Prenatal diagnosis of an autosomal translocation with regular trisomy 21.

The coincidence of trisomy 21 and a structural rearrangement is very rare, and even it has not been reported as a prenatal diagnosis yet. In this article, we present an autosomal translocation carrier fetus with trisomy 21: 47,XX,+21, t(3;8)(p21;q24). Although the coincidence of reciprocal translocation and trisomy may be seen in reciprocal translocation carrier families, de novo cases are extremely rare. The presented case is diagnosed by amniocentesis, which was performed because of abnormal fetal ultrasonographic findings and increased trisomy 21 risk at maternal serum screening test. The postmortem pathologic examination of the fetus revealed that the findings of hypertelorism and right lung with two lobes are interesting novel findings of our cases associated with the breakpoints 3p21 and 8q24.

The relationship of the BRAF(V600E) mutation and the established prognostic factors in papillary thyroid carcinomas.

It has been shown that BRAF(V600E) mutation in papillary thyroid carcinomas (PTC) is associated both with pathogenesis and poor prognosis. In this study, we aimed to investigate the relationship of the BRAF(V600E) mutation and the established prognostic factors in a cohort of Turkish patients with PTC. Forty-six cases of papillary thyroid carcinoma have been evaluated for the presence of BRAF(V600E) mutation. BRAF(V600E) has been examined by restriction fragment length polymorphism. BRAF(V600E) mutation status has been compared with well-known histopathological and clinical prognostic parameters such as invasion of thyroid capsule, extrathyroidal extension, and the presence of lymph node and/or distant metastasis. We have found that BRAF(V600E) mutation was present in the majority of our cases (40/46). Considering the stage of the disease, five of the negative cases were in stage 1 while the remaining one was in stage 2. Only one BRAF(V600E) negative case has shown extrathyroidal extension and lymph node metastasis. All four patients with distant metastasis had BRAF(V600E) mutation. Statistical analyses revealed that there are no significant relationship between the BRAF(V600E) mutation and the established prognostic factors. We found a relatively higher BRAF(V600E) mutation rate in classical type PTC than in other similar studies. We think that the limited number of our cases may either weaken or mask some potentially important relationship between BRAF(V600E) mutation and the established prognostic factors.

Evaluation of sericin/collagen membranes as prospective wound dressing biomaterial.

Sericin, a silk protein, has high potential for use in biomedical applications. In this study, wound dressing membranes of Sericin (S) and Collagen (C) were prepared by glutaraldehyde cross-linking at S/C; 2:1, 1:1, 1:2, and 0:1 weight ratios. They were stable in water for 4 weeks. However, increasing the proportion of sericin had decreasing effect on the membrane stability. Water swelling property of membranes was enhanced with sericin. The highest water swelling was obtained in 1:1 group (9.06 g/g), but increasing collagen or sericin content in the membranes had a diminishing effect. Highest water vapor transmission rate was obtained with 1:2 group (1013.80 g/m(2)/day). Oxygen permeability results showed that 1:2 (7.67 mg/L) and 2:1 (7.85 mg/L) S/C groups were better than the other groups. While sericin decreased the tensile strength and elongation of membranes, it increased modulus. Sericin also increased brittleness of membranes, but their UTS range (24.93-44.92 MPa) was still suitable for a wound dressing. Membranes were not penetrable to microorganisms. Cytotoxicity studies showed that fibroblasts and keratinocytes attached and gained their characteristic morphologies. They also proliferated on membranes significantly. After 1 week of subcutaneous implantation, a fibrous capsule formed around all membranes with an acute inflammation. Sericin containing membranes showed signs of degradation (at 2nd week), while collagen only membranes remained largely intact. Eventually, sericin containing membranes degraded in 3 weeks with moderate inflammatory response. Overall results suggest that sericin/collagen membranes would be favorable as wound dressing material when sericin ratio is less than or equal to the collagen component.

Relationship between postoperative recurrence rate and eosinophil density of nasal polyps.

