Abstract:
:Primary ciliary dyskinesia (PCD) is a genetic disorder causing chronic oto-sino-pulmonary disease. No single diagnostic test will detect all PCD cases. Transmission electron microscopy (TEM) of respiratory cilia was previously considered the gold standard diagnostic test for PCD, but 30% of all PCD cases have either normal ciliary ultrastructure or subtle changes which are non-diagnostic. These cases are identified through alternate diagnostic tests, including nasal nitric oxide measurement, high-speed videomicroscopy analysis, immunofluorescent staining of axonemal proteins, and/or mutation analysis of various PCD causing genes. Autosomal recessive mutations in DNAH11 and HYDIN produce normal TEM ciliary ultrastructure, while mutations in genes encoding for radial spoke head proteins result in some cross-sections with non-diagnostic alterations in the central apparatus interspersed with normal ciliary cross-sections. Mutations in nexin link and dynein regulatory complex genes lead to a collection of different ciliary ultrastructures; mutations in CCDC65, CCDC164, and GAS8 produce normal ciliary ultrastructure, while mutations in CCDC39 and CCDC40 cause absent inner dynein arms and microtubule disorganization in some ciliary cross-sections. Mutations in CCNO and MCIDAS cause near complete absence of respiratory cilia due to defects in generation of multiple cellular basal bodies; however, the scant cilia generated may have normal ultrastructure. Lastly, a syndromic form of PCD with retinal degeneration results in normal ciliary ultrastructure through mutations in the RPGR gene. Clinicians must be aware of these genetic causes of PCD resulting in non-diagnostic TEM ciliary ultrastructure and refrain from using TEM of respiratory cilia as a test to rule out PCD.
journal_name
Ultrastruct Patholjournal_title
Ultrastructural pathologyauthors
Shapiro AJ,Leigh MWdoi
10.1080/01913123.2017.1362088subject
Has Abstractpub_date
2017-11-01 00:00:00pages
373-385issue
6eissn
0191-3123issn
1521-0758journal_volume
41pub_type
杂志文章,评审abstract:OBJECT:To study the relationship between monocyte/histiocyte activation and myelodysplastic syndrome (MDS). METHODS:Analyzing ultrastructure and myeloperoxidase reaction of nucleated cells in bone marrow from 59 cases of MDS by transmission electron microscopy. Four groups of MDS were subdivided on the basis of their ...
journal_title:Ultrastructural pathology
pub_type: 杂志文章
doi:10.3109/01913123.2014.888116
更新日期:2014-08-01 00:00:00
abstract::A cystadenoma arose in the urachus of a 32-year-old man. The mass was a multilocular cystic tumor filled with light yellow mucoid material. It was located in the anterior abdominal wall between the umbilicus and the dome of the urinary bladder. Overall, the mass was 14 cm x 8 cm x 5 cm, with the largest internal cyst ...
journal_title:Ultrastructural pathology
pub_type: 杂志文章
doi:10.3109/01913129409023225
更新日期:1994-09-01 00:00:00
abstract::The arginine-rich cationic Tat peptides have been reported to enhance the intracellular delivery of macromolecules, including DNA, RNA, and proteins. In this work an arginine cationic peptide derived from the HIV-1 Tat protein was conjugated with noncovalent bonds to sulfonated aluminum phthalocyanine (AlPcS, a photos...
journal_title:Ultrastructural pathology
pub_type: 杂志文章
doi:10.3109/01913123.2011.557522
更新日期:2011-05-01 00:00:00
abstract::The aim of this study is to investigate the effects of betulinic acid (BA) on triple-negative breast cancer MDA-MB-231 cells and observe the ultrastructural changes. The concentration of BA required to induce apoptosis in MDA-MB-231 cells has been previously reported. In this study, a cell counting kit-8 proliferation...
