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Pathological significance of first-trimester fetal nuchal oedema.

The pathological mechanism that causes the transient phenomenon sonographically defined as "nuchal translucency' is still poorly understood. Seven pregnancies in which the fetuses clearly presented this ultrasonic sign at 10-14 weeks' gestation were terminated because of an abnormal fetal karyotype. The pathological specimens, compared by morphometric analysis with normal fetuses of the same gestational age, showed oedema and dilatation of lymphatic capillary vessels. No particular relationship was found with any structural abnormality. We speculate that nuchal oedema is a transient non-specific phenomenon which is probably related to an early disarrangement of lymphatic connections.

Aneuploidy↗

Cystic malformations of the neck in children.

The most common cystic malformations of the neck are the result of abnormal embryogenesis involving the thyroglossal duct (TGD), lymphatic primordia and the branchial apparatus. When the basic embryology of these structures is considered, a reasonable differential diagnosis-and in some cases a definitive diagnosis-can be achieved based on the location and the imaging characteristics of the cystic mass.

Branchioma↗

Primary chylopericardium.

To evaluate the surgical treatment of primary chylopericardium, 2 cases of primary chylopericardium are described and previous case reports are reviewed. Enhanced computed tomography combined with lymphangiography is a very reliable diagnostic tool for identifying abnormalities of the thoracic duct and its lymphatic channels connecting to the pericardium. When the course of the thoracic duct was identified exactly, ligation and resection of the thoracic duct with establishment of a pericardial window proved to be the most effective surgical procedure. Because the thoracic duct and the pericardium can be exposed easily, left thoracotomy seems to be the most preferable approach for the operation.

Adolescent↗

Correlation of lymphoscintigraphy with the number of sentinel lymph nodes identified intraoperatively in patients with breast cancer.

BACKGROUND: Numerous studies have evaluated the benefit of performing lymphoscintigraphy for the sentinel lymph node procedure in breast cancer patients. The purpose of this study is to determine if lymphoscintigraphy accurately predicts the number of radioactive sentinel lymph nodes (SLNs) identified during surgery for breast cancer patients. METHODS: From October 2001 to June 2004, SLN biopsy was attempted in 112 patients with breast cancer using a combination of blue dye and radioisotope. Lymphoscintigraphy was performed in 98 of the patients. A lymph node was considered an SLN when it was stained with blue dye, had a blue lymphatic afferent, had increased radioactivity, or was abnormal by palpation. RESULTS: Lymphoscintigraphy accurately predicted the number of radioactive SLN identified intraoperatively in 47 patients. In 44 of the patients who did not have concordance, there were more SLN identified intraoperatively than were seen on lymphoscintigraphy. In the other 8 patients, there were fewer SLN identified intraoperatively than seen on lymphoscintigraphy. CONCLUSIONS: Lymphoscintigraphy accurately predicted the number of SLN identified intraoperatively in only 47% of the patients in this study. In a majority of the patients in whom the lymphoscintigraphy was not concordant, the number of SLN identified intraoperatively was underestimated. Thus, although lymphoscintigraphy is beneficial in showing that at least 1 radioactive SLN will be identified intraoperatively, it does not accurately predict the number.

Axilla↗

Ephrin-B2 controls cell motility and adhesion during blood-vessel-wall assembly.

New blood vessels are initially formed through the assembly or sprouting of endothelial cells, but the recruitment of supporting pericytes and vascular smooth muscle cells (mural cells) ensures the formation of a mature and stable vascular network. Defective mural-cell coverage is associated with the poorly organized and leaky vasculature seen in tumors or other human diseases. Here we report that mural cells require ephrin-B2, a ligand for Eph receptor tyrosine kinases, for normal association with small-diameter blood vessels (microvessels). Tissue-specific mutant mice display perinatal lethality; vascular defects in skin, lung, gastrointestinal tract, and kidney glomeruli; and abnormal migration of smooth muscle cells to lymphatic capillaries. Cultured ephrin-B2-deficient smooth muscle cells are defective in spreading, focal-adhesion formation, and polarized migration and show increased motility. Our results indicate that the role of ephrin-B2 and EphB receptors in these processes involves Crk-p130(CAS) signaling and suggest that ephrin-B2 has some cell-cell-contact-independent functions.

Animals↗

Lymphangioleiomyomatosis.

Lymphangioleiomyomatosis (LAM), a rare disorder of unknown cause that occurs almost exclusively in women of childbearing years, is characterized microscopically by abnormal smooth muscle proliferation in the lung, lymphatics, and mediastinal, abdominal and lower cervical lymph nodes. LAM is associated with progressive dyspnea, recurrent pneumothoraces, chylous effusions, abdominal tumors (angiomyolipoma), and chylous ascites. Because of the predilection of this disease for young women, therapies to date have mainly involved hormonal manipulation. Although the efficacy of these therapies has not been established, the clinical course is more favorable in recent studies compared with earlier reports.

Adult↗

Hemangiomas and vascular malformations in infants and children: a classification based on endothelial characteristics.

