Vaginal rhabdomyoma: a case report of an uncommon and misleading neoplasm.

Vaginal rhabdomyoma is an extremely rare tumor which presents as a vaginal polypoid masses. It is essential to differentiate it from benign and malignant mimickers so that appropriate therapy may be provided. The present report describes a vaginal wall nodule of a symptomatic 24-year-old woman. Local excision and subsequent pathological examination were performed. The final diagnosis was vaginal rhabdomyoma. The literature is reviewed and differential diagnosis are discussed.

General Conditions for Proximity-Induced Odd-Frequency Superconductivity in Two-Dimensional Electronic Systems.

We obtain the general conditions for the emergence of odd-frequency superconducting pairing in a two-dimensional (2D) electronic system proximity coupled to a superconductor, making minimal assumptions about both the 2D system and the superconductor. Using our general results we show that a simple heterostructure formed by a monolayer of a group VI transition metal dichalcogenide, such as molybdenum disulfide, and an s-wave superconductor with Rashba spin-orbit coupling exhibits odd-frequency superconducting pairing. Our results allow the identification of a new class of systems among van der Waals heterostructures in which odd-frequency superconductivity should be present.

Investigation of the energy barrier to the rotation of amide CN bonds in ACE inhibitors by NMR, dynamic HPLC and DFT.

The isomerizations of Enalapril, Perindopril, Enalaprilat and Lisinopril have been investigated using NMR spectroscopic, dynamic chromatographic, unified equation and DFT theoretical calculations. The thermodynamic parameters (ΔH, ΔS and ΔG) were determined by varying the temperature in the NMR experiments. At the coalescence temperature, we can evaluate the isomerization barrier to the rotation (ΔG(≠)) around the amide bond. Using dynamics chromatography and an unified equation introduced by Trap, we can determine isomerization rate constants and Gibbs activation energies. Molecular mechanics calculations also provided evidence for the presence of low energy conformers for the ACE due to restricted amide rotation. With the value of barriers (ΔE) between them of the order of (20kJmol(-1)), which is in agreement with the dynamic NMR results and DFT calculations.

Determination of Chlorophenols in Water Samples Using Solid-Phase Extraction Enrichment Procedure and Gas Chromatography Analysis.

Solid-phase extraction (SPE) procedure followed by derivatization and gas chromatography electron capture detection was evaluated for the determination of trace amounts of chlorophenols (CPs) in waters samples. Different parameters affecting extraction efficiency such as, volume of elution solvent, volume and pH of water sample, quantity of sorbent phase were studied and optimized. SPE was carried out on polystyrene-divinylbenzene (Bond Elut ENV) and high recoveries were obtained using 1000 mg of this cartridge for the treatment of 500 mL of acidified water sample. The described method was then tested on spiked tap, mineral, ground and surface water samples. The overall procedure provided limits of detection lower than 20 ng L(-1), recoveries of 70%-106% and an enrichment factor of 500 for the examined CPs in 500 mL water samples. Among the studied compounds, pentachlorophenol was detected in tap water at a concentration level of 0.06 µg L(-1).

Particulate polycyclic aromatic hydrocarbons (PAH) in the atmosphere of Bizerte city, Tunisia.

The particle-phase concentrations of polycyclic aromatic hydrocarbons (PAH) were determined in 13 air samples collected in an urban area of Bizerte (Tunisia) during 2009-2010. Atmospheric particulate samples were extracted by ultrasonic bath and analyzed by high-performance liquid chromatography with fluorescence detection. PAH were found in all the analyzed air samples and the most abundant compounds were pyrene, fluoranthene, benzo[g,h,i]perylene, benzo[b]fluoranthene, chrysene and benzo[a]pyrene. ∑14-PAH concentrations ranging from 9.38 to 44.81 ng m(-3) with mean value of 25.39 ng m(-3). PAH diagnostic ratio source analysis revealed gasoline and diesel vehicular emissions as major sources. The mean total benzo[a]pyrene toxicity equivalent calculated for samples was 3.66 ng m(-3) and the mean contribution of the carcinogenic potency of benzo[a]pyrene was determined to be 55.8 %. Concentrations of particulate PAH in Bizerte city atmosphere were approximately eight times greater than sampled at a nearby rural site.

