North American Journal of Medicine and Science
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Isolated Acrania in the Presence of Amniotic Band Syndrome
Get PDFAcrania is an extremely rare congenital developmental anomaly. It is often confused with another disease entity, anencephaly. Even though these two developmental defects often occur simultaneously, they are believed to have different pathogenic mechanisms. We report the case of a 22-year-old woman with an unremarkable first trimester pregnancy who delivered a demised male fetus at 16 weeks gestation. External and microscopic examination of the fetus revealed normal development in all internal organs. The brain was covered by leptomeninges only, with an absence of skull and overlying skin. Additionally, both the fetus and placenta showed evidence of amniotic band syndrome. A diagnosis of isolated acrania in the presence of amniotic band syndrome was made. The exact etiology of acrania is not well understood. Two popular theories suggest that amniotic bands or a migration failure of the ectodermal mesenchyme may play a role in the pathogenesis. We believe that isolated acrania may represent a group of developmental anomalies which share a common ultimate outcome: absence of the neurocranium with relatively minor effects on brain development. [N A J Med Sci. 2017;10(3):100-102. DOI: 10.7156/najms.2017.1003100
Composite Mantle Cell Lymphoma and Chronic Lymphocytic Leukemia/Small Cell Lymphoma with 17p Deletion: A Case Study
Get PDFHere we describe a case of a composite mantle cell lymphoma (MCL) and chronic lymphocytic leukemia/small cell lymphocytic lymphoma (CLL/SLL) with 17p deletion in the MCL. The patient presented with 3 years of progressive lymphocytosis. Cervical lymph node biopsy showed morphologic features of nodular MCL and internodular CLL/SLL, two populations of CD5+ cells by flow cytometry, a t(11;14) translocation with a deletion in chromosome 11 by FISH, and biclonal IGH gene rearrangement. In the peripheral blood, flow cytometry showed a single population of CD5+ cells; FISH showed a t(11;14) translocation. Peripheral blood IGH gene rearrangement confirmed a single B cell monoclonal population identical to one of the two lymph node clones. Peripheral blood karyotyping detected 17p deletion, attributed to the MCL, the sole B cell clonal population in the peripheral blood. The diagnosis was concurrent MCL and CLL/SLL in the lymph node with peripheral MCL harboring a 17p deletion.[N A J Med Sci. 2017;10(1):13-19. DOI: 10.7156/najms.2017.1001013
Screening Genetic Alterations of Biomarkers BRAF, ROS-1, and HER2 by Immunohistochemistry in Ovarian Carcinomas for Targeted Therapy
Get PDFOvarian neoplasms are group of aggressive and lethal diseases. Surgical and radiochemical therapies on ovarian neoplasm are conventional approaches but with limited progress in years. Targeted therapy with drugs targeting specific genetic alterations and/or protein molecules have brought new hope fighting against ovarian neoplasms. Targeted therapy on genetic alterations of BRAF, ROS-1 and HER2 have been carried out in melanoma, lung cancer and breast cancer with promising results. However, knowledge of these genetic alterations in ovarian neoplasms is limited and deserves further exploration. In this study, we screened genetic alterations of BRAF, ROS-1 and HER2 by immunohistochemistry (IHC) on a variety of ovarian neoplasm, including 13 mucinous carcinomas, 12 clear cell carcinomas, 9 endometrioid carcinomas, 9 serous borderline tumors and 10 high grade serous tumor of fallopian tube. Although ROS-1 and HER2 abnormalities were not identified, BRAF V600E mutations were identified in 2 of 9 (22%) in borderline serous tumors. This finding has provided a knowledge base to further study the possibility of targeted therapy using BRAF inhibitor, such as vemurafeni, on borderline serous tumor of the ovary. [N A J Med Sci. 2017;10(2):53-55. DOI: 10.7156/najms.2017.1002053
Concomitant 1q42.13-q44 Duplication and 14q32.33 Deletion: A Case Report and Review of Literature
Get PDFDuplications of 1q concomitant with other chromosomal deletions are rare conditions in association with compound phenotypes. We present a case with a duplication of 1q42.13-q44 and a deletion at 14q32.33 and perform a comprehensive review on relevant cases of simple or concomitant duplications involving distal 1q42-qter region. The patient was a 1-year-old boy with delayed mental development, relative macrocephaly, brain and facial deformities, hypotonia, and minor dilation of ascending aorta. Cytogenomic analyses revealed a derivative chromosome 14 with a 21.4 Mb duplication of 1q42.13-q44 and a 2.8 Mb deletion at 14q32.33. This derivative chromosome was inherited from his mother who is a carrier of a balanced translocation between 1q42.13 and 14q32.33. This patient presents compound phenotypes from the distal 1q42 duplication and 14q32.3 terminal deletion. Review of reported cases with duplications of 1q42-qter revealed that approximately 22% were de novo cases and 78% were familial cases from a maternal or a paternal carrier of a balanced translocation. Pedigrees from familial carriers of a balanced translocation involving 1q42 showed an increased risk up to 35% for spontaneous abortion. Thorough clinical assessment of compound phenotypes and follow up study on both parents are recommended for cases with concomitant 1q42-qter duplication and other chromosomal deletions.[N A J Med Sci. 2017;10(2):56-60. DOI: 10.7156/najms.2017.1002056
Metabolomics in Alcoholic Liver Disease
Get PDFAlcoholic liver disease (ALD) is a major cause of morbidity and mortality worldwide among the people with alcohol abuse worldwide. Diagnosis of ALD might be clinically challenging as there is no reliable diagnostic “biomarker” that predict and confirm patients at the risk of ALD. As a new promising “omics” in systems biology, metabolomics provides a useful tool for discovering novel molecular signature and understanding biochemical pathways to improve disease diagnosis, prognosis and therapy. Thus, the aim of the present review is to summarize the metabolic biomarkers and metabolic pathways associated with ALD described in recent metabolomic studies.[N A J Med Sci. 2017;10(3):119-123. DOI: 10.7156/najms.2017.1003119]
