Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructure.


: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.


Ultrastruct Pathol


Shapiro AJ,Leigh MW




Has Abstract


2017-11-01 00:00:00












  • Betulinic acid induces apoptosis and ultrastructural changes in MDA-MB-231 breast cancer cells.

    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


    authors: Gao Y,Ma Q,Ma YB,Ding L,Xu XL,Wei DF,Wei L,Zhang JW

    更新日期:2018-01-01 00:00:00

  • Malignant meningioma of the parapharyngeal space: a case report.

    abstract::A case of a malignant meningioma arising in the left parapharyngeal space in a 29-year-old woman is reported. Electron microscopic examination of the tumor was critical in establishing the diagnosis. Meningiomas of the parapharyngeal space are extremely rare. This constitutes the first malignant case documented in thi...

    journal_title:Ultrastructural pathology

    pub_type: 杂志文章


    authors: Dominguez-Malagon H,Ordóñez NG

    更新日期:1996-01-01 00:00:00

  • Multiple wall in-folds sub-divide single segments during capillary regression in hyperoxic acute lung injury.

    abstract::The present study provides further insight into the structural processes that remodel pulmonary capillaries in the injured adult lung. Early in hyperoxia acute lung injury (HALI), many sub-dividing segments are present throughout the capillary network before segment occlusion and loss predominate and capillary density...

    journal_title:Ultrastructural pathology

    pub_type: 杂志文章


    authors: Jones RC,Capen DE

    更新日期:2014-05-01 00:00:00

  • Plural immunoglobulin synthesis in a single cell: an ultrastructural study of two cases with three M-proteins.

    abstract::Electrophoresis revealed two cases of malignant lymphoma that each contained three M-proteins (IgM lambda.lgG kappa.lgG lambda and IgM lambda.IgM kappa.lgG kappa) in the sera. To determine cellular origin of each M-protein, atypical lymphoid and plasmacytoid cells of both cases were examined by electron microscopy. At...

    journal_title:Ultrastructural pathology

    pub_type: 杂志文章,评审


    authors: Saito N,Hirai K,Torimoto Y,Taya N,Kohgo Y,Takemori N,Tokuyasu Y,Miyokawa N

    更新日期:1998-11-01 00:00:00

  • Ultrastructure of an endometrial stromal nodule with skeletal muscle.

    abstract::The ultrastructural appearance of an endometrial stromal nodule with prominent smooth and skeletal muscle differentiation is described. This is the first reported case of endometrial stromal nodule with a heterologous skeletal muscle component and emphasizes the value of electron microscopy and its correlation with im...

    journal_title:Ultrastructural pathology

    pub_type: 杂志文章


    authors: Lloreta J,Prat J

    更新日期:1993-05-01 00:00:00

  • Glial fibrillary acidic protein (GFAP) immunoreactivity in peripheral nerve sheath tumors.

    abstract::A spectrum of 24 benign and malignant nerve sheath tumors and 10 non-neural spindle-cell tumors were studied by light microscopy for the presence of glial fibrillary acidic protein (GFAP) immunoreactivity by the peroxidase-antiperoxidase (PAP) technique. In 8 cases, these results were compared to their electron micros...

    journal_title:Ultrastructural pathology

    pub_type: 杂志文章


    authors: Memoli VA,Brown EF,Gould VE

    更新日期:1984-01-01 00:00:00

  • Morphologic characteristics of blastic plasmacytoid dendritic cell neoplasm: a case report.

    abstract::Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare aggressive lymphoma derived from plasmacytoid dendritic cells or precursor dendritic cells. Despite some 240 reported cases, its morphology and especially ultrastructure has not been satisfactorily studied. A case is reported of a 13 year old boy, who, des...

    journal_title:Ultrastructural pathology

    pub_type: 杂志文章


    authors: Ru Y,Zhang P,Dong S,Wang H,Zhao S,Mi Y,Eyden B

    更新日期:2014-02-01 00:00:00

  • Intracisternal tubules in human melanoma cells.

    abstract::Aggregates of parallel microtubules have been found within cisternae of the rough endoplasmic reticulum in cells of six human metastatic melanomas. The tubules have a uniform diameter and regular spacing and in longitudinal sections can be seen to possess a fine periodicity. They are compared with tubuloreticular incl...