OBJECTIVES: Nasal polyps develop as a result of chronic inflammation, mostly accompanied by pronounced eosinophil leukocyte infiltration. In this study we aimed to investigate the relationship between eosinophil density in nasal polyps and the postoperative recurrence rate of this disease. METHODS: Forty-two patients who underwent endoscopic sinus surgery for massive nasal polyposis by one surgeon were included in the study. The eosinophil leukocyte densities in nasal polyps were determined retrospectively on histologic slides by use of computer-assisted image analysis software. The patients were assigned to group 1, in whom nasal polyps contained up to 3 eosinophils per 1,000 microm2, and group 2, in whom nasal polyps contained 4 or more eosinophils per 1,000 microm2. The postoperative recurrence rates of nasal polyps were compared in the two groups. RESULTS: There were 20 patients in group 1 and 22 patients in group 2. Postoperative polyp recurrence was detected in 5 of 20 patients (25.0%) in group 1 and in 18 of 22 patients (81.8%) in group 2 during the 30-month postoperative followup period (p < 0.05). CONCLUSIONS: The eosinophil density of nasal polyps can be used to get an estimate of the postoperative recurrence risk. Eosinophil-rich nasal polyps have a higher postoperative recurrence rate.

Endoscopic transnasal transpterygoid approach for parasphenoidal myxoma.

The parasphenoidal region is a difficult location to gain access to and contains a lot of vital neurovascular structures that have risk of injury during surgery. The transnasal endoscopic approach for this region has been described in several cadaveric studies in recent years. Herein we present a case of parasphenoidal myxoma, extending to the anteroinferior border of the cavernous sinus in a 48-year-old woman. The tumor was completely removed by the endoscopic transnasal transpterygoid approach. No postoperative complication was seen. The endoscopic transnasal transpterygoid approach may be a good alternative to external approaches in selective skull base tumors.

Post varicella hepatic actinomycosis in a 5-year-old girl mimicking acute abdomen.

Actinomycosis is an indolent, slowly progressive infection caused by gram-positive, anaerobic or microaerophilic bacteria. Hepatic involvement is rare and generally secondary to abdominal or thoracic actinomycosis. Hepatic actinomycosis in children may mimic a wide variety of diseases and thus make the diagnosis much more challenging. Here, we report a 5-year-old girl with apparently primary hepatic actinomycosis mimicking acute abdomen 2 weeks after varicella. The diagnosis was made by ultrasonic guided fine needle aspiration biopsy of a hypoechoic lesion of 3.5 cm diameter in the liver showing sulfur granules surrounded by neutrophils. Hepatic actinomycosis should be taken into account when evaluating acute abdomen symptoms in children.

Concordance between thyroid nodule sizes measured by ultrasound and gross pathology examination: effect on patient management.

Ultrasound examination (US) is an essential tool in the evaluation of thyroid nodules. The size determined by US is used to distinguish between clinical vs. nonclinical thyroid nodules i.e. greater than or equal to or less than 1 cm. In this study, we evaluated the concordance between the sizes of thyroid nodules measured by US and by gross examination after thyroidectomy. This study included 664 nodules that underwent fine-needle aspiration (FNA) and subsequent excision in 621 patients; 580 had single and 41 patients had multiple (39 with 2, and 2 with 3 nodules) nodules. Both US and gross pathology measurements were taken in three dimensions. The nodule sizes as measured by US were stratified into five groups: A: or=5.1 cm. FNA diagnoses were categorized into: Benign (n = 59), Neoplastic / Indeterminate (n = 342), Suspicious (n = 123), Malignant (n = 106), and nondiagnostic (n = 34). Upon excision 278 (42%) nodules were classified as malignant and 386 (58%) as benign. In group A the concordance between US and excisional size was 78.5%, group B 56%, group C 34.5%, group D 40% and group E 52.5%. Only 14 (14/664 2%) nodules measured

Prognostic value of p53 protein and MK-1 (a tumor-associated antigen) expression in gastric carcinoma.

BACKGROUND: MK-1, the target molecule of FU-MK-1, is encoded by the GA733-2 gene, which is currently being used as a target in clinical trials for gastric, intestinal and biliary cancer treatment with monoclonal antibodies. Also of interest is p53, a protein that has been intensively investigated in relation to particular types of tumors, patterns of metastases, tumor stage, and prognosis. METHODS: The expression of p53 protein and MK-1 antigen was investigated in specimens from 42 patients with gastric carcinoma. The specimens were stained by the avidin-biotin peroxidase technique for immunohistochemical examination. RESULTS: MK-1 was positive in 21 (50%) of the 42 cases. MK-1 expression was more frequent in cardia tumors (71%), in large (>3 cm) tumors (60%-64%), and in specimens from patients with more than five metastatic lymph nodes (69%). p53 expression was present in 20 (48%) of the 42 cases. Of these 20 patients, 15 (52%) had tubular adenocarcinoma (TA) and 5 (38%) had signet ring cell carcinoma. p53 expression was more frequent in the tumors of male patients (55% vs 27%); in poorly differentiated TAs (60% vs 47% in well-to-moderately differentiated TAs); in smaller tumors (< or = 3 cm, 72% vs 43%-50% in larger tumors); in patients with a prominent inflammatory response (61% vs 21%; P < 0.02); and in patients with lymphatic vessel invasion (77% vs 34%; P < 0.02). However, p53 expression was less frequent in the presence of more than five metastatic lymph nodes (23% vs 60% for five or fewer nodes; P < 0.05). Most patients with p53- and MK-1-positive gastric carcinomas and those more than five metastatic lymph nodes had a poor prognosis. CONCLUSION: The study found that the expression of both p53 and MK-1 was frequent in aggressive gastric carcinomas; however, extensive lymph node involvement (more than five nodes) was the only significant factor related to overall survival.

