The entity sinusitis, bronchiectasis, and situs inversus is since long named Kartagener syndrome. Nowadays the designation used is primary ciliary dyskinesia (PCD), which implies cilia with decreased or total absence of motility, which may result in sinusitis, chronic bronchitis, bronchiectasis, and male infertility. A large number of deficiencies detectable on the ultrastructural level give rise to PCD. There may also be aberrations not detected up to the present. The normal left–right asymmetry of the body is thought to be due to the beating of the cilia in the embryonic (Hensen's) node. Total immotility of the cilia should therefore result in random asymmetry of the body that is situs inversus in 50% of the cases. It has also been claimed that 50% of cases with PCD have situs inversus. However, several deficiencies apparently do not cause total immotility, and all ultrastructural variants are not associated with situs inversus in 50% of the cases. Several of the deficiencies are difficult to detect. Optimal fixation and handling are therefore obligatory. The genetic changes behind the variants are now being studied in several laboratories. Patients with PCD have very low levels of nasal nitric oxide, which is of increasing diagnostic importance. Other established diagnostic methods are the saccharine test and determination of ciliary beat frequency.

BACKGROUND:Fine-needle aspiration cytology (FNAC) is gaining increased popularity in the diagnosis of musculoskeletal lesions; and, in many patients, a definitive diagnosis can be rendered from aspiration smears alone. The main limitation of FNAC of soft tissue and bone neoplasms is in the evaluation of tissue architecture. In addition cytologic specimens are not always adequate for ancillary studies.METHODS:A consecutive series of 130 patients with soft tissue and bone lesions was examined by core-needle biopsy (CNB) performed by a cytopathologist in conjunction with FNAC. The findings of this combined diagnostic approach were compared with histologic diagnoses made on surgical biopsies and resected specimens from 86 patients. Adequate follow-up was available in all patients.RESULTS:FNAC combined with CNB correctly could identify 77 of 78 malignant lesions and 50 of 52 benign lesions. Only seven patients underwent incisional biopsy. The tumor subtype was determined correctly in 30 of 39 patients (77%) and the malignancy grade was determined in 35 of 39 patients (90%) with primary soft tissue and bone sarcomas compared with the biopsy or operative specimens.CONCLUSIONS:FNAC of musculoskeletal tumors/lesions complemented with CNB combined cytomorphology with tissue architecture and ancillary procedures. In the current study, obtaining FNAC as well as CNB at the same clinic visit and by the cytopathologist made preliminary diagnosis on the day of referral possible. This speeded diagnosis increased the number of correct diagnoses and usually enabled correct subtyping and malignancy grading of sarcomas.

Transmission electron microscopy of nasal cilia was performed in three patients, two of them siblings, with repeated respiratory infections. Number of microtubuli and dynein arms were within normal limits and they had an ordered arrangement except for a disarray of the microtubuli in some areas of the biopsies from two of the patients. In the normal areas radial spokes and sheaths were easily found but nexin links could not be discerned in any of the patients. The orientation of the cilia was partly random. As all patients repeatedly and constantly had very low nasal NO (range 9-15 ppb; normal findings for persons <10 years old are > 50 ppb), the diagnoses were very likely primary ciliary dyskinesia (PCD). Absence of nexin links may be an ultrastructural variant of PCD. Deficiency of these structures might be the cause of the microtubular disarray observed in some areas of the biopsies.

Elastofibroma dorsi (EFD) is a relatively rare soft tissue mass, probably of reactive nature. The lesion is typically located near the inferior margin of the scapula or between the inferior part of scapula and the chest wall in elderly women. Although location of the tumor together with the age/sex of the patients and radiologic findings is often suggestive of the diagnosis, tissue examination has been considered necessary to confirm the diagnosis. Although the histologic features of EFD are well known, there are only four single case reports of the cytologic findings in the English language literature. We describe the cytologic features of EFD in five patients with correlations to clinical, radiologic, histologic, and electron microscopic findings. The current study suggests that the fine‐needle aspiration (FNA) features are highly diagnostic, permitting a firm diagnosis of EFD in a typical clinical setting and eliminating the need for preoperative histologic examination. Diagn. Cytopathol. 2003;29:327–333. © 2003 Wiley‐Liss, Inc.

Although extraskeletal myxoid chondrosarcoma (EMC) is a rare soft tissue sarcoma, its morphological, ultrastructural, and cytogenetical features have been well investigated. The authors describe a very rare variant of EMC with neuroendocrine differentiation. A 49-year-old woman presented with an 11-cm, deep-seated, lobulated soft tissue mass in the left thigh and a lymph node metastasis in the left groin. Analysis of fine-needle aspiration biopsy (FNAB) smears and a cellblock prepared from FNAB material, as well as histological sections of the excised tumor, showed a neoplasm composed of rounded and elongated cells arranged in strands and cords in a myxoid background matrix. The nuclei were rounded and often eccentric. The immunohistochemical phenotype was S-100 protein -, neuron specific enolase +, and chromogranin A+. Electron microscopy showed tumor cells harboring numerous mitochondria, partial basal lamina, and unequivocal neuroendocrine granules. Molecular genetic analysis revealed a TAF15/NR4A3 fusion, a characteristic rearrangement occurring in about 25% of cytogenetically investigated EMC. A few cases of EMC with neuroendocrine differentiation have been reported. However, the only previously described case with genetic information also displayed the t(9;17) instead of the more common t(9;22), suggesting an association between type of primary chromosome abnormality and neuroendocrine differentiation.

