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A 25-year-old female with history of spontaneous abortion and subsequent birth of Down syndrome child was referred for chromosome analysis. Her karyotype revealed 46, XX with pericentric inversion of 9 qh, while her husband was normal with 46, XY chromosomes. Metaphase analysis of the female showed 20.5% cells with premature centromere division, 4% with endoreduplication, 2% with polyploidy and 9.33% aneuploidy. These frequencies were considerably higher as compared to a normal control. These observations suggest that inv (9qh) might have some interchromosomal effect leading to higher incidence of mitotic disturbances, finally resulting in aneuploidy. This predisposition is evident by spontaneous abortion and later birth of a Down syndrome child.  相似文献   

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A fine needle aspiration specimen from a mass in the thigh of a 25-year-old woman was submitted for cytologic examination. Malignant cells were found singly and in well-defined nests, resulting in an alveolar pattern. Individual cells were large, with moderate amounts of granular cytoplasm and vesicular nuclei with prominent nucleoli. The aspiration cytology findings plus the clinical setting suggested an alveolar soft-part sarcoma. Histologic and electron microscopic examination of the tumor mass confirmed the diagnosis.  相似文献   

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BACKGROUND: Familial alveolar microlithiasis is a rare lung disease. In this study we describe the cytologic features of this disease in bronchoalveolar lavage. CASE: A 10-year-old girl and her uncle, a 50-year-old man, had dyspnea and diffuse interstitial pattern on chest radiograph with no defined cause at a period of 10 years apart. Open lung biopsy in the girl and transbronchial lung biopsy plus bronchoalveolar lavage (BAL) in the man were per-formed to determine the diagnosis. In cyopen lung biopsy the diagnosis was alveolar microlithiasis. BAL revealed rehtypical microliths (calcospherites), and th transbronchial lung biopsy performed in the same patient failed to disclose superficially reset any significant pathology. In cytologic a smears, extracellular and intracellular concentrically layered purple-brown, round-to-oval microliths were clearly seen. Cyanophilic periodic acid-Schiff positive intracytoplasmic amorphous material was also frequently seen in alveolar macrophages. CONCLUSION: Familial alveolar microlithiasis is a rare interstitial lung disease that can be easily diagnosed by BAL. This procedure is a very useful tool in diagnosing and classifying some interstitial lung diseases.  相似文献   

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BACKGROUND: Human immunodeficiency virus (HIV) infection and resulting acquired immunodeficiency syndrome (AIDS) may involve virtually every organ system, including the endocrine glands. Thyroid dysfunction most commonly reflects advanced disease and generally resembles euthyroid sick syndrome. Rarely do opportunistic infections, hemorrhage, neoplasms and drugs account for alterations in thyroid tissue. Multiple lymphoepithelial cysts of parotid gland and thymus have been identified, but similar findings in thyroid gland have not been reported. CASE: A 41-year-old, HIV-seropositive woman, asymptomatic for seven years, developed a squamous cell carcinoma of the cervix with local-regional extension. At the same time, bilateral complex thyroid cysts and high titers of antimicrosomal antibodies (1/6,400) were detected. Ultrasound-guided fine needle aspiration biopsy of the thyroid showed a heterogeneous lymphocytic population with a reactive appearance and occasional groups of epithelial cells with an immature squamous pattern, along with cytologic features of autoimmune thyroiditis. Immunocytochemistry was positive for CD20, CD3 and CD5. Immunoglobulin heavy chain gene rearrangement by polymerase chain reaction from cytologic material showed a polyclonal lymphoid population. External radiotherapy resulted in a significant reduction in the pelvic lesion. Four months after diagnosis, abdominal ultrasound displayed multiple hepatic metastasis, the patient's condition rapidly deteriorated, and she died about a month later. CONCLUSION: This case had unique features and probably represented an AIDS-related lesion and distinct entity.  相似文献   

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Alveolar soft-part sarcoma primary in the vagina is an exceptionally rare neoplasm. The cytologic features in a case of this rare sarcoma are described, with a discussion of the differential diagnosis. Structures suggestive of the characteristic PAS-positive, diastase-resistant cytoplasmic crystals were seen in the cytologic specimen; the crystals were well-demonstrated in the histologic material and at the electron microscopic level.  相似文献   