The local antinociceptive actions of nonsteroidal antiinflammatory drugs in the mouse radiant heat tail-flick test.

BACKGROUND: While many preclinical models detect the analgesic activity of nonsteroidal antiinflammatory drugs (NSAIDs), the radiant heat tail-flick response has repeatedly been insensitive to this class of drugs. As the tail-flick test involves nociceptive processing at spinal circuits with supraspinal modulation, it seems reasonable to assume that the NSAIDs should not modify strong nociceptive stimuli, since the primary site of action of NSAIDs is likely to be in the periphery. METHODS: We injected 3-300 mug of diclofenac, dipyrone, ketorolac, lysine acetyl salicylate, and sodium salicylate intradermally into mice tails and evaluated the tail-flick response to radiant heat. These results were compared with intraperitoneally injected controls. We also evaluated the ability of naloxone to reverse the observed effects. RESULTS: Intradermal injection of each NSAID produced a dose-dependent increase in tail-flick latency. Intraperitoneal NSAIDs injection produced no antinociceptive effects. Naloxone pretreatment had no effect on the antinociceptive effects of intradermal diclofenac, ketorolac, lysine acetyl salicylate, and sodium salicylate. Naloxone completely blocked the antinociceptive effects of intradermal dipyrone. CONCLUSIONS: Local, but not systemic, administration of NSAIDs produced antinociception in the tail-flick thermal assay. The endogenous opioid system contributes to the peripheral antinociceptive effects of dipyrone, but not to that of diclofenac, ketorolac, lysine acetyl salicylate, or sodium salicylate, suggesting differences in the mechanisms of action among the NSAIDs.

Fine-needle aspiration of follicular lesions of the thyroid. Diagnosis and follow-Up.

The differential diagnosis of a follicular lesion/neoplasm in thyroid FNA specimens includes hyperplastic/adenomatoid nodule, follicular adenoma and carcinoma, and follicular variant of papillary thyroid carcinoma. In our laboratory we separate follicular lesions of thyroid into hyperplastic/adenomatoid nodule (HN), follicular neoplasm (FON) and follicular derived neoplasm with focal nuclear features suspicious for papillary thyroid carcinoma (FDN). This study reports our experience with 339 cases diagnosed as FON and 120 as FDN. All cases were evaluated for histologic diagnosis, age, sex and size of the nodule. Histopathologic follow-up was available in all cases. The malignancy rate was 22% (74/359) and 72% (86/120) for cases diagnosed as FON and FDN, respectively. In the FON category almost half of the malignant cases were papillary carcinoma. The risk of malignancy was higher in patients younger than 40 yr (53% vs. 30%) than in patients 40 year or more years old and greater in males (41% vs. 33%) than females. No statistically significant relationship was noted between the sizes of the nodules and benign vs. malignant diagnosis. According to this study it is important to divide follicular patterned lesions of thyroid into FON and FDN in the cytology specimens due to significantly different risk of malignancy (22% vs. 72%). In addition, clinical features, including gender and age can be part of the decision analysis in selecting patients for surgery.

Unusual features in a patient with neurofibromatosis type 1: multiple subcutaneous lipomas, a juvenile polyp in ascending colon, congenital intrahepatic portosystemic venous shunt, and horseshoe kidney.