Intestinal spirochetes in humans have been recognized for more than a century, but it is still a matter of debate whether they are just commensal organisms or whether they cause colorectal disease. Most descriptions to date are of adult patients, while reports in the pediatric literature have been scarce. In a retrospective study we found eight children with intestinal spirochetosis. The findings, clinical as well as pathological, with light‐ and electron microscopy, are presented. In all patients, a 3 μm‐thick layer of spirochetes was visualised on the luminal aspect of the epithelial cells covering the enterocytes and part of the gland openings. In five of the eight cases an inflammatory cell reaction was seen by light microscopy and in one patient a picture suggesting intracytoplasmatically located spirochetes was seen by electron microscopy. Despite partial or complete destruction of microvilli, spirochetes were still able to adhere to the enterocyte membranes. In three children there was a clear correlation between treatment and relief of symptoms. In four there was partial improvement and in one child no change in bowel‐related symptoms. We believe that intestinal spirochetes may cause colorectal disease in children. Possible pathogenic mechanisms are discussed.

Granular cell tumors (GCTs) are uncommon tumors of putative schwannian derivation that are rarely malignant. Although recent studies have addressed a histologic correlation with malignant behavior, similar studies have not been done on cytologic material.

BACKGROUND:Spindle cell lipoma (SCL) is a relatively uncommon, benign tumor that usually presents in the subcutaneous fat of adult men. Although some studies have addressed the histologic findings of SCL, only a few descriptions of aspiration cytology findings have been published. The cytologic features are poorly defined, and aspirates from SCL may cause diagnostic problems, because SCL shares some features with other fatty/spindle cell or myxoid lesions, benign as well as malignant.METHODS:Twelve patients underwent fine-needle aspiration (FNA) cytology as the primary diagnostic modality before surgery. FNA findings were evaluated and correlated with histologic features. In addition, radiologic, electron microscopic, and cytogenetic findings were analyzed. The objective of this study was to determine cytologic criteria of SCL by reviewing cytologic specimens in 12 patients with SCL who underwent FNA cytology.RESULTS:All of the tumors arose in adults, and 10 tumors developed in the subcutaneous tissue of the neck, back, or shoulder girdle. Two patients presented with tumors in atypical locations; one in the tongue and one in the cheek. Cytologically, all 12 tumors were characterized by a mixture of mature adipocytes, uniform spindle cells, and collagen bundles and/or fibers in varying proportions. The presence of a myxoid matrix and of mast cells was less specific and occurred in six aspirates.CONCLUSIONS:SCL has a characteristic cytologic appearance that, together with clinical data, helps to exclude low-grade liposarcoma as well as other spindle cell and myxoid lesions.

We have investigated various modes of adherence of Helicobacter pylori to the human gastric epithelium, using transmission electron microscopy, in biopsies from nine patients with peptic ulcer disease and from four patients with chronic active gastritis. H. pylori was demonstrated in abundance in all cases within the surface mucous layer. In all ulcer‐ and in one out of four gastritis patients H. pylori was shown in close proximity to the gastric epithelium, with concurrent alterations in the configuration of microvilli and the apical cytoplasmic region of gastric cells. Previously described modes of H. pylori adherence were confirmed, such as loose attachment with fibrillar‐like strands, firm attachment with pedestal formation, invasion in the intercellular spaces, and invagination with “cup” formation. Moreover, in many cases a fusion between the bacterial outer layer and gastric cell membranes was evident. In four cases (31%; three with active and one with past ulcer disease) viable H. pylori was found in the cytoplasm of gastric mucous cells. Our results support the hypothesis that the different modes of adherence of H. pylori represent a stepwise, possibly sequential, process which in a significant number of cases leads to internalisation of the organism. The invariable occurrence of adhesion and more frequent internalisation of H. pylori in ulcer patients may suggest a link with the pathogenesis of peptic ulcer disease.

Helicobacter pylori is a pathogen associated with type B gastritis, peptic ulcer disease, gastric atrophy, and stomach cancer. H. pylori exists in two morphological forms, spirals and coccoids. The latter has been described as viable but non-cultivable. The role of the coccoid form in the pathogenesis of gastric disease is disputed. Some authors consider the coccoid form to be a degenerative or dead form of H. pylori, while others consider it a resting but still metabolically active form. This study reports the conversion from spiral to coccoid form ultrastructurally. Dense material is accumulated in the periplasmic space, the spiral bacteria bend and the outer membrane is separated from the inner cell wall layer. Remodeling of inner structures takes place, ending in the coccoid form of the bacteria with preserved light polyphosphate areas. Reduction of surface takes place by production of surface membrane vesicles, which later are squeezed off. The finding of preserved subcellular structures and intact double membranes in combination with degenerative forms suggests that some of the coccoids are viable. Scanning electron microscopy (SEM) demonstrates coccoid form of bacteria with slightly ruffled surfaces but no spiral forms.