Forty-nine specimens from a variety of vascular lesions were analyzed for cellular characteristics. Two major categories of lesions emerged from this investigation: hemangiomas and vascular malformations. This classification and its implications are justified by several considerations. Hemangiomas in the proliferating phase (n = 14) were distinguished by (1) endothelial hyperplasia with incorporation of [3H]thymidine, (2) multilaminated basement membrane formation beneath the endothelium, and (3) clinical history of rapid growth during early infancy. Hemangiomas in the involuting phase (n = 12) exhibited (1) histologic fibrosis and fat deposition, (2) low to absent [3H]thymidine labeling of endothelial cells, and (3) rapid growth and subsequent regression. The endothelium in hemangiomas had many characteristics of differentiation: Weibel-Palade bodies, alkaline phosphatase, and factor VIII production. Vascular malformations (n = 23) demonstrated no tritiated thymidine incorporation and normal ultrastructural characteristics. These lesions were usually noted at birth, grew proportionately with the child, and consisted of abnormal, often combined, capillary, arterial, venous, and lymphatic vascular elements. This cell-oriented analysis provides a simple yet comprehensive classification of vascular lesions of infancy and childhood and serves as a guide for diagnosis, management, and further research.

Adolescent↗

Protein-losing enteropathy due to intestinal lymphangiectasia accompanied by mesenteric lymph node fibrosis.

An autopsy case of a 74-year-old man suffering from edema in the legs and diagnosed as protein-losing enteropathy due to intestinal lymphangiectasia is presented. He underwent a radical operation and radiotherapy for esophageal carcinoma at age 65 years and the onset of protein-losing enteropathy was at age 70. Postmortem examination disclosed widespread abnormalities of the duodenal and small intestinal lymphatics and mesenteric lymph node fibrosis. The mucosal lymphatic capillaries were markedly dilated. In the submucosal and serosal layers, the lymphatic vessels showed marked dilatation in some areas and fibrous occlusion with very thick muscle layers in others. All these lymphatic changes were presumed to be attributable to a reactive process secondary to lymph congestion, which it is suggested, was caused by the mesenteric lymph node fibrosis.

Aged↗

Cytologic finding of chyloascites in lymphangioleiomyomatosis. A case report.

BACKGROUND: Lymphangioleiomyomatosis is a rare disease, histologically characterized by an abnormal proliferation of smooth muscle around the lymphatics. Lung is the most common site of involvement, and patients usually present with dyspnea, chest pain, and cough. Chylous pleural effusion and ascites occasionally appear during the course of the disease. There are only a few reports on the cytologic findings in this disease. To our knowledge, the cytologic findings of chylous pleural effusion and chyloascites have not been reported before. CASE: A 23-year-old female presented with chylothorax, chyloascites and a retroperitoneal mass. Cytologic examination of chylous pleural effusion and chyloascites revealed numerous cohesive and thick clusters of cells with a high nuclear/cytoplasmic ratio, oval nuclei and slightly increased chromatin content. Mitosis and necrosis were not observed. Exploratory laparotomy and transbronchial lung biopsy were performed, and the histologic diagnosis was lymphangioleiomyomatosis involving the retroperitoneal lymph nodes, uterine fundus and lungs. Immunohistochemistry showed that the characteristic clusters in chylous fluids were positive for alpha-smooth muscle actin. CONCLUSION: A diagnosis of lymphangioleiomyomatosis is possible from cytologic findings of effusions with the aid of clinical findings.

Adult↗

Distinction of differentiated type early gastric carcinoma with gastric type mucin expression.

BACKGROUND: Intestinal and diffuse gastric carcinomas differ in morphology and growth behavior. Differentiated type gastric carcinoma (DGC), which corresponds roughly with the intestinal type of Lauren, can demonstrate phenotypic properties associated with mucin expression and brush border. However, their clinical significance is controversial. A classification based on mucin phenotype and brush border was performed to determine the clinicopathologic diversity of DGCs in their early stage. METHODS: A total of 120 specimens from 116 DGC patients with definite submucosal invasion were evaluated both macroscopically and histologically. All sections were examined immunohistochemically with human gastric mucin, Muc-2, and CD10 and with mucin histochemically with paradoxical concanavalin A staining and high iron Diamine-Alcian Blue. They were classified into gastric type (G-type), intestinal type (I-type), mixed gastric and intestinal type (M-type), or null type (N-type) phenotypes. The immunoreactivity of E-cadherin and beta-catenin also was investigated to determine the correlation between mucin phenotype and clinicopathologic factors. RESULTS: The G-type phenotype was found to be in contrast to I-type: G-type was an independent factor associated with lymph node metastasis. Significant correlations were observed between the G-type phenotype and the complex type carcinoma found that was histologically: lymphatic invasion, lymph node metastasis, and the abnormal expression of E-cadherin. A significant difference in the proportion of mucin phenotypes between papillary type and tubular type carcinoma was observed. G-type was found to be the predominant phenotype in papillary carcinoma in contrast to tubular carcinoma. CONCLUSIONS: The G-type mucin phenotype and papillary adenocarcinoma should be distinguished from other types of DGCs because of their increased malignant potential in the incipient phase of invasion and metastasis. The significance of G-type and papillary adenocarcinoma should be reflected in the treatment of patients with early stage DGCs, including endoscopic mucosal resection.

