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Sample records for palpebral por ketorolaco

  1. Palpebral fissure changes after monobloc frontofacial advancement in faciocraniosynostosis.

    PubMed

    Cruz, Antonio Augusto V; Akaishi, Patricia Mitiko S; Arnaud, Eric; Marchac, Daniel; Renier, Dominique

    2008-01-01

    There is virtually no literature on the effect of correction of syndromal faciocraniosynostosis with monobloc advancement on the palpebral fissure shape. Using image processing software, we measured the effect of monobloc advancement on the position of the upper and lower eyelids as well as the palpebral fissure slant in a series of 18 patients with syndromal faciocraniosynostosis who had undergone surgery for correction of orbital and midface hypoplasia. For both eyes of each patient, 3 variables were measured on the pre- and postoperative photographs: the linear distances between the upper and lower eyelid margins, the pupil center and the angle between the inner and outer canthi. The globe protrusion was also measured on axial computed tomography scans before and after surgery. The results indicate that the exorbitism reduction induced by monobloc advancement is accompanied by a diminution of the distance between both eyelids and the pupil center. However, the downward slant of the palpebral fissure is increased after surgery. The data suggest that the lower and upper eyelid retraction seen preoperatively in the majority of patients with faciocraniosynostosis tend to be corrected when the frontofacial region is advanced by the monobloc. On the other hand, the surgery tends to lower the outer canthus, increasing the negative slant of the fissure. The postoperative changes induced by the frontofacial monobloc advancement need to be taken into account when the surgery is going to be performed.

  2. Venous Graft for Full-thickness Palpebral Reconstruction

    PubMed Central

    Sanna, Marco Pietro Giuseppe; Maxia, Sara; Esposito, Salvatore; Di Giulio, Stefano; Sartore, Leonardo

    2015-01-01

    Summary: Full-thickness palpebral reconstruction is a challenge for most surgeons. The complex structures composing the eyelid must be reconstructed with care both for functional and cosmetic reasons. It is possible to find in literature different methods to reconstruct either the anterior or posterior lamella, based on graft or flaps. Most patients involved in this kind of surgery are elderly. It is important to use easy and fast procedures to minimize the length of the operation and its complications. In our department, we used to reconstruct the anterior lamella by means of a Tenzel or a Mustardé flap, whereas for the posterior lamella, we previously utilized a chondromucosal graft, harvested from nasal septum. Thus, these procedures required general anesthesia and long operatory time. We started using a vein graft for the posterior lamella. In this article, we present a series of 9 patients who underwent complex palpebral reconstruction for oncological reasons. In 5 patients (group A), we reconstructed the tarsoconjunctival layer by a chondromucosal graft, whereas in 4 patients (group B), we used a propulsive vein graft. The follow-up was from 10 to 20 months. The patient satisfaction was high, and we had no relapse in the series. In group A, we had more complications, including ectropion and septal perforations, whereas in group B, the operation was faster and we noted minor complications. In conclusion, the use of a propulsive vein to reconstruct the tarsoconjunctival layer was a reliable, safe, and fast procedure that can be considered in complex palpebral reconstructions. PMID:26034651

  3. [Lupus erythematosus panniculitis presenting as palpebral edema and parotiditis].

    PubMed

    Pérez-Pastor, G; Valcuende, F; Tomás, G; Moreno, M

    2007-10-01

    Lupus erythematosus panniculitis or lupus erythematosus profundus is characterized by inflammation of the deep dermis and subcutaneous tissue. It can occur in isolation or associated with chronic systemic or discoid lupus erythematosus. It usually consists of nodules and hardened subcutaneous plaques on the forehead, cheeks, proximal extremities, and buttocks. Periorbital and parotid involvement are rare and can lead to misdiagnosis. We present the case of a patient with lupus erythematosus panniculitis who presented with palpebral edema and involvement of the periocular fat and parotid gland.

  4. Determination of palpebral closure using a Hall sensor magnet pair.

    PubMed

    Hamiel, S R; Tubach, M R; Bleicher, J N; Cronan, J C

    1994-02-01

    A small device that can detect eyelid closure was designed using a Hall sensor and magnet. The ability of the sensor to differentiate blinks from saccadic motion is of vital interest in development of a device to alleviate complications of facial nerve paralysis. Twelve physically normal human subjects were used in this study. A small Hall sensor (3 x 2.5 x 1.1 mm), a device that detects magnetic fields, was attached to the lower eyelid near the lid margin, and an opposing small magnet (3 x 2 x 1 mm) was attached to the upper eyelid, also near the lid margin. Output potentials from the Hall sensor were monitored during eye blinks and saccadic eye movements to correlate sensor potentials with eye movements. Results indicate that the Hall sensor is effective at determining palpebral closure and discriminating eye closure from other eye movements. Therefore, we conclude that the Hall sensor is a reliable means for determining palpebral closure and is ideally suited for use in a facial prosthesis that uses the normal blink as a trigger to reanimate the contralateral paralyzed eyelid.

  5. Photodynamic therapy for palpebral and conjunctival proliferative vascular tumors: clinical case report.

    PubMed

    Sanchez, Carlos Gustavo; Caballero Chávez, Yolanda V; Plazola, Sara

    2009-01-01

    Photodynamic therapy (PDT) has been widely used in ophthalmology for the treatment of diverse pathologies, but no experience has been reported in the handling of patients with palpebral vascular and conjunctive malformations with PDT, we describe the case of one patient with a palpebral proliferative vascular tumor, treated successfully using the PDT as a new treatment alternative.

  6. Location and tension of the medial palpebral ligament.

    PubMed

    Hwang, Kun; Huan, Fan; Nam, Yong Seok; Han, Seung Ho; Kim, Dae Joong

    2013-11-01

    The aim of this study was to elucidate the precise anatomic location and tension of the medial palpebral ligament (MPL). Eleven hemifaces of 10 fresh Korean adult cadavers were used in this study. Nine specimens were used for measurement of dissection and tension, and 2 were used for histologic study. Measurements of tensile strength of each part of the MPL and Horner muscle were performed using a force gauge.The MPL consisted of 2 layers in all specimens dissected. The superficial layer of the palpebral ligament (SMPL) was observed from the anterior lacrimal crest to the upper and lower tarsal plates. The deep layer of the palpebral ligament (DMPL) lay from the anterior lacrimal crest to the posterior lacrimal crest, covering the lacrimal sac. The Horner muscle was observed at the posterior lacrimal crest just lateral to the attachment of the DMPL and ran laterally to the tarsal plate deep to the SMPL. The SMPL began at 4.5 ± 2.3 mm lateral to the nasomaxillary suture line to the upper and lower tarsal plates. Its transverse length was 9.6 ± 1.5 mm, and vertical width was 2.4 ± 0.7 mm, and its thickness was 4.5 ± 2.3 mm. The transverse length of the DMPL was 3.7 ± 0.4 mm, and its vertical width was 2.9 ± 1.3 mm, with a thickness of 0.3 ± 0.1 mm. The transverse length of the Horner muscle was 7.6 ± 1.9 mm, and its vertical width was 4.06 ± 1.5 mm, with a thickness of 0.4 ± 0.1 mm. The tensile strength of the SMPL was 13.4 ± 3.2 N, that of the DMPL was 4.1 ± 1.7 N, and that for Horner muscle was 9.0 ± 3.1 N. The tensile strength of the SMPL was significantly higher than that of the DMPL (P = 0.003).We reconfirmed that the MPL consisted of 2 layers: superficial layer and deep layer. Our results might be of use in surgeries of the medial canthi.

  7. Examining palpebral conjunctiva for anemia assessment with image processing methods.

    PubMed

    Chen, Yi-Ming; Miaou, Shaou-Gang; Bian, Hongyu

    2016-12-01

    Examining the hemoglobin level of blood is an important way to achieve the diagnosis of anemia, but it requires blood drawing and blood test. Examining the color distribution of palpebral conjunctiva is a standard procedure of anemia diagnosis, which requires no blood test. However, since color perception is not always consistent among different people, we attempt to imitate the way of physical examination of palpebral conjunctiva to detect anemia, so that computers can identify anemia patients automatically in a consolidated manner for a screening process. In this paper we propose two algorithms for anemia diagnosis. The first algorithm is intended to be simple and fast, while the second one to be more sophisticated and robust, providing an option for different applications. The first algorithm consists of a simple two-stage classifier. In the first stage, we use a thresholding decision technique based on a feature called high hue rate (HHR) (extracted from the HSI color space). In the second stage, a feature called pixel value in the middle (PVM) (extracted from the RGB color space) is proposed, followed by the use of a minimum distance classifier based on Mahalanobis distance. In the second algorithm, we consider 18 possible features, including a newly added entropy feature, some improved features from the first algorithm, and 13 features proposed in a previous work. We use correlation and simple statistics to select 3 relatively independent features (entropy, binarization of HHR, and PVM of G component) for classification using a support vector machine or an artificial neural network. Finally, we evaluate the classification performance of the proposed algorithms in terms of sensitivity, specificity, and Kappa value. The experimental results show relatively good performance and prove the feasibility of our attempt, which may encourage more follow-up study in the future.

  8. Size of the superior palpebral involuntary muscle (Müller muscle).

    PubMed

    Hwang, Kun; Huan, Fan; Kim, Dae Joong; Hwang, Se Ho

    2010-09-01

    The aim of this study was to elucidate the width and length of the superior palpebral muscle by using anti-α-smooth muscle actin antibody. Ten orbits of 5 adult Korean cadavers were used. Eyelids were cut in vertical planes through midpupilliary, medial limbus, and lateral limbus and in horizontal planes at the anterior border of the superior transverse ligament and 2 mm proximal to the upper tarsal border. Superior palpebral muscle was localized using mouse monoclonal anti-α-smooth muscle actin and counterstained with light green for collagen. In enlarged pictures of sections, widths, lengths, and thicknesses of the superior palpebral involuntary muscle were measured with a curved scale and were analyzed. The levator palpebrae superioris muscle was divided into superficial and deep parts below the superior transverse ligament. The levator aponeurosis originated from the superficial part and the superior palpebral muscle originated from the deep part of the levator palpebrae superioris muscle. The aponeurosis was inserted into the upper border of tarsus. The superior palpebral muscle fibers arose 2.71 ± 0.64 mm posterior to the anterior border of the superior transverse ligament. The superior palpebral muscle was trapezoidal. The lengths of its sides were 15.58 ± 1.82 and 22.30 ± 5.25 mm, and its height was 13.70 ± 2.74 mm. The levator aponeurosis covered the superior palpebral muscle anteriorly. The width of the levator aponeurosis was approximately 4 mm wider than the superior palpebral muscle. The thicknesses of the superior palpebral muscle were 0.14 ± 0.13 mm at the anterior border of the superior transverse ligament, 0.45 ± 0.11 mm at the superior fornix level, and 0.10 ± 0.03 mm at the upper border of the tarsal plate. One vascular layer was between the levator aponeurosis and the superior palpebral muscle (upper vascular layer), and the other was between the superior palpebral muscle and the conjunctiva (lower vascular layer). At the superior

  9. Congenital smooth muscle hamartoma of the palpebral conjunctiva.

    PubMed

    Mora, L Evelyn; Rodríguez-Reyes, Abelardo A; Vera, Ana M; Rubio, Rosa Isela; Mayorquín-Ruiz, Mariana; Salcedo, Guillermo

    2012-01-01

    Smooth muscle hamartoma is defined as a disorganized focus or an overgrowth of mature smooth muscle, generally with low capacity of autonomous growth and benign behavior. The implicated tissues are mature and proliferate in a disorganized fashion. A healthy 5-day-old Mexican boy was referred to the authors' hospital in México city for evaluation of a "cystic" lesion of the right eye that had been noted since birth. The pregnancy and delivery were unremarkable. On physical examination, there was a reddish-pink soft lesion with a tender "cystic" appearance, which was probably emerging from the upper eyelid conjunctiva, which measured 2.7 cm in its widest diameter and transilluminated. Ultrasound imaging revealed an anterior "cystic" lesion with normally formed phakic eye. An excisional biopsy was performed, and the lesion was dissected from the upper tarsal subconjunctival space. Subsequent histologic and immunohistochemical findings were consistent with the diagnosis of congenital smooth muscle hamartoma (CSMH) of the tarsal conjunctiva. The authors' research revealed that only one case of CSMH localized in the conjunctiva (Roper GJ, Smith MS, Lueder GT. Congenital smooth muscle hamartoma of the conjunctival fornix. Am J Ophthalmol. 1999;128:643-4) has been reported to date in the literature. To the best of the authors' knowledge, this current case would be the second case reported of CSMH in this anatomic location. Therefore, the authors' recommendation is to include CSMH in the differential diagnosis of a cystic mass that presents in the fornix and palpebral conjunctiva.

  10. Morphological Alterations of the Palpebral Conjunctival Epithelium in a Dry Eye Model

    PubMed Central

    Henriksson, Johanna Tukler; De Paiva, Cintia S.; Farley, William; Pflugfelder, Stephen C.; Burns, Alan R.; Bergmanson, Jan P.G.

    2012-01-01

    Purpose To investigate the normal palpebral conjunctival histology in C57BL/6 mice, and the structural changes that occur in a dry eye model. Methods 24 male and female C57BL/6 mice, 8 untreated (UT) and 16 exposed to experimental ocular surface desiccating stress (DS). Ocular dryness was induced by administration of scopolamine hydrobromide (0.5 mg/0.2 ml) QID for 5 (DS5) or 10 (DS10) days. Counts and measurements were obtained using anatomical reference points and goblet cell density was investigated with a variety of stains. Results Near the junction between the lid margin and the normal palpebral conjunctiva, the epithelium had an average thickness of 45.6±10.5μm, 8.8±2.0 cell layers, versus 37.7±5.6μm, 7.4±1.3 layers in DS10 (P<0.05). In the goblet cell populated palpebral region the normal epithelium was thicker (P<0.05) than in DS5 and DS10. In the control, 43% of the goblet cells were covered by squamous epithelium, compared to 58% (DS5) and 63% (DS10) (P<0.05). A decreased number of Periodic Acid Schiff (PAS) and Alcian blue stained goblet cells was observed in the dry eye. Not all goblet cells stained with PAS and Alcian blue. Conclusions The mouse palpebral conjunctival epithelium was structurally similar to the human. After DS the palpebral conjunctival epithelium decreased in thickness and goblet cell access to the surface appeared to be inhibited by surrounding epithelial cells, potentially slowing down their migration to the surface. Differential staining with PAS and Alcian blue suggests there may be different subtypes of conjunctival goblet cells. PMID:23146932

  11. [Destruction, of traumatic origin, of the orbito-palpebral region and of the nasal pyramid].

    PubMed

    Pons, J; Pasturel, A; Bouillet, D; Martin, J P

    1977-01-01

    Sequelae of nose and orbito-oculo-palpebral destructions from a traumatic origin can present on the therepeutical level under various aspects according to the lesions observed. Accidental damages must indeed be treated by surgical and prosthetic means. The loss of the ocular globe and of its annexes make of these traumatisms an essentially plastic problem, difficult indeed but bringing about satisfactory issues on the whole.

  12. Bilateral orbito-palpebral cysts in a case of cryptophthalmos associated with Fraser syndrome.

    PubMed

    Mocan, Mehmet C; Ozgen, Burce; Irkec, Murat

    2008-04-01

    A 15-month-old girl was referred for evaluation of congenital absence of both eyelids. Clinical evaluation revealed bilateral total cryptophthalmos and enlarged globes in addition to genitourinary anomalies, umbilical hernia, renal agenesis, and facial anomalies. The clinical findings were consistent with Fraser syndrome. Magnetic resonance imaging of the orbits revealed dysplastic globes that were characterized by cystic expansions that extended laterally anterior to the lateral orbital rim. Bilateral orbito-palpebral cysts that communicate with a dysplastic globe and extend beyond the orbital cavity may be a rare presenting feature of Fraser syndrome.

  13. Normal values of inner canthal distance, interpupillary distance and palpebral fissure length in normal Chinese children in Taiwan.

    PubMed

    Wu, K H; Tsai, F J; Li, T C; Tsai, C H; Peng, C T; Wang, T R

    2000-01-01

    Ocular measurements, including inner canthal distance, outer canthal distance, interpupillary distance, and palpebral fissure length are important in the evaluation of congenital deformities and posttraumatic telecanthus. In this research, 4446 normal Chinese children in Taiwan were enrolled in our study. The sample of 284 full term neonates, 2742 infants and children aged from 1 month to 3 years, and 1420 preschool children were measured for inner canthal distance, outer canthal distance, interpupillary distance and palpebral fissure length. We calculated the mean value and standard deviation of the ocular measurements in normal Chinese newborns, infants and preschool children in Taiwan under 5 years. No significant sex differences were observed. Compared with previous studies, inner canthal distance, outer canthal distance and interpupillary distance in Chinese children in Taiwan were wider than those in Caucasian children, but the palpebral fissure length was not significantly different. We also found that inner canthal distance was wider than palpebral fissure length at the same age; therefore it was not correct to diagnose hypertelorism in Chinese children in Taiwan; as if an imaginary third eye could fit between the eyes. Thus, we suggest that measurements should be adjusted with normal standards specific for race. Consideration of the position of eyes is relevant for the diagnosis of a large number of syndromes.

  14. Diffuse reflectance spectra of the palpebral conjunctiva and its utility as a noninvasive indicator of total hemoglobin

    NASA Astrophysics Data System (ADS)

    McMurdy, John W., III; Jay, Gregory D.; Suner, Selim; Trespalacios, Flor; Crawford, Gregory P.

    2006-01-01

    The palpebral conjunctiva is an attractive location to qualitatively examine for the presence of anemia; however, this method of diagnosis has not been shown to be accurate. A spectroscopic examination of the palpebral conjunctiva enables the use of a quantitative parameter as a basis for diagnoses. Visible range diffuse reflectance spectra from the palpebral conjunctiva are examined from 30 patients and hemoglobin levels are extracted from these signatures using both a partial least-squares (PLS) multivariate regression model and a discrete spectral region model. Hemoglobin concentration derived from both these models is compared to an in vitro measurement of hemoglobin. Root mean squared errors of cross validation for the two analytical methods are 0.67 g/dL and 1.07 g/dL, respectively. Conjunctival reflectance spectra coupled with a PLS analysis achieve an enhanced specificity and sensitivity for anemia diagnoses over reported observational studies using the palpebral conjunctiva and achieve improved accuracy to other reported methods of noninvasive hemoglobin measurement.

  15. Palpebral involvement as a presenting and sole manifestation of discoid lupus erythematosus.

    PubMed

    Yaghoobi, Reza; Feily, Amir; Behrooz, Bahar; Yaghoobi, Elena; Mokhtarzadeh, Shabnam

    2010-11-04

    A 28-year-old woman presented with a 2-year history of idiopathic, chronic blepharitis unresponsive to several courses treatment of corticosteroid eye drops. Physical examination was notable for edematous, erythematous plaques of the lower eyelids with madarosis in the absence of preceding skin scarring. Biopsy specimen was obtained and diagnosis of discoid lupus erythematosus (DLE) was made. DLE is a chronic, cutaneous disease that is clinically characterized by a malar rash, acute erythema, and discoid lesions. Localized DLE occurs when the head and neck only are affected, while widespread DLE occurs when other areas are affected, regardless of whether disease of the head and neck is seen. Patients with widespread involvement often have hematologic and serologic abnormalities, are more likely to develop systemic lupus erythematosus, and are more difficult to treat. A number of skin diseases may be confused with DLE, such as psoriasis, seborrheic dermatitis, acne, rosacea, lupus vulgaris, sarcoidosis, Bowen's disease, polymorphous light eruption, lichen planopilaris, dermatomyositis, granuloma annulare, and granuloma faciale. Palpebral lesions may rarely be the presenting or sole manifestation of the disease and lower eyelid involvement is seen in 6% of patients with chronic, cutaneous lupus erythematosus. DLE should therefore be considered as a differential diagnosis in chronic blepharitis or madarosis that persists despite usual medical management and eyelid hygiene. The patient was treated successfully with hydroxychloroquine. The skin lesions resolved with minimal scarring.

  16. Combined Endoscopic and Trans Palpebral Orbital Reconstruction for Silent Sinus Syndrome.

    PubMed

    Tieghi, Riccardo; Malagutti, Nicola; Valente, Luisa; Carnevali, Giulia; Clauser, Luigi C

    2017-01-31

    Silent Sinus Syndrome is defined as a painless spontaneous and progressive enophthalmos and hypoglobus with maxillary sinus hypoplasia and orbital floor resorption. It is caused by maxillary sinus atelectasis in a setting of ipsilateral chronic maxillary sinus hypoventilation. The syndrome was first described in 1964 by Montgomery, but the term "Silent Sinus Syndrome" was not coined until 1994 by Soparkar. The aetiology is still controversial: some authors postulate a basal hypoplastic sinus, other suggest an acquired process due to an obstruction of the ostium in the medium meatus. Silent Sinus Syndrome presents in the third to fifth decades of life, very rarely in childhood with no gender predilection and it is usually a unilateral disorder. The symptoms are not shown to be related to chronic sinuses disease. The clinical signs are: enophthalmos, hypoglobus, upper lid retraction secondary to dystopia of the globe, sinking of the eye and orbital asymmetry, deepened upper lid sulcus, disappearance of the palpebral fold line, lagophthalmos, vertical diplopia, malar depression, and facial asymmetry. Extraocular muscle function is generally preserved and usually there is no visual impairment. The diagnosis is confirmed by computed tomography scan of the orbits and paranasal sinuses. The treatment consists of orbital reconstruction and functional rehabilitation of the maxillary sinuses.

  17. Combined reflectance spectroscopy and stochastic modeling approach for noninvasive hemoglobin determination via palpebral conjunctiva

    PubMed Central

    Kim, Oleg; McMurdy, John; Jay, Gregory; Lines, Collin; Crawford, Gregory; Alber, Mark

    2014-01-01

    Abstract A combination of stochastic photon propagation model in a multilayered human eyelid tissue and reflectance spectroscopy was used to study palpebral conjunctiva spectral reflectance for hemoglobin (Hgb) determination. The developed model is the first biologically relevant model of eyelid tissue, which was shown to provide very good approximation to the measured spectra. Tissue optical parameters were defined using previous histological and microscopy studies of a human eyelid. After calibration of the model parameters the responses of reflectance spectra to Hgb level and blood oxygenation variations were calculated. The stimulated reflectance spectra in adults with normal and low Hgb levels agreed well with experimental data for Hgb concentrations from 8.1 to 16.7 g/dL. The extracted Hgb levels were compared with in vitro Hgb measurements. The root mean square error of cross‐validation was 1.64 g/dL. The method was shown to provide 86% sensitivity estimates for clinically diagnosed anemia cases. A combination of the model with spectroscopy measurements provides a new tool for noninvasive study of human conjunctiva to aid in diagnosing blood disorders such as anemia. PMID:24744871

  18. Anemia detection utilizing diffuse reflectance spectra from the palpebral conjunctiva and tunable liquid crystal filter technology

    NASA Astrophysics Data System (ADS)

    McMurdy, John W., III; Jay, Gregory D.; Suner, Selim; Crawford, Gregory P.

    2006-03-01

    Anemia is a serious worldwide disorder affecting 2 billion people globally. While the only clinically accepted method of diagnosis remains an invasive blood draw and laboratory analysis, numerous attempts have been made to measure total blood hemoglobin noninvasively. Although the palpebral conjunctiva can be used as a poor qualitative indicator of anemia, a quantitative analysis of the conjunctiva using visible diffuse reflectance spectroscopy can provide an accurate and easy method of noninvasive measurement. Preliminary studies using a traditional grating based spectrometer have shown this method of analysis to be effective and accurate at diagnosing anemia and are presented here. An alternative device to collect diffuse reflectance spectroscopy based on tunable liquid crystal technology that is comparatively inexpensive and compact is also presented. Deformed helix ferroelectric liquid crystals (DHFLC) can be tuned fully across the visible spectrum and have a narrow bandwidth of reflection. A handheld microspectrometer facilitates this technique becoming a clinically viable method of analysis and enables total hemoglobin to be measured quickly, and without the need of a blood draw. The rapidity of this test can make total hemoglobin measurement a new vital sign, increasingly important because of the concurrent appearance of anemia with numerous other disorders.

  19. Trans-palpebral illumination: an approach for wide-angle fundus photography without the need for pupil dilation

    PubMed Central

    Toslak, Devrim; Thapa, Damber; Chen, Yanjun; Erol, Muhammet Kazim; Paul Chan, R. V.; Yao, Xincheng

    2016-01-01

    It is technically difficult to construct wide-angle fundus imaging devices due to the complexity of conventional transpupillary illumination and imaging mechanisms. We report here a new method, i.e., trans-palpebral illumination, for wide-angle fundus photography without the need for pupil dilation. By constructing a smartphone-based prototype imaging device, we demonstrated a 152° view in a single-shot image. The unique combination of low-cost smartphone design and automatic illumination optimization promises an affordable solution to conduct telemedicine assessment of eye diseases, which will improve access to eye care for patients in rural and underserved areas. PMID:27304264

  20. Multiple brain parenchymal neurocysticercosis with extraocular muscle cysticercosis affecting levator palpebral superioris and superior rectus complex: an unusual association

    PubMed Central

    Verma, Rajesh; Jaiswal, Anupam

    2013-01-01

    An 8-year-old girl presented to the neurology department with a complaint of insidious onset of left-sided ptosis and restricted elevation of the left eye. A CT scan orbit and brain revealed a ring-enhancing lesion in the levator palpebral superioris (LPS) and superior rectus (SR) muscle complex of the left eye and left parietal and right temporal region. She was started on steroid, followed by albendazole with improvement. The LPS/SR complex is the least common site of involvement among extraocular muscles in ocular cysticercosis. Specially, with brain neurocysticercosis (NCC), it is extremely rare. We report an unusual association of multiple brain NCC with ocular cysticercosis involving LPS and SR muscle. PMID:23355567

  1. Palpebral slant - eye

    MedlinePlus

    ... and syndromes. The most common of these is Down syndrome. People with Down syndrome often also have an epicanthal fold in the ... in some cases, it may be due to: Down syndrome Fetal alcohol syndrome Certain genetic disorders

  2. Portable exhausters POR-004 SKID B, POR-005 SKID C, POR-006 SKID D storage plan

    SciTech Connect

    Nelson, O.D.

    1997-09-04

    This document provides a storage plan for portable exhausters POR-004 SKID B, POR-005 SKID C, AND POR-006 SKID D. The exhausters will be stored until they are needed by the TWRS (Tank Waste Remediation Systems) Saltwell Pumping Program. The storage plan provides criteria for portable exhauster storage, periodic inspections during storage, and retrieval from storage.

  3. [Management of ureteric colic with ketorolac and nifedipin vs. ketorolac and tamsulosin in the emergency room].

    PubMed

    Montiel-Jarquín, Álvaro J; Rocha-Rocha, Valeria M; Solís-Mendoza, Hugo A; Romero-Figueroa, María S; Etchegaray-Morales, Ivet; Alvarado-Ortega, Ivan

    2017-01-01

    Introducción: el cólico renoureteral es la manifestación más común de la litiasis. Se trata de la presencia de cálculos en las papilas renales que frecuentemente migran hacia el uréter, ocasionando un cólico renoureteral, caracterizado por un dolor intenso en la región lumbar o en sus flancos. Se buscó comparar el uso del ketorolaco y nifedipino frente a ketorolaco y tamsulosina para el manejo del dolor ocasionado por litiasis en el tercio inferior del uréter. Métodos: estudio longitudinal en 150 pacientes mayores de 21 años con litiasis en tercio inferior del uréter. Al 50% se le administró ketorolaco y nifedipino y al otro 50% ketorolaco y tamsulosina. Se utilizó la escala numérica de dolor (END) al ingreso, a las 4 y a las 12 horas. La estadística fue descriptiva e inferencial (U de Mann-Whitney-Wilcoxon, chi cuadrada y regresión de Poisson). Resultados: la edad promedio fue 38.17 años y 54.7% de los pacientes fueron hombres. Inicialmente la END tuvo una media de 9.69, de 7.42 a las 4 horas y de 2.05 a las 12 horas. En la medición inicial del dolor no hubo diferencias significativas entre ambos grupos (p > 0.005); 4 y 12 horas después el dolor disminuyó más en los pacientes manejados con ketorolaco y nifedipino: p = 0.0041 y p = 0.000, respectivamente. No hubo complicaciones ni efectos secundarios en ambos tratamientos. Conclusión: la mancuerna ketorolaco y nifedipino es más efectiva que la del ketorolaco y la tamsulosina para el manejo del dolor del cólico renoureteral inferior durante las primeras 12 horas de tratamiento.

  4. [Reduction of omalgia in laparoscopic cholecystectomy: clinical randomized trial ketorolac vs ketorolac and acetazolamide].

    PubMed

    Figueroa-Balderas, Lorena; Franco-López, Francisco; Flores-Álvarez, Efrén; López-Rodríguez, Jorge Luis; Vázquez-García, José Antonio; Barba-Valadez, Claudia Teresa

    2013-01-01

    Antecedentes: la colecistectomía laparoscópica es el patrón de referencia del tratamiento de la colelitiasis sintomática. El 63% de los pacientes operados sufre dolor postquirúrgico referido al hombro (omalgia), circunstancia que limita el tratamiento ambulatorio. Objetivo: evaluar la utilidad de la acetazolamida asociada con ketorolaco para disminuir la omalgia consecutiva al tratamiento de mínima invasión. Material y métodos: ensayo clínico, aleatorizado, doble ciego realizado en pacientes a quienes se efectuó colecistectomía laparoscópica para evaluar la reducción de la omalgia postoperatoria y comparar el efecto de ketorolaco y ketorolaco más acetazolamida. En cada grupo se estudiaron 31 pacientes. El grupo de estudio recibió 250 mg de acetazolamida antes de la inducción anestésica, y 30 mg de ketorolaco en el postoperatorio inmediato. El grupo control recibió una tableta de placebo antes de la inducción anestésica, y 30 mg de ketorolaco en el postoperatorio inmediato. La omalgia se evaluó con la escala visual análoga. Las variables estudiadas incluyeron: edad, sexo, flujo de dióxido de carbono, presión intrabdominal, tiempo quirúrgico, cirugía electiva o urgente, omalgia, intensidad del dolor evaluada con la escala visual análoga y analgesia de rescate. Resultados: los grupos estudiados fueron homogéneos, el análisis estadístico no mostró diferencias en las variables estudiadas. En el grupo de estudio la omalgia coexistió en 9.67% de los pacientes y en el grupo control en 58.06% (p < 0.001). Conclusión: la administración por vía oral de 250 mg de acetazolamida y 30 mg de ketorolaco redujo significativamente la omalgia en los pacientes a quienes se realizó colecistectomía laparoscópica.

  5. Structural Insights into the PorK and PorN Components of the Porphyromonas gingivalis Type IX Secretion System

    PubMed Central

    Gorasia, Dhana G.; Veith, Paul D.; Hanssen, Eric G.; Glew, Michelle D.; Sato, Keiko; Yukitake, Hideharu; Nakayama, Koji; Reynolds, Eric C.

    2016-01-01

    The type IX secretion system (T9SS) has been recently discovered and is specific to Bacteroidetes species. Porphyromonas gingivalis, a keystone pathogen for periodontitis, utilizes the T9SS to transport many proteins including the gingipain virulence factors across the outer membrane and attach them to the cell surface via a sortase-like mechanism. At least 11 proteins have been identified as components of the T9SS including PorK, PorL, PorM, PorN and PorP, however the precise roles of most of these proteins have not been elucidated and the structural organization of these components is unknown. In this study, we purified PorK and PorN complexes from P. gingivalis and using electron microscopy we have shown that PorN and the PorK lipoprotein interact to form a 50 nm diameter ring-shaped structure containing approximately 32–36 subunits of each protein. The formation of these rings was dependent on both PorK and PorN, but was independent of PorL, PorM and PorP. PorL and PorM were found to form a separate stable complex. PorK and PorN were protected from proteinase K cleavage when present in undisrupted cells, but were rapidly degraded when the cells were lysed, which together with bioinformatic analyses suggests that these proteins are exposed in the periplasm and anchored to the outer membrane via the PorK lipid. Chemical cross-linking and mass spectrometry analyses confirmed the interaction between PorK and PorN and further revealed that they interact with the PG0189 outer membrane protein. Furthermore, we established that PorN was required for the stable expression of PorK, PorL and PorM. Collectively, these results suggest that the ring-shaped PorK/N complex may form part of the secretion channel of the T9SS. This is the first report showing the structural organization of any T9SS component. PMID:27509186

  6. Structural Insights into the PorK and PorN Components of the Porphyromonas gingivalis Type IX Secretion System.

    PubMed

    Gorasia, Dhana G; Veith, Paul D; Hanssen, Eric G; Glew, Michelle D; Sato, Keiko; Yukitake, Hideharu; Nakayama, Koji; Reynolds, Eric C

    2016-08-01

    The type IX secretion system (T9SS) has been recently discovered and is specific to Bacteroidetes species. Porphyromonas gingivalis, a keystone pathogen for periodontitis, utilizes the T9SS to transport many proteins including the gingipain virulence factors across the outer membrane and attach them to the cell surface via a sortase-like mechanism. At least 11 proteins have been identified as components of the T9SS including PorK, PorL, PorM, PorN and PorP, however the precise roles of most of these proteins have not been elucidated and the structural organization of these components is unknown. In this study, we purified PorK and PorN complexes from P. gingivalis and using electron microscopy we have shown that PorN and the PorK lipoprotein interact to form a 50 nm diameter ring-shaped structure containing approximately 32-36 subunits of each protein. The formation of these rings was dependent on both PorK and PorN, but was independent of PorL, PorM and PorP. PorL and PorM were found to form a separate stable complex. PorK and PorN were protected from proteinase K cleavage when present in undisrupted cells, but were rapidly degraded when the cells were lysed, which together with bioinformatic analyses suggests that these proteins are exposed in the periplasm and anchored to the outer membrane via the PorK lipid. Chemical cross-linking and mass spectrometry analyses confirmed the interaction between PorK and PorN and further revealed that they interact with the PG0189 outer membrane protein. Furthermore, we established that PorN was required for the stable expression of PorK, PorL and PorM. Collectively, these results suggest that the ring-shaped PorK/N complex may form part of the secretion channel of the T9SS. This is the first report showing the structural organization of any T9SS component.

  7. [Efficacy of topical ketorolac for improving visual function after photocoagulation in diabetic patients with focal macular edema].

    PubMed

    Razo Blanco-Hernández, Dulce Milagros; Lima-Gómez, Virgilio; Asbun-Bojalil, Juan

    2014-01-01

    Antecedentes: la fotocoagulación reduce la incidencia de pérdida visual en diabéticos con edema macular focal, aunque puede inducirla durante 6 semanas; la mejoría visual después del tratamiento es excepcional. El ketorolaco tópico puede limitar la inflamación causada por la fotocoagulación, y mejorar el desenlace visual. Objetivo: determinar la eficacia del ketorolaco tópico en la mejoría de la función visual después de la fotocoagulación, en diabéticos con edema macular focal. Material y métodos: estudio experimental, comparativo, prospectivo, longitudinal efectuado en diabéticos con edema macular focal, asignados al azar a dos grupos de tratamiento tópico durante 3 semanas después de la fotocoagulación (A: ketorolaco, B: placebo). En cada grupo se comparó la agudeza visual antes y después del tratamiento (t pareada) y entre grupos la proporción de ojos con mejoría visual (χ(2)). La evaluación se repitió con estratificación por agudeza visual inicial (≥ 0.5, < 0.5). Resultados: se analizaron 105 ojos; en el grupo A (n= 46) el promedio de agudeza visual cambió de 0.50 a 0.58 (p= 0.003), en el B (n= 59) de 0.55 a 0.55 (p= 0.83); el promedio del cambio porcentual fue 22.3% en el grupo A y 3.5% en el B (p= 0.03). Hubo mejoría visual en 25 ojos del grupo A (54.3%) y 19 del B (32.2%, p= 0.019, RR 1.65); la diferencia persistió cuando la agudeza visual inicial era ≥ 0.5 (10 [40%], grupo A, 5 [14.7%], grupo B, p= 0.02, RR 2.72). Conclusiones: el ketorolaco fue más eficaz que el placebo para mejorar la agudeza visual en pacientes diabéticos con edema macular focal.

  8. The PorX Response Regulator of the Porphyromonas gingivalis PorXY Two-Component System Does Not Directly Regulate the Type IX Secretion Genes but Binds the PorL Subunit

    PubMed Central

    Vincent, Maxence S.; Durand, Eric; Cascales, Eric

    2016-01-01

    The Type IX secretion system (T9SS) is a versatile multi-protein complex restricted to bacteria of the Bacteriodetes phylum and responsible for the secretion or cell surface exposition of diverse proteins that participate to S-layer formation, gliding motility or pathogenesis. The T9SS is poorly characterized but a number of proteins involved in the assembly of the secretion apparatus in the oral pathogen Porphyromonas gingivalis have been identified based on genome substractive analyses. Among these proteins, PorY, and PorX encode typical two-component system (TCS) sensor and CheY-like response regulator respectively. Although the porX and porY genes do not localize at the same genetic locus, it has been proposed that PorXY form a bona fide TCS. Deletion of porX in P. gingivalis causes a slight decrease of the expression of a number of other T9SS genes, including sov, porT, porP, porK, porL, porM, porN, and porY. Here, we show that PorX and the soluble cytoplasmic domain of PorY interact. Using electrophoretic mobility shift, DNA-protein co-purification and heterologous host expression assays, we demonstrate that PorX does not bind T9SS gene promoters and does not directly regulate expression of the T9SS genes. Finally, we show that PorX interacts with the cytoplasmic domain of PorL, a component of the T9SS membrane core complex and propose that the CheY-like PorX protein might be involved in the dynamics of the T9SS. PMID:27630829

  9. System design description for portable 1,000 CFM exhauster Skids POR-007/Skid E and POR-008/Skid F

    SciTech Connect

    Nelson, O.D.

    1998-07-25

    The primary purpose of the two 1,000 CFM Exhauster Skids, POR-007-SKID E and POR-008-SKID F, is to provide backup to the waste tank primary ventilation systems for tanks 241-C-106 and 241-AY-102, and the AY-102 annulus in the event of a failure during the sluicing of tank 241-C-106 and subsequent transfer of sluiced waste to 241-AY-102. This redundancy is required since both of the tank ventilation systems have been declared as Safety Class systems.

  10. Click-chemistry approach to study mycoloylated proteins: Evidence for PorB and PorC porins mycoloylation in Corynebacterium glutamicum.

    PubMed

    Issa, Hanane; Huc-Claustre, Emilie; Reddad, Thamila; Bonadé Bottino, Nolwenn; Tropis, Maryelle; Houssin, Christine; Daffé, Mamadou; Bayan, Nicolas; Dautin, Nathalie

    2017-01-01

    Protein mycoloylation is a recently identified, new form of protein acylation. This post-translational modification consists in the covalent attachment of mycolic acids residues to serine. Mycolic acids are long chain, α-branched, β-hydroxylated fatty acids that are exclusively found in the cell envelope of Corynebacteriales, a bacterial order that includes important genera such as Mycobacterium, Nocardia or Corynebacterium. So far, only 3 mycoloylated proteins have been identified: PorA, PorH and ProtX from C. glutamicum. Whereas the identity and function of ProtX is unknown, PorH and PorA associate to form a membrane channel, the activity of which is dependent upon PorA mycoloylation. However, the exact role of mycoloylation and the generality of this phenomenon are still unknown. In particular, the identity of other mycoloylated proteins, if any, needs to be determined together with establishing whether such modification occurs in Corynebacteriales genera other than Corynebacterium. Here, we tested whether a metabolic labeling and click-chemistry approach could be used to detect mycoloylated proteins. Using a fatty acid alkyne analogue, we could indeed label PorA, PorH and ProtX and determine ProtX mycoloylation site. Importantly, we also show that two other porins from C. glutamicum, PorB and PorC are mycoloylated.

  11. Click-chemistry approach to study mycoloylated proteins: Evidence for PorB and PorC porins mycoloylation in Corynebacterium glutamicum

    PubMed Central

    Issa, Hanane; Huc-Claustre, Emilie; Reddad, Thamila; Bonadé Bottino, Nolwenn; Tropis, Maryelle; Houssin, Christine; Daffé, Mamadou; Bayan, Nicolas

    2017-01-01

    Protein mycoloylation is a recently identified, new form of protein acylation. This post-translational modification consists in the covalent attachment of mycolic acids residues to serine. Mycolic acids are long chain, α-branched, β-hydroxylated fatty acids that are exclusively found in the cell envelope of Corynebacteriales, a bacterial order that includes important genera such as Mycobacterium, Nocardia or Corynebacterium. So far, only 3 mycoloylated proteins have been identified: PorA, PorH and ProtX from C. glutamicum. Whereas the identity and function of ProtX is unknown, PorH and PorA associate to form a membrane channel, the activity of which is dependent upon PorA mycoloylation. However, the exact role of mycoloylation and the generality of this phenomenon are still unknown. In particular, the identity of other mycoloylated proteins, if any, needs to be determined together with establishing whether such modification occurs in Corynebacteriales genera other than Corynebacterium. Here, we tested whether a metabolic labeling and click-chemistry approach could be used to detect mycoloylated proteins. Using a fatty acid alkyne analogue, we could indeed label PorA, PorH and ProtX and determine ProtX mycoloylation site. Importantly, we also show that two other porins from C. glutamicum, PorB and PorC are mycoloylated. PMID:28199365

  12. Por La Vida intervention model for cancer prevention in Latinas.

    PubMed

    Navarro, A M; Senn, K L; Kaplan, R M; McNicholas, L; Campo, M C; Roppe, B

    1995-01-01

    Our goal was to describe the development and implementation of an intervention on cancer prevention for Latinas in San Diego, Calif. Thirty-six lay community workers ("consejeras") were recruited and trained to conduct educational group sessions. Each consejera recruited approximately 14 peers from the community to participate in the program (total number = 512). Half of the consejeras were randomly assigned to a control group, in which they participated in an equally engaging program entitled "Community Living Skills." Implementation of the intervention was assessed by qualitative and quantitative methods. Preintervention and postintervention self-report information was obtained from project participants on access to health care services, cancer knowledge, preventive measures, and previous cancer-screening examinations. Base-line data suggest that lack of knowledge, costs of cancer-screening tests, and the lack of a regular health care provider are the major obstacles against obtaining cancer-screening tests. Predisposing factors, such as fear and embarrassment, also constitute barriers to getting regular cervical cancer screening. Preliminary analysis indicates that the Por La Vida intervention increases use of cancer-screening tests in comparison to a community living skills control group. Universal access to health care would remove some of the major financial barriers to cancer screening. The Por La Vida program attempts to overcome the substantial barriers by reaching out to low-income Latinas and by providing information regarding the availability, acceptability, and preventive nature of cancer-screening tests.

  13. Compton imaging with the PorGamRays spectrometer

    NASA Astrophysics Data System (ADS)

    Judson, D. S.; Boston, A. J.; Coleman-Smith, P. J.; Cullen, D. M.; Hardie, A.; Harkness, L. J.; Jones, L. L.; Jones, M.; Lazarus, I.; Nolan, P. J.; Pucknell, V.; Rigby, S. V.; Seller, P.; Scraggs, D. P.; Simpson, J.; Slee, M.; Sweeney, A.; PorGamRays Collaboration

    2011-10-01

    The PorGamRays project aims to develop a portable gamma-ray detection system with both spectroscopic and imaging capabilities. The system is designed around a stack of thin Cadmium Zinc Telluride (CZT) detectors. The imaging capability utilises the Compton camera principle. Each detector is segmented into 100 pixels which are read out through custom designed Application Specific Integrated Circuits (ASICs). This device has potential applications in the security, decommissioning and medical fields. This work focuses on the near-field imaging performance of a lab-based demonstrator consisting of two pixelated CZT detectors, each of which is bonded to a NUCAM II ASIC. Measurements have been made with point 133Ba and 57Co sources located ˜35 mm from the surface of the scattering detector. Position resolution of ˜20 mm FWHM in the x and y planes is demonstrated.

  14. Penetrating palpebral grass awn in a dog: Unusual case of a penetrating grass awn in an eyelid.

    PubMed

    Marchegiani, Andrea; Fruganti, Alessandro; Cerquetella, Matteo; Cassarani, Maria Paola; Laus, Fulvio; Spaterna, Andrea

    2017-03-01

    An unusual case of a penetrating grass awn in an eyelid of a dog is reported. A 6-month-old mixed breed dog was referred to the Ophthalmology Unit of the Veterinary Teaching Hospital of Camerino University for anorexia, lethargy, left monolateral ocular swelling and pain to the left eye, present from 1 month. Ophthalmic examination of the left eye showed copious and purulent discharge, and ultrasonography revealed the presence of an abscess containing a grass foreign body. The grass awn was surgically removed. Three days after surgery, the dog showed a marked improvement, with a total resolution obtained in 7 days. To the authors' knowledge, penetrating foreign bodies such as the one of this paper have never been described before in literature.

  15. [Assessing severe maternal anemia and its consequences: the value of a simple examination of the coloration of palpebral conjunctiva].

    PubMed

    Meda, N; Dao, Y; Touré, B; Yameogo, B; Cousens, S; Graham, W

    1999-01-01

    The aims of this study were: (1) to investigate the relationship between pre-delivery hemoglobin (Hb) concentration and the outcome of the pregnancy for the mother and child and (2) to assess the extent to which the pallor of the conjunctiva indicates severe anemia in pregnancy (Hb < 7 g/dl). We carried out a prospective study in 1995, in the maternity department of the National Sourô Sanou Hospital (Bobo-Dioulasso, Burkina Faso). Women arriving to give birth at the maternity unit gave verbal consent and underwent a physical examination including the assessment of conjunctiva coloration. Finger-prick blood samples were taken from all the women selected and Hb was determined with a portable hemoglobin meter (HemoCue AB, Sweden). For each woman, information about age, obstetric history, the condition of mother and child at admission and delivery and any post-delivery complications in the first 48 hours was collected before discharge from the maternity unit, 3 to 5 days after the delivery. Women with multiple pregnancies were excluded from the study and 247 women were included overall. Endometriosis was observed in only three cases. Three women died, two due to septic shock. The third woman died from hypovolemic shock. The Hb concentrations of these women were 8 g/dl, 10.2 g/dl and 2.6 g/dl respectively. The mean Hb concentration for our population was 10.1 g/dl (SD = 2.08), with 165 women (67%) having less than 11 g Hb/dl. Forty-one women (17%) had less than 9 g Hb/dl and 16 (6%) had less than 7 g Hb/dl. Severe maternal anemia and pallor of the conjunctiva were significantly associated with pre-term delivery and perinatal death, but not with low birth weight. The sensitivity of the pallor of the conjunctiva for detection of severe maternal anemia was 87%, and its specificity was 88%. We found no evidence that maternal Hb levels of 9 to 10.9 g/dl were associated with a high risk of poor pregnancy outcome for either the mother or the child, although women with such levels of Hb are classed as anemic by the World Health Organization criteria. These results show that poor pregnancy outcome is associated with severe maternal anemia. Examination of the coloration of the conjunctiva is a suitable and affordable screening method for the detection of severe anemia. Mothers with severe anemia present with signs and symptoms of anemia and could therefore be given iron treatment to improve their health. This demonstrates the importance of nutritional intervention during pregnancy.

  16. Gliding motility and Por secretion system genes are widespread among members of the phylum bacteroidetes.

    PubMed

    McBride, Mark J; Zhu, Yongtao

    2013-01-01

    The phylum Bacteroidetes is large and diverse, with rapid gliding motility and the ability to digest macromolecules associated with many genera and species. Recently, a novel protein secretion system, the Por secretion system (PorSS), was identified in two members of the phylum, the gliding bacterium Flavobacterium johnsoniae and the nonmotile oral pathogen Porphyromonas gingivalis. The components of the PorSS are not similar in sequence to those of other well-studied bacterial secretion systems. The F. johnsoniae PorSS genes are a subset of the gliding motility genes, suggesting a role for the secretion system in motility. The F. johnsoniae PorSS is needed for assembly of the gliding motility apparatus and for secretion of a chitinase, and the P. gingivalis PorSS is involved in secretion of gingipain protease virulence factors. Comparative analysis of 37 genomes of members of the phylum Bacteroidetes revealed the widespread occurrence of gliding motility genes and PorSS genes. Genes associated with other bacterial protein secretion systems were less common. The results suggest that gliding motility is more common than previously reported. Microscopic observations confirmed that organisms previously described as nonmotile, including Croceibacter atlanticus, "Gramella forsetii," Paludibacter propionicigenes, Riemerella anatipestifer, and Robiginitalea biformata, exhibit gliding motility. Three genes (gldA, gldF, and gldG) that encode an apparent ATP-binding cassette transporter required for F. johnsoniae gliding were absent from two related gliding bacteria, suggesting that the transporter may not be central to gliding motility.

  17. An investigation of exploitation versus exploration in GBEA optimization of PORS 15 and 16 Problems

    SciTech Connect

    Koch, Kaelynn

    2012-01-01

    It was hypothesized that the variations in time to solution are driven by the competing mechanisms of exploration and exploitation.This thesis explores this hypothesis by examining two contrasting problems that embody the hypothesized tradeoff between exploration and exploitation. Plus one recall store (PORS) is an optimization problem based on the idea of a simple calculator with four buttons: plus, one, store, and recall. Integer addition and store are classified as operations, and one and memory recall are classified as terminals. The goal is to arrange a fixed number of keystrokes in a way that maximizes the numerical result. PORS 15 (15 keystrokes) represents the subset of difficult PORS problems and PORS 16 (16 keystrokes) represents the subset of PORS problems that are easiest to optimize. The goal of this work is to examine the tradeoff between exploitation and exploration in graph based evolutionary algorithm (GBEA) optimization. To do this, computational experiments are used to examine how solutions evolve in PORS 15 and 16 problems when solved using GBEAs. The experiment is comprised of three components; the graphs and the population, the evolutionary algorithm rule set, and the example problems. The complete, hypercube, and cycle graphs were used for this experiment. A fixed population size was used.

  18. Crystallographic analysis of Neisseria meningitidis PorB extracellular loops potentially implicated in TLR2 recognition

    PubMed Central

    Kattner, Christof; Toussi, Deana; Zaucha, Jan; Wetzler, Lee M.; Rüppel, Nadine; Zachariae, Ulrich; Massari, Paola; Tanabe, Mikio

    2014-01-01

    Among all Neisseriae species, N. meningitidis and N. gonorrhoeae are the only human pathogens, causative agents of bacterial meningitis and gonorrhoea, respectively. PorB, a pan-Neisseriae trimeric porin that mediates diffusive transport of essential molecules across the bacterial outer membrane, is also known to activate host innate immunity via Toll-like receptor 2 (TLR2)-mediated signaling. The molecular mechanism of PorB binding to TLR2 is not known, but it has been hypothesized that electrostatic interactions contribute to ligand/receptor binding. Strain-specific sequence variability in the surface-exposed loops of PorB which are potentially implicated in TLR2 binding, may explain the difference in TLR2-mediated cell activation in vitro by PorB homologs from the commensal N. lactamica and the pathogen N. meningitidis. Here, we report a comparative structural analysis of PorB from N. meningitidis serogroup B strain 8765 (63% sequence homology with PorB from N. meningitidis serogroup W135) and a mutant in which amino acid substitutions in the extracellular loop 7 lead to significantly reduced TLR2-dependent activity in vitro. We observe that this mutation both alters the loop conformation and causes dramatic changes of electrostatic surface charge, both of which may affect TLR2 recognition and signalling. PMID:24361688

  19. Por Secretion System-Dependent Secretion and Glycosylation of Porphyromonas gingivalis Hemin-Binding Protein 35

    PubMed Central

    Shoji, Mikio; Sato, Keiko; Yukitake, Hideharu; Kondo, Yoshio; Narita, Yuka; Kadowaki, Tomoko; Naito, Mariko; Nakayama, Koji

    2011-01-01

    The anaerobic Gram-negative bacterium Porphyromonas gingivalis is a major pathogen in severe forms of periodontal disease and refractory periapical perodontitis. We have recently found that P. gingivalis has a novel secretion system named the Por secretion system (PorSS), which is responsible for secretion of major extracellular proteinases, Arg-gingipains (Rgps) and Lys-gingipain. These proteinases contain conserved C-terminal domains (CTDs) in their C-termini. Hemin-binding protein 35 (HBP35), which is one of the outer membrane proteins of P. gingivalis and contributes to its haem utilization, also contains a CTD, suggesting that HBP35 is translocated to the cell surface via the PorSS. In this study, immunoblot analysis of P. gingivalis mutants deficient in the PorSS or in the biosynthesis of anionic polysaccharide-lipopolysaccharide (A-LPS) revealed that HBP35 is translocated to the cell surface via the PorSS and is glycosylated with A-LPS. From deletion analysis with a GFP-CTD[HBP35] green fluorescent protein fusion, the C-terminal 22 amino acid residues of CTD[HBP35] were found to be required for cell surface translocation and glycosylation. The GFP-CTD fusion study also revealed that the CTDs of CPG70, peptidylarginine deiminase, P27 and RgpB play roles in PorSS-dependent translocation and glycosylation. However, CTD-region peptides were not found in samples of glycosylated HBP35 protein by peptide map fingerprinting analysis, and antibodies against CTD-regions peptides did not react with glycosylated HBP35 protein. These results suggest both that the CTD region functions as a recognition signal for the PorSS and that glycosylation of CTD proteins occurs after removal of the CTD region. Rabbits were used for making antisera against bacterial proteins in this study. PMID:21731719

  20. Molecular characterisation of Porcine rubulavirus (PorPV) isolates from different outbreaks in Mexico.

    PubMed

    Cuevas-Romero, S; Rivera-Benítez, J F; Blomström, A-L; Ramliden, M; Hernández-Baumgarten, E; Hernández-Jáuregui, P; Ramírez-Mendoza, H; Berg, M

    2016-02-01

    Since the report of the initial outbreak of Porcine rubulavirus (PorPV) infection in pigs, only one full-length genome from 1984 (PorPV-LPMV/1984) has been characterised. To investigate the overall genetic variation, full-length gene nucleotide sequences of current PorPV isolates were obtained from different clinical cases of infected swine. Genome organisation and sequence analysis of the encoded proteins (NP, P, F, M, HN and L) revealed high sequence conservation of the NP protein and the expression of the P and V proteins in all PorPV isolates. The V protein of one isolate displayed a mutation that has been implicated to antagonise the antiviral immune responses of the host. The M protein indicated a variation in a short region that could affect the electrostatic charge and the interaction with the membrane. One PorPV isolate recovered from the lungs showed a mutation at the cleavage site (HRKKR) of the F protein that could represent an important factor to determine the tissue tropism and pathogenicity of this virus. The HN protein showed high sequence identity through the years (up to 2013). Additionally, a number of sequence motifs of very high amino acid conservation among the PorPV isolates important for polymerase activity of the L protein have been identified. In summary, genetic comparisons and phylogenetic analyses indicated that three different genetic variants of PorPV are currently spreading within the swine population, and a new generation of circulating virus with different characteristics has begun to emerge.

  1. In silico studies of outer membrane of Neisseria meningitidis por a: its expression and immunogenic properties.

    PubMed

    Behrouzi, Ava; Bouzari, Saeid; Siadat, Seyed Davar; Irani, Shiva

    2014-01-01

    Neisseria meningitidis is a major causative agent of bacterial septicemia and meningitis in humans. Currently, there are no vaccines to prevent disease caused by strains of N.meningitidis serogroup B. The Class 1 Outer Membrane Protein (OMP) has been named porA which is a cation selective transmembrane protein of 45 KDa that forms trimeric pore in the meningococcal outer membrane. PorA from serogroup B N. meningitidis was cloned into prokaryotic expression vector pBAD-gIIIA. Recombinant protein was expressed with arabinose and affinity purified by Ni-NTA agarose, SDS-PAGE and western blotting were performed for protein determination and verification. BALB/c mice were immunized subcutaneously with purified rPorA together with alum adjuvant. Serum antibody responses to serogroups B N.meningitidis were determined by ELISA. Serum IgG response significantly increased in the group immunized with rPorA together with alum adjuvant in comparison with control groups. These results suggest that rPorA can be a potential vaccine candidate for serogroup B N.meningitidis.

  2. In Silico Studies of Outer Membrane of Neisseria Meningitidis Por A: Its Expression and Immunogenic Properties

    PubMed Central

    Behrouzi, Ava; Bouzari, Saeid; Siadat, Seyed Davar; Irani, Shiva

    2014-01-01

    Neisseria meningitidis is a major causative agent of bacterial septicemia and meningitis in humans. Currently, there are no vaccines to prevent disease caused by strains of N.meningitidis serogroup B. The Class 1 Outer Membrane Protein (OMP) has been named porA which is a cation selective transmembrane protein of 45 KDa that forms trimeric pore in the meningococcal outer membrane. PorA from serogroup B N. meningitidis was cloned into prokaryotic expression vector pBAD-gIIIA. Recombinant protein was expressed with arabinose and affinity purified by Ni-NTA agarose, SDS-PAGE and western blotting were performed for protein determination and verification. BALB/c mice were immunized subcutaneously with purified rPorA together with alum adjuvant. Serum antibody responses to serogroups B N.meningitidis were determined by ELISA. Serum IgG response significantly increased in the group immunized with rPorA together with alum adjuvant in comparison with control groups. These results suggest that rPorA can be a potential vaccine candidate for serogroup B N.meningitidis. PMID:25317403

  3. PorA Represents the Major Cell Wall Channel of the Gram-Positive Bacterium Corynebacterium glutamicum

    PubMed Central

    Costa-Riu, Noelia; Burkovski, Andreas; Krämer, Reinhard; Benz, Roland

    2003-01-01

    The cell wall of the gram-positive bacterium Corynebacterium glutamicum contains a channel (porin) for the passage of hydrophilic solutes. The channel-forming polypeptide PorA is a 45-amino-acid acidic polypeptide with an excess of four negatively charged amino acids, which is encoded by the 138-bp gene porA. porA was deleted from the chromosome of C.glutamicum wild-type strain ATCC 13032 to obtain mutant ATCC 13032ΔporA. Southern blot analysis demonstrated that porA was deleted. Lipid bilayer experiments revealed that PorA was not present in the cell wall of the mutant strain. Searches within the known chromosome of C. glutamicum by using National Center for Biotechnology Information BLAST and reverse transcription-PCR showed that no other PorA-like protein is encoded on the chromosome or is expressed in the deletion strain. The porA deletion strain exhibited slower growth and longer growth times than the C. glutamicum wild-type strain. Experiments with different antibiotics revealed that the susceptibility of the mutant strain was much lower than that of the wild-type C. glutamicum strain. The results presented here suggest that PorA represents a major hydrophilic pathway through the cell wall and that C. glutamicum contains cell wall channels which are not related to PorA. PMID:12896997

  4. Oral administration of recombinant Neisseria meningitidis PorA genetically fused to H. pylori HpaA antigen increases antibody levels in mouse serum, suggesting that PorA behaves as a putative adjuvant

    PubMed Central

    Vasquez, Abel E; Manzo, Ricardo A; Soto, Daniel A; Barrientos, Magaly J; Maldonado, Aurora E; Mosqueira, Macarena; Avila, Anastasia; Touma, Jorge; Bruce, Elsa; Harris, Paul R; Venegas, Alejandro

    2015-01-01

    The Neisseria meningitidis outer membrane protein PorA from a Chilean strain was purified as a recombinant protein. PorA mixed with AbISCO induced bactericidal antibodies against N. meningitidis in mice. When PorA was fused to the Helicobacter pylori HpaA antigen gene, the specific response against H. pylori protein increased. Splenocytes from PorA-immunized mice were stimulated with PorA, and an increase in the secretion of IL-4 was observed compared with that of IFN-γ. Moreover, in an immunoglobulin sub-typing analysis, a substantially higher IgG1 level was found compared with IgG2a levels, suggesting a Th2-type immune response. This study revealed a peculiar behavior of the purified recombinant PorA protein per se in the absence of AbISCO as an adjuvant. Therefore, the resistance of PorA to proteolytic enzymes, such as those in the gastrointestinal tract, was analyzed, because this is an important feature for an oral protein adjuvant. Finally, we found that PorA fused to the H. pylori HpaA antigen, when expressed in Lactococcus lactis and administered orally, could enhance the antibody response against the HpaA antigen approximately 3 fold. These observations strongly suggest that PorA behaves as an effective oral adjuvant. PMID:25750999

  5. Variation in the Neisseria lactamica porin, and its relationship to meningococcal PorB.

    PubMed

    Bennett, Julia S; Callaghan, Martin J; Derrick, Jeremy P; Maiden, Martin C J

    2008-05-01

    One potential vaccine strategy in the fight against meningococcal disease involves the exploitation of outer-membrane components of Neisseria lactamica, a commensal bacterium closely related to the meningococcus, Neisseria meningitidis. Although N. lactamica shares many surface structures with the meningococcus, little is known about the antigenic diversity of this commensal bacterium or the antigenic relationships between N. lactamica and N. meningitidis. Here, the N. lactamica porin protein (Por) was examined and compared to the related PorB antigens of N. meningitidis, to investigate potential involvement in anti-meningococcal immunity. Relationships among porin sequences were determined using distance-based methods and F(ST), and maximum-likelihood analyses were used to compare the selection pressures acting on the encoded proteins. These analyses demonstrated that the N. lactamica porin was less diverse than meningococcal PorB and although it was subject to positive selection, this was not as strong as the positive selection pressures acting on the meningococcal porin. In addition, the N. lactamica porin gene sequences and the protein sequences of the loop regions predicted to be exposed to the human immune system were dissimilar to the corresponding sequences in the meningococcus. This suggests that N. lactamica Por, contrary to previous suggestions, may have limited involvement in the development of natural immunity to meningococcal disease and might not be effective as a meningococcal vaccine component.

  6. Detección y estudio mediante Fluorescencia Inducida por Láser de radicales libres formados por Disociación Multifotónica Infrarroja

    NASA Astrophysics Data System (ADS)

    Santos, M.; Díaz, L.; Torresano, J. A.; Rubio, L.; Samoudi, B.

    Una de las principales aplicaciones actuales de los procesos de disociación multifotónica inducidos por radiación láser infrarroja (DMI) es la producción de radiales libres, con el fin de estudiar sus propiedades cinéticas y espectroscópicas. La disociación de moléculas poliatómicas en el IR con láseres de CO2 tiene lugar desde la superficie de energía molecular mas baja y conduce generalmente a la formación de fragmentos en el estado electrónico fundamental, con diversos grados de excitación vibracional. En el Grupo de Procesos Multifotónicos del Instituto de Estructura de la Materia del C.S.I.C. hemos puesto a punto la técnica de Fluorescencia Inducida por Láser (LIF) para la detección y análisis en tiempo real de los fragmentos producidos en la DMI inducida mediante uno o dos campos láseres de diferentes longitudes de onda. Objetivos de nuestro trabajo han sido el estudio de los canales de disociación mayoritarios y de las especies transitoria producidas, así como de la distribución de energía interna con que éstas son generadas. En particular hemos detectado mediante LIF las especies: C2, CF, CH, SiH2, CF2, CH2, SiHCl, y CF3 a partir de la disociación de, entre otras, las siguientes moléculas: C2H3Br, C3F6, C4H8Si, C2H5ClSi y CH5ClSi. En este trabajo presentamos algunos de los resultados obtenidos mediante el estudio por LIF de estos radicales: estudio temporal de la señal LIF obtenida con determinación de tiempos de vida, espectros de excitación y fluorescencia, temperaturas vibracionales de formación, variación de la intensidad LIF con el tiempo de retraso entre los láseres de disociación y prueba, etc.

  7. Methodology for obtaining stakeholder assessments of obesity policy options in the PorGrow project.

    PubMed

    Stirling, A; Lobstein, T; Millstone, E

    2007-05-01

    The Policy Options for Responding to the Growing Challenge of Obesity Research Project (PorGrow) study provided a unique opportunity to develop a large-scale application of a semi-quantitative technique for exploring interviewees' views on options to tackle obesity, using multi-criteria mapping. This 'heuristic' approach utilizes the advantages of a structured interviews framework by predefining a set of options for appraisal, while leaving interviewees free to select their own criteria for making their judgements. Additional information can be gleaned from the interview transcripts and related materials to set the appraisals in their policy context, and allowing interviewees to express their views on the options presented and their own appraisals. The PorGrow study team agreed a predefined set of 20 options for appraisal, and interviewed sets of stakeholders representing more than 20 aspects of policy development in each of the nine participating countries. The details of the methodology adopted are set out in this paper.

  8. Improved purification of native meningococcal porin PorB and studies on its structure/function.

    PubMed

    Massari, Paola; King, Carol A; MacLeod, Heather; Wetzler, Lee M

    2005-12-01

    The outer membrane protein PorB of Neisseria meningitidis is a pore-forming protein which has various effects on eukaryotic cells. It has been shown to (1) up-regulate the surface expression of the co-stimulatory molecule CD86 and of MHC class II (which are TLR2/MyD88 dependent and related to the porin's immune-potentiating ability), (2) be involved in prevention of apoptosis by modulating the mitochondrial membrane potential, and (3) form pores in eukaryotic cells. As an outer membrane protein, its native trimeric form isolation is complicated by its insoluble nature, requiring the presence of detergent throughout the whole procedure, and by its tight association with other outer membrane components, such as neisserial LOS or lipoproteins. In this study, an improved chromatographic purification method to obtain an homogeneous product free of endotoxin and lipoprotein is described, without loss of any of the above-mentioned properties of the porin. Furthermore, we have investigated the requirement of the native trimeric structure for the porin's activity. Inactivation of functional PorB trimers into non-functional monomers was achieved by incubation on ice. Thus, routine long- and medium-term storage at low temperature may be a cause of porin inactivation.

