A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss.

Hereditary deafness is a genetically heterogeneous phenotype for which more than 100 genomic loci have been identified thus far. By analysis of a consanguineous Palestinian family, GPSM2 was recently discovered to be the cause of autosomal recessive non-syndromic hearing loss DFNB82. Here, we report a second truncating mutation, GPSM2 p.Q562X, identified via autozygosity mapping in a consanguineous Turkish family. This report provides evidence for allelic heterogeneity of GPSM2 and confirms its causative role for non-syndromic deafness.

Evaluation of pericardial sinuses and recesses with 2-, 4-, 16-, and 64-row multidetector CT.

PURPOSE: The aim of this study was to describe visualisation rate and appearance of all pericardial sinuses and recesses and to evaluate whether there is a significant difference between visualisation of these sinuses and recesses on 2-, 4-, 16- and 64-slice multidetector computed tomography (MDCT). MATERIALS AND METHODS: We retrospectively analysed 588 MDCT scans of the chest obtained with a protocol for pulmonary embolism. RESULTS: The visualisation rate of any pericardial recess was 85.2%. The rates on 2-, 4-, 16- and 64-slice MDCT were 74.7%, 90.6%, 90.3% and 88.7%, respectively. There was a statistically significant difference in visualisation rates of pericardial recesses between 2-slice MDCT and other MDCT systems (p<0.01). Age, and 4-, 16- and 64-slice MDCT versus 2-slice MDCT and the presence of pleural effusion appeared as significant predictors of the presence of any recess. CONCLUSIONS: Visualisation rates of pericardial recesses are higher with 4-, 16- and 64-slice MDCT than with 2-slice MDCT. Therefore, radiologists need to be familiar with the different appearances of pericardial recesses on MDCT to avoid misdiagnosis.

A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia.

Using Affymetrix 10K arrays, we searched for regions of homozygosity in 51 Turkish families including at least three members with either congenital or prelingual autosomal recessive non-syndromic sensorineural hearing loss (ARNSSNHL), and identified four families whose deafness mapped to the DFNB6 locus on 3p21 containing the TMIE gene. Mutation analysis revealed the p.R84W mutation in all four families. Screening of this mutation in 254 families with ARNSSNHL, without GJB2 mutations, revealed four additional affected families. A novel mutation was found in a non-complementary marriage between a deaf couple who were homozygous for p.R84W and p.W57X, respectively with two affected children who were compound heterozygotes. Six of the TMIE families originated from southeastern Anatolia, making p.R84W a common cause of hearing loss in that region with a relative frequency of 10.3% (95% CI is 2.5-18.1%). The overall prevalence of the p.R84W mutation in ARNSSNHL in Turkey is 2.4% (95% CI is 0.7-4.0%). Genotyping of single-nucleotide polymorphisms flanking the TMIE gene revealed a conserved haplotype, suggesting a single origin for p.R84W from a common ancestor 1250 years ago (95% CI is 650-2500 years). We conclude that p.R84W could be a common mutation in other Middle Eastern populations and should be included in mutation screening offered to individuals with ARNSSNHL.

Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.

Homozygous mutations in the fibroblast growth factor 3 (FGF3) gene have recently been discovered in an autosomal recessive form of syndromic deafness characterized by complete labyrinthine aplasia (Michel aplasia), microtia, and microdontia (OMIM 610706 - LAMM). In order to better characterize the phenotypic spectrum associated with FGF3 mutations, we sequenced the FGF3 gene in 10 unrelated families in which probands had congenital deafness associated with various inner ear anomalies, including Michel aplasia, with or without tooth or external ear anomalies. FGF3 sequence changes were not found in eight unrelated probands with isolated inner ear anomalies or with a cochlear malformation along with auricle and tooth anomalies. We identified two new homozygous FGF3 mutations, p.Leu6Pro (c.17T>C) and p. Ile85MetfsX15 (c.254delT), in four subjects from two unrelated families with LAMM. The p.Leu6Pro mutation occurred within the signal site of FGF3 and is predicted to impair its secretion. The c.254delT mutation results in truncation of FGF3. Both mutations completely co-segregated with the phenotype, and heterozygotes did not have any of the phenotypic findings of LAMM. Some affected children had large skin tags on the upper side of the auricles, which is a distinctive clinical component of the syndrome. Enlarged collateral emissary veins associated with stenosis of the jugular foramen were noted on computerized tomographies of most affected subjects with FGF3 mutations. However, similar venous anomalies were also detected in persons with non-syndromic Michel aplasia, suggesting that a direct causative role of impaired FGF3 signaling is unlikely.