We report a case that draws attention to a hitherto undescribed association of neurofibromatosis type 1 (NF1) with juvenile polyp, congenital intrahepatic portosystemic venous shunt, multiple subcutaneous lipomas, and horseshoe kidney. Our patient has fulfilled the National Institutes of Health consensus conference criteria for NF1 by having neurofibromas, axillary freckling, Lisch nodules, and café-au-lait spots. There is no family history of NF1 and his 7-year-old son has no stigmata of NF1. On the other hand, the patient's family had a presumably dominant inheritance of horseshoe kidney: the father, proband, sister, and son of the other sister had a horseshoe kidney. The patient was investigated for mutations in the NF1 gene and PTEN, but no germline mutations were detected. The differential diagnosis for such a collection of hamartomatous, cutaneous, and vascular disorders includes the Proteus, Bannayan-Riley-Ruvalcaba, and Cowden syndromes. None of these diagnoses was convincingly confirmed in this patient.

Villoglandular papillary adenocarcinoma of the uterine cervix in a pregnant woman: a case report and review of literature.

Villoglandular papillary adenocarcinoma (VPA) of cervix is rare but a well recognized variant of cervical adenocarcinoma with favorable prognosis occurring in younger age group. A 28-year-old white woman, gravida 3, para 2 was admitted for abnormal vaginal bleeding, when she was pregnant at 8th weeks of gestation. Physical examination revealed about 2.5 cm polipoid lesion of the cervix protruding into vagina. Histopathological findings were consistent with cervical VPA. After termination of pregnancy, radical hysterectomy type III was performed. The patient underwent second, third and fourth laparotomies because of recurrent pelvic masses. At the end of five years follow-up period, she died because of the complication of recurrent tumor. VPA is not an innocent tumor, and can be complicated by recurrence and metastasis. More radical surgical and medical attempts should be planned.

Pediatric cerebellar cystic oligodendroglioma: case report and literature review.

Oligodendrogliomas rarely occur in the posterior fossa of childhood and constitute approximately 1% of pediatric brain tumors. Only six pediatric posterior fossa oligodendroglioma cases have been reported to date and none of them were cystic. The authors present a seven-year-old girl with cystic, cerebellar midline localized tumor. A standard suboccipital craniectomy was performed and the tumor was histologically confirmed as oligodendroglioma. After operation the patient underwent radiation therapy and at one the-year follow-up, no recurrence of the tumor was observed.

Sustained local application of low-dose epidermal growth factor on steroid-inhibited colonic wound healing.

BACKGROUND/PURPOSE: The effects of locally administered low-dose epidermal growth factor in a steroid-inhibited wound healing were investigated in a rat model. METHODS: Long-acting release of epidermal growth factor was enabled using microspheres embedded in gelatin sponge. Study groups consisted of 60 rats with 10 in each: colonic anastomosis only (C), plus pure gelatin sponge (CG), plus epidermal growth factor loaded sponge (CE), colonic anastomosis and steroid (S), plus gelatine sponge (SG), and plus epidermal growth factor-loaded gelatine sponge (SE) groups. Bursting pressure and wound hydroxy-proline content were measured. Bursting sites were recorded. Collagen deposits, inflammation, and foreign body reactions were evaluated. RESULTS: Bursting pressure and hydroxy-proline contents were found lowest in the S and highest in the CE groups (P <.01). There was almost no difference between C and SE groups. Bursts were encountered in peri-anastomotic normal colon sites in the nonsteroid-treated C, CG, and CE groups. They were noted overwhelmingly at the anastomosis in steroid-inhibited S, SG, and SE groups. Histopathology results showed a standstill at the inflammatory phase of healing in S and SG groups. The best healing was observed in the CE group. Degree of collagen accumulation was well correlated with bursting pressure and hydroxy-proline content data with a negligible foreign body reaction to gelatine sponge. CONCLUSIONS: Continuous local epidermal growth factor administration by microspheres in gelatin increases wound collagen and further enhances healing in colonic anastomoses even with steroid inhibition.

Altered distribution of metaplastic Paneth, gastrin and pancreatic acinar cells in atrophic gastritic mucosa with endocrine cell lesions.

