North American Journal of Medicine and Science
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Rare Breast Granular Cell Tumor with Alpha-1 Antitrypsin Expression: A Case Report and Literature Review
Get PDFBreast granular cell tumors are rare benign tumors with clinical and radiological resemblance to mammary carcinoma. Definitive diagnosis usually needs tissue or fine needle aspiration based cellular examination. Special stains, including PAS, PASD, S-100 and CK, are very important for reaching the correct diagnosis. However, the current markers to differentiate this tumor from histiocytes, including α-1-antitrypsin, α-1-antichymotrypsin and CD68, are not very specific. Both α-1-antitrypsin and CD68 are positive in our case. A more extensive panel of histiocytic markers should be tested to evaluate their differential utility between histiocytes and GCTs, especially breast GCTs.[N A J Med Sci. 2013;6(2):103-106. DOI: 10.7156/najms.2013.0602103
Prevalence and Significance of Abnormal Tactile Responses in Young Children with Autism
Get PDFWith the inclusion of sensory abnormalities in the DSM-V criteria for autism, the multifocal touch/pain abnormalities reported in young children with autism are no longer comorbid symptoms, and it has become an urgent priority to identify their nature and significance. A recent study differentiated children with autism from typical and otherwise developmentally delayed groups on the two-fold basis of mixed allodynia and hypoesthesia, and severe global self-regulatory delay. In this study, we retrospectively analyzed case records for 266 pre-school children with autism and typical development to verify recent findings, assess the prevalence and location of tactile abnormalities in the autism group, and explore the relationship between tactile abnormalities and self-regulatory delay. Results differentiated the autism group by severity of tactile abnormality [F(1,262) = 172.8, p < .001] and self-regulatory delay [F(1,262) = 232.8, p < .001]. Allodynia was reported in 100% of the autism group by parent report and 98% by therapist report; hypoesthesia was present in 65% by parent report. Tactile abnormalities were directly, linearly related to self-regulatory delay (r = .727, p < .001) in both groups. The sense of touch has not been fully evaluated in autism, and there is insufficient quantitative evidence to conclude that it is intact. Mixed allodynia and hypoesthesia are typical signs of sensory neuropathy. Evidence of their near universal presence in young children with autism, and direct relationship to self-regulatory delay underscores the urgent need to fully evaluate the sense of touch in autism and rule out sensory neuropathy.[N A J Med Sci. 2013;6(3):121-127. DOI: 10.7156/najms.2013.0603121
A Commentary on Autism and Moral Development: What Can We Learn from the Sandy Hook School Shooting?
Get PDFThe Sandy Hook Elementary School shooting has left many people wondering whether the shooter’s diagnosis along the autism spectrum is what caused the unthinkable crime that transpired. This commentary explores moral development in both the typical and autism populations. It reviews previous studies done on the autism population regarding their understanding of right and wrong actions even when they lack theory of mind. A lack of empathy is often attributed to individuals with autism spectrum disorders, but many studies show that while they may fail to articulate another person’s point of view, they are not completely unresponsive to the distress or moral dilemmas of others. This commentary aims to dispel any misunderstanding that autism spectrum disorder equals lack of empathy, which leads to violence. It also hopes to alert the medical community treating those with autism spectrum disorders that the diagnosis of the patient may not end at autism alone. Thus other personality disorders may be present requiring intensive treatment and referral. [N A J Med Sci. 2013;6(3):163-166. DOI: 10.7156/najms.2013.0603163
Everyday Epigenetics: From Molecular Intervention to Public Health and Lifestyle Medicine
Get PDFEpigenetics, which refers to changes in which genes are turned on or off rather than to the genetic code itself, helps us understand that we have much more power over our health and well-being than we could have imagined when everything was thought to be determined by our genes. Although it is possible to design drugs to impact genetics, the path to truly proving safety and efficacy is long. Meanwhile, right now we can change our epigenetics through everyday choices such as eating high nutrient density food; avoiding junk food, allergens, toxicants and infections; getting plenty of exercise and sleep; minimizing stress; and nurturing each other better. These evolutionarily tried and true approaches have documented impacts on epigenetics. They can help us avoid disease, reduce disease severity and promote recovery. The serious chronic illnesses such as obesity, diabetes, autism and cancer can all be impacted greatly by addressing epigenetics through presently available everyday changes. Public health and economics as well as each person’s desire for the best possible life all dictate that we promote these affordable and practical everyday epigenetic interventions.We are moving from the age of genes into the era of epigenetics. This means that we are recognizing that even with the same set of genes – the same set of genetic coding – there are many different options for how things turn out, because there are many ways that influence how genetic code is expressed, spliced, or not expressed. Now more than ever we know it is not solely our genes that determine our bodies, brains and health – many other factors contribute as well.[N A J Med Sci. 2013;6(3):167-170. DOI: 10.7156/najms.2013.0603167