journal_title:Ultrastructural pathology
pub_type: 杂志文章
doi:10.1080/01913123.2017.1383548
更新日期:2018-01-01 00:00:00
abstract::Osteonecrosis of the jaw is a severe bone disorder traditionally associated with periodontal disease, local malignancy, chemotherapy, glucocorticoid therapy, or trauma. Recently a growing number of publications reported the occurrence of osteonecrosis of the jaw in patients undergoing treatment with bisphosphonates. T...
journal_title:Ultrastructural pathology
pub_type: 杂志文章
doi:10.3109/01913121003729806
更新日期:2010-08-01 00:00:00
abstract::A case of myoepithelial carcinoma arising in a benign myoepithelioma of the minor salivary gland in a 71-year-old patient is reported. The tumor presented initially on the palate and had been diagnosed as "benign lesion" 40 years before. It recurred 22, 36, and 40 years after initial presentation, and a similar histop...
journal_title:Ultrastructural pathology
pub_type: 杂志文章,评审
doi:10.3109/01913129609016309
更新日期:1996-03-01 00:00:00
abstract::As the name suggests, the histogenesis of the granular cell tumor is uncertain, but this intriguing neoplasm has occasioned much speculation and controversy since its description in 1926 as a myoblastoma. Though ubiquitous in its anatomic location, it is usually small, solitary, benign, and readily recognized by routi...
journal_title:Ultrastructural pathology
pub_type: 杂志文章,评审
doi:10.1080/019131299281545
更新日期:1999-07-01 00:00:00
abstract::Tissue biopsies and peripheral blood samples from 10 patients with the characteristic clinical features of acquired immunodeficiency syndrome (AIDS) were examined by electron microscopy and ultracytochemical myeloperoxidase technique. Abundant tubuloreticular inclusions (TRI) were detected within the endoplasmic retic...
journal_title:Ultrastructural pathology
pub_type: 杂志文章
doi:10.3109/01913128309140585
更新日期:1983-06-01 00:00:00
abstract::Excess lipofuscin deposition in tissues is a phenomenon observed in normal aging. The amount of lipofuscin in myocardium, liver, skeletal muscle, and adnexal skin structures varies considerably with age and increases in older individuals. In addition, lipofuscin deposition occurs in association with specific, non-age-...
journal_title:Ultrastructural pathology
pub_type: 杂志文章
doi:10.3109/01913129009076140
更新日期:1990-11-01 00:00:00
abstract::Abstract Diagnosis of primary ciliary dyskinesia (PCD) by identification of dynein arm loss in transmission electron microscopy (TEM) images can be confounded by high background noise due to random electron-dense material within the ciliary matrix, leading to diagnostic uncertainty even for experienced morphologists. ...
journal_title:Ultrastructural pathology
pub_type: 杂志文章,随机对照试验
doi:10.3109/01913123.2013.815081
更新日期:2014-08-01 00:00:00
abstract::A peculiar hyaline sarcoplasmic inclusion in the atrial myocytes of old female Syrian hamsters is described. This type of inclusion resembles that described in rare human cardiomyopathy. They have also been described in other rodents and have been speculated eventually to contain atrial natriuretic factor (ANF). The p...
journal_title:Ultrastructural pathology
pub_type: 杂志文章
doi:10.3109/01913129409016293
更新日期:1994-01-01 00:00:00
abstract:BACKGROUND:Proteinuria is an uncommon clinical manifestation of IgA nephropathy and is usually seen in cases with severe lesions like endocapillary proliferation. However, it is occasionally seen even with cases with mild glomerular manifestations and may even be of nephrotic range. PREDICTOR:Podocyte foot process eff...
journal_title:Ultrastructural pathology
pub_type: 杂志文章
doi:10.3109/01913123.2014.960543
更新日期:2015-04-01 00:00:00
abstract::Finger pulp biopsies of 31 patients suffering from Raynaud's syndrome (RS) were investigated by light and electron microscopy. The patients suffered from various underlying diseases. Interest was focused on the vascular changes and nerve and connective tissue alterations, especially the elastic fiber changes. In the d...
