North American Journal of Medicine and Science
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Evaluation of the Vysis IntelliFISH Hybridization Buffer and Vysis IntelliFISH Universal FFPE Pretreatment and Wash Kit in FISH Assays
Get PDFStandard fluorescence in-situ hybridization (FISH) technique requires a hybridization time of 12 hours or greater, thus amounting to a turn-around time (TAT) of 24 hours or greater for result reporting. To improve the TAT for the FISH tests, a new Vysis IntelliFISH Hybridization Buffer has been recently developed by Abbott Molecular. It was evaluated in 20 pairs of matched bone marrow samples and 10 pairs of matched formalin-fixed lymphoma tissue samples against the standard Vysis LSI/WCP Hybridization Buffer protocol. Compared to the standard Vysis LSI/WCP Hybridization Buffer protocol, the new fast working Vysis IntelliFISH Hybridization Buffer protocol reduced FISH hybridization time and simplified the workflow of the standard overnight hybridization protocol. In addition, signal intensity, slide background and signal specificity of FISH probes were comparable to those generated with the standard hybridization protocol. [N A J Med Sci. 2017;10(1):5-7. DOI: 10.7156/najms.2017.1001005
Value of Serum IgG4 in the Diagnosis of Autoimmune Pancreatitis and in Distinguishing it from Acute and Chronic Pancreatitis of Other Etiology
Get PDFImmunoglobulin G4 (IgG4)-related autoimmune pancreatitis (AIP) is one of the most common clinical presentations of the IgG4-related disease and distinct from acute pancreatitis and chronic pancreatitis derived from other etiology. Elevated serum IgG4 concentration has been established as one of the diagnostic criteria for AIP. However, a subset of patients of AIP have normal serum IgG4. It is essential to establish the value of serum IgG4 level in identifying AIP patients in clinical setting, and its association with the severity of the disease and the pathology diagnosis. We performed a retrospective study involving 67 patients who were identified to have elevated serum IgG4 measurements (>86 mg/dL) from a pool of 833 patients in our institute from 2012 to 2015. The concentration of serum IgG4 was significantly higher in AIP compared to acute pancreatitis and chronic pancreatitis of other etiology (p<0.01). The sensitivity of distinguishing AIP from acute and chronic pancreatitis of other etiology increased from 61% to 100% as the cutoff value for serum IgG4 was set from 135 mg/dL to 86 mg/dL. On the other hand, the specificity was decreased from 98% to 91%. A cutoff value of 120 mg/dL gave rise to the highest specificity without sacrificing the sensitivity. The level of serum IgG4 exhibited a trend to associate with the severity of IgG4-related AIP determined clinically based on the endoscopic ultrasound findings, although it did not reach statistical significance (p value = 0.05). All the pathology-proven cases of IgG4-related AIP exhibited elevated serum IgG4 concentration. Only one of eight cases of non-AIP cases confirmed by pathology showed elevated serum IgG4. [N A J Med Sci. 2017;10(3):94-99. DOI: 10.7156/najms.2017.1003094
Transient Visual Loss Associated with the Factor V Leiden Mutation
Get PDFTransient visual loss may be a manifestation of reduced ophthalamic or cortical perfusion or related to migraine or migraine equivalent phenomenon. Although transient and permanent loss of vision has been described in several hypercoagulable states, transient visual loss has not been described in patients with the Factor V Leiden mutation. In this report, we describe two patients this hypercoagulability state that presented to the emergency department with transient visual disturbance. Although headache was also part of the presenting symptoms, the visual disturbance did not consistently precede the headache in the classical migraine aura pattern. Several reports have demonstrated an increased incidence of hypercoagulable states in migraine with aura suffers. It may be that patients with hypercoagulability states have ischemic events that are misclassified as migraine with aura.[N A J Med Sci. 2017;10(2):61-64. DOI: 10.7156/najms.2017.1002061
