Benign familial hematuria associated with a novel COL4A4 mutation.

We describe a father and three offspring with hematuria. The father and one girl also complained of flank pain. Renal function tests and ophthalmological examinations were normal in all. The father had very mild neural deafness. The renal biopsy samples of two affected siblings showed changes compatible with thin basement membrane disease. Genetic analysis revealed a novel missense mutation in exon 32 of COL4A4 to be responsible for the phenotype in this family. We suggest that thin basement membrane disease may have overlapping clinical features with other causes of hematuria; genetic analysis may help in the differential diagnosis and help us further understand the disease processes.

Long-term effects of extraluminal dilatation with a rigid circle on arteriovenous anastomotic line in venous grafts transposed into arterial defects.

Postanastomotic narrowing resulting from subintimal hyperplasia is a well-known phenomenon. In the current study the authors compared a metallic circle and conventional suture technique in anastomoses performed in two ends of external jugular vein grafts interposed in carotid arteries of rabbits. They recorded the patency rates, fluid flow rates, and histological effects of the circle on the anastomotic line and compared them with conventional suture anastomoses. In 16 rabbits (experimental group) a standard suture was used in both ends of the jugular vein graft transposed to the carotid arteries on one side. On the other side, circle anastomoses were performed on both ends of the vein graft. In an additional 8 rabbits (control group), the anterior jugular veins and carotid arteries were dissected on both sides and left. During postoperative week 12, in 8 rabbits of the experimental group, the flow rates of carotid arteries were measured in vitro, and intraluminal silicone casts were prepared. In the remaining 8 experimental rabbits, carotid angiographies were performed and anastomotic segments were harvested for histological examination. Flow rates were also measured in the control group, and artery and vein segments were harvested. The patency rates of the vein grafts with metallic circle anastomoses were 100%, whereas conventional suture patency was 75% at week 12. Flow rates were significantly higher in the metallic circle-anastomosed vein grafts (74 ml per minute vs. 123 ml per minute, mean values; p < 0.05). Histological examination revealed reduced intimal thickness in the metallic circle anastomoses compared with conventional suture anastomoses. Dilatation of the arteriovenous end-to-end anastomotic line by a rigid circle prevents anastomotic narrowing in the long term.

Epidermolysis bullosa acquisita: clinical manifestations, microscopic findings, and surgical periodontal therapy. A case report.

BACKGROUND: Epidermolysis bullosa acquisita (EBA) is an uncommon, acquired, chronic subepidermal bullous disease. This report describes a case of EBA with gingival involvement. A 43-year-old woman with EBA was referred to our clinic for periodontal therapy because of gingival tenderness and bleeding. She has been on cyclosporin A therapy for the last 2 years. METHODS: Clinical findings were analyzed. Anterior gingivectomy operations were performed in 2 stages. The samples obtained during the surgery were examined using histopathologic, immunohistologic, and electronmicroscopic methods. Long-term effects of the surgical periodontal treatment on gingiva were evaluated both clinically and microscopically. RESULTS: The dentition displayed minimal enamel hypoplasia. Decayed, missing, and filled surfaces score was found to be elevated. Periodontal examination showed generalized diffuse gingival inflammation and gingival enlargement localized mainly to the anterior region. Nikolsky's sign was positive. However, wound healing was uneventful after the operations. Microscopic findings were similar to those obtained from the skin. Twenty-one months after the operations, Nikolsky's sign was negative and no remarkable gingival inflammation was noted. Microscopic examination revealed that the blisters were fewer in number and smaller in size. CONCLUSIONS: These results indicate that gingival tissues may also be involved in EBA. Uneventful wound healing after periodontal surgery in this case suggests that periodontal surgery can be performed in patients with EBA. Moreover, both our clinical and histopathologic findings imply that gingivectomy proves useful in maintaining gingival integrity in these patients. Our data may also suggest that the patients with EBA are highly likely to develop dental caries.

An unusual fetus with complete absence of thoracic, lumbar and sacral vertebrae, bilateral renal agenesis, VSD, meningomyelocele, imperforate anus, and teratoma.

We present a 30 week old male fetus who had a very interesting malformation complex which can not be explained by teratogenic or hereditary diseases. The aim of this paper is to discuss this complicated entity and compare it with other reported cases.

Mature ovarian teratoma as a possible cause of fever and clinical exacerbation in Behçet's disease: a case report.

Abstract Behçet's disease (BD) is a chronic relapsing systemic vasculitis of unknown etiology. BD is very rarely associated with neoplastic diseases. We report the case of a 39-year-old woman who had been treated for BD for 3 years. She presented with relapsing oral and genital lesions and persistent high-grade fever which had lasted for 1 month. The possible cause of the exacerbation of BD and fever in this patient was a mature ovarian teratoma. To our knowledge this is the first report of a patient with BD associated with a ovarian teratoma.

Dermatofibrosarcoma protuberans metastasizing to cavernous sinuses and lungs: a case report.