  9. Diagnóstico diferencial en la encefalitis por anticuerpos contra el receptor NMDA

    PubMed Central

    González-Valcárcel, J.; Rosenfeld, M.R.; Dalmau, J.

    2011-01-01

    Resumen Introducción La encefalitis por anticuerpos contra el receptor de NMDA (NMDAR) suele desarrollarse como un síndrome característico de evolución multifásica y diagnóstico diferencial amplio. Pacientes Presentamos a 2 pacientes diagnosticadas de encefalitis por anticuerpos NMDAR con un cuadro clínico típico, pero que inicialmente señaló otras etiologías. Discusión La afectación frecuente de pacientes jóvenes con manifestaciones psiquiátricas prominentes indica frecuentemente otras consideraciones diagnósticas; las más frecuentes son las encefalitis virales, los procesos psiquiátricos y el síndrome neuroléptico maligno. Varios síndromes previamente definidos de manera parcial o descriptiva en adultos y pacientes pediátricos probablemente eran casos de encefalitis anti-NMDAR. Conclusiones La encefalitis anti-NMDAR debe considerarse en pacientes jóvenes con manifestaciones psiquiátricas subagudas, movimientos anormales y alteraciones autonómicas. La caracterización clínica e inmunológica de esta enfermedad ha llevado a la identificación de nuevos anticuerpos que afectan a procesos de memoria, aprendizaje, conducta y psicosis. PMID:20964986

  10. Effect of SPM-based cleaning POR on EUV mask performance

    NASA Astrophysics Data System (ADS)

    Choi, Jaehyuck; Lee, Han-shin; Yoon, Jinsang; Shimomura, Takeya; Friz, Alex; Montgomery, Cecilia; Ma, Andy; Goodwin, Frank; Kang, Daehyuk; Chung, Paul; Shin, Inkyun; Cho, H.

    2011-11-01

    EUV masks include many different layers of various materials rarely used in optical masks, and each layer of material has a particular role in enhancing the performance of EUV lithography. Therefore, it is crucial to understand how the mask quality and patterning performance can change during mask fabrication, EUV exposure, maintenance cleaning, shipping, or storage. The fact that a pellicle is not used to protect the mask surface in EUV lithography suggests that EUV masks may have to undergo more cleaning cycles during their lifetime. More frequent cleaning, combined with the adoption of new materials for EUV masks, necessitates that mask manufacturers closely examine the performance change of EUV masks during cleaning process. We have investigated EUV mask quality and patterning performance during 30 cycles of Samsung's EUV mask SPM-based cleaning and 20 cycles of SEMATECH ADT exposure. We have observed that the quality and patterning performance of EUV masks does not significantly change during these processes except mask pattern CD change. To resolve this issue, we have developed an acid-free cleaning POR and substantially improved EUV mask film loss compared to the SPM-based cleaning POR.

  11. Multiple active site residues are important for photochemical efficiency in the light-activated enzyme protochlorophyllide oxidoreductase (POR).

    PubMed

    Menon, Binuraj R K; Hardman, Samantha J O; Scrutton, Nigel S; Heyes, Derren J

    2016-08-01

    Protochlorophyllide oxidoreductase (POR) catalyzes the light-driven reduction of protochlorophyllide (Pchlide), an essential, regulatory step in chlorophyll biosynthesis. The unique requirement of the enzyme for light has provided the opportunity to investigate how light energy can be harnessed to power biological catalysis and enzyme dynamics. Excited state interactions between the Pchlide molecule and the protein are known to drive the subsequent reaction chemistry. However, the structural features of POR and active site residues that are important for photochemistry and catalysis are currently unknown, because there is no crystal structure for POR. Here, we have used static and time-resolved spectroscopic measurements of a number of active site variants to study the role of a number of residues, which are located in the proposed NADPH/Pchlide binding site based on previous homology models, in the reaction mechanism of POR. Our findings, which are interpreted in the context of a new improved structural model, have identified several residues that are predicted to interact with the coenzyme or substrate. Several of the POR variants have a profound effect on the photochemistry, suggesting that multiple residues are important in stabilizing the excited state required for catalysis. Our work offers insight into how the POR active site geometry is finely tuned by multiple active site residues to support enzyme-mediated photochemistry and reduction of Pchlide, both of which are crucial to the existence of life on Earth.

  12. Intermitência alfvênica gerada por caos na atmosfera solar e no vento solar

    NASA Astrophysics Data System (ADS)

    Rempel, E. L.; Chian, A. C.-L.; Macau, E. E. N.; Rosa, R. R.

    2003-08-01

    Dados medidos no vento solar rápido proveniente dos buracos coronais revelam que os plasmas no meio interplanetário são dominados por flutuações Alfvênicas, caracterizadas por uma alta correlação entre as variações do campo magnético e da velocidade do plasma. As flutuações exibem muitas características esperadas em turbulência magneto-hidrodinâmica totalmente desenvolvida, tais como intermitência e espectros contínuos. Contudo, os mecanismos responsáveis pela evolução de turbulência Alfvênica intermitente não são completamente compreendidos. Neste trabalho a teoria de caos é usada para explicar como sistemas Alfvênicos, modelados pela equação Schrödinger não-linear derivativa e pela equação Kuramoto-Sivashinsky, podem se tornar fortemente caóticos à medida em que parâmetros do plasma são variados. Pequenas perturbações no parâmetro de dissipação podem fazer com que o sistema mude bruscamente de um regime periódico, ou fracamente caótico, para um regime fortemente caótico. As séries temporais das flutuações do campo magnético nos regimes fortemente caóticos exibem comportamento intermitente, em que fases laminares ou fracamente caóticas são interrompidas por fortes estouros caóticos. É mostrado que o regime fortemente caótico é atingido quando as soluções periódicas ou fracamente caóticas globalmente estáveis interagem com soluções do sistema que são fortemente caóticas, mas globalmente instáveis. Estas soluções globalmente instáveis são conjuntos caóticos não-atrativos conhecidos como selas caóticas, e são responsáveis pelos fortes estouros nos regimes intermitentes. Selas caóticas têm sido detectadas experimentalmente em uma grande variedade de sistemas, sendo provável que elas desempenhem um papel importante na turbulência intermitente observada em plasmas espaciais.

  13. Reconstrução tridimensional de arcos magnéticos por tomografia

    NASA Astrophysics Data System (ADS)

    Simões, P. J. A.; Costa, J. E. R.

    2003-08-01

    Uma explosão solar é uma variação súbita do brilho que ocorre nas regiões ativas da atmosfera solar. Estas regiões são constituídas por um plasma magnetizado com intensa indução magnética e em cenários bem complexos como visto recentemente através de experimentos embarcados em satélites operando instrumentos em raios X moles e ultra-violeta distante. A energia magnética, que pode ser armazenada por um período de horas até dias em configurações magnéticas estressadas, é subitamente lançada na atmosfera solar e transferida para partículas como elétrons, prótons e núcleos pesados, que são acelerados e/ou aquecidos, produzindo radiação eletromagnética. A proposta final deste projeto é determinar as características espaciais de alta resolução da emissão e polarização girossincrotrônica de explosões solares em ambientes complexos de campos magnéticos. Os recentes resultados da emissão difusa em EUV apresentado pelos satélites TRACE e SOHO dos arcos magnéticos conectando as diferentes polaridades magnéticas sobre as regiões ativas possibilitam novas abordagens sobre o papel do campo magnético na emissão em rádio. Nesta etapa apresentamos os resultados da reconstrução da geometria tridimensional das linhas de força destes arcos utilizando técnicas tomográficas, a partir de imagens de alta resolução espacial obtidas pelo instrumento EIT (Extreme ultraviolet Imaging Telescope), além da modelagem das induções magnéticas por um campo dipolar e as densidades de partículas aceleradas. Utilizamos para a reconstrução geométrica, imagens tomadas em vários ângulos dos arcos devido à rotacão solar. Com estes resultados, daremos continuidade ao projeto, com os cálculos da transferência radiativa nos modos ordinário e extraordinário de propagação da radiação girossincrotrônica de explosões solares.

  14. Geometry sensing through POR1 regulates Rac1 activity controlling early osteoblast differentiation in response to nanofiber diameter.

    PubMed

    Higgins, A M; Banik, B L; Brown, J L

    2015-02-01

    Bone grafting procedures in the United States rely heavily upon autografts and allografts, which are donor-dependent, cause donor site pain, and can transmit disease. Synthetic bone grafts can reduce these risks; however, synthetics lack the bone differentiating (osteoinductive) abilities of auto- and allografts. Achieving innate osteoinductive properties of synthetics through surface modifications is currently under investigation. This study focuses on nanofibers, with emphasis on how fiber diameter and the potential curvature sensor POR1 affect the activation of the signaling molecules Rac1 and Arf1, and leading to expression of alkaline phosphatase (ALP), an osteoinductive marker. Diameters of 0.1, 0.3, and 1.0 μm were compared against a flat control. The highest level of Rac1 activation was achieved on the smallest fibers (0.1 μm), a trend that was lost in POR1 knockdowns. This supports the hypothesis that on small nanofibers, POR1 favorably binds to highly curved cell membranes, which allows Rac1 to subsequently dissociate and activate. When the curvature is insufficient to bind POR1, POR1 binds to inactive Rac1 and competitively inhibits its activation. Arf1 activation followed an opposite trend, with the largest nanofibers exhibiting the highest activity. This trend reinforces the known interaction between Rac1 and Arf1 through the GIT-PIX complex, an Arf1 GAP and Rac1 GEF, respectively. Large, (1.0 μm), nanofibers demonstrated the highest ALP activity, indicating that ALP expression is inversely dependent on Rac1 activation. Knockdown of POR1 resulted in increased ALP activity across the substrates but without regard to the curvature sensing trend seen previously. Thus, POR1 senses curvature and increases Rac1 activity, which negatively regulates bone differentiation.

  15. Using the PORS Problems to Examine Evolutionary Optimization of Multiscale Systems

    SciTech Connect

    Reinhart, Zachary; Molian, Vaelan; Bryden, Kenneth

    2013-01-01

    Nearly all systems of practical interest are composed of parts assembled across multiple scales. For example, an agrodynamic system is composed of flora and fauna on one scale; soil types, slope, and water runoff on another scale; and management practice and yield on another scale. Or consider an advanced coal-fired power plant: combustion and pollutant formation occurs on one scale, the plant components on another scale, and the overall performance of the power system is measured on another. In spite of this, there are few practical tools for the optimization of multiscale systems. This paper examines multiscale optimization of systems composed of discrete elements using the plus-one-recall-store (PORS) problem as a test case or study problem for multiscale systems. From this study, it is found that by recognizing the constraints and patterns present in discrete multiscale systems, the solution time can be significantly reduced and much more complex problems can be optimized.

  16. Compressed air blast injury with palpebral, orbital, facial, cervical, and mediastinal emphysema through an eyelid laceration: a case report and review of literature

    PubMed Central

    2013-01-01

    Background To the best of our knowledge, only 14 cases of orbital or periorbital compressed air injuries from air guns or hoses have been reported in the literature. Case presentation A 30-year-old man was accidentally injured when a compressed air hose nozzle hit his right eye. The right half of his face was markedly swollen and a skin laceration near the right medial canthus was identified. A computed tomography scan showed subcutaneous and intraorbital emphysema around the right eye as well as cervical and mediastinal emphysema. He was prophylactically treated with systemic and topical antibiotics to prevent infection. All emphysemas had completely resolved 2 weeks after the injury. Conclusions A review of all 15 cases (including ours) showed that all patients were male and that 6 of the 15 (40.0%) cases were related to industrial accidents. Although emphysema was restricted to the subconjunctival space in 2 (13.3%) cases, it spread to the orbit in the remaining 13 (86.7%) cases. Cervical and mediastinal emphysemas were found in 3 (20.0%) cases, and intracranial emphysema was confirmed in 6 (40.0%) cases. Prophylactic antibiotics were used in most cases and the prognosis was generally good in all but one patient, who developed optic atrophy and blindness. PMID:24195485

  17. jPOR: An ImageJ macro to quantify total optical porosity from blue-stained thin sections

    NASA Astrophysics Data System (ADS)

    Grove, Clayton; Jerram, Dougal A.

    2011-11-01

    A fast and effective method has been developed to measure total optical porosity (TOP) of blue resin-impregnated thin sections. This utilises a macro file (jPOR.txt) for ImageJ, which can be used on digital photomicrographs of thin sections. The method requires no specialised scientific equipment and can be run entirely using free to download software. Digital images are acquired from blue resin-impregnated thin sections using a conventional film scanner in the present study, though the technique can be applied to any high resolution colour digital acquired by different means (e.g., flat bed scanning, digital capture). Images are preprocessed using a newly developed custom 8-bit palette and analysed for porosity in ImageJ using the simple to use jPOR macro. Our method rapidly calculates TOP for batches of images with or without the option of user adjustment. Results are compared with conventional methods (e.g., to point counting), and tested with several users to estimate any user variability. jPOR provided comparable results to more time-consuming point counting, but with significantly less "counting error" and less interoperator variability than published point counting studies. The jPOR macro has been integrated into a macro tool set that can be configured to be run on ImageJ start up.

  18. [Professor Frantisek Por MD and Professor Robert Klopstock MD, students at Budapest and Prague Faculties of Medicine].

    PubMed

    Mydlík, M; Derzsiová, K

    2010-11-01

    Professor Frantisek Por MD and Professor Robert Klopstock MD were contemporaries, both born in 1899, one in Zvolen, the other in Dombovar, at the time of Austro-Hungarian Monarchy. Prof. Por attended the Faculty of Medicine in Budapest from 1918 to 1920, and Prof. Klopstock studied at the same place between 1917 and 1919. From 1920 until graduation on 6th February 1926, Prof. Por continued his studies at the German Faculty of Medicine, Charles University in Prague. Prof. Klopstock had to interrupt his studies in Budapest due to pulmonary tuberculosis; he received treatment at Tatranske Matliare where he befriended Franz Kafka. Later, upon Kafka's encouragement, he changed institutions and continued his studies at the German Faculty of Medicine, Charles University in Prague, where he graduated the first great go. It is very likely that, during their studies in Budapest and Prague, both professors met repeatedly, even though their life paths later separated. Following his graduation, Prof. Por practiced as an internist in Prague, later in Slovakia, and from 1945 in Kosice. In 1961, he was awarded the title of university professor of internal medicine at the Faculty of Medicine, Pavol Jozef Safarik University in Kosice, where he practiced until his death in 1980. Prof. Klopstock continued his studies in Kiel and Berlin. After his graduation in 1933, he practiced in Berlin as a surgeon and in 1938 left for USA. In 1962, he was awarded the title of university professor of pulmonary surgery in NewYork, where he died in 1972.

  19. Unidas por la Vida (United for Life): implementing a culturally-tailored, community-based, family-oriented lifestyle intervention.

    PubMed

    Sorkin, Dara H; Biegler, Kelly A; Peyreda, Margarita; Kilgore, David; Dow, Emily; Ngo-Metzger, Quyen

    2013-01-01

    Unidas por la Vida, a behavioral weight-loss program, was developed for use among low-income, Mexican-American women with diabetes and their overweight/obese adult daughters. The program leverages community resources in a partnership between primary care and community-based organizations. This paper describes the program's implementation, lessons learned, and implications for sustainability.

  20. Global Microlending in Education Reform: Enseñá Por Argentina and the Neoliberalization of the Grassroots

    ERIC Educational Resources Information Center

    Friedrich, Daniel S.

    2010-01-01

    This article examines the workings and underlying assumptions behind Enseñá por Argentina (Teach for Argentina), one specific program that takes part in the larger and expanding network of Teach for All, by thinking about the ways in which a global push for redefining teaching and teacher education encounters local characteristics and histories,…

  1. Inversor Resonante de Tres Elementos L-LC con Caracteristica Cortocircuitable para Aplicaciones de Calentamiento por Induccion

    NASA Astrophysics Data System (ADS)

    Espi Huerta, Jose Miguel

    Los generadores de calentamiento por induccion son puentes inversores con carga resonante, cuya mision es basicamente crear una corriente sinusoidal de gran amplitud sobre la "bobina de caldeo", que forma parte del tanque resonante. En el interior de esta bobina se introduce la pieza que se desea calentar. EI campo magnetico creado induce corrientes superficiales (corrientes de Foucault) sobre la pieza, que producen su calentamiento. Los tanques resonantes (tambien llamados osciladores) utilizados en la actualidad son el resonante serie y el resonante paralelo. Aunque ya desde hace algun tiempo se vienen construyendo generadores de alta potencia basados en estos dos osciladores, el exito nunca ha. sido completo en ninguno de los dos casos. Tal y como se explica en la introduccion de esta memoria, los puentes inversores utilizados deben operar sobre una carga inductiva (corriente retrasada) para evitar el fenomeno de la recuperacion inversa de sus diodos y la consiguiente ruptura de los transistores. De la restriccion topologica anterior se deduce que el generador paralelo debe conmutar a frecuencias inferiores a la resonancia, y el serie a frecuencias superiores. A esta restriccion topologica hay que unir otra que es exclusiva del calentamiento por induccion: La corriente por la bobina de caldeo debe ser sinusoidal. De no ser asi, resultaria imposible disponer toda la potencia de calentamiento sobre la pieza en el espesor requerido por la aplicacion. Como consecuencia, los inversores no pueden operar por debajo de la frecuencia de resonancia del oscilador, pues en ese caso se amplifican los armonicos de orden superior de la tension/corriente de entrada situados sobre la resonancia, con la consiguiente distorsion de la corriente de salida. La conjuncion de las dos restricciones anteriores obligan al inversor paralelo a funcionar a la frecuencia de resonancia del oscilador. Esto imposibilita un control por variacion de frecuencia, regulandose la potencia desde la

  2. The amino acid sequence of Neisseria lactamica PorB surface-exposed loops influences Toll-like receptor 2-dependent cell activation.

    PubMed

    Toussi, Deana N; Carraway, Margaretha; Wetzler, Lee M; Lewis, Lisa A; Liu, Xiuping; Massari, Paola

    2012-10-01

    Toll-like receptors (TLRs) play a major role in host mucosal and systemic defense mechanisms by recognizing a diverse array of conserved pathogen-associated molecular patterns (PAMPs). TLR2, with TLR1 and TLR6, recognizes structurally diverse bacterial products such as lipidated factors (lipoproteins and peptidoglycans) and nonlipidated proteins, i.e., bacterial porins. PorB is a pan-neisserial porin expressed regardless of organisms' pathogenicity. However, commensal Neisseria lactamica organisms and purified N. lactamica PorB (published elsewhere as Nlac PorB) induce TLR2-dependent proinflammatory responses of lower magnitude than N. meningitidis organisms and N. meningitidis PorB (published elsewhere as Nme PorB). Both PorB types bind to TLR2 in vitro but with different apparent specificities. The structural and molecular details of PorB-TLR2 interaction are only beginning to be unraveled and may be due to electrostatic attraction. PorB molecules have significant strain-specific sequence variability within surface-exposed regions (loops) putatively involved in TLR2 interaction. By constructing chimeric recombinant PorB loop mutants in which surface-exposed loop residues have been switched between N. lactamica PorB and N. meningitidis PorB, we identified residues in loop 5 and loop 7 that influence TLR2-dependent cell activation using HEK cells and BEAS-2B cells. These loops are not uniquely responsible for PorB interaction with TLR2, but NF-κB and MAP kinases signaling downstream of TLR2 recognition are likely influenced by a hypothetical "TLR2-binding signature" within the sequence of PorB surface-exposed loops. Consistent with the effect of purified PorB in vitro, a chimeric N. meningitidis strain expressing N. lactamica PorB induces lower levels of interleukin 8 (IL-8) secretion than wild-type N. meningitidis, suggesting a role for PorB in induction of host cell activation by whole bacteria.

  3. Encefalitis por anticuerpos contra el receptor de NMDA: experiencia con seis pacientes pediátricos. Potencial eficacia del metotrexato

    PubMed Central

    Bravo-Oro, Antonio; Abud-Mendoza, Carlos; Quezada-Corona, Arturo; Dalmau, Josep; Campos-Guevara, Verónica

    2016-01-01

    Introducción La encefalitis por anticuerpos contra el receptor de N-metil-D-aspartato (NMDA) es una entidad cada vez más diagnosticada en edad pediátrica. A diferencia de los adultos, en muchos casos no se asocia a tumores y las manifestaciones iniciales en niños más frecuentes son crisis convulsivas y trastornos del movimiento, mientras que en los adultos predominan las alteraciones psiquiátricas. Casos clínicos Presentamos seis casos pediátricos confirmados con anticuerpos contra la subunidad NR1 del receptor de NMDA en suero y líquido cefalorraquídeo. Cinco de los casos comenzaron con crisis convulsivas como manifestación clínica inicial antes de desarrollar el cuadro clásico de esta entidad. En todos los casos se utilizaron esteroides como primera línea de tratamiento, con los que sólo se observó control de las manifestaciones en uno, por lo que el resto de los pacientes requirió inmunomoduladores de segunda línea. Todos los pacientes recibieron metotrexato como tratamiento inmunomodulador para evitar recaídas y la evolución fue a la mejoría en todos ellos. Conclusiones En nuestra serie de pacientes con encefalitis por anticuerpos contra el receptor de NMDA, ninguno se asoció a tumores. Todos los casos recibieron metotrexato por lo menos durante un año, no observamos eventos adversos clínicos ni por laboratorio, ni hubo secuelas neurológicas ni recaídas durante el tratamiento. Aunque es una serie pequeña y es deseable incrementar el número y tiempo de evolución, consideramos el metotrexato una excelente alternativa como tratamiento inmunomodulador para esta patología. PMID:24150952

  4. Prevalencia y tamizaje del Trastorno por Déficit de Atención con Hiperactividad en Costa Rica

    PubMed Central

    Weiss, Nicholas T.; Schuler, Jovita; Monge, Silvia; McGough, James J.; Chavira, Denise; Bagnarello, Monica; Herrera, Luis Diego; Mathews, Carol A.

    2015-01-01

    Resumen La investigación tuvo como propósito estimar la prevalencia del Trastorno por Déficit de Atención con Hiperactividad (TDAH) en Costa Rica y determinar si la versión en español del cuestionario Swanson Nolan and Pelham Scale IV (SNAP-IV) es un instrumento de tamizaje útil en una población de niños y niñas escolares costarricenses. El instrumento fue entregado a padres y maestros de 425 niños entre 5 y 13 años de edad (promedio = 8.8). Todos fueron evaluados con el instrumento Swanson, Kotkin, Agler, M-Flynn and Pelham Scale (SKAMP). Su diagnóstico fue confirmado con una entrevista clínica. La sensibilidad y la especificidad del SNAP-IV fueron evaluadas como predictores de criterios de diagnóstico según el DSM-IV. La prevalencia puntual en la muestra del TDAH fue del 5%. El tamizaje más preciso lo hizo el SNAP-IV completado por el maestro en un corte de 20%, con una sensibilidad de 96% y una especificidad de un 82%. La sensibilidad de los instrumentos completados por los padres fue más baja que aquella de los maestros. El SNAP-IV completado por las maestras con un corte aislando el 20% de los mayores puntajes categorizó correctamente a un 87% de los sujetos. PMID:22432094

  5. Racism in digital era: Development and initial validation of the Perceived Online Racism Scale (PORS v1.0).

    PubMed

    Keum, Brian TaeHyuk; Miller, Matthew J

    2017-04-01

    The purpose of this study was to develop the Perceived Online Racism Scale (PORS) to assess perceived online racist interpersonal interactions and exposure to online racist content among people of color. Items were developed through a multistage process involving a comprehensive literature review, focus-groups, qualitative data collection, and survey of online racism experiences. Based on a sample of 1,023 racial minority participants, exploratory and confirmatory factor analyses provided support for a 30-item bifactor model accounted by the general factor and the following 3 specific factors: (a) personal experience of racial cyber-aggression, (b) vicarious exposure to racial cyber-aggression, and (c) online-mediated exposure to racist reality. The PORS demonstrated measurement invariance across racial/ethnic groups in our sample. Internal reliability estimates for the total and subscale scores of the PORS were above .88 and the 4-week test-retest reliability was adequate. Limitations and future directions for research are discussed. (PsycINFO Database Record

  6. Chlorophyll Synthesis in a Deetiolated (det340) Mutant of Arabidopsis without NADPH-Protochlorophyllide (PChlide) Oxidoreductase (POR) A and Photoactive PChlide-F655.

    PubMed Central

    Lebedev, N.; Van Cleve, B.; Armstrong, G.; Apel, K.

    1995-01-01

    Chlorophyll (Chl) synthesis in Arabidopsis is controlled by two light-dependent NADPH-protochlorophyllide (PChlide) oxidoreductases (PORs), one (POR A) that is active transiently in etiolated seedlings at the beginning of illumination and another (POR B) that also operates in green plants. The function of these two enzymes during the light-induced greening of dark-grown seedlings has been studied in the wild type and a deetiolated (det340) mutant of Arabidopsis. One of the consequences of the det mutation is that POR A is constitutively down-regulated, and therefore, synthesis of the POR A enzyme is shut off. When grown in the dark, the det340 mutant lacks POR A and the photoactive PChlide-F655 species but maintains the second PChlide reductase, POR B. Previously, photoactive PChlide-F655 has often been considered to be the only PChlide form that leads to Chl formation. Despite its deficiency in POR A and photoactive PChlide-F655, the det340 mutant is able to green when placed in the light. Chl accumulation, however, proceeds abnormally. At the beginning of illumination, seedlings of det340 mutants are extremely susceptible to photooxidative damage and accumulate Chl only at extremely low light intensities. They form core complexes of photosystems I and II but are almost completely devoid of light-harvesting structures. The results of this study demonstrate that in addition to the route of Chl synthesis that has been studied extensively in illuminated dark-grown wild-type plants, a second branch of Chl synthesis exists that is driven by POR B and does not require POR A. PMID:12242369

  7. The PorB porin from commensal Neisseria lactamica induces Th1 and Th2 immune responses to ovalbumin in mice and is a potential immune adjuvant.

    PubMed

    Liu, Xiuping; Wetzler, Lee M; Massari, Paola

    2008-02-06

    Porins from pathogenic Neisseriae are among several bacterial products with immune adjuvant activity. Neisseria meningitidis (Nme) PorB, has been shown to induce immune cells activation in a TLR2-dependent manner and acts as a vaccine immune adjuvant. The PorB porin from Neisseria lactamica (Nlac), a common nasopharyngeal commensal, shares significant structural and functional similarities with Nme PorB. In this work we ask whether the immune adjuvant ability of porins from pathogenic Neisserial strains is a characteristic shared with porins from non-pathogenic Neisserial species or whether it is unique for bacterial products derived from microorganisms capable of inducing inflammation and disease. We evaluated the potential immune adjuvant effect of Nlac PorB in mice using ovalbumin (OVA) as a prototype antigen. Immunization with Nlac PorB/OVA induced high OVA-specific IgG and IgM titers compared to OVA alone, similar to other adjuvants such as Nme PorB and alum. High titers of IgG1 and IgG2b were detected as well as production of IL-4, IL-10, IL-12 and INF-gamma in response to Nlac PorB, consistent with induction of both a Th1-type and a Th2-type immune response. OVA-specific proliferation was also determined in splenocytes from Nlac PorB/OVA-immunized mice. In addition, B cell activation in vitro and cytokine production in response to Nlac PorB was found to be mediated by TLR2, in a similar manner to Nme PorB.

  8. CYP2C9*2 allele increases risk for hypoglycemia in POR*1/*1 type 2 diabetic patients treated with sulfonylureas.

    PubMed

    Ragia, G; Tavridou, A; Elens, L; Van Schaik, R H N; Manolopoulos, V G

    2014-01-01

    It is previously shown that carriers of the defective allele CYP2C9*3 that leads to impaired sulfonylurea metabolism are at increased sulfonylurea-induced hypoglycemia risk due to diminished drug metabolism, whereas no effect of CYP2C9*2 allele was found. Recently, a polymorphism in P450 oxidoreductase (POR) gene, assigned as POR*28 allele, was associated with increased CYP2C9 activity. The aim of this study was to assess i) the effect of POR*28 allele on sulfonylurea-induced hypoglycemia risk and ii) the association of CYP2C9*2 allele with hypoglycemia risk in non-carriers of POR*28 allele. The study group consisted of 176 patients with diagnosed type 2 diabetes mellitus (T2DM) treated with sulfonylureas, of whom 92 patients had experienced at least one drug-associated hypoglycemic event (cases), while 84 had never experienced a hypoglycemic event (controls). POR*28 allele was detected by use of real-time TaqMan PCR. POR*28 allele was not associated with sulfonyl-urea-induced hypoglycemia. In POR*1/*1 patients, CYP2C9*1/*2 genotype was more common in cases than in controls (32.7 vs. 14.3%, p=0.041). In a model adjusted for age, BMI, duration of T2DM and renal function, and POR*1/*1 entered as a selection variable, CYP2C9*2 allele increased the hypoglycemia risk in response to sulfonylurea (odds ratio: 3.218, p=0.031). In conclusion, our results suggest that POR*28 allele is masking the association of CYP2C9*2 allele with sulfonyl-urea-induced hypoglycemia. Therefore, POR*28 allele is an important source of CYP2C9 activity variability and combined with CYP2C9 gene poly-morphisms may explain individual variability in the effect of sulfonylureas.

  9. Flavobacterium johnsoniae PorV is required for secretion of a subset of proteins targeted to the type IX secretion system.

    PubMed

    Kharade, Sampada S; McBride, Mark J

    2015-01-01

    Flavobacterium johnsoniae exhibits gliding motility and digests many polysaccharides, including chitin. A novel protein secretion system, the type IX secretion system (T9SS), is required for gliding and chitin utilization. The T9SS secretes the cell surface motility adhesins SprB and RemA and the chitinase ChiA. Proteins involved in secretion by the T9SS include GldK, GldL, GldM, GldN, SprA, SprE, and SprT. Porphyromonas gingivalis has orthologs for each of these that are required for secretion of gingipain protease virulence factors by its T9SS. P. gingivalis porU and porV have also been linked to T9SS-mediated secretion, and F. johnsoniae has orthologs of these. Mutations in F. johnsoniae porU and porV were constructed to determine if they function in secretion. Cells of a porV deletion mutant were deficient in chitin utilization and failed to secrete ChiA. They were also deficient in secretion of the motility adhesin RemA but retained the ability to secrete SprB. SprB is involved in gliding motility and is needed for formation of spreading colonies on agar, and the porV mutant exhibited gliding motility and formed spreading colonies. However, the porV mutant was partially deficient in attachment to glass, apparently because of the absence of RemA and other adhesins on the cell surface. The porV mutant also appeared to be deficient in secretion of numerous other proteins that have carboxy-terminal domains associated with targeting to the T9SS. PorU was not required for secretion of ChiA, RemA, or SprB, indicating that it does not play an essential role in the F. johnsoniae T9SS.

  10. [Validation of the ice pack test in ophthalmoparesis due to myasthenia gravis].

    PubMed

    Ramirez-Antunez, Ángel G; García-Ramos, Guillermo; Estañol-Vidal, Bruno; Juárez-Flores, Alejandra

    2013-11-01

    Introduccion. La miastenia grave es una enfermedad autoinmune de la union neuromuscular que se presenta clinicamente como debilidad fluctuante de los musculos estriados, como los de la region ocular (miastenia ocular). Objetivo. Demostrar que la sensibilidad y la especificidad de la prueba de hielo son altas en el diagnostico diferencial de la oftalmoparesia y ptosis palpebral por miastenia grave y miastenia ocular. Sujetos y metodos. Estudio observacional, analitico, no aleatorizado, de una muestra de 43 sujetos, 21 con miastenia grave y 22 controles. A todos los pacientes se les aplico un guante con hielo sobre sus parpados superiores afectados durante dos minutos, despues de los cuales se evaluo el grado de mejoria de la ptosis palpebral y la oftalmoparesia. Todos tenian estudio de estimulacion nerviosa repetitiva. Resultados. Se analizaron 36 pacientes, 18 con miastenia grave u ocular y 18 controles. Todos presentaron ptosis palpebral y solo 20 de ellos oftalmoparesia. La prueba de hielo para la oftalmoparesia mostro una sensibilidad del 83%, especificidad del 100%, valor predictivo positivo (VPP) del 100% y valor predictivo negativo (VPN) del 80% en el diagnostico de la miastenia grave. Para la ptosis palpebral, se determino una sensibilidad del 89%, especificidad del 100%, VPP del 100% y VPN del 90%. Para la estimulacion nerviosa repetitiva se calculo una sensibilidad del 61%, especificidad del 83%, VPP del 79% y VPN del 68%. Conclusion. La prueba de hielo es sencilla, segura, economica, rapida y fiable para utilizarse de rutina en pacientes con sospecha de ptosis u oftalmoparesia por miastenia grave, ya que tiene una alta validez, seguridad y reproducibilidad como prueba diagnostica.

  11. Structural and functional probing of PorZ, an essential bacterial surface component of the type-IX secretion system of human oral-microbiomic Porphyromonas gingivalis.

    PubMed Central

    Lasica, Anna M.; Goulas, Theodoros; Mizgalska, Danuta; Zhou, Xiaoyan; de Diego, Iñaki; Ksiazek, Mirosław; Madej, Mariusz; Guo, Yonghua; Guevara, Tibisay; Nowak, Magdalena; Potempa, Barbara; Goel, Apoorv; Sztukowska, Maryta; Prabhakar, Apurva T.; Bzowska, Monika; Widziolek, Magdalena; Thøgersen, Ida B.; Enghild, Jan J.; Simonian, Mary; Kulczyk, Arkadiusz W.; Nguyen, Ky-Anh; Potempa, Jan; Gomis-Rüth, F. Xavier

    2016-01-01

    Porphyromonas gingivalis is a member of the human oral microbiome abundant in dysbiosis and implicated in the pathogenesis of periodontal (gum) disease. It employs a newly described type-IX secretion system (T9SS) for secretion of virulence factors. Cargo proteins destined for secretion through T9SS carry a recognition signal in the conserved C-terminal domain (CTD), which is removed by sortase PorU during translocation. Here, we identified a novel component of T9SS, PorZ, which is essential for surface exposure of PorU and posttranslational modification of T9SS cargo proteins. These include maturation of enzyme precursors, CTD removal and attachment of anionic lipopolysaccharide for anchorage in the outer membrane. The crystal structure of PorZ revealed two β-propeller domains and a C-terminal β-sandwich domain, which conforms to the canonical CTD architecture. We further documented that PorZ is itself transported to the cell surface via T9SS as a full-length protein with its CTD intact, independently of the presence or activity of PorU. Taken together, our results shed light on the architecture and possible function of a novel component of the T9SS. Knowledge of how T9SS operates will contribute to our understanding of protein secretion as part of host-microbiome interactions by dysbiotic members of the human oral cavity. PMID:27883039

  12. Influence of Various Polymorphic Variants of Cytochrome P450 Oxidoreductase (POR) on Drug Metabolic Activity of CYP3A4 and CYP2B6

    PubMed Central

    Naranmandura, Hua; Zeng, Su; Chen, Shu Qing

    2012-01-01

    Cytochrome P450 oxidoreductase (POR) is known as the sole electron donor in the metabolism of drugs by cytochrome P450 (CYP) enzymes in human. However, little is known about the effect of polymorphic variants of POR on drug metabolic activities of CYP3A4 and CYP2B6. In order to better understand the mechanism of the activity of CYPs affected by polymorphic variants of POR, six full-length mutants of POR (e.g., Y181D, A287P, K49N, A115V, S244C and G413S) were designed and then co-expressed with CYP3A4 and CYP2B6 in the baculovirus-Sf9 insect cells to determine their kinetic parameters. Surprisingly, both mutants, Y181D and A287P in POR completely inhibited the CYP3A4 activity with testosterone, while the catalytic activity of CYP2B6 with bupropion was reduced to approximately ∼70% of wild-type activity by Y181D and A287P mutations. In addition, the mutant K49N of POR increased the CLint (Vmax/Km) of CYP3A4 up to more than 31% of wild-type, while it reduced the catalytic efficiency of CYP2B6 to 74% of wild-type. Moreover, CLint values of CYP3A4-POR (A115V, G413S) were increased up to 36% and 65% of wild-type respectively. However, there were no appreciable effects observed by the remaining two mutants of POR (i.e., A115V and G413S) on activities of CYP2B6. In conclusion, the extent to which the catalytic activities of CYP were altered did not only depend on the specific POR mutations but also on the isoforms of different CYP redox partners. Thereby, we proposed that the POR-mutant patients should be carefully monitored for the activity of CYP3A4 and CYP2B6 on the prescribed medication. PMID:22719896

  13. Análise dos Conceitos Astronômicos Apresentados por Professores de Algumas Escolas Estaduais Brasileiras

    NASA Astrophysics Data System (ADS)

    Voelzke, Marcos Rincon; Gonzaga, Edson Pereira

    2011-12-01

    A razão para o desenvolvimento deste trabalho baseia-se no fato de que muitos professores da Educação Básica (EB) não lidam com conceitos relacionados à astronomia, e quando o fazem eles simplesmente seguem livros didáticos que podem conter erros conceituais. Como é de conhecimento geral a astronomia é um dos conteúdos a serem ensinados na EB fazendo parte dos Parâmetros Curriculares Nacionais e das Propostas Curriculares do Estado de São Paulo, mas é um fato, que vários pesquisadores apontam, a existência de muitos problemas no ensino da astronomia. Com o propósito de minimizar algumas dessas deficiências foi realizado um trabalho de pesquisa com a utilização de questionários pré e pós pesquisa, para tanto foi desenvolvido um Curso de Extensão Universitária para professores da Diretoria de Ensino Regional (DE) que abrange Mauá, Ribeirão Pires e Rio Grande da Serra (no Estado de São Paulo) com os seguintes objetivos: levantar concepções alternativas; subsidiar os professores por meio de palestras, debates e workshops, e verificar o sucesso da aprendizagem após o curso, adotando-se como referência, para a análise dos resultados, os dicionários de Língua Portuguesa (FERREIRA, 2004) e Enciclopédico de Astronomia e Astronáutica (MOURĀO, 1995). Portanto, dezesseis questões foram aplicadas antes e após o curso, assim pode-se verificar após a pesquisa que 100,0% dos professores sabiam os nomes das fases da Lua, 97,0% entenderam que o Sistema Solar é composto por oito planetas, 78,1% foram capazes de explicar como ocorre um eclipse lunar, um eclipse solar e um solstício, 72,7% sabiam como explicar a ocorrência das estações do ano; 64,5% explicaram corretamente a ocorrência do equinócio, 89,7% foram capazes de definir adequadamente o termo cometa; 63,6% definiram asteróide, 54,5% meteoro, 58,1% galáxia, e 42,4% planeta. Os resultados obtidos indicam uma aprendizagem significativa por parte dos participantes.

  14. "Estudio tribologico de aceros para moldes. Aplicacion al moldeo por inyeccion de polibutilentereftalato reforzado con fibra de vidrio"

    NASA Astrophysics Data System (ADS)

    Martinez Mateo, Isidoro Jose

    Mould materials for injection moulding of polymers and polymer-matrix composites represent a relevant industrial economic sector due to the large quantity of pieces and components processed. The material selection for mould manufacturing, its composition and heat treatment, the hardening procedures and machining and finishing processes determine the service performance and life of the mould. In the first part of the present study, the relationship between the hardness and microstructure and the wear resistance of mould steels from large blocks has been studied by pin-on-disc tests, studying the main wear mechanisms. In order to determine the surface damage on mould steels under real injection conditions, different commercial steels have been studied by measuring the variation of surface roughness with the number of injected pieces with different reinforcement percentages and different mould geometries, by using optical profilometry and scanning electron microscopy techniques. It was important to determine the variation of surface roughness of the moulded pieces with the number of injection operations. The materials used were polybutyleneterephthalate pure and reinforced with either 20% or 50% glass fibre. For the different mould designs, the evolution of the glass fibre orientation with injection flow has been determined by image analysis and related to roughness changes and surface damage, both of the composite parts and of the mould steel surface. Finally, the abrasion resistance of the composite parts has been studied by scratch tests as a function of the number of injected parts and of the scratch direction with respect to injection flow and glass fibre orientation. Los materiales para moldes de inyeccion de polimeros y materiales compuestos representan un sector economicamente muy relevante debido al gran aumento del numero de componentes fabricados a partir de materiales polimericos obtenidos mediante moldeo por inyeccion. La seleccion del material para la

  15. Crystallization and preliminary X-ray analysis of the C-terminal fragment of PorM, a subunit of the Porphyromonas gingivalis type IX secretion system

    PubMed Central

    Stathopulos, Julien; Cambillau, Christian; Cascales, Eric; Roussel, Alain; Leone, Philippe

    2015-01-01

    PorM is a membrane protein involved in the assembly of the type IX secretion system (T9SS) from Porphyromonas gingivalis, a major bacterial pathogen responsible for periodontal disease in humans. The periplasmic domain of PorM was overexpressed in Escherichia coli and purified. A fragment of the purified protein was obtained by limited proteolysis. Crystals of this fragment belonged to the tetragonal space group P43212. Native and MAD data sets were recorded to 2.85 and 3.1 Å resolution, respectively, using synchrotron radiation. PMID:25615973

  16. Community-based education in nutrition and cancer: the Por La Vida Cuidándome curriculum.

    PubMed

    Navarro, A M; Rock, C L; McNicholas, L J; Senn, K L; Moreno, C

    2000-01-01

    The Por La Vida (PLV) intervention model relies on community lay health advisors trained to conduct education sessions among members of their existing social networks. PLV Cuidándome was funded by the NCI to develop, implement, and evaluate the PLV model with respect to nutrition and cancer prevention, as well as early detection of breast and cervical cancers. The target population is the Latino community, for which substantial barriers to health care access exist. This article presents the curriculum that guides the sessions and describes its development, which was based on semi-structured interviews with Latina lay-health community workers to explore relevant attitudes and behaviors. Also key to the process was the work of the educational materials committee, whose members offered community representation as well as expertise in nutritional sciences, educational technologies, and community-based health promotion interventions and research. The 12-session curriculum's goal was to increase both the variety and the quality of fruits and/or vegetables consumed. It included information about consumption of fiber and fat in the importance of balance between energy intake and physical activity. The program has been well received. An ongoing study examines how it enhances nutrition and cancer prevention.

  17. El proceso hacia la integracion de la equidad por genero al curriculo.(The Process of the Integration of Gender Equity in the Curriculum.)

    ERIC Educational Resources Information Center

    Rivera-Bermudez, Carmen D.

    "El Proyecto Colaborativo de Equidad por Genero en la Educacion," or the Collaborative Project for Gender Equity in Education, was undertaken in Puerto Rico between 1990 and 1992 to study how to facilitate the integration of gender equity themes in the curriculum through the direct action of participating teachers. A study examined the…

  18. P(O)R2-directed Pd-catalyzed C-H functionalization of biaryl derivatives to synthesize chiral phosphorous ligands.

    PubMed

    Hu, Rong-Bin; Wang, Hong-Li; Zhang, Hong-Yu; Zhang, Heng; Ma, Yan-Na; Yang, Shang-Dong

    2014-01-01

    Chiral phosphorus ligands have been widely used in transition metal-catalyzed asymmetric reactions. Herein, we report a new synthesis approach of chiral biaryls containing a phosphorus moiety using P(O)R2-directed Pd-catalyzed C-H activation; the functionalized products are produced with good enantioselectivity.

  19. Estimaciones de Prevalencia del VIH por Género y Grupo de Riesgo en Tijuana, México: 2006

    PubMed Central

    Iñiguez-Stevens, Esmeralda; Brouwer, Kimberly C.; Hogg, Robert S.; Patterson, Thomas L.; Lozada, Remedios; Magis-Rodriguez, Carlos; Elder, John P.; Viani, Rolando M.; Strathdee, Steffanie A.

    2010-01-01

    OBJETIVO Estimar la prevalencia del VIH en adultos de 15-49 años de edad en Tijuana, México - en la población general y en subgrupos de riesgo en el 2006. METODOS Se obtuvieron datos demográficos del censo Mexicano del 2005, y la prevalencia del VIH se obtuvo de la literatura. Se construyó un modelo de prevalencia del VIH para la población general y de acuerdo al género. El análisis de sensibilidad consistió en estimar errores estándar del promedio-ponderado de la prevalencia del VIH y tomar derivados parciales con respecto a cada parámetro. RESULTADOS La prevalencia del VIH es 0.54%(N = 4,347) (Rango: 0.22%–0.86%, (N = 1,750–6,944)). Esto sugiere que 0.85%(Rango: 0.39%–1.31%) de los hombres y 0.22%(Rango: 0.04%–0.40%) de las mujeres podrían ser VIH-positivos. Los hombres que tienen sexo con hombres (HSH), las trabajadoras sexuales usuarias de drogas inyectables (MTS-UDI), MTS-noUDI, mujeres UDI, y los hombres UDI contribuyeron las proporciones más elevadas de personas infectadas por el VIH. CONCLUSIONES El número de adultos VIH-positivos entre subgrupos de riesgo en la población de Tijuana es considerable, marcando la necesidad de enforcar las intervenciones de prevención en sus necesidades específicas. El presente modelo estima que hasta 1 en cada 116 adultos podrían ser VIH-positivos. PMID:19685824

  20. Adjuvant effects elicited by novel oligosaccharide variants of detoxified meningococcal lipopolysaccharides on Neisseria meningitidis recombinant PorA protein: a comparison in mice.

    PubMed

    Mehta, Ojas H; Norheim, Gunnstein; Hoe, J Claire; Rollier, Christine S; Nagaputra, Jerry C; Makepeace, Katherine; Saleem, Muhammad; Chan, Hannah; Ferguson, David J P; Jones, Claire; Sadarangani, Manish; Hood, Derek W; Feavers, Ian; Derrick, Jeremy P; Pollard, Andrew J; Moxon, E Richard

    2014-01-01

    Neisseria meningitidis lipopolysaccharide (LPS) has adjuvant properties that can be exploited to assist vaccine immunogenicity. The modified penta-acylated LPS retains the adjuvant properties of hexa-acylated LPS but has a reduced toxicity profile. In this study we investigated whether two modified glycoform structures (LgtE and IcsB) of detoxified penta-acylated LPS exhibited differential adjuvant properties when formulated as native outer membrane vesicles (nOMVs) as compared to the previously described LgtB variant. Detoxified penta-acylated LPS was obtained by disruption of the lpxL1 gene (LpxL1 LPS), and three different glycoforms were obtained by disruption of the lgtB, lgtE or icsB genes respectively. Mice (mus musculus) were immunized with a recombinant PorA P1.7-2,4 (rPorA) protein co-administered with different nOMVs (containing a different PorA serosubtype P1.7,16), each of which expressed one of the three penta-acylated LPS glycoforms. All nOMVs induced IgG responses against the rPorA, but the nOMVs containing the penta-acylated LgtB-LpxL1 LPS glycoform induced significantly greater bactericidal activity compared to the other nOMVs or when the adjuvant was Alhydrogel. Compared to LgtE or IcsB LPS glycoforms, these data support the use of nOMVs containing detoxified, modified LgtB-LpxL1 LPS as a potential adjuvant for future meningococcal protein vaccines.

  1. Astronomy in the Classroom: Why? (Spanish Title: Astronomía en la Clase: ¿Por Qué?) Astronomia na Sala de Aula: Por Quê?

    NASA Astrophysics Data System (ADS)

    Daros Gama, Leandro; Bagdonas Henrique, Alexandre

    2010-07-01

    There are many discussions about the relevance of the topics covered in classes. One subject in particular is the focus of this essay: astronomy. In what sense and to what extent it would be worth to teach it in science or other kind of classes? In this paper we discuss some aspects of the advantages of dealing with this area of knowledge in schools, taking into account the epistemological and axiological dimensions of astronomy, in light of the vision of science as an intelligent dialogue with the world (Bachelard), in addition to the "problematization" knowledge of Paulo Freire. We propose that in fact the Astronomy does not need to be seen as just a new set of contents to be taught, but appears as a set of motivational contents for historical-philosophical discussions, and permit the discussion of concepts of other disciplines. Numerosas discusiones se están llevando a cabo acerca de la pertinencia de los temas tradicionalmente tratados en las clases. Uno de los temas, en particular, es el foco de este ensayo: la astronomía. ¿En qué sentido y en qué medida sería conveniente tratarla en clase, ya sea en clases de ciencias naturales, específicamente en las de astronomía o asignaturas afines? Elaboramos en este artículo algunos aspectos de las ventajas de tratar esta área del conocimiento en las escuelas, teniendo en cuenta las dimensiones epistemológica y axiológica de la astronomía, a la luz de la visión de la ciencia como un diálogo inteligente con el mundo (Bachelard), además de la propuesta del conocimiento "problematizador" de Paulo Freire. Proponemos que en realidad la astronomía no tiene por qué ser vista sólo como un nuevo conjunto de contenidos que se enseñan, sino que aparece como un conjunto de temas de motivación para el debate histórico-filosófico y para permitir la discusión de los conceptos típicos de otras disciplinas. Muitas discussões vêm acontecendo sobre a relevância dos temas abordados em sala de aula. Um tema, em

  2. Obtención de la curva de luz en la ocultación de 35 Sgr por Júpiter el 6 de marzo de 1996

    NASA Astrophysics Data System (ADS)

    Paolantonio, S.; Duffard, R.; Carranza, G.

    La ocultación de la estrella de quinta magnitud 35 Sgr por Júpiter, se produjo el 6 de Marzo de 1996 a las 13 hs. TU. El objetivo era medir el cambio del flujo de la estrella en el ingreso y egreso por el limbo del planeta. Con estos datos se pueden determinar parámetros físicos del planeta (radio, eccentricidad) y de su atmósfera (escala de altura, temperatura, densidad, presión) Para lograr ésto se programó la cámara CCD TH 7896 1024 x 1025 instalada en el telescopio de 1.54 m de Bosque Alegre con el objetivo de lograr 2 imágenes por segundo. De esta forma se obtuvieron 2100 imágenes de la inmersión y otras tantas de la emersión. Hubo que tener grandes precauciones para evitar la saturación del CCD ya que la observación se realizó de día. En este momento las imágenes se encuentran en el Department of Planetary Sciences, Lunar and Planetary Laboratory, University of Arizona, para su reducción.

  3. Pincharse sin infectarse: estrategias para prevenir la infección por el VIH y el VHC entre usuarios de drogas inyectables

    PubMed Central

    MATEU-GELABERT, P.; FRIEDMAN, S.; SANDOVAL, M.

    2011-01-01

    Resumen Objetivo Desde principios de los noventa, en la ciudad de Nueva York se han implementado con éxito programas para reducir la incidencia del virus de la inmunodeficiencia humana (VIH) y, en menor medida, del virus de la hepatitis C (VHC). A pesar de ello, aproximadamente el 70% de los usuario de drogas inyectables (UDI) están infectados por el VHC. Queremos investigar cómo el 30% restante se las ha arreglado para no infectarse. El Staying safe (nombre original del estudio) explora los comportamientos y mecanismos que ayudan a evitar la infección por el VHC y el VIH a largo plazo. Material y métodos Hemos utilizado el concepto de «desviación positiva» aplicado en otros campos de salud pública. Estudiamos las estrategias, prácticas y tácticas de prevención de aquellos UDI que, viviendo en contextos de alta prevalencia, se mantienen sin infectar por VIH y el VHC, a pesar de haberse inyectado heroína durante años. Los resultados preliminares presentados en este artículo incluyen el análisis de las entrevistas realizadas a 25 UDI (17 doble negativos, 3 doble positivos y 5 con infección por el VHC y sin infección por el VIH). Se usaron entrevistas semiestructuradas que exploraban con detalle la historia de vida de los sujetos, incluyendo su consumo de drogas, redes sociales, contacto con instituciones, relaciones sexuales y estrategias de protección y vigilancia. Resultados La intencionalidad es importante para no infectarse, especialmente durante períodos de involución (períodos donde hay un deterioro económico y/o social que llevan al que se inyecta a situaciones de mayor riesgo). Presentamos tres dimensiones independientes de intencionalidad que conllevan comportamientos que pueden ayudar a prevenir la infección: a) evitar «el mono» (síntomas de abstención) asegurando el acceso a la droga; b) «llevarlo bien» para no convertirse en un junkie y así evitar la «muerte social» y la falta de acceso a los recursos, y c) seguir sin

  4. A survey of homopteran species (Auchenorrhyncha) from coffee shrubs and poró and laurel trees in shaded coffee plantations, in Turrialba, Costa Rica.

    PubMed

    Rojas, L; Godoy, C; Hanson, P; Hilje, L

    2001-01-01

    A survey of homopteran species (Auchenorryncha) was conducted in coffee plantations with no shade (C), and in those with shade of either poró (Erythrina poeppigiana) (CP) or poró plus laurel (Cordia alliodora) (CPL), in Turrialba, Costa Rica. A total of 130 species in ten families were collected, dominated by Cicadellidae (82 species). Species richness was highest in the CP system (88), followed by CPL (74) and C systems (60). Five most common species for all systems were Fusigonalia lativittata, Hebralebra nicaraguensis, Neocoelidia sp., Oliarus sp. and Clastoptera sp. Diversification of the coffee agroecosystem favors some species while limiting others, and have no effect on the majority of species. Thus, only F. lativittata, Neocoelidia sp. and Scaphytopius ca. latidens were well represented in all systems, but were more abundant in coffee shrubs. Additionally, the following were the dominant species in each system: Graphocephala sp. 1 (C), F. lativittata (CP) and H. nicaraguensis (CPL). Four species abundant on laurel trees, including H. nicaraguensis, appeared almost exclusively on these tree species. Species similarity was highest on the CP and CPL systems (51% of the species in common), followed by the C and CP (39%) and the C and CPL systems (38%). These findings show that even disturbed systems can harbor many insect species, so that they deserve attention from conservation advocates and biologists.

  5. A Fast Real-Time Polymerase Chain Reaction Method for Sensitive and Specific Detection of the Neisseria gonorrhoeae porA Pseudogene

    PubMed Central

    Hjelmevoll, Stig Ove; Olsen, Merethe Elise; Sollid, Johanna U. Ericson; Haaheim, Håkon; Unemo, Magnus; Skogen, Vegard

    2006-01-01

    Ever since the advent of molecular methods, the diagnostics of Neisseria gonorrhoeae has been troubled by false negative and false positive results compared with culture. Commensal Neisseria species and Neisseria meningitidis are closely related to N. gonorrhoeae and may cross-react when using molecular tests comprising too-low specificity. We have devised a real-time polymerase chain reaction (PCR), including an internal amplification control, that targets the N. gonorrhoeae porA pseudogene. DNA was automatically isolated on a BioRobot M48. Our subsequent PCR method amplified all of the different N. gonorrhoeae international reference strains (n = 34) and N. gonorrhoeae clinical isolates (n = 176) but not isolates of the 13 different nongonococcal Neisseria species (n = 68) that we tested. Furthermore, a panel of gram-negative bacterial (n = 18), gram-positive bacterial (n = 23), fungal (n = 1), and viral (n = 4) as well as human DNA did not amplify. The limit of detection was determined to be less than 7.5 genome equivalents/PCR reaction. In conclusion, the N. gonorrhoeae porA pseudogene real-time PCR developed in the present study is highly sensitive, specific, robust, rapid and reproducible, making it suitable for diagnosis of N. gonorrhoeae infection. PMID:17065426

  6. Prevalencia y factores de riesgo para infecciones del tracto urinario de inicio en la comunidad causadas por Escherichia coli productor de betalactamasas de espectro extendido en Colombia

    PubMed Central

    Blanco, Victor M.; Maya, Juan J.; Correa, Adriana; Perenguez, Marcela; Muñoz, Juan S.; Motoa, Gabriel; Pallares, Christian J.; Rosso, Fernando; Matta, Lorena; Celis, Yamile; Garzon, Martha; Villegas, y María V.

    2016-01-01

    RESUMEN Introducción Las infecciones del tracto urinario (ITU) son frecuentes en la comunidad. Sin embargo, la información de aislamientos resistentes en este contexto es limitada en Latinoamérica. Este estudio tiene como objetivo determinar la prevalencia y los factores de riesgo asociados con ITU de inicio en la comunidad (ITU-IC) causadas por Escherichia coli productor de betalactamasas de espectro extendido (BLEE) en Colombia. Materiales y métodos Entre agosto y diciembre de 2011 se realizó un estudio de casos y controles en 3 instituciones de salud de tercer nivel en Colombia. Se invitó a participar a todos los pacientes admitidos a urgencias con diagnóstico probable de ITU-IC, y se les pidió una muestra de orina. En los aislamien-tos de E. coli se realizaron pruebas confirmatorias para BLEE, susceptibilidad antibiótica, caracterización molecular (PCR en tiempo real para genes bla, repetitive element palindromic PCR [rep-PCR], multilocus sequence typing [MLST] y factores de virulencia por PCR). Se obtuvo información clínica y epidemiológica, y posteriormente se realizó el análisis estadístico. Resultados De los 2.124 pacientes seleccionados, 629 tuvieron un urocultivo positivo, en 431 de estos se aisló E. coli, 54 fueron positivos para BLEE y 29 correspondieron a CTX-M-15. La mayoría de los aislamientos de E. coli productor de BLEE fueron sensibles a ertapenem, fosfomicina y amikacina. La ITU complicada se asoció fuertemente con infecciones por E. coli productor de BLEE (OR = 3,89; IC 95%: 1,10–13,89; p = 0,03). E. coli productor de CTX-M-15 mostró 10 electroferotipos diferentes; de estos, el 65% correspondieron al ST131. La mayoría de estos aislamientos tuvieron 8 de los 9 factores de virulencia analizados. Discusión E. coli portador del gen blaCTX-M-15 asociado al ST131 sigue siendo frecuente en Colombia. La presencia de ITU-IC complicada aumenta el riesgo de tener E. coli productor de BLEE, lo cual debe tenerse en cuenta para ofrecer

  7. Concepciones y concepciones alternativas de estudiantes universitarios/as de biologia y futuros maestros/as de Ciencia de escuela secundaria sobre la teoria de evolucion biologica por seleccion natural

    NASA Astrophysics Data System (ADS)

    Morales Ramos, Egda M.

    La teoria de evolucion biologica (TEB) por seleccion natural es uno de los conceptos unificadores mas importantes del curriculo de Biologia. En Puerto Rico se han hecho pocas investigaciones que abunden sobre las concepciones y concepciones alternativas (CA) que tienen los estudiantes universitarios/as de Biologia y los maestros/as de Ciencia del nivel secundario sobre esta teoria. La politica publica educativa actual establece mediante documentos normativos como los Estandares de contenido y Expectativas de grado del Programa de Ciencias [Puerto Rico Core Standards] la ensenanza de esta teoria. Sin embargo, no se encontraron preguntas sobre la seleccion natural en los ejercicios de practica provistos por el Departamento de Educacion para las pruebas estandarizadas lo cual puede influir para que no se ensene adecuadamente. Las preguntas de investigacion fueron 1. ¿Cuales son las concepciones y concepciones alternativas de estudiantes universitarios/as y de los futuros maestros y maestras de Ciencia sobre la TEB? 2. ¿Cuales conceptos que seleccionan los estudiantes universitarios/as y los futuros maestros y maestras de Ciencia sobre la TEB coinciden con lo aceptado como valido por la comunidad cientifica? y 3. ¿Como comparan las respuestas de la prueba original. v. Entendiendo el cambio biologico que mide concepciones y CA sobre la TEB por seleccion natural, con las de la traducida al idioma espanol? Se utilizo el metodo cuantitativo con un diseno de investigacion transversal por encuesta. La tecnica principal para recopilar los datos fue una prueba con doce items, que formo parte de un instrumento para el cual se recopilaron diversas fuentes de evidencia acerca de su validez. Las muestras estuvieron formadas por 69 estudiantes de Ciencias Naturales y por 16 estudiantes futuros maestros y maestras del nivel secundario de la UPR-RP. Se utilizaron estadisticas descriptivas, analisis de Ji cuadrado y se calcularon los coeficientes alfa de Cronbach y de Spearman

  8. Relación masa-radio para estrellas enanas blancas y la interpretación de recientes mediciones hechas por Hipparcos

    NASA Astrophysics Data System (ADS)

    Panei, J. A.; Althaus, L. G.; Benvenuto, O. G.

    Recientes mediciones de la masa y el radio hechas por Hipparcos de las estrellas enanas blancas 40 Eri B y Procyon B (Shipman, H. & Provencal, J. - ApJ. 1998, 494, 759), sugieren un núcleo compuesto de hierro para dichas estrellas, en lugar de carbono y oxígeno como predice la teoría standard de evolución estelar. Para interpretar estas observaciones, presentamos aquí, relaciones masa-radio para configuraciones degeneradas a temperatura finita para distintas composiciones químicas centrales. Para tal fin hemos calculado secuencias evolutivas de enanas blancas utilizando el código de evolución estelar, desarrollado en el Observatorio de La Plata. Dicho código resuelve las ecuaciones de estructura y evolución estelar mediante la técnica de relajación de Henyey, y esta basado en una descripción física muy detallada y actualizada.

  9. Bifurcación de las soluciones de vientos impulsados por radiación en estrellas Be: formación de líneas

    NASA Astrophysics Data System (ADS)

    Curé, M.; Rial, D.; Cidale, L.; Venero, R.

    Se ha estudiado la topología de la ecuación hidrodinámica no-lineal que describe el perfil de velocidades de vientos impulsados por radiación en estrellas tempranas. Al aplicar este modelo a estrellas Be se encuentra que existen dos tipos De soluciones: la estándar, que describe el viento polar, y una nueva, que describe un viento más denso y lento y que explicaría el disco que se encuentra alrededor de estos objetos. Existe una región de transición en donde ambas soluciones coexisten (bifurcación}). Ambas soluciones satisfacen en esta región las mismas condiciones de borde. Para estas dos soluciones se han obtenido los perfiles de líneas de hidrógeno del visible y del IR, resolviendo el transporte de radiación en el ``comoving frame". Para la solución estándar, se obtienen perfiles con componentes en emisión, mientras que para la nueva solución se obtienen perfiles en absorción. Se comparan cualitativamente los resultados con las observaciones.

  10. Weight of ABCB1 and POR genes on oral tacrolimus exposure in CYP3A5 nonexpressor pediatric patients with stable kidney transplant.

    PubMed

    Almeida-Paulo, G N; Dapía García, I; Lubomirov, R; Borobia, A M; Alonso-Sánchez, N L; Espinosa, L; Carcas-Sansuán, A J

    2017-01-17

    Tacrolimus (TAC) is highly effective for the prevention of acute organ rejection. However, its clinical use may be challenging due to its large interindividual pharmacokinetic variability, which can be partially explained by genetic variations in TAC-metabolizing enzymes and transporters. The aim of this study was to evaluate the influence of genetic and clinical factors on TAC pharmacokinetic variability in 21 stable pediatric renal transplant patients. This study was nested in a previous Prograf to Advagraf conversion clinical trial. CYP3A5, ABCB1 and two POR genotypes were assessed by real-time PCR. The impact on TAC pharmacokinetics of individual genetic variants on CYP3A5 nonexpressors was evaluated by genetic score. Explicative models for TAC AUC0-24h, Cmax and Cmin after Advagraf were developed by linear regression. The built genetic scores explain 13.7 and 26.5% of the total AUC0-24h and Cmin total variability, respectively. Patients genetic information should be considered to monitorizate and predict TAC exposure.The Pharmacogenomics Journal advance online publication, 17 January 2017; doi:10.1038/tpj.2016.93.

  11. IgE Reactivity of Blue Swimmer Crab (Portunus pelagicus) Tropomyosin, Por p 1, and Other Allergens; Cross-Reactivity with Black Tiger Prawn and Effects of Heating

    PubMed Central

    Varese, Nirupama; Zubrinich, Celia; Lopata, Andreas L.; O'Hehir, Robyn E.; Rolland, Jennifer M.

