North American Journal of Medicine and Science
Not a member yet
440 research outputs found
Sort by
Preferred Play Activities of Children with Autism Spectrum Disorder in Naturalistic Settings
Get PDFAutism Spectrum Disorders (ASDs) are lifelong, neurobehavioral disorders that impact behavioral, social and communication skills. Introducing and designing appropriate play opportunities for children with ASD is of primary concern for educators, clinicians, and parents. The researchers set out to research the types of play most often preferred by children with autism spectrum disorders. Data collected in a children’s museum over a six month period resulted in a sample size of 1,506 observations for children with ASD. Data for the six months were aggregated for each of 20 different exhibits. Each of the top five exhibits preferred by children with ASD provided strong and distinct sensory feedback and featured cause/effect results or repetitive motions. Conversely, the five least popular exhibits for children with ASD were pretend play activities, and play activities which focused on arts/crafts. At a 95% confidence interval, eleven of the twenty exhibits showed a statistically significant difference for children with ASD than would be expected by a normal distribution. Of those eleven, six were preferred less than the expected average and five were preferred more than the expected average. Preliminary results of this research study support the researchers’ hypotheses that children with ASD prefer play activities with a strong sensory component and are far less likely to engage in activities involving pretend play. [N A J Med Sci. 2013;6(3):128-133. DOI: 10.7156/najms.2013.0603128
Recent Progress of DeSUMOylation in Biological Processes: A Mini Review
Get PDFPost-translational modifications to proteins are essential mechanisms for controlling functions of proteins and subsequently for regulating cell fate. SUMO modification (SUMOylation) has emerged as a critical regulatory pathway in cellular function and biological processes. DeSUMOylation (removal of SUMO conjugation) by members of SUMO-specific proteases (SENPs) family makes SUMO modification highly dynamic. In this mini-review, we briefly introduce the current knowledge regarding the regulatory pathway of deSUMOylation and focus on the recent progress of functions of SENPs in biological progresses
Acute Erythroid Leukemia: A Review
Get PDFAcute erythroid leukemia is a rare form of acute myeloid leukemia. It accounts for <5% of all acute myeloid leukemia cases. According to the World Health Organization 2008 classification, it falls under the category of acute myeloid leukemia, not otherwise specified and is further divided into two subtypes: erythroid leukemia (erythroid/myeloid) and pure erythroid leukemia. Currently, erythroleukemia (erythroid/myeloid) is defined as 50% or more erythroid precursors and ≥20% blasts of the non-erythroid cells. By definition, pure erythroid leukemia is composed of ≥80% erythroid precursors. Acute erythroid leukemia is a diagnosis of exclusion and difficulty. This review discusses its differential diagnoses, which present with erythroid proliferation, such as myelodysplastic syndrome with erythroid proliferation, acute myeloid leukemia with myelodysplasia related changes, therapy related acute myeloid leukemia, myeloproliferative neoplasms with erythroblast transformation, acute myeloid leukemia with recurrent genetic abnormalities and other types of hematologic neoplasms. Additionally, reactive conditions such as erythropoietin treatment, vitamin B12 and folate deficiency, toxin exposure and congenital dyserythropoiesis should be excluded. As a result, the frequency of acute erythroid leukemia diagnosis has been reduced. Important adverse prognostic factors will be summarized, including presence of complex cytogenetic karyotype as the most important one. Additional larger studies are needed to better understand acute erythroid leukemia, with a focus on diagnostic tools, its heterogeneity and cytogenetic and molecular characteristics for potential therapeutic targets
Mixed Phenotype Acute Leukemias
Get PDFMixed phenotype acute leukemia represents a small subset of acute leukemia that cannot be simply assigned as myeloid or lymphoid lineage, because of the ambiguous phenotype the leukemic cells exhibit. It encompasses leukemias containing separate populations of blasts of more than one lineage, or a single population of blasts co-expressing antigens of more than one lineage. The 2008 World Health Organization classification established strict criteria for diagnosis of mixed phenotype acute leukemia, emphasizing myeloperoxidase for myeloid lineage assignment, cytoplasmic CD3 for T lineage assignment, and CD19 and other B markers for B lineage assignment. A variety of cytogenetic lesions have been identified in this group of diseases, two of which, the t(9;22)(q34;q11) BCR-ABL1 translocation, and t(v;11q23) with MLL rearrangement are considered separate entities. Other categories include T/myeloid NOS, B/myeloid NOS and other rare types. Mixed phenotype acute leukemia is associated with poor outcome compared with other types of acute leukemias, particularly in those with Philadelphia chromosome, and clinically presents challenges in diagnosis and treatment.