A Survey of Epidemiological Studies and Risk Factors of ASD, with a Focus on China
Get PDFAutism spectrum disorder (ASD) is a group of pervasive developmental disorders which usually first appear in childhood. ASD was considered rare in the past, however, it has become a relatively common disease with a dramatic increase of prevalence recently. For years, epidemiological studies for ASD were carried out in many countries and relevant methodologies for investigation have become comparably mature. By the contrary, only a few epidemiological studies for ASD have been completed in China, involving only a small portion of China’s vast population. So far, many explanations for the increased prevalence have been proposed, and yet these studies are almost exclusively conducted in the western world. Research suggests that some environmental risk factors, which may interact with susceptible genes, are likely to play a role in the etiology of ASD. ASD exerts great burden on affected families and the society. Therefore, it’s vital to better define ASD prevalence and understand its risk factors in different regions of the world, in order to help prevent, diagnose and treat this group of diseases.[N A J Med Sci. 2017;10(3):124-132. DOI: 10.7156/najms.2017.1003124
Genotyping Technologies and Applications in the Era of Precision Medicine
Get PDFOver the past decade, genotyping technologies have revolutionized the genomic research field by providing cost-effective genotyping of tens of thousands to millions of genetic markers at population scale. That became the driving force behind genome-wide association studies. The price of a genotyping chip with ~1 million variants is now less than 1,000; and as third-generation sequencing technologies continue to mature, is there still a bright future for genotyping? In this review, we introduce some basic technological points and outline the current status of genotyping technologies; we then discuss the challenges and opportunities for genotyping in the current state and future of precision medicine.[N A J Med Sci. 2017;10(4):176-180. DOI: 10.7156/najms.2017.1004176
Effectiveness of Cognitive Behavioral Therapy with Asian American Patients in an Acute Psychiatric Partial Hospital Program
Get PDFPrevious studies have suggested that Cognitive-Behavioral Therapy (CBT) would be a compatible treatment for Asian mental health patients; however, there is a dearth of empirical research on the use of CBT in clinical treatment. This is the first study that examined the effectiveness of CBT on the psychiatric symptom severity of depression, anxiety, psychological well-being, and quality of life for Asian American patients in naturalistic settings. Fourteen males and 29 females, ages 18 to 40, received intensive CBT treatment in an acute psychiatric partial hospital. The Behavior and Symptom Identification Scale-24 (BASIS-24) was used to assess functioning level, the Center for the Epidemiological Studies of Depression- 10 (CESD-10) was used to measure depression, the Penn State Worry Questionnaire-Abbreviated (PSWQ- A) was used to measure anxiety level, and the Schwartz Outcome Scale (SOS) was used to assess overall psychological health at pre- and post-test. Repeated measure t-tests were performed to examine change in symptom severity and overall psychological health from pre to post-CBT treatment. Results revealed significant decreases in levels of depression and anxiety symptom and increases in psychological well-being and overall functioning level after treatment (all ps < .001). Thus, the findings provided support for the effectiveness of CBT as a treatment for Asian American patients within an acute psychiatric partial hospital.
Screening for Microsatellite Instability in Colorectal Cancer and Lynch Syndrome - A Mini Review
Get PDFColorectal cancers with high frequency microsatellite instability (MSI-H) account for 15-20% of all colorectal cancers (CRC). The familial form of MSI-H CRC is Lynch syndrome, caused by germline mutation in mismatch repair (MMR) genes, accounting for 3-5% of all CRC. Universal screening in newly diagnosed colorectal cancers is recommended by many experts. MSI status is a marker of prognosis and a predictive factor of response to chemotherapy and immunotherapy. MSI DNA testing and immunohistochemical study for MMR proteins are commonly used screening tools, both with high sensitivity and specificity. IHC is an easily accessible and cost effective approach with the advantage over MSI testing of being able to pinpoint the mutated gene. It is widely used as an initial primary test for detection of MSI-H tumors
Heterozygous Deletion of Macro Domain Containing 2 (MACROD2) is Associated with Autism Spectrum Disorder
Get PDFAutism Spectrum Disorder (ASD) is associated with genetic abnormalities in many cases, including common genetic syndromes, copy number variations, and rare genetic mutations. Studies have associated the 20p12.1 region and the Macro Domain Containing 2 (MACROD2) gene with ASD but this region or gene has not been specifically reported in an ASD case. In this case report we describe a non-syndromic boy with mild-to-moderate ASD who was found to have a deletion in the 20p12.1 region affecting only the MACROD2 gene. Other causes of ASD, including neurologic, metabolic and nutritional disorders, could not be identified. Given that this gene has been shown to be expressed in the ventricular zone of the brain during embryonic development, is associated with several neurologic and psychiatric disorders and has several associations with ASD, it may be an excellent candidate gene for non-syndromic ASD.