Dermatofibrosarcoma protuberans (DFSP) is a locally aggressive tumor with a low potential for distant metastases. We report a 22-year-old female patient with a typical cutaneous DFSP who developed five local recurrences followed by left cavernous sinus metastasis at the eighth year and right cavernous sinus and lung metastases at the ninth year. In each local recurrence the tumor showed histological signs of progression as being more cellular, having higher mitotic index and being aggressively invasive through the underlying soft tissues. The histopathological evaluation of the metastatic tumor resected from the left cavernous sinus revealed dedifferentiation from low-grade DFSP to higher grade fibrosarcomatous morphology. Immunohistochemical studies of the primary tumor and also the recurrent and metastatic tumors showed diffuse CD34 positivity in all specimens and p53 positivity was detected in the metastatic tumor resected from left cavernous sinus.

Lack of angiotensin II-facilitated erythropoiesis causes anemia in angiotensin-converting enzyme-deficient mice.

While nephrologists often observe reduced hematocrit associated with inhibitors of angiotensin-converting enzyme (ACE), the basis for this effect is not well understood. We now report that two strains of ACE knockout mice have a normocytic anemia associated with elevated plasma erythropoietin levels. (51)Cr labeling of red cells showed that the knockout mice have a normal total blood volume but a reduced red cell mass. ACE knockout mice, which lack tissue ACE, are anemic despite having normal renal function. These mice have increased plasma levels of the peptide acetyl-SDKP, a possible stem cell suppressor. However, they also show low plasma levels of angiotensin II. Infusion of angiotensin II for 2 weeks increased hematocrit to near normal levels. These data suggest that angiotensin II facilitates erythropoiesis, a conclusion with implications for the management of chronically ill patients on inhibitors of the renin-angiotensin system.

Search for problem areas in endometrial biopsies to achieve quality assurance.

The aim of this study was to underline the frequently seen problems in diagnosing the lesions seen in the hyperplasia-carcinoma sequence by evaluating the variances between the observers. Four pathologists re-evaluated 137 endometrial biopsies and grouped them into diagnostic categories. The results were analyzed by Kappa statistics. Full agreement was reached in 89 cases (64.96%), with Kappa values ranging between 0.63-0.74. Three observers rendered the same diagnosis in 34 (24.81%) cases, and only one pathologist disagreed. Two or more observers held different views in 16 cases (10.95%). The problem areas were as follows: criteria distinguishing simple hyperplasia from other benign lesions, discrimination between atypical hyperplasia and carcinoma, and decision-making regarding the presence of atypia. There was a tendency towards overdiagnosis of hyperplasia in our department. Since the progression to carcinoma is a sequential event, borderline cases will exist if categories based on simple and clear cut off points are not defined.

Clinicopathological implication of cripto expression in early stage invasive cervical carcinomas.

This study evaluates the expression of cripto (CR-1) protein in matched sets of non-neoplastic cervical epithelium, primary cervical carcinoma and metastatic tumours in the lymph nodes to investigate its role in uterine cervical cancer development and progression. Ninety-four primary cervical carcinomas in an early clinical stage and having the same surgical treatment modality were analysed. Immunoreactivity in the primary tumour was compared with that of non-neoplastic cervical epithelium and metastatic lymph nodes. The conventional clinicopathological prognostic variables for cervical carcinomas such as grade, tumour size, depth of invasion, parametrial and endometrial extension, lymphovascular space involvement and lymph node metastasis status were also compared with CR-1 expression of the primary tumour. Strong CR-1 immunopositivity was significantly correlated with tumour size and lymphovascular space involvement (P < 0.05). Furthermore, a significant relationship was found between CR-1 immunoreactivity and endometrial extension as well as parametrial involvement (P < 0.05). Interestingly, the CR-1 expression level was increased in metastatic lymph nodes compared with their primary tumours. These results suggest that CR-1 may contribute to disease progression in cervical carcinomas.

Insights derived from ACE knockout mice.

The evaluation of ACE knockout mice has illustrated the tremendous physiologic importance of the RAAS. We have discussed how interruption of this system influences blood pressure, renal function, renal development, serum and urine electrolyte composition, haematocrit and male reproductive capacity. This body of data underlines the modelling of the RAAS as a type of biological machine that is positioned to respond to environmental insult and to maintain a homeostasis of blood pressure, blood volume and electrolyte composition. These data also emphasise Harry Goldblatt's seminal observation that the kidney and the RAAS are intimately linked in the regulation of normal blood pressure.

Postoperative topical mitomycin C in conjunctival squamous cell neoplasia.