Colchicine intoxication and infection risk: a case report.

Colchicine is widely used, primarily for the treatment of gouty arthritis and familial Mediterranean fever. Colchicine intoxication is a rare but potentially life-threatening event. Herein, we reported a 26-year-old woman who presented to the emergency department after ingesting 27.5 mg of colchicine in a suicide attempt. She exhibited signs typical of colchicine-poisoning and developed infectious complications but with subsequent complete recovery. This paper discusses the role of colchicine poisoning in increasing susceptibility to infections. This aspect is usually under-appreciated in the clinical picture of colchicine overdose.

Treatment of Left Ventricular Assist Device Thrombosis: Single-Center Experience.

Heart failure is the one of the biggest health problem in the world. Because of limited donors for heart transplant procedures, the ventricular assist device has become a solution for heart failure therapy. With the increase in number of ventricular assist devices, the incidence of complications has also increased. One of the most important life-threatening complications is ventricular assist device thrombosis. Medical therapy and changes in the ventricular assist device are the main therapy methods for ventricular assist device thrombosis. In this study, we showed our clinical experience with treatment of ventricular assist device thrombosis.

An unusual bilateral mastitis in a postmenopausal woman caused by brucellosis.

Breast involvement of brucella can be frequently detected in animals, however, it is extremely rare in humans. Clinical findings and complications may cause difficulties in diagnosis. We report the case of a 52-year old woman with bilateral brucella mastitis, which is difficult to differentiate from inflammatory breast carcinoma.

Visualization of the normal appendix in children by non-contrast MDCT.

OBJECTIVE: We studied the proportion of normal appendices, identified on non-contrast MDCT scans of the abdomen and pelvis in children with possible renal stones. MATERIALS AND METHODS: A total of 105 patients were included in the study, comprising 40 girls (38%) and 65 (62%) boys, with a mean age of 7.3 years. Non-enhanced abdominal computed tomographies were evaluated retrospectively, and the visualization, location, contents, diameter of the appendix, and the amount of abdominal fat were recorded. RESULTS: The appendix was clearly distinguished in 72 patients (68.5%). The difference in appendix visualization rates between patients with low and medium amounts of abdominal fat was statistically significant (p < 0.001). Visualization increased with age. The greatest external diameter was between 2.8 and 10 mm, with a mean of 5 +/- 1.34 mm. CONCLUSION: MDCT without contrast will be more useful when used in patients of 6 years old and over, for visualization of the appendix. A better visualization of retrocaecal appendix by MDCT provides a greater advantage over US. Prospective comparative studies will determine the role of this method in the diagnosis of acute appendicitis in pediatric patients.

CFD modeling of pharmaceutical isolators with experimental verification of airflow.

Computational fluid dynamics (CFD) models have been developed to predict the airflow in a transfer isolator using a commercial CFD code. In order to assess the ability of the CFD approach in predicting the flow inside an isolator, hot wire anemometry measurements and a novel experimental flow visualization technique consisting of helium-filled glycerin bubbles were used. The results obtained have been shown to agree well with the experiments and show that CFD can be used to model barrier systems and isolators with practical fidelity. This indicates that CFD can and should be used to support the design, testing, and operation of barrier systems and isolators.

Gunshot injuries of the ureter: one centre's 15-year experience.

PURPOSE: Ureteral injury is a rare condition. It is difficult to identify the best diagnostic methods and treatment. We report our experience with penetrating ureteral injuries secondary to gunshot wounds. The methods of diagnosis and treatment options of these cases are described and discussed. MATERIALS AND METHODS: A retrospective review of ureteral injuries due to penetrating trauma between January 1990 and December 2005, in the Urology and General Surgery departments of our hospital. Ureteral injures were graded according to the AAST-OIS. We evaluated mechanism of injury, initial urinalysis, radiologic and operative procedure, associated injuries, and postoperative complications. RESULTS: A total of twenty-one (sixteen male, five female) cases of gunshot ureteral injuries were evaluated retrospectively. The median patient age was 27.85 years (16-48 years). All patients had signs and symptoms of an acute abdomen and only nine patients were evaluated radiologically. Haematuria was absent in 71.4% of patients (15 of 21). All patients had associated injuries and were evaluated from grade I to V. Grade I had none, grade II had 1 (4.76%), grade III had 3 (14.29%), grade IV had 14 (66.6%), grade V had 3 (14.29%). Ureteral stent or nephrostomy tubes were used in all primarily repaired patients. Two patients developed urinary leakage, which resolved spontaneously. CONCLUSIONS: Ureteral injury should always be borne in mind and, when suspected, the surgeon should dissect and visualize the ureter during exploration. Adequate debridment, and ureteral stenting or nephrostomy drainage are good techniques for successful treatment.

