North American Journal of Medicine and Science
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    Knowledge of Autism Spectrum Disorders in Potential First-Contact Professionals

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    This paper aims to report the professional perspectives on characteristics and diagnostic criteria of Autism Spectrum Disorders (ASDs) in individuals who would have a high probability of having first contact and knowledge of autism spectrum disorders.  Areas surveyed help to gauge professional knowledge of treatments and services in the community as well as identify needs for additional training.  An anonymous, on-line survey was distributed via email to various hospital-based, community medical and therapeutic practitioners as well as educators, related service providers, and administrators.  It was found that while there is solid understanding of the increased prevalence of ASDs, the knowledge of specific diagnostic criteria under the relatively new DSM-V criteria as well as active screening is somewhat lacking among professionals surveyed

    Recurrent Gastric Trichobezoars - A Case Report and Literature Review

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    A trichobezoar is a hairball usually confined to the stomach of almost exclusively young females, and typically results from the patient pulling out her hair (trichotillomania) and swallowing it (trichophagia). We describe a case of recurrent gastric trichobezoars in a young female with trichophagia who presented at the ages of 18, 21, and 25 years old with similar complaints of epigastric discomfort, early satiety, loss of appetite, intermittent nausea, and very foul smelling burps. At each presentation, endoscopy revealed a gastric trichobezoar and endoscopic fragmentation efforts were unsuccessful. The first two trichobezoars were removed via laparoscopic gastrotomy. The most recent and largest of the three trichobezoars required laparotomy secondary to dense adhesions. The patient and her parents persistently refused psychiatric consultation and outpatient follow-up which is an integral aspect of preventing trichobezoar recurrence.

    Comorbidity of Autism Spectrum and Obsessive-Compulsive Disorders

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    In this paper, we review aspects of the comorbidity between autism spectrum disorder (ASD) and obsessive compulsive disorder (OCD) in a representative manner. We consider issues of co-morbidity more generally, and then review the rates of OCD and ASD separately, before considering them together. We then consider aspects of the function significance of the interaction of the two conditions, and call for additional research into this important overlap of symptoms.

    Sclerodermatous Graft-Versus-Host Disease-Related Angiomatosis

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    Chronic graft-versus-host disease (cGVHD) is a relatively common complication of allogenic hematopoietic stem cell transplantation, although the exact incidence is unknown.  The disease most commonly affects the skin, liver, and gastrointestinal tract, but any organ may be involved.  Cutaneous manifestations are varied and rarely include vascular eruptions now characterized by the term “graft-versus-host disease associated angiomatosis” (GVHD-AA).  We present a 70 year-old male with bleeding violaceous plaques and papules in the setting of sclerodermatous cGVHD.  Biopsy of these lesions revealed angiomas with focal organizing thrombosis in a background of marked dermal sclerosis. Ulceration and progression of lesions continued despite treatment with local excision, prednisone, extracorporeal photopheresis, and hydroxychloroquine.  GVHD-AA likely represents reactive vascular proliferation in areas of dermal sclerosis.1  We report this case to raise awareness of GVHD-AA as a potential diagnosis in patients who present with vascular eruptions in the setting of cGVHD, and to encourage research into the etiology and potential treatment of reactive angiomatosis

    Clinical Implementation of Precision Medicine: Current Challenges and Future Perspectives

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    Precision medicine has attracted tremendous global attentions in the past few years. A great deal of strikingly successful cases using targeted therapies for cancers and other critical human diseases have been reported and proved the effectiveness of genome-based personalized treatments. The emerging technologies of next generation sequencing (NGS) enable us to decode genetic alterations in a high throughput mode and detect all potential pathogenic mutations simultaneously.  Although precision treatments have shown promising perspectives, adoption of precision medicine in clinical settings remains far from satisfactory, especially in the underdeveloped regions. The major challenges include: 1) yet to be standardized genetic tests; 2) Delayed targeted drug development; 3) high cost of targeted drugs; 4) slow acceptance by clinicians.  In this review, we will discuss these main obstacles for advancing the precision medicine, and provide insights on how global efforts may need to work out a strategic plan to accelerate the precision medicine and improve the quality of human health.[N A J Med Sci. 2016;9(3):123-126.   DOI:  10.7156/najms.2016.0903123

    Creating a Successful Primary Care Model: Lessons Learned From the Cuban Health System

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    With the U.S. economic embargo lifted from Cuba, the time has come to learn from the successes of the Cuban health system. This study suggests an alternative model of health care delivery that has been successful both in addressing the population’s health needs and in reducing health expenditures. Drawing on interviews conducted with Cuban health professionals, this study illustrates that non-neoliberal policies such as dominant public sector and strong social support enhance health outcomes in the population. Additionally, population-wide education and empowerment increase adherence to preventive care, which translates to lower health care costs. Cuban primary care practices are described and key lessons for the U.S. health system are offered.

