North American journal of medicine & science最新文献_第4页

Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases. 溶酶体贮积病的酶筛选和诊断。

North American journal of medicine & science Pub Date : 2013-01-01 DOI: 10.7156/najms.2013.0604186

Chunli Yu, Qin Sun, Hui Zhou

{"title":"Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases.","authors":"Chunli Yu, Qin Sun, Hui Zhou","doi":"10.7156/najms.2013.0604186","DOIUrl":"https://doi.org/10.7156/najms.2013.0604186","url":null,"abstract":"<p><p>Lysosomal 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.</p>","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"6 4","pages":"186-193"},"PeriodicalIF":0.0,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.7156/najms.2013.0604186","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34570866","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 24

Molecular Diagnostic of Pediatrics Rare Disease in Childrens Hospital of Fudan University 复旦大学附属儿童医院儿科罕见病的分子诊断

North American journal of medicine & science Pub Date : 2013-01-01 DOI: 10.7156/NAJMS.2013.0604219

Huijun Wang, Bingbing Wu, Y. An, Yi Yang, Bai-Lin Wu, Wenhao Zhou

引用次数: 1

Speech and Language Impairments in Autism: Insights from Behavior and Neuroimaging. 自闭症的言语和语言障碍:来自行为和神经影像学的见解。

North American journal of medicine & science Pub Date : 2013-01-01 DOI: 10.7156/v5i3p157

Maria Mody, John W Belliveau

引用次数: 94

Establishing the First Diagnosis of Follicular Thyroid Carcinoma from the Femoral Metastatic Site in an 84-year-old Woman 一例84岁女性股骨转移部位首次诊断为滤泡性甲状腺癌

North American journal of medicine & science Pub Date : 2012-11-01 DOI: 10.1093/AJCP/138.SUPPL2.282

Yunguang Liu, Frank Chen

{"title":"Establishing the First Diagnosis of Follicular Thyroid Carcinoma from the Femoral Metastatic Site in an 84-year-old Woman","authors":"Yunguang Liu, Frank Chen","doi":"10.1093/AJCP/138.SUPPL2.282","DOIUrl":"https://doi.org/10.1093/AJCP/138.SUPPL2.282","url":null,"abstract":"Follicular thyroid carcinoma (FTC) commonly presents as a solitary thyroid nodule, which is diagnosed by thorough examination of thyroidectomy/lobectomy specimen for capsular and vascular invasions. First diagnosis of FTC from femoral metastasis is very rare. Here, we report such a case in an 84-year-old woman who presented with increasing pain in her left thigh. A bone scan revealed multiple lesions in the bones including left femur. Four years ago, the patient suffered right humeral pathological fracture. The humeral lesion was positive for TTF-1 and was interpreted as “metastatic non-small cell carcinoma consistent with lung primary”. However, subsequent bronchial washing and lung biopsy were negative for malignancy. Biopsy of left femoral lesion showed solid nests of cells with round to oval nuclei and abundant eosionophilic/granular cytoplasm. The nuclei of tumor cells contain one or more nucleoli and granular/vesicular chromatin. No typical nuclear morphology of papillary thyroid carcinoma (PTC) was noted. The tumor cells are positive for thyroglobulin and TTF-1, consistent with metastatic tumor from thyroid primary. Immunostains of HBME-1 and CK19 only mark scattered tumor cells, which do not support the differential diagnosis of metastatic PTC. CD56 and CK7 stains are both positive. Upon further communication, patient's remote history of “thyroid follicular adenoma”, status post right lobectomy was obtained. The femoral lesion was negative for BRAF mutation. In conclusion, based on the overall morphological and immunohistochemical features as well as patient’s history, the final diagnosis of metastatic FTC was made. We would like to raise the awareness that metastatic FTC should be included in the differential diagnoses for tumors metastasized to bone to avoid misdiagnosis.","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"19 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2012-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81137263","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Recent Advances in Follicular Variant of Papillary Thyroid Carcinoma 甲状腺乳头状癌滤泡变异的研究进展

North American journal of medicine & science Pub Date : 2012-10-31 DOI: 10.7156/NAJMS.2012.054212

Haiying Chen, I. Izevbaye, Frank Chen, B. Weinstein

引用次数: 18

Cell Block Examination Is Critical for Sarcoidosis Diagnosis by Endobronchial Ultrasound-Guided Mediastinal Lymph Node Fine Needle Aspiration 超声引导下纵隔淋巴结细针抽吸细胞阻滞检查对结节病诊断至关重要

North American journal of medicine & science Pub Date : 2012-10-31 DOI: 10.7156/NAJMS.2012.054198

He Wang, M. A. Rao, Anthony Lafranco, A. Vachani, A. Haas, Mbbs Md Fiac Prabodh Gupta