A severe (type II) hepatopulmonary syndrome in a patient with idiopathic portal hypertension and treatment with paroxetine.

The hepatopulmonary syndrome has been defined as chronic liver disease accompanied by abnormal pulmonary gas exchange, which might result in arterial deoxygenation, and widespread intrapulmonary vasodilation. Although it has been pointed out that hepatopulmonary syndrome occurs in liver cirrhosis, there are a few studies in the literature reporting noncirrhotic portal hypertension as a cause of hepatopulmonary syndrome. Currently, liver transplantation is the only effective therapy for such patients. on the other hand, there is also a proposal about considering paroxetine, a potent nitric oxide synthase inhibitor, for use in the hepatopulmonary syndrome. We present a patient with severe (type II) hepatopulmonary syndrome caused by idiopathic portal hypertension and discuss the consequences of paroxetine therapy.

Prognostic significance of flow cytometric DNA analysis in patients with malignant pleural mesothelioma.

Malignant pleural mesothelioma (MPM) due to environmental exposure to asbestos and erionite is a relatively common cancer in Turkey. In this study, we investigated the value of flow cytometric (FCM) DNA analysis and other prognostic factors such as age and etiologic factor in the patients with MPM, treated with surgery+/-combination chemotherapy+/-radiotherapy. A total of 40 patients with a median age of 50 (range 30-68) were included in the study. Twenty-nine patients had asbestos exposure in etiology, while 11 had fibrous zeolite (erionite). Paraffin-embedded tumor specimens were studied by FCM for DNA analysis. Twelve patients (30%) had aneuploid tumors and 28 (70%) had diploid ones. Mean S-phase fraction (SPF; %) was 9.1+/-1.1 and proliferation index (PI, SPF+G2/M phase; %) was 11.3+/-0.9. While the median overall survival (OS) was 10+/-2 months (6-14; 95% CI), 1-year survival rate was 45.2%. Only PI was found to be statistically significant for OS in univariate analysis (P=0.013). PI was also found to be an independent prognostic factor for all patients (P=0.035). Aneuploidy was significantly higher in erionite group compared with asbestos group. Male predominance and poor survival were also prominent in erionite group, though not statistically significant. In conclusion, PI is an independent prognostic factor for patients with MPM and the biologic features of the disease may show differences with respect to different etiologies.

Fibrinolytic system in plasma and pleural fluid in malignant pleural mesothelioma.

The two major fibrinolytic activators, urokinase-type plasminogen activator (u-PA) and tissue-type plasminogen activator (t-PA) may play role in tumor spread and metastasis. Malign pleural mesothelioma (MPM) is a kind of tumor with predominantly local invasion and low incidence of distant metastasis. In this study, u-PA, t-PA and PA activator-1 (PAI-1) antigen and activity were measured in plasma and pleural fluid samples from patients with MPM, lung cancer and benign effusion. When compared to the control group, in MPM group, plasma u-PA and t-PA antigen levels were higher, but plasma u-PA and t-PA activity were comparable. PAI-1 antigen was also higher in MPM group. These findings were in contrast to the lung cancer group, in which both activity and immunologic measurement of u-PA and t-PA were higher, but PAI-1 antigen was similar as compared to the control group. It is concluded that excess t-PA and u-PA are balanced in complexes with PAI-1 in MPM, whereas the amount of PAI-1 in plasma is insufficient to overcome the elevated t-PA and u-PA, in lung cancer. Based on these findings, it may be suggested that the balanced fibrinolytic system is responsible for the low incidence of distant metastasis in MPM.

Stress analysis of bone modeling response to rat molar orthodontics.

The purpose of this project was to determine if alveolar bone modeling could be associated with altered mechanical environment. Finite element stress analysis of an orthodontically tipped rat molar periodontium was performed. The distributions of mechanical components within the periodontal ligament and cortical bone were compared to the well-documented bone formation and resorption patterns in the alveolus of the tooth. It was concluded that in orthodontically induced bone modeling activity, locations of osteogenesis uniquely coincided with increased tension within the periodontal ligament, while bone resorption areas could be associated with increases in other components (minimum principal and maximum shear stresses, strain energy density, and von Mises) within the bone itself.