    2013-01-01

    Shellfish allergy is a major cause of food-induced anaphylaxis, but the allergens are not well characterized. This study examined the effects of heating on blue swimmer crab (Portunus pelagicus) allergens in comparison with those of black tiger prawn (Penaeus monodon) by testing reactivity with shellfish-allergic subjects' serum IgE. Cooked extracts of both species showed markedly increased IgE reactivity by ELISA and immunoblotting, and clinical relevance of IgE reactivity was confirmed by basophil activation tests. Inhibition IgE ELISA and immunoblotting demonstrated cross-reactivity between the crab and prawn extracts, predominantly due to tropomyosin, but crab-specific IgE-reactivity was also observed. The major blue swimmer crab allergen tropomyosin, Por p 1, was cloned and sequenced, showing strong homology with tropomyosin of other crustacean species but also sequence variation within known and predicted linear IgE epitopes. These findings will advance more reliable diagnosis and management of potentially severe food allergy due to crustaceans. PMID:23840718

  12. Fuentes de variabilidad en el diagnóstico de gastritis atrófica multifocal asociada con la infección por Helicobacter pylori1

    PubMed Central

    Bravo, Luis Eduardo; Bravo, Juan Carlos; Realpe, José Luis; Zarama, Guillermo; Piazuelo, MarÍa Blanca; Correa, Pelayo

    2014-01-01

    RESUMEN Introducción El mapeo de las diferentes regiones del estómago y el número de fragmentos de mucosa gástrica disponibles para evaluación histopatológica son fuentes importantes de variación en el momento de clasificar y hacer la gradación de la gastritis crónica. Objetivos Estimar la sensibilidad del número de fragmentos de mucosa gástrica necesarios para establecer los diagnósticos de gastritis atrófica con metaplasia intestinal (MI), displasia y estado de infección por Helicobacter pylori. Además evaluar la variabilidad intra-observador en la clasificación de estas lesiones precursoras del cáncer gástrico. Materiales y métodos En una cohorte de 6 años de seguimiento se evaluaron 1,958 procedimientos de endoscopia realizados por dos gastroenterólogos. En cada procedimiento y de cada participante se obtuvieron 5 biopsias de mucosa gástrica que representaban antro, incisura angularis y cuerpo. Un único patólogo hizo la interpretación histológica de las 5 biopsias y proporcionó un diagnóstico definitivo global que se utilizó como patrón de referencia. Cada fragmento de mucosa gástrica examinado condujo a un diagnóstico individual para cada biopsia que se comparó con el patrón de referencia. La variabilidad intra-observador se evaluó en 127 personas que corresponden a una muestra aleatoria de 20% del total de endoscopias hechas a los 72 meses de seguimiento. Resultados La sensibilidad del diagnóstico de MI y displasia gástrica aumentó de manera significativa con el número de fragmentos de mucosa gástrica evaluados El sitio anatómico de mayor sensibilidad para el diagnóstico de MI y displasia fue la incisura angularis. Para descubrir H. pylori se logró alta sensibilidad con el estudio de un solo fragmento de mucosa gástrica (95.9%) y fue independiente del sitio de obtención de la biopsia. El acuerdo intra-observador para el diagnóstico de gastritis crónica fue 86.1% con valor kappa de 0.79 IC 95% (0.76-0.85). Las

  13. A UV-vis study of the effects of alcohols on formation and stability of Mn(por)(O)(OAc) complexes.

    PubMed

    Mohajer, Daryoush; Jahanbani, Maryam

    2012-06-01

    Interactions of three different (acetato) (tetraarylporphyrinato) manganese (III) Mn(III)(por) with tetra-n-butylammonium hydrogen monopersulfate (n-Bu(4)NHSO(5)), in the presence of excess tetra-n-butylammonium acetate (n-Bu(4)NOAc) and in the absence or presence of various alcohols (alcohols=CH(3)OH, C(2)H(5)OH, i-C(3)H(7)OH, t-C(4)H(9)OH) in CH(2)Cl(2), were monitored by their UV-vis spectral changes, under identical conditions, at room temperature. (Acetato) (tetrakispentafluorophenylporphyrinato) manganese (III) Mn(III)(tpfpp)(OAc) and (acetato) (tetramesitylporphyrinato) manganese (III) Mn(III)(tmp)(OAc) produced their corresponding high valent Mn(tpfpp)(O)(OAc) and Mn(tmp)(O)(OAc) both in the absence or presence of alcohols. Whereas, (acetato) (tetraphenylporphyrinato) manganese (III) Mn(III)(tpp)(OAc) only generated Mn(tpp)(O)(OAc) in the presence of less bulky alcohols. In the absence of alcohols or in the presence of t-C(4)H(9)OH, the UV-vis spectra displayed a very weak sign of formation of Mn(tpp)(O)(OAc) complex. It was observed that alcohols generally increased the rate of formation of Mn-oxo species in accordance with their acidity or hydrogen bonding strength, and enhanced the stability of Mn-oxo complexes, as their size increases. Attempts are made to explain these effects. A mechanistic scheme is also suggested for the decomposition of HSO(5)(-) to O(2) and HSO(4)(-), through the formation and dimerization of Mn-oxo species.

  14. A UV-vis study of the effects of alcohols on formation and stability of Mn(por)(O)(OAc) complexes

    NASA Astrophysics Data System (ADS)

    Mohajer, Daryoush; Jahanbani, Maryam

    2012-06-01

    Interactions of three different (acetato) (tetraarylporphyrinato) manganese (III) MnIII(por) with tetra-n-butylammonium hydrogen monopersulfate (n-Bu4NHSO5), in the presence of excess tetra-n-butylammonium acetate (n-Bu4NOAc) and in the absence or presence of various alcohols (alcohols = CH3OH, C2H5OH, i-C3H7OH, t-C4H9OH) in CH2Cl2, were monitored by their UV-vis spectral changes, under identical conditions, at room temperature. (Acetato) (tetrakispentafluorophenylporphyrinato) manganese (III) MnIII(tpfpp)(OAc) and (acetato) (tetramesitylporphyrinato) manganese (III) MnIII(tmp)(OAc) produced their corresponding high valent Mn(tpfpp)(O)(OAc) and Mn(tmp)(O)(OAc) both in the absence or presence of alcohols. Whereas, (acetato) (tetraphenylporphyrinato) manganese (III) MnIII(tpp)(OAc) only generated Mn(tpp)(O)(OAc) in the presence of less bulky alcohols. In the absence of alcohols or in the presence of t-C4H9OH, the UV-vis spectra displayed a very weak sign of formation of Mn(tpp)(O)(OAc) complex. It was observed that alcohols generally increased the rate of formation of Mn-oxo species in accordance with their acidity or hydrogen bonding strength, and enhanced the stability of Mn-oxo complexes, as their size increases. Attempts are made to explain these effects. A mechanistic scheme is also suggested for the decomposition of HSO5- to O2 and HSO4-, through the formation and dimerization of Mn-oxo species.

  15. Estudio teórico de la desorción de Na y K de SiO2 estimulada por la acción de fotones o electrones

    NASA Astrophysics Data System (ADS)

    Domínguez Ariza, D.; López, N.; Illas, F.; Pacchioni, G.; Madey, T. E.

    Se ha estudiado el mecanismo de generación de sodio y potasio atómico a partir de muestras de SiO2 utilizando cálculos basados tanto en la teoría del funcional de la densidad como en métodos post-Hartree Fock, así como en el método de cluster para modelar el sólido. Como consecuencia del estudio se han propuesto distintos caminos posibles para la desorción, estimulada por la acción de fotones o electrones, de sodio y potasio desde el óxido de silicio, proporcionando por lo tanto una explicación a la atmósfera tenue de sodio y potasio de La Luna.

  16. Long-term RNA persistence of porcine rubulavirus (PorPV-LPMV) after an outbreak of a natural infection: the detection of viral mRNA in sentinel pigs suggests viral transmission.

    PubMed

    Cuevas-Romero, S; Hernández-Baumgarten, E; Kennedy, S; Hernández-Jáuregui, P; Berg, M; Moreno-López, J

    2014-08-08

    The persistence of porcine rubulavirus (PorPV-LPMV) in five pigs that had survived an outbreak of a natural infection was determined. After the resolution of the outbreak, each animal was housed in an isolation pen together with one sentinel pig. Approximately every 2 months thereafter one group of animals was euthanized and tissue samples taken for virological and serological analysis. Infectious virus was not isolated from any samples; antibodies to PorPV-LPMV were detected in convalescent pigs by virus neutralisation test and blocking ELISA but not in sentinel pigs. PorPV-LPMV mRNA of the nucleoprotein (NP) and phosphoprotein (P) genes was detected by a nested polymerase chain reaction (nPCR) in samples of trigeminal and optic nerves, cervical spinal cord, tonsils, salivary gland, lung and pancreas from convalescent pigs. mRNA was also detected in the midbrain, corpus callosum, or olfactory bulb in four out of five pigs by nRT-PCR, this result was confirmed by the sequencing of a 260bp PCR product of P gene region. The highest average viral copies/μg of total RNA occurred in the olfactory bulb and pancreas tissues of convalescent pigs and midbrain, tonsil and pancreas of sentinel pigs housed with the convalescent pigs. Satellitosis and gliosis of the midbrain, olfactory bulb, corpus callosum, medulla oblongata or choroid plexus were microscopically observed in four convalescent pigs. The control pig remained negative in all tests. The results indicate that PorPV-LPMV mRNA persists and induces a durable humoral immune response in pigs that have recovered from a natural infection. After a possible reactivation of the virus, it was transmitted to sentinel pigs in contact with the convalescent pigs.

  17. Comparación de resultados del método de clasificación de órbitas por análisis de frecuencias con el método de exponentes de Lyapunov

    NASA Astrophysics Data System (ADS)

    Carpintero, D. D.; Muzzio, J. C.; Wachlin, F. C.

    Hemos realizado extensas comparaciones del método de análisis de frecuencias con el de exponentes de Lyapunov. El primero resulta claramente superior por las siguientes razones: 1) permite distinguir distintos tipos de órbitas y no sólo si son regulares o caóticas 2) es mucho más veloz requiriendo mucho menos tiempo de cómputo. La concordancia de resultados es, en general, buena y se discuten algunas discrepancias.

  18. [Oropharyngeal dysphagia associated with Chiari I malformation and syringomyelia J].

    PubMed

    Cortés-Medina, Julio César; Cárdenas-Lara, Armando; Guerrero-Rascón, Carlos Alberto; Rodríguez-Bautista, Heber

    2014-01-01

    Antecedentes: la disfagia con afección neurológica constituye un dato clínico significativo en el diagnóstico de lesiones que justifiquen la compresión del tronco cerebral y los nervios craneales bajos. Objetivo: destacar la importancia del estudio de la disfagia en una paciente con malformación de Chiari tipo I y siringomielia, sin síntomas gastroenterológicos primarios. Caso clínico: se comunica el caso de una mujer de 62 años de edad con disfagia orofaríngea de seis años de evolución, cervicobraquialgia, ptosis palpebral y diplejía facial. Conclusiones: el estudio por resonancia magnética constituye un elemento fundamental para establecer el diagnóstico causal de la disfagia neurogénica.

  19. La inserción en el mercado laboral de los inmigrantes latinos en España y en los Estados Unidos: Diferencias por país de origen y estatus legal

    PubMed Central

    Connor, Phillip; Massey, Douglas

    2013-01-01

    Resumen Este artículo compara los resultados económicos entre los inmigrantes latinoamericanos en España y Estados Unidos. Detectamos un efecto de selección por el que la mayoría de los inmigrantes latinoamericanos en España proceden de Sudamérica de un entorno de clases medias, mientras la mayoría de los inmigrantes que van a los Estados Unidos son centroamericanos de clase baja. Este efecto de selección explica las diferencias transnacionales en la probabilidad de empleo, logro ocupacional y salarios obtenidos. A pesar de las diferencias en los orígenes y las características de los latinoamericanos en ambos países, los factores demográficos, humanos y de capital social parecen operar de forma similar en ambos países; y cuando los modelos se estiman separadamente por estatus legal, descubrimos que los efectos se acentúan más entre los inmigrantes irregulares cuando se los compara con los regulares, especialmente en Estados Unidos. PMID:24532857

  20. Aquisição fonológica do português brasileiro por crianças ouvintes bilíngues bimodais e surdas usuárias de implante coclear

    PubMed Central

    Cruz, Carina Rebello; Finger, Ingrid

    2014-01-01

    Resumo O presente estudo investiga a aquisição fonológica do Português Brasileiro (PB) por 24 crianças ouvintes bilíngues bimodais, com acesso irrestrito à Língua Brasileira de Sinais (Libras), e por 6 crianças surdas que utilizam implante coclear (IC), com acesso restrito ou irrestrito à Libras. Para a avaliação do sistema fonológico das crianças em PB, foi utilizada a Parte A, Prova de Nomeação, do ABFW – Teste de Linguagem Infantil (ANDRADE et al. 2004). Os resultados revelaram que as crianças ouvintes bilíngues bimodais e a criança surda usuária de IC com acesso irrestrito à Libras apresentaram processo de aquisição fonológica esperada (normal) para a sua faixa etária. Considera-se que a aquisição precoce e o acesso irrestrito à Libras podem ter sido determinantes para o desempenho dessas crianças no teste oral utilizado. PMID:25506105

  1. The Understanding of Astronomy Concepts by Students from Basic Education of a Public School. (Spanish Title: El Entendimiento de Conceptos de Aastronmía Por Los Alumnos de Educación Básica en Una Escuela Pública.) O Entendimento de Conceitos de Astronomia Por Alunos da Educação Básica: O Caso de Uma Escola Pública Brasileira

    NASA Astrophysics Data System (ADS)

    Iria Machado, Daniel; dos Santos, Carlos

    2011-07-01

    We present the results obtained in a research on the comprehension of basic astronomical concepts, in which 561 students from fifth grade middle school to third grade high school of a public school of the city of Foz do Iguaçu (Brazil) took part. A test with 20 multiple-choice questions was applied to indentify the most common conceptions expressed by the students. This test was elaborated based on the literature about misconceptions and covered the following topics: the day-night cycle; the time zones; the seasons of the year; the phases of the Moon; the movement of the Moon; the apparent movement of the Sun in the celestial sphere; the eclipses; the dimensions and distances in the Universe; the brightness of the stars and its observation from Earth. Though a small progress was verified in the proportion of scientifically acceptable answers when comparing the eighth grade of middle school to the fifth, and the third grade of high school to the first, there was an overall predominance of alternative conceptions regarding most of the explored subjects, which persisted up to the last year of secondary school. The comparison to data found in this research made in other socio-cultural contexts revealed, in many aspects, similar notions and difficulties revealed by the students. Se presentan los resultados de una investigación sobre la comprensión de conceptos astronómicos básicos, en la cual participaron 561 estudiantes que cursaban entre el quinto grado de la enseñanza primaria y el tercer año de la enseñanza secundaria de una escuela pública de la ciudad de Foz do Iguaçu (Brasil). Se utilizó un test de 20 preguntas de opción múltiple para identificar las concepciones más comunes expresadas por los estudiantes. Este instrumento de recolección de datos se desarrolló en base a la literatura sobre las concepciones alternativas y trató los siguientes temas: el ciclo día-noche, los husos horarios, las estaciones del año, las fases de la Luna, el

  2. One-step purification and porin transport activity of the major outer membrane proteins P2 from Haemophilus influenzae, FomA from Fusobacterium nucleatum and PorB from Neisseria meningitidis.

    PubMed

    Kattner, Christof; Pfennig, Sabrina; Massari, Paola; Tanabe, Mikio

    2015-03-01

    Bacterial porins are major outer membrane proteins that function as essential solute transporters between the bacteria and the extracellular environment. Structural features of porins are also recognized by eukaryotic cell receptors involved in innate and adaptive immunity. To better investigate the function of porins, proper refolding is necessary following purification from inclusion bodies [1, 2]. Using a single-step size exclusion chromatographic method, we have purified three major porins from pathogenic bacteria, the OmpP2 (P2) from Haemophilus influenzae, FomA from Fusobacterium nucleatum and PorB from Neisseria meningitidis, at high yield and report their unique solute transport activity with size exclusion limit. Furthermore, we have optimized their purification method and achieved improvement of their thermostability for facilitating functional and structural analyses.

  3. Chlamydia trachomatis clinical isolates identified as tetracycline resistant do not exhibit resistance in vitro: whole-genome sequencing reveals a mutation in porB but no evidence for tetracycline resistance genes.

    PubMed

    O'Neill, C E; Seth-Smith, H M B; Van Der Pol, B; Harris, S R; Thomson, N R; Cutcliffe, L T; Clarke, I N

    2013-04-01

    Chlamydia trachomatis is the most common bacterial sexually transmitted infection worldwide and the leading cause of preventable blindness in developing countries. Tetracycline is commonly the drug of choice for treating C. trachomatis infections, but cases of antibiotic resistance in clinical isolates have previously been reported. Here, we used antibiotic resistance assays and whole-genome sequencing to interrogate the hypothesis that two clinical isolates (IU824 and IU888) have acquired mechanisms of antibiotic resistance. Immunofluorescence staining was used to identify C. trachomatis inclusions in cell cultures grown in the presence of tetracycline; however, only antibiotic-free control cultures yielded the strong fluorescence associated with the presence of chlamydial inclusions. Infectivity was lost upon passage of harvested cultures grown in the presence of tetracycline into antibiotic-free medium, so we conclude that these isolates were phenotypically sensitive to tetracycline. Comparisons of the genome and plasmid sequences for the two isolates with tetracycline-sensitive strains did not identify regions of low sequence identity that could accommodate horizontally acquired resistance genes, and the tetracycline binding region of the 16S rRNA gene was identical to that of the sensitive control strains. The porB gene of strain IU824, however, was found to contain a premature stop codon not previously identified, which is noteworthy but unlikely to be related to tetracycline resistance. In conclusion, we found no evidence of tetracycline resistance in the two strains investigated, and it seems most likely that the small, aberrant inclusions previously identified resulted from the high chlamydial load used in the original antibiotic resistance assays.

  4. Characterization of invasive Neisseria meningitidis from Atlantic Canada, 2009 to 2013: With special reference to the nonpolysaccharide vaccine targets (PorA, factor H binding protein, Neisseria heparin-binding antigen and Neisseria adhesin A)

    PubMed Central

    Tsang, Raymond SW; Law, Dennis KS; Gad, Rita R; Mailman, Tim; German, Gregory; Needle, Robert

    2015-01-01

    BACKGROUND: Serogroup B Neisseria meningitidis (MenB) has always been a major cause of invasive meningococcal disease (IMD) in Canada. With the successful implementation of a meningitis C conjugate vaccine, the majority of IMD in Canada is now caused by MenB. OBJECTIVE: To investigate IMD case isolates in Atlantic Canada from 2009 to 2013. Data were analyzed to determine the potential coverage of the newly licensed MenB vaccine. METHODS: Serogroup, serotype and serosubtype antigens were determined from IMD case isolates. Clonal analysis was performed using multilocus sequence typing. The protein-based vaccine antigen genes were sequenced and the predicted peptides were investigated. RESULTS: The majority of the IMD isolates were MenB (82.5%, 33 of 40) and, in particular, sequence type (ST)-154 B:4:P1.4 was responsible for 47.5% (19 of 40) of all IMD case isolates in Atlantic Canada. Isolates of this clone expressed the PorA antigen P1.4 and possessed the nhba genes encoding for Neisseria heparin-binding antigen peptide 2, which together matched exactly with two of the four components of the new four-component meningococcal B vaccine. Nineteen MenB isolates had two antigenic matches, another five MenB and one meningitis Y isolate had one antigenic match. This provided 75.8% (25 of 33) potential coverage for MenB, or a 62.5% (25 of 40) overall potential coverage for IMD. CONCLUSION: From 2009 to 2013, IMD in Atlantic Canada was mainly caused by MenB and, in particular, the B:4:P1.4 ST-154 clone, which accounted for 47.5% of all IMD case isolates. The new four-component meningococcal B vaccine appeared to offer adequate coverage against MenB in Atlantic Canada. PMID:26744586

  5. Eficacia de la detección sistemática de la gripe en las fronteras en los viajeros que llegan por vía aérea*

    PubMed Central

    Priest, Patricia C.; Jennings, Lance C.; Duncan, Alasdair R.; Brunton, Cheryl R.; Baker, Michael G.

    2015-01-01

    Objetivos. Se midieron los síntomas y la prevalencia de la gripe (también llamada influenza), así como la eficacia del mecanismo de detección sistemática basado en los síntomas y la temperatura para diagnosticar la gripe en viajeros internacionales que llegaban por vía aérea. Métodos. El presente estudio transversal recopiló datos de viajeros que llegaron al aeropuerto internacional de Christchurch (Nueva Zelandia) en el invierno del 2008 mediante un cuestionario de salud, medición de la temperatura y toma de muestras de las vías respiratorias. Resultados. De los viajeros, 15 976 (68%) entregaron los formularios completos. De ellos, 17% notificaron al menos un síntoma de gripe; los síntomas más comunes fueron rinorrea o congestión nasal (10%) y tos (8%). Se tomaron muestras de las vías respiratorias de 3 769 viajeros. La prevalencia estimada de la gripe fue de 1,1% (4% en las personas sintomáticas, 0,2% en las asintomáticas). La sensibilidad de los criterios de detección varió de 84% para “cualquier síntoma” a 3% para la fiebre de 37,8 °C o mayor. El valor predictivo positivo fue bajo para todos los criterios. Conclusiones. El método de detección sistemática en las fronteras mediante la autonotificación de síntomas y la toma de la temperatura presenta limitaciones para impedir que una gripe pandémica entre en un país. Basarse en criterios como “cualquier síntoma” o la tos haría que se investigara a varias personas no infectadas, mientras que algunas personas infectadas pasarían inadvertidas. Si se usaran criterios más específicos como la fiebre, la mayoría de las personas infectadas entrarían en el país a pesar del mecanismo de detección.

  6. Rubinstein-Taybi syndrome

    MedlinePlus

    ... and pinna abnormalities Palpebral slant - eye Short stature Review Date 8/1/2015 Updated by: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by ...

  7. Por los Ninos (For the Children): Education of Undocumented Children.

    ERIC Educational Resources Information Center

    Gonzalez, Elena R.; Team, Linda B.

    Published as a special project of Texas IMPACT and the Texas Conference of Churches, this booklet outlines legal aspects of the education of undocumented children, lists moral and practical reasons for educating them, provides reasons for changing the Texas law which prohibits use of state funds for education of children who are not legally…

  8. La busqueda textual por computadora (Textual Search by Computer)

    ERIC Educational Resources Information Center

    Davison, Ned J.

    1977-01-01

    Describes the use of the computer program EDIT for textual searches to locate a certain programmed word or word root. In the examples explained here, the vocabulary search is performed on poetry and allows examination of the metaphorical and conceptual poetic atmosphere achieved through word use. (Text is in Spanish.) (CHK)

  9. Decade of Venezuela’s President Hugo Chavez, Por Ahora

    DTIC Science & Technology

    2009-04-01

    controversial expansion of control was seen with Venezuela’s state-owned oil company Petroleos de Venezuela S.A. ( PDVSA ), which, to this day has been...grew in response corruption reports related to the siphoning off money from PDVSA . In 2002, pro-Hugo Chavez groups, ‘Chavistas,’ engaged in...protest.16 Within a few days, the counter-coup facilitated Chavez’s return to power but problems remained. PDVSA witnessed a devastating strike

  10. Síndrome del Outlet Torácico: ¿Una Patología Siempre Quirúrgica? Análisis de una Serie de 31 Cirugías Realizadas por Vía Supraclavicular Serie clínica

    PubMed Central

    Socolovsky, Mariano; Di Masi, Gilda; Binaghi, Daniela; Campero, Álvaro; Páez, Miguel Domínguez; Dubrovsky, Alberto

    2014-01-01

    Introducción: El síndrome de outlet torácico es una compresión del plexo braquial que suscita polémica. Se clasifica en Outlet Torácico Verdadero o neurogénico (OTV) y Outlet Torácico Disputado o no neurogénico (OTD). El primero presenta síntomas motores en la mano, mientras que el segundo sólo síntomas sensitivos en el miembro superior. El objetivo de este trabajo es analizar los resultados obtenidos en una serie de 31 cirugías. Métodos: Se analizaron las cirugías de nervios efectuadas entre 2003-2012, tomando los diagnósticos de outlet torácico cuyo período de seguimiento post-operatorio mínimo fuera de 6 meses. Se buscaron los siguientes datos: edad, sexo, presencia de síntomas sensitivos y/o motores, clasificación, resultado de los estudios neurofisiológicos y de imágenes, resultado de la cirugía, complicaciones post-operatorias y recidivas. Resultados: Se incluyeron 31 cirugías realizadas en 30 pacientes, 9 OTV (8 mujeres) de 24.3 años, y 21 con OTD (18 mujeres) de 37.4 años de edad en promedio. Un 90% presentaron alteraciones neurofisiológicas preoperatorias, y 66,6% imagenológicas. En el intraoperatorio, el 100% de los OTV presentó una alteración anatómica relacionada con la sintomatología, hecho observado sólo en el 36.7% de los OTD operados. El 87,5% de los OTV mejoraron sensitivamente, mientras que 77,7% mejoraron la atrofia. Por el contrario, 45.4% de los OTD mejoraron permanentemente, 36.3% no tuvieron cambios, 13.6% mejoraron transitoriamente y 4.5% (un caso) empeoró. Las complicaciones post-operatorias fueron más frecuentes aunque transitorias en el grupo de OTV (3 casos sobre 9 operados, 33.3%) que en los OTD (3 casos sobre 22, un 13.6%). Conclusión: El OTV suele mayormente mejorar luego de la cirugía, igual que el OTD aunque en una proporción mucho menor. Estos hallazgos coinciden con otros reportes recientes de esta patología. PMID:25165614

  11. A Comparison Between PSRK and GERG-2004 Equation of State for Simulation of Non-Isothermal Compressible Natural Gases Mixed with Hydrogen in Pipelines / Porównanie równań stanu opracowanych według metody PSRK oraz GERG-2004 wykorzystanych do symulacji zachowania ściśliwych mieszanin gazu ziemnego i wodoru w rurociągach, w warunkach przepływów nie-izotermicznych

    NASA Astrophysics Data System (ADS)

    Uilhoorn, Frits E.

    2013-06-01

    In this work, the GERG-2004 equation of state based on a multi-fluid approximation explicit in the reduced Helmholtz energy is compared with the predictive Soave-Redlich-Kwong group contribution method. In the analysis, both equations of state are compared by simulating a non-isothermal transient flow of natural gas and mixed hydrogen-natural gas in pipelines. Besides the flow conditions also linepack-energy and energy consumption of the compressor station are computed. The gas flow is described by a set of partial differential equations resulting from the conservation of mass, momentum and energy. A pipeline section of the Yamal-Europe gas pipeline on Polish territory has been selected for the case study. W artykule dokonano porównania wyników uzyskanych przy wykorzystaniu równania stanu GERG- 2004 opartego na jawnym przybliżeniu wyników dla wielu cieczy w oparciu o zredukowaną energię Helmhotza oraz wyników uzyskanych w oparciu o metodę Soave-Redlich Kwonga. Obydwa równania stanu porównano poprzez przeprowadzenie symulacji stanów przejściowych przepływów gazu ziemnego oraz mieszanin gazu ziemnego i wodoru w rurociągach w warunkach przepływów nie-izotermicznych. Oprócz warunków przepływu, określono energię w napełnionym układzie oraz zużycie energii przez stację kompresora. Przepływ gazu opisano zbiorem równań różniczkowych cząstkowych, wyprowadzonych w oparciu o prawa zachowania masy, pędu i energii. Jako studium przypadku wybrano fragment rurociągu jamalskiego (Yamal- Europa) przebiegającego przez terytorium Polski.

  12. An innovative impression technique for fabrication of a custom made ocular prosthesis

    PubMed Central

    Tripuraneni, Sunil Chandra; Vadapalli, Sriharsha Babu; Ravikiran, P; Nirupama, N

    2015-01-01

    Various impression and fitting techniques have been described in the past for restoring ocular defects. The present article describes a new direct impression technique for recording and rehabilitating ocular defects, by custom-made ocular prosthesis. All the techniques described in the history, mainly concentrated in recording the tissue surface of the defect, which made it difficult to contour the palpebral surface resulting in the poor esthetics of the prosthesis. The present impression technique uses heavy bodied polyvinyl siloxane impression material, which facilitates accurate recording of the tissue surface and the palpebral surface of the defect, resulting in the fabrication of functionally and esthetically acceptable prosthesis. PMID:26265651

  13. Ascher's syndrome: A rare case report

    PubMed Central

    Chandravanshi, Shivcharan Lal; Mishra, Vinay

    2015-01-01

    An 18-year-old Indian girl with upper lip deformity presented with on and off painless swelling of her both upper eyelids for 3 years. Clinical evaluation revealed bilateral blepharochalasis, narrowing of horizontal palpebral fissure, decreased outer intercanthal distance, iris coloboma, cleft soft palate, bifid uvula, sensorineural deafness and double upper lip. Clinical examination of the thyroid, thyroid hormone assay and ultrasonography revealed normal thyroid gland structure and function. Ascher's syndrome was diagnosed. To our knowledge, this is the first reported case of Ascher's syndrome associated with iris coloboma, heterochromia iridum, and narrowing of horizontal palpebral fissure and decreased outer intercanthal distance secondary to lengthening of lateral canthal ligament. PMID:25971175

  14. Three eyelid localized cutaneous anthrax cases.

    PubMed

    Esmer, Oktay; Karadag, Remzi; Bilgili, Serap Gunes; Gultepe, Bilge; Bayramlar, Huseyin; Karadag, Ayse Serap

    2014-12-01

    Anthrax is primarily seen in the developing countries, but it can be a worldwide medical concern due to bioterrorism threats. Palpebral anthrax is a rare form of cutaneous anthrax. Untreated cutaneous anthrax can be lethal. Patients with palpebral anthrax can develop complications including cicatrisation and ectropion. Thus, anthrax should be considered in differential diagnosis for patients presenting with preseptal cellulitis in high-risk regions. Herein, we report three anthrax cases (with different age) involving eyelids that were cured without any complications due to early diagnosis and treatment.

  15. Ascher's syndrome: A rare case report.

    PubMed

    Chandravanshi, Shivcharan Lal; Mishra, Vinay

    2015-03-01

    An 18-year-old Indian girl with upper lip deformity presented with on and off painless swelling of her both upper eyelids for 3 years. Clinical evaluation revealed bilateral blepharochalasis, narrowing of horizontal palpebral fissure, decreased outer intercanthal distance, iris coloboma, cleft soft palate, bifid uvula, sensorineural deafness and double upper lip. Clinical examination of the thyroid, thyroid hormone assay and ultrasonography revealed normal thyroid gland structure and function. Ascher's syndrome was diagnosed. To our knowledge, this is the first reported case of Ascher's syndrome associated with iris coloboma, heterochromia iridum, and narrowing of horizontal palpebral fissure and decreased outer intercanthal distance secondary to lengthening of lateral canthal ligament.

  16. Blue nevus of the tarsus as the predominant component of a combined nevus of the eyelid.

    PubMed

    Jakobiec, Frederick A; Stacy, Rebecca C; Thakker, Manoj M

    2011-01-01

    A 40-year-old man presented with a pigmented lesion of the palpebral conjunctiva and margin of the right lower eyelid. Because of suspicion of melanoma, the lesion was resected. Microscopic examination revealed 2 distinct components: a dominant blue nevus in the tarsus consisting of bland pigmented spindle and epithelioid cells that dissected among the orbicularis muscle fibers and meibomian glands, and a small subepithelial nevomelanocytic component with no overlying junctional activity. The diagnosis of a combined nevus was supported by minimal Ki-67 nuclear immunoreactivity. While the current lesion was proved to be an atypical nevus, all palpebral pigmented lesions should be routinely excised because many are melanomas.

  17. See the World on the Internet: Tips for Parents of Young Readers--and "Surfers" = Vea el mundo por Internet: Ideas por padres de jovenes lectores y exploradores.

    ERIC Educational Resources Information Center

    Moss, Jeanette

    Regardless of whether a parent has Internet access at home, it is essential that parents learn with their children and be aware of where their travels on the Internet are taking them. Many libraries have Internet workshops for parents or children or both. In the excitement of looking at sites, children may not even realize they are reading. Many…

  18. Raising the suborbicularis oculi fat (SOOF): its role in chronic facial palsy

    PubMed Central

    Olver, J.

    2000-01-01

    AIMS—To determine the adjuvant role of unilateral suborbicularis oculi fat (SOOF) lift in the periorbital rehabilitation of patients with chronic facial palsy.
METHODS—In a non-comparative prospective case series nine adult patients (seven male, two female) aged 34-90 years (mean 60.5) with chronic unrecovered facial palsy (over 1 year), who had not had any previous rehabilitative periorbital surgery, were studied. Lateral tarsal strip and adjuvant transconjunctival approach subperiosteal SOOF lift under local or general anaesthesia were performed; medial canthoplasty was performed where indicated. There was clinical observation of the long term (over 1 year) effect on the ptotic palpebral-malar sulcus and lower eyelid retraction.
RESULTS—The patients were followed up for 12-24 months (mean 16). Seven patients (77%) had sustained clinical reduction of palpebral-malar sulcus ptosis. All patients had sustained reduction of lagophthalmos. Early postoperative complications included conjunctival cheimosis in 77%. Three patients with persistent keratitis required further surgical procedures on their upper eyelid to reduce the palpebral aperture. There were no cases of infraorbital nerve anaesthesia or recurrent lower eyelid retraction.
CONCLUSIONS—The SOOF lift has an adjuvant role in chronic facial palsy with lower eyelid retraction and ptotic-palpebral malar sulcus. It supports the lower eyelid elevation and tightening achieved with the lateral tarsal strip. The best results were obtained in congenital facial palsy.

 PMID:11090482

  19. [Migraine with prolonged eyelid edema: a series of 10 cases].

    PubMed

    Toribio-Díaz, M E; Cuadrado-Pérez, M L; Peláez, A; Aledo-Serrano, Angel; Pedraza, M Isabel; Porta-Etessam, Jesús; Guerrero-Peral, Angel L

    2014-05-01

    Introduccion. La migraña puede cursar con sintomas autonomicos craneales propios de las cefaleas trigeminoautonomicas, lo que plantea dificultades en el diagnostico. Objetivo. Describir una serie de diez pacientes con edema palpebral asociado a la migraña. Pacientes y metodos. Diez pacientes atendidos en la consulta de cefaleas de tres hospitales (nueve mujeres, un varon; edad: 26-53 años), con edema palpebral recurrente asociado a la migraña. Resultados. Segun los criterios diagnosticos de la Clasificacion Internacional de las Cefaleas (ICHD-III, version beta), ocho pacientes presentaban migraña sin aura, una tenia migraña con aura y otra, migraña cronica. El edema palpebral aparecia durante las crisis de migraña mas intensas, y tenia mayor duracion que la cefalea. Se descartaron causas farmacologicas o sistemicas del edema en todos los casos. Otros sintomas autonomicos asociados fueron la inyeccion conjuntival (n = 3), el lagrimeo (n = 2) y la rinorrea (n = 1). Tanto el dolor como el edema asociado respondieron a los tratamientos sintomaticos y preventivos de la migraña. Conclusiones. El edema palpebral es un posible acompañante de la migraña. Aparece en algunos pacientes con los episodios de mayor intensidad, y responde al tratamiento sintomatico y preventivo de la migraña.

  20. Genetics Home Reference: Kaufman oculocerebrofacial syndrome

    MedlinePlus

    ... the eye opening ( blepharophimosis ), skin folds covering the inner corner of the eyes ( epicanthal folds ), droopy eyelids ( ptosis ), and outside corners of the eyes that point upward ( upslanting palpebral fissures ). Ear abnormalities include low-set ears with small lobes and ...

  1. Infant with multiple congenital anomalies and deletion (9) (q34.3)

    SciTech Connect

    Schimmenti, L.A.; Berry, S.A.; Tuchman, M.; Hirsch, B.

    1994-06-01

    The authors report on a male infant with developmental delay, growth failure, hypotonia, dolichocephaly, hypoplastic midface, epicanthal folds, down-slanting palpebral fissures, foveal hypoplasia, tracheomalacia, pectus excavatum, supraventricular tachycardia, gut malrotation, hypospadias, talipes equinovarus, short third metatarsals, capillary hemangiomata, and a de novo terminal deletion at 9q34.3.

  2. Linear scleroderma associated with ptosis and motility disorders.

    PubMed Central

    Suttorp-Schulten, M S; Koornneef, L

    1990-01-01

    A case is reported in which an 11-year-old girl developed progressive ptosis and a subsequent motility disorder of the right eye. The diagnosis linear scleroderma en coup de sabre was established. Atrophy of the upper levator palpebral and superior rectus muscle could be shown on CT scan. Images PMID:2223709

  3. Severe unilateral buphthalmos in a 4-month-old kitten.

    PubMed

    Finnie, Gillian

    2017-03-01

    A 4-month-old kitten was presented with unilateral buphthalmos. The eye was blind with no menace response, but intraocular pressure was normal. A trans-palpebral enucleation was performed on the affected eye and the globe was submitted for histology. There was a suppurative, lympho-plasmacytic panophthalmitis with inflammatory exudate in the iridocorneal angle.

  4. Comparative Evaluation of Oculometric Variables in Graves’ Ophthalmopathy

    PubMed Central

    Miot, Hélio Amante; dos Santos Fernandes, Leonardo Parr; Jorge, Edson Nassib; Pivotto, Daniel Rosito; Nogueira, Célia Regina; da Silva Mazeto, Gláucia Maria Ferreira

    2009-01-01

    OBJECTIVES To estimate oculometric parameters of Graves’ ophthalmopathy in comparison to healthy eyes using digital photography and digital image analysis. INTRODUCTION Graves’ ophthalmopathy is the main cause of eye proptosis. Because these protrusions cause clinically perceived distortions in orbital architecture, digital photographs can be used to detect and quantify these changes. METHODS We carried out a cross-sectional study comprising 12 healthy volunteers and 15 Graves’ ophthalmopathy patients with the purpose of evaluating the use of simple, non-invasive digital photography to estimate oculometric parameters of Graves’ ophthalmopathy and compare them with the parameters of unaffected eyes. Facial photographs of cases and controls were taken in a standardized manner. Oculometric parameters were compared between the groups and then correlated to proptometer measures. RESULTS All estimated oculometric variables showed significant differences between the groups, in particular with regard to mediopupilar aperture, lateral height, distance from the iris edge to the lateral boundary of the palpebral fissure, and distance from the higher point of the iris to the lateral limit of the palpebral fissure. The product of medial aperture and horizontal palpebral fissure also revealed greater discrepancy between the groups. Proptometer measures showed significant linear correlation between the distance from the iris edge to the lateral boundary of the palpebral fissure and between the distance from the higher point of the iris to the lateral limit of palpebral fissure (p<0.05). CONCLUSIONS Comparative analysis of oculometric parameters in Graves’ ophthalmopathy suggests that eye proptosis is related to an asymmetric increase in lateral oculometric measures. Standardized digital photographs can be used in clinical practice to objectively estimate oculometric parameters of Graves’ ophthalmopathy patients. PMID:19759882

  5. Chen’s Double Eyelid Fold Ratio

    PubMed Central

    Chen, Chen-Chia; Tai, Hao-Chih

    2016-01-01

    Background: Double eyelidplasty can construct palpebral folds and enhance beauty perception for Asians with single eyelids. A new palpebral parameter for the quantitative interpretation of surgical outcomes is proposed on the basis of a photometric study of the altered proportions of Asian eyes after double eyelid operation. Methods: A total of 100 Asian adults with single upper eyelids who were satisfied with the enlarged eyes by operation were included in the study. A retrospective measurement of palpebral parameters in the frontal profile both preoperatively and 6 months postoperatively was performed. The proportions of various parameters in the eyebrow–eye aesthetic unit were calculated and analyzed. Results: Double eyelidplasty can augment the vertical dimension of palpebral fissure by 27.9% increase on average. The vertical ratio of palpebral fissure to the eyebrow–eye unit is augmented by 34.4% increase. The vertical ratio of the subunit below double eyelid fold peak to the unit is augmented by 82.6% increase. Conclusions: Double eyelidplasty can substantially enlarge the vertical dimensions of the eyes of Asians with single eyelids. The eyes are perceived to be larger because of the visually assimilated illusion of the superimposed eyelid fold and the relative proportions of the eyebrow–eye unit. The authors propose using a vertical ratio of the subunit below double eyelid fold peak in the eyebrow–eye unit to measure the visually perceived proportion of the eye in the unit. This ratio can be applied clinically for a quantitative evaluation of the surgical outcome after double eyelidplasty. PMID:27200243

  6. Ensenando El Espanol por Medio de Accion (Teaching Spanish through Action).

    ERIC Educational Resources Information Center

    Segal, Bertha

    A teaching guide containing 102 elementary to intermediate level Spanish lessons is presented. The lessons are based on the Total Physical Response technique of second language teaching. They follow the stages of first language acquisition: listening, speaking, and reading. Each of the ten units contains a list of new vocabulary words, individual…

  7. Master equipment list 500 CFM portable exhauster POR-005 skid C

    SciTech Connect

    KRISKOVICH, J.R.

    1999-07-08

    The Master Equipment List (MEL) lists all the major components of the 500 cfm exhauster PORO5. The purpose of this Master Equipment List is to provide basic information and references to other documents for the listed components.

  8. Teaching Probability for Conceptual Change (La Ensenanza de la Probabilidad por Cambio Conceptual).

    ERIC Educational Resources Information Center

    Castro, Cesar Saenz

    1998-01-01

    Presents a theoretical proposal of a methodology for the teaching of probability theory. Discusses the importance of the epistemological approach of Lakatos and the perspective of the conceptual change. Discusses research using a proposed didactic method with Spanish high school students (N=6). Concludes that significant differences on all…

  9. Producao d Dijatos por Dupla Troca de Pomeron Exclusiva no Experimento D0

    SciTech Connect

    Murilo Santana Rangel

    2008-01-01

    The first search for exclusive diffractive dijet production with invariant mass ≳ 100 GeV in Run II of the Fermilab Tevatron Collider is performed. The set of data used is the Run IIa, corresponding to an integrated luminosity of 30 pb-1 of p$\\bar{p}$ collisions at √s = 1.96 TeV taken with the D0 detector. At 95% CL, an upper limit for the ratio between the number of diffractive exclusive events and the number of non diffractive events is set to be 7.5 x 10-6, excluding two of the three models proposed to explain this production.

  10. Abuso sexual por parte de los empleados del colegio (Sexual Misconduct by School Employees). ERIC Digest.

    ERIC Educational Resources Information Center

    Goorian, Brad

    This digest in Spanish defines sexual misconduct and offers guidelines that school boards and administrators can initiate to protect students from unwanted sexual behavior. The law recognizes two types of sexual misconduct: quid pro quo, when a school employee grants a student a favor in exchange for sexual gratification, and hostile environment,…

  11. El Titulo IX y La Discriminacion por Sexo (Title IX and Sex Discrimination).

    ERIC Educational Resources Information Center

    Office for Civil Rights (ED), Washington, DC.

    Title IX of the Education Amendments of 1972 protects people from discrimination based on sex in education programs or activities that receive Federal financial assistance. This brochure outlines the responsibilities of education programs and activities covered by Title IX, the responsibilities of the Office for Civil Rights (OCR) in enforcing…

  12. Renovando la Esperanza por una Educacion sin Exclusiones (Rekindling the Hope for an Education without Exclusion).

    ERIC Educational Resources Information Center

    Revista Interamericana de Educacion de Adultos, 2001

    2001-01-01

    Articles in this issue, written in Spanish, focus on the following: current status and outlook of youth and adult education; opening statement of the 50th anniversary commemoration; regional framework for the education of youth and adults in Latin America and the Caribbean; interculturalism and the education of youth and adults; participation of…

  13. Pulsaciones excitadas por la quema de hidrógeno en enanas blancas

    NASA Astrophysics Data System (ADS)

    Camisassa, M. E.; Córsico, A. H.; Althaus, L. G.

    2016-08-01

    Recent works show that low-mass white dwarfs derived from low-metallicity progenitors, in the absence of third dredge-up episodes during the asymptotic giant branch, are born with a hydrogen envelope thick enough to make stable hydrogen shell burning the most important energy source even at low luminosities. This extra source of energy delays the cooling times of these white dwarfs. Furthermore, in this type of stars some pulsational -modes could be excited by the epsilon mechanism due to the hydrogen shell burning. Motivated by these results, we decided to explore the pulsational properties of this type of stars, aimed at constraining hydrogen shell burning and the occurrence of third dredge-up during the AGB evolution of the progenitor stars. For this purpose, we have constructed nonadiabatic pulsation models of white dwarfs from low-metallicity progenitors with . Our calculations show that some modes are excited due to hydrogen shell burning.

  14. Microbicidas Metodo de Prevencion en VIH/SIDA Controlado por Mujeres.

    PubMed

    Ruiz, Cindy; Torres, Viviana; Cianelli, Rosina; Ferrer, Lilian

    2009-03-01

    HIV/AIDS continues to expand throughout the world, and in recent times has had a severe impact on the number of women living with HIV. Access to methods of prevention for HIV/AIDS around the world is limited and for many women may not be feasible. Examples of such methods are sexual abstinence, which though recognized as an effective method of prevention is difficult for many women to achieve. Mutual fidelity is another option, but many women cannot control the sexual behavior of their partners. Finally, the male condom continues to be an available method of HIV prevention for sexually active people. However, in many places, gender inequality, social norms, and economic disparities severely limit women's capacity to negotiate the use of a condom with their partner. For this reason, an urgent need exists to develop a product for the prevention of HIV/AIDS that can be handled by women. Microbicides, products that can reduce HIV risk when applied intravaginally, hold promise for stopping the advance of HIV/AIDS, especially when considering that women can make their own decisions about whether to use them when other methods of prevention are not available. The objective of the current literature review was to understand the scientific advances related to microbicides in the prevention of HIV/AIDS in women through the analysis of available literature in this area. Interest in this topic emerged from the need to contribute to women's health and HIV/AIDS prevention. To achieve this review's objective, a search was carried out in multiple databases, including OVID, PUBMED, PROQUEST, and CINAHL, as well as published materials from organizations related to this area such as UNAIDS and CONASIDA, and literature available from the Internet. Upon completion of the literature review, it was concluded that microbicides are an effective method for preventing HIV/AIDS for women as well as their partners. Although they have a high level of acceptance among the female population, the majority of microbicides are still in clinical studies, requiring further evaluation for their safe use in humans. There are 3 microbicides in the final phases of clinical studies that will soon be available on the market. One of these was found to be 60% effective in protecting against the transmission of HIV and was used by women in 50% of their sexual activity, which resulted in avoiding approximately 2.5 million new HIV infections in men, women, and children over a 3-year period.

  15. Home before You Know It = De regres en casa en un dos por tres.

    ERIC Educational Resources Information Center

    Vida Health Communications, Inc., Cambridge, MA.

    The arrival of a newborn requires a great deal of adjustment. Intended for new and expectant parents, this booklet and companion video provide practical advice and hands-on demonstrations of the essentials of mother and baby care, from birth to the first visit to the pediatrician. The first part of the booklet, which comes in both English- and…

  16. El Libro de la Escritura por Pinguino Tinto (The Writing Book, by Inky Penguin).

    ERIC Educational Resources Information Center

    Padgett, Ron

    Presented completely in Spanish and intended for elementary level students, this book offers 12 writing ideas and several suggestions on how students can make a book using their writing. Each writing idea is presented with a brief description (addressed to the student), several examples of student writing, and a blank page on which to write.…

  17. Looking for a Job: Step by Step = Buscando Trabajo: Paso por Paso.

    ERIC Educational Resources Information Center

    Edwards, Patricia

    This bilingual document provides guidelines and learning activities to assist migrant workers in looking for a job. The document covers the following areas: (1) a checklist providing an overview of job search skills; (2) developing a fact sheet of personal information; (3) listing good work qualities; (4) identifying references and securing…

  18. Evolución de una protuberancia observada por el HASTA

    NASA Astrophysics Data System (ADS)

    Luoni, M. L.; Francile, C.

    Prominence eruptions are one of the most spectacular manifestations of solar activity; in addition to flares and coronal mass ejections. Both filaments and prominences are chromospheric material suspended in the corona by the magnetic field. Hence their importance as tracers of field ejections. Some parts of their magnetic structure are not well understood; especially with regard to the loss of stability. On 06 December 2010 the H-Alpha Telescope for Argentina (HASTA) observed a prominence in the eastern solar limb including when part of it was ejected. In this paper the evolution of the filament is analyzed; its structure before and after the eruption; determining parameters that characterize it from HASTA data. FULL TEXT IN SPANISH

  19. Microbicidas Metodo de Prevencion en VIH/SIDA Controlado por Mujeres

    PubMed Central

    Ruiz, Cindy; Torres, Viviana; Cianelli, Rosina; Ferrer, Lilian

    2016-01-01

    HIV/AIDS continues to expand throughout the world, and in recent times has had a severe impact on the number of women living with HIV. Access to methods of prevention for HIV/AIDS around the world is limited and for many women may not be feasible. Examples of such methods are sexual abstinence, which though recognized as an effective method of prevention is difficult for many women to achieve. Mutual fidelity is another option, but many women cannot control the sexual behavior of their partners. Finally, the male condom continues to be an available method of HIV prevention for sexually active people. However, in many places, gender inequality, social norms, and economic disparities severely limit women's capacity to negotiate the use of a condom with their partner. For this reason, an urgent need exists to develop a product for the prevention of HIV/AIDS that can be handled by women. Microbicides, products that can reduce HIV risk when applied intravaginally, hold promise for stopping the advance of HIV/AIDS, especially when considering that women can make their own decisions about whether to use them when other methods of prevention are not available. The objective of the current literature review was to understand the scientific advances related to microbicides in the prevention of HIV/AIDS in women through the analysis of available literature in this area. Interest in this topic emerged from the need to contribute to women's health and HIV/AIDS prevention. To achieve this review's objective, a search was carried out in multiple databases, including OVID, PUBMED, PROQUEST, and CINAHL, as well as published materials from organizations related to this area such as UNAIDS and CONASIDA, and literature available from the Internet. Upon completion of the literature review, it was concluded that microbicides are an effective method for preventing HIV/AIDS for women as well as their partners. Although they have a high level of acceptance among the female population, the majority of microbicides are still in clinical studies, requiring further evaluation for their safe use in humans. There are 3 microbicides in the final phases of clinical studies that will soon be available on the market. One of these was found to be 60% effective in protecting against the transmission of HIV and was used by women in 50% of their sexual activity, which resulted in avoiding approximately 2.5 million new HIV infections in men, women, and children over a 3-year period. PMID:28111528

  20. Enfermedad diarreica aguda por Escherichia coli patógenas en Colombia

    PubMed Central

    Gómez-Duarte, Oscar G.

    2014-01-01

    Resumen Las cepas de E. coli patógenas intestinales son causas importantes de la enfermedad diarreica aguda (EDA) en niños menores de 5 años en América Latina, África y Asia y están asociadas a alta mortalidad en niños en las comunidades más pobres de África y el Sudeste Asiático. Estudios sobre el papel de las E. coli patógenas intestinales en la EDA infantil en Colombia y otros países de América Latina son limitados debido a la carencia de ensayos para detección de estos patógenos en los laboratorios clínicos de centros de salud. Estudios recientes han reportado la detección de E. coli patógenas intestinales en Colombia, siendo la E. coli enterotoxigénica la cepa más frecuentemente asociada a diarrea en niños menores de 5 años. Otros patógenos detectados en estos pacientes incluyen las E. coli enteroagregativa, enteropatógena, productora de toxina Shiga, y de adherencia difusa. Con base en estudios que reportan la presencia de E. coli productora de toxina Shiga y E. coli enteroagregativa en carnes y vegetales en supermercados, se cree que productos alimentarios contaminados contribuyen a la transmisión de estos patógenos y a la infección del huésped susceptible. Más estudios son necesarios para evaluar los mecanismos de transmisión, el impacto en la epidemiologia de la EDA, y las pautas de manejo y prevención de estos patógenos que afectan la población pediátrica en Colombia. PMID:25491457

  1. PREJUICIO Y DISTANCIA SOCIAL HACIA PERSONAS HOMOSEXUALES POR PARTE DE JÓVENES UNIVERSITARIOS

    PubMed Central

    Fernández Rodríguez, María del C.; Squiabro, José Calderón

    2014-01-01

    Se realizó un estudio descriptivo transversal con el propósito de explorar actitudes de rechazo y distancia social hacia las personas gays y lesbianas (GL) en 565 universitarios. Se utilizó una escala para medir Prejuicio y otra escala para medir Distancia Social. Los participantes reflejaron niveles moderados de prejuicio y distancia social (DS) hacia las personas gays y lesbianas. Los varones (M=104.5, DT= 27.47) mostraron significativamente más prejuicio que las mujeres (M=98.8, DT= 23.41). Los hombres (M=22.7, DT= 7.00) mostraron significativamente mayor DS que las mujeres (M=21.1, DT= 5.41). Las personas que asisten con regularidad a la iglesia mostraron más prejuicio y DS que los que no asisten. Se analiza importancia de incluir el tema de la diversidad sexual a través del currículo para desmontar prejuicios hacia la comunidad homosexual. PMID:25606066

  2. The Escuela Moderna Movement of Francisco Ferrer: "Por la Verdad y la Justicia."

    ERIC Educational Resources Information Center

    Fidler, Geoffrey C.

    1985-01-01

    The educational theory and practice of the Escuela Modern (Modern School) movement of the Spanish educator Francisco Ferrer, born in 1850, are discussed. Two fundamental tendencies of the movement are child-centered education and education in didactic terms. (RM)

  3. Luchando por una educacion: A Qualitative Understanding of Undocumented Latina/o College Student Motivation

    ERIC Educational Resources Information Center

    Navarro, Elvia Lorena

    2013-01-01

    The current qualitative study explored the factors and resources that motivate undocumented Latino/a college students to persist in higher education. Through the data obtained from the four qualitative open-ended survey questions, a content analysis revealed specific codes, themes, and subthemes addressing the factors and resources that motivate…

  4. Language and La Academia, If English Works, Por Que Se Emplea Espanol?

    ERIC Educational Resources Information Center

    Jonz, Jon G.

    1978-01-01

    The dynamics of Mexican American nationalism reflected in the publications of the Academia de la Nueva Raza and in a 1971 work by Ricardo Sanchez are examined in this article. The connection between language and ideology is discussed in the context of Chicano nationalist writing. (GC)

  5. Phantom of RAMSES (POR): A new Milgromian dynamicsN-body code

    NASA Astrophysics Data System (ADS)

    Lüghausen, Fabian; Famaey, Benoit; Kroupa, Pavel

    2015-02-01

    Since its first formulation in 1983, Milgromian dynamics (MOND) has been very successful in predicting the gravitational potential of galaxies from the distribution of baryons alone, including general scaling relations and detailed rotation curves of large statistical samples of individual galaxies covering a large range of masses and sizes. Most predictions however rely on static models, and only a handful of N-body codes have been developed over the years to investigate the consequences of the Milgromian framework for the dynamics of complex evolving dynamical systems. In this work, we present a new Milgromian N-body code, which is a customized version of the RAMSES code (Teyssier 2002) and thus comes with all its features: it includes particles and gas dynamics, and importantly allows for high spatial resolution of complex systems due to the adaptive mesh refinement (AMR) technique. It further allows the direct comparison between Milgromian simulations and standard Newtonian simulations with dark matter particles. We provide basic tests of this customized code and demonstrate its performance by presenting N-body computations of dark-matter-free spherical equilibrium models as well as dark-matter-free disk galaxies in Milgromian dynamics.

  6. The PorGrow project: overall cross-national results, comparisons and implications.

    PubMed

    Millstone, E; Lobstein, T

    2007-05-01

    European policymakers need more information on policy responses to obesity that stakeholders judge effective and acceptable. The Policy Options for Responding to the Growing Challenge of Obesity Research Project gathered such intelligence by interviewing key stakeholder groups in nine countries. Interviews used an innovative multi-criteria mapping (MCM) methodology that gathers quantitative and qualitative information on the stakeholders' perceptions and judgements. Aggregating across all participants, a comprehensive portfolio of policy measures, integrated into a coherent programme, would be well-supported by broad coalitions of stakeholders. Those portfolios should include measures (i) to provide improved educations in schools and to the general adult population; (ii) measures to improve access to and incentives for physical activity; (iii) measures to improve information about both foods and physical activity and (iv) changes to the supply of and demand for foodstuffs. There was little support for fiscal measures and technological 'fixes'; they were judged ineffective and unacceptable. Significant differences were found across European regions, and across different stakeholder perspectives, but not across genders. There is a strong case for improved monitoring of body mass index levels, dietary habits and physical activity. An MCM study can effectively cover several countries, rather than being confined to just one, and generate both national and cross-national policy analyses and proposals.

  7. Conjunctival Melanoma: A New Clinical and Therapeutical Approach

    PubMed Central

    Rodríguez-Martín, M.; Rodríguez-Martín, J.; de Paz, N. Merino; Ferrer, P. Contreras; Cabrera, P. Rocha; Rodríguez Martín, B.; Gordillo Santana, G.; Martín-Herrera, A.; Noda-Cabrera, A.

    2010-01-01

    Melanoma involving the conjunctiva is extremely rare. Graver prognosis has been reported with primary conjunctival melanoma than with their cutaneous counterparts [Collin et al.: Aust N Z J Ophthalmol 1986;14:29–34]. Among conjunctival melanomas, two significant risk factors for tumour-related death have been identified: (i) age older than 55 years and (ii) unfavourable tumour location (caruncle, cornea, fornix, palpebral conjunctiva) [Werschnik and Lommatzsch: Am J Clin Oncol 2002;25:248–255]. Here we present a rare case of lentigo maligna involving the palpebral, bulbar conjunctiva and the caruncle. We describe dermoscopic patterns observed and the use of a novel ocular melanoma therapy with topical imiquimod. PMID:21076688

  8. Blepharophimosis syndrome with absent tear production.

    PubMed

    Ng, Jacqueline K; Stout, Ann U; Aaby, Aazy A; Ng, John D

    2015-01-01

    The purpose of this report was to present a case of congenital alacrima in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). A 9-month-old boy presented with characteristic clinical findings of BPES confirmed by genetic testing. On further history taking and evaluation, the patient was noted to have no tear production, despite clinically present palpebral lobes of the lacrimal glands. BPES is an autosomal dominant condition characterized by narrowed horizontal palpebral fissures, severe bilateral symmetric ptosis, epicanthus inversus, and telecanthus. To the authors' knowledge, this represents the second reported case of congenital alacrima in this syndrome. The first case described in the literature was in a 9-month-old girl who had congenital absence of the lacrimal glands. BPES may present with alacrima requiring vigilant lifelong lubrication and careful consideration in decisions for eyelid surgery including ptosis repair.

  9. Ocular findings in cytogenetic syndromes.

    PubMed

    Wilson, W A; Alfi, O S; Donnell, G N

    1979-06-01

    Several cytogenetic syndromes are reviewed, and the salient ocular and facial abnormalities that might lead to a diagnosis are pointed out. Examples are given of mongoloid slant to the palpebral fissures, not only in Down's syndrome, but also in monosomy 9p, where, in addition, the triangular skull is almost diagnostic. Antimongoloid slant is found in trisomy 9p, where the eyes also have enophthalmos of monosomy 9p. Hypertelorism is another common finding in these syndromes; in monosomy 5p it is almost always present, although it occurs in other conditions as well, including trisomy 12p. The ring 22 syndrome has a distinguishing finding called "doe's eyes" because of the shape of the palpebral fissures. Trisomy 13 has numerous ocular findings as well as skull and facial involvements.

  10. The first case of Niikawa-Kuroki syndrome in Kazakhstan associated with café au lait spots.

    PubMed

    Al Mosawi, A J; Fewin, L

    2009-10-01

    Niikawa-Kuroki syndrome (Kabuki syndrome) is a multiple congenital anomaly syndrome of unknown etiology with a very wide spectrum of abnormalities and severity. The aim of this paper was to report the first case of the syndrome in Kazakhstan associated café au lait. Five year and half old boy from Kazakhstan (Uzbek-of Turk ethnicity) presented with dysmorphic facial features (long palpebral fissures, a broad and depressed nasal tip, large prominent earlobes, small head, epicanthic folds short stature, delayed language development, hypotonia, bilateral developmental dysplasia of the hip (DDH), large ears and triangular chin, café au lait spots. The clinical diagnosis was based on the triad of characteristic facial abnormalities (long palpebral fissures, a broad and depressed nasal tip, large prominent earlobes, small head), growth retardation, (DDH). In this paper the authors report the first case of Kabuki syndrome associated with café au lait spots.

  11. Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case.

    PubMed

    Mari, Francesca; Giachino, Daniela; Russo, Lucia; Pilia, Giuseppe; Ariani, Francesca; Scala, Elisa; Chiappe, Francesca; Sampieri, Katia; Caporossi, Aldo; Renieri, Alessandra; Lasorella, Giacomo

    2006-06-01

    Blepharophimosis-ptosis-epicanthus inversus syndrome (OMIM #U10100) is a rare autosomal-dominant disorder in which an eyelid malformation is associated (type I) or not (type H) with premature ovarian failure in the affected female. It is invariably characterized by 4 major features: (1) bilaterally shortened horizontal palpebral fissure (blepharophimosis); (2) severe impairment of the superior palpebral levator (ptosis); (3) a vertical skin fold arising from the lower eyelid, which inserts medially in the upper lid (epicanthus inversus) and (4) an increased inner can-thal distance with a normal outer canthal distance (telecanthus). The mutations causing this disorder are found in the FOXL2 gene, a forkhead transcription factor, located in 3q23. Although many patients with blepharophimosis-ptosis-epicanthus inversus syndrome have an affected parent, a conspicuous number of sporadic cases also have been reported. We describe here a sporadic case with a mutation in the FOXL2 gene that was well characterized both clinically and molecularly.

  12. [Inveterate squamous cell carcinoma of the upper eyelid: a case report].

    PubMed

    Rinaldi, S; Marcasciano, M; Pacitti, F; Toscani, M; Tarallo, M; Fino, P; Scuderi, G L

    2013-01-01

    Squamous cell carcinoma (SCC) is a malignant tumor of epithelium that shows squamous cell differentiation. It is the second most common cancer of the skin and usually occurs in areas exposed to the sun but it can rarely arise within the conjunctival epithelium with a deep component. We describe a woman with a history of chronic blepharoconjunctivitis unresponsive to topical medications. Examination disclosed a hyperaemic translucent patch with blurred margins of the upper palpebral conjunctiva. Tarsoconjunctival biopsy revealed intraepithelial squamous cell carcinoma. Management consisted of complete tumor excision with removal of the entire posterior lamella of the left upper eyelid and reconstruction. Histopathologic analysis confirmed primary squamous cell carcinoma arising from conjunctival epithelium, involving the underlying tarsus. Patients with unexplained chronic unilateral blepharoconjunctivitis or papillary hypertrophy of the palpebral conjunctiva should be considered for biopsy to rule out neoplasia, even when there is no sign of an evident mass.

  13. Incremental nature of anterior eye grading scales determined by objective image analysis

    PubMed Central

    Wolffsohn, J S

    2004-01-01

    Aim: To use previously validated image analysis techniques to determine the incremental nature of printed subjective anterior eye grading scales. Methods: A purpose designed computer program was written to detect edges using a 3×3 kernal and to extract colour planes in the selected area of an image. Annunziato and Efron pictorial, and CCLRU and Vistakon-Synoptik photographic grades of bulbar hyperaemia, palpebral hyperaemia roughness, and corneal staining were analysed. Results: The increments of the grading scales were best described by a quadratic rather than a linear function. Edge detection and colour extraction image analysis for bulbar hyperaemia (r2 = 0.35−0.99), palpebral hyperaemia (r2 = 0.71−0.99), palpebral roughness (r2 = 0.30−0.94), and corneal staining (r2 = 0.57−0.99) correlated well with scale grades, although the increments varied in magnitude and direction between different scales. Repeated image analysis measures had a 95% confidence interval of between 0.02 (colour extraction) and 0.10 (edge detection) scale units (on a 0–4 scale). Conclusion: The printed grading scales were more sensitive for grading features of low severity, but grades were not comparable between grading scales. Palpebral hyperaemia and staining grading is complicated by the variable presentations possible. Image analysis techniques are 6–35 times more repeatable than subjective grading, with a sensitivity of 1.2–2.8% of the scale. PMID:15489489

  14. Macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) in two unrelated patients: delineation of a newly recognized overgrowth syndrome.

    PubMed

    Moretti-Ferreira, D; Koiffmann, C P; Listik, M; Setian, N; Wajntal, A

    1993-06-15

    We describe 2 unrelated patients, a boy and a girl, with an overgrowth syndrome and the following common characteristics: macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus), downward slant of palpebral fissures, mental retardation, and delayed bone maturation. Both cases are of sporadic occurrence with no consanguinity between the parents. We suggest that this syndrome is due to a new autosomal dominant mutation and propose to designate it with the acronym of "MOMO syndrome" (Macrosomia, Obesity, Macrocrania, Ocular anomalities.

  15. Dermatitis and keratoconjunctivitis caused by a prickly pear (Opuntia microdasys).

    PubMed

    Whiting, D A; Bristow, J H

    1975-08-16

    Two patients were affected by the barbed bristles of the ornamental cactus Opuntia microdasys, a small prickly pear plant. Dermatitis occurred in both patients and consisted of itchy papules produced by implantation of the glochids. One patient developed a severe keratoconjunctivitis in the right eye, which cleared after a glochid had been located in the palpebral conjunctiva, and removed. The glochids were studied under light and scanning electron microscopes and their structral details are described.