Progress and Perspective of Professional Training in Medical Genetics and Genomics: A Report of the Association of Chinese Geneticists in America
Get PDFMedical genetics and genomics is a newly developed clinical specialty built upon accumulated knowledge of human genetics and discoveries of thousands of genetic disorders. Since 1991, medical genetics has been recognized as one of the 24 medical specialties and the American Board of Medical Genetics (ABMG) has organized training programs and provided certifications in clinical genetics, cytogenetics, molecular genetics and biochemical genetics. To publicize and promote this specialty, a task force on professional medical genetics training has been organized by members of the Association of Chinese Geneticists in America (ACGA). This report was written by the task force to outline the principle and practice of professional medical genetics training and review the progress and impacts of medical genetics and genomics in North America. For the past twenty years, the American College of Medical Genetics and Genomics (ACMG) has built a professionally trained work force and developed many policies, guidelines and standards governing clinical services and laboratory diagnostics. Educational programs to improve the knowledge and literacy on medical genetics for other health professionals and general public have been introduced. A comparison of the economic impact between basic genomic research and diagnostic genetic service showed similar impact multipliers in creating jobs and revenues. Genetic and genomic medicine is still in a stage of early development and rapid expansion but has been the driver for transforming ‘diagnostics/counseling’ based disease treatment toward ‘predictive/preventive’ oriented health maintenance. This report is aimed to introduce professional medical genetics training to qualified physicians and graduate students and also facilitate medical genetics specialty in China through professional consultation and exchange training programs. [N A J Med Sci. 2013;6(4):173-180. DOI: 10.7156/najms.2013.0604173
Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases
Get PDFLysosomal storage diseases (LSDs) are a group of more than 50 genetic disorders. Clinical symptoms are caused by the deficiency of specific enzyme (enzymes) function and resultant substrate accumulation in the lysosomes, which leads to impaired cellular function and progressive tissue and organ dysfunction. Measurement of lysosomal enzyme activity plays an important role in the clinical diagnosis of LSDs. The major enzymatic testing methods include fluorometric assays using artificial 4-methylumbelliferyl (4-MU) substrates, spectrophotometric assays and radioactive assays with radiolabeled natural substrates. As many effective treatment options have become available, presymptomatic diagnosis and early intervention are imperative. Many methods were developed in the past decade for newborn screening (NBS) of selective LSDs in dried blood spot (DBS) specimens. Modified fluorometric assays with 4-MU substrates, MS/MS or LC-MS/MS multiplex enzyme assays, digital microfluidic fluorometric assays, and immune-quantification assays for enzyme contents have been reported in NBS of LSDs, each with its own advantages and limitations. Active technical validation studies and pilot screening studies have been conducted or are ongoing. These studies have provided insight in the efficacy of various methodologies. In this review, technical aspects of the enzyme assays used in clinical diagnosis and NBS are summarized. The important findings from pilot NBS studies are also reviewed.[N A J Med Sci. 2013;6(4):186-193. DOI: 10.7156/najms.2013.0604186
Mitochondrial DNA Copy Number Alteration in Human Cancers
No full textMitochondrial DNA (mtDNA) lacks protective histone and comprehensive DNA repair pathways. To compromise the damage, mitochondria increase their DNA copy numbers. Although the mechanism has not been completely understood, mtDNA copy number alteration has been demonstrated to affect multiple aspects of malignant cells’ behavior. Abnormalities of mtDNA content have also been observed in various human cancers. Moreover, epidemiological studies have showed that the blood mtDNA copy number alteration is associated with the risk of several cancers. The purpose of this review is to briefly introduce several characteristics of mtDNA copy number and its potential role as a diagnostic and prognostic marker for cancer risk prediction and prevention.