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The purpose of the present research was: 1. To investigate the opportunity of application of allogen osteoplastic materials such as Lioplast, received in Samara Tissue Bank of Samara State Medical University. 2. To work out a new technique of producing lyophilized allogen osteoplastic materials, such as Lioplast, with application of an ultrasonic method of clearing. 3. The development of various techniques of operative intervention on jaws for increase in volume of atrophied, as a result of secondary adentia, alveolar shoot. 4. The application of spongy allogen osteoplastic material as a skeleton for filling in surgical operations on jaws. 5. The demonstration of the Technique of a bone-periostic Lioplast 'sandwich' for formation of an alveolar shoot.  相似文献   

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Ocular malformations associated with agnathia in a 34-week gestational age infant were studied histopathologically and included asymmetric microphthalmos. Aphakia and retinal dysplasia were noted in the most severely affected globe; the fellow eye was characterized by microcornea, anterior segment dysgenesis, uveal colobomas, and retinal dysplasia. Aplasia of the optic nerve was seen bilaterally. The combination of agnathia and ocular malformation in the absence of holoprosencephaly is challenging to explain embryologically.  相似文献   

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Canda T  Ozkal S  Ozer E 《Acta cytologica》2001,45(3):441-444
BACKGROUND: Curschmann's spirals, first described more than 100 years ago, are common in cytologic specimens from the respiratory tract and have also been observed in cervical smears, urine, and peritoneal and pleural effusions. No simple theory can explain the exact mode of spiral formation, which is presumed to be a complex physical and biochemical phenomenon. CASE: A 29-year-old woman, gravida 2, para 2, underwent right ovarian cyst excision after an abdominal ultrasound examination revealed a cystic mass of the right ovary. Histologically, the cyst was an immature cystic teratoma containing respiratory epithelium with mucous glands in the submucosa. Cytologic examination of the cyst fluid showed the presence of Curschmann's spirals. CONCLUSION: To the best of our knowledge, the formation of Curschmann's spirals associated with an immature cystic teratoma has not been previously reported. In this situation, the presence of spirals could be explained by formation from mucus normally found in that environment.  相似文献   

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BACKGROUND: High grade squamous intraepithelial lesion (HSIL) of the cervix is well known to be associated with human papillomavirus (HPV) infection. HSIL and invasive carcinomas occurring synchronously in genital malformations, such as a double cervix, have been reported. It has been postulated that the field effect phenomenon of HPV infection is responsible for this synchronous infection. However, there is no information in the literature on the specific types of HPV causing the concomitant lesions in cases with a double cervix. CASE: A 33-year-old nulligravida with a double cervix and a single uterine corpus was diagnosed with bilateral HSIL on Papanicolaou-stained ThinPrep slides (Cytyc Corp., Boxborough, Massachusetts, U.S.A.). A bilateral loop electrosurgical excision procedure cone biopsy revealed HSIL involving both cervices. DNA extracted from the HSIL lesions was analyzed by a polymerase chain reaction-based assay for the presence of HPV. High-risk HPV type 33 was identified in the right cervix, while HPV type 35 was present in the left. CONCLUSION: Demonstration of high-risk HPV types bilaterally supported the etiologic role of HPV infection in the synchronous and bilateral occurrence of HSIL in this case of a double cervix. The HPV types were different in the right and left cervices.  相似文献   

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A live 22-week-old cyclops fetus with a 69 XYY chromosome pattern and partial hydatidiform mole of the placenta is reported. Although cyclopia and chromosomal triploidy have certain features in common they appear to be two quite distinct entities. As no other 69 XYY fetus has survived to 22 weeks gestation and no other case of cyclopia has been reported with a triploid set of chromosomes, the assumption that the two conditions occurred coincidently in this fetus will have to await the accumulation of additional case reports.  相似文献   

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We experienced a case of a 3-year-old boy who presented signs and symptoms of Kawasaki syndrome. Two blood culture sets were processed by the hospital microbiology laboratory using a standard blood culturing system. The anaerobic bottles gave a positive result at day 3 after inoculation. The biochemical profiles produced by the RapID ANA II System showed that the organism was Clostridium baratii with a probability of 99%. Our case highlights the importance of C. baratii as a potential human pathogen and reports the associations with manifestations, which, to our knowledge, have not been previously described concomitantly with a clostridial infection.  相似文献   