  16. Sebaceous gland carcinoma of the eyelid presenting as a conjunctival papilloma.

    PubMed

    Khong, Jwu Jin; Leibovitch, Igal; Selva, Dinesh; Dodd, Thomas; Muecke, James

    2005-04-01

    An unusual presentation of sebaceous carcinoma of the eyelid is described in a 96-year-old man who presented with a large papillomatous palpebral conjunctival lesion in the left upper eyelid. The patient underwent a shave excision of the lesion, followed by a full thickness excision with paraffin section margin control. Histopathology revealed a sebaceous gland carcinoma with no evidence of pagetoid spread. Although rare, sebaceous gland carcinoma should be considered in the differential diagnosis of a conjunctival papilloma.

  17. Aesthetic Lateral Canthoplasty Using Tarso-Conjunctival Advancement Technique.

    PubMed

    Lee, Eun Jung; Lew, Dae Hyun; Song, Seung Han; Lee, Myung Chul

    2017-01-01

    Reduced horizontal length of the palpebral fissure is a distinctive characteristic of Asian eyelids, and aesthetic lateral canthal lengthening techniques have been performed for a refinement. The aim of this study is to describe a novel lateral canthoplasty using tarso-conjunctival advancement with a lid margin splitting procedure on the upper eyelids and to report the postoperative results. From December 2011 to June 2014, patients who underwent lateral canthoplasty using the tarso-conjunctival advancement procedure for aesthetic purposes were reviewed retrospectively. The predictor variables were grouped into demographic and operative categories. The primary outcome variables were the distances from the mid-pupillary line to the lateral canthus and the horizontal length of the palpebral aperture (distance from the medial to lateral canthus). Data analyses were performed using descriptive and univariate statistics. Patients who showed increment in objective measurements were considered significant. Aesthetic appearance was also evaluated based on pre- and postoperative clinical photographs. A total of 45 patients were enrolled in this study. Both the distance from the mid-pupil to the lateral canthus (ΔDpupil-lateral; 2.78 ± 0.54 mm, P <0.05) and the palpebral aperture horizontal length (ΔDmedial-lateral 2.93 ± 0.81 mm, P <0.05) increased significantly from pre- to postoperative state. All the patients demonstrated satisfactory results aesthetically during the follow-up. The tarso-conjunctival advancement technique for lateral canthoplasty produced satisfactory aesthetic results with an enlarged palpebral aperture. Future research is required to fully delineate the risk of possible complications, including injury to the eyelashes and meibomian glands.

  18. Lip commissure to eyelid transposition for repair of feline eyelid agenesis.

    PubMed

    Whittaker, C J G; Wilkie, David A; Simpson, D J; Deykin, A; Smith, J S; Robinson, C L

    2010-05-01

    Repair of eyelid agenesis in nine eyes of five cats using a lip commissure to eyelid transposition is described. The procedure is a modification of the technique described by Pavletic for reconstruction of the canine inferior eyelid and provides skin, mucosa, a mucocutaneous junction, and muscle to reconstruct the superior and inferior eyelid and lateral canthus. The technique was successful in all eyes and resulted in improvement in corneal protection, cosmesis and in several cats a return of the palpebral reflex.

  19. Cosmetic Lateral Canthoplasty: Lateral Canthoplasty to Lengthen the Lateral Canthal Angle and Correct the Outer Tail of the Eye

    PubMed Central

    Yun, Byung Min

    2016-01-01

    There are many women who want larger and brighter eyes that will give a favorable impression. Surgical methods that make the eye larger and brighter include double eyelidplasty, epicanthoplasty, as well as lateral canthoplasty. Double eyelidplasty produces changes in the vertical dimension of the eyes, whereas epicanthoplasty and lateral canthoplasty create changes in the horizontal dimension of the eyes. Epicanthoplasty, a surgical procedure which enlarges the eye horizontally, is performed at the inner corner of the eye, whereas lateral canthoplasty enlarges the outer edge of the eye. In particular, if the slant of the palpebral fissure is raised and the horizontal dimension of the palpebral fissure is short, adjusting the slant of the palpebral fissure through lateral canthoplasty can achieve an enlargement of eye width and smoother features. Depending on the patient's condition, even better results can be achieved if this procedure is performed in conjunction with other procedures, such as double eyelidplasty, epicanthoplasty, eye roll formation surgery, fat graft, and facial bone contouring surgery. In this paper, the authors will introduce in detail their surgical method for a cosmetic lateral canthoplasty that lengthens the lateral canthal angle and corrects the outer tail of the eyes, in order to ease the unfavorable impression. PMID:27462564

  20. Que hay de nuevo acerca de la inmersion? Un Breve Recorrido por sus Fundamentos y por las Investigaciones Actuales (What's New in Immersion? A Brief Overview of Its Bases and Present-Day Research).

    ERIC Educational Resources Information Center

    Sierra, Josu

    This discussion briefly surveys the development of the immersion method of second language teaching, outlining the central program strategies and characteristics using Curtain's and Pesola's descriptions. An overview of recent research focuses on error correction and feedback studies as an example of pedagogical-methodological evolution in this…

  1. Padres Trabajando por la Paz: a randomized trial of a parent education intervention to prevent violence among middle school children.

    PubMed

    Murray, N G; Kelder, S H; Parcel, G S; Frankowski, R; Orpinas, P

    1999-06-01

    This paper reports the results of a randomized trial to test the effectiveness of a theoretically derived intervention designed to increase parental monitoring among Hispanic parents of middle school students. Role model story newsletters developed through the process of Intervention Mapping were mailed to half of a subsample of parents whose children participated in Students for Peace, a comprehensive violence prevention program. The results indicated that parents in the experimental condition (N = 38) who had lower social norms for monitoring at baseline reported higher norms after the intervention than the parents in the control condition (N = 39) (P = 0.009). Children of parents in the experimental group reported slightly higher levels of monitoring at follow-up across baseline values, whereas control children who reported moderate to high levels of monitoring at pre-test reported lower levels at follow-up (P = 0.04). These newsletters are a population-based strategy for intervention with parents that show some promise for comprehensive school-based interventions for youth.

  2. Distribución superficial de impactos en Iapetus originada por el remanente de una colisión

    NASA Astrophysics Data System (ADS)

    Zoppetti, F. A.; Leiva, A. M.; Briozzo, C. B.

    2015-08-01

    By means of Circular Restricted Three Body Problem Saturn--Iapetus, we analize potential impact distributions on the surface of Iapetus, originated from considering a low-energy population generated as remnants of a collisional event occurred in the past on the surface of this satellite. The results are analized in order to offer a new approach to explain the origin of the albedo dichotomy observed on Iapetus.

  3. Os Atores da Mobilizacao por Creches e Pre-Escolas Comunitarias (Mobilizing Agents for Nurseries and Infant Schools).

    ERIC Educational Resources Information Center

    Filgueiras, Cristina Almeida Cunha

    1995-01-01

    Discusses the role of community nurseries and preschools, within the context of Brazilian popular movements and social policy of the last 15 years. States that the experiences of these organizations reveal great complexity in terms of social, political, and pedagogic mobilization. Concludes that for all involved there are several levels of…

  4. Reconnaissance evaluation of Honduran geothermal sites. Una evaluacion por medio de reconocimiento de seis areas geotermicas en Honduras

    SciTech Connect

    Eppler, D.; Fakundiny, R.; Ritchie, A.

    1986-12-01

    Six geothermal spring sites were selected on the basis of preliminary investigations conducted in Honduras over the last decade and were evaluated in terms of their development potential. Of the six, the Platanares and San Ignacio sites have high base temperatures and high surface fluid discharge rates and appear to have the best potential for further development as sources of electrical power. A third site, Azacualpa, has a high enough base temperature and discharge rate to be considered as a back-up, but the logistical problems involved in geophysical surveys make it less attractive than the two primary sites. Of the remaining three sites, Pavana may be a source of direct-use heat for local agricultural processing. Sambo Creek and El Olivar have either severe logistical problems that would impede further investigation and development or base temperatures and flow rates that are too low to warrant detailed investigation at this time.

  5. La trama celeste: por qué educar en astronomía. Una oportunidad de aprendizajes múltiples

    NASA Astrophysics Data System (ADS)

    García, B.

    2016-08-01

    Astronomy education at all levels has been an issue addressed by the International Astronomical Union as part of its 2010--2020 plan. The content on astronomical topics are in the curriculum at primary and secondary levels worldwide. Being a cross-discipline, astronomy is also a science that allows to introduce students to the study of the nature in a non-confrontational way: no one is indifferent to their concepts and discoveries. The International Astronomical Union, through its Commission on Education and Development of Astronomy, has implemented, sponsored and carried out over the past five years two special programs, one about didactics of astronomy for teachers of middle level and another one for the transmission of astronomical topics for the disabled. In this presentation, achievements and impact of these programs are shared.

  6. Como ayudar a los padres a prevenir el envenenamiento por plomo (Helping Parents Prevent Lead Poisoning). ERIC Digest.

    ERIC Educational Resources Information Center

    Binns, Helen J.; Ricks, Omar Benton

    Children are at greater risk than adults for lead poisoning because children absorb lead more readily than adults, and a small amount of lead in children's bodies can do a great deal of harm. This Spanish-language Digest summarizes some of the causes and effects of childhood lead poisoning and suggests some lead poisoning prevention strategies…

  7. Relationship between hepatic phenotype and changes in gene expression in cytochrome P450 reductase (POR) null mice

    PubMed Central

    Wang, Xiu Jun; Chamberlain, Mark; Vassieva, Olga; Henderson, Colin J.; Wolf, C. Roland

    2005-01-01

    Cytochrome P450 reductase is the unique electron donor for microsomal cytochrome P450s; these enzymes play a major role in the metabolism of endogenous and xenobiotic compounds. In mice with a liver-specific deletion of cytochrome P450 reductase, hepatic cytochrome P450 activity is ablated, with consequent changes in bile acid and lipid homoeostasis. In order to gain insights into the metabolic changes resulting from this phenotype, we have analysed changes in hepatic mRNA expression using microarray analysis and real-time PCR. In parallel with the perturbations in bile acid levels, changes in the expression of key enzymes involved in cholesterol and lipid homoeostasis were observed in hepatic cytochrome P450 reductase null mice. This was characterized by a reduced expression of Cyp7b1, and elevation of Cyp7a1 and Cyp8b1 expression. The levels of mRNAs for other cytochrome P450 genes, including Cyp2b10, Cyp2c29, Cyp3a11 and Cyp3a16, were increased, demonstrating that endogenous factors play a role in regulating the expression of these proteins and that the increases are due, at least in part, to altered levels of transcripts. In addition, levels of mRNAs encoding genes involved in glycolysis and lipid transport were also increased; the latter may provide an explanation for the increased hepatic lipid content observed in the hepatic null mice. Serum testosterone and oestradiol levels were lowered, accompanied by significantly decreased expression of Hsd3b2 (3β-hydroxy-Δ5-steroid dehydrogenase-2), Hsd3b5 (3β-hydroxy-Δ5-steroid dehydrogenase-5) and Hsd11b1 (11β-hydroxysteroid dehydrogenase type 1), key enzymes in steroid hormone metabolism. These microarray data provide important insights into the control of metabolic pathways by the cytochrome system. PMID:15717863

  8. Perfiles de densidad de galaxias 3-D y segregación por tipo espectral en grupos de galaxias

    NASA Astrophysics Data System (ADS)

    Díaz, E.; Zandivarez, A.; Merchán, M. E.; Muriel, H.

    We have analysed the distribution of galaxies in groups identified in the largest redshift surveys available: the final release of the 2dF Galaxy Our work comprises the study of the galaxy density profiles and the fraction of galaxies per spectral type as a function of the group-centric distance. We have calculated the projected galaxy density profiles of groups using composite samples in order to increase the statistical significance of the results and we infer the 3-D galaxy density profiles using a deprojection method similar to the developed by Allen & Fabian. Special cares have been taken in order to avoid possible biases in the group identification and the construction of the projected galaxy density profile estimator due to the irregular sky coverage of the 2dF Galaxy Redshift Survey. We have adopted a generalized King profile to fit the obtained projected density profiles and use them to construct mock clusters and obtain the 3-D density profiles per spectral type. From the 3-D galaxy density profile we have estimated the 3-D fraction of galaxies per spectral type. Comparing with the fraction of galaxies computed using the projected profiles we observe a similar behavior of the galaxy spectral type segregation as the obtained by Domínguez et al. for groups in the early data release of the 2dF Galaxy Redshift Survey. As expected, the trends obtained for the 3-D galaxy fractions show steeper slopes.

  9. Monitoreo óptico de eta-Carina durante el pasaje por el periastro en 2014.6

    NASA Astrophysics Data System (ADS)

    Fernández-Lajús, E.; Salerno, N. E.; Scalia, M. C.; Ramos, X. S.; Giudici, F. N.; Gamen, R. C.

    2015-08-01

    We present the H light curves resulting from the 2013 and 2014 observing seasons of Car as well as its spectral evolution, including the latest ``event'' occurred in mid-2014. The direct CCD observations were made with the telescope ``VS Niemela'' the Observatory of La Plata, and spectroscopic observations were made with the telescope ``J. Sahade'' of Casleo, Argentina.

  10. Evaluacion de que consister y por que se lleva acabo? (Evaluation: What Does it Consist of, and for What Purpose?).

    ERIC Educational Resources Information Center

    Austin Independent School District, TX. Office of Research and Evaluation.

    A guide is presented for the evaluation of the bilingual programs in the Austin, Texas, Independent School District. The reasons for an evaluation and a definition of program objectives and evaluation instruments are given. The program components, objectives and evaluation instruments for each grade level (K-4) are listed. The components involved…

  11. En otras palabras: Perfeccionamiento del espanol por medio de la traduccion (In Other Words: Perfecting Spanish Language Skills through Translation).

    ERIC Educational Resources Information Center

    Lunn, Patricia V.; Lunsford, Ernest J.

    This publication, written primarily in Spanish, is an activity book designed to teach Spanish through translation based on the theory that, in order to produce an acceptable translation, students must focus their attention on lexical and grammatical detail. The book combines incisive grammar explanations, relevant lexical information, and a wide…

  12. [Infusional therapy: an alternative for shouder pain post-laparoscopy].

    PubMed

    Ureña-Frausto, Cielo Alborada; Plancarte-Sánchez, Ricardo; Reyes-Torres, Juan Ignacio; Ramírez-Aranda, José Manuel

    2013-01-01

    Antecedentes: en cirugía laparoscópica del hemiabdomen superior la anestesia neuroaxial disminuye la morbilidad y mortalidad perioperatorias; sin embargo, el dolor de hombro es una afección frecuente de difícil control. Puesto que los fármacos opioides mayores (fentanilo) para el control del dolor deprimen la función respiratoria, consideramos que la terapia infusional es un tratamiento seguro y eficaz. Objetivo: comparar diversos esquemas analgésicos para el control del dolor de hombro secundario al neumoperitoneo. Material y método: ensayo clínico no aleatorizado, efectuado en 56 pacientes ASA I-II en cuatro grupos con colecistectomía laparoscópica. El grupo I (n= 15) se trató con ketorolaco 1 mg/kg, el grupo II (n= 12) con ketoprofeno 100 mg, el grupo III (n= 14) con ketoprofeno 50 mg más tramadol 50 mg, y el grupo IV (n= 15) con ketoprofeno 100 mg más tramadol 100 mg. Las variables analizadas fueron: dolor y su intensidad, analgesia de rescate y tiempo quirúrgico. Resultados: en el grupo I hubo más episodios de dolor de hombro que en el resto de los grupos (p= 0.002); el grupo IV requirió menos analgesia de rescate (p= 0.034). Conclusión: la analgesia preventiva con terapia infusional con ketoprofeno-tramadol, a dosis de 100 mg, es segura para pacientes intervenidos mediante cirugía laparoscópica.

  13. THE GRADED LEVATOR HINGE PROCEDURE FOR THE CORRECTION OF UPPER EYELID RETRACTION (AN AMERICAN OPHTHALMOLOGICAL SOCIETY THESIS)

    PubMed Central

    Schaefer, Daniel P.

    2007-01-01

    Purpose Many surgical techniques have been developed to address eyelid retraction with varying results. Identifying and evaluating the anatomical and pathophysiological factors involved will assist in its surgical treatment. This prospective study evaluated the graded levator hinge procedure, in combination with a Müllerectomy and/or lateral canthoplasty when indicated, in an attempt to precisely and selectively target the pathophysiology responsible for the various causes of eyelid retraction in only one surgical session. Methods This is a clinical, prospective study of patients with moderate to severe eyelid retraction due to various causes who underwent the graded levator hinge procedure, in combination with a Müllerectomy and/or lateral canthoplasty when indicated. The exact amount of hinging of the levator aponeurosis, and combination with a Müllerectomy and/or lateral canthoplasty, was determined by the clinical operative findings with active cooperation from the conscious patient. Results Thirty-two consecutive patients (48 eyelids) with varying degrees of upper eyelid retraction underwent the graded levator hinge procedure in combination with a Müllerectomy and or lateral canthoplasty when indicated. The mean (± standard deviation) preoperative palpebral vertical fissure height was 12.4 mm (± 0.45 mm), and the mean postoperative palpebral fissure height was 9.0 mm (±0.20 mm). The mean preoperative asymmetry in the palpebral fissure height was 2.41 (± 0.29) mm, and the mean postoperative asymmetry was 0.59 mm (± 0.09), and this difference was statistically significant (P <.001). The mean reduction in the palpebral fissure height was 4.6 mm (± 0.29 mm) (range, 1–10 mm). The graded levator hinge procedure in combination with a Müllerectomy and or lateral canthoplasty when indicated, led to a statistically significant (P <.001) reduction in mean palpebral fissure height for all patients, the bilateral subset of patients, the unilateral subset of

  14. Non-Invasive Detection of Anaemia Using Digital Photographs of the Conjunctiva

    PubMed Central

    Collings, Shaun; Thompson, Oliver; Hirst, Evan; Goossens, Louise; George, Anup; Weinkove, Robert

    2016-01-01

    Background and Aims Anaemia is a major health burden worldwide. Although the finding of conjunctival pallor on clinical examination is associated with anaemia, inter-observer variability is high, and definitive diagnosis of anaemia requires a blood sample. We aimed to detect anaemia by quantifying conjunctival pallor using digital photographs taken with a consumer camera and a popular smartphone. Our goal was to develop a non-invasive screening test for anaemia. Patients and Methods The conjunctivae of haemato-oncology in- and outpatients were photographed in ambient lighting using a digital camera (Panasonic DMC-LX5), and the internal rear-facing camera of a smartphone (Apple iPhone 5S) alongside an in-frame calibration card. Following image calibration, conjunctival erythema index (EI) was calculated and correlated with laboratory-measured haemoglobin concentration. Three clinicians independently evaluated each image for conjunctival pallor. Results Conjunctival EI was reproducible between images (average coefficient of variation 2.96%). EI of the palpebral conjunctiva correlated more strongly with haemoglobin concentration than that of the forniceal conjunctiva. Using the compact camera, palpebral conjunctival EI had a sensitivity of 93% and 57% and specificity of 78% and 83% for detection of anaemia (haemoglobin < 110 g/L) in training and internal validation sets, respectively. Similar results were found using the iPhone camera, though the EI cut-off value differed. Conjunctival EI analysis compared favourably with clinician assessment, with a higher positive likelihood ratio for prediction of anaemia. Conclusions Erythema index of the palpebral conjunctiva calculated from images taken with a compact camera or mobile phone correlates with haemoglobin and compares favourably to clinician assessment for prediction of anaemia. If confirmed in further series, this technique may be useful for the non-invasive screening for anaemia. PMID:27070544

  15. Subconjunctival injection of triamcinolone for the treatment of upper lid retraction associated with thyroid eye disease.

    PubMed

    Lee, Jong Mi; Lee, Hwa; Park, Minsoo; Baek, Sehyun

    2012-11-01

    Management of retraction of the upper lid during the congestive phase of thyroid eye disease is usually limited to conservative treatment. We evaluated the efficacy of subconjunctival injection of triamcinolone for the treatment of the upper lid retraction associated with thyroid eye disease.Thirty patients (43 eyes, 11 men and 19 women) with the upper lid retraction associated with thyroid eye disease were evaluated between May 2009 and September 2010. A dose of 0.5 mL of triamcinolone acetonide (40 mg/mL) was injected into the subconjunctival space at the upper margin of the tarsus. If the upper lid retraction had not improved or was still severe 2 weeks after the initial injection, then triamcinolone was injected repeatedly at 2-week intervals. Photographs were taken before the injection and at the follow-up visit, and lid parameters including marginal reflex distance 1, interpalpebral fissure height, total palpebral fissure area, the upper nasal palpebral fissure area, and the upper temporal palpebral fissure area were measured. Changes in the lid parameters after the injection were evaluated.The mean number of injections per patient was 2.67, and the mean (SD) follow-up period was 260.97 (91.10) days. All lid parameters improved significantly after the triamcinolone injection (all P's < 0.05). Nineteen of 22 patients in the congestive phase responded to the triamcinolone injection; however, 6 of 8 patients in the fibrotic phase did not respond to the triamcinolone injection. Complications associated with the triamcinolone injection included an increased intraocular pressure (2 patients) and a mild ptosis (1 patient).The subconjunctival triamcinolone injection is a simple and effective treatment option for the upper lid retraction associated with thyroid eye disease, and this treatment is more effective for the patients in the congestive phase.

  16. Proximal trisomy 1q in a girl with developmental delay and minor anomalies

    SciTech Connect

    Furforo, L. |; Rittler, M.; Slavutsky, I.R.

    1996-09-06

    We report on a girl with developmental delay, macrocephaly, facial asymmetry, small downturned palpebral fissures, high and narrow palate, micrognathia, short neck, a heart defect, and unilateral renal agenesis. Cytogenetic analysis showed a proximal tandem duplication of the long arm of chromosome one (1q12{r_arrow}q21.3). This abnormality was suggested by G-and C-banding but it was specifically characterized by fluorescent in situ hybridization (FISH). Clinical findings in our patient are compared with those of the literature in an attempt to delineate the phenotype in patients with proximal 1q duplication. 12 refs., 4 figs., 1 tab.

  17. Interstitial deletion 6q16.2q22.2 in a child with ectrodactyly.

    PubMed

    Correa-Cerro, L; Garcíaz-Cruz, D; Díaz-Castaños, L; Figuera, L E; Sanchez-Corona, J

    1996-01-01

    A boy of 16 months of age with psychomotor retardation, short stature, microbrachycephaly, triangular face, microphthalmia, palpebral fissures slanted downward, cardiopathy, simian crease on left hand, agenesis of fourth finger on the right hand and of the nail in the second finger on the right one was studied. The karyotype showed a complement of 46, XY, del(6) (q16.2q22.2). The clinical and cytogenetic analysis with other previous cases described in the literature led us to identificate other patients with ectrodactyly. Therefore as other authors we suggest the possible localization of gene(s) that could have involvement with the development of extremities in this segment.

  18. Treacher Collins Syndrome

    PubMed Central

    Chang, Christopher C.; Steinbacher, Derek M.

    2012-01-01

    Treacher Collins syndrome is a genetic disorder resulting in congenital craniofacial malformation. Patients typically present with downslanting palpebral fissures, lower eyelid colobomas, microtia, and malar and mandibular hypoplasia. This autosomal dominant disorder has a variable degree of phenotypic expression, and patients have no associated developmental delay or neurologic disease. Care for these patients requires a multidisciplinary team from birth through adulthood. Proper planning, counseling and surgical techniques are essential for optimizing patient outcomes. Here the authors review the features, genetics, and treatment of Treacher Collins syndrome. PMID:23633935

  19. Multiple Ocular and Systemic Disorders in Association with Bilateral Duane's Retraction Syndrome

    PubMed Central

    Zare, Mohammad Ali; Akbari, Mohammad Reza; Kiarudi, Mohammad Yaser; Mehrjardi, Hadi Zare

    2016-01-01

    Duane's retraction syndrome (DRS) is characterized by limitations in horizontal eye movements, globe retraction, and palpebral fissure narrowing on attempted adduction. This disorder is caused by a disturbance in innervation originating in the brain stem and represents <1% of all cases of strabismus. It is postulated that this syndrome is due to an insult during the early weeks (8–10 weeks) of pregnancy and is 10–20 times more frequently associated with other systemic congenital anomalies. This case report of bilateral DRS included bilateral iris-retinal coloboma and congenital heart disease, sensory hearing loss, and inguinal hernia. PMID:27555711

  20. Severe hypertelorism, midface prominence, prominent/simple ears, severe myopia, borderline intelligence, and bone fragility in two brothers: new syndrome?

    PubMed

    Hamamy, Hanan A; Teebi, Ahmad S; Oudjhane, Kamaldine; Shegem, N N; Ajlouni, K M

    2007-02-01

    We report on two brothers, born to double first cousin Jordanian Arab parents, with a syndrome comprising severe hypertelorism with upslanted palpebral fissures, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures. Both have severe myopia, mild to moderate sensori-neural hearing loss and borderline intelligence. Results of chromosome analysis were normal as was a FISH assay for subtelomeric rearrangements. The father has mild hypertelorism but the family history is otherwise unremarkable. We think that this represents a previously unrecognized autosomal or X-linked recessive syndrome.

  1. Rubinstein-Taybi syndrome with agenesis of corpus callosum.

    PubMed

    Mishra, Shubhankar; Agarwalla, Sunil Kumar; Potpalle, Dnyaneshwar Ramesh; Dash, Nishant Nilotpal

    2015-01-01

    Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder with characteristic morphological anomaly. Our patient was a 4.5-year-old girl came with features like broad thumbs, downward slanting palpebral fissures and mental retardation. Systemic abnormalities such as repeated infection, seizure with developmental delay were also associated with it. She was having head banging behavior abnormal slurring speech, incoordination while transferring things from one hand to other. Galaxy of clinical pictures and magnetic resonance imaging report helped to clinch the diagnosis as a case of "RSTS with corpus callosal agenesis" which to the best of our knowledge has never been reported in past from India.

  2. Necrobiotic xanthogranuloma successfully treated with autologous stem cell transplantation.

    PubMed

    Goede, Jeroen S; Misselwitz, Benjamin; Taverna, Christian; Schanz, Urs; Dispenzieri, Angela; Hummel, Yvonne; Trüeb, Ralph M; Fehr, Jörg

    2007-04-01

    Paraproteinemia can be complicated by necrobiotic xanthogranuloma. Therapeutic options for this progressive disease are limited, and there is no agreement on a single best strategy. We report the case of a patient with a massive periorbital infiltration narrowing the palpebral fissure and blinding the patient. Conventional myeloma therapy had only limited benefit in our patient. However, he was successfully treated with high-dose chemotherapy followed by autologous stem cell transplantation, rendering the patient free of symptoms. This is the first report of autologous stem cell transplantation in a patient with necrobiotic xanthogranuloma.

  3. Cosmetic Lateral Canthoplasty: Preserving the Lateral Canthal Angle

    PubMed Central

    Lee, Kyu Ho; Choi, Hong Lim; Jeong, Eui Cheol

    2016-01-01

    Cosmetic lateral canthoplasty, in which the size of the eye is increased by extending the palpebral fissure and decreasing the degree of the eye slant, has become a prevalent procedure for East Asians. However, it is not uncommon for there to be complications or unfavorable results after the surgery. With this in mind, the authors have designed a surgical method to reduce complications in cosmetic lateral canthoplasty by preserving the lateral canthal angle. We discuss here the anatomy required for surgery, the surgical methods, and methods for reducing complications during cosmetic lateral canthoplasty. PMID:27462563

  4. A rare localization of pure dermoid cyst in the frontal bone.

    PubMed

    Splendiani, Alessandra; Bruno, Federico; Mariani, Silvia; La Marra, Alice; Capretti, Ilaria; Di Cesare, Ernesto; Masciocchi, Carlo

    2016-04-01

    We report the case of an 84-year-old woman who came to our attention with right palpebral edema associated with pain in the omolateral fronto-orbital region. The patient underwent an MRI scan that revealed a rounded, extracerebral intradiploic cystic lesion with dyshomogeneous signal intensity. Computed tomography (CT) imaging was also performed with reformatted 3D reconstruction. Post-surgical histologic analysis confirmed the diagnosis of intradiploic dermoid cyst. We here report the case and discuss epidemiology, imaging features and work-up of this pathological entity.

  5. Cat-eye syndrome with isolated idiopathic hypogonadotropic hypogonadism.

    PubMed

    Matsumoto, Ryusuke; Shimizu, Chikara; Nagai, So; Taniguchi, Satoshi; Umetsu, Masaaki; Kimura, Yasunori; Atsumi, Toshiya; Yoshioka, Narihito; Kubo, Mitsumasa; Koike, Takao

    2005-10-01

    A 34-year-old Japanese man diagnosed as having cat-eye syndrome (CES) with isolated idiopathic hypogonadotropic hypogonadism (IHH) was treated at our university. He showed preauricular pits/tags, downward slanting palpebral fissures, ocular hypertelorism, and strabismus. However, ocular coloboma and anal atresia, major characteristic features of CES, were negative. Chromosomal analysis revealed malformation in chromosome 22 and eunuchoid features and a low grade development of secondary sexual characteristics were also evident. Endocrinological examinations revealed that this patient was in a state of isolated IHH. Although CES with IHH is extremely rare, endocrine disorders should be given due attention.

  6. Pseudo-Duane's retraction syndrome.

    PubMed Central

    Duane, T D; Schatz, N J; Caputo, A R

    1976-01-01

    Five patients presented with signs that were similar to but opposite from Duane's retraction syndrome. Most had a history of orbital trauma. On attempted abduction a narrowing of the palpebral fissure and retraction of the globe was observed. Diplopia with lateral gaze was present. Roentgenograms (polytomograms) showed involvement of the medial orbital wall. Forced ductuin tests were positive. Surgical repair of the fracture and release of the entrapped muscle as determined by forced duction tests and by postoperative motility led to successful results. Images FIGURE 1 A FIGURE 1 B FIGURE 2 FIGURE 3 PMID:867622

  7. Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype.

    PubMed

    Guion-Almeida, M L; Richieri-Costa, A

    2001-04-01

    We report a Brazilian boy, born to normal and nonconsanguineous parents showing, among other signs, brachycephaly, a wide forehead, a widow's peak, hypertelorism, wide palpebral fissures with multiple eyelid colobomas, a broad nasal root, a long philtrum, macrostomia, prominent lips, a high arched palate, a midline alveolar cleft, a small and grooved chin, ear anomalies, structural anomaly of the corpus callosum, and mental retardation. To our knowledge this additional patient defines a particular clinical condition previously reported [Guion-Almeida M.L. Richieri-Costa A. (1999) Clinical Dysmorphol 8;1-4; Masuno M. et al. (2000) Clin Dysmorphol 9:59-60].

  8. Treatment of bilateral corneal ulceration in a Peregrine Falcon (Falco peregrinus) using 360 degree conjunctival flaps.

    PubMed

    Park, F J; Gill, J H

    2005-09-01

    A wild Peregrine Falcon (Falco peregrinus) was presented with extensive bilateral fluorescein positive corneal damage. Local therapy and bilateral tarsorrhaphies resulted in slow improvement over 5 weeks. When bilateral 360 degree conjunctival flaps were used subsequently, healing proceeded more rapidly over the next 8 weeks. Although bulbar conjunctival flaps have been reported as difficult in birds due to their small size and relatively immobile bulbar conjunctiva, 360 degree conjunctival flaps made from palpebral rather than bulbar conjunctiva were found to be technically feasible in a larger bird species such as the Peregrine Falcon.

  9. Cutaneous scar at anterior hair line in mother and child with associated frontal bone defect in child.

    PubMed

    Stratis, J P; Ramer, J C; Manders, E K; Lehman, R A; Ladda, R L

    1992-09-15

    A large frontal bone defect underlying a "V" shaped scar was noted in a newborn male whose mother had an identical "V" shaped scar at the same location in the anterior hairline. Both had hypertelorism and short palpebral fissures. The mother had no radiographic evidence of skull defect and neither mother nor child had other cutaneous or skeletal anomalies. Cranioplasty was performed on the child using the remaining frontal bones with an excellent cosmetic result. Biopsy performed at operation documented scar tissue extending through the dermis and underlain by thickened dura. Mother and child appear to have a variant form of aplasia cutis congenita, an autosomal dominant trait with wide variation in expression.

  10. Hunter-McAlpine craniosynostosis phenotype associated with skeletal anomalies and interstitial deletion of chromosome 17q

    SciTech Connect

    Thomas, J.A.; Manchester, D.K.; Prescott, K.E.; Milner, R.; McGavran, L.; Cohen, M.M. Jr. |

    1996-04-24

    Hunter-McAlpine syndrome is an autosomal dominant disorder consisting of variable manifestations including craniosynostosis, almond-shaped palpebral fissures, small mouth, mild acral-skeletal anomalies, short stature, and mental deficiency. We report on a 9-year-old boy with this phenotype with more severe skeletal abnormalities than previously described. Chromosomes showed del(17)(q23.1{r_arrow}q24.2); the more severe phenotype may be explained by the deletion. The deletion also suggests the possibility that the gene for Hunter-McAlpine syndrome might map to that region. 8 refs., 5 figs., 2 tabs.

  11. SED-brachydactyly and distinctive speech: report of two new cases.

    PubMed

    García-Cruz, D; Zafra de la Rosa, G F; Sánchez-Corona, J; Nazará, Z; López-Cardona, M G; García-Ortiz, J E; Corona-Rivera, J R; Cantú, J M

    2007-01-01

    We describe two unrelated patients and the mother of one of them showing clinical and radiological features as those previously described in the spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS, also named Fantasy Island syndrome or Tattoo dysplasia) clinically characterized by short stature with acral shortness, distinctive face, mild blepharophimosis, upslanted palpebral fissures, abundant eyebrows and eyelashes, thick and abundant hair and coarse voice; and radiologically by brachymetacarpalia, brachymetatarsalia and brachyphalangia of all fingers and toes, short and broad long bones with normal morphology and small pelvis. The clinical and radiological features present in mother and son suggest a probable autosomal dominant mode of inheritance and variable expressivity.

  12. Exuberant epibulbar tumor penetrating into the orbit in xeroderma pigmentosum.

    PubMed

    Călugăru, M; Bârsu, M

    1992-01-01

    The clinical and histopathological findings are described in a 10-year-old girl with xeroderma pigmentosum and multiple ophthalmic complications, including the eyelids, conjunctiva, orbit, cornea and iris; some of these complications took an unusual form. Histological examination following right orbital exenteration revealed an epibulbar squamous cell carcinoma penetrating the orbit and building a noose all around the ocular globe with subsequent strangulation. Moreover, a palpebral squamous cell carcinoma developed-independently from the right lower lid and, unconnected with the epibulbar tumor, penetrated to the orbit.

  13. Exuberant epibulbar tumor penetrating into the orbit in xeroderma pigmentosum.

    PubMed

    Calugaru, M; Barsu, M

    1992-01-01

    The clinical and histopathological findings are described in a 10-year-old girl with xeroderma pigmentosum and multiple ophthalmic complications, including the eyelids, conjunctiva, orbit, cornea and iris; some of these complications took an unusual form. Histological examination following right orbital exenteration revealed an epibulbar squamous cell carcinoma penetrating the orbit and building a noose all around the ocular globe with subsequent strangulation. Moreover, a palpebral squamous cell carcinoma developed independently from the right lower lid and, unconnected with the epibulbar tumor, penetrated to the orbit.

  14. [Cicatricial conjunctivitis].

    PubMed

    Gueudry, J; Vera, L; Muraine, M

    2010-10-01

    Cicatricial conjunctivitis is chronic conjunctivitis with conjunctival fibrosis and may lead to alterations of conjunctival architecture, which are potentially sight-threatening. The patient's medical history, physical exam, and laboratory tests often provide the diagnosis of the underlying disease. Causes of conjunctival cicatrization are autoimmune diseases such as ocular cicatricial pemphigoid, thermal and chemical burns, postinfectious conjunctivitis, Stevens-Johnson syndrome, etc. Medical management varies according to specific causes and may lead to severe side effects. Furthermore, strategies may be necessary to restore corneal transparency and normal palpebral architecture.

  15. CHARGE association in a child with de novo inverted duplication (14) (q22{r_arrow}q24.3)

    SciTech Connect

    North, K.N.; Wu, Bai Lin; Cao, B.N.

    1995-07-17

    We report on a 4-{1/2} year old girl with apparent CHARGE association who had a de novo inverted duplication (14) (q22{r_arrow}24.3), iris colobomas, ventricular septal defect, soft tissue choanal atresia, intellectual impairment, growth retardation, sensorineural deafness, apparently low set ears, and upslanting palpebral fissures. Family history was unremarkable and parental chromosomes were normal. Similarities between this and previously reported cases of 14q duplication suggest that a locus for a gene or genes causing some of the anomalies of CHARGE association may reside in the region 14q22 to 24.3. 26 refs., 2 figs., 1 tab.

  16. Smith-Magenis Syndrome: Face Speaks.

    PubMed

    Gupta, Rekha; Gupta, Neerja; Nampoothiri, Sheela; Mandal, Kausik; Kishore, Yougal; Sharma, Pankaj; Kabra, Madhulika; Phadke, Shubha R

    2016-06-01

    Smith-Magenis syndrome is a well delineated microdeletion syndrome with characteristic facial and behavioral phenotype. With the availability of the multi-targeted molecular cytogenetic techniques like Multiplex Ligation Probe Amplification and cytogenetic microarray, the cases are diagnosed even without clinical suspicion. Here, the authors present clinical features of nine Indian cases of Smith-Magenis syndrome. Characteristic facial phenotype including tented upper lip, broad forehead, midface hypoplasia, short philtrum and upslant of palpebral fissure is obvious in the photographs. The behavioral variations were seen in some of the cases but were not the presenting features. The characteristic facial phenotype can be an important clinical guide to the diagnosis.

  17. The effects of the porous buffer layer and doping with dysprosium on internal stresses in the GaInP:Dy/por-GaAs/GaAs(100) heterostructures

    SciTech Connect

    Seredin, P. V.; Gordienko, N. N.; Glotov, A. V.; Zhurbina, I. A.; Domashevskaya, E. P.; Arsent'ev, I. N. Shishkov, M. V.

    2009-08-15

    In structures with a porous buffer layer, residual internal stresses caused by a mismatch between the crystal-lattice parameters of the epitaxial GaInP alloy and the GaAs substrate are redistributed to the porous layer that acts as a buffer and is conducive to disappearance of internal stresses. Doping of the epitaxial layer with dysprosium exerts a similar effect on the internal stresses in the film-substrate structure.

  18. Communicating with Mexican Americans: Por Su Buena Salud = Communicando Con Mexico Americanos: For Their Good Health. Proceedings of the Conference (Houston, TX, September 13-14, 1979).

    ERIC Educational Resources Information Center

    Moore, Thomas J., Ed.; And Others

    The conference focused on the role of the Mexican American's cultural language, tradition, life style, health practices, and media utilization in the design of effective health education and information programs. Representing various local, state, and national health, education, and media organizations, the 108 participants attended sessions on…

  19. Unanswered Questions in Colombia's Foreign Language Education Policy (Preguntas por responder en la política educativa de lenguas extranjeras en Colombia)

    ERIC Educational Resources Information Center

    Bonilla Carvajal, Camilo Andrés; Tejada-Sánchez, Isabel

    2016-01-01

    Following the trend of much of the Western, non-English speaking world, Colombia has tirelessly strived for spreading English education in an effort to augment economic benefits. This paper aims at providing a critical account of foreign language education policy in Colombia, with special attention to English. It outlines the impact of its…

  20. Ameiridae Boeck and Argestidae Por revisited, with establishment of Parameiropsidae, a new family of Harpacticoida (Crustacea, Copepoda) from deep-sea sediments

    NASA Astrophysics Data System (ADS)

    Corgosinho, P. H. C.; Martínez Arbizu, P.

    2010-09-01

    Four new species of Parameiropsis are described from Angola and Guinea Basins and the Arctic Laptev Sea. The male of Parameiropsis poseidonicus sp. n. differs from that of P. neptuni sp. n. and P. senckenbergi sp. n. in antennule segmentation, length of the proximal aesthetasc, length of the outermost seta of the antennary endopod, degree of reduction of the mouthparts, relative length of the inner spine of the basis of thoracopod 1, shape of the furca and body length. The female of P. amphitriteae sp. n. differs from previously described females of other species in the smaller exopod and endpod of thoracopod 1, reduced armature of thoracopods 1-6, length of the outer setae of exopods and endopods of thoracopods 2-4, and mandible exopod weakly developed and fused to the basis. Parameiropsis is redefined by the following autapomorphies: presence of aesthetasc on 3rd segment of female antennule; antenna strong, with endopod curved upwardly, and shape of the outermost (strongly ornamented) spine; triangular labrum; elongated corpus mandibularis, gnathobasis very long; basis of mandibular palp unarmed; elongated maxillule, with long and flexible setae on praecoxal arthrite; basis of the maxilla with strongly modified claw. To discuss the phylogenetic position of Parameiropsis, we revaluated the subfamilies of Ameiridae (viz. Ameirinae and Stenocopiinae) and the family Argestidae. Anoplosomella and Malacopsyllus revealed to be not closely related to Ameiridae and are transferred to Argestidae, sharing with other members of this family the morphology of the mandible gnathobasis, armature of maxilla and armature and length of the first segment of the antennule. Argestoides prehensilis does not show any of the characters that we consider autapomorphic for Argestidae. Instead, it shows many characters in common with several Ameiridae species. Parameiropsis does not have any character that could justify its inclusion within Ameiridae or even within Podogennonta. It also cannot be included satisfactorily within Argestidae nor Exanechentera. Therefore, we here propose a new family for Parameiropsis, with unclear relationships within Harpacticoida. After these taxonomic rearrangements, Ameiridae and Argestidae are considered monophyletic based on certain maxilla characters that we consider autapomorphic for each group. A key to the identification of the known species of Parameiropsis is added at the end.

  1. Diseño, Construcción Y Desarrollo De Un Sistema Limitado Por Difracción Para Telescopios Terrestres: Fastcam

    NASA Astrophysics Data System (ADS)

    Lopez Lopez, Roberto

    2013-02-01

    This work describes the concept, design, development, evolution and application of the FastCam instrument. FastCam is an image photometer for astronomy with image capture in a high-frequency range and diraction limited, in order to apply the Lucky Imaging technique to medium- and large-sized ( 1.5 to 4 m) telescopes. The Lucky Imaging technique allows, for ground-based telescopes, to achieve the resolution limit for astronomical images under suitable conditions. This work describes the atmospheric problems and the active and adaptive optics techniques to solve them, as well as the Lucky Imaging fundamentals. A description of the considerations to the project development and design parameters is performed. Then, the optical design and dierent adaptations to several telescopes will be revised. In a next step, some of the scientic results obtained thanks to this project are shown, both in position astronomy and complex structures in globular cluster and binary systems. Dierent designs arising from the basic idea and the instruments now in development that are expanding the system's capabilities and the technique are explained. Some other possible applications to other elds in which the image sharpness is necessary despite uctuations or instabilities of the observing system will be also pointed out: ophthalmology, video-control, etc.

  2. Un Programa de Espanol para Colegio Universitario: Esfuerzos por Lograr una Mejor Articulacion (A Spanish Program for Colleges and Universities: Efforts to Improve Articulation).

    ERIC Educational Resources Information Center

    Latoja, Luis E.

    1996-01-01

    Describes a three-year plan for colleges and universities in which the Spanish program attempts to increase its course offerings and improve articulation within the institution. The program is designed to put into practice the goals of a regional collaborative project on articulation of which the university is an integral part. (six references)…

  3. "¿Por qué leemos esto en la clase de español?": The Politics of Teaching Literature in Spanglish

    ERIC Educational Resources Information Center

    Postma, Regan L.

    2013-01-01

    This article discusses what is at stake in teaching works written in "Spanglish" in Spanish departments and what teaching such works might mean for students and the scholarly community at large. This article primarily comes out of the author's experiences teaching "Spanglish" works in Spanish courses at a major research…

  4. Library Safari: Tips for Parents of Young Readers and Explorers = De safari por la biblioteca: Consejos para padres de lectores y exploradores jovenes.

    ERIC Educational Resources Information Center

    Clements, Aedin

    Visiting the library is a great way for parents to encourage their child's imagination and learning. It gives parents the opportunity to model good reading behavior and to show their child that they value books and reading. No matter how young the child is, a trip to the library can be an enjoyable outing for parents and their children. Most…

  5. Study of morphological characteristic of por-Si formed using metal-assisted chemical etching by BET-method and fractal geometry

    NASA Astrophysics Data System (ADS)

    Boyko, Anton N.; Pyatilova, Olga V.; Kalmykov, Rustam M.; Gaev, Dahir S.; Timoshenkov, Sergei P.; Gavrilov, Sergei A.

    2016-12-01

    Study of new materials and composites based on porous silicon is of great interest for electronics and microelectronics industry. Functional characteristics of structured layers are closely associated with their morphology properties and treatment conditions correspondently. In this work a porous silicon layers formed by metal-assisted chemical etching (MACE) with the use of gas adsorption-desorption method, scanning electron microscopy (SEM) and fractal geometry have been examined. Specific surface area given by multi-point BET method was about of 7 m2/g and 13 m2/g for n-Si and p-Si specimens correspondently. Surface fractal dimension Ds was estimated for p-type mesoporous silicon from BET results using Neimark's thermodynamic approach, the value is Ds=2.86. "Slit islands" Mandelbrot's algorithm was applied for analysis of SEM images and calculations of surface fractal dimension Ds, computation gives Ds = 2.52 for n-Si sample and Ds = 2.84 for p-Si sample. The study testified the fractal nature of porous layers formed by MACE and exhibits correlation between different methods of fractal dimension estimation. The results can be applied for improvement of methods of structured solids characterization.

  6. Realidades Suburbanas: Latinos en el Condado de Dakota. Una Investigacion Dirigida por HACER = Suburban Realities: Latinos in Dakota County. A Study Conducted by HACER.

    ERIC Educational Resources Information Center

    HACER: Hispanic Advocacy and Community Empowerment through Research, Minneapolis, MN.

    A research project was conducted between April and December of 1998 to learn about the experiences of the sizable numbers of Latinos who live in Dakota County (Minnesota). This diverse group was studied through examining existing demographic information, conducting interviews with 45 Latino and Anglo individuals, and conducting several focus…

  7. Efectos de Campos Magnéticos en las Tasas de Consumo de Madera por Coptotermes formosanus, la Termita Subterránea de Formosa.

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Sixty groups of 500 workers and 50 soldiers of Coptotermes formosanus were maintained in costume designed containers and fed with a piece of red oak wood (Quercus rubra). Twenty of these groups were exposed to permanent magnets with a flux of 800 G. Another 20 groups were exposed to a permanent mag...

  8. Comparacion de modelos de Educacion Sexual en el conocimiento y cambio de actitudes en practicas sexuales por alumnos de nivel superior en la region de Caguas, Puerto Rico

    NASA Astrophysics Data System (ADS)

    Juan, Vallejo Ramos L.

    In opposition to the Sexual Education Traditional Model (SETM) that is used in the state schools of Puerto Rico, the Health Beliefs Model (HBM) appears. It facilitates a curricular design that improves the ability of the students to respond to the group pressure by means of attitudes that stimulate sexual conducts of smaller risk of propagation of the Sexually Transmitted Diseases (STD). In addition, it provides activities to increase the self-esteem, the communication and the decision making. This investigation had the intention to compare the SETM and the HBM in the increase of knowledge and change of attitudes of high risk of propagation of the STD using a validated questionnaire (Agency of the United States for the International-USAID Development), named "Endesa 2007" and, adapted to Puerto Rico by the Dra.Marta Collazo to a sample of students between the 17 and 19 years of 2 state schools of San Lorenzo, as a pretest, and, selected by convenience. Then, a 10 hours training was administered to half of the students using the SETM to STD and condom use lessons. The other half of the students received additional lessons using the HBM. Finally, both groups took the questionnaire again as a posttest. The sample of students, in average, did not reach the knowledge and basic levels of attitudes towards the STD in the pretest. This reflected 2 possible implications on the SETM. In first place, that the way in which the STD is implemented as part of the Sexual Education curriculum is inefficient. Secondly, the possibility that the acquired information or attitudes does not have permanence. Culminated the questionnaire, the HBM increase the knowledge of the STD in 0.41 points (average) over the SETM. There was not a significant difference between both models, in attitudes, implying that both models are equally effective. The findings suggests that the HBM is more effective increasing the knowledge on the STD, but equally effective than the SETM in attitude change for the Puerto Rican youth.

  9. The HoMBReS and HoMBReS Por un Cambio Interventions to Reduce HIV Disparities Among Immigrant Hispanic/Latino Men.

    PubMed

    Rhodes, Scott D; Leichliter, Jami S; Sun, Christina J; Bloom, Fred R

    2016-02-12

    Hispanics/Latinos in the United States are affected disproportionately by human immunodeficiency virus (HIV) infection, acquired immunodeficiency syndrome (AIDS), and other sexually transmitted diseases (STDs); however, few effective evidence-based prevention interventions for this population exist. This report describes the Hombres Manteniendo Bienestar y Relaciones Saludables (Men Maintaining Wellbeing and Healthy Relationships) (HoMBReS) intervention, which was developed by a community-based, participatory research partnership in North Carolina and initially implemented during 2005-2009. HoMBReS is an example of an effective intervention that uses lay health advisors (known as Navegantes [navigators]) in the context of existing social networks (i.e., recreational soccer teams) to promote consistent condom use and HIV and STD testing among Hispanic/Latino men. In 2012, HoMBReS was classified as a best-evidence community-level HIV prevention intervention (CDC. Compendium of evidence-based behavioral interventions and best practices for HIV prevention. Atlanta, GA: US Department of Health and Human Services, CDC; 2015). The intervention has been implemented elsewhere, enhanced, and further evaluated in longitudinal intervention and implementation studies. HoMBReS has been adapted for other populations, including men who have sex with men and transgender persons. Additional evaluation has found that Navegantes continue in their roles as health advisors, opinion leaders, and community advocates after study support ends. Hispanic/Latino men's social networks can be leveraged to promote sexual health within the community by decreasing HIV risk behaviors among Hispanics/Latinos in the United States.

  10. The HoMBReS and HoMBReS Por un Cambio Interventions to Reduce HIV Disparities Among Immigrant Hispanic/Latino Men

    PubMed Central

    Rhodes, Scott D.; Leichliter, Jami S.; Sun, Christina J.; Bloom, Fred R.

    2016-01-01

    Summary Hispanics/Latinos in the United States are affected disproportionately by human immunodeficiency virus (HIV) infection, acquired immunodeficiency syndrome (AIDS), and other sexually transmitted diseases (STDs); however, few effective evidence-based prevention interventions for this population exist. This report describes the Hombres Manteniendo Bienestar y Relaciones Saludables (Men Maintaining Wellbeing and Healthy Relationships) (HoMBReS) intervention, which was developed by a community-based, participatory research partnership in North Carolina and initially implemented during 2005–2009. HoMBReS is an example of an effective intervention that uses lay health advisors (known as Navegantes [navigators]) in the context of existing social networks (i.e., recreational soccer teams) to promote consistent condom use and HIV and STD testing among Hispanic/Latino men. In 2012, HoMBReS was classified as a best-evidence community-level HIV prevention intervention (CDC. Compendium of evidence-based behavioral interventions and best practices for HIV prevention. Atlanta, GA: US Department of Health and Human Services, CDC; 2015). The intervention has been implemented elsewhere, enhanced, and further evaluated in longitudinal intervention and implementation studies. HoMBReS has been adapted for other populations, including men who have sex with men and transgender persons. Additional evaluation has found that Navegantes continue in their roles as health advisors, opinion leaders, and community advocates after study support ends. Hispanic/Latino men’s social networks can be leveraged to promote sexual health within the community by decreasing HIV risk behaviors among Hispanics/Latinos in the United States. PMID:26916740

  11. "Pig in a poke (gato por liebre)": the "mota" (Calophysus macropterus) fishery, molecular evidence of commercialization in Colombia and toxicological analyses.

    PubMed

    Salinas, Cristian; Cubillos, Juan Camilo; Gómez, Rigoberto; Trujillo, Fernando; Caballero, Susana

    2014-06-01

    Overfishing has affected the population abundance trends of many commercial fish species. In the Amazon, the fishery of a catfish commonly known as "mota" or "piracatinga" (Calophysus macropterus) has become an important economic activity in the region as this species has replaced a number of other overexploited great catfish species in the markets. Due to this high exploitation, ways in which to increase captures have been identified. One strategy is to use decomposing animal carcasses as bait. Such strategy has increased the hunting pressure on endangered species such as caimans and river dolphins. We investigated which catfish species are currently commercialized in Colombian fish markets using DNA barcoding, and measured mercury concentration in the tissues of fish molecularly identified as C. macropterus. We collected 86 fish samples in markets of four Colombian cities. Sixty-eight of these were identified molecularly as C.macropterus. The mercury concentration of 29 such samples was analyzed. Samples presented total Hg concentrations higher than the limit for human consumption established by the WHO (0.5 μg/g). These results are worrisome and suggest that (1) C. macropterus is a widely used fish species for human consumption in Colombia and (2) C. macropterus has high concentrations of total Hg, making its consumption a public health risk. Results presented here suggest that C. macropterus has replaced capaz in most Colombian markets. This fishery threatens wild species of river dolphins and caimans, and is also a public health risk given the high mercury levels we found in a subsample of these fishes.

  12. Comparacion de Modelos de Educacion Sexual en El Conocimiento y Cambio de Actitudes en Practicas Sexuales por Alumnos de Nivel Superior en La Region De Caguas, Puerto Rico

    ERIC Educational Resources Information Center

    Juan, Vallejo Ramos L.

    2012-01-01

    In opposition to the Sexual Education Traditional Model (SETM) that is used in the state schools of Puerto Rico, the Health Beliefs Model (HBM) appears. It facilitates a curricular design that improves the ability of the students to respond to the group pressure by means of attitudes that stimulate sexual conducts of smaller risk of propagation of…

  13. (2,3,7,8,12,13,17,18-Octa­ethyl­por­phin­ato)(trifluoro­methane­sulfonato)iron(III)

    PubMed Central

    Xu, Nan; Powell, Douglas R.; Richter-Addo, George B.

    2008-01-01

    The title compound, [Fe(CF3O3S)(C36H44N4)], is an iron(III) porphyrin complex with the trifluoro­methane­sulfonate anion as an axial ligand. The Fe atom is displaced by 0.219 (2) Å toward the trifluoro­methane­sulfonate anion from the 24-atom mean plane of the porphyrin, resulting in a distorted FeN4O square-based pyramidal geometry. One ethyl­ene group is disordered over two orientations in a 0.502 (6):0.498 (6) ratio. PMID:21580825

  14. The Department of Defense’s Transition of Program of Record (POR) Systems from Internet Protocol Version Four (IPv4) to Internet Protocol Version Six (IPv6)

    DTIC Science & Technology

    2006-12-01

    Protocol IA Information Assurance IANA Internet Assigned Numbers Authority ICANN Internet Corporation for Assigned Names and Numbers ICE... ICANN ) is responsible for the global coordination of the Internet’s system of unique identifiers. Unique identifies include domain names like .org...or .museum, and country codes such as .UK .IE. Any new RIR shall, on recognition by ICANN receive an IPv6 allocation from the IANA. A RIR is

  15. Blepharoplasty techniques in the management of orbito-temporal neurofibromatosis.

    PubMed

    Li, Jin; Lin, Ming; Shao, Chunyi; Ge, Shengfang; Fan, Xianqun

    2014-11-01

    We aimed to present blepharoplasty techniques we used for severe orbito-temporal neurofibromatosis (NF). A retrospective noncomparative single-center case study was undertaken on patients with orbito-temporal NF. Twenty-two patients with orbito-temporal NF treated at the Department of Ophthalmology of Shanghai Ninth People's Hospital between 2007 and 2011 participated in the study. They underwent a standard ophthalmologic assessment for orbito-temporal NF involving both the orbito-temporal soft tissue and bony orbits. The orbits were examined with three-dimensional computed tomography (CT) and all 22 patients underwent tumor debulking, blepharoplasty, and orbital reconstruction. We modified the conventional procedures. Our reconstructive techniques included eyelid reduction; lateral canthal reattachment; for patients with collapse of the lateral orbital margin, reconstruction of the orbital margin to be performed before reattaching the lateral canthus to the implanted titanium mesh; anterior levator resection; and frontalis suspension according to preoperative levator muscle function. Visual acuity, tumor recurrence, and postoperative palpebral fissure and orbital appearance were evaluated to assess outcomes. Acceptable cosmetic results were obtained in 22 patients after debulking of the orbito-temporal NF and surgical reconstruction. There was no loss of vision or visual impairment postoperatively. All patients did not display recrudescence after a follow-up period of >1 year. Three patients with residual ptosis were successfully treated with a second ptosis repair. We believe that the blepharoplasty techniques described in the treatment of orbito-palpebral NF may provide both functional and esthetic benefits.

  16. A new evaluation of heat distribution on facial skin surface by infrared thermography

    PubMed Central

    Brioschi, Marcos L; Baladi, Marina G; Arita, Emiko S

    2016-01-01

    Objective: The aim of this study was to identify the facial areas defined by thermal gradient, in individuals compatible with the pattern of normality, and to quantify and describe them anatomically. Methods: The sample consisted of 161 volunteers, of both genders, aged between 26 and 84 years (63 ± 15 years). Results: The results demonstrated that the thermal gradient areas suggested for the study were present in at least 95% of the thermograms evaluated and that there is significant difference in temperature between the genders, racial group and variables “odontalgia”, “dental prothesis” and “history of migraine” (p < 0.05). Moreover, there was no statistically significant difference in the absolute temperatures between ages, and right and left sides of the face, in individuals compatible with the pattern of normality (ΔT = 0.11°C). Conclusions: The authors concluded that according to the suggested areas of thermal gradients, these were present in at least 95% of all the thermograms evaluated, and the areas of high intensity found in the face were medial palpebral commissure, labial commissure, temporal, supratrochlear and external acoustic meatus, whereas the points of low intensity were inferior labial, lateral palpebral commissure and nasolabial. PMID:26891669

  17. Orbital soft tissue surgery for patients with Treacher-Collins or Nager syndrome. A new surgical approach with early correction of soft tissue: prospective study.

    PubMed

    Franchi, G; Kadlub, N; Diner, P A; Bandini, M; Vazquez, M-P; Picard, A

    2015-05-01

    Orbitopalpebral anomalies in mandibulofacial dysostosis (Treacher-Collins syndrome) can be difficult to correct surgically and most authors recommend correction of the malar bone after the age of 8 years. We propose a new, early surgical approach for periorbital defects that involves initial implantation of autologous fat and subperiosteal malar lift with a pedicled upper eyelid flap. We prospectively studied 5 children, 3 of whom had previously had orbital reconstruction. Initial fat graft into the periorbital area was followed by a subperiosteal malar lift with lateral canthopexy, and a pedicled upper eyelid flap if needed. Two surgeons independently assessed the patients' characteristics including scleral show before and after operation, antimongoloid palpebral fissures, canthal dystopia, number 6 cleft (Tessier classification), skin quality, and surgical and ophthalmic complications. Before operation 3 patients had had ophthalmic problems. Postoperative evaluation showed improvements in scleral show, canthal dystopia, and skin quality, and correction of antimongoloid palpebral fissures and subcutaneous number 6 clefts. There were no postoperative complications. The proposed protocol gave satisfactory aesthetic and functional results in children with Treacher-Collins syndrome. We recommend that it is considered for periorbital reconstruction in all patients with a mandibulofacial deformity.

  18. Ocular involvement in pemphigus vulgaris.

    PubMed

    Akhyani, Maryam; Keshtkar-Jafari, Alireza; Chams-Davatchi, Cheyda; Lajevardi, Vahide; Beigi, Sara; Aghazadeh, Nessa; Rayati Damavandi, Maede; Arami, Shabnam

    2014-07-01

    Pemphigus vulgaris (PV) is an autoimmune disorder affecting the skin and mucous membranes. Ocular involvement in PV has been reported but its prevalence and clinical characteristics are not well defined. This prospective cross-sectional study of 103 PV patients was designed to determine the prevalence, clinical types and epidemiological trends of ocular involvement in a population of Iranian patients with PV. Ocular involvement was present in 17 (16.5%) patients. Conjunctivitis was the most prevalent type of ocular involvement (9/17, 52.9%), followed by erosion of the palpebral conjunctiva (7/17, 41.2%). Erosion of the bulbar conjunctiva was noted in only one patient (5.9%). The most commonly reported symptoms were eye irritation (76.5%) and redness (76.5%). No significant relation was found between ocular involvement and disease activity (partial remission or relapse). Mucoid discharge was significantly more common in patients with conjunctival erosions as compared to patients with conjunctivitis (P = 0.038). We conclude that ocular involvement is not rare in PV; 16.5% of PV patients develop ocular disease independent of the disease activity and extension. Conjunctivitis is the most common type of involvement, however, palpebral conjunctival erosion is more frequent than previously realized.

  19. Acupuncture for the Treatment of Oculomotor Paralysis: A Pilot Randomised Controlled Trial

    PubMed Central

    Bi, Jia-Qi; Li, Wei; Yang, Qi; Li, Bao-lin; Meng, Qing-Gang; Liu, Yu-fu

    2016-01-01

    This study consisted of a single centre randomised controlled trial with two parallel arms: an acupuncture group (n = 20) with 27 affected eyes and a sham group (n = 20) with 23 affected eyes. Participants in the acupuncture group received acupuncture treatment once daily, three times weekly for four weeks. Participants assigned to the control group received sham acupuncture, the same protocol as that used for the acupuncture group but without insertion of needles into the skin. The primary outcome measure was the cervical range of motion (CROM) score. Secondary outcome measures were the palpebral fissure size, response rate, and adverse events. All 40 participants completed the study. In the comparison of acupuncture and sham acupuncture, a significant difference was observed between acupuncture and sham acupuncture in CROM score (21.37 ± 15.16 and 32.21 ± 19.54, resp.) (P < 0.05) and palpebral fissure size (7.19 ± 2.94 and 5.41 ± 2.45, resp.) (P < 0.05). Response rate was also significantly different in the acupuncture group (P < 0.05). No adverse events were reported in both groups in this study. In summary, it was demonstrated that acupuncture had a feasibility positive effect on oculomotor paralysis. PMID:27313646

  20. Ethanol-induced face-brain dysmorphology patterns are correlative and exposure-stage dependent.

    PubMed

    Lipinski, Robert J; Hammond, Peter; O'Leary-Moore, Shonagh K; Ament, Jacob J; Pecevich, Stephen J; Jiang, Yi; Budin, Francois; Parnell, Scott E; Suttie, Michael; Godin, Elizabeth A; Everson, Joshua L; Dehart, Deborah B; Oguz, Ipek; Holloway, Hunter T; Styner, Martin A; Johnson, G Allan; Sulik, Kathleen K

    2012-01-01

    Prenatal ethanol exposure is the leading preventable cause of congenital mental disability. Whereas a diagnosis of fetal alcohol syndrome (FAS) requires identification of a specific pattern of craniofacial dysmorphology, most individuals with behavioral and neurological sequelae of heavy prenatal ethanol exposure do not exhibit these defining facial characteristics. Here, a novel integration of MRI and dense surface modeling-based shape analysis was applied to characterize concurrent face-brain phenotypes in C57Bl/6J fetuses exposed to ethanol on gestational day (GD)7 or GD8.5. The facial phenotype resulting from ethanol exposure depended upon stage of insult and was predictive of unique patterns of corresponding brain abnormalities. Ethanol exposure on GD7 produced a constellation of dysmorphic facial features characteristic of human FAS, including severe midfacial hypoplasia, shortening of the palpebral fissures, an elongated upper lip, and deficient philtrum. In contrast, ethanol exposure on GD8.5 caused mild midfacial hypoplasia and palpebral fissure shortening, a shortened upper lip, and a preserved philtrum. These distinct, stage-specific facial phenotypes were associated with unique volumetric and shape abnormalities of the septal region, pituitary, and olfactory bulbs. By demonstrating that early prenatal ethanol exposure can cause more than one temporally-specific pattern of defects, these findings illustrate the need for an expansion of current diagnostic criteria to better capture the full range of facial and brain dysmorphology in fetal alcohol spectrum disorders.