Porokeratosis Concurrent and Coexistent with Psoriasis Vulgaris
Get PDFDisseminated superficial actinic porokeratosis is a rare photodistributed disorder that has occasionally been reported in association with psoriasis. Treatment of psoriasis with phototherapy may trigger the onset of porokeratosis in some cases. In other cases, the coexistence of these disorders may be coincidental. Clinical inspection of lesions of coexisting porokeratosis and psoriasis reveals increased erythema, diffuse and thickening of cornoid lamellae, as well as increased scale. These subtle yet characteristic features allow for correct clinical diagnosis and are associated with corollary histologic findings. Psoriatic changes occurring in lesions of porokeratosis are likely explained by the isomorphic (Koebner) response. Physicians should be aware that these two disorders can co-exist in order to ensure correct diagnosis and proper treatment.[N A J Med Sci. 2017;10(2):70-72. DOI: 10.7156/najms.2017.1002070
Paradoxical Associations of Diabetes and Obesity with Abdominal Aortic Aneurysm
Get PDFAbdominal aortic aneurysm (AAA), defined as a localized dilatation of abdominal aorta, is a significant cause of morbidity and mortality in aging populations. AAA is a life-threatening disease mainly because of the high fatality rates associated with aneurysm rupture. Early detection of AAAs will provide patients an opportunity to receive medical therapy and undergo elective repair before aneurysm rupture. Historically, AAA is considered a macrovascular atherosclerotic disease. Classic risk factors of atherosclerosis, such as advanced age, male gender, smoking, hyperlipidemia, and hypertension, have been associated with an increased risk of AAA formation and expansion. However, more recent laboratory and epidemiologic studies have challenged this conventional theory and indicate that the etiology of AAA is distinct from atherosclerosis per se. This review focused on the evidence on the seemingly paradoxical inverse and positive associations of diabetes and obesity, respectively, with AAA. AAA progresses more slowly in diabetics and diabetic patients are less likely to have a ruptured AAA at the time of repair, suggesting that diabetes or its medications may protect against the development and improve the prognosis of AAA. Meanwhile, obesity has been implicated in the pathogenesis of both diabetes and atherosclerosis, for which the key mechanisms include insulin resistance and release of adipokines. Data on the associations between measures of obesity and AAA are inconsistent. Insights into the relation between diabetes, obesity and AAA will help identify high-risk subpopulations for AAA screening and optimize prevention strategy for individual patients. An improved knowledge of the mechanisms underlying the link between diabetes, obesity and AAA also has important therapeutic implications. [N A J Med Sci. 2017;10(2):83-87. DOI: 10.7156/najms.2017.1002083]
Compounded Topical Medications for Diseases of the Skin: A Long Tradition Still Relevant Today
Get PDFCompounded medications remain an important component of the physicians’ armamentarium. As the volume of scientific information taught in medical school increases, the time devoted to teaching traditional treatments can at times become limited. This succinct manuscript will focus on introducing the reader to this therapeutic option and highlight some of the compounded treatments used in the management of skin diseases.[N A J Med Sci. 2017;10(3):116-118. DOI: 10.7156/najms.2017.1003116
Can Transarterial Chemoembolization of Hepatocellular Carcinoma Result in Transformation to Combined Hepatocellular-Cholangiocarcinoma with Stem Cell Features? A Case Study
