North American Journal of Medicine and Science
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The Role of MHC System in COVID-19 Susceptibility: A Qualitative Review of Current Literature
Get PDFCoronavirus disease-2019 (COVID-19) is a novel pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV2). It presents with wide variations in disease severity, and certain populations appear to be more susceptible than others. The mechanisms of such heterogeneity in disease presentation and susceptibility are largely unclear, and this review article aims to examine the existing evidence for the involvement of the human Major Histocompatibility Complex (MHC) system, which is also known as the Human Leukocyte Antigen (HLA) system, as potential effectors of such heterogeneity. We critically examined peer-reviewed case-control, cohort, and in-silico studies, and classified HLA class 1 and 2 alleles into risk and protective alleles based on existing evidence. Furthermore, we summarized the relationship between HLA-DR expression and COVID-19 pathophysiology based on functional studies. We postulate that the identification of HLA alleles that confer risk or protection for COVID19 will not only shed light on understanding disease epidemiology but will also help to guide vaccine development and predict vaccine efficacy across populations. [N A J Med Sci. 2020;1(1):032-038. DOI: 10.7156/najms.2020.1301032] Key Words: SARS-CoV-2, COVID-19, human leukocyte antigen, major histocompatibility comple
A Rare Case of Chronic Lymphocytic Leukemia Transformed to B-Cell Lymphoma, Unclassifiable, with Features Intermediate Between Diffuse Large B-Cell Lymphoma and Classic Hodgkin Lymphoma
Get PDFRichter’s transformation refers to chronic lymphocytic leukemia (CLL) transforming into diffuse large B-cell lymphoma (DLBCL) or classic Hodgkin lymphoma (CHL). The transformation is associated with TP53 and NOTCH1 mutation, CDKN2A/B deletion, and/or MYC translocation. Here we report a rare case of CLL evolving to B cell lymphoma, unclassifiable, with features intermediate between diffuse large B cell lymphoma and classic Hodgkin lymphoma (BCL-U). The patient was a 61-year-old male with long history of CLL who developed right inguinal lymphadenopathy. The lymph node was biopsied and submitted to flow cytometry, immunohistochemistry, cytogenetics, FISH, and NGS molecular profiling. His peripheral blood and bone marrow were also submitted for similar tests. Our results showed that the peripheral blood and bone marrow were involved by CLL (CD5+, CD23+) with trisomy 12. The lymph node was infiltrated by pleomorphic large lymphoid cells with a subset showing Reed-Sternberg-like lymphoma cells. The lymphoid cells were positive for CD5, CD20, CD45, and CD30. Trisomy 12 was detected, while gene rearrangement for BCL2, BCL6, C-MYC was negative. NGS study on peripheral blood and the lymph node revealed similar mutation profiles (10 mutated genes in a 250 gene panel), including NOTCH1 and CDKN2C mutation. This is the first reported case of CLL transforming to BCL-U. Cytogenetics and molecular profiling confirmed the CLL and BCL-U were clonally related. Among the reported “transformation driving force” mutations, we only detected NOTCH1 mutation. However, we discovered a potential new mutation candidate that might belong to “transformation driving force”: CDKN2C, a molecule closely related to the reported CDKN2A/B. [N A J Med Sci. 2020;1(1):014-017. DOI: 10.7156/najms.2020.1301014] Key Words: Richter’s transformation, chronic lymphocytic leukemia, B cell lymphoma, unclassifiable, with features intermediate between diffuse large B cell lymphoma and classic Hodgkin lymphoma, NOTCH1 mutation, CDKN2C mutatio
Solar Lentigo Evolving into Fatal Metastatic Melanoma in a Patient Who Initially Refused Surgery
Get PDFLentigo maligna may not progress to invasive disease for many decades. We present the unusual case of a woman who underwent well documented periodic evaluations and occasional biopsies of a nasal lesion that gradually progressed from lentigo, to melanoma in situ of lentigo maligna type, to invasive disease, and finally to fatal metastatic melanoma. She had declined curative resection of her tumor for cosmetic reasons. Her clinical course is unusual in that photographs and biopsies document the progression from solar lentigo to fatal disease.[N A J Med Sci. 2020;1(1):028-031. DOI: 10.7156/najms.2020.1301028] Key Words: melanoma; lentigo maligna; metastasis; squamous cell carcinoma; solar lentigo; unstable lentigo*Corresponding Author: Penn State Milton S. Hershey Medical Center, Department of Dermatology HU14, 500 University Drive, Suite 100, Hershey, PA 17033. Tel: 717-531-6820, Fax: 717-531-4702. (Email: [email protected]