  1. Liquid Nitrogen Cryotherapy for Surface Eye Disease (An AOS Thesis)

    PubMed Central

    Fraunfelder, Frederick Web

    2008-01-01

    Purpose To evaluate the effects of new treatments with liquid nitrogen cryotherapy on some external eye conditions. Methods In this retrospective case study, 6 separate series from a single tertiary care referral center practice are described. Liquid nitrogen cryotherapy was used to treat conjunctival amyloidosis, primary pterygia, recurrent pterygia, advancing wavelike epitheliopathy (AWLE), superior limbic keratoconjunctivitis (SLK), and palpebral vernal keratoconjunctivitis (VKC). The main outcome measure was the resolution of the disease process after treatment. Results Four patients with primary localized conjunctival amyloidosis were treated with liquid nitrogen cryotherapy. Two of them had recurrence of the amyloidosis, which cleared with subsequent treatment. Eighteen patients with primary pterygia had excision and cryotherapy with 1 recurrence. Of 6 subjects who presented with recurrent pterygia, 4 had a second recurrence after excision and cryotherapy. In 5 patients with AWLE, the condition resolved within 2 weeks without recurrence or the need for subsequent cryotherapy. Four patients with SLK were treated with liquid nitrogen cryotherapy. Disease recurred in 2 patients and 3 of 7 eyes, although subsequent cryotherapy eradicated SLK in all cases. Two patients and 3 eyelids with palpebral VKC were treated with liquid nitrogen cryotherapy. VKC recurred in all cases. Conclusions Liquid nitrogen cryotherapy to the surface of the eye is effective in treating AWLE, and SLK. Excision followed by cryotherapy is successful in treating conjunctival amyloidosis and primary pterygia Liquid nitrogen cryotherapy is unsuccessful in the treatment of recurrent pterygia and VKC. PMID:19277243

  2. Pleomorphic Adenoma of the Eyelid with Apocrine Gland Origin; an Atypical Location

    PubMed Central

    Rothwell, Renata T.; Campelos, Sofia B.; Prazeres, Sandra

    2016-01-01

    Purpose: To describe the clinical presentation and treatment of a patient with a cutaneous pleomorphic adenoma of the eyelid. Case Report: A 73-year-old male patient presented with a nodular mass on the lateral third of his right upper eyelid, which had slowly enlarged over 10 years. Radiologic features were of an extra-conical mass, with no invasion of adjacent structures. An excisional biopsy of the lesion was performed. The histopathological examination revealed a biphasic tumor, composed of tubules with a double layer of epithelial cells arranged in a chondromyxoid stroma. The inner epithelial cells were positive for pancytokeratins AE1/AE3 and carcinoembryonic antigen. The outer epithelial cells and stromal component expressed vimentin and S100 protein. These pathologic findings were consistent with a palpebral pleomorphic adenoma, with an apocrine gland origin. Conclusion: Pleomorphic adenomas of the skin are rare tumors, and even less frequent as tumors of the ocular adnexa. These lesions should be considered in the differential diagnosis of palpebral nodular masses, and complete excision should be attempted due to the possibility of malignant transformation. PMID:27994815

  3. Ocular and systemic characteristics of Duane syndrome.

    PubMed

    Shauly, Y; Weissman, A; Meyer, E

    1993-01-01

    The clinical features of 63 patients with Duane syndrome are described in this report. All data in the study were gathered retrospectively except for measurements of vertical palpebral fissure and axial eye length, which were investigated prospectively. The following new aspects of the syndrome are emphasized: 1) In most cases with heterotropia, the angle of deviation was not large (< or = 25 prism diopters). 2) Visual acuity of 0.66 (20/30) or better was recorded in 94% of the affected eyes. 3) Smaller palpebral fissure (by 1 mm or more) of the affected eye was measured in primary position among 9 of 40 (22%) unilateral cases. 4) The axial length of the affected eye (mean, 22.8 +/- 0.6 mm) was not significantly different from the uninvolved eye. 5) Two cases of heterochromia iridis (3.2%) were found among the Duane syndrome patients. 6) A 4.8% prevalence of high-tone hearing loss was detected, in addition to 4.8% of sensorineural deafness.

  4. Double eyelid blepharoplasty incorporating epicanthoplasty using Y-V advancement procedure.

    PubMed

    Li, F C; Ma, L H

    2008-08-01

    Ethnic characteristics of the Asian upper eyelid include the lack of a superior palpebral fold, excessive fat, laxity of pretarsal skin, and medial epicanthal fold. Historically, these features have characterised a unique beauty in Asians. With the increase of cultural exchange, the sense of beauty has changed greatly among Asians and most Asians regard eyes with double eyelids as beautiful. Therefore, surgical creation of a superior palpebral fold (so-called double eyelidplasty) has become the most common cosmetic operation in Asia. However, the presence of an epicanthal fold weakens the aesthetic results of the operation. The size of the epicanthal fold in Asians, whilst varying widely among individuals, is usually relatively small, and thus aesthetically successful effacement rarely requires more complex procedures as performed in the West. The incision for epicanthoplasty should therefore be as simple as possible and be confined to the eyelid area. From October 2001 to May 2006, Y-V advancement procedure for epicanthoplasty was used in combination with double eyelid surgery in 92 cases. Most of the patients attained satisfactory results. There were few complications in our series. A hypertrophic scar was recorded in three early cases and faded within 2 to 3 months with satisfactory results. This procedure is simple and more suitable for people of oriental origin.

  5. Tear-film lipid layer morphology and corneal sensation in the development of blinking in neonates and infants

    PubMed Central

    Lawrenson, John G; Birhah, Rosalind; Murphy, Paul J

    2005-01-01

    The aim of the study was to evaluate the role of lipid layer thickness and corneal sensation in the development of blinking in neonates. The study group comprised sixty-four neonates and infants (mean age 27.5 ± 15 (sd) weeks, range 3.4–52) whose mothers were attending a general practice healthy baby clinic. Spontaneous eye-blink activity was determined from digital videographic recordings; tear film lipid layer morphology wasexamined using interference patterns produced by the Keeler Tearscope™ Plus over a five-point grading scale (higher grades are associated with thick and stable lipid films); corneal sensation threshold was assessed with the Non-Contact Corneal Aesthesiometer (NCCA), using the eye-blink response as an objective indication that the cooling stimulus had been felt; palpebral aperture dimensions were measured using calibrated digital still images of the eye in the primary position. The overall mean spontaneous blink-rate was found to be 3.6 (± 0.3) blinks min−1, and the mean interblink time was 21.6 (± 2.8) s. The lowest blink-rates were observed in the 0–17-week age group (average 2 blinks min−1). The blink-rate showed a highly significant correlation with age (r = 0.46, P < 0.01). The overall mean lipid layer grading was 3.6 (± 0.2 SE) arbitrary units. Higher grades were found in the newborn and the mean grading score reduced with age (P < 0.01). The mean sensation threshold to blink (TTB) was 0.69 (0.04 SE) mbar, which did not differ from a control group of older subjects (P > 0.05). There was a rapid increase in palpebral aperture length and width from birth to 1 year old, with surface area increasing by 50% over the same period. We concluded that the low rate of spontaneous eye blink activity in neonates is associated with a thick stable lipid layer that may be a function of a small palpebral aperture. Furthermore, neonates appear to have the capacity to detect ocular surface cooling, which is a major trigger for spontaneous

  6. A novel species of Euspondylus (Squamata: Gymnophthalmidae) from the Andes Mountains of central Peru.

    PubMed

    Doan, Tiffany M; Adams, Grant

    2015-10-21

    The South American gymnophthalmid genus Euspondylus is distributed from Venezuela through Peru, with its highest diversity occurring in Peru. Euspondylus paxcorpus sp. nov. is a new species from Junín, Peru possessing prefrontal scales and represented by 60 specimens. The new species differs from all other species by the combination of four supraoculars with supraocular/supraciliary fusion, 5-7 occipitals, a single palpebral scale, five supralabials and infralabials, quadrangular dorsal scales with low keels arranged in transverse series only, 40-45 in a longitudinal count and 22-28 in a transverse count, 12 rows of ventrals in a transverse count and 23-25 in a longitudinal count, and no sexual dimorphism in coloration. The discovery of E. paxcorpus increases the known number of Euspondylus species to 13. Because the coloration patterns of the specimens were greatly different after preservation in alcohol, caution should be used when identifying Euspondylus species from museum specimens.

  7. Clinical features of trisomy 12 mosaicism-Report and review.

    PubMed

    Hong, Bo; Zunich, Janice; Openshaw, Amanda; M Toydemir, Reha

    2017-03-27

    Trisomy 12 mosaicism is a rare condition. Herein, we report a patient with mosaic trisomy 12 who was conceived by in vitro fertilization. She presented with mild dysmorphic features at birth, including down-slanting palpebral fissures, a depressed and creased nasal bridge, and mild rhizomelic shortening of the limbs. She had age-appropriate development at 6 months of age, but displayed slightly more dysmorphic features than at birth. Chromosome analysis on peripheral blood revealed a normal female karyotype in 50 metaphases. A concurrent genomic microarray analysis showed trisomy 12 in about 25% of the specimen, which was also confirmed by fluorescence in situ hybridization analysis with the CEP12 probe. Our findings further delineate the clinical features in trisomy 12 mosaicism in liveborns and demonstrate the utility of genomic microarray analysis in identification of mosaic aneuploidies.

  8. Kohlschütter-Tönz Syndrome – Report of an additional case

    PubMed Central

    González-Arriagada, Wilfredo A.; Carlos-Bregni, Román; Contreras, Elisa; Almeida, Oslei P.

    2013-01-01

    Kohlschütter-Tönz Syndrome is a rare disorder clinically characterized by amelogenesis imperfecta, epilepsy and progressive mental deterioration. We present an additional case of this syndrome of a nine year-old boy who was referred by pigmented teeth. The mental deterioration was associated with speech delay, impulsive behavior, attention-deficit/hyperactivity disorder, and learning problems. The physical examination revealed a reduction of lower third, slightly palpebral fissures, low ear and hair implantation, coarse hair and hypertrichosis. The intraoral examination showed alteration in teeth pigmentation diagnosed as amelogenesis imperfecta. Although rare, the present case report illustrates a syndrome that has dental anomalies and systemic alterations. It is important to recognize this syndrome as early as possible and paediatric dentist may contribute to the diagnosis and consequently to better manage the patients. Key words:Kohlschütter-Tönz syndrome, amelogenesis imperfecta, seizures, mental deterioration. PMID:24455057

  9. Cutaneous zygomycosis.

    PubMed

    Bonifaz, Alexandro; Vázquez-González, Denisse; Tirado-Sánchez, Andrés; Ponce-Olivera, Rosa María

    2012-01-01

    Cutaneous zygomycosis is a fungal infection caused by zygomycetes that affects the skin. It occurs in uncontrolled diabetic patients and immunosuppressed individuals. It has 2 clinical forms: primary cutaneous zygomycosis and secondary cutaneous zygomycosis. The first is characterized by necrotic lesions and the fungus is usually inoculated by trauma. If diagnosed early, it generally has a good prognosis. Secondary zygomycosis is usually a complication and extension of the rhinocerebral variety that starts as a palpebral fistula and progresses to a necrotic lesion with a poor prognosis. The diagnosis is made by identification of the fungus by direct KOH examination, culture, and biopsy. Treatment for the primary disease is surgical debridement plus amphotericin B. The secondary type is treated with amphotericin B and/or posaconazole.

  10. Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): A clue to the pathogenesis of oncocytic cardiomyopathy?

    SciTech Connect

    Bird, L.M.; Krous, H.F.; Eichenfield, L.F.; Swalwell, C.I.; Jones, M.C.

    1994-11-01

    A infant girl had red stellate skin lesions on the cheeks and neck, and mildly short palpebral fissures. Her skin abnormality was typical of microphthalmia with linear skin defects (MLS), a newly recognized syndrome consisting of congenital linear skin defects and ocular abnormalities in females monosomic for Xp22. She died suddenly and unexpectedly at age 4 months; the cause of death was ascribed to oncocytic cardiomyopathy. Oncocytic cardiomyopathy occurs only in young children, who present with refractory arrhythmias leading to cardiac arrest. The coexistence of two rare conditions, one of which is mapped to the X chromosome, and an excess of affected females with oncocytic cardiomyopathy is also X-linked, with Xp22 being a candidate region. Overlapping manifestations in the two conditions (ocular abnormalities in cases of oncocytic cardiomyopathy and arrhythmias in MLS) offer additional support for this hypothesis. 43 refs., 2 figs., 2 tabs.

  11. Ocular findings in a newborn with cri du chat syndrome.

    PubMed

    Schechter, R J

    1978-03-01

    A deletion of the short arm of chromosome No. 5 has been termed the cri du chat (cat cry) syndrome. We report the first ophthalmologic examination of a newborn infant with this syndrome. Multiple ophthalmic abnormalities were found, including hypertelorism, telecanthus, epicanthal folds, antimongoloid palpebral fissures, exotropia, optic atrophy, and tortuosity of the retinal vasculature. It is of interest that these changes are congenital and present at birth, rather than developmental. Although such individuals are usually so severely mentally retarded that no ophthalmologic intervention is indicated, there are rare exceptions, and each case must be judged individually. Ten percent to 15% of these children inherit the chromosomal abnormality from phenotypically normal parents. Chromosomes from each parent should therefore be evaluated for the purposes of genetic counseling.

  12. A 45,XX,-5,-14,+t(5q;14q)mat cri du chat child.

    PubMed

    Bass, H N; Sparkes, R S; Crandall, B F; Galos, K J; Howard, J

    1978-03-01

    A two-year-old girl has the following features of the cri du chat syndrome: microcephaly, hypertelorism, downward slanting of the palpebral fissures, psychomotor retardation and a cat-like cry. She is only of five patients having the cat cry syndrome with 45 chromosomes. Her karyotype is 45,XX, -5, -14, +t(5; 14)(5qter leads to 5p11: : 14q11 leads to 14qter) with the translocation inherited from her mother and maternal grandmother, each of whom is the carrier of a balanced translocation 46,XX,t(5;14)(p11q11). Normal plasma activity for hexosaminidase B suggests the locus for this enzyme is not located in the delected segment of 5 p.

  13. The TFOS International Workshop on Contact Lens Discomfort: report of the subcommittee on neurobiology.

    PubMed

    Stapleton, Fiona; Marfurt, Carl; Golebiowski, Blanka; Rosenblatt, Mark; Bereiter, David; Begley, Carolyn; Dartt, Darlene; Gallar, Juana; Belmonte, Carlos; Hamrah, Pedram; Willcox, Mark

    2013-10-18

    This report characterizes the neurobiology of the ocular surface and highlights relevant mechanisms that may underpin contact lens-related discomfort. While there is limited evidence for the mechanisms involved in contact lens-related discomfort, neurobiological mechanisms in dry eye disease, the inflammatory pathway, the effect of hyperosmolarity on ocular surface nociceptors, and subsequent sensory processing of ocular pain and discomfort have been at least partly elucidated and are presented herein to provide insight in this new arena. The stimulus to the ocular surface from a contact lens is likely to be complex and multifactorial, including components of osmolarity, solution effects, desiccation, thermal effects, inflammation, friction, and mechanical stimulation. Sensory input will arise from stimulation of the lid margin, palpebral and bulbar conjunctiva, and the cornea.

  14. Interstitial duplication of proximal 22q: Phenotypic overlap with cat eye syndrome

    SciTech Connect

    Knoll, J.H.M.; Asamoah, A.; Wagstaff, J.

    1995-01-16

    We describe a child with downslanting palpebral fissures, preauricular malfunctions, congenital heart defect (total anomalous pulmonary venous return), unilateral absence of a kidney, and developmental delay with an apparent interstitial duplication of proximal 22q. Fluorescent in situ hybridization (FISH) analysis showed duplication of the IGLC locus, and C-banding of the duplicated region was negative. The duplication appears to involve 22q11.2-q12. Although the child has neither colobomas nor microphthalmia, he shows phenotypic overlap with with the cat eye syndrome, which is caused by a supernumerary bisatellited chromosome arising from inverted duplication of the short arm and proximal long arm of chromosome 22. Further molecular studies of this patient should help to define the regions responsible for the manifestations of cat eye syndrome. 17 refs., 3 figs., 1 tab.

  15. Effects of upper lid blepharoplasty on visual quality in patients with lash ptosis and dermatochalasis

    PubMed Central

    An, Seoung Hyun; Jin, Sang Wook; Kwon, Yoon Hyung; Ryu, Won Yeol; Jeong, Woo Jin; Ahn, Hee Bae

    2016-01-01

    AIM To assess the effects of upper lid blepharoplasty on visual quality. METHODS Seventy-three eyelids of 39 patients were subjected to upper lid blepharoplasty. Pre- and post-operative contrast sensitivity, visual acuity, vertical palpebral aperture and the degree of lash ptosis were measured. RESULTS The mean log contrast sensitivities under photopic (P=0.017) and scotopic conditions (P=0.009) were improved after surgery, and these differences were significant. The degree of lash ptosis was also decreased after blepharoplasty (P<0.001). CONCLUSION In our study, a significant increase in contrast sensitivity was found after surgery. These results suggest that upper lid blepharoplasty can be helpful for improving visual quality. PMID:27672599

  16. [Ocular symptoms in a family with pseudo-Ullrich-Turner syndrome].

    PubMed

    Förster, W; Lenz, W; Busse, H

    1991-11-01

    We report on a family with some features of the Pseudo-Ullrich-Turner-Syndrome, so-called Noonan-Syndrome. Besides low-set ears, microgenia, short neck, pterygium colli, low-anterior hair line and small stature as well as partial scoliosis, partial cubitus valgus and camptodactylia, retinal detachment, disturbances of the eye motility, keratoconus, unilateral ptosis and antimongoloid slant of the palpebral fissures in different expression are described. The caryotype was normal. Some of the features can be seen within at least 2 generations of the family. It seems to be an autosomal genetic mode of transmission. Differences and common characteristics in comparison to the literature are shown. Differential diagnostic aspects are described. A definite relation to a syndrome already described is not possible.

  17. Support of the Laboratory in the Diagnosis of Fungal Ocular Infections

    PubMed Central

    Vanzzini Zago, Virginia; Alcantara Castro, Marino; Naranjo Tackman, Ramon

    2012-01-01

    This is a retrospective, and descriptive study about the support that the laboratory of microbiology aids can provide in the diagnosis of ocular infections in patients whom were attended a tertiary-care hospital in México City in a 10-year-time period. We describe the microbiological diagnosis in palpebral mycose; in keratitis caused by Fusarium, Aspergillus, Candida, and melanized fungi; endophthalmitis; one Histoplasma scleritis and one mucormycosis. Nowadays, ocular fungal infections are more often diagnosed, because there is more clinical suspicion and there are easy laboratory confirmations. Correct diagnosis is important because an early medical treatment gives a better prognosis for visual acuity. In some cases, fungal infections are misdiagnosed and the antifungal treatment is delayed. PMID:22518339

  18. Hypoimmunoglobulinemia and protein C deficiency in a girl with Jacobsen syndrome: a case report.

    PubMed

    Sinawat, Suthasinee; Kitkhuandee, Amnat; Auvichayapat, Narong; Auvichayapat, Paradee; Yospaiboon, Yosanan; Sinawat, Supat

    2013-07-01

    Jacobsen syndrome is a rare contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. The typical clinical manifestations include physical growth retardation, mental retardation,facial dysmorphisms, congenital heart disease, thrombocytopenia, or pancytopenia. A Thai-Australian girl was born with multiple abnormalities. Typical features and her karyotype, 46, XX, del(ll) (q23-qter), confirmed Jacobson syndrome. She had many uncommon findings including upslanting palpebral fissures, tortuousity of retinal vessels and hypogammaglobulinemia. In addition, this case also presented with protein C deficiency, which has not been reported previously in Jacobsen syndrome. The patient was treated with phototherapy, intravenous antibiotic injection, and platelet transfusion in neonatal period. Cranioplasty was performed for prevention of the increased intracranial pressure at three months of age. Surgical correction for strabismus was in the treatment plan.

  19. Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality.

    PubMed

    Manassero-Morales, Gioconda; Alvarez-Manassero, Denisse; Merino-Luna, Alfredo

    2016-01-01

    Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears. During the neonatal period, the infant presented generalized hypotonia and lymphedema of hands and feet. Karyotype showed 47,X,r(X),+21 [30]. Conclusion. Clinical features of both Down and Turner syndromes were found, highlighting short stature that has remained below 3 z score from birth to the present, associated with delayed psychomotor development. G-banded karyotype analysis in peripheral blood is essential for a definitive diagnosis.

  20. [External canthopexy using the Edgerton-Montandon procedure in lagophthalmos of leprosy patients. Technique and indications. Apropos of 30 cases].

    PubMed

    Grauwin, M Y; Saboye, J; Cartel, J L

    1996-08-01

    This paper deals with the results observed in 21 ancient leprosy patients suffering from lagophthalmos (13 of whom suffered from bilateral lagophthalmos) and treated by the Edgerton-Montandon surgical procedure which associates lateral canthopexy and tarsorraphy. Eighteen of the 21 treated patients were reviewed at one month after the procedure and, overall, results could be evaluated for 30 eyes. Improvement was noted in all of the 30 eyes and, globally, the residual palpebral fissure (during voluntary closing of the eyes by the patient) decreased from 6.7 mm before the procedure to 1.8 after the procedure. The following recommendations may be proposed. For young patients with intact corneal sensation, the Gillies procedure remains the procedure of choice to correct lagophthalmos. For older patients with corneal anesthesia, at high risk of blindness, the Edgerton-Montandon procedure should be recommended.

  1. Kohlschütter-Tönz Syndrome - Report of an additional case.

    PubMed

    González-Arriagada, Wilfredo A; Carlos-Bregni, Román; Contreras, Elisa; Almeida, Oslei P; Lopes, Marcio A

    2013-04-01

    Kohlschütter-Tönz Syndrome is a rare disorder clinically characterized by amelogenesis imperfecta, epilepsy and progressive mental deterioration. We present an additional case of this syndrome of a nine year-old boy who was referred by pigmented teeth. The mental deterioration was associated with speech delay, impulsive behavior, attention-deficit/hyperactivity disorder, and learning problems. The physical examination revealed a reduction of lower third, slightly palpebral fissures, low ear and hair implantation, coarse hair and hypertrichosis. The intraoral examination showed alteration in teeth pigmentation diagnosed as amelogenesis imperfecta. Although rare, the present case report illustrates a syndrome that has dental anomalies and systemic alterations. It is important to recognize this syndrome as early as possible and paediatric dentist may contribute to the diagnosis and consequently to better manage the patients. Key words:Kohlschütter-Tönz syndrome, amelogenesis imperfecta, seizures, mental deterioration.

  2. Giant Cell Lesions in Noonan Syndrome: Case Report and Review of The Literature

    PubMed Central

    Bufalino, Andreia; Carrera, Manoela; Carlos, Roman

    2010-01-01

    Noonan-like/multiple giant cell lesion syndrome (NS/MGCLS) is a rare condition with phenotypic overlap with Noonan syndrome (NS). Once thought to be a specific and separate entity, it is now suggested to be a variant of the NS spectrum. We report a patient with classical cardinal features of NS, including short stature, mild ptosis, hypertelorism, down-slating palpebral fissures, low-set and posteriorly angulated ears, short neck, pectus excavatum, widely spaced nipples and cryptochidism, which were associated with bilateral central giant cell lesions in the mandible and germ-line mutation (C218T, Thr73Ile) in the exon 3 of the PTPN11 gene. The similar clinical and genetic aspects support the observation that NS/MGCLS is a variant of NS and giant cell lesions are an integrant part of this disorder. PMID:20383758

  3. Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH.

    PubMed

    Utine, Eda G; Alanay, Yasemin; Aktas, Dilek; Alikasifoglu, Mehmet; Boduroglu, Koray; Vermeesch, Joris; Tuncbilek, Ergul; Fryns, Jean-Pierre

    2008-01-01

    A 10(6/12)-year-old boy was referred to the genetics department because of mental retardation and dysmorphic findings including microcephaly, flat face, down-slanting palpebral fissures, strabismus, prominent ears, bulbous nasal tip, down-turned corners of the mouth, narrow palate, clinodactyly of the fifth fingers and generalised eczema. Cytogenetic analysis revealed a karyotype of 47,XY,+mar of paternal origin. Multicolour FISH showed the marker chromosome to be derived from chromosome 15. For further elucidation of the phenotype, array-based comparative genomic hybridisation (aCGH) was performed, which revealed dup(5)(q35.2qter) and del(1)(p36.3). Parental FISH analysis revealed that the translocation occurred de novo. Despite the presence of a clinical phenotype along with a microscopically visible chromosomal aberration, a complex cryptic cytogenetic abnormality was causative for the phenotype of the patient. Elucidation of this complex aberration required combination of the whole cytogenetic toolbox.

  4. Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH.

    PubMed

    Said, Edith; Cuschieri, Alfred; Vermeesch, Joris; Fryns, Jean Pierre

    2011-06-01

    Toriello-Carey syndrome is a rare multiple congenital anomaly syndrome comprising agenesis of the corpus callosum, telecanthus, short palpebral fissures, abnormal ears, Pierre Robin sequence, and cardiac anomaly. Autosomal recessive inheritance has been hypothesized and chromosome abnormalities have been reported. The present case is a girl with agenesis of the corpus callosum, a large cleft palate, telecanthus, hypertelorism, atrial septal defect, ventricular septal defect, and patent ductus arteriosus. A routine karyotype and fluorescence in situ hybridization subtelomeric analysis were normal. Array comparative genomic hybridization (CGH) identified a de novo 6 Mb interstitial deletion at 22q12.1→22q12.2. These findings support recent findings of chromosomal abnormalities in patients with the Toriello-Carey phenotype. We suggest that the clinical features described in some cases with Toriello-Carey syndrome might be due to cryptic chromosomal rearrangements and that array CGH should be considered in any case presenting with clinical features of Toriello-Carey.

  5. Pfeiffer-like syndrome with holoprosencephaly: a newborn with maternal smoking and alcohol exposure.

    PubMed

    Su, Pen-Hua; Chen, Jia-Yuh; Lee, Inn-Chi; Ng, Yan-Yan; Hu, Jui-Ming; Chen, Suh-Jen

    2009-10-01

    We report the case of a female infant with Pfeiffer-like syndrome and holoprosencephaly. She had a cloverleaf skull, ocular proptosis, broad thumbs and halluces, and variable accompanying anomalies compatible with Pfeiffer syndrome. She also displayed microcephaly, short palpebral fissures, and a smooth philtrum, which are clinical signs consistent with fetal alcohol syndrome. She suffered from multiple congenital anomalies and died at 41 days of age. Cardio-pulmonary failure, brain abnormalities, prematurity, and multiple complications contributed to her death. The patient displayed normal chromosomal numbers and type. DNA analysis did not reveal fibrobtast growth factor receptor (FGFR) genes FGFR1, FGFR2, FGFR3 or TWIST gene mutations. We review the previous reports of Pfeiffer syndrome and holoprosencephaly and describe our infant patient with Pfeiffer-like syndrome, holoprosencephaly, and heavy in utero maternal alcohol and smoking exposures.

  6. Association of mutations in FLNA with craniosynostosis

    PubMed Central

    Fennell, Nathalie; Foulds, Nicola; Johnson, Diana S; Wilson, Louise C; Wyatt, Michelle; Robertson, Stephen P; Johnson, David; Wall, Steven A; Wilkie, Andrew OM

    2015-01-01

    Mutations of FLNA, an X-linked gene that encodes the cytoskeletal protein filamin A, cause diverse and distinct phenotypes including periventricular nodular heterotopia and otopalatodigital spectrum disorders (OPDS). Craniofacial abnormalities associated with OPDS include supraorbital hyperostosis, down-slanting palpebral fissures and micrognathia; craniosynostosis was previously described in association with FLNA mutations in two individual case reports. Here we present four further OPDS subjects who have pathological FLNA variants and craniosynostosis, supporting a causal link. Together with the previously reported patients, frontometaphyseal dysplasia was the most common clinical diagnosis (four of six cases overall); five patients had multiple suture synostosis with the sagittal suture being the most frequently involved (also five patients). No genotype–phenotype correlation was evident in the distribution of FLNA mutations. This report highlights the need to consider a filaminopathy in the differential diagnosis of craniosynostosis, especially in the presence of atypical cranial or skeletal features. PMID:25873011

  7. Pathology of eyelid tumors

    PubMed Central

    Pe’er, Jacob

    2016-01-01

    The eyelids are composed of four layers: skin and subcutaneous tissue including its adnexa, striated muscle, tarsus with the meibomian glands, and the palpebral conjunctiva. Benign and malignant tumors can arise from each of the eyelid layers. Most eyelid tumors are of cutaneous origin, mostly epidermal, which can be divided into epithelial and melanocytic tumors. Benign epithelial lesions, cystic lesions, and benign melanocytic lesions are very common. The most common malignant eyelid tumors are basal cell carcinoma in Caucasians and sebaceous gland carcinoma in Asians. Adnexal and stromal tumors are less frequent. The present review describes the more important eyelid tumors according to the following groups: Benign and malignant epithelial tumors, benign and malignant melanocytic tumors, benign and malignant adnexal tumors, stromal eyelid tumors, lymphoproliferative and metastatic tumors, other rare eyelid tumors, and inflammatory and infections lesions that simulate neoplasms. PMID:27146927

  8. Estimating the Skull-to-Camera Distance from Facial Photographs for Craniofacial Superimposition.

    PubMed

    Stephan, Carl N

    2017-01-18

    The overlay of a skull and a face image for identification purposes requires similar subject-to-camera distances (SCD) to be used at both photographic sessions so that differences in perspective do not compromise the anatomical comparisons. As the facial photograph is the reference standard, it is crucial to determine its SCD first and apply this value to photography of the skull. So far, such a method for estimating the SCD has been elusive (some say impossible), compromising the technical validity of the superimposition procedure. This paper tests the feasibility of using the palpebral fissure length and a well-established photographic algorithm to accurately estimate the SCD from the facial photograph. Recordings at known SCD across a 1-10 m range (repeated under two test conditions) demonstrate that the newly formulated method works: a mean SCD estimation error of 7% that translates into <1% perspective distortion error between estimated and actual conditions.

  9. Additional case of Marden-Walker syndrome: support for the autosomal-recessive inheritance adn refinement of phenotype in a surviving patient.

    PubMed

    Orrico, A; Galli, L; Zappella, M; Orsi, A; Hayek, G

    2001-02-01

    In this report, we present a 14-year-old girl, born to consanguineous parents, who presented with severe mental retardation, hypotonia, short stature, and congenital joint contractures. The craniofacial features were scaphocephaly, thin/long and immobile face, marked hypoplasia of the midface, temporal narrowness, blepharophimosis, palpebral ptosis, and strabismus. The combination of such a distinctive craniofacial appearance and psychomotor retardation allows us to recognize a new case of the Marden-Walker syndrome. Our patient represents one of the rare cases in which consanguineous mating supports the autosomal-recessive pattern of inheritance of this condition. Furthermore, through refining the phenotype of a surviving patient, this report may contribute to a better recognition of this disorder in older affected children.

  10. Comparison of incidence of Demodex folliculorum on the eyelash follicule in normal people and blepharitis patients.

    PubMed

    Türk, Meral; Oztürk, Ilgin; Sener, Asli Gamze; Küçükbay, Safiye; Afşar, Ilhan; Maden, Ahmet

    2007-01-01

    Demodex folliculorum has been incriminated in the development of blepharitis although much controversy persist. Some authors suggest that Demodex is a direct pathogen in chronic palpebral conditions while others consider the saprophyte to be innocuous to skin. We conducted a prospective study of eyelashes in 48 patients with blepharitis (totally 96 eyes) and 48 healthy persons (totally 96 eyes), searching for Demodex folliculorum and chronic blepharitis. Microscopy in immersion oil after storage in a moist chamber was performed. It is determined Demodex follicullorum in 11 of 37 (29.72%) patients with blepharitis, in one of 11 (9.09%) patient with blepharoconjunctivitis and in 2 of 48 (4.16%) persons in healthy control group. Staphylococcus aureus was cultivated in five patients and D. folliculorum was found two of them. The incidence of Demodex folliculorum was high in patients with blepharitis compared with normal controls. Incidence was high in males. Anti-Demodex treatment is indicated when the parasite is found.

  11. Ocular manifestations in the Hutchinson-Gilford progeria syndrome.

    PubMed

    Chandravanshi, Shivcharan L; Rawat, Ashok Kumar; Dwivedi, Prem Chand; Choudhary, Pankaj

    2011-01-01

    The Hutchinson-Gilford progeria (HGP) syndrome is an extremely rare genetic condition characterized by an appearance of accelerated aging in children. The word progeria is derived from the Greek word progeros meaning 'prematurely old'. It is caused by de novo dominant mutation in the LMNA gene (gene map locus 1q21.2) and characterized by growth retardation and accelerated degenerative changes of the skin, musculoskeletal and cardiovascular systems. The most common ocular manifestations are prominent eyes, loss of eyebrows and eyelashes, and lagophthalmos. In the present case some additional ocular features such as horizontal narrowing of palpebral fissure, superior sulcus deformity, upper lid retraction, upper lid lag in down gaze, poor pupillary dilatation, were noted. In this case report, a 15-year-old Indian boy with some additional ocular manifestations of the HGP syndrome is described.

  12. Application of 2-um wavelength holmium lasers for treatment of skin diseases

    NASA Astrophysics Data System (ADS)

    Shcherbakov, Ivan A.; Klimov, Igor V.; Tsvetkov, Vladimir B.; Nerobeev, Alexander I.; Sadovnikova, Lija B.; Eliseenko, Vladimir I.

    1994-09-01

    Theoretical and experimental analysis of the efficiency of application of 2 micrometers pulsed holmium laser for cosmetic and plastic surgery and dermatology is carried out. Preliminary experiments were carried out on rats. Solid state 2 micrometers pulsed laser was allowed to operate in free running mode with pulse energy up to 1.5 J and pulse repetition rate up to 5 Hz. To deliver emission to the object a flexible quartz fiber without further focusing of 2.5 m in length and 400 micrometers of the core diameter was used. The effect of the different power density emission on the skin was studied. The second stage was the study of the influence of 2 micrometers emission on human skin. The results of the removal of hemangioma, papilloma, telangiectasia, nevus, nevus acantholytic, xanthelasma palpebral, verruca, chloasma, pigmental spots, tattoos, etc. are presented. Precision, simplicity, efficiency, and the high cosmetic effect of these operations is noted.

  13. Phenotypic variability of the cat eye syndrome. Case report and review of the literature.

    PubMed

    Rosias, P R; Sijstermans, J M; Theunissen, P M; Pulles-Heintzberger, C F; De Die-Smulders, C E; Engelen, J J; Van Der Meer, S B

    2001-01-01

    We present a male infant with preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome. The clinical features in our patient show phenotypic overlap with the cat eye syndrome, as illustrated by the review of 105 reported cases. Cytogenetic analysis revealed a supernumerary marker chromosome, which was identified by microdissection and fluorescence in situ hybridization as an isodicentric chromosome 22(pter --> q11.2::q11.2 --> pter). It was proved with probes specific for the cat eye syndrome critical region that this region was present in quadruplicate in the propositus. We conclude that CES is characterized by large phenotypic variability, ranging from near normal to severe malformations, as reflected in the neurodevelopmental outcome. Preauricular skin tags and/or pits are the most consistent features, and suggest the presence of a supernumerary bisatellited marker chromosome 22 derived from duplication of the CES critical region.

  14. Interstitial duplication of proximal 22q: phenotypic overlap with cat eye syndrome.

    PubMed

    Knoll, J H; Asamoah, A; Pletcher, B A; Wagstaff, J

    1995-01-16

    We describe a child with downslanting palpebral fissures, preauricular malfunctions, congenital heart defect (total anomalous pulmonary venous return), unilateral absence of a kidney, and developmental delay with an apparent interstitial duplication of proximal 22q. Fluorescent in situ hybridization (FISH) analysis showed duplication of the IGLC locus, and C-banding of the duplicated region was negative. The duplication appears to involve 22q11.2-q12. Although the child has neither colobomas nor microphthalmia, he shows phenotypic overlap with the cat eye syndrome, which is caused by a supernumerary bisatellited chromosome arising from inverted duplication of the short arm and proximal long arm of chromosome 22. Further molecular studies of this patient should help to define the regions responsible for the manifestations of cat eye syndrome.

  15. Primary corneal papilloma and squamous cell carcinoma associated with pigmentary keratitis in four dogs.

    PubMed

    Bernays, M E; Flemming, D; Peiffer, R L

    1999-01-15

    Squamous cell carcinoma (SCC) and squamous papilloma are rarely reported as primary lesions of the cornea in dogs. One case of corneal papilloma and 3 cases of SCC, each arising as a primary central corneal neoplasm rather than spreading from adjacent limbal conjunctiva, were reviewed. The most common cause of SCC in animals is chronic exposure of lightly pigmented epithelium to UV light; however, all dogs in this study had a history of chronic pigmentary keratitis. Three of the 4 dogs were of brachycephalic breeds with naturally proptotic eyes and oversized palpebral fissures that may have exposed the cornea to greater excessive solar radiation. Alternatively, mechanical factors that caused chronic changes in the cornea may have been causative factors for induction of primary dysplastic or neoplastic changes. Primary corneal neoplasia should be considered in the differential diagnosis of corneal masses.

  16. Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21) (p16.3;q22.1): Relevance to the Wolf-Hirschhorn and Down syndrome critical regions

    SciTech Connect

    Sebastio, G.; Perone, L.; Guzzetta, V.

    1996-05-17

    We report on an aneuploidy syndrome due to the unbalanced segregation of a familial translocation (4;21)(p16.3;q22.1) causing a partial 4p monosomy and a partial 21q trisomy. The three affected children presented with severe failure to thrive, short stature, microcephaly, profound hypotonia, and mental retardation. The face, very similar in the three children, is characterized by frontal bossing, upslanting of the palpebral fissures, short nose, and deep set ears, giving the overall appearance of the Down syndrome. The molecular study has defined the aneuploid segment on both 4p and 21q. Most of the Down syndrome critical region was found to be trisomic, while only part of the candidate Wolf-Hirschhorn syndrome critical region was deleted, suggesting that this region is not critical for the major malformations characteristic for WHS. 15 refs., 5 figs., 1 tab.

  17. Oral doxycycline, niacinamide and prednisolone used to treat bilateral nodular granulomatous conjunctivitis of the third eyelid in an Australian Kelpie dog.

    PubMed

    Hurn, Simon; Mc Cowan, Christina; Turner, Andrew

    2005-01-01

    A 5-year-old, female neutered, Australian Kelpie presented with a 2-month history of dramatic bilateral erythematous thickening of the third eyelids. Ophthalmic examination demonstrated raised, pink to red, irregular thickening of the entire palpebral surface of both third eyelids. There were no other ocular abnormalities. A surgical biopsy was taken from each third eyelid. Histopathologic examination revealed sheets of macrophages, plasma cells, lymphocytes, and occasional fibroblasts and neutrophils infiltrating the third eyelid stroma. A diagnosis of chronic granulomatous conjunctivitis was made. Grossly and histopathologically this case closely resembles previously described cases of nodular granulomatous conjunctivitis involving the third eyelids of Collie dogs. This report describes an unusual case of nodular granulomatous conjunctivitis isolated to the third eyelids in an Australian Kelpie. Resolution of the condition was achieved with a combination of oral doxycycline, niacinamide and prednisolone.

  18. Glass wool tripod foreign bodies in the eye: first ever reported case series.

    PubMed

    Baile, Rahul B; Meghana, Sahasrabuddhe-Chitnis; Pattiwar, Madhuri S

    2014-01-01

    We present three cases of unusual corneal/conjunctival foreign bodies that were not visible on standard slit lamp examination. All patients presented with complaints of foreign body sensation in the affected eyes. One patient had visited an ophthalmologist prior to presentation to our center and was diagnosed and treated for conjunctivitis. On slit lamp examination minimal congestion was seen hence, all the patients were diagnosed with conjunctivitis with corneal epithelial defects by the residents. However, because the patients complained of foreign body sensation, fluorescein staining of the affected eye was performed. On examination, the corneas had epithelial defects and linear scratch marks. We suspected a foreign body in upper palpebral conjunctiva (UPC). Examination after eyelid eversion indicated tripod-shaped glassy foreign bodies embedded deep within the UPC. We present cases of an unusual type of glassy tripod-shaped foreign body which may go undetected even on slit lamp examination. Fluorescein staining may aid in the detection of these foreign bodies.

  19. PROSE treatment for lagophthalmos and exposure keratopathy.

    PubMed

    Gire, Anisa; Kwok, Alan; Marx, Douglas P

    2013-01-01

    Prosthetic replacement of the ocular surface ecosystem is a treatment developed by the Boston Foundation for Sight that uses a Food and Drug Administration-approved prosthetic device for the treatment of severe ocular surface disease to improve vision and discomfort in addition to supporting the ocular surface. Facial nerve paralysis has multiple causes including trauma, surgery, tumor, stroke, and congenital lagophthalmos. Subsequent lagophthalmos leading to exposure keratitis has been treated with copious lubrication, tarsorrhapy, eyelid weights, chemodenervation to yield protective ptosis, and palpebral spring insertion. Each of these treatments, however, has limitations and potential complications. The prosthetic replacement of the ocular surface ecosystem device provides a liquid bandage to protect the cornea from eyelid interaction and dessication in addition to improving vision. This report describes 4 patients with exposure keratitis who were successfully treated with prosthetic replacement of the ocular surface ecosystem devices at 2 clinical sites.

  20. Reversible bilateral blepharoptosis following oxaliplatin infusion: a case report and literature review.

    PubMed

    Fanetti, Giuseppe; Ferrari, Laura A M; Pietrantonio, Filippo; Buzzoni, Roberto

    2013-01-01

    Oxaliplatin, a platinum analogue employed in the treatment of colorectal cancer and various other neoplasms, is characterized by a broad range of adverse events. Peripheral neuropathy is probably the most peculiar and clinically relevant toxicity associated with its use and can be distinguished into two types: acute and chronic neurotoxicity.We report a case of acute reversible bilateral palpebral ptosis and dyspnea without bronchospasm or laryngospasm which occurred at the end of the third administration of adjuvant oxaliplatin by infusion for stage III colon cancer in a 54-year-old woman. Chlorphenamine and hydrocortisone were administered with fast resolution of dyspnea and slight improvement of ptosis. Complete resolution with no sequelae occurred in one hour. No further recurrence of blepharoptosis was described during the following days. The subsequent cycles were prescribed at reduced dosage without acute complications.

  1. Brief clinical report: duplication of distal 17q: report of an observation.

    PubMed

    Naccache, N F; Vianna-Morgante, A M; Richieri-Costa, A

    1984-03-01

    We describe a boy with the syndrome due to dup(17q) resulting from a paternal balanced t(12;17) (q24;q23). The comparison of the clinical findings in our patient with those previously reported shows that the dup(17q23----qter) is associated with a clinically recognizable syndrome. Anomalies present in greater than or equal to 75% of the patients were severe psychomotor retardation; short stature; microcephaly; frontal bossing and temporal retraction; widow's peak; narrow palpebral fissures; flat nasal bridge; thin upper lip overlapping thin lower lip; downturned corners of the mouth; apparently low-set, posteriorly angulated and malformed ears; low posterior hairline; widely spaced nipples; cryptorchidism; proximal limb shortness; and hyperlaxity of limb joints. The translocation carrier father of our patient had a Poland anomaly.

  2. Aarskog syndrome: report of a family with review and discussion of nosology.

    PubMed

    Teebi, A S; Rucquoi, J K; Meyn, M S

    1993-06-15

    Five individuals in one family, including dizygotic male twins, a half brother and their mother, had Aarskog syndrome (AS). Phenotypic variability is wide not only between mother and sons but also between sibs. Collectively, the affected relatives have the full spectrum of findings seen in AS. Based on analysis of this family and others from the literature, we derive primary and secondary diagnostic criteria for AS. Primary criteria include: short stature, hypertelorism, short nose with anteverted nares, maxillary hypoplasia, a crease below the lower lip, mild interdigital webbing with short and broad hands, short fifth finger with clinodactyly, and shawl scrotum. Secondary criteria include: abnormal auricles with fleshy lobules, posteriorly angulated ears, widow's peak, ptosis, downward slant of palpebral fissures, joint hyperextensibility, broad feet with bulbous toes, cryptorchidism, inguinal hernia, and prominent umbilicus. Literature pertaining to the clinical manifestations and genetics of AS is reviewed and nosology of similar syndromes is discussed.

  3. Atrioventricular block and wiry hair in Teebi hypertelorism syndrome.

    PubMed

    Han, Xiao-Dong; Cox, Vicki; Slavotinek, Anne

    2006-09-15

    We report on a 4 1/2-year-old girl with clinical features of Teebi hypertelorism syndrome (THS), including a prominent forehead with a widow's peak, heavy and broad eyebrows, hypertelorism, long palpebral fissures, ptosis, a thin upper lip, a grooved chin, and a left preauricular cyst. She required a pacemaker for third degree atrioventricular (AV) block, a finding that has not been previously reported in 36 other patients with THS and for which we were unable to identify other causes. We have reviewed the previous reports of THS and note a characteristic facial appearance with hypertelorism, heavy, broad, and arched eyebrows, a thin upper lip with a long and deep philtrum, and a prominent forehead. Structural cardiac defects were present in five patients, implying that cardiac investigations are warranted in patients with a cardiac murmur and a clinical diagnosis of THS.

  4. Brief clinical report: an infant with duplication of 17q21 lead to 17qter.

    PubMed

    Gallien, J U; Neu, R L; Wynn, R J; Steinberg-Warren, N; Bannerman, R M

    1981-01-01

    Duplication of the distal part of 17q has been reported in 4 patients [1,2]. We are reporting clinical, autopsy, and cytogenetic data on an additional patient whose condition was due to a familial translocation in which the patient's chromosome constitution is 46,XX, der(4),t(4;17)(p16;q21) pat. The phenotype of the five known patients with this duplication is very similar, and their manifestations are distinct enough to be clinically recognizable. Abnormalities common to all five patients are severe growth impairment, craniofacial anomalies with severe hypertelorism, frontal bossing and temporal narrowness, a widow's peak, narrow palpebral fissures, a thin upper lip overlapping a thin lower lip with down-turned corners of the mouth, micrognathia, apparently low-set and deformed ears, short webbed neck, and hyperlaxity of the limbs.

  5. A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities.

    PubMed

    Spiegel, Ronen; Horovitz, Yoseph; Peters, Hartmut; Erdogan, Fikret; Chervinsky, Ilana; Shalev, Stavit A

    2009-12-01

    We report on three individuals of Muslim Arab origin from a village located in Northern Israel affected by an apparent autosomal recessive syndrome characterized by distinctive facial phenotype of which the most prominent feature is ocular hypertelorism. The other clinical features of the syndrome include variable degree of mental retardation, genital abnormalities dominated by short penis, and skeletal abnormalities including chest deformity (combination of upper pectus carinatum with lower pectus excavatum), and short palms with broad short fingers. Affected individuals displayed distinctive facial features including upslanting palpebral fissures, thick eyebrows, long philtrum, wide mouth with thin upper lip and upturned corners of the mouth, widow's peak, broad nasal bridge, and simple ears with fleshy overfolded helices. This phenotype does not fully meet typical diagnostic features of any known condition.

  6. Unilateral proptosis and orbital cellulitis in eight African hedgehogs (Atelerix albiventris).

    PubMed

    Wheler, C L; Grahn, B H; Pocknell, A M

    2001-06-01

    Eight African hedgehogs (Atelerix albiventris) were presented with unilateral proptosis. Six animals presented specifically for an ocular problem, whereas two had concurrent neurologic disease. Enucleation and light microscopic examination of tissues was performed in five animals, and euthanasia followed by complete postmortem examination was performed in three animals. Histopathologic findings in all hedgehogs included orbital cellulitis, panophthalmitis, and corneal ulceration, with perforation in seven of eight eyes. The etiology of the orbital cellulitis was not determined, but it appeared to precede proptosis. Orbits in hedgehogs are shallow and the palpebral fissures are large, which may predispose them to proptosis, similar to brachycephalic dogs. This clinical presentation was seen in 15% (8/54) of African hedgehogs presented to the Western College of Veterinary Medicine over a 2-yr period from January 1995 to December 1996 and warrants further investigation.

  7. Non-invasive Self-Care Anemia Detection during Pregnancy Using a Smartphone Camera

    NASA Astrophysics Data System (ADS)

    Anggraeni, M. D.; Fatoni, A.

    2017-02-01

    Indonesian maternal mortality rate is the highest in South East Asia. Postpartum hemorrhage is the major causes of maternal mortality in Indonesia. Anemia during pregnancy contributes significantly to postpartum hemorrhage. Early detection of anemia during pregnancy may save mothers from maternal death. This research aim to develop a non-invasive self-care anemia detection based on the palpebral color observation and using a smartphone camera. The color intensity (Red, Green, and Blue) was then measured using a Colorgrab software (Loomatix) and analyzed compared to the hemoglobin concentration of the samples, measured using standard Spectrophotometer method. The result showed that the red color intensity had a high correlation (R2=0.814) with a linear regression of y=14.486x + 50.228. This preliminary study may be used as anemia early detection which more objective compared to visual assessment usually performed.

  8. Tranexamic acid-induced ligneous conjunctivitis with renal failure showed reversible hypoplasminogenaemia.

    PubMed

    Song, Youngseok; Izumi, Naohiro; Potts, Luke Benjamin; Yoshida, Akitoshi

    2014-05-19

    Ligneous conjunctivitis is a rare severe conjunctivitis characterised by fibrin-rich, 'woody', pseudomembranes on the tarsal conjunctiva complicated by congenital hypoplasminogenaemia. A previous report suggested that ligneous conjunctivitis may result from tranexamic acid (TA)-induced 'secondary' hypoplasminogenaemia. However, the serum plasminogen level has not been confirmed in that scenario. We report for the first time a case of TA-induced ligneous conjunctivitis with reversible hypoplasminogenaemia. A 70-year-old woman developed a gastric ulcer that was treated with oral TA. After 5 weeks of treatment, the patient presented with bilateral pale yellow pseudomembranes on the palpebral conjunctivae. Haematological analysis showed hypoplasminogenaemia. We diagnosed ligneous conjunctivitis. TA was discontinued after 14 weeks after the gastric ulcer symptoms resolved. Six weeks after discontinuation of therapy, the pseudomembranes regressed and the serum plasminogen level returned to the normal range. TA should be considered a possible aetiology in the setting of unresolving ligneous conjunctivitis.

  9. Treatment of ligneous conjunctivitis with amniotic membrane transplantation and topical cyclosporine.

    PubMed

    Tok, Ozlem Yalcin; Kocaoglu, Fatma Akbas; Tok, Levent; Burcu, Ayse; Ornek, Firdevs

    2012-01-01

    Ligneous conjunctivitis (LC) is a rare form of bilateral chronic recurrent disease in which thick membranes form on the palpebral conjunctiva and other mucosal sites. We report the clinical features and describe the management of two cases. Case 1 was an 8-month-old patient with bilateral membranous conjunctivitis. Case 2 was a 5-year-old patient with unilateral membranous conjunctivitis, esotropia, mechanical ptosis and complicated cataract, and had been treated with a number of medications. Histological investigation of the membrane in both cases showed LC. Treatments with amniotic membrane transplantation and institution of topical cyclosporine have shown good response. There has been complete resolution of the membranes with no recurrence at the end of 40- and 28-month follow-ups, respectively. No treatment related side effects were seen. Thus, it appears that amniotic membrane transplantation and topical cyclosporine are effective alternatives for the treatment of LC.

  10. Induction of bilateral ligneous conjunctivitis with the use of a prosthetic eye.

    PubMed

    Yazıcı, Bülent; Yıldız, Meral; Irfan, Tayfun

    2011-02-01

    The purpose of this article to report a case of ligneous conjunctivitis in an anophthalmic socket, in respect of a 20-year-old woman. The subject woman had a history of left enucleation surgery presented with bilateral palpebral ligneous conjunctivitis and ligneous gingivitis. The hematologic study revealed a severe plasma plasminogen deficiency. The eyelid lesions were successfully treated with surgical excision, topical heparin and corticosteroid eyedrops. However, the ligneous lesions recurred bilaterally after she was fitted with a prosthetic eye and were refractory to intensive topical treatment with heparin and cyclosporin A eye drops. This case shows that the use of a prosthetic eye may induce ligneous conjunctivitis in an anophthalmic socket and normal eye which is refractory to topical treatment.

  11. Ligneous conjunctivitis in a patient of juvenile colloid milia: A rare association.

    PubMed

    Bhave, Shubhangi Sudhir; Joshi, Sanyogita Swapnil

    2015-04-01

    We present to you, case of a 10-year-old female with h/o redness, watering since 8 months. Her vision was 20/30 in right eye and 20/70 in left eye. Conjunctiva had plenty of purulent discharge and palpebral conjunctiva was studded with membranous lesions. She was found to have multiple hyperpigmented papulopustular lesions over face, palms and legs. She was started with topical moxifloxacin and lubricating drops. Patient was followed-up after 15 days. At that time her conjunctiva had formation of a woody pseudomembrane. Excision of the lesions and skin biopsy was done and sent for hislopathological examination. Findings of histopathological examination were suggestive of ligneous conjunctivitis and juvenile colloid milia. We have started this patient with long-term cyclosporine drops and tear supplements. In next visit, the membrane was resolved. Hence, we continued with the same treatment, but again the woody membrane recurred.

  12. Topical Plasminogen as Adjunctive Treatment in Recurrent Ligneous Conjunctivitis.

    PubMed

    Ang, Michael J; Papageorgiou, Konstantinos I; Chang, Shu-Hong; Kohn, Jocelyn; Chokron Garneau, Helen; Goldberg, Robert A

    Ligneous conjunctivitis is a rare, autosomal recessive, membranous conjunctivitis characterized by a deficiency in type 1 plasminogen. The absence of normal plasmin activity results in the formation of fibrin-rich, membranous material that typically manifests on the palpebral conjunctiva. Surgical treatment often causes irritation of the conjunctiva and accelerated recurrence of pseudomembranes. In this interventional case report, the authors document the results of treatment with topical plasminogen following conjunctival pseudomembrane excision in a 32-year-old woman. The patient underwent pseudomembrane excision in the OS followed immediately by hourly topical application of plasminogen eye drops. The plasminogen was prepared from pooled human plasma purchased under Food and Drug Administration approval from DiaPharma. Follow-up evaluation at 1 week, 1 month, and 5 months showed no evidence of recurrent pseudomembranous change. Adjunctive topical plasminogen application appears to be an effective and safe method of controlling pseudomembrane recurrence in patients with ligneous conjunctivitis.

  13. Post vaccine acute disseminated encephalomyelitis as the first manifestation of chromosome 22q11.2 deletion syndrome in a 15-month old baby: a case report.

    PubMed

    Valenzise, Mariella; Cascio, Antonio; Wasniewska, Malgorzata; Zirilli, Giuseppina; Catena, Maria Ausilia; Arasi, Stefania

    2014-09-29

    We describe a case of a 15-month-old female child admitted to our hospital because of fever, rash, neurological signs (oscillation between states of irritability and drowsiness), palpebral edema and drooping eyelid, appeared 10 days after the vaccination for measles, mumps and rubella. Brain MRI images showed multiple bilateral hyperintense lesions in the white matter typical of acute disseminated encephalomyelitis (ADEM), an autoimmune demyelinating disorder with inflammatory lesions of the central nervous system, due to viral antigens or vaccines. In the mean time, because of patient's vague phenotypic manifestations, suggestive of a genetic defect, array comparative genomic hybridization was carried out which showed the presence of a microdeletion 22q11.21, linked to the DiGeorge syndrome. Our case suggests that pediatric cases of post-vaccination ADEM, in which neurological signs persist, should be investigated for genetic phenotypical features, in order to exclude the presence of a genetic syndrome or disease.

  14. Fungal keratitis in a gopher tortoise (Gopherus polyphemus).

    PubMed

    Myers, Debbie A; Isaza, Ramiro; Ben-Shlomo, Gil; Abbott, Jeffrey; Plummer, Caryn E

    2009-09-01

    A free-ranging gopher tortoise (Gopherus polyphemus) presented for trauma and blindness. Fibrinous exudate obscured visualization of the globes. This exudative crust extended from the conjunctival fornices through the palpebral fissure and was manually removed. Ophthalmic examination revealed bilateral corneal ulcerations and scarring and phthisis bulbi of the left globe. Histology of the crust revealed a necrotic conjunctivitis with intralesional fungal hyphae. Culture of the corneal ulcer of the left eye isolated moderate growth of a mixed fungal flora consisting of Curvularia sp. and Aspergillus sp. Miconazole ophthalmic solution was administered and the ulcers in both eyes healed, but corneal edema continued. After 2 mo of treatment with miconazole, tramadol, acetylcysteine, hypertonic saline ointment, artificial tears, and hypertonic saline flushes, the right eye was normal with only a small scar. The left eye remained phthisical. This is the first report of fungal keratitis in a wild reptile and a gopher tortoise.

  15. Fatal Envenomation of a Chilean Flamingo (Phoenicopterus chilensis) From Eastern Yellow Jacket Wasps (Vespula maculifrons).

    PubMed

    Suedmeyer, Wm Kirk; Trupkiewicz, John G

    2014-12-01

    A 37-year-old, female Chilean flamingo (Phoenicopterus chilensis) presented with severe facial angioedema, bilateral corneal and palpebral edema, nictitating membrane paralysis, bradycardia, bradypnea, hypothermia, and numerous stingers and remnants of eastern yellow jacket wasps (Vespula maculifrons) attached to the feathers of the head, palpebrae, and conjunctiva. Evaluation of 2 complete blood cell counts and results of plasma chemical analysis and serum protein electrophoresis revealed severe increases in creatinine phosphokinase and aspartate aminotransferase activity, electrolyte disturbances, and moderate increases in levels of α1, α2, β1, and γ immunoglobulins when compared with reference interval values and conspecifics. Despite intensive treatment, the bird died 19 hours after presentation. Results of histologic evaluation of tissues were compatible with envenomation. Response to envenomation in avian species is not documented but should be considered in birds presenting with angioedema.

  16. Partial monosomy of chromosome 10 short arms.

    PubMed Central

    Gencík, A; Brönniman, U; Tobler, R; Auf der Maur, P

    1983-01-01

    Two children with monosomy 10p13 are reported. In the first case the monosomy was the result of a maternal balanced translocation t(3;10) (p27;p13) while the second case was a de novo mutation. We reviewed clinical details of cases reported so far and found that certain symptoms are typical of the deletion of a comparatively large segment of chromosome 10 short arms. These symptoms include mental and growth retardation, skull abnormalities, antimongoloid slant of the eyes, ear abnormalities, anteverted nostrils, abnormalities of the hands and feet, cryptorchidism in boys, and, primarily, hypoplasia or aplasia of the olfactory bulbs and olfactory tracts as well as narrow palpebral fissures or eyelid ptosis. Images PMID:6842544

  17. The vascular system of the upper eyelid. Anatomical study and clinical interest.

    PubMed

    Lopez, R; Lauwers, F; Paoli, J R; Boutault, F; Guitard, J

    2008-05-01

    Thorough knowledge of the vascular supply is indispensable for repair and oncologic surgery of the eyelids, and has a significant impact on the management of complex defects of this region. This anatomic study was performed with five fresh cadavers after arterial injection of coloured neoprene latex. The distribution of the vascular system of the upper eyelid was examined after dissection and photographic study. It is made up of three arcades: the preseptal arcade, the supratarsal arcade, and the marginal arcade, under the orbicularis oculi muscle. These arcades are supplied by branches of the ophthalmic artery (supraorbital artery, supratrochlear artery and medial palpebral artery) and branches of the facial artery and temporal artery. Small vertical branches arising out of these arcades provide an anastomotic network. This anatomical study aimed to describe the vascular system of the upper eyelid in order to search for constant features and to map the blood supply of the principal upper lid flaps.

  18. Prenatal diagnosis of a de novo inversion of chromosome (2)(p21q11).

    PubMed

    Hengstschläger, M; Mittermayer, C; Prusa, A R; Drahonsky, R; Repa, C; Deutinger, J; Bernaschek, G

    2003-08-01

    Prenatal diagnosis of "apparently balanced" chromosomal rearrangements, if not inherited from a parent, are problematic for genetic counsellors and families. Although the parents need to be informed about the increased risk of multiple congenital anomalies, the anomalies that the fetus is at risk can not be discussed unless a similar breakpoint and accompanying phenotype have been reported in the literature. In the reported case prenatal ultrasound examination revealed a massive hydrocephalus internus and IUGR. The karyotype of the fetus was inv(2)(p21q11) de novo. Postmortem examination revealed short palpebral fissures, hypertelorism, atypical nasiolabial configuration, microgenia, extended position of the fingers, atypical proximal inserted first toe, hydrocephalus internus, hypoplasia of the cerebellum and bulbi olfactorii, bilateral hypoplastic lungs, atrial septal defect II, small right ventricle, dysplasia of the pulmonary valve, hypoplastic pulmonary artery, right proximal ureterostenosis, hypoplastic gall bladder. This is the first description of a de novo inversion (2)(p21q11) in a fetus with multiple malformations.

  19. Pathophysiology of free-bullet slaughter of horses and ponies.

    PubMed

    Gibson, Troy J; Bedford, Elisabeth M; Chancellor, Natalie M; Limon, Georgina

    2015-10-01

    Forty-six equines were observed during routine commercial slaughter in an abattoir. The animals were shot once with a .22 calibre long rifle with hollow point rounds. Indicators of sensibility/insensibility were evaluated immediately after the shot (prior to exsanguination) and the resulting pathophysiology of free-bullet injury was assessed. All animals were rendered immediately insensible, with only one pony showing signs of a shallow depth of concussion, with an intermittently positive palpebral reflex but no other signs of brainstem function. All animals (100%) had some degree of damage to the structures of the brainstem or lobes of the cerebrums, while 41 (89%) had damage to the thalamus/hypothalamus. The bullet in one pony missed the brain but still caused mild damage to the thalamus, midbrain, pons and cerebellum, this animal had no signs of sensibility. The findings confirm that free-bullet shooting is an effective dispatch method for horses and ponies.

  20. [Immunohistochemistry in ophthalmic pathology: applications and limitations].

    PubMed

    Pluot, M; Cahn, V; Ducasse, A

    2006-10-01

    We evaluate the applications of immunohistochemistry (IHC) in ophthalmic cytology and pathology. The principles of the techniques used in IHC are described. Recent improvements are highlighted, such as the polymeric labeling two-step method, tyramine signal amplification, rabbit monoclonal antibodies, and labeled nanocrystals. The results of the immunohistochemical methods are collected in bacterial and viral diseases and in tumors of the eye and its adnexa, the pathology of which varies greatly. The results in lymphomas, melanomas, and palpebral tumors were more details for practical reasons. There are widespread applications of IHC in ophthalmic pathology, extending from viral ocular and general diseases to the diagnosis of tumors. In some conditions, this technique needs to be associated with molecular biology investigations. Automation helps establish standard protocols, but IHC is a multistep diagnostic method requiring proper selection, fixation, processing, and staining procedures. From a general standpoint, good communication between pathologists and ophthalmologists is the best guarantee of satisfying results.

  1. Z-epicanthoplasty in Asian eyelids.

    PubMed

    Park, J I

    1996-09-01

    The creation of a supratarsal fold is the most frequently performed cosmetic surgical procedure in Asia. The presence of epicanthal folds in Asian eyelids is one of their unique features, in combination with the lack of supratarsal folds. While this represents an element of Oriental beauty in a traditional way, many seek cosmetic improvement in the medial canthal area to eliminate the epicanthal fold. Epicanthoplasty enhances the aesthetic result of the double-lid procedure by lengthening the palpebral fissure, thus producing the image of a larger, open eye. I present a simple, easily reproducible method of Z-epicanthoplasty based on my experience with 160 cases performed during the past 21 months on Asian eyelids. The advantages of this procedure are simplicity in design and minimal scarring produced in the medial canthal area as compared with complex W-plasty, which requires multiple incisions and often creates unsightly scarring.

  2. [Keratosis follicularis spinulosa decalvans (Siemens' syndrome) associated with other abnormalities].

    PubMed

    Domenech, P; Ferrando, J; Corretger, M; Torras, H; Valls, X; González, A

    1985-01-01

    Keratosis follicularis spinulosa decalvans (ichthyosis follicularis or Siemens's syndrome) is considered a general form of keratosis pilaris decalvans. Localized types are keratosis pilaris atrophicans and atrophoderma vermicularis. A case of this unusual process is presented. Clinical, histological and scanning electron microscopic studies of the hair were performed. Clinically, a generalized hypotrichosis with hyperkeratotic follicular plugs is observed; especially in the scalp and the eyebrows. Other interesting clinical findings were cutis hyperelastica, gingival hypertrophy, mongoloid palpebral fissures, big pinnae and clinodactyly of the 5th finger. From the histological point of view we observed follicular plugging, dystrophic pilosebaceous follicles, absence of sebaceous glands, perifollicular fibrosis and minimal lymphomonocytic infiltrate. Scanning electronmicroscopy shows a brittle hair with cuticular abnormalities. Siemens's syndrome can be considered a specific pilosebaceous dysplasia because the absence or hypoplasia of sebaceous glands; which produces follicular hyperkeratosis and pilar atrophy with perifollicular fibrosis and alopecia.

  3. 14q12 Microdeletion syndrome and congenital variant of Rett syndrome.

    PubMed

    Mencarelli, Maria Antonietta; Kleefstra, Tjitske; Katzaki, Eleni; Papa, Filomena Tiziana; Cohen, Monika; Pfundt, Rolph; Ariani, Francesca; Meloni, Ilaria; Mari, Francesca; Renieri, Alessandra

    2009-01-01

    Only two patients with 14q12 deletion have been reported to date. Here, we describe an additional patient with a similar deletion in order to improve the clinical delineation of this new microdeletion syndrome. The emerging phenotype is characterized by a Rett-like clinical course with an almost normal development during the first months of life followed by a period of regression. A peculiar facial phenotype is also present and it is characterized by mild dysmorphisms such as downslanting palpebral fissures, bilateral epicanthic folds, depressed nasal bridge, bulbous nasal tip, tented upper lip, everted lower lip and large ears. The relationship between this microdeletion syndrome and the congenital variant of Rett syndrome due to point mutations in one of the genes included in the deleted region, FOXG1, is discussed.