Adenocarcinoma↗

Functional lymphatic alterations in patients suffering from lipedema.

Lipedema is a chronic vascular disease almost exclusively of female sex, characterized by the deposit of fat on the legs, with an "Egyptian column" shape, orthostatic edema, hypothermia of the skin, alteration of the plantar support, and negativity of Stemmer's sign. The etiology and pathogenesis of this disease are still the object of study, and therapy is very difficult. Various authors have described morphologic and functional alterations of prelymphatic structures and of lymphatic vessels. The big veins remain untouched in the phlebograms and an alteration of the skin elasticity is demonstrated. The present authors have studied by dynamic lymphoscintigraphy 12 women patients suffering from lipedema, and compared the results with those of 5 normal subjects and 5 patients suffering from idiopathic lymphedema who were sex and age matched with the patients suffering from lipedema. The patients suffering from lipedema showed an abnormal lymphoscintigraphic pattern with a slowing of the lymphatic flow that presented some analogies to the alterations found in the patients suffering from lymphedema. A frequent asymmetry was also noticed in the lymphoscintigraphic findings that is in contrast to the symmetry of the clinical profile.

Adipose Tissue↗

Iliopelvic radionuclide lymphoscintigraphy in patients with testicular cancer.

The utility of iliopelvic lymphoscintigraphy was assessed in 21 patients with testicular cancer (six seminoma patients, 15 nonseminoma patients). Normal lymphoscintiscans demonstrated symmetric uptake of technetium-99m-labeled radiocolloid throughout the lymphatic chain, from the internal iliac nodes to the level of the renal hilum. Signs of abnormality included decreased or no uptake of radionuclide in consecutive nodes of a lymphatic chain or in an entire lymphatic chain, and diminished uptake at the level of the renal hilum. In the 15 patients with nonseminomatous germ cell cancer, correlation of the results of scanning with pathologic specimens obtained upon dissection of retroperitoneal lymph nodes revealed a sensitivity of 0.89 and a specificity of 0.83. In the six patients with seminoma, there was good correlation between scan findings and results of other radiologic tests. This study suggests that iliopelvic lymphoscintigraphy is a sensitive means of determining whether lymph node metastases are present in patients with testicular cancer.

Abdomen↗

Impaired peritoneal fluid drainage in nephrogenic ascites.

In three chronic hemodialysis patients with nephrogenic ascites and in four patients with ascites of other causes the rate of transfer of fluid from peritoneal cavity to plasma was measured by a radio-labelled albumin method. Ascitic fluid removal rate was lower in the patients with nephrogenic ascites (median 14, range 10 to 21 ml/hr) than in those with normal renal function (median 45, range 10 to 73 ml/hr). These results suggest that lymphatic drainage of the peritoneum is impaired in nephrogenic ascites and that this may contribute to the development of the condition and to the propensity of fluid overloaded dialysis patients to develop ascites. A retained substance or one liberated from abnormal kidneys may be responsible for reversible depression of lymphatic flow in uremia.

Adult↗

Genetic abnormalities associated with nodal metastasis in head and neck cancer.

BACKGROUND: Lymphatic metastasis represents the single most important clinical prognostic factor in head and neck squamous cell carcinoma (HNSCC), but underlying genetic mechanisms remain ill defined. Genetic differences between primary carcinomas and their corresponding metastases might form a key to understanding the metastatic phenotype. In this study we aimed to characterize such differences using a genome-wide screening measure. METHODS: Four human cell lines (MDA-686tu, MDA-686Ln, MDA-1386tu, MDA-1386Ln) derived from primary tumor and synchronous lymph node metastasis of two cases of metastatic HNSCC were subjected to comparative genomic hybridization (CGH) by differentially labeling DNA from tumor tissue and normal tissue with fluorescent agents. The labeled DNAs were simultaneously hybridized onto normal metaphase chromosomes. In addition, modified CGH was performed by directly hybridizing labeled primary tumor DNA against differentially labeled metastatic tumor DNA, allowing the direct detection of copy number differences in individual pairs. Image analysis for fluorescence intensity along the entire length of each metaphase chromosome allowed generation of a color ratio, which was used to detect copy number changes. RESULTS: In both cases, significant overlap was found between chromosomal aberrations present in the primary tumor and the corresponding nodal metastasis. However, several abnormalities differentiated primary tumors from their metastases. Modified CGH identified several genetic aberrations that were not detectable with the conventional CGH analysis. Gains at chromosomes 10p11-12 and 11p and deletions at chromosomes 4q22-31, 9p13-24, and 14q differentiated nodal metastases from the corresponding primary tumors in both cases. CONCLUSIONS: The combination of conventional and modified CGH analyses facilitates the identification of DNA copy number changes that might be involved in the development of a metastatic phenotype. Future research should aim at the identification of the genes involved at the identified sites of chromosomal aberration.

Aged↗