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BACKGROUND: Alveolar soft part sarcoma is a rare soft tissue tumor of uncertain origin usually affecting young adults. This neoplasm has early metastatic potential. Its cytologic features, particularly when presenting with metastases, have rarely been described. CASE: A 23-year-old male presented with shortness of breath and scapular pain. Routine chest roentgenograms revealed multiple lung nodules. Malignancy was established by percutaneous fluoroscopically guided fine needle aspiration on a lung nodule. Possible metastatic alveolar soft part sarcoma was suggested by cytology among few considerations in the differential diagnosis. Alveolar soft part sarcoma was confirmed by lung core biopsy and further supported by immunohistochemistry and electron microscopy. Tumor cells expressed muscle-specific actin and myoglobin, and contained diastase-resistant inclusions with periodic acid-Schiff stain. Ultrastructurally, peculiar, elongated intracytoplasmic crystalline bodies typical of this neoplasm were identified. A meticulous clinical search led to finding the primary tumor deeply located in the right posterior thigh. CONCLUSION: Aspiration cytology is a reliable, cost-efficient technique in the diagnostic workup of masses suspicious for malignancy.  相似文献   

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BACKGROUND: Alveolar soft part sarcoma (ASPS) is a rare soft tissue tumor. It has characteristic histomorphology, with typical ultrastructural features demonstrating unique crystalloids. It occurs predominantly in adolescents and young adults, in whom the most common location is within the fascial planes of skeletal muscle of the lower extremity. CASE: We present fine needle aspiration biopsy (FNAB) findings along with histopathologic features and ultrastructural appearance of a large gluteal mass in a 29-year-old female. FNAB cytology smears showed single and small groups of polyhedral malignant cells with granular cytoplasm, anisokaryosis and prominent nucleoli. The delicate cytoplasm had a tendency to rupture, with the presence of many bare nuclei. The characteristic crystals were observed in Papanicolaou-stained smears within the cytoplasm and in the background near the tumor cells. This consolidated the radiologic suspicion of ASPS and facilitated the application of relevant ancillary tests. Biopsy of the mass showed the characteristic histologic pattern. Electron microscopy confirmed the diagnosis with demonstration of membrane-bound, rhomboid crystalloids with a latticelike ultrastructure. CONCLUSION: Detection of characteristic crystalloids in Papanicolaou-stained FNAB smears facilitated a proper evaluation and correct diagnosis of ASPS.  相似文献   

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BACKGROUND: Osteosarcomas, despite their aggressive nature and propensity to metastasize, only rarely give rise to skin deposits. CASE: We report a case of a femoral osteosarcoma in which cutaneous scalp and neck metastases developed 3 years after treatment of the primary disease. Fine needle aspiration was pivotal in diagnosing the secondary disease. CONCLUSION: Only 8 instances of cutaneous metastases from an osteosarcoma have been previously reported. We recommend early investigation of such nodules with fine needle aspiration cytology and inclusion of multiagent chemotherapy as part of the treatment protocol in all patients with osteosarcoma.  相似文献   

20.
To study the possible role of an "increased thrombotic tendency" in the vascular complications of diabetes several tests of haemostatic function were carried out on 91 men and 63 women with diabetes aged 35-54 years and the results compared with findings in 686 men and 393 women of the same age in the Northwick Park Heart Study. Mean values for factors VII and X, fibrinogen, and platelet adhesiveness were higher in the diabetics, but mean fibrinolytic activity and whole blood platelet counts were lower. Antithrombin III values were also higher in the diabetics, which may have constituted a protective response to other changes favouring the onset of vascular disease. Diabetics with retinopathy had higher factor VII and antithrombin III values, and those with proteinuria had higher values for factor VII, fibrinogen, and platelet adhesiveness than those without these complications. These findings suggest a potentially important association between a thrombogenic tendency and vascular disease in diabetes. Nevertheless, prospective data are needed to clarify whether the haemostatic abnormalities precede the onset of clinically manifest vascular complications or are a consequence of them.  相似文献   

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