Sclerosing Mesenteritis Involving the Small Bowel and Large Bowel Mesentery: A Case Report and Review of the Literature
Get PDFMesenteric Panniculitis/Sclerosing Mesenteritis is an under diagnosed, rare chronic fibrosing inflammatory disease that affects the mesenteric adipose tissue of the small intestine and rarely the mesocolon. The disease poses diagnostic challenge due to its non- specific clinical and radiologic findings. Biopsy and histopathologic evaluation is required where there is clinical or radiological suspicion of neoplasia. Management of Mesenteric Panniculitis / Sclerosing Mesenteritis depends on the presentation, with medical therapy preferred for symptomatic patients and surgery reserved for life threatening complications. We represent a case of a 71-year old man who presented with vague abdominal symptoms. Computed Tomography and Positron Emission scans demonstrated mesenteric lesions suspicious for carcinoid. A diagnosis of Mesenteric Panniculitis / Sclerosing Mesenteritis was made on histologic evaluation. The patient’s symptoms on follow up did not warrant any therapeutic interventions till the writing of this article. [N A J Med Sci. 2019;12(1):001-006. DOI: 10.7156/najms.2019.1201001
Solid Pseudopapillary Tumor of Pancreas in a 15-year-old Female: A Case Report
Get PDFSolid pseudopapillary tumor (SPT) is a very rare tumor accounting for only 1% of all pancreatic exocrine tumors. In this case, patient is a 15-year-old female with history of obesity and oligomenorrhea. She was admitted with a six-day history of severe upper abdominal pain, non-bloody vomiting and occasional diarrhea with no history of fever or sick contact. MRI abdominal examination with contrast showed a cystic 3.4 x 2.2 x 2.0 cm mass in the tail of the pancreas. Patient then underwent the distal pancreatectomy and splenectomy. Grossly, the tumor mass is well-circumscribed and has a tan/yellow cystic cut surface. Microscopically, most of the tumor tissue is necrotic. Sheets of cells demonstrate pseudopapillary arrangement in the preserved area. The nuclei are uniform without apparent mitotic figures and cytoplasm is moderate and eosinophilic. Immunohistochemistry study revealed that tumor cells are positive for CD10, progesterone receptor, synaptophysin and nuclear beta-catenin staining. Diagnosis of this case is challenging because extensive necrosis of the tumor tissue, however, the small areas of residual tumor still retain the pseudopapillary architecture and nested pattern. Individual tumor cells have monotonous low grade character. Immunoprofile also supports the diagnosis of solid pseudopapillary tumor. [N A J Med Sci. 2019;12(1):021-023. DOI: 10.7156/najms.2019.1201021
Total Prostate-Specific Antigen (tPSA) Outperforms Free PSA Percentage (fPSA%) in Detecting High-grade Prostate Carcinoma (PCa) in Patients Older than 60 Years of Age
Get PDFThe PSA-based prostate cancer (PCa) screening remains a controversial topic. Total PSA (tPSA) levels along with % free PSA (fPSA%) still remain the most widely used screening markers for PCa in clinical practice. To assess tPSA and fPSA% screening performance and threshold to identify high-grade PCa, a large hospital-based cohort study is executed. A total of 853 patients who received 6 or 12 core prostate biopsies between January 2011 and August 2016 were included in the study and the tPSA and fPSA% were evaluated. The highest tPSA and lowest fPSA% levels within the prior 2 years of the biopsies were scrutinized. Both tPSA and fPSA% have the ability to discriminate patients with PCa from men without PCa. Intriguingly, only tPSA levels in patients older than 60 years showed a significant difference between men with and without PCa. More aggressive PCa also tends to occur in older patients (Ptrend = 0.045). With a level of tPSA > 20ng/mL, the likelihood ratio for detecting PCa with pathologic Gleason score > 8 is 6.43, with 95% specificity and 30% sensitivity. fPSA% did not show a correlation with PCa histological grades or patients’ age. Both tPSA and fPSA% have significant predictive values in PCa screening. The tPSA levels with the highest predictive value for PCa were achieved in patients older than 60 years in our cohort. Furthermore, a higher level of tPSA, such as 20 ng/mL rather than the widely adopted screening cutoffs (i.e. 4.0 or 10.0 ng/mL) is significantly associated with a high-grade PCa. [N A J Med Sci. 2019;12(1):007-013. DOI: 10.7156/najms.2019.1201007
Effects of Simulated Gastrointestinal Digestion on Antioxidant Activities of Individual and Mixed Fruits