Juvenile Temporal Arteritis Clinically Masquerading as Temporal Artery Pseudoaneurysm
Get PDFJuvenile temporal arteritis (JTA) is a rare and controversial diagnosis. The clinical features include: age younger than 40 years old, temporal nodule with or without pain, no systemic features and no recurrences or systemic symptoms upon follow up. The histopathologic features include intimal hyperplasia, endothelial hyperplasia, disruption of the internal elastic lamina and a lymphoeosinophilic panarteritis that lacks germinal centers and granulomatous inflammation. The differential diagnosis consists of angiolymphoid hyperplasia with eosinophilia (ALHE) and Kimura disease. It is debated whether JTA is a distinct diagnosis or a subset of ALHE or Kimura disease. We report a case of an 18-year-old man with a clinical presentation of temporal artery psuedoaneurysm, but with histopathologic features of JTA. The patient has not sought further treatment 2.5 years after the original excision. [N A J Med Sci. 2013;6(2):95-99. DOI: 10.7156/najms.2013.0602095
Developing a Predictive Gene Classifier for Autism Spectrum Disorders Based upon Differential Gene Expression Profiles of Phenotypic Subgroups
Get PDFAutism spectrum disorders (ASD) are neurodevelopmental disorders which are currently diagnosed solely on the basis of abnormal stereotyped behavior as well as observable deficits in communication and social functioning. Although a variety of candidate genes have been identified on the basis of genetic analyses and up to 20% of ASD cases can be collectively associated with a genetic abnormality, no single gene or genetic variant is applicable to more than 1-2 percent of the general ASD population. In this report, we apply class prediction algorithms to gene expression profiles of lymphoblastoid cell lines (LCL) from several phenotypic subgroups of idiopathic autism defined by cluster analyses of behavioral severity scores on the Autism Diagnostic Interview-Revised diagnostic instrument for ASD. We further demonstrate that individuals from these ASD subgroups can be distinguished from nonautistic controls on the basis of limited sets of differentially expressed genes with a predicted classification accuracy of up to 94% and sensitivities and specificities of ~90% or better, based on support vector machine analyses with leave-one-out validation. Validation of a subset of the “classifier” genes by high-throughput quantitative nuclease protection assays with a new set of LCL samples derived from individuals in one of the phenotypic subgroups and from a new set of controls resulted in an overall class prediction accuracy of ~82%, with ~90% sensitivity and 75% specificity. Although additional validation with a larger cohort is needed, and effective clinical translation must include confirmation of the differentially expressed genes in primary cells from cases earlier in development, we suggest that such panels of genes, based on expression analyses of phenotypically more homogeneous subgroups of individuals with ASD, may be useful biomarkers for diagnosis of subtypes of idiopathic autism.[N A J Med Sci. 2013;6(3):107-116. DOI: 10.7156/najms.2013.0603107
Everyday Epigenetics: From Molecular Intervention to Public Health and Lifestyle Medicine
Get PDFEpigenetics, which refers to changes in which genes are turned on or off rather than to the genetic code itself, helps us understand that we have much more power over our health and well-being than we could have imagined when everything was thought to be determined by our genes. Although it is possible to design drugs to impact genetics, the path to truly proving safety and efficacy is long. Meanwhile, right now we can change our epigenetics through everyday choices such as eating high nutrient density food; avoiding junk food, allergens, toxicants and infections; getting plenty of exercise and sleep; minimizing stress; and nurturing each other better. These evolutionarily tried and true approaches have documented impacts on epigenetics. They can help us avoid disease, reduce disease severity and promote recovery. The serious chronic illnesses such as obesity, diabetes, autism and cancer can all be impacted greatly by addressing epigenetics through presently available everyday changes. Public health and economics as well as each person’s desire for the best possible life all dictate that we promote these affordable and practical everyday epigenetic interventions.We are moving from the age of genes into the era of epigenetics. This means that we are recognizing that even with the same set of genes – the same set of genetic coding – there are many different options for how things turn out, because there are many ways that influence how genetic code is expressed, spliced, or not expressed. Now more than ever we know it is not solely our genes that determine our bodies, brains and health – many other factors contribute as well.[N A J Med Sci. 2013;6(3):167-170. DOI: 10.7156/najms.2013.0603167