Value of Testing at 30°C for the Identification of Cold Alloantibodies in the Presence of Cold Autoantibodies
Get PDFAcute hemolytic transfusion reaction due to hemolytic anti-Lea is a rare phenomenon. We present here a case report of an acute hemolytic transfusion reaction, and demonstrated that an additional procedure of incubation at 30˚C facilitated the identification of a hemolytic anti- Lea in this diagnostic challenged case. A 46 year old man with a history of AIDS and dementia presented with symptomatic anemia. During transfusion of the 2nd unit of packed RBCs, the patient experienced high fever, back pain and dark brown urine. The blood bank and laboratory workup revealed evidence of a quickly resolved acute intravascular hemolysis. Other causes of intravascular hemolysis were ruled out with various laboratory tests. Initial blood bank antibody workup revealed a cold auto-anti-I, and a cold allo-antibody of undetermined specificity. Tests at 30˚C were described by Lawrance Petz and George Garratty for workup of cold auto-antibodies at 30˚C. We extrapolated their method to clearly identify a hemolytic anti-Lea with broad thermal amplitude. Phenotyping and crossmatching at 30˚C revealed that the 1st unit was implicated in the acute hemolytic transfusion reaction. This is the first report to successfully identify a hemolytic anti-Lea using the method at 30˚C for cold allo-antibody workup.
Expression of PAX2 and Renal Cell Carcinoma Antigen in Mucoepidermoid Carcinoma
Get PDFClear cell renal cell carcinoma (CCRCC) is the most common metastatic clear cell tumor in the head and neck. The most common primary tumor of the head and neck with clear cell morphology is mucoepidermoid carcinoma (MEC). The distinction between MEC with clear cells (CMEC) and metastatic CCRCC can be challenging in a small biopsy specimen. Expression of PAX2 and renal cell carcinoma antigen (RCCma) has been widely used to aid of diagnosis for both primary and metastatic RCC. The aim of this study is to evaluate the utility of expression of PAX2 and RCCma between CMEC and metastatic CCRCC in a clinical setting using tissue microarrays (TMAs). In primary CCRCC, the nuclear immunoreactivity for PAX2 was found in 47 of 120 cases (39%), and the membranous staining pattern for RCCma was revealed in 69 of 120 cases (58%). The immunostain profiles of metastatic RCC showed positive staining for PAX2 in 21 of 94 cases (22%) and RCCma in 19 cases (20%), respectively. Two of six cases (33%) of metastatic RCC to the head and neck region display immunoreactivity for either PAX2 or RCCma. For MEC, positive membranous and cytoplasmic staining of RCCma was found in 3 of 23 cases (13%), and diffuse cytoplasmic reactivity for PAX2 was noted in 19 cases (83%). However, none of MEC showed nuclear reactivity that is specific for PAX2. Results of our study suggest that although PAX2 and RCCma are relatively specific for CCRCC, one should be cautious when interpreting the results of RCCma and PAX2 expression in the setting of CMEC versus metastatic CCRCC, particularly in a biopsy specimen. Clinicopathologic correlation combined with histomorphology and a panel of immunohistochemical markers is essential to render correct diagnosis.[N A J Med Sci. 2012;5(4):203-207.