Effects of permethrin on biomarkers in Mediterranean clams (Ruditapes decussatus).

The present study was focused on the assessment of Catalase (CAT) and Acetylcholinesterase (AChE) activities in Mediterranean clams (Ruditapes decussatus) exposed to 50, 100 and 150 µg/L of Permethrin for 5, 10, 15, 20 and 25 days. In water, the measured concentrations of Permethrin in the treated aquariums were respectively 16.66, 38.24 and 55.61 µg/L. Results showed that CAT activity was increased after 5 days of exposure to high concentration reaching maximum value of 10.14 µmol/min/mg proteins after 25 days. However, no significant changes in AChE activity after 5 days of exposure were detected in all treated groups. AChE activity was significantly inhibited after 10 days with 100 and 150 µg/L and still depending on concentration and time. Maximum inhibition of AChE activity was reached after 25 days with the highest concentration of Permethrin. Our data indicated that exposure to Permethrin modifies biomarker profiles inducing oxidative stress and reducing AChE activity in Mediterranean clams.

LATENT CLASS ANALYSIS IN DIAGNOSTIC TESTS EVALUATION FOR CANINE LEISHMANIA INFANTUM INFECTION.

Accurate assessment of diagnostic tests may be biased if an imperfect reference test is used for comparison; such a situation exists for the diagnosis of canine leishmaniasis. We compared classical diagnostic tests for Leishmania infantum with Latent Class Analysis (LCA), to assess whether we could make a more accurate calculation of diagnostic accuracy. Microscopy (Lymph node aspirate), serological test (IFAT), and molecular tests (LAMP and PCR) data were recorded for 75 dogs captured in Tunisian endemic area and suspected of leishmaniasis. Sensitivity and specificity estimates with the 2 x 2 contingency tables (Microscopy as gold standard) were broadly corroborated by LCA. However, the LCA provided a way to control the study limitations (small sample size) as well as for confounding factors. It also produces consistent estimates of the test characteristics. LCA estimation of the sensitivity and specifcity of the LAMP cpb assay (se: 68.7% [95% CI 573-80%] and sp: 86.2 [95% CI 749-975%]) is higher as compared to classical calculations (se: 54.2% [95% CI 38.2-69.5%] and sp: 80% [95% CI 65.2-89.5%). Considering the lack of an adequate reference standard, LCA proved to be a useful tool to independently evaluate diagnostic methods.

Dynamics of Majorana states in a topological Josephson junction.

Topological Josephson junctions carry 4π-periodic bound states. A finite bias applied to the junction limits the lifetime of the bound state by dynamically coupling it to the continuum. Another characteristic time scale, the phase adjustment time, is determined by the resistance of the circuit "seen" by the junction. We show that the 4π periodicity manifests itself by an even-odd effect in Shapiro steps only if the phase adjustment time is shorter than the lifetime of the bound state. The presence of a peak in the current noise spectrum at half the Josephson frequency is a more robust manifestation of the 4π periodicity, as it persists for an arbitrarily long phase adjustment time. We specify, in terms of the circuit parameters, the conditions necessary for observing the manifestations of 4π periodicity in the noise spectrum and Shapiro step measurements.

Ewing-like adamantinoma.

The Ewing-like variation of adamantinoma is a rare entity, leading to challenge its differential diagnosis, notably with Ewing's sarcoma. We are reporting a case of a 20-year-old male who presented with swelling in the left leg that had progressed over a 2-year period. X-rays revealed a tumour in the tibia that was intracortical, osteolytic, multilocular and invaded the soft tissues. A surgical biopsy was performed. Histopathology examination showed a tumour growth with small round cells expressing CD99. A diagnosis of Ewing's sarcoma was made. Since the patient declined surgical treatment, chemotherapy was administered. Two years later, the patient returned because the tumour had grown in size. A second biopsy was performed. Microscopic evaluation showed a tumour growth with osteofibrous and epithelial components, which expressed pankeratin and vimentin, but was negative for CD99. A diagnosis of Ewing-like adamantinoma was made.