    journal_title:Ultrastructural pathology

    pub_type: 杂志文章


    authors: Mackay B,Ayala AG

    更新日期:1980-01-01 00:00:00

  • Glomerulocystic disease and lupus glomerulonephropathy.

    abstract::A renal biopsy demonstrated the presence of both glomerulocystic disease (GCD) and lupus glomerulonephropathy in a patient who was admitted for an unrelated disease and was found to have proteinuria and renal failure. Of 12 adult patients with GCD reported in the literature, some form of glomerulonephropathy was demon...

    journal_title:Ultrastructural pathology

    pub_type: 杂志文章,评审


    authors: Carstens HB,Nassar RN

    更新日期:1994-01-01 00:00:00

  • Malignant myoepithelioma (myoepithelial carcinoma) of the breast: an ultrastructural and immunocytochemical study.

    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


    authors: Schürch W,Potvin C,Seemayer TA

    更新日期:1985-01-01 00:00:00

  • Ultrastructural changes in epithelial cells of rats exposed to low concentration of hydrogen sulfide for 50 days.

    abstract::Hydrogen sulfide (H2S) and other volatile sulfur compounds (VSCs) appear mainly in the oral air of patients with halitosis. It seems that VSCs are directly involved in the pathogenesis of gingival diseases. In previous studies, short-term (7 hours-4 days), high concentrations (5-400 ppm) of H2S applications on periodo...

    journal_title:Ultrastructural pathology

    pub_type: 杂志文章


    authors: Yalçın Yeler D,Aydın M,Hocaoğlu PT,Koraltan M,Özdemir H,Kotil T,Gül M

    更新日期:2016-11-01 00:00:00

  • Sarcomatoid renal cell carcinoma metastatic to the heart: report of a case.

    abstract::An unusual case of metastatic sarcomatoid renal cell carcinoma is presented. Fifteen months after nephrectomy for a typical clear cell carcinoma, a 63-year-old man presented with bilateral pleural effusions, cardiomegaly, and tamponade. A pericardial biopsy showed an anaplastic spindle cell tumor that was strongly ker...

    journal_title:Ultrastructural pathology

    pub_type: 杂志文章


    authors: Bird DJ,Semple JP,Seiler MW

    更新日期:1991-07-01 00:00:00

  • Bednar tumor: report of a case with immunohistochemical and ultrastructural study.

    abstract::A slowly growing tumor in the right shoulder of a 38-year-old white male, which felt like a superficial cystic mass, was studied. The spindle cells, which represented the main component of the tumor, were arranged in a typical storiform pattern and were positive for CD34 and focally for CD117. The pigmented cells were...

    journal_title:Ultrastructural pathology

    pub_type: 杂志文章


    authors: Seo IS,Goheen M,Min KW

    更新日期:2003-05-01 00:00:00

  • Carcinoma versus cytokeratin-positive lymphoma: a case report emphasizing the diagnostic role of electron microscopy.

    abstract::Lymphoma diagnosis rarely needs electron microscopy (EM), but one area where it can be useful is in the distinction of cytokeratin-positive lymphoma from carcinoma. The authors describe such a case, where difficulties were encountered due to lack of antibody specificity, distinguishing reactive from tumoral cells, and...

    journal_title:Ultrastructural pathology

    pub_type: 杂志文章


    authors: Eyden B,Chakrabarty B,Hatimy U

    更新日期:2009-01-01 00:00:00

  • Value of electron microscopy in the diagnosis of glomerular diseases.

    abstract::To evaluate the contribution of electron microscopy to the final diagnosis of glomerulopathies, the authors established a prospective study during the first semester of 2006. A total of 52 kidney biopsies were performed with 3 samples for light microscopy, immunofluorescence, and electron microscopy. Among these renal...

    journal_title:Ultrastructural pathology

    pub_type: 杂志文章


    authors: Darouich S,Goucha RL,Jaafoura MH,Moussa FB,Zekri S,Maiz HB

    更新日期:2010-04-01 00:00:00

  • Immunolocalization of cellular fibronectins in the normal liver, cirrhosis, and hepatocellular carcinoma.