t(1;3)(p36;p21) as the Sole Clonal Abnormality in Refractory Acute Myeloid Leukemia
Get PDFAcute myeloid leukemia (AML) is a heterogeneous group of diseases with a multitude of molecular genetic aberrations and variable clinical outcome. Clonal chromosomal abnormalities have been identified in over 50% of AML cases, and have been regarded as one of the most important prognostic markers. We present a case of a 56-year-old Hispanic man with AML with minimal differentiation. Morphologically, the bone marrow was hypercellular with trilineage hypoplasia and 80% blasts. Flow cytometry analysis showed that the blasts were of myeloid immunophenotype. Conventional cytogenetic analysis showed t(1;3)(p36;p21) as the sole cytogenetic abnormality in 5 of 20 metaphases analyzed. The patient received daunorubicin and cytarabine, and achieved first remission. He relapsed 4 months later, and was treated with fludarabine, cytarabine, idarubicin, and G-CSF, and consolidated with high-dose cytarabine. He then received matched related stem cell transplantation. However, the disease relapsed again, and the patient died 11 months after initial diagnosis. To our best knowledge, this is the first report of t(1;3)(p36;p21) as the sole cytogenetic abnormality.
Molecular Diagnostics in Adult Acute Myeloid Leukemia
Get PDFAcute myeloid leukemia (AML) is a clinically and pathogenetically heterogeneous group of hematopoietic malignancies. Diagnosis, treatment choices and prognosis of AML have evolved from depending on evaluation of morphological and cytochemical features to relying heavily on cytogenetic profiling of leukemic cells by chromosome karyotyping and fluorescence in situ hybridization (FISH). However, given that at least 40% of all adult patients with AML lack identifiable cytogenetical abnormalities, there is a strong interest clinically in refining risk assessment as well as defining possible new targets for treatment. We review here some of the well studied molecular markers employed in the stratification of AML with normal cytogenetics, including the Fms-Like Tyrosine Kinase 3 (FLT3), nucleophosmin-1 (NPM1) and CCAAT/enhancer binding protein-α (CEBPA) genes. We discuss other factors of potential interest, but less well characterized in the context of AML, including miRNA expression signatures. Technical aspects of molecular testing are also discussed
Review of Myofibroblastoma of Breast and Its Most Common Mimickers
Get PDFMyofibroblastoma (MFB) is characterized as a benign stromal neoplasm composed of uniform, bland-looking spindle cells that are often arranged in fascicles separated by thick band of collagenous stroma. Variable cellularity is common. Immunohistochemically, the spindle cells are positive for CD34, vimentin, BCL-2, ER, PR, focally positive for smooth muscle actin and negative for cytokeratin, S-100 and CD117. Although classic MFB is typically a bland-looking spindle cell tumor, some unusual morphologic variants may show worrisome malignant-looking cells. Recognition of MFB variants and its wide variety of mimickers is very important for pathologists to arrive at the correct diagnosis, and avoid misdiagnosis of malignancy
Recent Advances in Follicular Variant of Papillary Thyroid Carcinoma
Get PDFThe follicular variant of papillary thyroid carcinoma (FVPTC) constitutes a distinct class of papillary thyroid carcinoma (PTC), presenting unique challenges to the clinician and pathologist regarding its diagnosis, prognosis and treatment. Fifty years since its identification as a unique class of thyroid neoplasms, controversies still exist with respect to the histologic diagnosis and categorization of FVPTC. While agreement exists among experts as to its generic place within PTC, FVPTC exhibits biologic and molecular properties that distinguish it from conventional PTC. Many studies and proposals utilizing histopathologic criteria, immunohistochemical and molecular techniques have been brought to bear on the problems posed by these set of tumors with varying degrees of success. Here we examine the clinical and pathologic features of FVPTC, highlighting diagnostic controversies and recent molecular findings that attempt to provide clues to the proper classification of this unique group of thyroid tumors.[N A J Med Sci. 2012;5(4):212-216.