Expression patterns of Notch receptors and their ligands in human osteoarthritic and healthy articular cartilage.

Notch pathway plays a pivotal role in cell fate determination. There is much interest surrounding its therapeutic potential, in osteoarthritis, but the expression profile of Notch-related molecules, as well as their relation with cartilage pathological parameters, remains unclear. The purpose of our study is to analyze the expression pattern of Notch family members, type II and type I collagen, in normal (healthy) and osteoarthritic human knee cartilage. Osteoarthritic cartilages were obtained from 3 patients undergoing a total knee replacement. Macroscopically normal cartilage was dissected from 3 human knees at the time of autopsy or surgery. Immunohistochemical staining was performed using Notch1,2,3 and 4, Delta, Jagged, type II collagen and type I collagen antibodies. In healthy cartilage, type II collagen was abundantly expressed while type I was absent. This latter increased proportionally to the osteoarthritic grade. Type II collagen expression remained intense in osteoarthritic cartilage. In healthy cartilage as well as in cartilage with minor lesions, Notch family member's proteins were not or just weakly expressed at the surface and in the cells. However, Notch molecules were over-expressed in osteoarthritic cartilage compared to healthy one. This expression pattern was different according to the cartilage zone and the severity of OA. Our data suggest that Notch signaling is activated in osteoarthritic cartilage, compared to healthy cartilage, with a much more abundant expression in the most damaged areas.

Nonequilibrium Josephson effect through helical edge states.

We study Josephson junctions between superconductors connected through the helical edge states of a two-dimensional topological insulator in the presence of a magnetic barrier. As the equilibrium Andreev bound states of the junction are 4π periodic in the superconducting phase difference, it was speculated that, at finite dc bias voltage, the junction exhibits a fractional Josephson effect with half the Josephson frequency. Using the scattering matrix formalism, we show that his effect is absent in the average current. However, clear signatures can be seen in the finite-frequency current noise. Furthermore, we discuss other manifestations of the Majorana bound states forming at the edges of the superconductors.

HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1-induced Charcot-Marie-Tooth disease.

Charcot-Marie-Tooth disease (CMT) is the most common inherited disorder of the peripheral nervous system. Mutations in the 27-kDa small heat-shock protein gene (HSPB1) cause axonal CMT or distal hereditary motor neuropathy (distal HMN). We developed and characterized transgenic mice expressing two different HSPB1 mutations (S135F and P182L) in neurons only. These mice showed all features of CMT or distal HMN dependent on the mutation. Expression of mutant HSPB1 decreased acetylated α-tubulin abundance and induced severe axonal transport deficits. An increase of α-tubulin acetylation induced by pharmacological inhibition of histone deacetylase 6 (HDAC6) corrected the axonal transport defects caused by HSPB1 mutations and rescued the CMT phenotype of symptomatic mutant HSPB1 mice. Our findings demonstrate the pathogenic role of α-tubulin deacetylation in mutant HSPB1-induced neuropathies and offer perspectives for using HDAC6 inhibitors as a therapeutic strategy for hereditary axonopathies.

Polychlorinated biphenyls in sediments from Ghar El Melh lagoon, Tunisia.

The concentrations of 20 Polychlorinated biphenyls (PCBs) were determined in 12 superficial sediments collected from The Ghar El Melh lagoon. Sediment samples were extracted by Soxhlet and analyzed by Gas chromatography with electron capture detector. The concentrations of PCBs, as sum of the 20 congeners, ranged from not detected to 3.987 ng/g on a dry weight basis, with a predominance of highly chlorinated (penta- and hepta-chlorobiphenyls) congeners. No significant correlation was found between the total PCB concentrations and organic carbon content suggesting that sediment organic carbon content did not play an important role in controlling the PCBs levels in the sediments. PCB levels in sediments were compared with Sediments Quality Guidelines (ERM-ERL indexes) for evaluation probable toxic effects on marine organism. The PCBs concentrations were lower than ERM and ERL values for all the collected samples.