    abstract::Cellular (c) fibronectins (Fn) differ biochemically, immunologically, and functionally from plasma fibronectins (pFn). Most existing data on Fn distribution in the normal and diseased liver require revision because those studies were based on reagents that did not distinguish pFn from cFn and predated the development ...

    journal_title:Ultrastructural pathology

    pub_type: 杂志文章


    authors: Koukoulis GK,Shen J,Virtanen I,Gould VE

    更新日期:1995-01-01 00:00:00

  • Monoclonal glomerulopathy with features of cryoglobulinemic glomerulopathy in murine multiple myeloma model.

    abstract::In vivo and animal models of monoclonal light chain-associated renal diseases are limited. The Vk*MYC transgenic model with multiple myeloma in 50-70 weeks old mice with renal involvement has been reported before, but detailed renal pathologic changes have not been well documented. This study fully investigated pathol...

    journal_title:Ultrastructural pathology

    pub_type: 杂志文章


    authors: Zhang PL,Herrera GA,Liu B

    更新日期:2020-11-20 00:00:00

  • Pigments of the gastrointestinal tract: a comparison of light microscopic and electron microscopic findings.

    abstract::It is now apparent that light microscopy and histochemistry failed to identify correctly the nature and composition of pigments in various gastrointestinal tract melanoses. In most instances it was thought that the pigment was melanin or a melanin-like substance. Electron microscopy (EM) and electron-probe energy disp...

    journal_title:Ultrastructural pathology

    pub_type: 杂志文章,评审


    authors: Ghadially FN,Walley VM

    更新日期:1995-07-01 00:00:00

  • Alpha and beta subunits of glycoprotein hormones in argyrophil pituitary tumors with small granule cells.

    abstract::A group of 33 functionless pituitary tumors with small argyrophil groups (SAG) were collected from a series of 200 pituitary adenomas (16.5% of all adenomas). Histologically, the tumors showed an unusually high frequency of trabecular patterns, perivascular pseudo-rosettes, and oncocytoid transformation. Immunoreactiv...

    journal_title:Ultrastructural pathology

    pub_type: 杂志文章


    authors: Capella C,Buffa R,Usellini L,Frigerio B,Jehenson P,Sessa F,Solcia E

    更新日期:1983-01-01 00:00:00

  • Thickening of glomerular capillary walls: a guide to differential diagnosis by electron microscopy.

    abstract::Thickening of capillary walls is a feature of many glomerular diseases. Widening of the wall may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself. Careful light microscopic examination using special stains can distinguish som...

    journal_title:Ultrastructural pathology

    pub_type: 杂志文章


    authors: Seymour AE,Canny A,Spargo BH

    更新日期:1983-03-01 00:00:00

  • Glycogen Storage Disorder due to Glycogen Branching Enzyme (GBE) Deficiency: A Diagnostic Dilemma.

    abstract::Glycogen branching enzyme deficiency/Andersen disease can manifest with a spectrum of clinical phenotypes, making the diagnosis difficult. An 11-year-old Pakistani boy presented with a history of progressive weakness and delayed milestones. Echocardiography showed features of dilated cardiomyopathy. He was suspected t...

    journal_title:Ultrastructural pathology

    pub_type: 杂志文章


    authors: Kakkar A,Sharma MC,Nambirajan A,Sarkar C,Suri V,Gulati S

    更新日期:2015-01-01 00:00:00

  • Detection of villous conidia of Conidiobolus coronatus in a blood sample by scanning electron microscopy investigation.

    abstract::Conidiobolus coronatus is a major insect pathogen belonging to the fungal order Entomophthorales, causing a rare subcutaneous infection of the nasofacial region, resulting in swelling of predominantly the nose, mouth, and perinasal tissue. Later in the course of the infection firm, painless, subcutaneous nodules devel...

    journal_title:Ultrastructural pathology

    pub_type: 杂志文章


    authors: Hoogendijk CF,Pretorius E,Marx J,Van Heerden WE,Imhof A,Schneemann M

    更新日期:2006-01-01 00:00:00

  • An ultrastructural study of mast cell interactions in hemangiomas.

    abstract::Hemangiomas, the most common tumors of infancy, are characterized by a postnatal period of rapid growth, followed by a phase of gradual involution. The proliferative phase is characterized by increased numbers of endothelial and mast cells and thickened basement membrane. Ultrastructural analysis of hemangiomas in the...

    journal_title:Ultrastructural pathology

    pub_type: 杂志文章


    authors: Dethlefsen SM,Mulliken JB,Glowacki J

    更新日期:1986-01-01 00:00:00

  • Unusual pigmented vesical lesion in a middle-aged woman.