PURPOSE: To report the efficacy of topical mitomycin C in preventing local recurrences after incomplete surgical excision of conjunctival squamous cell neoplasia. METHODS: Four patients presented with unilateral conjunctival tumors. Excisional biopsy results revealed conjunctival intraepithelial neoplasia with an intact basement membrane. Neoplastic cells were present in at least one of the surgical borders of the excised conjunctiva in all four cases. Patients were treated with topical mitomycin C 0.02% three times daily for 2 weeks to prevent recurrences. RESULTS: All four patients were free of clinically detectable tumors after a mean follow-up period of 20 months (range, 16-23 months). Side effects included mild discomfort, redness, photophobia, and punctate epithelial keratopathy that subsided on discontinuation of the medication. CONCLUSION: Postoperative topical mitomycin C application may be a useful adjunct to prevent recurrences in patients with incompletely excised conjunctival squamous cell neoplasia.

Immunolocalization of phospholipase C isoforms in rat kidney.

BACKGROUND: Phospholipase C (PLC) is an important factor in signal transduction because this enzyme is activated by several hormones and growth factors. Eight PLC isoforms have been described raising the possibility that different cells express a single isoform or activate specific isoforms in different cells. Therefore, the goal of this study was to determine which PLC isoforms are expressed in specific regions of rat kidney. METHODS: Western blot analysis was performed in microdissected nephron segments of rat kidney, while immunohistochemical analysis was performed on whole rat kidney slices using PLC isoform-specific antibodies. RESULTS: All three families of PLC isoforms (beta, gamma, and delta) were present throughout the cortical and medullary regions of the kidney. Only the PLC-beta1 isoform was observed in the brush border of the proximal tubule, but all isoforms were present in glomeruli and in the cytoplasm of tubular epithelial cells. In addition, only the PLC-gamma1 isoform was expressed in the internal elastic lamina of the renal artery, while vasa recta expressed PLC-beta1 most intensely. Medullary thick ascending limbs showed an intense level of expression of all three isoforms. CONCLUSION: Multiple PLC isoforms are present in glomeruli, renal tubules, and renal vasculature in vivo, but with some segment-specific differences. These findings suggest that the response of a specific cell is not determined by expression of only one PLC isoform, with the exception of the brush border of the proximal tubule and the renal arteries. Instead, the presence of multiple PLC isoforms in specific regions of the kidney suggests that hormonal regulation in vivo involves mechanisms beyond cell-specific isoforms of PLC.

Fibrosarcoma following radiotherapy for breast carcinoma: a case report and review of the literature.

The 17 patients with fibrosarcoma occurring after radiotherapy for breast carcinoma reported in the literature are the disastrous results of a treatment modality. All the reports concerning the sarcomas share the same feature-aggressive nature with a latent period of 4 years or more. A patient report of fibrosarcoma occurring 2 years after radiotherapy for breast carcinoma with the shortest latent period in the literature is presented and the literature is reviewed. The tumor was localized within an irradiated area and there was a clear histological distinction between the previous and current tumors. The tumor was found to encase the axillary artery and the brachial plexus. For a curative resection, a forequarter amputation was performed and the defect was closed by means of a posterior arm flap. Despite the aggressiveness of the tumors the patient had no distant metastases 1 year after the diagnosis of fibrosarcoma.

nm23 expression in carcinoma of the uterine cervix.

To evaluate the significance of nm23 protein expression in cervical carcinoma, 83 patients with stage IB disease, treated primarily with surgery were studied immunohistochemically. Of the cases 57 were squamous carcinoma, 9 were adenocarcinoma, 14 were adenosquamous carcinoma and 3 were small-cell carcinoma. nm23 expression was positive in 63% of the cases. Although positive expression was more common in squamous and adenosquamous type tumors, negative expression was dominant in adenocarcinoma (P<0.05). When nm23 expression was compared with the clinicopathologic risk factors, there was no correlation of expression with the grade, deep invasion of the stroma, parametrial involvement and lymph node metastasis. But expression was inversely correlated with the number of metastatic lymph nodes (P<0.05). Although 3 or more lymph node metastases is a very poor prognostic sign, nm23 expression was not correlated either with recurrence or survival. Expression was negative in 77% of metastatic lymph nodes and in all of the recurrences. The predominance of negative expression in metastatic lymph nodes (P<0.05) and recurrences seems to be related to the aggressive behavior of the negative clone in the heterogeneous primary tumor.

Ichthyosis uteri associated with a uterine squamous papilloma.

A 60-year-old woman was admitted for postmenopausal vaginal bleeding. Hysterectomy specimens showed an intrauterine polypoid mass that was a typical papilloma microscopically, accompanying severe ichthyosis uteri. There was no sign of dysplasia or malignancy. We observed changes simulating koilocytosis in some of the papilloma cells, but these did not stain with antiHPV antibodies immunohistochemically.

Thyroid metastasis of renal cell carcinoma. A case report.

In this article thyroid metastasis in a patient who was operated 11 years ago for renal cell carcinoma is reported with the review of the literature. That case was also the first and the only thyroid gland metastasis in 4.124 thyroidectomies during a 17-year period at our department. Because the thyroid gland may be the only and a rare metastatic site, differentiation of the metastatic lesion from the primary thyroid neoplasm could be difficult.