A pair of isogenic, nontypeable Haemophilus influenzae strains, one expressing protein D and the other protein D-negative, was compared in their ability to cause damage in a human nasopharyngeal tissue culture model. Damage was assessed by measuring the ciliary beat frequency (CBF) of tissue specimens at 12 h intervals. Cultures inoculated with H. influenzae manifested a decrease in CBF beginning after 12 h, with a maximum decrease after 36 h. The impairment of ciliary function by the protein D—expressing strain was significantly greater than that caused by the protein D—negative mutant (P < .01). Tissue specimens examined by scanning and transmission electron microscopy after 24 h appeared normal. After 48 h of incubation, the protein D—expressing strain caused a significant loss of cilia. These findings suggest that protein D is involved in the pathogenesis of upper respiratory tract infections due to nontypeable H. influenzae, probably by enhancing functional and morphological damage to cilia.

Primary adenocarcinoma of the vulva is rare, and cloagocenic adenocarcinoma of the vulva is extremely rare. Here we report a vulvar tumor characterized by columnar cells with prominent brush border and the presence of goblet cells and endocrine cells, presenting the tubulovillous pattern and mucin histochemistry of enteric adenocarcinoma. Electron microscopy verified a colon-like pattern. We suggest that cloacogenic carcinoma of the vulva arises from embryonic tissue, normally present in the vulvar introital area. In our case, a wide local excision was sufficient for radical cure.

Otolaryngology–Head and Neck SurgeryVolume 117, Issue 2 p. P123-P123 Article The Clinical Significance of the Regulation of Mucociliary Activity in the Upper Airways by Nitric Oxide Sven Lindberg MD, PhD, Sven Lindberg MD, PhD (presenter) Lund, SwedenSearch for more papers by this authorAnders Cervin MD, PhD, Anders Cervin MD, PhD Lund, SwedenSearch for more papers by this author Sven Lindberg MD, PhD, Sven Lindberg MD, PhD (presenter) Lund, SwedenSearch for more papers by this authorAnders Cervin MD, PhD, Anders Cervin MD, PhD Lund, SwedenSearch for more papers by this author First published: 01 August 1997 https://doi.org/10.1016/S0194-59989780211-2Read the full textAboutPDF ToolsExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat No abstract is available for this article. Volume117, Issue2August 1997Pages P123-P123 RelatedInformation

Helicobacter pylori exists in two different morphological forms, spiral and coccoid. This study demonstrated that both forms can infect BALB/c A mice. The animals were inoculated orally three times at 2-day intervals with 108cfu of both spiral and coccoid forms of strain CCUG 17874 (NCTC 11637), strain 25 and strain 553/93. Infection was followed over a 30-week period by histological scoring of the grade of inflammation in gastric biopsies. At each time point sera were collected for analysis in ELISA and immunoblot analysis. Both spiral and coccoid forms of all H. pylori strains gave significantly higher inflammation scores than a control group of animals 1 week after inoculation. The histological evidence persisted throughout the entire 30 weeks. The inflammation was most severe in the pylorus and duodenum. Infection with strain 553/93 displayed the most severe gastritis. The spiral form of strain CCUG 17874 gave an immune response after only 4 weeks, whereas its coccoid form as well as strains 25 and 553/93 (spiral and coccoid forms) gave a significant increase in antibody response in ELISA and immunoblot after 16 weeks. It is concluded that both spiral and coccoid forms of H. pylori can cause acute gastritis in BALB/c A mice.

Rare musculoskeletal tumors can be difficult to diagnose by light microscopy or immunohistochemistry. Electron microscopy can be of diagnostic assistance especially if histotype specific ultrastructural features exist. In particular, electron microscopy for uncommon sarcomas such as alveolar soft part sarcoma, parachordoma, atypical Ewing's sarcoma and epithelioid sarcoma may be the diagnostic modality of choice.

Ileal conduit stenosis was diagnosed in 12 patients in the period 1981-1994. The time between urinary diversion and this diagnosis was 7-30 (mean 14) years. The clinical picture, i.e. colicky flank pain and/or fever, was produced by upper urinary tract obstruction. Intravenous urography, loopography and looposcopy were used in diagnosis. Treatment consisted of removal of the conduit and replacement by a new ileal loop or a continent reservoir, or partial resection with or without ureteric reimplantation. Light microscopy of the removed conduits showed severe, sometimes transmural inflammation with submucosal fibrosis. Transmission electron microscopy (TEM) demonstrated reduced height of microvilli, presence of glycocalyceal bodies and an increased number of lysosomes. Other subcellular structures were intact. The pathogenesis of the stenosis is obscure. Microvascular insufficiency, infection in conjunction with exposure to urine, reaction to some noxious agent in the urine or immunologic causation have been proposed. This late stenosis seems to arise only when ileum is used as conduit. Its insidious course calls for lifelong observation of the upper urinary tracts in these patients.