    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


    authors: Herrera GA,Turbat-Herrera EA,Lockard VG

    更新日期:1990-11-01 00:00:00

  • Sclerosing stromal tumor of the ovary: an ultrastructural and immunohistochemical analysis with histogenetic considerations.

    abstract::Sclerosing stromal tumors are rare, benign ovarian neoplasms of unknown etiology and histogenesis. Three sclerosing stromal tumors were evaluated by immunohistochemistry and electron microscopy and were compared to two thecomas and nonneoplastic ovarian mesenchymal tissue. The sclerosing stromal tumors and thecomas we...

    journal_title:Ultrastructural pathology

    pub_type: 杂志文章


    authors: Shaw JA,Dabbs DJ,Geisinger KR

    更新日期:1992-05-01 00:00:00

  • Early ultrastructural changes in the central nervous system in Fukuyama congenital muscular dystrophy.

    abstract::Electron microscopy of the central nervous system surface structure is described in two fetuses with Fukuyama congenital muscular dystrophy (FCMD). In addition to relatively large surface defects, many minute defects less than several micrometers in size associated with protrusion of glial cytoplasm were observed in t...

    journal_title:Ultrastructural pathology

    pub_type: 杂志文章


    authors: Yamamoto T,Shibata N,Kanazawa M,Kobayashi M,Komori T,Kondo E,Saito K,Osawa M

    更新日期:1997-07-01 00:00:00

  • Ultrastructural aspects of enterocyte defects in infancy and childhood.

    abstract::Although there has been substantial progress in the identification of diarrheal diseases in infancy and childhood, electron microscopy may be still required for establishing diagnosis, staging, and response to therapy. This review describes severe conditions in which histopathologic examination alone cannot provide a ...

    journal_title:Ultrastructural pathology

    pub_type: 杂志文章,评审


    authors: Iancu TC,Manov I

    更新日期:2010-05-01 00:00:00

  • Ultrastructural myopathology in the molecular era.

    abstract::Electron microscopy is an essential component of myopathology, both in diagnostics and research of neuromuscular diseases. Although recently reduced in the diagnostic armamentarium, it has greatly been expanded to mouse models in research. Mostly it is descriptive, but a few additional techniques in combination with t...

    journal_title:Ultrastructural pathology

    pub_type: 杂志文章,评审


    authors: Goebel HH,Stenzel W

    更新日期:2013-10-01 00:00:00

  • Ultrastructural examination of renal tubular epithelial cells and hepatocytes in the course of chronic cyclosporin A treatment--a possible link to oxidative stress.

    abstract::Cyclosporin A is an immunosuppressant drug used to prevent graft rejection in organ transplantation. Side effects include toxicity to the kidney and liver. Recently, many experimental and clinical data have demonstrated that CsA-induced toxicity is associated with increased production of reactive oxygen species (ROS) ...

    journal_title:Ultrastructural pathology

    pub_type: 杂志文章


    authors: Korolczuk A,Maciejewski M,Czechowska Md Phd G,Orzeł-Pankowska M

    更新日期:2013-10-01 00:00:00

  • Ultrastructure of poorly differentiated diffuse epithelial mesotheliomas.

    abstract::In differentiating diffuse epithelial mesothelioma from metastatic adenocarcinoma in pleural and peritoneal biopsies, the number and form of microvilli and the amount and distribution of tonofilaments are thought to be the most useful criteria. This report details 5 cases of diffuse epithelial mesothelioma in which th...

    journal_title:Ultrastructural pathology

    pub_type: 杂志文章


    authors: Dardick I,Al-Jabi M,McCaughey WT,Srigley JR,van Nostrand AW,Ritchie AC

    更新日期:1984-01-01 00:00:00