análise Química do Sangue/métodos , Humanos , Manejo de Espécimes/métodos
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