Chest wall reconstruction with autologas rib grafts in dogs and report of a clinic case.

OBJECTIVE: Nowadays, in chest wall reconstruction prosthetic materials are generally used. However, the rejections of prosthetic materials and infections frequently occur in chest wall reconstruction, especially after radiotherapy or resection that is performed due to infections. METHODS: We used 10 mongrel dogs and performed resections of 8 cm diameter on their chest walls. In the reconstruction of these defects, in five of the subjects, we used two free rib grafts with periosteum to be resected from the contralateral side and in other five subjects, we used free rib grafts without periosteum. After this experimental study, sternal resection was performed in a 24-year-old man because of sternal osteomyelitis. First to obtain rib grafts with periosteum, partial resection was performed to 5th, 7th, and 9th ribs of the lateral left side. After, total sternal resection, end to end anastomosis was performed to the 2nd, 3rd, 4th and 5th anterior ends of the ribs. RESULTS: Autogeneous rib grafts were found to be enough to provide chest wall stabilization. CONCLUSIONS: The contralateral autogeneous free rib grafts can successfully be used in reconstruction of wide chest wall defects. This method is found to be effective and sufficient to prevent infection, rejection and to provide stabilization.

Transthoracic approach in surgical management of Morgagni hernia.

OBJECTIVE: Morgagni hernia is an uncommon type of diaphragmatic hernias. Numerous approaches have been described and, particularly the significance of laparatomy has been emphasized as an operative technique. We present our experience on patients with Morgagni hernia operated on via transthoracic approach in our department. MATERIALS AND METHODS: Between January 1986 and March 2000, 16 patients with Morgagni hernia were operated in our department. Their ages ranged from 16 to 68 years (mean 51.5). Five (31.25%) patients were male, and 11 (68.75%) patients were female. Chest roentgenograms, thorax CT, barium enema roentgenographic studies were used as diagnostic utilities. Right posterolateral thoracotomy was performed in all patients. RESULTS: Hernia sac was present in all cases. Exploration revealed omentum in hernia sac in eight patients (50%), colon and omentum in seven patients (44%), only colon in one patient (%6). Postoperative course was uneventful. The mean follow-up was 5.7 years. There was no recurrence or symptoms related to the operation. CONCLUSIONS: We advocate transthoracic approach for surgical exposure as it provides wide exposure and easy repair of the hernia sac in Morgagni hernia.

Surgical treatment of pulmonary hydatid cysts in children.

PURPOSE: Ten years' experience is analyzed in pediatric patients with pulmonary hydatid cysts. METHODS: Between 1990 and 2000, 33 pediatric patients (2 to 15 years of age) with pulmonary hydatid cysts were operated on in Department of Thoracic Surgery in Ankara University School of Medicine. There were 17 girls and 16 boys. RESULTS: Twenty-three cases presented as a solitary lung cyst, whereas the remaining 10 were found to have multiple cysts in one or both lungs. Cystotomy and capitonnage were performed in 25 patients, cystotomy was done in 6 patients, and only 2 patients underwent the wedge resection. The authors used no scoliocidal agent in our approach. There was no operative mortality. Recurrence after operation was seen in one patient. CONCLUSION: Pulmonary hydatid cysts in children can be treated successfully by cystotomy and capitonnage or only cystotomy. J Pediatr Surg 36:917-920.

Mechanical simulation of the human mandible with and without an endosseous implant.

Clinical research has demonstrated that a high remodelling rate for cortical bone exists around a rigid endosseous implant. This phenomenon may be regulated by change in the mechanical environment. 3D finite element models of the human mandible with and without an endosseous implant have been created to investigate the mechanical environment adjacent to the left retromolar area where the ipsilateral implant was located. A bite force of 100 N was applied in the left premolar region. The mechanical environment before and after implantation were computed. The environment was characterized by the following parameters: the principal stresses, dilatational stress, and von Mises stress. The changes in these parameters due to the implantation were calculated. The results showed that the mechanical environment adjacent to the implant changed drastically due to the implant. The major changes in the mechanical parameters occurred adjacent to the bone-implant interface at the bony surface. The changes of the distribution of the mechanical parameters due to implantation were different. Implantation effects were local, and did not alter the overall mechanical environment.