[Dermatofibrosarcoma protuberans in children]. / Dermatofibrosarcome protubérant de l'enfant.

Dermatofibrosarcoma protuberans (DFSP) is a relatively rare skin neoplasm. Usually affecting adults, the incidence in children is even less frequent. Through a report of three pediatric cases of DFSP, we describe the particularities of this tumor in children. Three boys aged 8, 9, and 15 years presented with a firm nodular skin lesion of the trunk, varying in size from 1 to 5 cm. No previous trauma event had occurred. Diagnosis was confirmed in all cases by immunohistological study. Surgical excision was performed in all cases. No recurrence was evident during the follow-up period of, respectively, 15, 36, and 49 months. The DFSP is an infiltrative tumor of intermediate malignancy, with a limited potential for metastasis (<5%) but a high rate of local recurrence (≥ 50%). The incidence in children is even less frequent. In children, its seemingly benign clinical appearance may explain delays in diagnosis; the majority of lesions affect the extremities, suggesting a potential role-played by injury. In our observations, however, as in adults, the trunk was the site of occurrence. Despite the uncertain pathogenesis of this tumor, the finding of certain characteristic histopathological features helps establish an accurate diagnosis. As in adults, surgical treatment with large surgical margins remains the best practice for children with DFSP, directly affecting the prognosis.

A misdiagnosed nail bed melanoma.

Nail bed melanoma or subungual melanoma is frequently misdiagnosed compared to other melanoma in other anatomic sites. We report the case of a 48-year-old woman presenting with a dystrophic and pigmented lesion of her fourth finger nail. This initial presentation had been mistaken for onychomycosis, but biopsy of nail bed and nail matrix confirmed nail bed melanoma. This case is presented to help increase the awareness of atypical presentations of acral melanoma.

Polycyclic aromatic hydrocarbons in superficial sediments from Ghar El Melh lagoon, Tunisia.

The concentrations of 17 polycyclic aromatic hydrocarbons (PAHs) were determined in 12 superficial sediments collected from the Ghar El Melh lagoon. Sediment samples were extracted by Soxhlet, and analyzed by Gas chromatography with flame ionisation detector (FID). PAH concentrations, ranged from 39.59 to 655.28 ng/g on a dry weight. Total PAH concentrations were not correlated with organic carbon (OC) content or grain size (% <63 microm). Special PAH compound ratios, such as Ft/Py and Ft/Ft + Py were calculated to evaluate different hydrocarbon origins and showed that PAHs are derived from pyrolytic process.

Endometrial stromal sarcoma presenting as a cystic abdominal mass.

Endometrial stromal sarcoma (ESS) is rarely localized in extrauterine sites if metastasis or local extension of the primary uterine tumour are excluded, and diagnosis can be delayed because of the unusual site. We report a case of abdominal ESS in a 45-year-old woman who presented with an abdominal complaint. Ultrasound of the abdomen showed a large multiloculated cystic mass. The complete excision of the tumour revealed ESS arising in endometriosis. The tumour expressed hormonal receptors and the patient was administered hormonal therapy. ESS has a better prognosis than the sarcoma that is part of differential diagnosis, and is associated with endometriosis in about one-half of cases.

Primary CD30/ALK-1 positive anaplastic large cell lymphoma of the skeletal muscle in a child.

Anaplastic large cell lymphoma (ALCL) represents approximately 10 to 30% of all childhood non-Hodgkin lymphomas. It frequently involves both lymph nodes and extranodal sites whereas primary or secondary muscular involvements are quite uncommon. We describe a case of an 8-year-old boy presented with one month progressively swelling right buttock mass without association of lymphadenopathy or skin extension. Biopsy of the lesion showed large anaplastic cells with voluminous and abundant cytoplasm as well as folded nuclei. The tumour cells were positive for CD30, CD3, EMA and ALK-1. Chemotherapy resulted in durable remission status. This case emphasizes the occurrence of anaplastic large cell lymphoma in the soft tissue and the favourable outcome of ALK-positive anaplastic large cell lymphoma.