{"title":"Cell Block Examination Is Critical for Sarcoidosis Diagnosis by Endobronchial Ultrasound-Guided Mediastinal Lymph Node Fine Needle Aspiration","authors":"He Wang, M. A. Rao, Anthony Lafranco, A. Vachani, A. Haas, Mbbs Md Fiac Prabodh Gupta","doi":"10.7156/NAJMS.2012.054198","DOIUrl":"https://doi.org/10.7156/NAJMS.2012.054198","url":null,"abstract":"Intrathoracic sarcoidosis is often diagnosed by transbronchial lung parenchymal biopsy (TBBx), however, recent studies suggest endobronchial ultrasound-guided transbronchial fine needle aspiration of mediastinal lymph node (EBUS-FNA) is safer with superior diagnostic yield. We report our experience from 2008 to 2010 with combined EBUS-FNA and TBBx in 61 consecutive patients with clinical suspicion of sarcoidosis. One to three mediastinal lymph nodes (LN) in various locations were sampled using 21/22-gauge needles with on-site interpretation. Additional one to two specimens per site were collected in Normosol® for cell block preparations. A definitive diagnosis of sarcoidosis was made in 51 patients (84%) by EBUS-FNA/TBBx studies (46) and clinical information (5); alternative diagnoses were established in 8 patients (13 %); the last 2 patients remained suspicious for sarcoidosis without confirmatory tissue diagnosis. Of the 46 biopsy (EBUS-FNA and/or TBBx) confirmed cases, 37 (80.0%) were diagnosed by EBUS-FNA. Cell blocks prepared from all 37 patients contained diagnostic material, 10 (27.0%) were interpreted as such by on-site evaluations. The diagnostic yield of LNs at different locations varied, being 100, 68, 50 and 20% in R12, subcarinal, R4, and R11, respectively. A total of 36 patients had both EBUS-FNA and TBBx performed during the same visit. Diagnoses were identical in 15 patients (42 %). TBBx independently identified 9 cases of sarcoidosis. This study indicates that cell block preparation is valuable for EBUS-FNA diagnosis of sarcoidosis. EBUS-FNA and TBBx are effective and complimentary tools for intrathoracic sarcoidosis diagnosis. [N A J Med Sci. 2012;5(4):198-202.]","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"1 1","pages":"198"},"PeriodicalIF":0.0,"publicationDate":"2012-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89609727","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Expression of PAX2 and Renal Cell Carcinoma Antigen in Mucoepidermoid Carcinoma PAX2与肾细胞癌抗原在黏液表皮样癌中的表达

North American journal of medicine & science Pub Date : 2012-10-31 DOI: 10.7156/NAJMS.2012.054203

Yunguang Liu, R. Cheney, A. Omilian, C. Morrison, Bo Xu

{"title":"Expression of PAX2 and Renal Cell Carcinoma Antigen in Mucoepidermoid Carcinoma","authors":"Yunguang Liu, R. Cheney, A. Omilian, C. Morrison, Bo Xu","doi":"10.7156/NAJMS.2012.054203","DOIUrl":"https://doi.org/10.7156/NAJMS.2012.054203","url":null,"abstract":"Clear 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.]","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"27 1","pages":"203"},"PeriodicalIF":0.0,"publicationDate":"2012-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79033007","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

t(1;3)(p36;p21) as the Sole Clonal Abnormality in Refractory Acute Myeloid Leukemia t(1;3)(p36;p21)是难治性急性髓系白血病的唯一克隆异常

North American journal of medicine & science Pub Date : 2012-10-30 DOI: 10.7156/NAJMS.2012.054235

B. Bai, G. Lu, Shimin Hu, C. Yin

{"title":"t(1;3)(p36;p21) as the Sole Clonal Abnormality in Refractory Acute Myeloid Leukemia","authors":"B. Bai, G. Lu, Shimin Hu, C. Yin","doi":"10.7156/NAJMS.2012.054235","DOIUrl":"https://doi.org/10.7156/NAJMS.2012.054235","url":null,"abstract":"Acute 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.","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"112 1","pages":"235"},"PeriodicalIF":0.0,"publicationDate":"2012-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78112054","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Clear Cell Papillary Renal Cell Carcinoma - A New Emerging Entity 透明细胞乳头状肾细胞癌-一个新出现的实体

North American journal of medicine & science Pub Date : 2012-10-30 DOI: 10.7156/NAJMS.2012.054224

M. Sinnott, Frank Chen, K. Kanehira, Nobert Sule, Bo Xu

引用次数: 1

Primary Mucinous Carcinoid of the Ovary Arising in a Mature Cystic Teratoma: A Case Report with Review of the Literature 成熟囊性畸胎瘤并发原发性卵巢粘液样癌1例并文献复习

North American journal of medicine & science Pub Date : 2012-10-30 DOI: 10.7156/NAJMS.2012.054239

Ying Huang, Asangi R. Kumarapeli, Frank Chen, T. Paczos

{"title":"Primary Mucinous Carcinoid of the Ovary Arising in a Mature Cystic Teratoma: A Case Report with Review of the Literature","authors":"Ying Huang, Asangi R. Kumarapeli, Frank Chen, T. Paczos","doi":"10.7156/NAJMS.2012.054239","DOIUrl":"https://doi.org/10.7156/NAJMS.2012.054239","url":null,"abstract":"Primary mucinous carcinoid of the ovary is an extremely rare neoplasm with less than thirty cases reported in the English literature. The clinical behavior and pathologic features have not been well characterized. Here we report a case of a 42-year-old female who underwent laparoscopic salpingo-oophorectomy for a left ovarian mass. The ovary was received for histopathologic evaluation in multiple pieces among which a 1.1 cm firm tan nodule was identified. Histologically, this nodule composed of small glandular structures scattered in pools of mucin adjacent to a mature cystic teratoma. The glands were lined by goblet and columnar cells and showed no appreciable atypia. Immunohistochemistry revealed intense, diffuse staining pattern of the mucinous tumor component for CK20, CDX-2 and villin and focal patchy positivity for CK7 and chromogranin. Metastatic tumors from the GI tract and Krukenberg tumors were considered in this patient’s differential diagnosis. She subsequently underwent a total abdominal hysterectomy with staging and appendectomy. However, no evidence of primary gastrointestinal malignancy or residual ovarian disease was found. The histologic and immunohistochemical characteristics of the tumor, its intimate association with a mature cystic teratoma and the absence of primary malignancy elsewhere are compatible with the diagnosis of a primary ovarian mucinous carcinoid tumor. This case is presented to raise the awareness of a rare tumor entity among the pathology and gynecologic communities.","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"31 1","pages":"239"},"PeriodicalIF":0.0,"publicationDate":"2012-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84920189","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 8