  4. Regional differences in rat conjunctival ion transport activities.

    PubMed

    Yu, Dongfang; Thelin, William R; Rogers, Troy D; Stutts, M Jackson; Randell, Scott H; Grubb, Barbara R; Boucher, Richard C

    2012-10-01

    Active ion transport and coupled osmotic water flow are essential to maintain ocular surface health. We investigated regional differences in the ion transport activities of the rat conjunctivas and compared these activities with those of cornea and lacrimal gland. The epithelial sodium channel (ENaC), sodium/glucose cotransporter 1 (Slc5a1), transmembrane protein 16 (Tmem16a, b, f, and g), cystic fibrosis transmembrane conductance regulator (Cftr), and mucin (Muc4, 5ac, and 5b) mRNA expression was characterized by RT-PCR. ENaC proteins were measured by Western blot. Prespecified regions (palpebral, fornical, and bulbar) of freshly isolated conjunctival tissues and cell cultures were studied electrophysiologically with Ussing chambers. The transepithelial electrical potential difference (PD) of the ocular surface was also measured in vivo. The effect of amiloride and UTP on the tear volume was evaluated in lacrimal gland excised rats. All selected genes were detected but with different expression patterns. We detected αENaC protein in all tissues, βENaC in palpebral and fornical conjunctiva, and γENaC in all tissues except lacrimal glands. Electrophysiological studies of conjunctival tissues and cell cultures identified functional ENaC, SLC5A1, CFTR, and TMEM16. Fornical conjunctiva exhibited the most active ion transport under basal conditions amongst conjunctival regions. PD measurements confirmed functional ENaC-mediated Na(+) transport on the ocular surface. Amiloride and UTP increased tear volume in lacrimal gland excised rats. This study demonstrated that the different regions of the conjunctiva exhibited a spectrum of ion transport activities. Understanding the specific functions of distinct regions of the conjunctiva may foster a better understanding of the physiology maintaining hydration of the ocular surface.

  5. The prevalence and clinical relevance of hyperkalaemia in calves with neonatal diarrhoea.

    PubMed

    Trefz, Florian M; Lorch, Annette; Feist, Melanie; Sauter-Louis, Carola; Lorenz, Ingrid

    2013-03-01

    One hundred and twenty-four calves with neonatal diarrhoea were investigated in order to assess the prevalence of hyperkalaemia and the associated clinical signs. Hyperkalaemia (potassium concentration >5.8mmol/L) was recognized in 42 (34%) calves and was more closely associated with dehydration than with decreases in base excess or venous blood pH. In 75 calves with normal blood concentrations of D-lactate (i.e. ⩽3.96mmol/L), K concentrations were moderately correlated with base excess values (r=-0.48, P<0.001). In contrast, no significant correlation was observed in 49 calves with elevated D-lactate. Only three hyperkalaemic calves had bradycardia and a weak positive correlation was found between heart rate and K concentrations (r=0.22, P=0.014). Ten of the 124 calves had cardiac arrhythmia and of these seven had hyperkalaemia indicating that cardiac arrhythmia had a low sensitivity (17%) but a high specificity (96%) as a predictor of hyperkalaemia. In a subset of 34 calves with base excess values ⩽-5mmol/L and D-lactate concentrations <5mmol/L (of which 22 had hyperkalaemia), changes in posture/ability to stand could be mainly explained by elevations of K concentrations (P<0.001) and to a lesser extent by increases in L-lactate concentrations (P=0.024). Skeletal muscle weakness due to hyperkalaemia alongside hypovolaemia may produce a clinical picture that is similar to that in calves with marked D-lactic acidosis. However, since reductions in the strength of the palpebral reflex are closely correlated with D-lactate concentrations, a prompt palpebral reflex can assist the clinical prediction of hyperkalaemia in calves presenting with a distinct impairment in their ability to stand (specificity 99%, sensitivity 29%).

  6. Psychiatric disorders in adults with Rubinstein-Taybi syndrome

    SciTech Connect

    Reid, C.S.; Levitas, A.S.

    1994-09-01

    Rubinstein-Taybi syndrome (RTS) is a multiple anomaly/mental retardation syndrome currently mapped to 16p13.3 and characterized by microephaly, hypertelorism, downslanting palpebral fissures, curved nose, elongated nasal columelia and broad thumbs and great toes, often with medial or lateral angulation. Although there are reports of attentional problems and impulsivity among children with RTS there have been no studies to date of behavioral characteristics of the syndrome. Since 1988 we have identified 7 adults with classic RTS and psychiatric disorders among 1500 mentally retarded individuals ascertained primarily for behavioral and psychiatric problems; these patients all had microcephaly, characteristic facies and broad halluces, frequently with angulation. An additional 6 adults with psychiatric disorders had some features suggesting RTS but not classic for the disorder; these patients had microcephaly, characteristic nasal configuration and somewhat broad thumbs but lacked hypertelorism, downslant of palpebral fissures, angulation of halluces, and/or other dysmorphic features typical of classic RTS. Among the seven with classic RTS, three had tic disorder and/or Obsessive Compulsive Disorder, one had Bipolar Disorder with Psychotic Features and one had Major Depressive Disorder with obsessive-compulsive features. The six with some RTS features had similar psychiatric disorders. All patients were extremely sensitive to side effects of antidopaminergic medication, with the exception of clozapine. This clustering of psychiatric disorders and sensitivity suggests possible dysfunction of dopaminergic and serotonergic systems in at least some patients with RTS. The 16p13.3 region should be examined for possible genes affecting metabolism or receptors of these neurotransmitters.

  7. Validation of the facial assessment by computer evaluation (FACE) program for software-aided eyelid measurements.

    PubMed

    Choi, Catherine J; Lefebvre, Daniel R; Yoon, Michael K

    2016-06-01

    The aim of this article is to validate the accuracy of Facial Assessment by Computer Evaluation (FACE) program in eyelid measurements. Sixteen subjects between the ages of 27 and 65 were included with IRB approval. Clinical measurements of upper eyelid margin reflex distance (MRD1) and inter-palpebral fissure (IPF) were obtained. Photographs were then taken with a digital single lens reflex camera with built-in pop-up flash (dSLR-pop) and a dSLR with lens-mounted ring flash (dSLR-ring) with the cameras upright, rotated 90, 180, and 270 degrees. The images were analyzed using both the FACE and ImageJ software to measure MRD1 and IPF.Thirty-two eyes of sixteen subjects were included. Comparison of clinical measurement of MRD1 and IPF with FACE measurements of photos in upright position showed no statistically significant differences for dSLR-pop (MRD1: p = 0.0912, IPF: p = 0.334) and for dSLR-ring (MRD1: p = 0.105, IPF: p = 0.538). One-to-one comparison of MRD1 and IPF measurements in four positions obtained with FACE versus ImageJ for dSLR-pop showed moderate to substantial agreement for MRD1 (intraclass correlation coefficient = 0.534 upright, 0.731 in 90 degree rotation, 0.627 in 180 degree rotation, 0.477 in 270 degree rotation) and substantial to excellent agreement in IPF (ICC = 0.740, 0.859, 0.849, 0.805). In photos taken with dSLR-ring, there was excellent agreement of all MRD1 (ICC = 0.916, 0.932, 0.845, 0.812) and IPF (ICC = 0.937, 0.938, 0.917, 0.888) values. The FACE program is a valid method for measuring margin reflex distance and inter-palpebral fissure.

  8. Regional differences in rat conjunctival ion transport activities

    PubMed Central

    Yu, Dongfang; Thelin, William R.; Rogers, Troy D.; Stutts, M. Jackson; Randell, Scott H.; Grubb, Barbara R.

    2012-01-01

    Active ion transport and coupled osmotic water flow are essential to maintain ocular surface health. We investigated regional differences in the ion transport activities of the rat conjunctivas and compared these activities with those of cornea and lacrimal gland. The epithelial sodium channel (ENaC), sodium/glucose cotransporter 1 (Slc5a1), transmembrane protein 16 (Tmem16a, b, f, and g), cystic fibrosis transmembrane conductance regulator (Cftr), and mucin (Muc4, 5ac, and 5b) mRNA expression was characterized by RT-PCR. ENaC proteins were measured by Western blot. Prespecified regions (palpebral, fornical, and bulbar) of freshly isolated conjunctival tissues and cell cultures were studied electrophysiologically with Ussing chambers. The transepithelial electrical potential difference (PD) of the ocular surface was also measured in vivo. The effect of amiloride and UTP on the tear volume was evaluated in lacrimal gland excised rats. All selected genes were detected but with different expression patterns. We detected αENaC protein in all tissues, βENaC in palpebral and fornical conjunctiva, and γENaC in all tissues except lacrimal glands. Electrophysiological studies of conjunctival tissues and cell cultures identified functional ENaC, SLC5A1, CFTR, and TMEM16. Fornical conjunctiva exhibited the most active ion transport under basal conditions amongst conjunctival regions. PD measurements confirmed functional ENaC-mediated Na+ transport on the ocular surface. Amiloride and UTP increased tear volume in lacrimal gland excised rats. This study demonstrated that the different regions of the conjunctiva exhibited a spectrum of ion transport activities. Understanding the specific functions of distinct regions of the conjunctiva may foster a better understanding of the physiology maintaining hydration of the ocular surface. PMID:22814399

  9. [Air bags and eye injuries: chemical burns and major traumatic ocular lesions--a case study].

    PubMed

    Bendeddouche, K; Assaf, E; Emadisson, H; Forestier, F; Salvanet-Bouccara, A

    2003-10-01

    The authors report a case of bilateral eye lesions with extended visual sequelae after the inflation of a driver's airbag during a head-on collision. The superficial facial lesions were accompanied by bilateral eye lesions, reaching both the anterior and posterior segments. Bilateral periorbital palpebral hematomas; voluminous bipalpebral edema combined with severe -conjunctival edema, corneal erosions, and edema; bilateral hyphema; pupillary changes with multiple iris sphincter breaks and weak pupillary light reflex only on the right eye; retrocession of the iridocorneal angle; and on fundus examination both retinas had posterior and peripheral hemorrhages and Berlin retinal edema. Five years after the trauma and 4 years after posttraumatic surgery for cataract that had progressively appeared on the left eye, the visual acuity is 25/20 in both eyes notwithstanding a small paracentral scotoma related to a break in the Bruch membrane. A review of the literature shows several types of ophthalmological lesions related to the airbag mechanism, which after combustion of an alkaline powder inflates at a very high speed, resulting in a risk of corneal-conjunctive-palpebral alkaline burns added to an eye contusion, which may be responsible for severe lesions. The American studies distinguish three factors affecting the seriousness of these airbag accidents: (a) wearing glasses, (b) position and size of the driver, and (c) inflation force of the airbag. Wearing a seatbelt is mandatory to minimize the violence of the oculofacial impact. After facial trauma from an airbag, an ophthalmological examination is necessary to assess of the chemical burns of the tissues exposed to the alkaline powder and possible major ocular lesions.

  10. Deletion of locus D15S113 in a mother and son without features of Angelman syndrome

    SciTech Connect

    Michaelis, R.C.; Tarleton, J.C.; Donlon, T.A.; Simensen, R.J.

    1994-09-01

    Deletions of the proximal long arm of chromosome 15 result in Angelman syndrome when inherited from the mother and Prader-Willi syndrome when inherited from the father. The minimal critical deletion region for Angelman syndrome has been reported to include D15S74 (B1.5), D15S10 (TD3-21), and D15S113 (LS6-1). We report a mother and son who have deletions that include D15S113 but who do not have features of Angelman syndrome. D.H. is a 10-year-old white male referred for genetic evaluation due to mental retardation. He has mild to moderate mental retardation and minor dysmorphic features, including downslanting palpebral fissures, prominent nose, broad forehead, small chin, midface hypoplasia, and large ears. His mother (B.S.) has slightly downslanting palpebral fissures and a borderline intellectual deficit. Neither individual has the seizures, excessive laughter, hand clapping, ataxia or facial dysmorphism which are characteristic of Angelman syndrome. The linear order of probes mapping to 15q11-q13 is 15cen-D15S11-D15S13-D15S10-D15S113-GABRB3-D15S12-tel. The proximal border of the deletion in our patients lies between D15S10 and D15S113. The fact that these two individuals do not have Angelman syndrome, despite deletion of D15S113, suggests that the Angelman syndrome critical deletion region should be further refined to exclude the D15S113 locus. In addition, the findings of a more severe intellectual impairment in the son than in the mother suggests that the region immediately telomeric to the critical deletion region for Angelman syndrome may contain imprintable genes that influence intellectual function.

  11. TECNOLOGÍAS DE INFORMACIÓN Y COMUNICACIÓN PARA LA PREVENCIÓN Y CONTROL DE LA INFECCIÓN POR EL VIH Y OTRAS ITS*

    PubMed Central

    Curioso, Walter H.; Blas, Magaly M.; Kurth, Ann E.; Klausner, Jeffrey D.

    2010-01-01

    Avances tecnológicos innovadores como Internet, computadoras personales de bolsillo, teléfonos celulares y otros equipos son un arsenal en crecimiento en el esfuerzo de impedir y controlar el VIH y otras infecciones de transmisión sexual (ITS). A pesar que existe una diversidad de tecnologías de información y comunicación en diferentes etapas de desarrollo para la prevención del VIH e ITS, la investigación en esta área se encuentra aún en crecimiento, y el impacto en la incidencia de enfermedad, las evaluaciones con diseños rigurosos y los estudios económicos todavía son muy limitados. Sin embargo, algunas de estas evidencias son prometedoras y poseen un gran potencial para su uso en nuestro medio. En este artículo hemos realizado una revisión sistemática de la literatura relacionada con el uso de la tecnología aplicada a la prevención y control del VIH e ITS. De ser usada apropiadamente, esta tecnología podría mejorar la vigilancia del VIH y otras ITS, diagnóstico, notificación de parejas, prevención, manejo clínico, y capacitación de profesionales de la salud. PMID:26339254

  12. About to Graduate from High School? Consider Career Education Opportunities. EdSource Student/Parent Guide = Estas por graduarte de la escuela preparatoria? Considera oportunidades para seguir tu educacion de carrera. EdSource guia de estudiantes y padres

    ERIC Educational Resources Information Center

    EdSource, 2006

    2006-01-01

    Getting a sound education is important to a student's ability to make a good living in a field they will enjoy. For many students graduating from high school, that includes high quality career technical (or vocational) education tailored to a specific job. In California, such programs are available in a wide range of fields, from healthcare to the…

  13. VISIÓN GENERAL DE LA EVALUACIÓN DEL RIESGO EN SALUD INFANTIL EMPLEANDO UN ENFOQUE POR ETAPAS DE DESARROLLO (American translation is: Overview of a Life Stage Approach to Children's Health Risk Assessment)

    EPA Science Inventory

    Discussing the challenges associated with estimating and interpreting toxicant exposures and health risks from biomonitoring data. This extended abstract was translated in Spanish and published in Acta Toxicologica Argentina.

  14. Ingestion Reiterada de Cuerpos Extranos. Forma Inusual de Presentacion del Sindrome de Munchausen por Poderes (Reiterated Ingestion of Foreign Bodies. Unusual Form of Presentation of Munchausen Syndrome by Proxy).

    ERIC Educational Resources Information Center

    Terreros, I. Gomez de; And Others

    1996-01-01

    An unusual case of Munchausen syndrome by proxy is reported. A mother with a psychiatric record of behavior disorders and family dysfunction perpetrated the ingestion of foreign bodies (for example, earrings, a screw, sewing needles) on a 10-month-old infant with a history of prematurity, repeated visits to emergency rooms, and nonjustified…

  15. Vistazos Intimos De Puebla; Una Compilacion De Informes Individuales Preparados Por Los Participantes Del Instituto De Verano (NDEA) (Close-ups on Puebla; A Compilation of Individual Reports Prepared by the Participants of the NDEA Summer Institute).

    ERIC Educational Resources Information Center

    Wichita State Univ., KS.

    The individual and committee reports on the sociology of Puebla, Mexico, which are collected here, were written by participants in an NDEA Summer Institute program of the University of Wichita, Kansas. The underlying motives of the program, described in the preface, were to provide participants with real language experience and a chance to…

  16. Guiandose por la Intrincada Senda de la Educacion Especial: Una Guia para Padres y Maestros. Tercera Edicion. (Negotiating the Special Education Maze: A Guide for Parents & Teachers. Third Edition).

    ERIC Educational Resources Information Center

    Anderson, Winifred; Chitwood, Stephen; Hayden, Deidre

    Designed to assist Spanish-speaking parents and teachers in understanding special education procedures, this book describes the process for obtaining school services for children with disabilities. An introduction reviews six major provisions of the Individuals with Disabilities Education Act (IDEA) that relate to children's rights to a free,…

  17. Fields without Borders: An Anthology of Documentary Writing and Photography by Student Action with Farmworkers' Interns = Campos sin Fronteras: Una Antologia de Obras Escritas y Fotografia por Estudiantes Internos de Accion Estudiantil con Trabajadores Agricolas.

    ERIC Educational Resources Information Center

    Manly, Libby, Ed.; Okie, Alejandra, Ed.; Wiggins, Melinda, Ed.

    In this booklet, essays and poems, presented both in English and in Spanish, portray the feelings, conditions, and economic plight of migrant and seasonal farmworkers in North and South Carolina, often in their own words. A preface describes Student Action with Farmworkers summer internships in which college students spend 10 weeks working with…

  18. The Latinas' Guide to the Information Superhighway: A Bilingual Guide for Latinas by Latinas = Guia para Mujeres Latinas sobre la Supercarretera de la Informacion: Una Guia Bilingue para Latinas por medio de Latinas.

    ERIC Educational Resources Information Center

    MANA, A National Latina Organization, Washington, DC.

    This guide to the Internet is designed to give Latinas basic information on computers and the information superhighway. Written in both Spanish and English, the guide begins by defining the Internet and making some suggestions about acquiring access to a computer. Among the topics discussed are how to choose an Internet service provider, how to…

  19. John Tracy Clinic: Programa de Ensenanza por Correspondencia para Los Padres de Ninos Sordo-Ciegos de Edad Preescolar (John Tracy Clinic Correspondence Learning Program for Parents of Preschool Deaf-Blind Children).

    ERIC Educational Resources Information Center

    Thielman, Virginia B.; And Others

    Written in Spanish, the document contains a correspondence learning program for parents of deaf blind preschoolers. An introductory section gives preliminary instructions, an introduction to sign language, and a list of resources for deaf blind children. Twelve lessons follow with information on: the parent's role in teaching the child, visual…

  20. Engaging Foreign Language Learners in a Web 2.0-Mediated Collaborative Learning Process (Inclusión de estudiantes de lenguas extranjeras en procesos colaborativos de aprendizaje mediados por la web 2.0)

    ERIC Educational Resources Information Center

    Cote Parra, Gabriel Eduardo

    2015-01-01

    The purpose of this action research was to explore the types of interactions that foreign language learners experience while using a wiki as a supporting tool for a face-to-face research course. This design allowed me to play a dual role: first, I studied my own classroom setting and students. Second, I implemented a pedagogical intervention based…

  1. Dermatitis causada por Hylesia metabus (Lepidoptera: Hemileucidae) en la región costera del Estado del Delta del Amacuro, Venezuela [Dermatitis caused by Hylesia metabus (Lepidoptera: Hemileucidae) in the costal region of the state of Delta Amacuro, Venezuela].

    PubMed

    Rodríguez-Acosta, A; Rubiano, H; Reyes, M; Fernández, C T

    1998-01-01

    2 cases of acute dermatitis caused by butterfly Hylesia metabus in an area that so far has not been considered as endemic for this species were presented. The dermatitis observed in these individuals may be described as very circumscribed, pruriginous, erythematous generalized protruding papules that may be compared with urticaria, and with a variable degree oedema. Monomorphic eruption consisting in small hard papules crowned by a little vesicle was also present. The lesions of these 2 patients evolved with intensely pruriginous papules for a week and after that they healed without dermatological sequelae.

  2. Less and Less for More and More. Economic Organization Booklet 1. Teacher's Edition=Menos y menos por mas y mas. Organizacion economica libro 1. Manual para El Maestro.

    ERIC Educational Resources Information Center

    California State Univ., Los Angeles. National Dissemination and Assessment Center.

    The booklet is part of a grade 10-12 social studies series produced for bilingual education. The series consists of six major thematic modules, with four to five booklets in each. The interdisciplinary modules are based on major ideas and are designed to help students understand some major human problems and make sound, responsive decisions to…

  3. Por Que Mami No Puede Cambiar una Goma? Tercer Modulo de una Serie para Maestros de Escuela Elemental. (Why Can't Mommy Change a Flat Tire? Third Module of a Series for Elementary School Teachers).

    ERIC Educational Resources Information Center

    Molina, Carmen Eneida, Ed.; And Others

    This guide for teachers, in English and Spanish, examines the role parents play in the socialization of sex roles. A pre-test and post test are included to measure the user's awareness of sexual stereotyping. Five object lessons cover the following topics: (1) stereotypes which exist prior to a baby's birth; (2) behavioral standards on which…

  4. Proyecto de Ley por el Cual se Dicta el Estatuto General de Educacion y Pliego de Modificaciones Propuesto (Bill Establishing a General Statute for Education and Explanation of Proposed Modifications).

    ERIC Educational Resources Information Center

    Suarez Villa, Diego

    This document contains the 1971 Colombian education bill and suggested bill modifications. The bill states educational objectives and establishes the structure of the national education system, the organization for educational administration, financing procedures, regulations for educational personnel, and the means for implementing the…

  5. Por Que Rosa No Es Valiente? Cuarto Modulo de una Serie para Maestros de Escuela Elemental (Why Isn't Rosie Brave? Fourth Module of a Series for Elementary School Teachers).

    ERIC Educational Resources Information Center

    Molina, Carmen Eneida, Ed.; And Others

    This guide in English and Spanish provides teachers with methods for identifying textbook bias and stereotyping. A pre-test and post-test designed to measure awareness of textbook stereotypes are included. Four object lessons discuss the function of repetition, cumulative effect, omission, and distortion in reinforcing stereotypes, especially…

  6. Viajando por la Carretera de la Educacion Especial: Una Guia para los Padres para Tener un Viaje Feliz y Seguro (Traveling the Special Education Highway: A Parent's Guide to a Safe and Happy Journey).

    ERIC Educational Resources Information Center

    Santa Maria, Karen

    Designed for Spanish-speaking parents, this brochure, written in Spanish, uses a car-trip analogy to describe special education services for students with disabilities. It addresses: (1) child find; (2) initial evaluation and eligibility determination; (3) categories of students who receive special education services and related services; (4)…

  7. Waved with open eyelids 2 (woe2) is a novel spontaneous mouse mutation in the protein phosphatase 1, regulatory (inhibitor) subunit 13 like (Ppp1r13l) gene

    PubMed Central

    2012-01-01

    Background Waved with open eyelids 2 (woe2) is a novel autosomal recessive mouse mutation that arose spontaneously in our animal facility. Upon initial evaluation, mutant mice exhibited eyelids open at birth (EOB) and wavy fur phenotypes. The goals of this study were to phenotypically characterize the woe2 mice and to identify the gene harboring the mutation responsible for the woe2 phenotype. Results Histological analysis of woe2 embryos identified the failure of embryonic eyelid closure. Clinical and histological analysis of woe2 adult eyes identified severe corneal opacities, abnormalities of the anterior segment of the eye, and the absence of meibomian glands. Abnormalities in the fur texture and the absence of meibomian glands prompted us to evaluate other epidermal appendages: skin, teeth, and nails--as well as lacrimal, mammary, salivary, sebaceous and sweat glands. No obvious morphological differences between WT and woe2 mice were identified in these tissues. However, the analysis of woe2 identified cardiac abnormalities. Positional cloning of the woe2 locus identified a 1308 bp deletion in the Ppp1r13l gene. The deletion resulted in an aberrant Ppp1r13lΔexon9-11 transcript that lacks exons 9, 10 and 11 resulting in a premature stop and a loss of 223 amino acids from the C-terminal end of the putative mutant PPP1R13L protein. Immunohistological analysis during eye development identified expression of PPP1R13L in the palpebral epidermis, palpebral and bulbar conjunctiva, corneal epithelium and meibomian glands. Conclusions The woe2 mouse harbors a novel deletion within the Ppp1r13l gene, likely resulting in a complete loss of PPP1R13L function. Results from this study provide evidence that PPP1R13L has an essential role in embryonic eyelid closure as well in development of meibomian glands and the anterior segment of the eye. The woe2 mice are a useful model for investigation of the role of PPP1R13L, especially during ocular and eyelid development. PMID

  8. Toward laboratory blood test-comparable photometric assessments for anemia in veterinary hematology

    NASA Astrophysics Data System (ADS)

    Kim, Taehoon; Choi, Seung Ho; Lambert-Cheatham, Nathan; Xu, Zhengbin; Kritchevsky, Janice E.; Bertin, Francois-René; Kim, Young L.

    2016-10-01

    Anemia associated with intestinal parasites and malnutrition is the leading cause of morbidity and mortality in small ruminants worldwide. Qualitative scoring of conjunctival redness has been developed so that farmers can gauge anemia in sheep and goats to identify animals that require treatment. For clinically relevant anemia diagnosis, complete blood count-comparable quantitative methods often rely on complicated and expensive optical instruments, requiring detailed spectral information of hemoglobin. We report experimental and numerical results for simple, yet reliable, noninvasive hemoglobin detection that can be correlated with laboratory-based blood hemoglobin testing for anemia diagnosis. In our pilot animal study using calves, we exploit the third eyelid (i.e., palpebral conjunctiva) as an effective sensing site. To further test spectrometer-free (or spectrometerless) hemoglobin assessments, we implement full spectral reconstruction from RGB data and partial least square regression. The unique combination of RGB-based spectral reconstruction and partial least square regression could potentially offer uncomplicated instrumentation and avoid the use of a spectrometer, which is vital for realizing a compact and inexpensive hematology device for quantitative anemia detection in the farm field.

  9. Eosinophilic fasciitis after parasite infection.

    PubMed

    Oliveira, Marta; Patinha, Fabia; Marinho, Antonio

    2016-01-01

    Eosinophilic fasciitis is a systemic inflammatory disease characterized by symmetrical swelling and skin induration of the distal portions of the arms and/or legs, evolving into a scleroderma-like appearance, accompanied by peripheral blood eosinophilia. It is a rare disease with a poorly understood etiology. Corticosteroid treatment remains the standard therapy, either taken alone or in association with an immunosuppressive drug. This paper presents a case of a male patient with palpebral edema and marked eosinophilia, diagnosed with intestinal parasitic infection in October 2006. He was treated with an antiparasitic drug, but both the swelling and the analytical changes remained. This was followed by a skin and muscle biopsy, which turned out to be compatible with eosinophilic fasciitis. There was progressive worsening of the clinical state, with stiffness of the abdominal wall and elevated inflammatory parameters, and the patient was referred to the Immunology Department, medicated with corticosteroids and methotrexate. Over the years there were therapeutic adjustments and other causes were excluded. Currently the patient continues to be monitored, and there is no evidence of active disease. The case described in this article is interesting because of the diagnosis of eosinophilic fasciitis probably associated/coexisting with a parasite infection. This case report differs from others in that there is an uncommon cause associated with the onset of the disease, instead of the common causes such as trauma, medication, non-parasitic infections or cancer.

  10. Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay

    PubMed Central

    Seo, Go Hun; Kim, Ja Hye; Cho, Ja Hyang; Kim, Gu-Hwan; Seo, Eul-Ju; Lee, Beom Hee; Choi, Jin-Ho

    2016-01-01

    Purpose The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the 1p36 deletion syndrome. Methods The clinical characteristics of the 5 patients were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were performed for genetic diagnoses. Results All 5 patients had typical dysmorphic features including frontal bossing, flat right parietal bone, low-set ears, straight eyebrows, down-slanting palpebral fissure, hypotelorism, flat nasal roots, midface hypoplasia, pointed chins, small lips, and variable degrees of developmental delay. Each patient had multiple and variable anomalies such as a congenital heart defect including ventricular septal defect, atrial septal defect, and patent duct arteriosus, ventriculomegaly, cryptorchism, or hearing loss. Karyotyping revealed the 1p36 deletion in only 1 patient, although it was confirmed in all 5 patients by MLPA analyses. Conclusion All the patients had the typical features of 1p36 deletion. These hallmarks can be used to identify other patients with this condition in their early years in order to provide more appropriate care. PMID:26893599

  11. Sudden death in a patient with idiopathic scoliosis.

    PubMed

    Satoh, Fumiko; Fujita, Masaki Q; Seto, Yoshihisa; Tsuboi, Akio; Takeichi, Sanae

    2006-01-01

    We report an autopsy case of sudden death in a 36-year-old craftsman with idiopathic scoliosis. The doctor identified his scoliosis at the age of thirteen, and he was under medical care for three years until he stopped consulting the doctor. He collapsed while walking at the station and was sent to an emergency room in cardiopulmonary arrest state, where he was declared dead in spite of more than an hour of CPR. Numbers of petechiae were seen on the bilateral palpebral conjunctivae and the lips were cyanotic. There were no particular injuries except for small abrasions observed on the face. The back showed right rib hump owing to midthoracic scoliosis (with 73 degrees of Cobb's angle) and right hemithorax was deformed showing an appearance of pectus excavatum in the front. The volume of the right thoracic cavity was significantly decreased. In the right lung, there was extensive stromal fibrosis, leaving almost no normal alveolar structures, and medial hypertrophy of pulmonary arteriolar walls. Hypertrophy of the right heart ventricle due to these pulmonary changes and the congestion of other organs suggested that the cause of death in this case was cor pulmonale due to pulmonary hypertension. This was a rare case of fatal outcome of advanced idiopathic scoliosis without medical care in spite of early detection through mass screening.

  12. Measurement of Tear Production in English Angora and Dutch Rabbits.

    PubMed

    Rajaei, Seyed Mehdi; Rafiee, Siamak Mashhady; Ghaffari, Masoud Selk; Masouleh, Mohammad N; Jamshidian, Mahmoud

    2016-03-01

    The purpose of this study was to establish normal values for tear production tests in different breeds of domestic rabbits. Healthy adult rabbits (n = 60; 120 eyes) of 2 different breeds (English angora and Dutch; n = 15 of each sex and breed) were used in this study. Tear production was measured by using the 1-min Schirmer tear test (STT), phenol red thread test (PRTT), and endodontic absorbent paper point tear test (EAPTT). In addition, horizontal palpebral fissure length was evaluated as a measure of ocular adnexal dimensions. Tear production (mean ± 1 SD) in English angora rabbits was 5.4 ± 1.6 mm/min according to the STT, 25.0 ± 2.7 mm in 15 s for the PRTT, and 18.8 ± 2.1 mm/min by the EAPTT; in Dutch rabbits, these values were 4.6 ± 1.2 mm/min, 23.6 ± 2.3 mm in 15 s, and 16.9 ± 1.7 mm/min, respectively. Only the EAPTT revealed a significant difference in tear production between English Angora and Dutch rabbits. These results provide reference values for tear production in English Angora and Dutch rabbits according to 3 different quantitative tear film assessment methods.

  13. On an acute case of Chagas disease in a region under vector control in the state of São Paulo, Brazil.

    PubMed

    Wanderley, Dalva M V; Rodrigues, Vera L C C; Leite, Ruth Moreira; Diaz, Sueli Yasumaro; de Carvalho, Maria Esther; Santos, Soraya O; Tatto, Erica; Carli, Maria Salete; Coelho, Kunie I R; da Silva, Paulo Ribeiro; Túlio, Sandra Aparecida; da Silva, Isaias Ribeiro; Shikanai-Yasuda, Maria A

    2010-01-01

    No vector transmitted cases of Chagas disease had been notified in the state of São Paulo since the 1970s. However, in March, 2006, the death of a six-year-old boy from the municipality of Itaporanga was notified to the Center for Epidemiological Survey of the São Paulo State Health Secretariat: an autochthonous case of acute Chagas disease. The postmortem histopathological examination performed in the Hospital das Clínicas of the Botucatu School of Medicine confirmed the diagnosis. Reference to hospital records, consultation with the health professionals involved in the case and interviews with members of the patient's family supplied the basis for this study. We investigated parasite route of transmission, probable local reservoirs and vectors. No further human cases of acute Chagas disease were diagnosed. No locally captured vectors or reservoirs were found infected with Trypanosoma cruzi. Alternative transmission hypotheses - such as the possible ingestion of foods contaminated with vector excreta - are discussed, as well as the need to keep previously endemic regions and infested houses under close surveillance. Clinicians should give due attention to such signs as uni- or bilateral palpebral edema, cardiac failure, myocarditis, pericarditis, anasarca and atypical signs of nephrotic syndrome or nephritis and consider the diagnostic hypothesis of Chagas disease.

  14. Fluids of the ocular surface: concepts, functions and physics.

    PubMed

    Cher, Ivan

    2012-08-01

    General adoption of the ocular surface (OS) concept has advanced the therapy of the external eye. Fresh physical findings have prompted new concepts; examples taken from each section of the text are: (i) ever-present lipid sealant bridges the palpebral fissure capping the three-dimensional 'OS' sac. The muco-aqueous pool (MAP) is thus enclosed, secluded from atmosphere, evaporation mitigated. Hence, the OS is conceptually, a compartment. The term 'dacruon' (otherwise 'tear film') has been coined for the combined fluids of the OS, viz. lipid film and MAP. (ii) Investigative techniques of physics yield data on (say) surface tension and viscosity, and on functions such as anchorage of dacruon base to the varied mucosae of the OS, lubrication, renovation of intermarginal fluid layers as the eye opens after each blink, and refinement of optics and vision by the fluids attached to the cornea. (iii) Physical events in the opening eye produce the unique 'black line' phenomenon in which capillary force induces subsurface flows into thirsty menisci, bringing about parameniscal dark grooves, pupil-ward of each meniscus. Attenuation of fluorescein in the shallowed fluid gaps behind each groove makes the dye appear unilluminated ('black lines') relative to adjacent full-thickness MAP fluid glowing under cobalt-blue illumination. Isolated from cornea by grooves and gaps, the meniscal fluid cannot pass freely over the cornea. It therefore streams through the menisci to nasolacrimal outflow.

  15. [Usefulness of extradural optic canal unroofing and decompression of the optic nerve for improvement of visual acuity in traumatic optic neuropathy].

    PubMed

    Nishida, Sho; Otani, Naoki; Inaka, Yasufumi; Morinaga, Yusuke; Kimura, Shohei; Tomura, Satoshi; Osada, Hideo; Harimoto, Kohzou; Takeuchi, Masaru; Wada, Kojiro; Mori, Kentaro

    2014-11-01

    An 81-year-old man presented with poor visual acuity of the left eye, swelling of the left eyelid, and elevation of the left intraocular pressure after contusion of the left palpebral portion. CT revealed left ocular proptosis and left intraorbital hematoma. Traumatic optic neuropathy was suspected, and emergent optic nerve decompression was performed through extradural anterior clinoidectomy followed by optic canal release. Postoperatively, his left visual acuity was markedly improved and the elevated intraocular pressure decreased. Postoperative CT demonstrated improvement of the left ocular proptosis and decompression of the optic nerve. Emergent optic canal release has been recommended in patients who have suffered visual dysfunction caused by optic canal fracture or intraorbital hematoma. The advantages of extradural anterior clinoidectomy followed by optic canal release include a shorter surgical route and easy identification of the optic nerve, resulting in fewer surgical complications. In addition, this procedure can achieve intraorbital decompression. We recommend extradural anterior clinoidectomy followed by optic canal release as a safe and reliable procedure for optic nerve decompression in patients with traumatic optic neuropathy.

  16. A Pilot Study: The Efficacy of Virgin Coconut Oil as Ocular Rewetting Agent on Rabbit Eyes

    PubMed Central

    Mutalib, Haliza Abdul; Kaur, Sharanjeet; Ghazali, Ahmad Rohi; Chinn Hooi, Ng; Safie, Nor Hasanah

    2015-01-01

    Purpose. An open-label pilot study of virgin coconut oil (VCO) was conducted to determine the safety of the agent as ocular rewetting eye drops on rabbits. Methods. Efficacy of the VCO was assessed by measuring NIBUT, anterior eye assessment, corneal staining, pH, and Schirmer value before instillation and at 30 min, 60 min, and two weeks after instillation. Friedman test was used to analyse any changes in all the measurable variables over the period of time. Results. Only conjunctival redness with instillation of saline agent showed significant difference over the period of time (P < 0.05). However, further statistical analysis had shown no significant difference at 30 min, 60 min, and two weeks compared to initial measurement (P > 0.05). There were no changes in the NIBUT, limbal redness, palpebral conjunctiva redness, corneal staining, pH, and Schirmer value over the period of time for each agent (P > 0.05). Conclusion. VCO acts as safe rewetting eye drops as it has shown no significant difference in the measurable parameter compared to commercial brand eye drops and saline. These study data suggest that VCO is safe to be used as ocular rewetting agent on human being. PMID:25802534

  17. The eye of the Barbary sheep or aoudad (Ammotragus lervia): reference values for selected ophthalmic diagnostic tests, morphologic and biometric observations

    PubMed Central

    Fornazari, G.A.; Montiani-Ferreira, F.; Filho, I.R. de Barros; Somma, A.T.; Moore, B.

    2016-01-01

    The purpose of this study was to describe the normal ocular anatomy and establish reference values for ophthalmic tests in the Barbary sheep or aoudad (Ammotragus lervia). Aoudad eyes are large and laterally positioned in the head with several specialized anatomic features attributed to evolutionary adaptations for grazing. Normal values for commonly used ophthalmic tests were established, Schirmer tear test (STT) - 27.22 ± 3.6 mm/min; Predominant ocular surface bacterial microbiota - Staphylococcus sp.; Corneal esthesiometry- 1.3 ± 0.4 cm; Intraocular pressure by rebound tonometry- 19.47 ± 3.9 mmHg; Corneal thickness- 630.07 ± 20.67 µm, B-mode ultrasonography of the globe-axial eye globe length 29.94 ± 0.96 mm, anterior chamber depth 5.03 ± 0.17 mm, lens thickness 9.4 ± 0.33 mm, vitreous chamber depth 14.1 ± 0.53 mm; Corneal diameter-horizontal corneal diameter 25.05 ± 2.18 mm, vertical corneal diameter 17.95 ± 1.68 mm; Horizontal palpebral fissure length- 34.8 ± 3.12 mm. Knowledge of these normal anatomic variations, biometric findings and normal parameters for ocular diagnostic tests may assist veterinary ophthalmologists in the diagnosis of ocular diseases in this and other similar species. PMID:27419103

  18. Efficacy and safety of lodoxamide 0.1% vs cromolyn sodium 4% in patients with vernal keratoconjunctivitis.

    PubMed

    Caldwell, D R; Verin, P; Hartwich-Young, R; Meyer, S M; Drake, M M

    1992-06-15

    A multicenter, double-masked, parallel-group clinical study compared the efficacy and safety of lodoxamide 0.1% ophthalmic solution and cromolyn sodium 4% ophthalmic solution in 120 patients with vernal keratoconjunctivitis. On various follow-up visits, the clinical efficacy of lodoxamide 0.1% was statistically superior to cromolyn sodium 4% in alleviating four of the primary symptoms (itching, tearing, foreign-body sensation, and discomfort) and five of the primary signs (Trantas' dots, palpebral conjunctival changes, bulbar conjunctival hyperemia, erythema/swelling of the eyelids and periorbital tissues, and epithelial disease). At no time during the study was cromolyn sodium 4% statistically superior to lodoxamide 0.1% in demonstrating improvements in clinical signs and symptoms of vernal keratoconjunctivitis. The physician's clinical judgment of patients' response to treatment showed lodoxamide 0.1% effected a greater and earlier improvement than cromolyn sodium 4%. Both drugs were safe for topical ophthalmic use when used four times daily for up to 28 days.

  19. Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome?

    PubMed Central

    Stern, H J; Saal, H M; Lee, J S; Fain, P R; Goldgar, D E; Rosenbaum, K N; Barker, D F

    1992-01-01

    Detailed clinical, ophthalmological, and molecular studies were performed on a multigeneration family in which there were many subjects with type 1 neurofibromatosis, a common autosomal dominant disorder. Affected family members displayed a wide range of clinical findings including, in two subjects, features seen in Noonan syndrome (triangular facies, downward slanting palpebral fissures, micrognathia, short stature, and learning disability). Subjects have been described previously whose features have overlapped with neurofibromatosis and Noonan syndrome, and it has been suggested that these persons might represent a separate condition. DNA haplotype analysis showed linkage of the neurofibromatosis phenotype seen in this family to the proximal long arm of chromosome 17 in the region where the type 1 neurofibromatosis gene has been mapped. These results imply that the Noonan phenotype seen in some patients with type 1 neurofibromatosis might be the result of variable or variant expression of the neurofibromatosis gene on chromosome 17. The possible role of non-specific factors, such as fetal hypotonia, in producing the neurofibromatosis-Noonan phenotype needs further investigation. The availability of closely linked and intragenic molecular markers for neurofibromatosis could potentially be useful in the diagnosis and characterisation of patients and families with atypical forms of neurofibromatosis. Images PMID:1348094

  20. A natural history of a child with monosomy 5p syndrome (Cat-cry/Cri-du-chat syndrome) during the 18 years of follow-up.

    PubMed

    Posmyk, R; Panasiuk, B; Yatsenko, S A; Stankiewicz, P; Midro, A T

    2005-01-01

    A record of a natural history of a long-term case study devoted to monosomy 5p (Cat-cry/Cri-du-chat) syndrome has been described rarely. Knowledge on the range of the changes in phenotype attributable to advancing age can be useful in clinical diagnosis of monosomy 5p at the different developmental stages, including adolescence, as well in prognosis for genetic counseling. In this case a detailed analysis of the morphologic phenotype in a girl with del(5)(p13.3) observed from 4 months to 18 years of age is reported. The comparative analysis of the girl's phenotype in different developmental stages has revealed that microcephaly, flat occipital region, face asymmetry, wide spaced palpebral fissures, epicanthic folds, small mouth fissure, thin mucous lip, small and low set ears and short IV metacarpals has not changed with advancing age. However, facial asymmetry was more evident, frontal tubers were less prominent, nasal root and back became prominent nasal back became elongated, the subnasal region was shorter and marked malocclusion appeared.

  1. Fortuitous FISH diagnosis of an interstitial microdeletion (5)(q31.1q31.2) in a girl suspected to present a cri-du-chat syndrome.

    PubMed

    Mosca, A L; Callier, P; Leheup, B; Marle, N; Jalloul, M; Coffinet, L; Feillet, F; Valduga, M; Jonveaux, P; Mugneret, F

    2007-06-15

    Constitutional interstitial deletions of 5q are relatively rare and most are poorly characterized cytogenetically. Consequently a definite karyotype-phenotype correlation is difficult to establish. We report on a new case of a girl presenting with an abnormal cry, upslanting palpebral fissures, hypertelorism, anteverted nostrils, microretrognathia, growth retardation, and an adenoid cyst at the base of the tongue. The first suspected diagnosis was cri-du-chat syndrome because of the mewing cry. Standard cytogenetic analyses were interpreted as normal, but FISH studies using the probe of cri-du-chat syndrome with the control probe EGR1 (5q31.2)/D5S23 (Abbott) revealed a 5q31.2 microdeletion which was then confirmed by CGH-array (Abbott). FISH studies using PACs and BACs clones (Rocchi, Italia) enabled us to characterize the breakpoints of the deleted region. Cytogenetic analysis with FISH studies revealed a normal karyotype with normal 5q31 region in both parents. This case is compared with the other cases reported in the literature.

  2. PARK2 Microduplication: Clinical and Molecular Characterization of a Further Case and Review of the Literature.

    PubMed

    Palumbo, Orazio; Palumbo, Pietro; Leone, Maria P; Stallone, Raffaella; Palladino, Teresa; Vendemiale, Marcella; Palladino, Stefano; Papadia, Francesco; Carella, Massimo; Fischetto, Rira

    2016-10-01

    We report on a patient with psychomotor deficits, language delay, dyspraxia, skeletal anomalies, and facial dysmorphisms (hirsutism, right palpebral ptosis, a bulbous nasal tip with enlarged and anteverted nares, and a mild prominent antihelix stem). Using high-resolution SNP array analysis, we identified a 0.49-Mb microduplication in chromosome 6q26 inherited from the mother involving the PARK2 gene: arr[hg19] 6q26(162,672,821-163,163,143)×3 mat. To the best of our knowledge, this is the third patient to date described in whom a 6q26 microduplication encompassing only the PARK2 gene has been reported in medical literature. The PARK2 gene is a neurodevelopmental gene that was initially discovered as one of the causes of autosomal recessive juvenile Parkinson disease and subsequently reported to be linked to autism spectrum disorders and attention-deficit hyperactivity disorders. We provide an overview of the literature on PARK2 microduplications and further delineate the associated phenotype. Taken together, our findings confirm the involvement of this gene in neurodevelopmental disorders and are useful to strengthen the hypothesis that, although with variable expressivity and incomplete penetrance, the PARK2 microduplication is associated with a new emerging neurodevelopmental delay syndrome. However, clinical and molecular evaluations of more patients with the microduplication are needed for full delineation of this syndrome.

  3. Constitutional Mosaic Trisomy 13 in Two Germ Cell Layers is Different from Patau Syndrome? A Case Report.

    PubMed

    Kunwar, Fulesh; Pandya, Vidhi; Bakshi, Sonal R

    2016-03-01

    The heterogeneous phenotype of known syndromes is a clinical challenge, and harmonized description using globally accepted ontology is desirable. This report attempts phenotypic analysis in a patient of constitutional mosaic trisomy 13 in mesoderm and ectoderm to make globally comparable clinical description. Phenotypic features (minor/major abnormalities) were recorded and matched with the Human Phenotype Ontology terms that were used to query web-based tool Phenomizer. We report here a case of 24-year-old girl born to non consanguineous parents with history of one abortion. Her phenotypic evaluation included short columella, low-set ears, seizures, enlarged naris, bifid tongue, infra-orbital fold, smooth philtrum, microtia, microcephaly, carious teeth, downslanted palpebral fissures, proportionate short stature, high palate, thin upper lip vermilion, small for gestational age, broad fingertip, broad hallux, mandibular prognathia and dental malocclusion. Karyotype and interphase FISH (Fluorescence in situ hybridization) was done in blood cells. Interphase FISH was also performed on buccal epithelial cells. Cytogenetic analysis demonstrated trisomy 13 mosaicism in 25% cells i.e. 47, XX,+13(9)/46,XX(27). The interphase FISH in blood cells showed trisomy 13 in 15%, whereas in buccal mucosa cells showed nearly 6%. Mosaic aneuploidy in constitutional karyotype can be responsible for variation in clinical and morphological presentation of patient with genetic disorder.

  4. De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.

    PubMed

    Kuroda, Yukiko; Ohashi, Ikuko; Tominaga, Makiko; Saito, Toshiyuki; Nagai, Jun-Ichi; Ida, Kazumi; Naruto, Takuya; Masuno, Mitsuo; Kurosawa, Kenji

    2014-06-01

    17p13.1 Deletion encompassing TP53 has been described as a syndrome characterized by intellectual disability and dysmorphic features. Only one case with a 17p13.1 duplication encompassing TP53 has been reported in a patient with intellectual disability, seizures, obesity, and diabetes mellitus. Here, we present a patient with a 17p13.1 duplication who exhibited obesity and intellectual disability, similar to the previous report. The 9-year-old proposita was referred for the evaluation of intellectual disability and obesity. She also exhibited insulin resistance and liver dysfunction. She had wide palpebral fissures, upturned nostrils, a long mandible, short and slender fingers, and skin hyperpigmentation. Array comparative genomic hybridization (array CGH) detected a 3.2 Mb duplication of 17p13.1-p13.2 encompassing TP53, FXR2, NLGN2, and SLC2A4, which encodes the insulin-responsive glucose transporter 4 (GLUT4) associated with insulin-stimulated glucose uptake in adipocytes and muscle. We suggest that 17p13.1 duplication may represent a clinically recognizable condition characterized partially by a characteristic facial phenotype, developmental delay, and obesity.

  5. Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.

    PubMed

    Kuroda, Yukiko; Ohashi, Ikuko; Naruto, Takuya; Ida, Kazumi; Enomoto, Yumi; Saito, Toshiyuki; Nagai, Jun-Ichi; Wada, Takahito; Kurosawa, Kenji

    2015-06-01

    Next-generation sequencing has enabled the screening for a causative mutation in X-linked intellectual disability (XLID). We identified KIAA2022 mutations in two unrelated male patients by targeted sequencing. We selected 13 Japanese male patients with severe intellectual disability (ID), including four sibling patients and nine sporadic patients. Two of thirteen had a KIAA2022 mutation. Patient 1 was a 3-year-old boy. He had severe ID with autistic behavior and hypotonia. Patient 2 was a 5-year-old boy. He also had severe ID with autistic behavior, hypotonia, central hypothyroidism, and steroid-dependent nephrotic syndrome. Both patients revealed consistent distinctive features, including upswept hair, narrow forehead, downslanting eyebrows, wide palpebral fissures, long nose, hypoplastic alae nasi, open mouth, and large ears. De novo KIAA2022 mutations (p.Q705X in Patient 1, p.R322X in Patient 2) were detected by targeted sequencing and confirmed by Sanger sequencing. KIAA2022 mutations and alterations have been reported in only four families with nonsyndromic ID and epilepsy. KIAA2022 is highly expressed in the fetal and adult brain and plays a crucial role in neuronal development. These additional patients support the evidence that KIAA2022 is a causative gene for XLID.

  6. The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings.

    PubMed

    Dentici, Maria Lisa; Mingarelli, Rita; Dallapiccola, Bruno

    2011-03-01

    Blepharophimosis-mental retardation syndromes (BMRS) include a group of clinically and etiologically heterogeneous conditions, which can occur as isolated features or as part of distinct disorders displaying multiple congenital anomalies. We report on two siblings, a 6-year-old girl and an 18-month-old male, presenting with overlapping clinical findings. Major characteristics included facial dysmorphisms with upward slanted palpebral fissures, blepharophimosis, telecanthus, hypertelorism, posteriorly rotated and abnormal ears, and micrognathia. Ectodermal abnormalities consisted of fine hair, sparse eyebrows, and thin skin. Both patients had feeding difficulties with gastro-esophageal reflux and growth retardation. Psychomotor skills were severely delayed with no verbal capacity. The male sib also displayed low growth hormone (GH) levels, while the older sister had low cholesterol and mildly elevated TSH levels. Numerous metabolic/genetic investigations, including cholesterol precursors, dosage, and high-resolution array-CGH, were negative. BMR syndromes, including Dubowitz syndrome, Marden-Walker syndrome, Ohdo/Ohdo-like syndromes, and the cholesterol storage disorders were considered. We concluded that these two patients are affected by a possible autosomal recessive condition within the heterogeneous clinical spectrum of BMRS, fitting with the Young-Simpson syndrome subtype.

  7. Protracted Hypofractionated Radiotherapy for Graves' Ophthalmopathy: A Pilot Study of Clinical and Radiologic Response

    SciTech Connect

    Casimiro de Deus Cardoso, Cejana; Giordani, Adelmo Jose; Borri Wolosker, Angela Maria; Souhami, Luis; Gois Manso, Paulo; Souza Dias, Rodrigo; Comodo Segreto, Helena Regina; Araujo Segreto, Roberto

    2012-03-01

    Purpose: To evaluate the clinical and radiologic response of patients with Graves' ophthalmopathy given low-dose orbital radiotherapy (RT) with a protracted fractionation. Methods and Materials: Eighteen patients (36 orbits) received orbital RT with a total dose of 10 Gy, fractionated in 1 Gy once a week over 10 weeks. Of these, 9 patients received steroid therapy as well. Patients were evaluated clinically and radiologically at 6 months after treatment. Clinical response assessment was carried out using three criteria: by physical examination, by a modified clinical activity score, and by a verbal questionnaire considering the 10 most common signs and symptoms of the disease. Radiologic response was assessed by magnetic resonance imaging. Results: Improvement in ocular pain, palpebral edema, visual acuity, and ocular motility was observed in all patients. Significant decrease in symptoms such as tearing (p < 0.001) diplopia (p = 0.008), conjunctival hyperemia (p = 0.002), and ocular grittiness (p = 0.031) also occurred. Magnetic resonance imaging showed decrease in ocular muscle thickness and in the intensity of the T2 sequence signal in the majority of patients. Treatments were well tolerated, and to date no complications from treatment have been observed. There was no statistical difference in clinical and radiologic response between patients receiving RT alone and those receiving RT plus steroid therapy. Conclusion: RT delivered in at a low dose and in a protracted scheme should be considered as a useful therapeutic option for patients with Graves' ophthalmopathy.

  8. A Child with Kabuki Syndrome and Autism Spectrum Disorder

    PubMed Central

    SERTÇELİK, Mehmet; UĞUR, Çağatay; ŞAHİN AKÖZEL, Aynur; GÜRKAN, Cihat Kağan

    2016-01-01

    Kabuki syndrome (KS) is characterized by skeletal abnormalities, short stature, characteristic facial features, postnatal growth delay, and mental retardation. There are only a few case reports that present the coexistence of KS with autism spectrum disorder (ASD) in the literature. Herein we present the case of a boy with KS and ASD and discuss the possible shared etiologies. A 4-year-old boy was brought by his parents with complaints of no speech, hyperactivity, enuresis complex, temper tantrum, self-injury, and harming people or objects. We determined the lack of speech and eye contact, stereotypical behavior, and impaired social interaction and diagnosed him with autism and severe mental retardation via a psychiatric assessment. He had been followed up by pediatricians until he was 2 years old. Pediatricians noted his long eyelids with eversion of the lateral third of the lower eyelid, depressed nasal tip, short stature, long palpebral fissures, brachydactyly, and fetal finger pads in their physical examination. The boy who has an operated ventral septal defect and seizures was diagnosed with KS when he was 5 years old. We recommended his parents to apply to a special education agency and kindergarten for him. Our case is a new example of the coexistence of KS and ASD in addition to the very few cases in the literature. Genetic analyses conducted in the existence of specific genetic syndromes, such as KS, may provide opportunities for understanding the genetic etiology of ASD and new scope in terms of novel treatment approaches. PMID:28373809

  9. A Korean Family with the Muenke Syndrome

    PubMed Central

    Yu, Jae Eun; Park, Dong Ha

    2010-01-01

    The Muenke syndrome (MS) is characterized by unicoronal or bicoronal craniosynostosis, midfacial hypoplasia, ocular hypertelorism, and a variety of minor abnormalities associated with a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. The birth prevalence is approximately one in 10,000 live births, accounting for 8-10% of patients with coronal synostosis. Although MS is a relatively common diagnosis in patients with craniosynostosis syndromes, with autosomal dominant inheritance, there has been no report of MS, in an affected Korean family with typical cephalo-facial morphology that has been confirmed by molecular studies. Here, we report a familial case of MS in a female patient with a Pro250Arg mutation in exon 7 (IgII-IGIII linker domain) of the FGFR3 gene. This patient had mild midfacial hypoplasia, hypertelorism, downslanting palpebral fissures, a beak shaped nose, plagio-brachycephaly, and mild neurodevelopmental delay. The same mutation was confirmed in the patient's mother, two of the mother's sisters and the maternal grandfather. The severity of the cephalo-facial anomalies was variable among these family members. PMID:20592905

  10. A Korean family with the Muenke syndrome.

    PubMed

    Yu, Jae Eun; Park, Dong Ha; Yoon, Soo Han

    2010-07-01

    The Muenke syndrome (MS) is characterized by unicoronal or bicoronal craniosynostosis, midfacial hypoplasia, ocular hypertelorism, and a variety of minor abnormalities associated with a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. The birth prevalence is approximately one in 10,000 live births, accounting for 8-10% of patients with coronal synostosis. Although MS is a relatively common diagnosis in patients with craniosynostosis syndromes, with autosomal dominant inheritance, there has been no report of MS, in an affected Korean family with typical cephalo-facial morphology that has been confirmed by molecular studies. Here, we report a familial case of MS in a female patient with a Pro250Arg mutation in exon 7 (IgII-IGIII linker domain) of the FGFR3 gene. This patient had mild midfacial hypoplasia, hypertelorism, downslanting palpebral fissures, a beak shaped nose, plagio-brachycephaly, and mild neurodevelopmental delay. The same mutation was confirmed in the patient's mother, two of the mother's sisters and the maternal grandfather. The severity of the cephalo-facial anomalies was variable among these family members.

  11. Coexistent mosaic monosomy 21 and fragile X syndrome in a mentally retarded male patient.

    PubMed

    Utine, G E; Aktas, D; Boduroğlu, K; Alikasifoğlu, M; Tunçbilek, E

    2007-01-01

    Fragile X syndrome (FXS) is a well-recognized mental retardation syndrome with characteristic facial features and behavioural phenotype. Monosomy 21 is a rare cytogenetic aberration for which clinical features were incompletely defined since full monosomy 21 is incompatible with life. A 5-year-old male patient with FXS and low-grade mosaicism for full monosomy 21 (46,XY[96%]/45,XY,-21[4%]) is presented. He had lack of speech and severely impaired social skills, hyperactivity, stereotypical hand movements, a special interest towards moving colourful items and a short attention span for other objects around. He had macrocephaly, a rather long face, prominent occiput and prominent midface, retrognathia, down-slanting palpebral fissures, hypertelorism and cup-shaped, posteriorly rotated and low-set ears. Full monosomy in the aberrant cell line was proven by whole chromosome painting. FXS was previously reported to accompany sex chromosome aneuploidies; however, to the best of our knowledge, the present patient is the first FXS patient with an aberration involving autosomes. He contributes to the current knowledge on monosomy 21 phenotype, having dysmorphic facial findings despite the concurrent phenotypic expression of the FXS. As a last conclusion, cytogenetic analysis must be done to all mentally retarded patients with minor dysmorphic features.

  12. Functional study on a novel missense mutation of the transcription factor FOXL2 causes blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).

    PubMed

    Fan, Jia-Yan; Han, Bing; Qiao, Jie; Liu, Bing-Li; Ji, Yong-Rong; Ge, Sheng-Fang; Song, Huai-Dong; Fan, Xian-Qun

    2011-03-01

    Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease caused by FOXL2 gene mutations. However, only one missense mutation has been found in family with BPES type I. Here, we report a novel missense mutation in the forkhead domain of the FOXL2 gene (c.340A > G, NM_023067) resulted in the replacement of lysine by glutamic acid at amino acid position 114 of the FOXL2 protein (p.K114E, NP_075555) that was identified in a Chinese family with BPES type I, members of which displayed clinical symptoms such as shortened palpebral fissures, drooping eyelids, a vertical skin fold arising from the lower eyelid, and premature ovarian failure (POF) in affected females. Based on the patients' clinical features and computational analysis of this missense mutation in a three-dimensional structural model, we hypothesised that the mutation might disturb the intermolecular contacts between FOXL2 and the StAR gene. The disturbance of this interaction might contribute to the POF observed in BPES type I patients. We performed subcellular localisation and functional studies and as expected, observed significant nuclear aggregation and cytoplasmic mislocalization of the mutant type protein and loss-of-function was confirmed by electrophoretic mobility shift assays, transcriptional activity assays and quantitative real-time polymerase chain reaction. This functional study on a novel missense mutation has important implications for the molecular analysis of this gene.

  13. Etiology of craniofacial malformations in mouse models of blepharophimosis, ptosis and epicanthus inversus syndrome.

    PubMed

    Heude, Églantine; Bellessort, Brice; Fontaine, Anastasia; Hamazaki, Manatsu; Treier, Anna-Corina; Treier, Mathias; Levi, Giovanni; Narboux-Nême, Nicolas

    2015-03-15

    Blepharophimosis, ptosis, epicanthus-inversus syndrome (BPES) is an autosomal dominant genetic disorder characterized by narrow palpebral fissures and eyelid levator muscle defects. BPES is often associated to premature ovarian insufficiency (BPES type I). FOXL2, a member of the forkhead transcription factor family, is the only gene known to be mutated in BPES. Foxl2 is essential for maintenance of ovarian identity, but the developmental origin of the facial malformations of BPES remains, so far, unexplained. In this study, we provide the first detailed account of the developmental processes leading to the craniofacial malformations associated to Foxl2. We show that, during development, Foxl2 is expressed both by Cranial Neural Crest Cells (CNCCs) and by Cranial Mesodermal Cells (CMCs), which give rise to skeletal (CNCCs and CMCs) and muscular (CMCs) components of the head. Using mice in which Foxl2 is selectively inactivated in either CNCCs or CMCs, we reveal that expression of Foxl2 in CNCCs is essential for the development of extraocular muscles. Indeed, inactivation of Foxl2 in CMCs has only minor effects on muscle development, whereas its inactivation in CNCCs provokes a severe hypoplasia of the levator palpabrae superioris and of the superior and inferior oblique muscles. We further show that Foxl2 deletion in either CNCCs or CMCs prevents eyelid closure and induces subtle skeletal developmental defects. Our results provide new insights in the complex developmental origin of human BPES and could help to understand the origin of other ocular anomalies associated to this syndrome.

  14. A piggyBac insertion disrupts Foxl2 expression that mimics BPES syndrome in mice.

    PubMed

    Shi, Fubiao; Ding, Sheng; Zhao, Shimin; Han, Min; Zhuang, Yuan; Xu, Tian; Wu, Xiaohui

    2014-07-15

    Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is an autosomal dominant genetic disorder characterized by small palpebral fissures and other craniofacial malformations, often with (type I) but could also without (type II) premature ovarian failure. While mutations of the forkhead transcription factor FOXL2 are associated with and likely be responsible for many BPES cases, how FOXL2 affects craniofacial development remain to be understood. Through a large-scale piggyBac (PB) insertion mutagenesis, we have identified a mouse mutant carrying a PB insertion ∼160 kb upstream of the transcription start site (TSS) of Foxl2. The insertion reduces, but not eliminates, the expression of Foxl2. This mutant, but not its revertant, displays BPES-like conditions such as midface hypoplasia, eyelid abnormalities and female subfertility. Further analysis indicates that the mutation does not affect mandible, but causes premature fusion of the premaxilla-maxilla suture, smaller premaxilla and malformed maxilla during midface development. We further identified an evolutionarily conserved fragment near the insertion site and observed enhancer activity of this element in tissue culture cells. Analyses using DNase I hypersensitivity assay and chromosome conformation capture assay in developing maxillary and periocular tissues suggest that the DNA region near the insertion site likely interacts with Foxl2 TSS. Therefore, this mutant presents an excellent animal model for mechanistic study of BPES and regulation of Foxl2.

  15. A new red-eyed treefrog of Agalychnis (Anura: Hylidae: Phyllomedusinae) from middle Magdalena River valley of Colombia with comments on its phylogenetic position.

    PubMed

    Rivera-Correa, Mauricio; Duarte-Cubides, Felipe; Rueda-Almonacid, José Vicente; Daza, Juan M

    2013-01-01

    We describe a new species of the charismatic red-eyed treefrogs (genus Agalychnis) from middle Magdalena River valley of Colombia (05°50'8.04"N, 74°50'16.55"W, 380 m a.s.l.). The new species is readily distinguished from all species members of the group by having orange flanks with small white warts. Phylogenetic analysis of DNA sequences of 16S rRNA gene recovered the new species as a member of the Agalychnis callidryas group. The presence of a red hue in the iris and a golden reticulated palpebral membrane, putative synapomorphies of the clade, support this hypothesis. Our analysis suggests that Agalychnis terranova sp. nov is closely related to A. callidryas from Central America and is proposed as its sister species with an uncorrected genetic distance of 5.69% between these taxa. The phylogenetic position and the geographic distribution of the new taxon add new lights to the presence of a biogeographic disjunction between Middle America lowlands, the Pacific region and Magdalena River valley of Colombia.

  16. Neurofibromatosis: an update of ophthalmic characteristics and applications of optical coherence tomography

    PubMed Central

    Abdolrahimzadeh, Barmak; Piraino, Domenica Carmen; Albanese, Giorgio; Cruciani, Filippo; Rahimi, Siavash

    2016-01-01

    Neurofibromatosis (NF) is a multisystem disorder and tumor predisposition syndrome caused by genetic mutation on chromosome 17-17q11.2 in NF type 1 (NF1), and on chromosome 22-22q12.2 in NF type 2. The disorder is characterized by considerable heterogeneity of clinical expression. NF1 is the form with the most characteristic ocular manifestations. Lisch nodules of the iris are among the well-known diagnostic criteria for the disease. Glaucoma and associated globe enlargement have been described in a significant proportion of patients with NF1 and orbital–facial involvement. Optic nerve glioma may cause strabismus and proptosis, and palpebral neurofibroma may reach considerable size and occasionally show malignant transformation. Near infrared reflectance has greatly contributed to enhancing our knowledge on choroidal alterations in NF1. Indeed, some authors have proposed to include these among the diagnostic criteria. Optical coherence tomography has given new insight on retinal alterations and is a noninvasive tool in the management of optic nerve gliomas in children. Ocular manifestations in NF type 2 can range from early-onset cataracts in up to 80% of cases to optic nerve hamartomas and combined pigment epithelial and retinal hamartomas. PMID:27257370

  17. [Diabetic mother's newborn with Goldenhar syndrome and cerebral malformations. Case report].

