North American Journal of Medicine and Science
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Cecal Bascule after Colonoscopy - Case Report and Review of Literature
Cecal bascule is a rare disease variant of a cecal volvulus. It consists of upward and anterior folding of the ascending colon, forming a flap valve, and occluding the bowel lumen resulting in proximal cecal dilatation. Herein, we present a case of a patient who developed persistent abdominal pain few hours after a colonoscopy. CT scan of the abdomen revealed an upward and anterior folding of the cecum. Subsequently the patient was taken to the operating room for a right hemi-colectomy. This case emphasizes the importance to consider cecal bascule as a differential diagnosis in patients with persistent abdominal pain after colonoscopy, considering the ease of diagnosis with imaging studies and emergent surgical correction.
Chronic Hepatitis C Virus Infection: A Review of Current Direct-Acting Antiviral Treatment Strategies
Chronic Hepatitis C virus (HCV) infection carries a significant clinical burden in the United States, affecting more than 4.6 million Americans. Untreated chronic HCV infection can result in cirrhosis, portal hypertension, and hepatocellular carcinoma. Previous interferon based treatment carried low rates of success and significant adverse effects. The advent of new generation oral antiviral therapy has led to major improvements in efficacy and tolerability but has also resulted in an explosion of data with increased treatment choice complexity. Treatment guidelines are constantly evolving due to emerging regimens and real world treatment data. There also still remain subpopulations for whom current treatments are lacking or unclearly defined. Thus, the race for development of HCV treatment regimens still continues. This review of the current literature will discuss the current recommended treatment strategies and briefly overview next generation agents.[N A J Med Sci. 2016;9(2):47-54. DOI: 10.7156/najms.2016.0902047
Thrombotic Thrombocytopenic Purpura Induced by Acute Pancreatitis
Thrombotic thrombocytopenic purpura (TTP) is a rare blood disorder characterized by clotting in small blood vessels of the body (microthrombi), resulting in a low platelet count. The disease consists of the pentad of microangiopathic hemolytic anemia, thrombocytopenic purpura, neurologic abnormalities, fever and renal disease. Many symptoms could develop with acute pancreatitis but being able to differentiate when it is associated with any hematological conditions such as TTP is crucial to initiate a proper medical treatment. We present a rare case of a thirty-eight years old African American female, who presented to the Emergency department with an abdominal pain associated with a pancreatic condition. A vital piece in medical practice is recognizing lifesaving decisions in critical conditions cases. Acute Pancreatitis (AP) is a well-described consequence of TTP but acute pancreatitis triggering TTP is still not as frequent. [N A J Med Sci. 2016;9(2):75-77. DOI: 10.7156/najms.2016.0902075
Immune Dysregulation and the Pathogenesis of Autism
Autism spectrum disorder (ASD) is a devastating disease affecting 1 in 68 children in the United States. Although much has been learned, the etiology and pathogenesis of autism remain largely elusive. More recently, mutations or variants of genes encoding proteins involved in immune regulation have been frequently found in ASD patients, implicating a key role of immune dysregulation in the pathogenesis of ASD. In support of this notion, parental, especially maternal, immune disorders are also identified to be associated with ASD. Further, altered immune responses are constantly observed in ASD patients. On the other hand, restoration of a normal immune system in ASD patients and in animal models has shown promising therapeutic effects, further linking ASD to an abnormal immune state. Here we review current literatures and discuss the potential role of immune dysregulation in driving the pathogenesis of autism. [N A J Med Sci. 2016;9(4):161-166. DOI: 10.7156/najms.2016.0904161] Key Words: immune dysregulation, pathogenesis, autis
Omega-3 and Omega-6 Fatty Acids: Role in Body Fat Gain and Development of Obesity
The ratio of ω6 to ω3 polyunsaturated fatty acid (PUFA) in western diet has remarkably increased over the past decades. This change in dietary fatty acid (FA) composition, independent of the total caloric intake and total fat intake, may contribute to the obesity epidemic in many populations. Experimental studies show that ω3 and ω6 FAs play different role in adipogenesis, lipid homeostasis, brain-gut-adipose axis signaling, and systemic inflammation, resulting in divergent effects on body fat growth. Evidence from human studies remains limited and inconclusive. Very few observational studies and clinical trials have examined the association between composition of PUFA, particularly ω6 FA and ω6/ω3 ratio, with obesity-specific parameters. A consensus on the optimal intake of ω3 and ω6 subtype FAs and ω6/ω3 ratio in diet is lacking. We reviewed the temporal change in dietary PUFA composition in US, experimental studies that examine the effects of ɷ3 and ω6 FAs on body fat, and epidemiologic studies that assess the association between dietary PUFAs and the development of obesity. Future studies need to further evaluate dietary FAs and their biomarkers in association with objective and longitudinal measurements of body fat and elucidate the potential role of diet with a balanced ω3 and ω6 FA composition in the primary prevention of obesity.