journal_title:Ultrastructural pathology
pub_type: 杂志文章
doi:10.3109/01913128209016642
更新日期:1982-04-01 00:00:00
abstract::The Dallas consensus was used to reveal active or borderline inflammatory loci by light microscopy (LM). When lymphocyte-cardiocyte interaction was observed by electron microscopy (EM), the deleterious or dormant pattern of inflammatory process was recognized. The first was determined by lymphocytes that adhered to ca...
journal_title:Ultrastructural pathology
pub_type: 临床试验,杂志文章
doi:10.3109/01913129509014620
更新日期:1995-11-01 00:00:00
abstract::Canova is an immunomodulatory, homeopathic preparation that has been shown to activate macrophages in vitro and in vivo, with resultant enhanced spreading of the cells and formation of microvillus extensions from the cell body. Since monocytes are the precursor cells of macrophages and dendritic cells, the objective o...
journal_title:Ultrastructural pathology
pub_type: 杂志文章
doi:10.1080/01913120802062729
更新日期:2008-07-01 00:00:00
abstract::Myeloid histocytes of dendritic cells (DCs), Langerhans cells (LCs), and macrophages in varied tissues, as leukemic blasts in acute monoblastic and monocytic leukemia (AML-M5a and M5b), are derived from monocyte progenitors in bone marrow. Based on DC induction from hematopoietic stem cells, myeloid progenitors, and m...
journal_title:Ultrastructural pathology
pub_type: 杂志文章
doi:10.3109/01913123.2015.1120838
更新日期:2016-01-01 00:00:00
abstract::A 60-year-old female presented with a history of hoarseness, cough, chest pain, and dyspnea and a needle biopsy sample was submitted for histology. Light microscopy showed sheets of tumor cells with eosinophilic cytoplasm containing multiple crystals and eccentrically located nuclei. Electron microscopy showed large i...
journal_title:Ultrastructural pathology
pub_type: 杂志文章
doi:10.1080/01913120601172489
更新日期:2007-01-01 00:00:00
abstract::Thirteen malignant mesotheliomas of a sarcomatous type were studied by light microscopy and ten were studied by electron microscopy. The histologic patterns varied from tumor to tumor, often resembling other soft tissue sarcomas. Electron microscopic observation showed most of the tumors to be composed of primitive ce...
journal_title:Ultrastructural pathology
pub_type: 杂志文章
doi:10.3109/01913128309140587
更新日期:1983-06-01 00:00:00
abstract::The ultrastructure of the developing bronchiolar cell was studied in six age groups: prenatal (60 d post-conception); postnatal (1-, 7-, 14- and 21-day-old); and adult. Following intratracheal fixation, the lung tissue was processed for scanning and transmission electron microscopy. The lining of terminal bronchioles ...
journal_title:Ultrastructural pathology
pub_type: 杂志文章
doi:10.3109/01913123.2015.1013654
更新日期:2015-01-01 00:00:00
abstract::Six malignant schwannomas were studied by electron microscopy and immunohistochemistry for S-100 protein at the light and electron microscopic levels to clarify the nature of the tumor cells. Three tumors (group A) were composed of poorly differentiated tumor cells and showed no immunoreactivity for S-100 protein. One...
journal_title:Ultrastructural pathology
pub_type: 杂志文章
doi:10.3109/01913128809048479
更新日期:1988-01-01 00:00:00
abstract::The ultrastructural characteristics useful in identifying a selected series of histologically difficult to diagnose malignant neoplasms of the human gynecological sphere are presented. The results are discussed in relation to routine diagnosis and when appropriate, to their pathogenic origin. ...
journal_title:Ultrastructural pathology
pub_type: 杂志文章
doi:10.3109/01913128709048330
更新日期:1987-01-01 00:00:00
abstract::Two cases of mixed cell type choroidal melanoma were examined by means of conventional and freeze-fracture electron microscopy. Data on average nuclear pore density were readily collected from freeze-fracture replicas of spindle A, spindle B, and epithelioid cells. Highly significant (p less than 0.001) differences in...