    PubMed

    Kerckoff Villanueva, Hugo; Retamoza, Beatriz; Bautista, Armando

    2008-11-01

    Goldenhar syndrome, also known as oculo-auriculo-vertebral syndrome, is a rare illness with unknown etiology. It happens in 1 of 50,000 newborns and is characterized by first and second brachial arch changes, with variable grades of hemifacial hypoplasia. We report a clinical case of a 39-years-old woman with a BMI of 33, family history of diabetes mellitus decease, and two fetal losses with unknown etiology. We first met patient at 24 gestational weeks. Second level ultrasound findings were: fetus with tri-ventricular obstructive hydrocephalia, symmetrical macrocranium, and occipital encephalocele. As her capilar glycaemia level was 197 to 338 mg/dL, diagnosis was gestational diabetes. Patient was scheduled to cesarian section and we obtain a newborn with: 2,050 g of weight, 45 cm of height, 38 cm of cephalic diameter, 6/7 Apgar score, and 33 gestational weeks (Capurro). Obesity and 2-type diabetes are well-known fetal malformation etiologies, due to insulin resistance. Maternal hyperglycemia causes oxidative stress in embryo cells, it changes Pax3 gene path, and causes several chromosomopaties and malformations; main perinatal mortality etiology, among them, are neural tube alterations. All together enable to establish this Goldenhar diagnosis: palpebral coloboma, facial asymmetry, external ear, upper hemivertebra, and microphthalmy.

  18. Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene.

    PubMed

    Gripp, Karen W; Hopkins, Elizabeth; Johnston, Jennifer J; Krause, Caitlin; Dobyns, William B; Biesecker, Leslie G

    2011-10-01

    TARP syndrome, comprising Talipes equinovarus, atrial septal defect (ASD), Robin sequence (micrognathia, glossoptosis, and cleft palate), and persistence of the left superior vena cava, is an X-linked condition with pre- or postnatal lethality in affected males. Based on linkage studies and massively parallel sequencing of X-chromosome exons in two families, the disease-causing gene was identified as RBM10. We identified a maternally inherited frameshift mutation in an unrelated patient, confirming RBM10 as the disease gene. This is the first reported individual with TARP syndrome who survived past early infancy, thus expanding the phenotypic spectrum of this disorder. In addition to the characteristic cleft palate, ASD, and persistent superior vena cava, he had low-set and posteriorly angulated ears, upslanting palpebral fissures, cryptorchidism, and structural brain abnormalities including partial agenesis of the corpus callosum, dysplastic enlarged caudate, and cerebellar hypoplasia with megacisterna magna. Preterm delivery, suspected pulmonary hypoplasia, and pulmonary hypertension resulted in chronic lung disease. At the age of 3(7)/(12) years, he remained ventilator-dependent at night, and he was fed exclusively through a gastro-jejunal tube. Sensorineural hearing loss required a hearing aid. Optic atrophy and cortical visual impairment were noted. He was unable to sit independently, was non-communicative and he had severe intellectual disability. Atrial flutter required recurrent ablation of intra-atrial re-entry pathways. The mother's heterozygosity for the RBM10 mutation underscored the importance of accurate diagnosis and counseling for TARP syndrome.

  19. A gene prenature ovarian failure associated with eyelid malformation maps to chromosomes 3q22-q23

    SciTech Connect

    1996-05-01

    Premature ovarian failure and XX gonadal dysgenesis leading to female infertility have been reported in association with an autosomal dominantly inherited malformation of the eyelids: blepharophimosis-ptosis-epicanthus inversus syndrome (BPES; MIM 110100). This association distinguishes BPES type I from BPES type II, in which affected females are fertile and the transmission occurs through both sexes. Recently, a gene responsible for BPES type II has been mapped to chromosome 3q22-q23, and the critical region for the gene location has been reduced to the interval between loci D3S1615 and D3S1316. Hitherto, however, no information regarding the localization of the gene for BPES type I, in which female ovarian failure is associated with eyelid malformation, has been available. We have studied two independent families affected with BPES type I, including a total of 12 affected individuals (6 infertile women) and 6 healthy relatives. The diagnostic criteria for the ophthalmological anomaly included (1) reduced horizontal diameter of palpebral fissures, (2) drooping of the upper eyelids, and (3) an abnormal skinfold running from the lower lids. Telecanthus and a flat nasal bridge were present in most cases. In both families the disease was transmitted only by the male, and no affected woman of childbearing age was fertile. 12 refs., 2 figs., 1 tab.

  20. [The history of facial paralysis].

    PubMed

    Glicenstein, J

    2015-10-01

    Facial paralysis has been a recognized condition since Antiquity, and was mentionned by Hippocratus. In the 17th century, in 1687, the Dutch physician Stalpart Van der Wiel rendered a detailed observation. It was, however, Charles Bell who, in 1821, provided the description that specified the role of the facial nerve. Facial nerve surgery began at the end of the 19th century. Three different techniques were used successively: nerve anastomosis, (XI-VII Balance 1895, XII-VII, Korte 1903), myoplasties (Lexer 1908), and suspensions (Stein 1913). Bunnell successfully accomplished the first direct facial nerve repair in the temporal bone, in 1927, and in 1932 Balance and Duel experimented with nerve grafts. Thanks to progress in microsurgical techniques, the first faciofacial anastomosis was realized in 1970 (Smith, Scaramella), and an account of the first microneurovascular muscle transfer published in 1976 by Harii. Treatment of the eyelid paralysis was at the origin of numerous operations beginning in the 1960s; including palpebral spring (Morel Fatio 1962) silicone sling (Arion 1972), upperlid loading with gold plate (Illig 1968), magnets (Muhlbauer 1973) and transfacial nerve grafts (Anderl 1973). By the end of the 20th century, surgeons had at their disposal a wide range of valid techniques for facial nerve surgery, including modernized versions of older techniques.

  1. A review of the physical features of the fetal alcohol spectrum disorders.

    PubMed

    Del Campo, Miguel; Jones, Kenneth Lyons

    2017-01-01

    The fetal alcohol spectrum of disorders (FASD) includes four diagnostic categories for the clinical consequences of prenatal alcohol exposure (PAE) in the unborn child. Physical features are necessary for the diagnosis of the fetal alcohol syndrome (FAS) and partial pFAS. Moreover, these features are specific and a diagnosis of FAS can be made even in the absence of knowledge of PAE. Not only growth deficits, microcephaly and the 3 facial features (short palpebral fissures, smooth philtrum and narrow vermillion of the upper lip) are characteristic, since other dysmorphic features particularly in the hands are key to the recognition of FAS. Most features can be explained by the damage to the brain during pregnancy and can be replicated in animal models. Many different diagnostic guidelines are used for the diagnosis of FASD and the physical features are considered differently in each of them. There is a need for universal clinical criteria for the diagnosis of FASD if our goal is to favor universal recognition.

  2. Reference values for the production of the aqueous fraction of the tear film measured by the standardized endodontic absorbent paper point test in different exotic and laboratory animal species.

    PubMed

    Lange, Rogério R; Lima, Leandro; Przydzimirski, Andreise C; Montiani-Ferreira, Fabiano

    2014-01-01

    The aqueous fraction of the tear film and the horizontal palpebral fissure length (HPFL) were measured in exotic and laboratory animals, specifically saffron finches (Sicalis flaveola), chestnut-bellied seed-finches (Sporophila angolensis), red-eared sliders (Trachemys scripta elegans), rats (Rattus norvegicus) and mice (Mus musculus). These species possess small eyes making it difficult to perform the typical Schirmer tear test. Measurement of the aqueous fraction of the tear was performed using the standardized endodontic absorbent paper point tear test (PPTT), accomplished with manual restraint by a single operator. The following results were obtained: saffron finches (n = 42)-HPFL (4.46 ± 0.09 mm) and PPTT (5.10 ± 0.26 mm); chestnut-bellied seed-finches (n = 38)-HPFL (4.77 ± 0.05 mm) and PPTT (4.11 ± 0.34 mm); red-eared sliders (n = 56)-HPFL (8.59 ± 0.08 mm) and PPTT (8.79 ± 0.38 mm); rats (n = 60)-HPFL (6.45 ± 0.09 mm) and PTT (6.18 ± 2.06 mm); and mice (n = 22)-HPFL (3.59 ± 0.27 mm) and PPTT (4.39 ± 1.45 mm).

  3. Measurement of tear production using phenol red thread and standardized endodontic absorbent paper points in European pond turtles (Emys orbicularis).

    PubMed

    Rajaei, Seyed Mehdi; Mood, Maneli Ansari; Ghaffari, Masoud Selk; Williams, David L

    2014-12-01

    The objective of this study was to determine the aqueous fraction of the tear film using the phenol red thread test (PRTT) and paper point tear test (PPTT) in healthy adult European pond turtles (Emys orbicularis). Twenty-four healthy adult European pond turtles were studied. Measurement of tear secretion was performed using the PRTT and standardized endodontic absorbent PPTT. Horizontal palpebral fissure length (HPFL) was measured using digital calipers and was correlated with the weight of the animal. The mean ± SD PRTT, PPTT, and HPFL values for the left and right eyes were 5.12 ± 1.54 mm/15 sec and 4.62 ± 1.76 mm/15 sec; 4.50 ± 1.25 mm/1 min and 4.20 ± 1.53 mm/1 min; and 8.4 ± 0.6 mm and 8.3 ± 0.6 mm, respectively. No significant differences were detected between right and left eyes of individual turtles or between males and females in all tests. This study represents reference values of tear production in European pond turtles obtained from PRTT and PPTT methods and forms an important baseline study in defining the healthy chelonian ocular surface.

  4. Chromosome Breakage Hotspots and Delineation of the Critical Region for the 9p-Deletion Syndrome

    PubMed Central

    Christ, Laurie A.; Crowe, Carol A.; Micale, Mark A.; Conroy, Jeffrey M.; Schwartz, Stuart

    1999-01-01

    Summary The clinical features of the 9p-deletion syndrome include dysmorphic facial features (trigonocephaly, midface hypoplasia, upward-slanting palpebral fissures, and a long philtrum) and mental retardation. The majority of these patients appear to have similar cytogenetic breakpoints in 9p22, but some cases show phenotypic heterogeneity. To define the breakpoints of the deleted chromosomes, we studied 24 patients with a deletion of 9p, by high-resolution cytogenetics, FISH with 19 YACs, and PCR using 25 different sequence-tagged sites. Of 10 different breakpoints identified, 9 were localized within an ∼5-Mb region, in 9p22-p23, that encompasses the interval between D9S1869 (telomeric) and D9S162 (centromeric). Eight unrelated patients had a breakpoint (group 1) in the same interval, between D9S274 (948h1) and D9S285 (767f2), suggesting a chromosome-breakage hotspot. Among 12 patients, seven different breakpoints (groups 3–9) were localized to a 2-Mb genomic region between D9S1709 and D9S162, which identified a breakpoint-cluster region. The critical region for the 9p-deletion syndrome maps to a 4–6-Mb region in 9p22-p23. The results from this study have provided insight into both the heterogeneous nature of the breakage in this deletion syndrome and the resultant phenotype-karyotype correlations. PMID:10521304

  5. A rare sex chromosome aneuploidy: 48,XXYY syndrome.

    PubMed

    Atik, Tahir; Çoğulu, Özgür; Özkınay, Ferda

    2016-06-01

    48,XXYY syndrome is a rare sex chromosome abnormality. Although some physical features are similar to Klinefelter syndrome(47,XXY), 48,XXYY is typically associated with different neuropsyhciatric symptoms and phenotypic findings. Approximately 100 cases with 48,XXYY have been reported to date. In this report, a patient who was diagnosed with 48,XXYY syndrome with clincal evaluation and cytogenetic analysis is presented. A 6-year old male patient was hospitalized due to recurrent respiratory tract infections, recurrent abdominal distention and dyspepsia. He was the first and only child of nonconsanguineous parents. He had a history of mild developmental retardation. In his history, it was learned that he received treatment for gastroesophageal reflux and his symptoms improved with treatment. On physical examination, his weight was found to be 31 kg (>97 centile) and his height was found to be 123 cm (90 centile). He had upslanted palpebral fissures, depressed nasal bridge, long philtrum, incomplete cleft lip and micrognathia. Clinodactilia was found in the fifth fingers in both hands and large big toes and adduction in the second and third toes were found in both feet. Karyotype analysis showed a chromosomal composition of 48,XXYY. The patient presented here is the second Turkish case of 48,XXYY syndrome.

  6. A rare sex chromosome aneuploidy: 48,XXYY syndrome

    PubMed Central

    Atik, Tahir; Çoğulu, Özgür; Özkınay, Ferda

    2016-01-01

    48,XXYY syndrome is a rare sex chromosome abnormality. Although some physical features are similar to Klinefelter syndrome(47,XXY), 48,XXYY is typically associated with different neuropsyhciatric symptoms and phenotypic findings. Approximately 100 cases with 48,XXYY have been reported to date. In this report, a patient who was diagnosed with 48,XXYY syndrome with clincal evaluation and cytogenetic analysis is presented. A 6-year old male patient was hospitalized due to recurrent respiratory tract infections, recurrent abdominal distention and dyspepsia. He was the first and only child of nonconsanguineous parents. He had a history of mild developmental retardation. In his history, it was learned that he received treatment for gastroesophageal reflux and his symptoms improved with treatment. On physical examination, his weight was found to be 31 kg (>97 centile) and his height was found to be 123 cm (90 centile). He had upslanted palpebral fissures, depressed nasal bridge, long philtrum, incomplete cleft lip and micrognathia. Clinodactilia was found in the fifth fingers in both hands and large big toes and adduction in the second and third toes were found in both feet. Karyotype analysis showed a chromosomal composition of 48,XXYY. The patient presented here is the second Turkish case of 48,XXYY syndrome. PMID:27489468

  7. Constitutional Mosaic Trisomy 13 in Two Germ Cell Layers is Different from Patau Syndrome? A Case Report

    PubMed Central

    Kunwar, Fulesh; Pandya, Vidhi

    2016-01-01

    The heterogeneous phenotype of known syndromes is a clinical challenge, and harmonized description using globally accepted ontology is desirable. This report attempts phenotypic analysis in a patient of constitutional mosaic trisomy 13 in mesoderm and ectoderm to make globally comparable clinical description. Phenotypic features (minor/major abnormalities) were recorded and matched with the Human Phenotype Ontology terms that were used to query web-based tool Phenomizer. We report here a case of 24-year-old girl born to non consanguineous parents with history of one abortion. Her phenotypic evaluation included short columella, low-set ears, seizures, enlarged naris, bifid tongue, infra-orbital fold, smooth philtrum, microtia, microcephaly, carious teeth, downslanted palpebral fissures, proportionate short stature, high palate, thin upper lip vermilion, small for gestational age, broad fingertip, broad hallux, mandibular prognathia and dental malocclusion. Karyotype and interphase FISH (Fluorescence in situ hybridization) was done in blood cells. Interphase FISH was also performed on buccal epithelial cells. Cytogenetic analysis demonstrated trisomy 13 mosaicism in 25% cells i.e. 47, XX,+13(9)/46,XX(27). The interphase FISH in blood cells showed trisomy 13 in 15%, whereas in buccal mucosa cells showed nearly 6%. Mosaic aneuploidy in constitutional karyotype can be responsible for variation in clinical and morphological presentation of patient with genetic disorder. PMID:27134897

  8. Optimization and validation of an existing, surgical and robust dry eye rat model for the evaluation of therapeutic compounds.

    PubMed

    Joossen, Cedric; Lanckacker, Ellen; Zakaria, Nadia; Koppen, Carina; Joossens, Jurgen; Cools, Nathalie; De Meester, Ingrid; Lambeir, Anne-Marie; Delputte, Peter; Maes, Louis; Cos, Paul

    2016-05-01

    The aim of this research was to optimize and validate an animal model for dry eye, adopting clinically relevant evaluation parameters. Dry eye was induced in female Wistar rats by surgical removal of the exorbital lacrimal gland. The clinical manifestations of dry eye were evaluated by tear volume measurements, corneal fluorescein staining, cytokine measurements in tear fluid, MMP-9 mRNA expression and CD3(+) cell infiltration in the conjunctiva. The animal model was validated by treatment with Restasis(®) (4 weeks) and commercial dexamethasone eye drops (2 weeks). Removal of the exorbital lacrimal gland resulted in 50% decrease in tear volume and a gradual increase in corneal fluorescein staining. Elevated levels of TNF-α and IL-1α have been registered in tear fluid together with an increase in CD3(+) cells in the palpebral conjunctiva when compared to control animals. Additionally, an increase in MMP-9 mRNA expression was recorded in conjunctival tissue. Reference treatment with Restasis(®) and dexamethasone eye drops had a positive effect on all evaluation parameters, except on tear volume. This rat dry eye model was validated extensively and judged appropriate for the evaluation of novel compounds and therapeutic preparations for dry eye disease.

  9. Comparable Low-Level Mosaicism in Affected and Non Affected Tissue of a Complex CDH Patient

    PubMed Central

    Veenma, Danielle; Beurskens, Niels; Douben, Hannie; Eussen, Bert; Noomen, Petra; Govaerts, Lutgarde; Grijseels, Els; Lequin, Maarten; de Krijger, Ronald; Tibboel, Dick; de Klein, Annelies; Van Opstal, Dian

    2010-01-01

    In this paper we present the detailed clinical and cytogenetic analysis of a prenatally detected complex Congenital Diaphragmatic Hernia (CDH) patient with a mosaic unbalanced translocation (5;12). High-resolution whole genome SNP array confirmed a low-level mosaicism (20%) in uncultured cells, underlining the value of array technology for identification studies. Subsequently, targeted Fluorescence In-Situ Hybridization in postmortem collected tissues demonstrated a similar low-level mosaicism, independently of the affected status of the tissue. Thus, a higher incidence of the genetic aberration in affected organs as lung and diaphragm cannot explain the severe phenotype of this complex CDH patient. Comparison with other described chromosome 5p and 12p anomalies indicated that half of the features presented in our patient (including the diaphragm defect) could be attributed to both chromosomal areas. In contrast, a few features such as the palpebral downslant, the broad nasal bridge, the micrognathia, microcephaly, abnormal dermatoglyphics and IUGR better fitted the 5p associated syndromes only. This study underlines the fact that low-level mosaicism can be associated with severe birth defects including CDH. The contribution of mosaicism to human diseases and specifically to congenital anomalies and spontaneous abortions becomes more and more accepted, although its phenotypic consequences are poorly described phenomena leading to counseling issues. Therefore, thorough follow–up of mosaic aberrations such as presented here is indicated in order to provide genetic counselors a more evidence based prediction of fetal prognosis in the future. PMID:21203572

  10. A pilot study: the efficacy of virgin coconut oil as ocular rewetting agent on rabbit eyes.

    PubMed

    Mutalib, Haliza Abdul; Kaur, Sharanjeet; Ghazali, Ahmad Rohi; Chinn Hooi, Ng; Safie, Nor Hasanah

    2015-01-01

    Purpose. An open-label pilot study of virgin coconut oil (VCO) was conducted to determine the safety of the agent as ocular rewetting eye drops on rabbits. Methods. Efficacy of the VCO was assessed by measuring NIBUT, anterior eye assessment, corneal staining, pH, and Schirmer value before instillation and at 30 min, 60 min, and two weeks after instillation. Friedman test was used to analyse any changes in all the measurable variables over the period of time. Results. Only conjunctival redness with instillation of saline agent showed significant difference over the period of time (P < 0.05). However, further statistical analysis had shown no significant difference at 30 min, 60 min, and two weeks compared to initial measurement (P > 0.05). There were no changes in the NIBUT, limbal redness, palpebral conjunctiva redness, corneal staining, pH, and Schirmer value over the period of time for each agent (P > 0.05). Conclusion. VCO acts as safe rewetting eye drops as it has shown no significant difference in the measurable parameter compared to commercial brand eye drops and saline. These study data suggest that VCO is safe to be used as ocular rewetting agent on human being.

  11. Cat eye syndrome

    PubMed Central

    Sharma, Deepak; Murki, Srinivas; Pratap, Tejo; Vasikarla, Madhavi

    2014-01-01

    A full-term female baby, a product of non-consanguineous marriage, was born at 37 weeks of gestation with a birth weight of 2.08 kg. Antenatal scan at 31 weeks revealed complex congenital heart disease with a hypoplastic right ventricle, pulmonary atresia and an intact septum. Immediately after birth, the infant was shifted to the nursery and was started on intravenous fluids and infusion prostaglandin E1 (Alprostidil). On examination, she had microcephaly, periorbital puffiness, a long philtrum, a broad nasal bridge and retrognathia, up slanting palpebral fissures, widely spaced nipples, a sacral dimple and right upper limb postaxial polydactyly. Postnatal echocardiography confirmed a large ostium secundum atrial septal defect with left to right shunt, right ventricle hypoplasia, pulmonary atresia with an intact septum and a large vertical patent ductus arteriosus. Ophthalmological examination showed a bilateral chorioretinal coloboma sparing disc and fovea. Karyotyping showed an extra small marker chromosome suggestive of the Cat eye syndrome. PMID:24842361

  12. Study of two patients with craniosynostosis and deletions of 11q: One with features of Saethre-Chotzen syndrome and the other with concomitant partial trisomy 4q

    SciTech Connect

    Morsey, S. |; Lewanda, A.F. |; Reid, C.S.

    1994-09-01

    Partial monosomy 11q is associated with metopic craniosynostosis and trigonocephaly. Prominant features in the over 30 reported cases include downslanting palpebral fissures, epicanthal folds, hypertelorism, ptosis, wide/depressed nasal bridge, low set malformed ears, downturned mouth, micro/retrognathia, digital and cardiac anomalies and psychomotor retardation. We evaluated two patients referred for abnormal head shape. The first carried a diagnosis of Saethre-Chotzen syndrome due to brachycephaly, facial asymmetry, ptosis, cupped ears, sundactyly of 2nd and 3rd digits, developmental delay, and VSD. Karyotype revealed 46,XY,del(11)(q24.1{yields}qter). No abnormality was noted of chromosome 7p, where the Saethre-Chotzen syndrome locus has been mapped. This suggests genetic heterogeneity for this condition. The second patient had no prior diagnosis. He had trigonocephaly, bilateral cryptorchidism and inguinal hernias. He also had hypotelorism, epicanthal folds, synophrys, posteriorly rotated ears, horizontal crease below his lower lip, unilateral single palmar crease, mild soft tissue syndactyly and a shawl scrotum. His karyotype of 46,XY,-11,+der(11)t(4;11)(q31.3;q25) revealed both partial 11q monosomy and partial 4q trisomy (the latter associated with cryptorchidism, horizontal chin crease and single palmar crease). Deletions of 11q appear to produce a wide spectrum of defects, which may even mimic other known craniosynostotic conditions. Study of these patients may lead to the identification of new genes involved in craniofacial morphogenesis.

  13. Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the NSD1 gene.

    PubMed

    Kotilainen, Johanna; Pohjola, Pia; Pirinen, Sinikka; Arte, Sirpa; Nieminen, Pekka

    2009-11-01

    The major diagnostic manifestations in Sotos syndrome include frontal bossing, downward slanting palpebral fissures, a prominent jaw, learning disability, and childhood overgrowth. Over 90% of clinically diagnosed patients have an abnormality in the NSD1 gene. We investigated the dental manifestations of this disorder and found one or several premolar teeth were absent in 9 out of 13 (69%) affected children and adolescents. A heterozygous mutation in the NSD1 gene was identified in 12 patients, including all patients with hypodontia. The severity of the hypodontia seemed to increase with the severity of aberration of the NSD1. More than 50% of the patients had enamel defects or excessive tooth wear. Dental age, based on tooth formation, was within the normal range. A characteristic occlusion for Sotos syndrome could not be identified. As agenesis of premolars was a common feature in these patients affected with Sotos syndrome, we recommend panoramic radiography at the age of 7 years. If premolars are missing, proper preventive and restorative care is necessary to maintain the deciduous molars.

  14. Immediate reaction to lidocaine with periorbital edema during upper blepharoplasty

    PubMed Central

    Presman, Benjamin; Vindigni, Vincenzo; Tocco-Tussardi, Ilaria

    2016-01-01

    Introduction Blepharoplasty is the fourth most commonly performed cosmetic surgery in the US, with 207,000 operations in 2014. Lidocaine is the preferred anesthetic agent for blepharoplasty. Presentation of case We describe the unusual case of acute periorbital edema following local anesthesia with lidocaine for upper blepharoplasty. At present, only two other reports of periorbital reactions to lidocaine are present in the literature. The reactions observed are significant palpebral swelling and erythema with scaling of the cheek. Fortunately the swelling, although marked, is transient in nature and resolves almost spontaneously without affecting the visual acuity. Discussion Patients reporting adverse reactions should be screened for allergy according to the standard protocols, but skin testing has only been reported to be positive in less than 10% of all cases and allergy confirmation with IgE is even more rare. Conclusion In clinical practice, we recommend that patient should be informed about the possibility of recurrence of an adverse reaction in case of re-exposure to lidocaine, even in the vast majority of cases where true allergy could not be proven. In case of further need for local anesthesia with history of an adverse event, a different agent may be chosen even from the same class (another amide) as cross-reactions in the amide group are rare. Otherwise, an anesthetic from the ester group can also be safely used. PMID:26785079

  15. Congenital orbital encephalocele, orbital dystopia, and exophthalmos.

    PubMed

    Hwang, Kun; Kim, Han Joon

    2012-07-01

    We present here an exceedingly rare variant of a nonmidline basal encephalocele of the spheno-orbital type, and this was accompanied with orbital dystopia in a 56-year-old man. On examination, his left eye was located more inferolaterally than his right eye, and the patient said this had been this way since his birth. The protrusion of his left eye was aggravated when he is tired. His naked visual acuity was 0.7/0.3, and the ocular pressure was 14/12 mm Hg. The exophthalmometry was 10/14 to 16 mm. His eyeball motion was not restricted, yet diplopia was present in all directions. The distance from the midline to the medial canthus was 20/15 mm. The distance from the midline to the midpupillary line was 35/22 mm. The vertical dimension of the palpebral fissure was 12/9 mm. The height difference of the upper eyelid margin was 11 mm, and the height difference of the lower eyelid margin was 8 mm. Facial computed tomography and magnetic resonance imaging showed left sphenoid wing hypoplasia and herniation of the left anterior temporal pole and dura mater into the orbit, and this resulted into left exophthalmos and encephalomalacia in the left anterior temporal pole. To the best of our knowledge, our case is the second case of basal encephalocele and orbital dystopia.

  16. Craniofacial abnormalities among patients with Edwards Syndrome

    PubMed Central

    Rosa, Rafael Fabiano M.; Rosa, Rosana Cardoso M.; Lorenzen, Marina Boff; Zen, Paulo Ricardo G.; Graziadio, Carla; Paskulin, Giorgio Adriano

    2013-01-01

    OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES). METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%). Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%), abnormalities of the ear helix/dysplastic ears (70%), prominent occiput (52%), posteriorly rotated (46%) and low set ears (44%), and short palpebral fissures/blepharophimosis (46%). Other uncommon - but relevant - abnormalities included: microtia (18%), orofacial clefts (12%), preauricular tags (10%), facial palsy (4%), encephalocele (4%), absence of external auditory canal (2%) and asymmetric face (2%). One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature. PMID:24142310

  17. Fluorescent in situ hybridization (FISH) and high resolution karyotype analysis reveal a novel inversion duplication of 10q

    SciTech Connect

    Czarnecki, P.; Dyke, D.L. Van; Dowling, P.K.

    1994-09-01

    A white male born with dysmorphic features, including upslanting palpebral fissures, bilateral simian creases, posteriorly rotated ears, bitemporal narrowing, frontal bossing, camptodactyly and head circumference and weight less than the 5th percentile was found to have a de novo add(10)(q26.1). High resolution karyotype analysis revealed a novel chromosomal abnormality: 46,XY,inv dup(10)(q26.3-q25.1). Fluorescent in situ hybridization using a chromosome 10-specific painting probe (Oncor, Inc.) confirmed that the extra material was derived from chromosome 10. Duplication of 10q24 or 10q25 is associated with characteristic craniofacial malformations, minor malformations of the hands and feet, major malformations of the heart, skeleton, and kidneys and severe mental retardation. Our patient, currently 7 months old, has many of the skeletal and craniofacial manifestations of other patients, but is developmentally normal at this early age. This is the first FISH confirmation of a 10q duplication and demonstrates the utility of this technology in addition to karyotype analysis. Molecular studies to determine the parental origin and extent of the duplication are in progress, since the apparent lack of developmental delay was unexpected. Identification of the origin of duplicated material will help assist in genetic counseling by further delineating new genetic syndromes.

  18. Reconstruction of the lacrimal excretory system.

    PubMed

    Huang, T T; Sasaki, K; Nozaki, M

    1992-09-01

    Primary surgical repair of the lacrimal drainage apparatus may not be feasible in patients with maxillofacial injuries involving extensive structural damage. If secondary restoration of the tear duct is not possible, reconstruction of an aberrant passage then will be necessary for tear drainage. Although the Pyrex conjunctivorhinostomy has been considered to be the most effective modality of treatment in managing patients with tear-duct dysfunction, this procedure can be plagued with problems of tube dislodgment, infection, and cicatricial tract obliteration. The patients are, furthermore, required to wear the device for the remainder of their lives. Autologous material is therefore best suited for reconstructing a conduit. A medially based mucosal flap fashioned in the lower palpebral conjunctiva, 5 mm in anteroposterior dimension and 15 mm in horizontal length, can be used to form a conduit. This is then sutured to a flap mobilized from the nasal cavity, the lacrimal sac, or the maxillary antrum. In the past 15 years, a total of 24 fistulous tracts utilizing this technique were reconstructed in 20 patients with tear-duct obstruction. The experience accumulated from managing this group of patients forms the basis of this report.

  19. A new species of lizard Placosoma Tschudi, 1847 (Squamata: Gymnophthalmidae) from the relictual forest mountains of the State of Ceará, Brazil.

    PubMed

    Borges-Nojosa, Diva Maria; Caramaschi, Ulisses; Rodrigues, Miguel Trefaut

    2016-09-19

    A new species of Placosoma Tschudi, 1847, until now restricted to the Atlantic Forest areas of southeastern Brazil is        described based on specimens obtained about 1700 km north to the current distribution of the genus. Placosoma limaverdorum spec. nov. is apparently endemic to three "brejos-de-altitude", relictual forest mountains surrounded by dry Caatingas, in the State of Ceará, northeastern Brazil. It differs from their congeners by the presence of an undivided transparent palpebral disk, a divided nasal scale with a central nostril, a deep tympanic recess, a distinctive and thin light vertebral stripe on the dorsal surface of the head, body and tail, femoral pores present only in males (21-26), preanal pores absent and additionally by having 21-24 rows of transverse ventral scales, 34-38 dorsals, dorsal, lateral and ventral scales smooth, dorsal scales quadrangular, longer than wide, except in the neck region, where they are wider than long.

  20. Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.

    PubMed

    Kariminejad, Ariana; Ajeawung, Norbert Fonya; Bozorgmehr, Bita; Dionne-Laporte, Alexandre; Molidperee, Sirinart; Najafi, Kimia; Gibbs, Richard A; Lee, Brendan H; Hennekam, Raoul C; Campeau, Philippe M

    2017-04-01

    Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial morphology, low cholesterol levels and intellectual disability. We describe a child with microcephaly, brachycephaly, hearing loss, ptosis, blepharophimosis, hypertelorism, cleft palate, multiple renal cysts, absent nails, small or absent terminal phalanges, absent speech and intellectual disability. Syndromes that were initially considered include DOORS syndrome, Coffin-Siris syndrome and Dubowitz syndrome. Clinical investigations coupled with karyotype analysis, array-comparative genomic hybridization, exome and Sanger sequencing were performed to characterize the condition in this child. Sanger sequencing was negative for the DOORS syndrome gene TBC1D24 but exome sequencing identified a homozygous deletion in UBE3B (NM_183415:c.3139_3141del, p.1047_1047del) located within the terminal portion of the HECT domain. This finding coupled with the presence of characteristic features such as brachycephaly, ptosis, blepharophimosis, hypertelorism, short palpebral fissures, cleft palate and developmental delay allowed us to make a diagnosis of KOS. In conclusion, our findings highlight the importance of considering KOS as a differential diagnosis for patients under evaluation for DOORS syndrome and expand the phenotype of KOS to include small or absent terminal phalanges, nails, and the presence of hallux varus and multicystic dysplastic kidneys.

  1. Caerulein and morphine: an attempt to differentiate their antinociceptive effects.

    PubMed

    Zetler, G

    1982-01-01

    The antinociceptive effect in mice (hot-plate test) of caerulein (0.15 mg/kg s.c.) was many times more resistant to naloxone than that of morphine (2 mg/kg s.c., equipotent with the caerulein dose). The ED50 (mg/kg s.c.) of naloxone (given simultaneously with an agonist) was with morphine 0.01 and with caerulein 0.07. When administered intravenously after the agonist, the ED50 (mg/kg i.v.) against morphine was 0.012 and that against caerulein was 0.62. In either type of experiment the dose-response lines of naloxone against caerulein were very shallow as compared with those against morphine. A caerulein dose of 5 micrograms/kg enhanced the antinociceptive effect of morphine only when given before morphine, but not when given after it. The limited additivity of the effects together with the different susceptibility to naloxone of the antinociceptive actions indirectly suggest that caerulein and morphine do not share the same mechanism of action. Palpebral ptosis occurred only after caerulein and was completely resistant to naloxone 8 mg/kg s.c.

  2. Upper eyelid necrosis and reconstruction after spider byte: case report and review of the literature.

    PubMed

    Ribuffo, D; Serratore, F; Famiglietti, M; Greco, M; Fois, F; Atzori, L; Pau, M; Aste, N

    2012-03-01

    Spider bites are not very common, especially in the Mediterranean area, and those affecting the ocular-palpebral region involving reconstructive surgery are particularly rare. In May 2010, the case of a Caucasian 24-year-old female patient was brought to the attention of the Dermatology Department, University of Cagliari, Italy. The patient reported she woke up feeling an intense pain with itching and that also she had noticed a spider of an unknown species on her bed. The dermatosis had affected the right orbital region, where there was a considerable red and violet erythema and a hard edema, not foldable. When the necrosis appeared the patient was treated at the Plastic Surgery Unit where she underwent a reconstruction of the eyelid with a full thickness skin graft from the retroauricular area. The post-operative course was regular with a perfect in-take of the skin graft. When the patient was discharged she was sent to an Entomological University Centre to identify the spider species and the possible venom which caused the skin lesion. The spider which caused the injury has been a Loxosceles rufescens (Dufour, 1820). Loxoscelism is a necrotic arachnoidism caused by the poisonous bite of spiders belonging to the Loxosceles species. It is very important to identify what sort of lesion it is and to treat it in a combined way in order to choose the proper timing for surgery to avoid damages to the eyelid functioning.

  3. Cat eye syndrome.

    PubMed

    Sharma, Deepak; Murki, Srinivas; Pratap, Tejo; Vasikarla, Madhavi

    2014-05-19

    A full-term female baby, a product of non-consanguineous marriage, was born at 37 weeks of gestation with a birth weight of 2.08 kg. Antenatal scan at 31 weeks revealed complex congenital heart disease with a hypoplastic right ventricle, pulmonary atresia and an intact septum. Immediately after birth, the infant was shifted to the nursery and was started on intravenous fluids and infusion prostaglandin E1 (Alprostidil). On examination, she had microcephaly, periorbital puffiness, a long philtrum, a broad nasal bridge and retrognathia, up slanting palpebral fissures, widely spaced nipples, a sacral dimple and right upper limb postaxial polydactyly. Postnatal echocardiography confirmed a large ostium secundum atrial septal defect with left to right shunt, right ventricle hypoplasia, pulmonary atresia with an intact septum and a large vertical patent ductus arteriosus. Ophthalmological examination showed a bilateral chorioretinal coloboma sparing disc and fovea. Karyotyping showed an extra small marker chromosome suggestive of the Cat eye syndrome.

  4. Tetrasomy 21 pter {yields} q22.1 and Down syndrome: Molecular definition of the region

    SciTech Connect

    Daumer-Haas, C.; Schuffenhauer, S.; Walther, J.U.; Portsmann, T.; Korenberg, J.R.; Schipper, R.D.

    1994-12-01

    Down syndrome is usually caused by complete trisomy 21. Rarely, it is due to partial trisomy of the segment 21q22. We report on a 33-month-old girl with tetrasomy 21 pter {yields} q22.1 resulting from an extra chromosome idic(21)(q22.1). She has craniofacial traits typical of Down syndrome, including brachycephaly, third fontanel, upward slanting palpebral fissures, round face, and protruding tongue. Speech development is quite delayed whereas motor development is only mildly retarded. The molecular content of the extra isodicentric chromosome was defined by molecular genetic investigations using 13 single copy probes unique to chromosome 21, and SOD1 expression studies. The child was found to have 4 copies of the region defined by D21S16 (21cen) through D21S93 on 21q22.1 and two copies of the remaining region defined by SOD1 {yields} D21S55 {yields} D21S123. In view of the recent assignment of Down syndrome facial characters to the 21q22 region, defined in part by D21S55, it is significant that this child shows a subset of Down syndrome facial manifestations, without duplication of this region. These results suggest that genes contributing to the facial and some of the hand manifestations of Down syndrome also exist in the chromosomal region proximal to D21S55 in band 21q22.1. 34 refs., 6 figs., 3 tabs.

  5. Histological and Ultrastructural Studies on the Conjunctiva of the Barred Owl (Strix varia)

    PubMed Central

    Jochems, Brian; Phillips, Thomas E.

    2015-01-01

    This report is the first characterization of the histology and ultrastructure of the barred owl conjunctiva. The inferior eyelid was dominated by a large disk-shaped plate covered by a non-keratinized stratified squamous or cuboidal epithelium of variable thickness. The apical surface of the plate epithelium varied from flat to long microvilli or even short cytoplasmic extensions similar to those seen in the third eyelid. All specimens had a few goblet cells filled with mucous secretory granules in the plate region. The underlying connective tissue was a dense fibroelastic stroma. Eosinophils were surprisingly common in the epithelial layer and underlying connective tissue in the plate and more distal orbital mucosal region. The orbital mucosa contained goblet cells with heterogeneous glycosylation patterns. The leading edge and marginal plait of the third eyelid are designed to collect fluid and particulate matter as they sweep across the surface of the eye. The palpebral conjunctival surface of the third eyelid was covered by an approximately five-cell-deep stratified squamous epithelium without goblet cells. The bulbar surface of the third eyelid was a bilayer of epithelial cells whose superficial cells have elaborate cytoplasmic tapering extensions reaching out 25 μm. Narrow cytofilia radiated outwards up to an additional 15–20 μm from the cytoplasmic extensions. Lectin labeling demonstrated heterogeneous glycosylation of the apical membrane specializations but only small amounts of glycoprotein-filled secretory granules in the third eyelid. PMID:26562834

  6. Genotype–Phenotype Correlation of Congenital Anomalies in Multiple Congenital Anomalies Hypotonia Seizures Syndrome (MCAHS1)/ PIGN-Related Epilepsy

    PubMed Central

    Fleming, Leah; Lemmon, Monica; Beck, Natalie; Johnson, Maria; Mu, Weiyi; Murdock, David; Bodurtha, Joann; Hoover-Fong, Julie; Cohn, Ronald; Bosemani, Thangamadhan; Barañano, Kristin; Hamosh, Ada

    2016-01-01

    Mutations in PIGN, resulting in multiple congenital anomalies-hypotonia-seizures syndrome, a glycosylphosphatidylinositol anchor deficiency, have been published in four families to date. We report four patients from three unrelated families with epilepsy and hypotonia in whom whole exome sequencing yielded compound heterozygous variants in PIGN. As with previous reports Patients 1 and 2 (full siblings) have severe global developmental delay, gastroesophageal reflux disease, and minor dysmorphic features, including high palate, bitemporal narrowing, depressed nasal bridge, and micrognathia; Patient 3 had early global developmental delay with later progressive spastic quadriparesis, intellectual disability, and intractable generalized epilepsy; Patient 4 had bilateral narrowing as well but differed by the presence of hypertelorism, markedly narrow palpebral fissures, and long philtrum, had small distal phalanges of fingers 2, 3, and 4, absent distal phalanx of finger 5 and similar toe anomalies, underdeveloped nails, unusual brain anomalies, and a more severe early clinical course. These patients expand the known clinical spectrum of the disease. The severity of the presentations in conjunction with the patients’ mutations suggest a genotype–phenotype correlation in which congenital anomalies are only seen in patients with biallelic loss-of-function. In addition, PIGN mutations appear to be panethnic and may be an underappreciated cause of epilepsy. PMID:26394714

  7. Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?

    PubMed

    Titomanlio, Luigi; Bennaceur, Selim; Bremond-Gignac, Dominique; Baumann, Clarisse; Dupuy, Olivier; Verloes, Alain

    2005-09-01

    We report on a 3-year-old girl with Michels syndrome, a rare condition characterized by craniosynostosis, blepharophimosis, ptosis, epicanthus inversus, cleft lip/palate, abnormal supra-umbilical abdominal wall, and mental deficiency. The phenotypic findings are compared with the six previously reported Michels cases, and with patients referred to as Carnevale, OSA, and Malpuech syndromes. Michels syndrome is characterized by cleft lip and palate, anterior chamber anomalies, blepharophimosis, epicanthus inversus, and craniosynostosis. Carnevale syndrome shows hypertelorism, downslanting palpebral fissures, ptosis, strabismus synophrys, large and fleshy ears, and lozenge-shaped diastasis around the umbilicus. OSA syndrome resembles Carnevale, with humeroradial synostoses, and spinal anomalies as extra features. Malpuech syndrome shows IUGR, hypertelorism, cleft lip and palate, micropenis, hypospadias, renal anomalies, and caudal appendage. All are autosomal recessive. Despite the presence of apparently distinctive key features, it appears that these four entities share multiple similarities in the facial Gestalt and the pattern of MCA. Those similarities lead us to postulate that they belong to the same spectrum, which could be referred to as "3MC syndrome" (Malpuech-Michels-Mingarelli-Carnevale syndrome).

  8. Immunological responses in the eyelid and orbit.

    PubMed

    van der Gaag, R

    1988-01-01

    Immunological responses in the eyelid and the orbit are reviewed: (1) A local immune response is dependent on the presence of lymphoid tissue in an organ. Lymphoid tissue is found in the conjunctival fornices and in the lacrimal gland but not in the orbit. The eyelids also have lymphatic drainage into the local lymph nodes. A local immune response is found in the palpebral conjunctiva and in the lacrimal gland, measureable both as immunoglobulin or specific antibody levels in tears or as immunoglobulin producing cells within the tissue. No local immunity has been demonstrated in the orbit. (2) The other type of immune response found in the eyelids, the lacrimal gland and the orbit is the involvement of these tissues in systemic diseases. Systemic diseases with an immunological basis, which affect the above mentioned tissues are: atopic diseases of the skin, autoimmune diseases, immunodeficiency diseases and lymphoproliferative diseases. (3) Finally, it is possible that the extraocular muscles and the lacrimal gland have tissue specific antigens and therefore may be target tissues for organ specific autoimmune processes.

  9. Autistic and Rett-like features associated with 2q33.3-q34 interstitial deletion.

    PubMed

    Jang, Dae-Hyun; Chae, Hyojin; Kim, Myungshin

    2015-09-01

    We describe the fourth reported case of a de novo 2q33.3-q34 interstitial deletion and review the literature in attempt to identify relevant candidate genes. A 15-month-old female patient presented for evaluation with poor eye contact and developmental delay. She had microcephaly and mild dysmorphic features, such as downslanting palpebral fissures, high forehead, small mouth, high palate, and general hypotonia. At 30 months of age, she was referred to the genetic clinic for an evaluation of persistent developmental delay, autistic traits, and Rett-like features, including bruxism and repetitive movement of the left hand. Chromosome analysis revealed 46,XX at the 550 band level. No abnormalities were found on analysis of MECP2 gene for Rett syndrome and a DNA methylation test for Prader-Willi syndrome. An array comparative genomic hybridization analysis revealed a de novo 2q33.3-q34 heterozygous deletion (206,048,173-211,980,867). The deletion was estimated to be 5.9 Mb in size and contained 34 known genes. Candidate genes were identified as NRP2, ADAM23, KLF7, CREB1, MAP2, UNC80, and LANCL1 for the 2q33.3-q34 interstitial deletion.

  10. Dacryops of the lacrimal gland in a dog.

    PubMed

    Delgado, Esmeralda

    2013-03-01

    A case of congenital lacrimal cyst or dacryops of the lacrimal gland in an 8-month-old Neapolitan Mastiff dog is reported. The dog presented with a swelling dorsolateral to the left globe, which had been present since birth. In addition, hyperplasia and prolapse of the superficial gland of the left nictitating membrane, and bilateral macropalpebral fissure and 'diamond eye' conformation were apparent. On manual eversion of the upper eyelid, a subconjunctival mass was visible that was translucent and pink and affected the upper conjunctival fornix. B-mode ultrasonography revealed the presence of an echolucent thin-walled cystic structure measuring 15 by 12 mm and containing an echodense border and a distended tubular fluid-filled structure that extended posteriorly. A viscous and transparent fluid was aspirated from the lesion. Surgery was performed to excise the lesion, reposition the nictitans gland, and correct the morphology of the palpebral fissure. Histopathology confirmed the mass to be a cyst and distended duct of the lacrimal gland. Although tear secretion was compromised, resection of the cyst was curative.

  11. Conjunctival expression of the P2Y2 receptor and the effects of 3% diquafosol ophthalmic solution in dogs.

    PubMed

    Terakado, Kunihiko; Yogo, Takuya; Kohara, Yukihiro; Soeta, Satoshi; Nezu, Yoshinori; Harada, Yasuji; Hara, Yasushi; Amasaki, Hajime; Tagawa, Masahiro

    2014-10-01

    Conjunctival epithelial and goblet cell P2Y2 nucleotide receptors regulate ion transport and secretory function. Diquafosol is a P2Y2 purinergic receptor agonist that stimulates secretion of aqueous tear components from conjunctival epithelial cells and secretion of mucin from conjunctival goblet cells. In humans suffering from keratoconjunctivitis sicca (dry eye), topical administration of diquafosol improves corneal epithelial integrity and stabilises the tear film. The aim of the present study was to investigate P2Y2 receptor expression and to determine the effect of topical administration of diquafosol on mucin and aqueous tear production in dogs. Canine conjunctival P2Y2 receptor expression was evaluated by Western blotting and immunohistochemical analysis. The effect of diquafosol on mucin secretion was evaluated by examining mucin-5 subtype AC (MUC5AC) concentration in tears. The effect of diquafosol on aqueous secretions was evaluated by performing the Schirmer tear test (STT) and phenol red thread test. Expression of the P2Y2 receptor was confirmed in canine bulbar and palpebral conjunctivae and receptors were identified at the conjunctival epithelial and goblet cell surface. Tear MUC5AC concentration significantly increased after administration of 3% diquafosol ophthalmic solution, although neither STT nor phenol red thread test values showed any significant change after diquafosol instillation. Topical ocular administration of 3% diquafosol might improve corneal epithelial disorders in dogs through stabilisation of the tear film, by virtue of an increase in MUC5AC secretion.

  12. Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene.

    PubMed

    Martínez, Francisco; Roselló, Mónica; Mayo, Sonia; Monfort, Sandra; Oltra, Silvestre; Orellana, Carmen

    2014-04-01

    Here we report on two unrelated male patients with syndromic intellectual disability (ID) due to duplication at Xq13.3-q21.1, a region of about 6 Mb and 25 genes. Among these, the most outstanding is ATRX, the causative gene of X-linked alpha-thalassemia/mental retardation. ATRX belongs to the growing list of genes implied in chromatin remodeling causing ID. Many these genes, such as MECP2, are dose-sensitive so that not only deletions and point mutations, but also duplications cause ID. Both patients have severe ID, absent expressive speech, early hypotonia, behavior problems (hyperactivity, repetitive self-stimulatory behavior), postnatal growth deficiency, microcephaly, micrognathia, cryptorchidism, low-set, posteriorly angulated ears, and downslanting palpebral fissures. These findings are also usually present among patients with loss-of-function mutations of the ATRX gene. Completely skewed X inactivation was observed in the only informative carrier mother, a constant finding among female carriers of inactivating point mutations of this gene. Participation of other duplicated genes cannot be excluded; nevertheless we propose that the increased dosage of ATRX is the major pathogenic mechanism of this X-linked disorder, a syndrome reminiscent of MECP2 duplication.

  13. Biomedical spectroscopy in clinical applications and implications of liquid crystal filter technologies

    NASA Astrophysics Data System (ADS)

    McMurdy, John W.

    This dissertation discusses two related clinical applications of visible regime diffuse reflectance spectroscopy as well as two new configurations of liquid crystal microspectrometer suitable in these applications. Total hemoglobin concentration can be determined, and thus anemia diagnosed, using diffuse reflectance signals from the inner lining of the eyelid, the palpebral conjunctiva. Alternative technologies for anemia detection are explored, a theoretical model for light diffusion through the conjunctiva is presented, and predictive models are established relating spectral signatures to hemoglobin concentration. Two separate clinical trials were conducted showing accuracy of hemoglobin determination with respect to invasive determination of 5% and 8% of mean hemoglobin concentration, respectively. Local hemoglobin concentration can also be determined in vivo at individual vessels using a single fiber which is directly applicable in endoscopic and laparoscopic surgery. Clinical trials showed signal differentiation of different hemoglobin levels in laparoscopic cases when pressing the single fiber against an individual vessel, and donor/recipient differentiation in fetal endoscopy cases of twin to twin transfusion syndrome. Liquid crystal technologies can be used to create integrated chip-scale microspectrometers. In one configuration, analog tunable ferroelectric liquid crystals are applied to create a tunable filter spectrometer with resolution from 15-30 nm. In a second configuration, stressed liquid crystal polymer composites are used to create large phase modulators, subsequently applied as single panel Fourier transform spectrometers. Proof of concept studies show a 100 microm stressed liquid crystal polymer in double pass mode is capable of 60 nm resolving power.

  14. Lateral meningocele syndrome: three new patients and review of the literature.

    PubMed

    Gripp, K W; Scott, C I; Hughes, H E; Wallerstein, R; Nicholson, L; States, L; Bason, L D; Kaplan, P; Zderic, S A; Duhaime, A C; Miller, F; Magnusson, M R; Zackai, E H

    1997-06-13

    One female and two male patients with multiple lateral meningoceles are presented. They do not have neurofibromatosis or Marfan syndrome and share findings with the two previously described patients with multiple lateral meningoceles. The original report by Lehman et al. [1977: J Pediatr 90:49-54] was titled "familial osteosclerosis," because osteosclerosis was present in the proposita and her mother; the patient described by Philip et al. [1995: Clin Dysmorphol 4:347-351] also had increased bone density of the skull base and the sutures. Thickened calvaria were present in one of our patients; two had a prominent metopic suture. Other shared findings include multiple lateral meningoceles, Wormian bones, malar hypoplasia, downslanted palpebral fissures, a high narrow palate, and cryptorchidism in males. In addition, our patients showed ligamentous laxity, keloid formation, hypotonia, and developmental delay. A short umbilical cord was noted in two patients. One had a hypoplastic posterior arch of the atlas and an enlarged sella, as reported by Lehman et al. [1977]. Our patients appear to have the same syndrome as previously reported. We suggest it be called "lateral meningocele syndrome," because of this unique finding.

  15. A Novel Mutation in CLCN1 Associated with Feline Myotonia Congenita

    PubMed Central

    Gandolfi, Barbara; Daniel, Rob J.; O'Brien, Dennis P.; Guo, Ling T.; Youngs, Melanie D.; Leach, Stacey B.; Jones, Boyd R.; Shelton, G. Diane; Lyons, Leslie A.

    2014-01-01

    Myotonia congenita (MC) is a skeletal muscle channelopathy characterized by inability of the muscle to relax following voluntary contraction. Worldwide population prevalence in humans is 1∶100,000. Studies in mice, dogs, humans and goats confirmed myotonia associated with functional defects in chloride channels and mutations in a skeletal muscle chloride channel (CLCN1). CLCN1 encodes for the most abundant chloride channel in the skeletal muscle cell membrane. Five random bred cats from Winnipeg, Canada with MC were examined. All cats had a protruding tongue, limited range of jaw motion and drooling with prominent neck and proximal limb musculature. All cats had blepharospasm upon palpebral reflex testing and a short-strided gait. Electromyograms demonstrated myotonic discharges at a mean frequency of 300 Hz resembling the sound of a ‘swarm of bees’. Muscle histopathology showed hypertrophy of all fiber types. Direct sequencing of CLCN1 revealed a mutation disrupting a donor splice site downstream of exon 16 in only the affected cats. In vitro translation of the mutated protein predicted a premature truncation and partial lack of the highly conserved CBS1 (cystathionine β-synthase) domain critical for ion transport activity and one dimerization domain pivotal in channel formation. Genetic screening of the Winnipeg random bred population of the cats' origin identified carriers of the mutation. A genetic test for population screening is now available and carrier cats from the feral population can be identified. PMID:25356766

  16. Conjunctival instillation of plasminogen eliminates ocular lesion in B6.129P2-Plg(tm1Jld) transgenic mice, a model of ligneous conjunctivitis.

    PubMed

    Pignataro, G; Vinciguerra, A; Cuomo, O; Sirabella, R; Di Renzo, G F; Scorziello, A

    2013-08-01

    Ligneous conjunctivitis is a severe and rare chronic "idiopathic membraneous" conjunctivitis, characterized by the formation of pseudomembranes mostly on the palpebral surfaces that progressively replace the normal mucosa. Evidence has been provided that ligneous conjunctivitis is caused by a severe systemic plasminogen deficiency with decreased plasminogen antigen and decreased plasminogen functional activities. Objective of the present study is to verify the hypothesis that a topical eye application of plasminogen is able to ameliorate the consequences of this disease. Here we report the results of pre-clinical studies performed to investigate the therapeutic effectiveness of an eye-drop plasminogen preparation in B6.129P2-Plg(tm1Jld) transgenic mice, a model of ligneous conjunctivitis. The entity of protection mediated by plasminogen was evaluated by measuring the extent of the eye lesion by means of a computerized system and dedicated software. The results of the present study clearly showed that the administration for six times a day of plasminogen eye-drop solution in the lesioned eye of animals knock-out for plasminogen gene and developing ligneous conjunctivitis caused a dose and time related reduction of the extent of the ocular lesion. These findings may pave the road for the pharmacological treatment of the ocular lesion associated to the ligneous conjunctivitis that at the present is surgically treated by removing the pseudomembranes generated on the eye.

  17. Johann Christian Rosenmüller (1771-1820): A Historical Perspective on the Man behind the Fossa

    PubMed Central

    Amene, Chiazo; Cosetti, Maura; Ambekar, Sudheer; Guthikonda, Bharat; Nanda, Anil

    2013-01-01

    Introduction The fossa of Rosenmüller, also known as the lateral pharyngeal recess, is a well-established site of origin of nasopharyngeal carcinoma. It is located in the lateral pharyngeal wall behind the cartilaginous portion of the Eustachian tube, the torus tubarius, and is named after Johann Christian Rosenmüller (JCR). Objective We present a history on the life and extensive works of Johann Christian Rosenmüller, a German physician and anatomist. Results Johann Christian Rosenmüller was a dedicated anatomist. In addition to identifying the fossa of Rosenmüller, his influence extends to various other anatomic subjects, including the Rosenmüller gland, the palpebral portion of the lacrimal gland, and the organ of Rosenmüller (i.e., the caudal remnant of the mesonephric duct). He was also an avid speleologist, studying the composition of caves and their life forms. For his contributions to this field, he had a cave in Germany and an extinct species named after him—Rosenmüllerhöhle and Ursus spelaeus Rosenmüller, respectively. Conclusion The fossa of Rosenmüller plays an important role in the growth and surgical treatment of nasopharyngeal carcinoma. We present a brief glimpse into the life of Johann Christian Rosenmüller, for whom it was named. PMID:24436911

  18. Gene of a new X-linked syndrome with multiple congenital anomalies and severe mental retardation maps in Xp22-pter

    SciTech Connect

    Wittwer, B.; Kircheisen, R.; Leutelt, J.

    1994-09-01

    We report on a family with 3 males presenting with a not yet described new X-chromosomal syndrome of multiple congenital anomalies and severe mental retardation. Two sisters have (with 3 different partners) 3 severely handicapped sons. In each case, oligohydramnios and intrauterine growth retardation were observed. Delivery was in the 34th, 31st, and 38th gestational week, respectively. Two of the patients had microcephaly (head circumference of the third case at birth is unknown). On physical examination, high and broad forehead, frontal bossing, downslanting palpebral fissures, long philtrum, thin upper lip, high arched palate, and deeply set anteverted ears were seen. One of the boys has microphthalmos and sclerocornea, while his cousin shows atrophy of the optic nerve. All three patients show a severe statomotor and mental retardation, they are most likely deaf and blind, have pathologic EEG, and seizures. Important additional findings are hydronephrosis, renal duplication, vesicorenal reflux, and agenesis of corpus callosum. The karyotype is normal (46,XY). We performed a segregation analysis in the family using more than 20 DNA polymorphisms distributed over the X chromosome. Linkage without recombination was found to KAL, DXS278, and DXS16 in Xp22. Analysis of multiple informative meioses suggested a location of the disease locus distal to DXS207. Recombinants were identified with all other marker loci from Xp22-Xpter.

  19. Persistent Symblepharon in an Infant Following Epidemic Keratoconjunctivitis

    PubMed Central

    AKKAYA, Sezen; OZKURT, Yelda Buyru

    2016-01-01

    Epidemic keratoconjunctivitis (EKC), caused by certain species D human adenoviruses (Ads), is a highly contagious severe disease involving both the conjunctiva and cornea. The hallmark of this disease is the subepithelial infiltration of leukocytes, which results in corneal opacities that may persist for months or even years. In this case, of a 6-month-old infant, we report a symblepharon formation, a relatively rare outcome of EKC. In this condition, the palpebral conjunctiva adheres tightly to the bulbar conjunctiva of the eyeball. Our report is the first documentation of a symblepharon formation in an infant. Only two similar cases have been reported to date; therefore, a detailed description is of considerable interest to ophthalmologists. This is particularly interesting since a previous publication has associated symblepharon formation with an adenovirus infection, which is not usually involved in EKC. The development of a symblepharon following EKC is rare in infants. Since topical treatment cannot be applied due to severe eyelid edema, oral steroid therapy can be administered with pediatric consultation and meticulous monitoring. PMID:28293652

  20. Disseminated histoplasmosis (Histoplasma capsulatum) in a pet rabbit: case report and review of the literature.

    PubMed

    Brandão, João; Woods, Samantha; Fowlkes, Natalie; Leissinger, Mary; Blair, Robert; Pucheu-Haston, Cherie; Johnson, James; Elster Phillips, Christina; Tully, Thomas

    2014-01-01

    A 2.5-year-old intact male miniature lop rabbit (Oryctolagus cuniculus) was presented with multiple nodules surrounding the eyes, nose, mouth, and prepuce. Cytological evaluation of the periocular nodules revealed the presence of intracellular (within macrophages) and extracellular yeast organisms. The yeast organisms were approximately 3-5 µm in diameter, round to oval, with a thin clear capsule, and contained an eccentrically placed basophilic crescent-shaped nucleus. The clinical pathological interpretation was granulomatous inflammation with intralesional yeast of a morphology consistent with Histoplasma spp. The rabbit was treated with microsized griseofulvin (25 mg/kg, orally, once a day) for 12 days pending final cytological diagnosis of histoplasmosis. No significant improvement was noted during the treatment period, and humane euthanasia was performed. Postmortem examination revealed the presence of intracellular and extracellular yeast organisms in the small intestine, skin (antebrachium, perioral, palpebral, perianal, and pinnal), penis, penile urethra, rectum, axillary lymph node, and conjunctiva. Postmortem fungal culture yielded Histoplasma capsulatum. Based on clinical and postmortem findings, a definitive diagnosis of disseminated histoplasmosis was made. Disseminated histoplasmosis appears to be unreported in rabbits. Although the treatment used did not provide noticeable improvement, available information on histoplasmosis treatment in other species has been reviewed to provide useful information for future management of this condition in rabbits.

  1. Intrapartum diagnostic of Roberts syndrome - case presentation.

    PubMed

    Socolov, Răzvan Vladimir; Andreescu, Nicoleta Ioana; Haliciu, Ana Maria; Gorduza, Eusebiu Vlad; Dumitrache, Florentin; Balan, Raluca Anca; Puiu, Maria; Dobrescu, Mihaela Amelia; Socolov, Demetra Gabriela

    2015-01-01

    Roberts syndrome is a rare disease, with multiple limb and skeletal abnormalities (called "pseudothalidomide disease"). There are only around 150 cases described in literature. We present a case of Roberts syndrome, diagnosed in moment of delivery, after a pregnancy without prenatal follow-up. The stillborn baby was naturally delivered by a 17-year-old primiparous woman at 38 weeks of amenorrhea. The pregnancy was not followed due to socioeconomic and family situation, and no prenatal ultrasound was performed. The male baby has 2650 g and presented several morphological abnormalities and tight double umbilical abdominal loop. The macroscopic evaluation showed: dolichocephaly, hypoplastic inferior maxilla with micrognathia, antimongoloid palpebral slant, pterygium colli, abnormal and lower implanted ears, superior limbs phocomelia, syndactyly at lower left limb and tetradactyly in all limbs, bilateral cryptorchidism, pancreatic aplasia. Roberts syndrome is a rare genetic disease with recessive autosomal transmission generated by mutations in ESCO2 gene, located on chromosome 8. The disease should be easy to diagnose by antenatal ultrasound examination, but in our case, the lack of prenatal follow-up determined the diagnostic at term. We believe consider this case is an argument towards introducing ultrasound-screening compulsory to all pregnancies. To identify a possible genetic mutation, further investigations of the parents are in progress, but classically the disease has a recessive autosomal transmission.

  2. Molecular characterization of a novel translocation t(5;14)(q21;q32) in a patient with congenital abnormalities.

    PubMed

    Haider, Shawkat; Matsumoto, Rie; Kurosawa, Nobuyuki; Wakui, Keiko; Fukushima, Yoshimitsu; Isobe, Masaharu

    2006-01-01

    Chromosomal translocations are frequently found to be associated with various malignant disorders as well as congenital abnormalities. We report the characterization of a novel reciprocal translocation t(5;14)(q21;q32) in a patient with congenital abnormalities manifested by severe mental retardation, athetotic tetraplegia, microcephaly, peculiar facies (upward slanting of palpebral fissures), clinodactyly of the fifth fingers, and overlapping toes. Using a JHGP24 lymphoblast cell line derived from this patient, metaphase fluorescence in situ hybridization with bacterial artificial chromosome and cosmid probes and subsequent molecular analysis mapped the translocation breakpoint to the nucleotide level. Sequence analysis of the breakpoint junctions revealed the presence of a homologous sequence, GTGGC, along with a single nucleotide substitution and an insertion in der(14), and a single nucleotide deletion in the der(5) chromosome. We also attempted to identify and characterize the transcripts near the breakpoint by 5' and 3' rapid amplification of cDNA ends. Although we found several transcripts near the breakpoint of chromosome 14, the lack of significant ORFs within these transcripts suggests they are likely to be non-coding RNAs. These transcripts may have an important role in the neurogenesis or differentiation.

  3. Detection of a complex translocation using fluorescent in situ hybridization (FISH)

    SciTech Connect

    Rosen, B.A.; Abuelo, D.N.; Mark, H.F.

    1994-09-01

    The use of fluorescent in situ hybridization (FISH) allowed the detection of a complex 3-way translocation in a patient with multiple congenital malformations and mental retardation. The patient was a 10-year-old girl with mental retardation, seizures, repaired cleft palate, esotropia, epicanthal folds, broad nasal bridge, upward slanting palpebral fissures, single transverse palmar crease, brachydactyly, hypoplastic nails, ectrodactyly between the third and fourth right toes, and hypoplasia of the left third toe. Chromosome analysis performed at birth was reported as normal. We performed high resolution banding analysis which revealed an apparently balanced translocation between chromosomes 2 and 9. However, because of her multiple abnormalities, further studies were ordered. Fluorescent in situ hybridization (FISH) using chromosome painting probes revealed a karyotype of 46,XX,t(2;8;9) (2pter{yields}q31::8q21.2{yields}8qter; 8pter{yields}q21.2::2q31{yields}q34::9q34{yields}qter; 9pter{yields}q34::2q34{yields}qter). The 3-way translocation appears to be de novo, as neither parent is a translocation carrier. This case illustrates the importance of using FISH to further investigate cases of apparently balanced translocations in the presence of phenotypic abnormalities and/or mental retardation.

  4. Upper limb malformations in chromosome 22q11 deletions

    SciTech Connect

    Shalev, S.A.; Dar, H.; Barel, H.; Borochowitz, Z.