    Hepatitis B Virus (HBV) Reactivation Following Immunosuppression in HBsAg(+) Carriers

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    HBV reactivation occurs in HBsAg(+) carriers who have undergone immunosuppressive therapy such as Rituximab treatment, chemotherapy or corticosteroids for malignancy or other diseases that require immunosuppression. Immunosuppression induces rapid HBV replication and increasingly infects hepatocytes. Reactivation usually occurs after discontinuation or withdrawal of immunosuppression when the immune system is reconstituted and attacks infected hepatocytes. This leads to acute hepatitis characterized by increased levels of alanineaminotransferase (ALT) and serum HBV DNA. Rarely it can be life threatening.

    Chronic Lymphocytic Leukemia Transdifferentiates into Neuroendocrine Carcinoma: A Case Report of a New Phenomenon

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    Richter’s Transformation of chronic lymphocytic leukemia (CLL) to diffuse large B-cell lymphoma or Hodgkin lymphoma (both are B-cell origin) are well described in literature. Recently, transformation of CLL into histiocytic/dendritic/Langerhans cell sarcoma (all are myeloid origin), dubbed as “transdifferentiation”, has also been reported. The mechanisms behind this phenomenon are not clear. Here we report the discovery of the first case of CLL evolving into a neuroendocrine carcinoma (NEC). A patient with long history of CLL developed a rectal mass and a liver mass. Biopsies confirmed rectal poorly differentiated NEC compositing with CLL, and liver metastatic NEC. FISH for CLL panel revealed trisomy 12 in both CLL and NEC.  B-cell heavy chain rearrangement study on blood sample (pure CLL) and liver metastatic NEC (pure NEC, no contamination from CLL) revealed that these two tumors shared similar monoclonal peaks. Therefore, the patient’s CLL and NEC were clonally related, and likely the NEC was transdifferentiated from CLL. This is the first case of transdifferentiation of CLL into carcinoma. [N A J Med Sci. 2016;9(3):123-126.   DOI:  10.7156/najms.2016.0903123

    Role of Non-Selective Beta Blockers in Hepatocellular Carcinoma: An Analysis in Patients with Cirrhosis and Portal Hypertension

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    There are many different biochemical processes responsible for the hepatocelluar carcinoma (HCC) development that can be targeted for the prevention or halt progression of the HCC. Non-selective beta-blockers (NSBB) affects a multitude of intracellular biochemical and signaling pathways involved in carcinogenesis. Aim: To determine if NSBB may be protective for HCC in patients with cirrhosis and portal hypertension. Methods: We retrospectively enrolled 200 patients from medical records diagnosed with cirrhosis and portal hypertension between January 2001 and December 2013. Eighteen patients were excluded (taking selective beta-blocker and/or unavailable medical records). The etiology of cirrhosis, use of NSBB, demographics and the presence of HCC was collected. Result: There were 140 males and 42 females. The mean age for portal hypertension with cirrhosis without HCC was 53.5 ± 11.4 & with HCC was 62.2 ± 9.5 years. Univariate analysis of the association of NSBB with HCC yielded OR = 0. 11 (95% CI: 0.04 to 0.25); p < 0.0001, suggesting a protective effect of NSBB.  Multivariable analysis suggests virtually no change when the Odds ratio (OR) was adjusted for diabetes mellitus (DM), alcohol use, Hepatitis B virus (HBV) status, Black race and age ≥ 53. There was a slight increase in the OR adjusted for statin use. Conclusion: This study highlights association of NSBB use in the patients with liver cirrhosis and portal hypertension for prevention of HCC

    Test-Retest Reliability and Validity of the Autism Symptoms Questionnaire

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    Although many instruments can measure symptoms in Autism Spectrum Disorder (ASD), only a few are directly based on the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition, Text Revision (DSM-IV-TR) criterion. One of these tools called the Autism Symptoms Questionnaire (ASQ) is directly based on the DSM-IV-TR criteria for ASD and has been used in several clinical studies. However, its basic psychometric characteristics such as reliability and validity have not been studied. In this study we analyze the data from 165 individuals that were seen in an autism multispecialty clinic whose caretakers completed the ASQ at least twice. In addition, concurrent to completing the ASQ, most caretakers also completed two other commonly used validated questionnaires used in autism research: the Social Responsiveness Scale (SRS) and the Aberrant Behavior Checklist (ABC). The data was analyzed using a mixed-model to control for within-subject variation and time between assessments. First, we found excellent test-retest reliability for the ASQ with statistically significant r values for the mixed-model. Reliabilities of 0.93, 0.94, 0.91 and 0.99 were found for the social, communication and stereotyped behavior subscales and total score, respectively. The Minimal Clinically Important Difference (MCID) was calculated as 0.11, 0.09, 0.12 and 0.04 points for the social, communication and stereotyped behavior subscales and total score, respectively. The r values for the mixed-model associating the ASQ with the SRS and ABC varied between subscales but were moderate to good in magnitude and statistically significant, demonstrating that the ASQ measures a valid psychometric construct. Overall, this study suggests that the ASQ has acceptable reliability. The ASQ’s close correspondence to the DSM criteria is a strength of this instrument. With further research, it may be possible to develop a similar tool based on the DSM-V criteria. It appears that a Minimal Clinically Important Difference is approximately 0.1 point on any subscale, providing validation that changes on the ASQ can be considered important.

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