Get PDFTransarterial chemoembolization (TACE) is currently one of the favored treatment modalities for non-curative hepatocellular carcinoma (HCC) and can be used to shrink tumor size in order to make a patient eligible for transplantation. Furthermore, with the advent of effective antiviral drugs for hepatitis B virus (HBV), concomitant antiviral therapy with local tumor ablation including TACE for HBV-associated HCC has been successful for long term survival. Over the last decade, however, concern has been raised about a phenomenon whereby a subset of TACE-treated HCCs becomes more aggressive after TACE treatment. One current hypothesis is that TACE eliminates only the hepatocellular cells and that hepatic progenitor cells that have the potential for developing to cholangiocarcinoma are then selected for and induced to proliferate post-TACE with possible dual differentiation along hepatocellular and biliary lines. We present a case of a patient with HCC who underwent TACE and subsequently experienced tumor regrowth as biopsy-proven combined hepatocellular-cholangiocarcinoma. Furthermore, we provide immunohistochemical evidence of hepatic progenitor cells in the post-TACE tumor biopsy, possibly accounting for its aggressive course.[N A J Med Sci. 2017;10(4):181-186. DOI: 10.7156/najms.2017.1004181
A Rare Case of Myelodysplastic Syndrome with Ring Sideroblasts, SF3B1 and TET2 Mutations in a Patient with Beta Thalassemia Trait
Get PDFConcurrent myelodysplastic syndrome (MDS) and β-thalassemia trait is rare. We reported a case of a 59-year-old man with a known history of β-thalassemia (presumed to be β-thalassemia intermedia) presenting with progressive anemia and worsening fatigue. β-globin mutation analysis revealed a heterozygous mutation in the beta-globin gene, compatible with β-thalassemia trait. Bone marrow biopsy showed erythroid hyperplasia and erythroid dysplasia with increased ring sideroblasts (>15%). Additionally, there is also mild myeloid and megakaryocytic dysplasia. Molecular analysis revealed SF3B1 and TET2 mutations. These findings are consistent with myelodysplastic syndrome with ring sideroblasts (MDS-RS). To the best of our knowledge, this is the first report of MDS-RS with SF3B1 and TET2 mutations in a patient heterozygous for β-globin gene mutation. For β-thalassemia patients with worsening anemia, a comprehensive bone marrow analysis including cytogenetic and molecular studies is important to help further delineate the diagnosis. [N A J Med Sci. 2017;10(1):32-35. DOI: 10.7156/najms.2017.1001032
Gliomatosis Peritonei: Report of Two Cases and Literature Review
Get PDFGliomatosis peritonei (GP) is a rare condition characterized by intraabdominal (peritoneal, nodal and omental) implants of glial tissue. GP is believed to be commonly associated with immature ovarian teratoma and possesses favorable prognosis. However, the origin of GP is controversial and its clinical outcomes vary. Here we reported 2 cases of GP arising in mature and immature ovarian teratoma, respectively. Recent literature is also reviewed. [N A J Med Sci. 2017;10(1):36-39. DOI: 10.7156/najms.2017.1001036
A Case of CD5-/Cyclin D1+/SOX11- Mantle Cell Lymphoma with an Aberrant Immunophenotype and Indolent Clinical Course
Get PDFMantle cell lymphoma (MCL) is a clinically aggressive B-cell lymphoma associated with 11q13 translocation, which leads to cyclin D1 overexpression in almost all cases. Although CD5 expression is characteristic in MCL, rare CD5 negative cases with variable expression of CD10 and CD23 have been reported. Over the recent years, a subgroup of MCL with a relatively indolent clinical course started to be recognized. Herein, we report a case of CD5-/Cyclin D1+/SOX11- MCL in a 75-year-old female with diffuse and persistent lymphoma involving multiple lymph nodes, spleen, bone marrow, and lacrimal ducts over the course of nine years. Despite multiple chemotherapy regimens, the MCL had slowly progressed while her baseline health condition remained stable. The neoplastic lymphocytes from different time points during her clinical course showed similar histological features, genetic abnormality, and immunophenotypes. In particular, the lymphoma cells were CD5-, with overexpression of cyclin D1, aberrant expression of CD10 and BCL-6, absence of SOX11 expression, and presence of t(11; 14) (q13; q32) translocation. The indolent clinical course and unusual immunophenotype suggest this particular type of MCL may be considered a unique subentity under MCL. [N A J Med Sci. 2017;10(1):40-44. DOI: 10.7156/najms.2017.1001040