Extramammary Myofibroblastoma in the Axilla of a Male Patient: A Case Report and Literature Review
Mammary type myofibroblastoma in an extramammary location is an extremely rare benign lesion. The site involved is usually along the embryonic milk line with the inguinal/groin region as a common location. Here we report a case of such lesion in an old man who presented with a painless mass in the right axilla. Histologically the lesion was comprised of loosely distributed bland spindle cells in a pseudoangiomatous background. No cellular atypia or mitosis was identified. Immunohistochemistry showed the spindle cells were immunoreactive to CD34, ER, and Bcl-2, but negative for desmin, cytokeratin, S-100, CD99, PR, CD21, and CD23. Ki-67 proliferative index for the spindle cells are very low. A diagnosis of extramammary myofibroblastoma was rendered after multiple extramural expert consultations. The uniqueness of this case includes: 1) pseudo-angiomatous and loose stroma background with on obvious interspersed collagen bundles; 2) negative for desmin, which is usually positive for this type of tumor; and 3) positive for Bcl-2, which has never been reported. Comparison of this entity with spindle cell lipoma at genetic level and a literature review were also conducted.
Diagnosis of Concomitant Plasma Cell Myeloma and Chronic Lymphocytic Leukemia in a Single Patient: A Case Report
Plasma cell myeloma (PCM) and chronic lymphocytic leukemia (CLL) are hematologic malignancies that occur at different stages of the B-cell maturation pathway. Although both diseases are relatively common malignancies in elderly individuals, their concomitant occurrence in one patient is rare. Here we report a patient with a 9-year history of CLL who was subsequently diagnosed with coexisting PCM after she was found to have bilateral pathologic clavicular fractures. We provide immunohistological and immunophenotypic evidence for these separate and simultaneous diseases within the same patient
Critical Ligand Binding Sequences of the Esr1 Gene: What Role in the Treatment of Er(+) Breast Cancers?
The malignant cells in a majority of breast cancer patients express the estrogen receptor. This has been exploited in the clinic through the use of anti-estrogens with much success. However, a certain percentage of patients do not respond to this form of treatment. There are several possible reasons for this, but one mechanism not previously investigated is the presence of single nucleotide polymorphisms in the critical amino acids responsible for ligand binding. As a developing paradigm, variations in critical sequences of a gene may translate into altered proteins, eventually leading to therapeutic failure in the clinic. In this study we sought to determine if the frequency of genetic polymorphisms in the amino acids for estrogen receptor alpha that had previously been reported to be critical for ligand binding with hydroxy-tamoxifen warranted examination prior to the administration of this drug. The sequences corresponding to the critical amino acids were found to be wild type in this study’s cohort of treatment naïve breast cancer patients. This finding, the absence of any alterations in the critical amino acids of the estrogen receptor gene responsible for ligand binding, argue against this mechanism having any significant role in the unresponsiveness of some patients to estrogen therapy.[N A J Med Sci. 2016;9(3):88-95. DOI: 10.7156/najms.2016.0903088]
HIV-1 infection in early human placenta in vitro: Effects of Tumor Necrosis Factor (TNF-α) and Interleukins IL-1 and IL-6
The placenta plays a pivotal role in the pathogenesis for the vertical transmission of HIV-1 during pregnancy. To understand HIV-1 infection during the first trimester of pregnancy and its association with inflammatory cytokines, we developed an in vitro HIV infection model using the early human placental explant cultures (5.5-7.5 wks). Ba-L, a laboratory-adapted, chemokine receptor CCR5-using strain of HIV-l, was used to infect the explants. DNA-PCR and Southern blot results show that HIV-l is able to infect the early human placenta in a viral load-dependent manner. In situ PCR demonstrated that the majority of HIV-l-infected cells are cytotrophoblast, Hofbauer cells, and with few syncytiotrophoblast. Viral protein p24 and reverse transcriptase (RT) levels return to control levels after 24h viral exposure, indicating a latent HIV-infection in placental explant culture, though the placenta remained positive by in situ PCR. Viral protein p24 and RT increase by approximately three-fold in the culture supernatants when exogenous cytokines tumor necrosis factor-alpha (TNF-α) alone or in combination with interleukin-1-beta (IL-1β) and IL-6 were added to these virus-exposed explants. Taken together, these data support the hypothesis that the early human placenta is susceptible to HIV-l and latent vs. active HIV-l infection in human placenta may be an important factor in determining whether the baby becomes infected. [N A J Med Sci. 2016;9(4):151-160. DOI: 10.7156/najms.2016.0904151] Key Words: HIV-l, virus infection, trophoblast, in situ PCR, human placent
Autonomic Dysfunction and Autism: Subtypes and Clinical Perspectives
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by impaired social communication, restrictive interests and stereotypical repetitive behaviors. It is known that over-activation of the sympathetic branch of the autonomic nerve system (ANS) on a background of deficient parasympathetic tone is related to social, emotional and cognitive behaviors in autistic people. Different autonomic features have been linked to distinct phenotypes of autism. This review demonstrates a novel method to distinguish autism subtypes and comorbidities using autonomic indices combined with neurotransmitters and neuroimaging patterns. The clinical applications and future perspectives of autonomic indices as promising diagnostic and therapeutic biomarkers are also discussed here.[N A J Med Sci. 2016;9(4):172-180. DOI: 10.7156/najms.2016.0904172]Key Words: autism spectrum disorder, autonomic dysregulation, heart rate variability, electrodermal activity, autistic subtyp