The mechanism of progression from gastric endocrine cell hyperplasias (ECHs) to carcinoid tumor (GCT) is still unknown. In these lesions, the distribution of metaplastic Paneth, gastrin and pancreatic acinar cells developing due to consequences of corporal mucosal atrophy has not been investigated in detail. In this study, 33 gastric endoscopic biopsies with endocrine cell lesions were examined. In all cases except 6 with solitary GCT, complete-type (small intestine) intestinal metaplasia (IM) with Paneth cells was observed. The density of lysozyme-positive Paneth cells in IMs in cases with GCTs was less than those in ECH alone. The density of gastrin-positive cells in IMs and average number of micronodules of ECHs were similar. Pancreatic acinar metaplasia (PAM) was observed in 6 cases of GCTs with ECH. The size of GCTs with ECH was smaller than those without ECH. By image analysis, the percentage of Ki67 (MIB-1, proliferation marker) expressing cells of GCTs with ECH was 5.1+/-0.6%, and GCT without ECH 7.8+/-1%. Our results indicate that few Paneth cells and many PAMs in atrophic corporal mucosa are seen more frequently in cases of GCTs with ECH, compared to those in ECH alone. Gastrin-positive cells in the corporal IM may stimulate enterochromaffin-like (ECL) cells, which may induce hyperplasia, dysplasia or neoplasia by augmenting the effects of hypergastrinemia through a paracrine mechanism on local gastrin-sensitive cells.

Lipoma arborescens (diffuse articular lipomatosis).

Lipoma arborescens (LA) (diffuse articular lipomatosis, synovial lipomatosis, Hoffa disease) is a rare intra-articular lesion of unknown etiology. This article presents three patients who had LA, which was diagnosed in the knee in two patients and in the wrist of the third patient. Details of the clinical and histomorphological examination and treatment, in addition to a review of the literature, are discussed. The article concludes that in patients with a slow increase in painless swelling of the joints, unresolving articular pain with or without limited motion, or intermittent effusions following a minor trauma, LA should be considered in the differential diagnosis. It should be remembered that LA occurs in joints other than the knee, such as the elbow, shoulder, and wrist. Although recommended surgery involves arthrotomy and synovectomy, arthroscopic synovectomy may be a useful treatment modality, particularly in the larger joints as the recurrence rate is low.

Retroperitoneal benign schwannoma: report of three cases and analysis of clinico-radiologic findings.

Retroperitoneal schwannoma is a rare tumor that originates in the neural sheath and accounts for only a small percentage of retroperitoneal tumors. Presentation is typically varied and non-specific ranging from abdominal pain, abdominal mass or an incidental finding and the diagnosis is quite often fortuitous being confirmed by anatomopathological study afterwards. We report 3 cases of benign retroperitoneal pelvic schwannoma with varied presentations. Main symptoms were abdominal and pelvic pain whereas a patient with left parailiac mass had urinary incontinence and left lower extremity pain. Surgical exploration and complete excision of tumors were successful. The histological diagnosis of the tumors was reported as benign schwannoma. All patients are doing well and had no symptoms of motor or sensory disturbances after surgery with a mean follow up of 18 mounts.

Testicular (gonadal stromal) fibroma: case report and review of the literature.

A 25-year-old man presented with complaint of a painless enlargement in his left testis. The solid, encapsulated, circumscribed and grayish-white testicular mass displayed the characteristics of testicular fibroma histologically. It was composed of acellular collagenized plaques and hypercellular areas of fibroblastic spindle cells. Immunohistochemically, the neoplastic cells were positive for vimentin and smooth muscle actin, but not for cytokeratin, S-100 protein, desmin, CD99/MIC2 (a protein expressed by Sertoli cells and granulosa cells) and CD34. Only 18 cases of testicular (gonadal stromal) fibroma composed exclusively of spindle cells have been reported to date. An additional case of fibroma, which lacks definite neoplastic sex cord elements, and its differential diagnosis from other mesenchymal lesions of testis are discussed here, together with other cases in the literature.

Immunohistochemical analysis of the infiltrated cells in tinea capitis patients.

Tinea capitis is a fungal infection of the skin and the hair with involvement of the hair shaft and the pilosebaceous unit. It may be the most common of all cutaneous mycoses in children. Tinea capitis can be inflammatory or noninflammatory. It is thought that humoral and cell-mediated immunities play a role in the formation of the clinical types of the disease. We studied twelve patients with acute inflammatory disease, four patients with chronic non-inflammatory disease, and one patient with a black-dot variant of tinea capitis. The composition of inflammatory infiltrates present in lesional skin was analyzed by antibodies to T cells (CD3) and B cells (CD20). Anti-CD3 revealed large numbers of T cells in twelve patients with acute, inflammatory dermatophytosis, whereas anti-CD20 revealed marked infiltrates of both B and T cells in all patients with chronic, non-inflammatory dermatophytosis. As a result, we thought that cell-mediated immunity might play a role in the acute, inflammatory type of tinea capitis and that humoral immunity might do so in the chronic, non-inflammatory type of tinea capitis.