Get PDFFruits are important part of dietary pattern and correlated with a lower risk of chronic diseases because they contain many natural antioxidants. The gastrointestinal digestion could affect on antioxidant activities of fruits. In this study, we investigated the effects of simulated gastrointestinal digestion on the antioxidant activities of individual and mixed fruits. In the gastric digestion, the FRAP values of all 11 fruits exhibited a decreased tendency, and the TEAC values showed an increased tendency. The TPC exhibited different results in the 11 fresh fruit samples. In fruits combination groups, no notable difference was found on the interaction with the FRAP values, and different interactions were detected with the TEAC values (p < 0.05). The gastric process did not make any difference on the TPC between the fruit combinations, but after the duodenal digestion the TPC of group 4 were notably decreased, and the TPC of groups 5 and 8 were increased (p < 0.05). Therefore, the different fruit extracts have different behaviors in tests of FRAP, TEAC, and TPC after the simulated digestion process. Further researches should be done to help explore the mechanisms of the different interactions.[N A J Med Sci. 2019;12(1):014-020. DOI: 10.7156/najms.2019.1201014
Cutaneous Epithelioid Malignant Peripheral Nerve Sheath Tumor: A Case Report
Get PDFMalignant peripheral nerve sheath tumor (MPNST) is a rare soft tissue sarcoma arising from neuroectoderm-derived cells comprising the outer coverings of peripheral nerves. Given the diverse cell types comprising the peripheral nerve sheath, both benign and malignant nerve sheath tumors display a wide range of histologic appearances. MPNST can arise either in association with proximal nerve trunks at deep body sites, or from distal nerve branches residing within skin and subcutaneous tissues. Overall, roughly 50% of MPNST arise in patients with neurofibromatosis type I. The remainder occur sporadically. We report herein a rare epithelioid example of MPNST arising sporadically within a cutaneous neurofibroma. We also offer a brief clinico-pathologic review of MPNST, including diagnostic workup, differential interpretation, treatment and prognosis.[N A J Med Sci. 2018;11(1):15-18. DOI: 10.7156/najms.2018.110115
Alopecia Areata and Scarring Alopecia Presenting During Golimumab Therapy for Ankylosing Spondylitis
Get PDFGolimumab is a human monoclonal antibody useful in the treatment of a wide variety of inflammatory conditions including ankylosing spondylitis, rheumatoid arthritis, psoriatic arthritis, and ulcerative colitis. Golimumab’s clinical efficacy is attributed to its inhibition of tumor necrosis factor alpha (TNF-α). As more individuals have been treated with anti-TNF-α therapy, increased numbers of side effects have been identified. We report a patient with a long history of ankylosing spondylitis and atopic dermatitis who noted exacerbation of his alopecia areata early on, and subsequently developed scarring alopecia and facial rash. Clinicians should be aware of the autoimmune reactions associated with golimumab to better inform decisions about therapy and management of underlying rheumatologic disease. [N A J Med Sci. 2018;11(1):22-24. DOI: 10.7156/najms.2018.110122
Autism Treatment from Acupuncture Perspective
No full textAlthough acupuncture has been used in the treatment of autism for many years, almost no formal clinical trials have been devoted to confirm the effectiveness of the acupuncture for the disease in the western countries, where a big population of children and family have been suffering from the shortage of effective therapy. This review is to summarize the reports from about 20 clinical trials of acupuncture for autism in the last decade in China. The results of these reports suggested that acupuncture may be a potentially valuable approach in treating autism. Around 80% symptom improvements were stated in most of the studies. The reports also demonstrated that acupuncture may enhance the efficacies of conventional therapies for autism, such as behavior rehabilitation therapy. It was suggested that the effects of acupuncture for autism may be partially related with its effects on anti-inflammation and on the modulation of the brain signal conductivity, supported by the research including fMRI. A concept of transcranial electrical acupuncture stimulation (TEAS) is proposed. Compared with the conventional acupuncture technique, TEAS is hypothesized to target directly on the brain lesions of autism through modulating hyperpolarized or depolarized neurons of the brain, in order to improve the pathological status of autism. Clinical trials are needed to approve the proposal in the future