North American Journal of Medicine and Science
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Self-Management for Autism Spectrum Disorders: A Review
Autism Spectrum Disorders (ASDs) could cause severe and pervasive impairment in thinking, feeling, language, and social functioning. Self-management has the potential to empower autistic individuals by teaching them skills that will improve their independent functioning and quality of life. We described six studies which utilized different tactics for self-management for children with ASDs, and summarized the findings from these studies.
Techniques, Safety, and Therapeutic Effect of Percutaneous Cryoablation for Patients with Hepatocellular Carcinoma
Hepatocellular carcinoma (HCC) is the third most common cause of cancer-related deaths worldwide and the second most common cause in China. The rate of resection of HCC is limited to 20-30%. Therefore, various local ablative therapies such as radiofrequency ablation (RFA), percutaneous cryoablation (PC), microwave, and percutaneous ethanol injection therapy, which play an important role in the treatment of HCC, have been developed [1]. Recently, PC, a local ablative therapy, has been developed with several advantages (such as ability to produce larger and more precise zones of ablation) over RFA and other thermal ablation treatments. This review mainly focuses on the indications, techniques, patient management, safety, and efficacy associated with PC for patients with HCC.[N A J Med Sci. 2016;9(2):66-70. DOI: 10.7156/najms.2016.0902066
Malignant Mesothelioma of the Spermatic Cord – A Rare and Aggressive Entity
Malignant mesothelioma is an uncommon, aggressive neoplasm that develops from cells of the mesothelium, the protective lining that covers many internal organs in the body. As of 2013, only 10 spermatic cord cases were reported in the English literature. Here we report a recent case of this exceptionally rare entity. A 66-year-old man presented with a 3-month history of an enlarging mass in the left inguinal area, and associated pain with straining and physical exertion. Radiologic studies revealed an oval mass in the left inguinal canal, as well as a left inguinal hernia. After surgical resection, the mass was found to be 9 × 5 × 5-cm, firm, fusiform, pink-tan, and surrounded by an ill-defined tan capsule. Sectioning revealed tan cut surfaces with variegated pale yellow and hemorrhagic regions. Microscopic sections showed a partially necrotic, high-grade malignant neoplasm, which infiltrated fat, muscle, and perineural spaces. It abutted the vas deferens but did not invade. The neoplasm had a biphasic appearance and was composed of spindled and epithelioid cells. Mitotic figures were abundant. Immunostaining showed expression of calretinin and positivity for multikeratins in the epithelioid areas, confirming the diagnosis of spermatic cord malignant mesothelioma. These tumors are usually diagnosed at advanced stages and have a poor prognosis. Radical excision is the primary therapy in localized disease cases. Spermatic cord MMs show recurrence rates of up to 57% within 2 years. The most important prognostic indicator is the age of the patient.[N A J Med Sci. 2016;9(2):71-74. DOI: 10.7156/najms.2016.0902071
Perioperative Stress Response and Six-Meridian Syndrome Differentiation
This paper described the occurrence, development and pathophysiological changes of the stress response perioperative in detail, and compared with traditional and modern medicine on cognition of the Six- Meridian Syndrome Differentiation theory base on the theory of Zang-Fu organs, meridians, function of gasification, diseases transfer from outside to inside, from shallow to deep, and interconnection, interaction, mutual causes and results to each other of the zang-fu organs and function, we investigate happen, development, ending of the stress response perioperative in consistency with the Six-Meridian Syndrome Differentiation theory, provide inspiration and thinking method, an integrated traditional Chinese and Western medicine way, which is suitable, effective, symptom and root curable, to regulate the stress response perioperative.
A Case of Recurrent Benign Episodic Unilateral Mydriasis and Decreased Visual Acuity and Review of the Literature
Unilateral mydriasis has a variety of causes, some of which are life-threatening. Migraine with benign episodic unilateral mydriasis is a nonsurgical cause of anisocoria, with unknown underlying pathophysiology. This disorder is thought to be caused by an Adie’s pupil triggered by migraine due to overactivation of the sympathetic nervous system or hypoactivity of the parasympathetic nervous system. We present the case of a 47-year-old patient who had recurrent benign episodic unilateral mydriasis associated with migraine headaches. Other vascular causes of mydriasis were investigated and excluded. Ultimately, the patient’s symptoms of blurred vision and pupillary dilation resolved over the 2 weeks after onset. We reviewed all 50 cases of benign episodic unilateral mydriasis reported in the literature and summarized common presentations of this disorder. The case presented here is typical in its progression and associated symptom of blurred vision, which is reported in 56% of cases in the literature.