journal_title:Ultrastructural pathology
pub_type: 杂志文章
doi:10.3109/01913129009032246
更新日期:1990-07-01 00:00:00
abstract::Inflammation in the liver is an extraintestinal manifestation that is frequently seen during inflammatory bowel diseases (IBD). The authors investigated histopathologycal, ultrastructural and antioxidant effects of dexmedetomidine (Dex) on liver during trinitrobenzene sulfonic acid (TNBS)-induced inflammatory bowel di...
journal_title:Ultrastructural pathology
pub_type: 杂志文章
doi:10.3109/01913123.2013.829150
更新日期:2015-02-01 00:00:00
abstract::Metaplastic breast carcinoma refers to a heterogeneous group of neoplasms in which the typical glandular growth pattern of the tumor undergoes metaplasia, either epithelial or stromal. A 59-year-old woman presented with a breast mass that recurred in 1 year and showed invasion of the chest wall. Histological sections ...
journal_title:Ultrastructural pathology
pub_type: 杂志文章
doi:10.3109/01913129509021916
更新日期:1995-09-01 00:00:00
abstract::A new rapid method for the processing of biopsy specimens for electron microscopy is described. The method uses standard reagents and media and employs ultrasonic cleaning bath agitation to accelerate fluid exchange. The procedure takes approximately 2.5 h from specimen excision to polymerized block and gives excellen...
journal_title:Ultrastructural pathology
pub_type: 杂志文章
doi:10.3109/01913129109021307
更新日期:1991-01-01 00:00:00
abstract::This report describes the light (LM) and electron microscopic (EM) features and the results of an indirect immunofluorescence study (IF), the latter using monoclonal and monospecific antibodies to cytoskeletal proteins, of a malignant, invasive and metastatic breast myoepithelioma. A 53-year-old female underwent maste...
journal_title:Ultrastructural pathology
pub_type: 杂志文章
doi:10.3109/01913128509141504
更新日期:1985-01-01 00:00:00
abstract::We report a case of primary intraabdominal ependymoma arising in the retropubic space of a male patient. An incidental intraabdominal mass was discovered in a 51-year-old man. Radiological studies revealed a 10 cm, solid and cystic tumor located in the Retzius fossa. Microscopically, the lesion was characterized by mu...
journal_title:Ultrastructural pathology
pub_type: 杂志文章
doi:10.1080/01913123.2020.1836104
更新日期:2020-11-20 00:00:00
abstract::The ultrastructural and immunohistochemical features of a primary tumor of the ileum showing the classic histologic features of an inflammatory fibroid polyp (IFP) of the gastrointestinal tract are presented. Ultrastructurally the proliferating cells showed a combination of fibroblastic and histiocytic features, with ...
journal_title:Ultrastructural pathology
pub_type: 杂志文章
doi:10.1080/01913129009025123
更新日期:1990-03-01 00:00:00
abstract::The aim of this work was the study of ultrastructural morphologic and morphometric changes in myocardiocytes from chronic chagasic hamsters (Mesocricetus auratus), comparatively with changes described in other animal models and in human Chagas disease. Four chagasic animals and three nonchagasic controls were studied....
journal_title:Ultrastructural pathology
pub_type: 杂志文章
doi:10.1080/019131290923974
更新日期:2005-03-01 00:00:00
abstract::In the last two decades, the ability of mesangial cells to respond to various stimuli or injurious agents by altering their phenotype and function has become recognized. The plasticity of these mesangial cells has been linked to the morphological and functional alterations responsible for the pathologic findings. Many...
journal_title:Ultrastructural pathology
pub_type: 杂志文章,评审
doi:10.1080/01913120600932594
更新日期:2006-11-01 00:00:00