An Unusual Presentation of Low Grade Central Osteosarcoma in the Distal Femur of a Sixty-eight Year Old Male Mimicking Fibrocartilaginous Mesenchymoma
Low grade central osteosarcoma is a rare intramedullary bone tumor that presents a diagnostic challenge due to its radiographic and histologic overlap with other low grade intraosseous lesions. Here we report a case of a 68 year old male presenting with local pain in the right distal thigh. An MRI study showed a 4.8 cm lesion in the metadiaphysis of the distal femur with extension into the cortex and aggressive periosteal reaction. Multiple biopsies were performed in an attempt to reach a conclusive diagnosis: 1) A CT guided FNA and biopsy revealed a low nuclear grade spindle cell neoplasm with new bone formation; 2) Subsequent core biopsy showed bland cartilage with no atypical features and reactive new bone formation; 3) An excisional biopsy was reported as a matrix (hyaline cartilage and bone) producing neoplasm showing features most consistent with fibrocartilaginous mesenchymoma. Due to uncertain malignant potential, the patient underwent complete resection of the distal femur with the final diagnosis of low grade central osteosarcoma. Molecular studies performed showed lack of CPM amplification. This case report illustrates the diagnostic challenge of an atypical case of low grade central osteosarcoma. It required multiple procedures, molecular studies, and correlating the histology to the radiology and clinical picture to arrive at the correct diagnosis.[N A J Med Sci. 2016;9(2):78-82. DOI: 10.7156/najms.2016.0902078
Challenges in Diagnosis of Primary Classical Hodgkin Lymphoma of Parotid Gland by Fine Needle Aspiration: A Rare Case Report and Review of the Literature
Primary Hodgkin lymphoma (HL) arising in the parotid gland is extremely rare and only accounts for 4% of primary lymphomas of the salivary glands. The nodular lymphocyte predominance HL (NLPHL) is the most common subtype. Fine needle aspiration (FNA) has a great potential in diagnosis of non-Hodgking lymphomas (NHL), especially in combination with flow cytometry. However, it is challenging to diagnose HL by FNA due to obscuring reactive inflammatory cells and scant cellularity associated with fibrosis. Primary HL of the parotid has a good prognosis following treatment with chemotherapy and radiation. Here we report a rare case of primary classical HL (CHL), nodular sclerosis type, arising in the parotid of a 73-year old male who presented with a painless parotid mass and no lymphadenopathy at other sites. In this case, the diagnosis was made on the surgical specimen following parotidectomy. The FNA of the parotid mass prior to the surgery was misinterpreted as carcinoma mainly due to the scant cellularity, Reed-Sternberg (R-S) cells mimicking poorly differentiated carcinoma cells, and the extremely low occurrence of HL in the parotid. The patient underwent chemotherapy and radiation after parotidectomy and has been doing well. In conclusion, primary HL of the parotid is extremely rare, and it is very challenging to make a definitive diagnose of HL by FNA. Despite the difficulties in diagnosis, primary parotid HL has a good prognosis compared to other parotid malignancy. It is important for pathologists and surgeons to be aware of this extremely rare entity.[N A J Med Sci. 2016;9(2):83-87. DOI: 10.7156/najms.2016.0902083
False-Negative Interpretation of Breast Sentinel Lymph Node Touch Preps: Analysis of the Causes with Suggestions to Improve Diagnostic Accuracy
Sentinel lymph node (SLN) biopsy has become widely accepted as an important procedure in staging breast cancer. False-negative results of touch prep (TP) examination at time of SLN biopsy requires additional surgery, delaying treatment and increasing cost. Therefore, we have analyzed our experience with false-negative interpretation on SLN TP’s. Eight-hundred and three consecutive SLN biopsies from 2003 to 2005 were obtained from the pathology archive of Roswell Park Cancer Institute. The intraoperative consultation results were correlated with the final diagnoses. Twenty-five SLN intraoperative consultations had false-negative TP’s [false-negative rate = 3.1% (25/803), including 9 metastatic lobular carcinomas and 16 metastatic ductal carcinomas]. These cases were re-evaluated by 3 pathologists independently, and the metastases in the SLN sections were confirmed by positive cytokeratin staining. Size of the metastatic focus, nuclear grade and the adequacy of TP’s were analyzed with regard to the cause of false-negative results. On re-screening of TP’s, we found that rare tumor cells of low nuclear grade were identified on 28% (7/25) of the TP’s (3 metastatic lobular carcinomas and 4 metastatic ductal carcinomas). In the remaining 72% (18/25) of TP’s, re-screening revealed no evidence of tumor. Evaluation of these TP’s demonstrated that 50% (9/18) were unsatisfactory for evaluation or limited by scant cellularity. While cases that remained negative on re-screening tended to have smaller measured foci of tumor in the SLN (Average 0.65 mm vs. 0.94 mm from cases that were positive on re-screening), there was considerable overlap between these two groups. In conclusion, TP’s with scant cellularity, unsatisfactory TP’s and failure to identify tumor cells with low nuclear grade were found to significantly contribute to false-negative interpretations. We suggest that an additional TP or frozen section may be necessary if the cellularity of the initial TP is limited. Correlation with the original core biopsy may be of value to help in identifying cancer cells of low nuclear grade.
Empowering Immigrant Patients with Disabilities: Advocating and Self-Advocating
This article explores how to improve health care for immigrant patients with disabilities from an empowerment framework that encompasses both advocacy and self-advocacy. Immigrants with disabilities face multiple challenges in adapting to life in a new country. In addition to obstacles related to their disabilities, they must overcome cultural and linguistic barriers, acculturative stress, prejudice and discrimination. Furthermore, many recent immigrants have limited financial resources. They also confront many of these same barriers in the health care system along with numerous structural, environmental, and process-related obstacles. Health professionals can empower immigrant patients with disabilities in multiple ways, including (a) providing culturally sensitive services; (b) communicating to them in their native language; (c) learning about Americans with Disabilities Act, Individuals with Disabilities Education Act and other federal and state laws that protect the rights of individuals with disabilities; and (d) informing immigrant patients about their rights and available resources. Most importantly, health professionals can advocate for these patients’ healthcare needs and help them to develop the skills to self-advocate. Self-advocacy can be facilitated by means of training in assertiveness and related communication skills, which are consistent to the patients’ goals and cultural values.[N A J Med Sci. 2016;9(3):116-122. DOI: 10.7156/najms.2016.0903116
Diagnostic Yield of Cytogenomic Abnormalities in Current Prenatal Diagnosis: A Retrospective Analysis in a Clinical Cytogenetics Laboratory
Background: Chromosome microarray analysis has been the first-tier genetic testing for pediatric patients and an integrated testing for prenatal cases. Aims: The purpose of this study was to evaluate the diagnostic yield from current prenatal genetic clinics and to provide guidance for future improvement on prenatal diagnosis of cytogenomic abnormalities. Material and Methods: A retrospective analysis of abnormal findings from karyotyping and array comparative genomic hybridization (aCGH) analysis of amniotic fluid (AF) specimens and chorionic villi samples (CVS) during the 2012-2015 interval was performed. The diagnostic efficiency as determined by the relative frequencies (RF) of different types of cytogenomic abnormalities was compared between prenatal and pediatric case series. Result: Data retrieved from this four-year interval presented 341 AF and 656 CVS with an annual caseload of 249 cases and an abnormality detection rate (ADR) of 20.2%. A comparison with prenatal testing performed in the 2007-2009 interval noted a 57% reduction of annual caseload and a 67% increase in ADR. While the ADR for structural chromosomal abnormalities remained the same; it was estimated that 80% of the increased ADR resulted from improved detection of numerical chromosomal abnormalities and 20% were from submicroscopic genomic aberrations detected by aCGH analysis. The RF for numerical chromosome abnormalities, structural chromosomal abnormalities, microdeletion and microduplication syndromes, and other genomic aberrations were 83.5%, 9%, 3.5% and 4% for the prenatal cases and 8.5%. 9.7%, 37.5% and 44.3% for a pediatric case series, respectively. Similar frequency in the detection of structural chromosomal abnormalities and striking different frequencies in other types of abnormalities were noted. Conclusion: These results indicated that the current prenatal diagnosis is effective in detecting chromosomal abnormalities but has a limitation on detecting genomic aberrations. Better correlations of ultrasonagraphic fetal anomalies and maternal serum fetal DNA quantitation with genomic aberrations are needed to improve prenatal cytogenomic analysis.[N A J Med Sci. 2016;9(4):136-140. DOI: 10.7156/najms.2016.0904136] Key Words: prenatal diagnosis, array comparative genomic hybridization, chromosomal abnormalities,microdeletion/duplication syndromes, pathogenic copy number variants, diagnostic yiel