    1996-03-29

    We read with interest the report of Cormier-Daire et al. in a recent issue of the journal, describing upper limb malformations in DiGeorge syndrome. We observed a family with this group of rare clinical expression of chromosome 22q11 deletions. The proposita was examined in our clinic when she was 4 years old. She was mildly mentally retarded. Clinical evaluation showed normal growth, long thin nose with squared tip, nasal speech, and abundant scalp hair and no cardiac anomalies. The girl was accompanied by her mother. Facial similarities were noted between the two. The mother reported to be treated with oral calcium due to hypoparathyroidism, diagnosed several years ago. Clinical evaluation showed wide flat face, short stature, mild mental retardation, slight hypertelorism, peculiar nose similar to her daughter`s, and nasal speech. No cardiac anomalies were found. Recently, a brother was born. Clinical examination documented large ventriculo-septal defect, retrognathia, narrow palpebral fissures, and long thin nose with squared tip. 1 ref.

  5. A novel mutation in CLCN1 associated with feline myotonia congenita.

    PubMed

    Gandolfi, Barbara; Daniel, Rob J; O'Brien, Dennis P; Guo, Ling T; Youngs, Melanie D; Leach, Stacey B; Jones, Boyd R; Shelton, G Diane; Lyons, Leslie A

    2014-01-01

    Myotonia congenita (MC) is a skeletal muscle channelopathy characterized by inability of the muscle to relax following voluntary contraction. Worldwide population prevalence in humans is 1:100,000. Studies in mice, dogs, humans and goats confirmed myotonia associated with functional defects in chloride channels and mutations in a skeletal muscle chloride channel (CLCN1). CLCN1 encodes for the most abundant chloride channel in the skeletal muscle cell membrane. Five random bred cats from Winnipeg, Canada with MC were examined. All cats had a protruding tongue, limited range of jaw motion and drooling with prominent neck and proximal limb musculature. All cats had blepharospasm upon palpebral reflex testing and a short-strided gait. Electromyograms demonstrated myotonic discharges at a mean frequency of 300 Hz resembling the sound of a 'swarm of bees'. Muscle histopathology showed hypertrophy of all fiber types. Direct sequencing of CLCN1 revealed a mutation disrupting a donor splice site downstream of exon 16 in only the affected cats. In vitro translation of the mutated protein predicted a premature truncation and partial lack of the highly conserved CBS1 (cystathionine β-synthase) domain critical for ion transport activity and one dimerization domain pivotal in channel formation. Genetic screening of the Winnipeg random bred population of the cats' origin identified carriers of the mutation. A genetic test for population screening is now available and carrier cats from the feral population can be identified.

  6. Mosaic trisomy 8 detected by fibroblasts cultured of skin

    PubMed Central

    Gómez, Ana M; Mora, Lina; Suarez-Obando, Fernando; Moreno, Olga

    2016-01-01

    Introduction: Mosaic trisomy 8 or "Warkany's Syndrome" is a chromosomopathy with an estimated prevalance of 1:25,000 to 1:50,000, whose clinical presentation has a wide phenotypic variability. Case Description: Patient aged 14 years old with antecedents of global retardation of development, moderate cognitive deficit and hypothyroidism of possible congenital origin. Clinical Findings: Physical examination revealed palpebral ptosis, small corneas and corectopia, hypoplasia of the upper maxilla and prognathism, dental crowding, high-arched palate, anomalies of the extremities such as digitalization of the thumbs, clinodactyly and bilateral shortening of the fifth finger, shortening of the right femur, columnar deviation and linear brown blotches that followed Blaschko's lines. Cerebral nuclear magnetic resonance revealed type 1 Chiari's malformation and ventriculomegaly. Although the karyotype was normal in peripheral blood (46,XY), based on the finding of cutaneous mosaicism the lesions were biopsied and cytogenetic analysis demonstrated mosaic trisomy 8: mos 47,XY,+8[7]/46,XY[93]. Clinical Relevance: Trisomy 8 is clinically presented as a mosaic, universal cases being unfailingly lethal. In this particular case, cutaneous lesions identified the mosaic in tissue, although the karyotype was normal in peripheral blood. The cutaneous mosaicism represented by brown linear blotches which follow Blaschko's lines is a clinical finding that has not previously been described in Warkany's syndrome. PMID:27546932

  7. Report of a Case with Trisomy 9 Mosaicism

    PubMed Central

    Miryounesi, Mohammad; Dianatpour, Mehdi; Shadmani, Zahra; Ghafouri-Fard, Soudeh

    2016-01-01

    Trisomy 9 is a rare chromosome disorder with high neonatal mortality. It is often seen in mosaic form. Most patients who survive are severely mentally retarded. The main features of this syndrome are “bulbous” nose, microphthalmia, dislocated limbs, and other anomalies of skeletal, cardiac, genitourinary, and central nervous system. Most patients have developmental and cognitive impairment. Patients with mosaicism survive longer than non-mosaics, but it was believed that the degree of mosaicism in lymphocytes or fibroblasts does not associate with survival or degree of impairment. In this report, we present a 2.5-year-old male case of mosaic trisomy 9, to show the wide range of clinical findings in this chromosome disorder. The patient had cardiac anomalies, inguinal hernia, and undescendent testes. He had low-set slightly malformed ears, deeply-set malformed eyes, small palpebral fissures, micrognathia, developmental delay and unilateral optic hypoplasia. The most prominent facial anomaly in this patient was eye anomalies. Cytogenetic analysis with G banding showed karyotype 47XY,+9 in 44% of peripheral lymphocytes examined (47XY,+9[22], 46XY[28]). His parents’ karyotypes were normal. Moderate developmental delay, which was detected in this patient shows that the range of motor and cognitive impairment in this chromosomal disorder is quite broad. This fact should be considered in genetic counseling as well as prenatal diagnosis of this chromosomal disorder. PMID:27217611

  8. Physiological and pharmacokinetic effects of multilevel caging on Sprague Dawley rats under ketamine-xylazine anesthesia

    PubMed Central

    Dodelet-Devillers, Aurore; Zullian, Chiara; Beaudry, Francis; Gourdon, Jim; Chevrette, Julie; Hélie, Pierre; Vachon, Pascal

    2016-01-01

    While the cage refinement is a necessary step towards improving the welfare of research rats, increasing the complexity and surface area of the living space of an animal may have physiological impacts that need to be taken into consideration. In this study, ketamine (80 mg/kg) and xylazine (10 mg/kg) caused a short duration anesthesia that was significantly decreased in Sprague-Dawley rats housed in multilevel cages (MLC), compared to rats housed in standard cages (SDC). The withdrawal reflex, the palpebral reflexes and the time-to-sternal all occurred earlier in MLC housed rats, suggesting an effect of housing on the physiology of the rats. In addition, during anesthesia, cardiac frequencies were increased in animals housed in the smaller SDC. Respiratory frequencies, the blood oxygen saturation and rectal temperatures during anesthesia did not vary between conditions during the anesthesia. While xylazine pharmacokinetics were unchanged with caging conditions, the clearance and half-lives of ketamine and its metabolite, norketamine, were altered in the rats housed in MLC. Finally, while no difference was ultimately seen in rat body weights, isolated liver and adrenal gland weights were significantly lighter in rats housed in the MLC. Increasing cage sizes, while having a positive impact on wellbeing in rats, can alter anesthetic drug metabolism and thus modify anesthesia parameters and associated physiological processes. PMID:27263962

  9. Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica

    PubMed Central

    Kariminejad, Ariana; Afroozan, Fariba; Bozorgmehr, Bita; Ghanadan, Alireza; Akbaroghli, Susan; Khorram Khorshid, Hamid Reza; Mojahedi, Faezeh; Setoodeh, Aria; Loh, Abigail; Tan, Yu Xuan; Escande-Beillard, Nathalie; Malfait, Fransiska; Reversade, Bruno; Gardeitchik, Thatjana; Morava, Eva

    2017-01-01

    Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of this disease are rare and can have autosomal dominant, autosomal recessive, or X-linked inheritance. Three of the autosomal recessive cutis laxa syndromes, namely cutis laxa IIA (ARCL2A), cutis laxa IIB (ARCL2B), and geroderma osteodysplastica (GO), have very similar clinical features, complicating accurate diagnosis. Individuals with these conditions often present with cutis laxa, progeroid features, and hyperextensible joints. These conditions also share additional features, such as short stature, hypotonia, and congenital hip dislocation, but the severity and frequency of these findings are variable in each of these cutis laxa syndromes. The characteristic features for ARCL2A are abnormal isoelectric focusing and facial features, including downslanting palpebral fissures and a long philtrum. Rather, the clinical phenotype of ARCL2B includes severe wrinkling of the dorsum of the hands and feet, wormian bones, athetoid movements, lipodystrophy, cataract and corneal clouding, a thin triangular face, and a pinched nose. Normal cognition and osteopenia leading to pathological fractures, maxillary hypoplasia, and oblique furrowing from the outer canthus to the lateral border of the supraorbital ridge are discriminative features for GO. Here we present 10 Iranian patients who were initially diagnosed clinically using the respective features of each cutis laxa syndrome. Each patient’s clinical diagnosis was then confirmed with molecular investigation of the responsible gene. Review of the clinical features from the cases reported from the literature also supports our conclusions. PMID:28294978

  10. Deletion involving D15S113 in a mother and son without Angelman syndrome: Refinement of the Angelman syndrome critical deletion region

    SciTech Connect

    Michaelis, R.C.; Skinner, S.A.; Lethco, B.A.

    1995-01-02

    Deletions of 15q11-q13 typically result in Angelman syndrome when inherited from the mother and Prader-Willi syndrome when inherited from the father. The critical deletion region for Angelman syndrome has recently been restricted by a report of an Angelman syndrome patient with a deletion spanning less than 200 kb around the D15S113 locus. We report here on a mother and son with a deletion of chromosome 15 that includes the D15S113 locus. The son has mild to moderate mental retardation and minor anomalies, while the mother has a borderline intellectual deficit and slightly downslanting palpebral fissures. Neither patient has the seizures, excessive laughter and hand clapping, ataxia or the facial anomalies which are characteristic of Angelman syndrome. The proximal boundary of the deletion in our patients lies between the D15S10 and The D15S113 loci. Our patients do not have Angelman syndrome, despite the deletion of the D15S113 marker. This suggests that the Angelman syndrome critical deletion region is now defined as the overlap between the deletion found in the previously reported Angelman syndrome patient and the region that is intact in our patients. 28 refs., 6 figs.

  11. Sandwich-dot enzyme-linked immunosorbent assay for the detection of canine distemper virus.

    PubMed

    Li, Zhi; Zhang, Yanlong; Wang, Huiguo; Jin, Jinhua; Li, Wenzhe

    2013-10-01

    A sandwich-dot enzyme-linked immunosorbent assay (dot ELISA) was developed for the detection of canine distemper virus (CDV). In 56 dogs suspected to have CD the rates of detection of CDV antigen in samples of blood lymphocytes and palpebral conjunctiva by dot ELISA and ELISA were, respectively, 91% (49/54) and 81% (44/54) for the lymphocyte samples and 88% (28/32) and 75% (24/32) for the conjunctival samples. The CDV detection limits were 10 ng/50 μL for dot ELISA and 40 ng/50 μL for ELISA. The reliability of dot ELISA relative to electron microscopy was 96% with 22 samples: all 21 samples in which CDV particles were observed by electron microscopy yielded positive results with dot ELISA; the single sample in which particles were not observed yielded false-positive results with dot ELISA. The results indicate that the dot ELISA developed can serve as a reliable rapid diagnostic test in suspected cases of CD and also be useful for epidemiologic surveillance of the disease.

  12. Cytogenetic and Clinical Assessment of a Family with Treacher Collins Syndrome

    PubMed Central

    Kumar, Manoj; Kumar, Rakesh; Tanwar, Mukesh; Ghose, Supriyo; Kaur, Jasbir; Dada, Rima

    2011-01-01

    Treacher Collins syndrome (TCS) is a rare autosomal dominant disorder characterized by craniofacial deformities. It is the most common type of mandibulofacial dysostosis (MFD). The objective of this study is to do cytogenetic analysis of a TCS family. Physical examination and all available medical records were reviewed. 50 GTG-banded metaphases were analysed to detect any structural or numerical chromosomal abnormality. Downward slanting of palpebral fissures, hypoplasia of zygomatic arch complex, and hypoplasia of mandible were present in all. Cytogenetic findings show interstitial deletion in chromosomes 5(q32-q33) and 3(q23–q25). We report four members of three generations of a family having TCS in a unique way that the deletion has been found in 3q and 5q which has not been reported. Mosaicism of deletion on 5q was detected in all affected members whereas 3q deletion was found only in one member (II.2). This finding may represent a more severe manifestation of the TCS. Thus the evaluation and counselling of the TCS patients should be undertaken with caution. PMID:21765846

  13. Confirmation of Down syndrome critical region by FISH analysis in a patient with add(21)(p11)

    SciTech Connect

    Matsumoto, Naomichi; Niikawa, Norio; Mikawa, Makoto

    1995-12-04

    We have studied a patient with clinical Down syndrome (DS) who has a mosaic 46, XX/46, XX, 21p+ karyotype. The patient was born at 39 weeks of gestation with a birth weight of 3,025 g to healthy parents. At age 2 months, she was diagnosed clinically to have DS; she had flat facies, upslanted palpebral fissures, epicanthal folds, telecanthus, flat nasal bridge, abnormal dentition, malformed ears, short neck, short fingers, clinodactyly with single flexion crease of the fifth fingers, hyperextension of joints, pes planus, distal axial triradii, and bilateral tibial arch patterns. Chromosome analysis showed mosaicism consisting of a normal 46,XX cell line and a line with a 21p+ chromosome, the final karyotype being mos46,XX[57]/46,XX,add(21)(p11)[43]. Although the origin of an additional segment on chromosome 21 was not identified with conventional banding analyses, it was suspected to represent partial trisomy 21 on the basis of clinical manifestations. 6 refs., 2 figs.

  14. Genotoxicity studies of PolyGlycopleX (PGX): a novel dietary fiber.

    PubMed

    Marone, Palma Ann; Lyon, Michael; Gahler, Roland; Donath, Claudia; Hofman-Hüther, Hana; Wood, Simon

    2009-01-01

    PolyGlycopleX (PGX), a novel dietary fiber, produces no mutagenic effects in bacterial tester strains Salmonella typhimurium TA 98, TA 100, TA 1535, and TA 1537 and Escherichia coli WP2 uvrA at concentrations of 0.316, 1.00, 3.16, 10.0, 31.6, and 100 microg/plate. No biologically relevant increases in revertant colonies of any of the 5 strains are observed at any concentration; however, a reduction at 100 microg/plate in TA 1537 is noted. PGX, analyzed for polychromatic erythrocyte micronuclei induction in mice following a single 1x, 0.5x, and 0.2x maximum tolerable dose intraperitoneal treatment, produces no biologically relevant increase in any dose group. Males at 1x maximum tolerable dose show a reduction of micronuclei-containing cells. High-dose animals show signs of systemic toxicity, including a reduction of spontaneous activity, rough fur, palpebral closure, prone position, and constricted abdomen. These genotoxicity studies show PGX to be nonmutagenic in both the Ames bacterial reverse mutation assay and the mammalian erythrocyte micronucleus test.

  15. PARK2 Microduplication: Clinical and Molecular Characterization of a Further Case and Review of the Literature

    PubMed Central

    Palumbo, Orazio; Palumbo, Pietro; Leone, Maria P.; Stallone, Raffaella; Palladino, Teresa; Vendemiale, Marcella; Palladino, Stefano; Papadia, Francesco; Carella, Massimo; Fischetto, Rira

    2016-01-01

    We report on a patient with psychomotor deficits, language delay, dyspraxia, skeletal anomalies, and facial dysmorphisms (hirsutism, right palpebral ptosis, a bulbous nasal tip with enlarged and anteverted nares, and a mild prominent antihelix stem). Using high-resolution SNP array analysis, we identified a 0.49-Mb microduplication in chromosome 6q26 inherited from the mother involving the PARK2 gene: arr[hg19] 6q26(162,672,821-163,163,143)×3 mat. To the best of our knowledge, this is the third patient to date described in whom a 6q26 microduplication encompassing only the PARK2 gene has been reported in medical literature. The PARK2 gene is a neurodevelopmental gene that was initially discovered as one of the causes of autosomal recessive juvenile Parkinson disease and subsequently reported to be linked to autism spectrum disorders and attention-deficit hyperactivity disorders. We provide an overview of the literature on PARK2 microduplications and further delineate the associated phenotype. Taken together, our findings confirm the involvement of this gene in neurodevelopmental disorders and are useful to strengthen the hypothesis that, although with variable expressivity and incomplete penetrance, the PARK2 microduplication is associated with a new emerging neurodevelopmental delay syndrome. However, clinical and molecular evaluations of more patients with the microduplication are needed for full delineation of this syndrome. PMID:27867343

  16. Lateral eyelid rotation flap: a novel technique for reconstruction of full thickness eyelid defect.

    PubMed

    Pushker, Neelam; Batra, Jyoti; Meel, Rachna; Bajaj, Mandeep S; Chawla, Bhavna; Ghose, Supriyo

    2015-12-01

    The purpose of this study was to study anatomical, functional, and cosmetic outcomes of a novel technique, 'Lateral Eyelid Rotation Flap' for reconstruction of full thickness eyelid defect. In this prospective interventional study, 10 patients with full thickness eyelid defect measuring 1/2-2/3rd of eyelid width were included. Eyelid reconstruction was performed by single surgeon, using lateral eyelid rotation flap. Anatomic outcome was assessed by analyzing horizontal and vertical palpebral apertures (HPA and VPA), eyelid contour, and lateral canthus. Functional outcome was assessed by measuring tear film break-up time (TBUT) and Schirmer's test in both the eyes. Cosmetic outcome was evaluated by patients. Median age of patients was 56 years. Nine cases had full thickness defect following the excision of eyelid malignancy. The mean horizontal defect size was 17 ± 4.2 mm. HPA did not change significantly after surgery. VPA was statistically comparable to contralateral eye at 1-month follow-up. Lateral canthus angle recovered by 3rd month after surgery. TBUT and Schirmer's tests were comparable to contralateral eye. Eight patients graded cosmetic outcome as good to excellent. This is a new, single-stage technique for reconstruction of full thickness eyelid defects, with full thickness eyelid tissue including margin.

  17. Proportionality in Asian and North American Caucasian faces using neoclassical facial canons as criteria.

    PubMed

    Le, Thuy T; Farkas, Leslie G; Ngim, Rexon C K; Levin, L Scott; Forrest, Christopher R

    2002-01-01

    Nine projective linear measurements were taken to determine morphometric differences of the face among healthy young adult Chinese, Vietnamese, and Thais (60 in each group) and to assess the validity of six neoclassical facial canons in these populations. In addition, the findings in the Asian ethnic groups were compared to the data of 60 North American Caucasians. The canons served as criteria for determining the differences between the Asians and Caucasians. In neither Asian nor Caucasian subjects were the three sections of the facial profile equal. The validity of the five other facial canons was more frequent in Caucasians (range: 16.7-36.7%) than in Asians (range: 1.7-26.7%). Horizontal measurement results were significantly greater in the faces of the Asians (en-en, al-al, zy-zy) than in their white counterparts; as a result, the variation between the classical proportions and the actual measurements was significantly higher among Asians (range: 90-100%) than Caucasians (range: 13.3-48%). The dominant characteristics of the Asian face were a wider intercanthal distance in relation to a shorter palpebral fissure, a much wider soft nose within wide facial contours, a smaller mouth width, and a lower face smaller than the forehead height. In the absence of valid anthropometric norms of craniofacial measurements and proportion indices, our results, based on quantitative analysis of the main vertical and horizontal measurements of the face, offers surgeons guidance in judging the faces of Asian patients in preparation for corrective surgery.

  18. An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3).

    PubMed

    Dimitri, Paul; De Franco, Elisa; Habeb, Abdelhadi M; Gurbuz, Fatih; Moussa, Khairya; Taha, Doris; Wales, Jerry K H; Hogue, Jacob; Slavotinek, Anne; Shetty, Ambika; Balasubramanian, Meena

    2016-07-01

    Neonatal diabetes and hypothyroidism (NDH) syndrome was first described in 2003 in a consanguineous Saudi Arabian family where two out of four siblings were reported to have presented with proportionate IUGR, neonatal non-autoimmune diabetes mellitus, severe congenital hypothyroidism, cholestasis, congenital glaucoma, and polycystic kidneys. Liver disease progressed to hepatic fibrosis. The renal disease was characterized by enlarged kidneys and multiple small cysts with deficient cortico-medullary junction differentiation and normal kidney function. There was minor facial dysmorphism (depressed nasal bridge, large anterior fontanelle, long philtrum) reported but no facial photographs were published. Mutations in the transcription factor GLI-similar 3 (GLIS3) gene in the original family and two other families were subsequently reported in 2006. All affected individuals had neonatal diabetes, congenital hypothyroidism but glaucoma and liver and kidney involvement were less consistent features. Detailed descriptions of the facial dysmorphism have not been reported previously. In this report, we describe the common facial dysmorphism consisting of bilateral low-set ears, depressed nasal bridge with overhanging columella, elongated, upslanted palpebral fissures, persistent long philtrum with a thin vermilion border of the upper lip in a cohort of seven patients with GLIS3 mutations and report the emergence of a distinct, probably recognizable facial gestalt in this group which evolves with age. © 2016 Wiley Periodicals, Inc.

  19. Unique Combination of 22q11 and 14qter Microdeletion Syndromes Detected Using Oligonucleotide Array-CGH

    PubMed Central

    Zrnová, E.; Vranová, V.; Šoukalová, J.; Slámová, I.; Vilémová, M.; Gaillyová, R.; Kuglík, P.

    2012-01-01

    We report an infant with a unique combination of 22q11 deletion syndrome and 14q terminal deletion syndrome. The proband had clinical symptoms compatible with diagnosis of 22q11 deletion syndrome: microcephaly, micrognathia, high-arched palate, hypertelorism, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and heart defect, but no cell-mediated immunodeficiency typical for the syndrome. G-banding and fluorescence in situ hybridization analyses revealed a karyotype 45,XY,der(14)t(14;22)(q32.3;q11.2),-22.ish del(14)(q32.33)(D14S1420-),del(22)(q11.2q11.2)(N25-). Subsequent analyses disclosed a translocation between chromosomes 14 and 22 in the proband's mother with a deleted 14q telomere. Using comparative genome hybridization on oligonucleotide-based microarray (array-CGH), the deletion at 22q11.21 in the size of ∼4.25 Mb was revealed in the proband as well as the deletion of the telomeric area at 14q32.33qter (∼3.24 Mb) in the proband and his mother. However, both the proband and his mother showed mild symptoms (microcephaly, thin lips, carp-shaped mouth) typical for patients with the described terminal 14q deletion syndrome. PMID:22511897

  20. An outbreak of acute haemorrhagic conjunctivitis in Kaduna, Nigeria.

    PubMed Central

    Babalola, O E; Amoni, S S; Samaila, E; Thaker, U; Darougar, S

    1990-01-01

    Clinical studies were carried out on two groups of patients with acute haemorrhagic conjunctivitis (AHC) during an epidemic in 1985 in Northern Nigeria. Group 1 consisted of 99 students attending a girls' boarding school, group 2 of 200 patients selected randomly from 1000 examined at the local clinic. Moderate to severe hyperaemia and papillary responses were present in the palpebral conjunctiva of all patients, and 234 (66%) had subconjunctival haemorrhages. Transient superficial punctate keratitis was noted in over 60% of patients. A transient flare suggestive of a low grade iritis was seen in five patients. No neurological disorders were noted. Serological studies were carried out on patients from group 2. Fifteen paired and 20 single serum samples were titrated against adenovirus type 4 (Ad-4) and enterovirus type 70 (EV-70). Two pairs of sera showed a 4-fold rise in antibody levels to EV-70, whereas the antibody titres to EV-70 in the rest of the sera ranged from 1:20 (no antibody) to 1:160. None of the paired serum samples showed a 4-fold rise in antibody levels to adenovirus. The results of clinical studies and serological findings support EV-70 as a probable cause of AHC in Nigeria. PMID:2155654

  1. Mosaic variegated aneuploidy associated with a dysmorphic syndrome and mental handicap

    SciTech Connect

    Mehta, L.; Babu, A.; Willner, J.

    1994-09-01

    A 41-year-old woman was evaluated for dysmorphic features and mental handicap. Prior karyotyping had revealed 7% mosaicism for trisomy 18 in skin fibroblasts with normal blood chromosomes. Clinical features consisted of short stature, mild mental retardation, sensorineural deafness and the following dysmorphic features: short, broad neck, low posterior hairline, small palpebral fissures with iris coloboma on the right, epicanthic folds, small mouth, high palate and prominent mandible, short metacarpals and digits, particularly the fifth, with bilateral simian creases. Medical problems included non-insulin dependent diabetes mellitus, hypertension, oligomenorrhea and recent onset of diabetic neuropathy and retinal exudates. Head size and brain MRI were within normal limits. Peripheral blood chromosomes revealed: 46,XX (45 cells), 46,XX,t(7;16)(q21;q21) in 1 cell, 45,X (1 cell), 48,XXXX (1 cell), 47,XX,+mar (1 cell), 48,XX,+mar,+mar (1 cell). Skin fibroblasts revealed the following karyotypes: 46,XX (25 cells), 45,X (14 cells), 47,XX,+2 (10 cells) and 47,X,+2,+7 (1 cell). Previously reported cases of mosaic variegated aneuploidy include microcephaly as a prominent feature. Chromosomes involved in the abnormality are variable. Clinical presentations in such patients are not consistent and do not appear to correlate with specific chromosome defects. This patient represents an interesting example of probable mitotic instability disrupting normal developmental processes.

  2. The effect of anterior transposition of the inferior oblique muscle on eyelid configuration and function

    PubMed Central

    Göncü, Tuğba; Çakmak, Sevim; Akal, Ali; Oğuz, Halit

    2016-01-01

    Purpose: To evaluate the alteration of lower lid configuration and function with anterior transposition surgery of the inferior oblique (IO) muscle. Patients and Methods: A prospective clinical trial was conducted on a consecutive series of patients underwent anterior transposition of the IO as a sole operation. All patients received a thorough ophthalmic examination 1 day before and 3 months after surgery. Output parameters were consisted of palpebral fissure, margin reflex distance 1–2, lower lid function, hertel value, and lower lid crease. The differences of the collected data were calculated for statistical significance by using the Wilcoxon test. Results: A total of 19 eyes of 16 consecutive patients were included. The median preoperative grade of IO overaction was 3.5 (ranging from 3 to 4), which decreased to 0 (ranging from 0 to 2) postoperatively (P < 0.05). No significant change was observed in all parameters 3 months postoperatively (P > 0.05). Conclusion: In this study, no significant effect on lower lid configuration and function was observed following IO anterior transposition in which the disinserted muscle was placed posterior to inferior rectus insertion. PMID:26953021

  3. Hypoventilation in REM sleep in a case of 17p11.2 deletion (Smith-Magenis syndrome).

    PubMed

    Leoni, Chiara; Cesarini, Laura; Dittoni, Serena; Battaglia, Domenica; Novelli, Antonio; Bernardini, Laura; Losurdo, Anna; Vollono, Catello; Testani, Elisa; Della Marca, Giacomo; Zampino, Giuseppe

    2010-03-01

    We describe a 2-year-old baby affected by Smith-Magenis syndrome (SMS), due to 17p11.2 deletion, who presented repeated episodes of hemoglobin desaturation during REM sleep. The boy, aged 14 months, presented a phenotype characterized by psychomotor delay, right posterior plagiocephaly, telecanthus, strabismus, upslanting palpebral fissures, broad hypoplastic nasal bridge, short philtrum, deep ring shaped skin creases around the limbs, proximal syndactyly, bilateral hypoacusia. Polysomnographic (PSG) recording showed episodes of REM-related hypoventilation (hemoglobin desaturations without apneas or hypopneas). Sleep disorders are present in almost all the cases of SMS, but very few reports describe the sleep-related respiratory patterns. The finding of REM hypoventilation in SMS does not allow an unequivocal interpretation. It could reflect a subclinical restrictive respiratory impairment or, alternatively, an impairment of central respiratory control during REM sleep. In SMS children, respiratory abnormalities during sleep, and in particular during REM sleep, may cause sleep disruption, reduction of time spent in REM sleep, and daytime sleepiness. We therefore suggest that some sleep abnormalities described in SMS could be consequent to Sleep Disordered Breathing, and in particular to REM hypoventilation. Sleep studies in SMS should include the recording of respiratory parameters.

  4. Aesthetic Total Reconstruction of Lower Eyelid Using Scapha Cartilage Graft on a Vascularized Propeller Flap

    PubMed Central

    Watanabe, Hidekata; Masumoto, Kazuyuki; Kikuchi, Mamoru; Satake, Yoshiyasu; Yanai, Tetsu; Harada, Yoshimi; Ishihara, Yasuhiro; Yasuta, Masato

    2016-01-01

    Background: The aim of this study was to review the results of a cohort of patients based on our experience with a new technique for total lower eyelid reconstruction after a large defect caused by malignant tumor and trauma. A scapha cartilage graft with small skin on a vascularized propeller flap was used for 16 cases requiring lower eyelid reconstruction. Methods: Patients were identified from a database, and a retrospective case note review was conducted. The scapha cartilage graft was sutured to the margin of the defect of the palpebral conjunctiva and tarsus. The propeller flap, rotated by a perforator-based lateral orbital flap or a subcutaneous-based nasolabial flap, was vascularized on the scapha cartilage graft as anterior lining of the lower eyelid. The follow-up, including results of slit-lamp examination, lasted for varying periods, but often it was for 12 months. Results: The scapha cartilage graft with small skin on a vascularized propeller flap was viable in all cases. Slit-lamp examination detected no irritation or injury of the conjunctiva and cornea, and visual acuity was maintained in all cases. A deformity in the donor helix by this technique was also improved by getting a smaller skin harvested from the scapha. Conclusion: Use of the scapha cartilage graft with small skin on a vascularized propeller flap allows for a good fit to the orbit, short operative time under local anesthesia, good graft viability, and a good esthetic result with minimal donor site morbidity. PMID:27200258

  5. A 10.46 Mb 12p11.1-12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism.

    PubMed

    Soysal, Yasemin; Vermeesch, Joris; Davani, Nooshin Ardeshir; Hekimler, Kuyaş; Imirzalioğlu, Necat

    2011-07-01

    We present a 12-year-old girl with de novo karyotype 46,XX,del(12)(p11.1p12.1). Array CGH revealed in addition to a 10.466 Mb interstitial deletion on 12p11.1→12p12.1 a 0.191 Mb deletion on 2p16.3. The girl presented with mild facial dysmorphism consisting of microcephaly, hypertelorism, downslanting palpebral fissures, strabismus, broad nasal base, bulbous nose, short philtrum, micro/retrognathia, irregular tooth arrangement, phalangeal deformity in distal phalanges of hands, 5th finger camptodactyly, brachydactyly in feet, history of joint hypermobility, and scoliosis. She was considered to have mild to moderate mental retardation and ascertained for an autism spectrum disorder(ASD). Short arm of chromosome 12 interstitial deletions are rarely reported whereas point mutations and deletions of NRXN1, which is located on chromosome 2p16.3, are associated with ASDs. In this article we present and discuss the phenotypic consequences of a patient who was affected by deletions of two different chromosomal regions.

  6. Mild Wind Series, Minute Steak Event

    DTIC Science & Technology

    1992-11-20

    AD-A286 599 _C *POR-6546’ IWT-65461 MILD WIND SERIES MINUTE STEAK EVENT PROJECT OFFICERS REPORT TECHNICAL DIRECTORS SUMMARY REPORT flELECTL...POR-6546 (2) POR-2039 (2) POR-6300 (2) POR-2725 (2) POR-6337 (2) POR-3000 (2) WT-561 (2) WT-601 (2) POR-6546 (WT-6546) MILD WIND SERIES MINUTE STEAK ...PAGE IS INTENTIONALLY LEFT BLANK. r lit ! ABSTRACT MINUTE STEAK was a Department of Defense Vertical Line of Sight (LOS) undergound It was detonated

  7. Por que no dejar a los estudiantes con habilidad superior comenzar la escuela en enero? Estudio de la Compactaction del Curriculum. Monografia Investigativa 94401 (Why Not Let High Ability Students Start School in January? The Curriculum Compacting Study. Research Monograph 94401).

    ERIC Educational Resources Information Center

    Reis, Sally M.; And Others

    This report presents an executive summary, in Spanish, of a study which examined the effects of curriculum compacting, a curriculum modification technique for gifted and talented students. The study involved approximately 436 elementary teachers and 783 students in 27 school districts throughout the United States. The study was designed to…

  8. Selection and processing of the spatial enhanced multispectral Landsat TM images - comparison between the results from merged and source data. (Polish Title: Selekcja i przetwarzanie wzmocnionych przestrzennie obrazów wielospektralnych Landsat TM - porównanie wyników opartych o dane scalone i dane zródłowe)

    NASA Astrophysics Data System (ADS)

    Pirowski, T.; Szczaciuk, G.

    2013-12-01

    The paper presents results of merging lower-resolution spectral data (Landsat, 30m) with panchromatic images of higher spatial resolution (IRS 5.8m). During the first stage of the research, thirty methods of merging satellite data (including their variants) have been tested. The first assessment was based on statistical measures covering spectral distortion and spatial enhancement of pansharpened images. The second assessment was based on the color composite factors essential for photo interpretation. Comparing both obtained ranks of methods revealed substantial differences in their assessed spectral distortion. On the other hand, there appeared similarities in the obtained values for the spatial enhancement of pansharpened images. The reasons of such discrepancies were defined. The research allowed appointing the HPF (High Pass Filter) and LCM (Local Correlation Modeling) methods as the best according to the tested factors. In the second part of the research, the applicability of the selected methods was tested. Information content of color composites was analyzed as well as tresholding and band ratioing. In the tests there were used images fused through five merging methods: HPF, LCM, IHS (Intensity, Hue, Saturation), PCA (Principal Components Analysis) and WMK (based on band ratioing and having specific photo interpretation features). The findings of the research suggest that none of the merging algorithms provide universal solution. Depending on the data processing technique used, the best results are based on images obtained from various integration methods. It means that the method ranks do not correspond with method applicability. Methods appointed as the best ones obtain poor results in some tests and methods which came low in the rank received high rank in some tests. If this conclusion becomes confirmed, it might be necessary to revise the assessment methods of merged images.

  9. Comparison of point clouds derived from aerial image matching with data from airborne laser scanning. (Polish Title: Porównanie wóaściwości chmury punktów wygenerowanej metodą dopasowania obrazów zdjęć lotniczych z danymi z lotniczego skanowania)

    NASA Astrophysics Data System (ADS)

    Dominik, W.

    2014-12-01

    The aim of this study was to investigate the properties of point clouds derived from aerial image matching and to compare them with point clouds from airborne laser scanning. A set of aerial images acquired in years 2010-2013 over the city of Elblag were used for the analysis. Images were acquired with the use of three digital cameras: DMC II 230, DMC I and DigiCAM60 with a GSD varying from 4.5 cm to 15 cm. Eight sets of images that were used in the study were acquired at different stages of the growing season - from March to December. Two LiDAR point clouds were used for the comparison - one with a density of 1.3 p/m2 and a second with a density of 10 p/m2. Based on the input images point clouds were created with the use of the semi-global matching method. The properties of the obtained point clouds were analyzed in three ways: - by the comparison of the vertical accuracy of point clouds with reference to a terrain profile surveyed on bare ground with GPS-RTK method - by visual assessment of point cloud profiles generated both from SGM and LiDAR point clouds - by visual assessment of a digital surface model generated from a SGM point cloud with reference to a digital surface model generated from a LiDAR point cloud. The conducted studies allowed a number of observations about the quality of SGM point clouds to be formulated with respect to different factors. The main factors having influence on the quality of SGM point clouds are GSD and base/height ratio. The essential problem related to SGM point clouds are areas covered with vegetation where SGM point clouds are visibly worse in terms of both accuracy and the representation of terrain surface. It is difficult to expect that in these areas SGM point clouds could replace LiDAR point clouds. This leads to a general conclusion that SGM point clouds are less reliable, more unpredictable and are dependent on more factors than LiDAR point clouds. Nevertheless, SGM point clouds generated with appropriate parameters can have better accuracy than LiDAR point clouds and present more detailed information about the terrain surface.

  10. The Impact of Regional Differences on Elementary School Teachers' Attitudes towards Their Students' Use of Code Switching in a South Texas School District (El impacto de las diferencias regionales en las actitudes de docentes de primaria respecto a la alternancia de códigos por parte de los estudiantes en un distrito escolar del sur de Texas)

    ERIC Educational Resources Information Center

    Nava Gómez, Guadalupe Nancy; García, Hilda

    2012-01-01

    This study focused on investigating whether the teachers' geographical distribution influences their attitudes towards their students' use of code switching. The study was guided by the following research question: Are there differences between teachers' opinions of the north elementary schools and teachers' opinions of the south elementary…

  11. Talking, Singing, Rhyming: Activities for Families with Children Ages 3 to 5 [Presented by]"Between the Lions[R]" = Hablar, cantar, recitar: Actividades para familias con ninos de 3 a 5 anos [presentado por]"Between the Lions[R]."

    ERIC Educational Resources Information Center

    WGBH-TV, Boston, MA.

    "Between the Lions" is a Public Broadcasting System program promoting literacy for children ages 4 through 7 years combining state-of-the-art puppetry, animation, live action, and music to achieve its mission of helping young children learn to read. This guide, in English- and Spanish-language versions, provides literacy activities for…

  12. Exploring with Technology: Activities for Families with Children Ages 3 to 5 [Presented by]"Between the Lions[R]" = Exploremos con tecnologia: Actividades para familias con ninos de 3 a 5 anos [presentado por]"Between the Lions[R]."

    ERIC Educational Resources Information Center

    WGBH-TV, Boston, MA.

    "Between the Lions" is a Public Broadcasting System program promoting literacy for children ages 4 through 7 years combining state-of-the-art puppetry, animation, live action, and music to achieve its mission of helping young children learn to read. This guide, in English- and Spanish-language versions, provides computer literacy…

  13. Reading with Children: Activities for Families with Children Ages 3 to 5 [Presented by]"Between the Lions[R]" = La lectura con los ninos: Actividades para familias con ninos de 3 a 5 anos [presentado por]"Between the Lions[R]."

    ERIC Educational Resources Information Center

    WGBH-TV, Boston, MA.

    "Between the Lions" is a Public Broadcasting System program promoting literacy for children ages 4 through 7 years combining state-of-the-art puppetry, animation, live action, and music to achieve its mission of helping young children learn to read. This guide, in English- and Spanish-language versions, provides literacy activities for…

  14. Words All around Us: Activities for Families with Children Ages 3 to 5 [Presented by]"Between the Lions[R]" = Palabras y palabras a nuestro alrededor: Actividades para familias con ninos de 3 a 5 anos [presentado por]"Between the Lions[R]."

    ERIC Educational Resources Information Center

    WGBH-TV, Boston, MA.

    "Between the Lions" is a Public Broadcasting System program promoting literacy for children ages 4 through 7 years combining state-of-the-art puppetry, animation, live action, and music to achieve its mission of helping young children learn to read. This guide, in English- and Spanish-language versions, provides literacy activities for…

  15. Measurement of the branching ratio for the doubly cabibbo suppressed decay D++ K-K+K+; Medida da razao de ramificacao do Decaimento D++ K-K+K+ duplamente suprimido por cabibbo

    SciTech Connect

    Silva Carvalho, Hendly da

    1997-07-01

    In this thesis, we performed a study for the decay modes D++ K-K+K+ and D+s+ K-K+K+, using the data collected by the E791, a hadroproduction of charm experiment at Fermilab. The D++ K-K+K+ decay is doubly Cabibbo suppressed while the D+s+ K-K+K+ decay is singly Cabibbo suppressed. We found 11.6 +- 3.9 events in the D+ mass region and 8.9 +- 3.3 in the D+s mass region. The D++ K-K+K+ branching ratio is measured to be (3.7 +- 1.3 +- 0.6) x 10-4 while the D++ K-K+K+ branching ratio relative to D+s+ K-K+K+ is measured to be (4.2 +- 1.5 +- 0.6) x 10-2.

  16. Modèle numérique de terrain comme outil pour contrôler et mesurer l'érosion de ravinsModelos digitales de elevación como un instrumento para seguir y medir erosión por cárcavas

    NASA Astrophysics Data System (ADS)

    Betts, Harley D.; DeRose, Ronald C.

    This paper describes the use of Digital Elevation Models (DEMs), constructed from sequential aerial photographs, as a tool for measuring gully erosion in a geomorphologically unstable environment. The technique is applied to a case study that examines erosion in 26 gullies in two study areas in the upper Waipaoa catchment, eastern North Island, New Zealand. Changes over two consecutive time periods, ranging in length from 14.0 years to 33.2 years, were studied at each site, drawing on available historical aerial photography. Several key aspects of the method used are described and discussed in detail, and recommendations are made for future application of DEMs for assessment of landscape change. DEM-measured gully degradation rates are directly proportional to the square root of the gully area.From this relationship it should be possible to rapidly estimate gully erosion at a catchment scale on the basis of gully areas alone. DEM-based measurement techniques, together with appropriate consideration for the sensitivity of the method, have significant cost and efficiency advantages over manual approaches to erosion measurements.

  17. A Visit to the Library: Activities for Families with Children Ages 3 to 5 [Presented by]"Between the Lions[R]" = Una visita a la biblioteca: Actividades para familias con ninos de 3 a 5 anos [presentado por]"Between the Lions[R]."

    ERIC Educational Resources Information Center

    WGBH-TV, Boston, MA.

    "Between the Lions" is a Public Broadcasting System program promoting literacy for children ages 4 through 7 years combining state-of-the-art puppetry, animation, live action, and music to achieve its mission of helping young children learn to read. This guide, in English- and Spanish-language versions, provides suggestions for parents…

  18. Los Hispanos: Problemas y Oportunidades. Resumen de la Actual Situacion Demografica, Economica, Social y Politica de los Hispanos en los Estados Unidos y de las Iniciativas Tomadas por la Fundacion Ford Para Hacer Frente a las Necesidades de esta Poblacion en Aumento y Determinar sus Efectos Sobre la Sociedad Estadounidense. Documento de Trabajo de la Fundacion Ford, No. 436.

    ERIC Educational Resources Information Center

    Ford Foundation, New York, NY.

    The Hispanic population's growing impact on American society has caused the Ford Foundation to explore new Foundation initiatives. The 1980 census revealed 14.6 million Hispanics: 60% Mexican American; 14% Puerto Rican; 6% Cuban, and 20% Other. The Hispanic population in the United States is growing and is characterized by diversity; rapid growth…

  19. For a Child, Life is a Creative Adventure: Supporting Development and Learning through Art, Music, Movement, and Dialogue. A Guide for Parents and Professionals. = Para los ninos, la vida es una aventura creativa: Como estimular el desarrollo y el aprendizaje por medio de las artes visuales, la musica, el movimiento y el dialogo. Guia para padres de familia y profesionales.

    ERIC Educational Resources Information Center

    Cohen, Elena

    Recognizing that creativity facilitates children's learning and development, the Head Start Program Performance Standards require Head Start programs to include opportunities for creative self-expression. This guide with accompanying videotape, both in English- and Spanish- language versions, encourages and assists adults to support children's…

  20. Palabras del Secretario de Educacion Publica en la reunion anual de directores de education federal e inspectores generales en los estados que se rigen por el calendario "A". (Address by the Minister of Education at the Annual Meeting of Directors of Federal Education and Inspectors General in Calendar "A" States).

    ERIC Educational Resources Information Center

    Yanez, Agustin

    This document is an English-language abstract (approximately 1,500 words) of a speech by the Mexican Minister of Education at an annual educators meeting. The Minister dealt with the administration and quality of education, the role of the directors and the duties towards them of the inspectors, and the main features of the reform of national…

  1. Mitigation of Disagreement in Peer Review among L2 Learners and Native Speakers in a College Writing Class (Mitigación del Impacto de las Opiniones de Desacuerdo en el Proceso de Revisión por Pares entre Estudiantes de una Segunda Lengua y Hablantes Nativos en una Clase de Escritura a Nivel Universitario)

    ERIC Educational Resources Information Center

    Christoffersen, Katherine O'Donnell

    2015-01-01

    Peer review is now a commonplace practice in process-oriented writing instruction. A crucial aspect of peer review is assessing another classmate's work, which encompasses the act of disagreement. Given its prevalence in the classroom, it is necessary to analyze how L2 learners mitigate disagreement in the context of peer review with other L2…

  2. Art and Writing: Activities for Families with Children Ages 3 to 5 [Presented by]"Between the Lions[R]" = Arte y escritura: Actividades para familias con ninos de 3 a 5 anos [presentado por]"Between the Lions[R]."

    ERIC Educational Resources Information Center

    WGBH-TV, Boston, MA.

    "Between the Lions" is a Public Broadcasting System program promoting literacy for children ages 4 through 7 years combining state-of-the-art puppetry, animation, live action, and music to achieve its mission of helping young children learn to read. This guide, in English- and Spanish-language versions, provides literacy activities for…

  3. Lo que los educadores necesitan saber sobre...El agrupamiento por habilidad [y] La compactacion del curriculum [y] Los alumnos dotados y el aprendizaje cooperativo [y] La actividad tutoral. Guias practica (What Educators Need To Know about...Ability Grouping [and] Curriculum Compacting [and] Gifted Students and Cooperative Learning [and] Mentoring. Practitioners' Guides).

    ERIC Educational Resources Information Center

    Siegle, Del, Ed.

    These four pamphlets in Spanish offer guidelines supported by theory-driven quality research that is problem-based, practice-relevant, and consumer-oriented. Each pamphlet has a section summarizing research from the literature or topic notes as well as implications for the classroom. The first guide offers principles for teachers concerning the…

  4. Evaluation de la qualité de modèles numériques de terrain dérivés par interférométrieEvaluación de la calidad de modelos digitales de elevación derivados por interferometría

    NASA Astrophysics Data System (ADS)

    Gens, Rüdiger

    One of the most important uses of SAR interferometry is in the generation of digital elevation models (DEMs). However, a standard procedure for quality estimation of DEMs does not exist. This paper proposes a method of quality estimation using an adapted Monte Carlo simulation, which has the advantage that it could be used in areas where appropriate reference DEMs are not available. This paper also addresses interferometric processing, with special emphasis on the influence of the input parameters. Practical implementation of the proposed technique is shown on a data set from Lower Saxony in Germany. The error map generated, which is a measure of the quality of the DEM, is also presented. For further analysis of the critical aspects of quality, a reference DEM has also been used.

  5. Análise de Associação por Todo o Genoma para Identificar Locos Relacionados ao Lucro Líquido, à Vida Produtiva e ao Escore de Células Somáticas na raça Jersey1

    Technology Transfer Automated Retrieval System (TEKTRAN)

    A genome scan was conducted in the US Jersey population to identify QTL affecting net merit, productive life, and somatic cell score. Data used at this study were DHI records from the national database of the Animal Improvement Programs Laboratory, USDA (Beltsville, MD). DNA was acquired for 2,380 a...

  6. Análisis clínico y epidemiológico de los accidentes por mordeduras de serpientes del género Bothrops en Venezuela [A clinical and epidemiological analysis of accidental bites by snakes of the genus Bothrops in Venezuela].

    PubMed

    Rodríguez Acosta, A; Uzcategui, W; Azuaje, R; Aguilar, I; Girón, M E

    2000-01-01

    Clinical register of 60 patients bitten by Bothrops snake who assisted at Leopoldo Manrique Hospital and the Institute of Tropical Medicine (HLM-IMT) in Caracas during 1996-1997 were analysed. The accident was more frequent in males (45/75%). In 32 cases (53.3%) the snake was classified and 26 were Bothrops lanceolatus, 4 Bothrops venezuelensis and 2 Bothrops atrox. Anatomic regions more frequent bitten were superior members (40/66.6%): hands (36/60%), forearm (2/3.3%), elbow (1/1.6%) and arm (1/1.6%). On inferior members (20/33.3%): legs (6/10%), feet (10/16.7%), ankle (2/3.3%), and the hip (2:3.3%). The most frequent clinical manifestations in moderate and severe cases (33 patient) were pain (100%), oedema (98%), ecchymosis (76%), blisters (20%), necrosis (12%), abscess (6%) bleeding (19%), heart failure (1/1.6%), renal failure (1/1.6%). The blood clotting was evaluated in 60 (100%) cases and it was altered in 33 (55%) patients. No deaths were recorded.

  7. A protein secretion system linked to bacteroidete gliding motility and pathogenesis

    PubMed Central

    Sato, Keiko; Naito, Mariko; Yukitake, Hideharu; Hirakawa, Hideki; Shoji, Mikio; McBride, Mark J.; Rhodes, Ryan G.; Nakayama, Koji

    2009-01-01

    Porphyromonas gingivalis secretes strong proteases called gingipains that are implicated in periodontal pathogenesis. Protein secretion systems common to other Gram-negative bacteria are lacking in P. gingivalis, but several proteins, including PorT, have been linked to gingipain secretion. Comparative genome analysis and genetic experiments revealed 11 additional proteins involved in gingipain secretion. Six of these (PorK, PorL, PorM, PorN, PorW, and Sov) were similar in sequence to Flavobacterium johnsoniae gliding motility proteins, and two others (PorX and PorY) were putative two-component system regulatory proteins. Real-time RT-PCR analysis revealed that porK, porL, porM, porN, porP, porT, and sov were down-regulated in P. gingivalis porX and porY mutants. Disruption of the F. johnsoniae porT ortholog resulted in defects in motility, chitinase secretion, and translocation of a gliding motility protein, SprB adhesin, to the cell surface, providing a link between a unique protein translocation system and a motility apparatus in members of the Bacteroidetes phylum. PMID:19966289

  8. A protein secretion system linked to bacteroidete gliding motility and pathogenesis.

    PubMed

    Sato, Keiko; Naito, Mariko; Yukitake, Hideharu; Hirakawa, Hideki; Shoji, Mikio; McBride, Mark J; Rhodes, Ryan G; Nakayama, Koji

    2010-01-05

    Porphyromonas gingivalis secretes strong proteases called gingipains that are implicated in periodontal pathogenesis. Protein secretion systems common to other Gram-negative bacteria are lacking in P. gingivalis, but several proteins, including PorT, have been linked to gingipain secretion. Comparative genome analysis and genetic experiments revealed 11 additional proteins involved in gingipain secretion. Six of these (PorK, PorL, PorM, PorN, PorW, and Sov) were similar in sequence to Flavobacterium johnsoniae gliding motility proteins, and two others (PorX and PorY) were putative two-component system regulatory proteins. Real-time RT-PCR analysis revealed that porK, porL, porM, porN, porP, porT, and sov were down-regulated in P. gingivalis porX and porY mutants. Disruption of the F. johnsoniae porT ortholog resulted in defects in motility, chitinase secretion, and translocation of a gliding motility protein, SprB adhesin, to the cell surface, providing a link between a unique protein translocation system and a motility apparatus in members of the Bacteroidetes phylum.

  9. Differential Regulation of Duplicate Light-Dependent Protochlorophyllide Oxidoreductases in the Diatom Phaeodactylum tricornutum

    PubMed Central

    Hunsperger, Heather M.; Cattolico, Rose Ann

    2016-01-01

    Background Diatoms (Bacilliariophyceae) encode two light-dependent protochlorophyllide oxidoreductases (POR1 and POR2) that catalyze the penultimate step of chlorophyll biosynthesis in the light. Algae live in dynamic environments whose changing light levels induce photoacclimative metabolic shifts, including altered cellular chlorophyll levels. We hypothesized that the two POR proteins may be differentially adaptive under varying light conditions. Using the diatom Phaeodactylum tricornutum as a test system, differences in POR protein abundance and por gene expression were examined when this organism was grown on an alternating light:dark cycles at different irradiances; exposed to continuous light; and challenged by a significant decrease in light availability. Results For cultures maintained on a 12h light: 12h dark photoperiod at 200μE m−2 s−1 (200L/D), both por genes were up-regulated during the light and down-regulated in the dark, though por1 transcript abundance rose and fell earlier than that of por2. Little concordance occurred between por1 mRNA and POR1 protein abundance. In contrast, por2 mRNA and POR2 protein abundances followed similar diurnal patterns. When 200L/D P. tricornutum cultures were transferred to continuous light (200L/L), the diurnal regulatory pattern of por1 mRNA abundance but not of por2 was disrupted, and POR1 but not POR2 protein abundance dropped steeply. Under 1200μE m−2 s−1 (1200L/D), both por1 mRNA and POR1 protein abundance displayed diurnal oscillations. A compromised diel por2 mRNA response under 1200L/D did not impact the oscillation in POR2 abundance. When cells grown at 1200L/D were then shifted to 50μE m−2 s−1 (50L/D), por1 and por2 mRNA levels decreased swiftly but briefly upon light reduction. Thereafter, POR1 but not POR2 protein levels rose significantly in response to this light stepdown. Conclusion Given the sensitivity of diatom por1/POR1 to real-time light cues and adherence of por2/POR2 regulation to

  10. JPRS Report, West Europe.

    DTIC Science & Technology

    1988-02-09

    finding its market in Jor- dan, Morocco, and Argentina . Outside of theBasque Country, he stresses Instalaza (Zaragoza), specializing in the Latin...30 por 100 J 3por100(Lf) fc 1por100(L$) (20) 4. £Cree qua las mujeres deben ir (2") SI ........... 36 poKlDO V No .......... 67 por 100

  11. Effect of dietary porphyran from the red alga, Porphyra yezoensis, on glucose metabolism in diabetic KK-Ay mice.

    PubMed

    Kitano, Yuki; Murazumi, Koki; Duan, Jingjing; Kurose, Kosuke; Kobayashi, Shunichi; Sugawara, Tatsuya; Hirata, Takashi

    2012-01-01

    Porphyran (POR) from the red alga Porphyra yezoensis is a water soluble dietary fiber. In this study, we investigated the effect of dietary POR on glucose metabolism in KK-Ay mice (a model for type 2 diabetes). Mice were divided into 4 groups and fed a diet containing 5% cellulose (control), POR, POR Arg or POR K. After 3 wk of feeding, plasma insulin levels and the calculated homeostasis model assessment-insulin resistance (HOMA-IR) index were significantly lower in the POR group than in the control group. Compared with the control group, plasma adiponectin levels were significantly increased in the POR, POR Arg and POR K groups. These results suggest that dietary POR should improve glucose metabolism in diabetes via up-regulation of adiponectin levels. In addition, the amount of propionic acid in the cecum of the POR group was significantly higher than in the control group and the profile of bacterial flora was changed by dietary POR. In the cecum of the POR, POR Arg and POR K groups, Bacteroides was significantly increased and Clostridium coccoides was significantly decreased compared with in the control group. The effects of dietary POR on the hindgut environment might contribute to the improvement of glucose metabolism.

  12. The structure of the human semilunar plica at different stages of its development--a morphological and morphometric study.

    PubMed

    Arends, Gunna; Schramm, Uda

    2004-06-01

    In this study development of the semilunar plica was examined histologycally by making sections through the eyes of eleven foetuses at different stages of gestation, two newborns and an old man. We found that in the early stages of its development the semilunar fold covered a bigger part of the orbit and later did not keep up with the growth of the eyeball and the lids. In its development three different kinds of germinal glands could be seen in the semilunar plica. Beside poorly differentiated buds of the surface epithelium which can be classified as rudiments of the nictitating or Harderian gland, serous glands were detected which could be beginnings of Krause's glands. Additionally, a new kind of plica gland was identified in which ductular structures, with an onion skin appearance, could be discriminated from mucous acini. The surface of the plica developed slowly by an increase in the layers of its epithelium as well as by the maturation of the epithelial cells from a two-layered cuboidal to a multi-layered cylindrical epithelium. In general the palpebral side of the plica consisted of a higher number of epithelial layers and more goblet cells than its bulbar side. Moreover, the surface of the palpebral side appeared more irregular and enlarged by numerous pleatings of its epithelium. The initially loose mesenchymal connective tissue was soon condensed by firstly an increase of the number of cells and later by an increase in the fibre density. In the tight collagenous connective tissue no elastic or reticular fibres or cartilaginous structures could be found. Very dense vascularization of the plica semilunaris was seen early in development. The blood vessels rising from the root of the plica divided themselves into a central and a subepithelial vascular net. Later on, some of them showed an enlarged lumen and were covered by a thin layer of muscle cells. A few unmyelinated neurofibres were found next to blood vessels and glands. Muscle cells could not be

  13. [How to quantify the severity of brain injury during intensive care after adult head trauma].

    PubMed

    Stocchetti, N; Canavesi, K; Longhi, L; Magnoni, S; Protti, A; Pagan, F; Colombo, A

    2003-04-01

    Adequate early assessment of brain damage is essential. Location, extension and severity of structural damage affect brain function and ultimately determine the outcome. The extent of functional impairment, and the morphology of intracranial lesions, require specific treatment, often a combination of medical and surgical interventions. Brain damage usually evolves over time, and repeated assessments are necessary. Clinical evaluation is often biased by concomitant sedation and/or anesthesia, but remains necessary. A revision of the literature is presented. Brain damage is assessed combining clinical and instrumental data. Clinical examination is performed assessing the 3 components of the Glasgow Coma Scale. Spontaneous or stimulated (pain stimulus) eye opening, verbal and motor responses are observed after hemodynamic and respiratory stabilisation. Unfortunately a significant proportion of patients can not be properly examined for several reasons: eye opening can be altered by palpebral and facial injuries, verbal response can be impaired by maxillo-facial injuries or by endotracheal intubation, and motor response remains the most consistent parameter. Sedation, analgesia and myorelaxants, however, can profoundly diminish or abolish the motor response to maximal stimulation, so that examination should be performed after clearance of drugs. Often alcohol or other substances can further impair the neurological performances. Pupils diameter and reactivity to light should be observed, excluding pharmacologic effects (as dilation due to catecholamines) and direct ocular or orbital damage. The CT scan is necessary for disclosing surgical masses and for identifying the extent of diffuse damage and the location of focal lesions. These data should be combined with additional functional exploration, as provided by cerebral extraction of oxygen and electrophysiologic data. Early estimation of cerebral damage is complex and prone to mistakes. Accurate, repeated evaluations

  14. Treatment Effects and Sequelae of Radiation Therapy for Orbital Mucosa-Associated Lymphoid Tissue Lymphoma

    SciTech Connect

    Hata, Masaharu; Omura, Motoko; Koike, Izumi; Tomita, Naoto; Iijima, Yasuhito; Tayama, Yoshibumi; Odagiri, Kazumasa; Minagawa, Yumiko; Ogino, Ichiro; Inoue, Tomio

    2011-12-01

    Purpose: Among extranodal lymphomas, orbital mucosa-associated lymphoid tissue (MALT) lymphoma is a relatively rare presentation. We performed a review to ascertain treatment efficacy and toxicity of radiation therapy for orbital MALT lymphoma. We also evaluated changes in visual acuity after irradiation. Methods and Materials: Thirty patients with orbital MALT lymphoma underwent radiation therapy with curative intent. Clinical stages at diagnosis were stage I{sub E}A in 29 patients and stage II{sub E}A in 1 patient. Total doses of 28.8 to 45.8 Gy (median, 30 Gy) in 15 to 26 fractions (median, 16 fractions) were delivered to the tumors. Results: All irradiated tumors were controlled during the follow-up period of 2 to 157 months (median, 35 months) after treatment. Two patients had relapses that arose in the cervical lymph node and the ipsilateral palpebral conjunctiva outside the radiation field at 15 and 67 months after treatment, respectively. The 5-year local progression-free and relapse-free rates were 100% and 96%, respectively. All 30 patients are presently alive; the overall and relapse-free survival rates at 5 years were 100% and 96%, respectively. Although 5 patients developed cataracts of grade 2 at 8 to 45 months after irradiation, they underwent intraocular lens implantation, and their eyesight recovered. Additionally, there was no marked deterioration in the visual acuity of patients due to irradiation, with the exception of cataracts. No therapy-related toxicity of grade 3 or greater was observed. Conclusions: Radiation therapy was effective and safe for patients with orbital MALT lymphoma. Although some patients developed cataracts after irradiation, visual acuity was well preserved.

  15. A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

    PubMed Central

    Fernández, Luis; Nevado, Julián; Santos, Fernando; Heine-Suñer, Damià; Martinez-Glez, Victor; García-Miñaur, Sixto; Palomo, Rebeca; Delicado, Alicia; Pajares, Isidora López; Palomares, María; García-Guereta, Luis; Valverde, Eva; Hawkins, Federico; Lapunzina, Pablo

    2009-01-01

    Background Individuals affected with DiGeorge and Velocardiofacial syndromes present with both phenotypic diversity and variable expressivity. The most frequent clinical features include conotruncal congenital heart defects, velopharyngeal insufficiency, hypocalcemia and a characteristic craniofacial dysmorphism. The etiology in most patients is a 3 Mb recurrent deletion in region 22q11.2. However, cases of infrequent deletions and duplications with different sizes and locations have also been reported, generally with a milder, slightly different phenotype for duplications but with no clear genotype-phenotype correlation to date. Methods We present a 7 month-old male patient with surgically corrected ASD and multiple VSDs, and dysmorphic facial features not clearly suggestive of 22q11.2 deletion syndrome, and a newborn male infant with cleft lip and palate and upslanting palpebral fissures. Karyotype, FISH, MLPA, microsatellite markers segregation studies and SNP genotyping by array-CGH were performed in both patients and parents. Results Karyotype and FISH with probe N25 were normal for both patients. MLPA analysis detected a partial de novo 1.1 Mb deletion in one patient and a novel partial familial 0.4 Mb duplication in the other. Both of these alterations were located at a distal position within the commonly deleted region in 22q11.2. These rearrangements were confirmed and accurately characterized by microsatellite marker segregation studies and SNP array genotyping. Conclusion The phenotypic diversity found for deletions and duplications supports a lack of genotype-phenotype correlation in the vicinity of the LCRC-LCRD interval of the 22q11.2 chromosomal region, whereas the high presence of duplications in normal individuals supports their role as polymorphisms. We suggest that any hypothetical correlation between the clinical phenotype and the size and location of these alterations may be masked by other genetic and/or epigenetic modifying factors. PMID

  16. A New Notosuchian from the Late Cretaceous of Brazil and the Phylogeny of Advanced Notosuchians

    PubMed Central

    Pol, Diego; Nascimento, Paulo M.; Carvalho, Alberto B.; Riccomini, Claudio; Pires-Domingues, Ricardo A.; Zaher, Hussam

    2014-01-01

    A new notosuchian crocodyliform from the Late Cretaceous Bauru Group found in the southeastern State of São Paulo (Brazil) is described here. The new taxon, Caipirasuchus stenognathus, is referred as a new species of the recently erected genus Caipirasuchus within the clade Sphagesauridae based on a phylogenetic analysis of basal mesoeucrocodylians. Caipirasuchus stenognathus is represented by an almost complete skull and lower jaw that has autapomorphic characters that distinguish it from other species of Sphagesauridae. These autapomorphies include: maxilla forming part of the orbital margin (absence of lacrimal-jugal contact), nasal with smooth depressions on the posterior region close to the contact with the maxilla and lacrimal, postorbital with posterior palpebral facet that extends posteriorly underneath the ear-flap groove, and a distinct anterior process of the medial flange of the retroarticular process. Additionally, the new taxon lacks autapomorphic features described in other sphagesaurids. The phylogenetic analysis results in a monophyletic genus Caipirasuchus, that is the sister group of a clade fomed by Sphagesaurus huenei, Caryonosuchus pricei, and Armadillosuchus arrudai. Sphagesaurids also include a basal clade formed by Adamantinasuchus navae and Yacarerani boliviensis. Other notosuchian taxa, such as Mariliasuchus amarali, Labidiosuchus amicum, Notosuchus terrestris, and Morrinhosuchus luziae are successive sister taxa of Sphagesauridae, forming a clade of advanced notosuchians that are restricted to the Late Cretaceous of South America. These results contrast with most previous phylogenetic hypotheses of the group that depicted some members of Sphagesauridae as more closely related to baurusuchids, or found Asian (e.g., Chimaerasuchus) or African (Malawisuchus, Pakasuchus) forms nested within advanced notosuchians that are, according to our analysis, endemic of the Late Cretaceous of South America. PMID:24695105

  17. [The cat cry (cri du chat) syndrome: report of a case with review of 10 cases at the National Taiwan University Hospital].

    PubMed

    Chuang, S M; Wang, T R; Jean, H H; Lee, F Y

    1989-06-01

    The cat cry (cri du chat) syndrome is a rare congenital anomaly due to partial deletion of the short arm of the No. 5 chromosome. Since the first report of Lejeune et al, in 1963, nearly 400 cases have been reported. However, the syndrome with a ring chromosome is still very rare and only 10 cases were reported up to 1988, since the first report of Rohde and Tompkins in 1965. To investigate the chromosomal changes in the patients of cat cry syndrome, a chromosomal study was carried out on 10 cases of cat cry syndrome from 5,870 cases submitted to the Laboratory of Cytogenetics, National Taiwan University Hospital from Nov. 1968 through Apr. 1988. These ten cases included 3 males and 7 females (M:F = 1:2.3) aged 2 days to 18 months with an average of 5.5 months. The most common clinical features are: cat-like cry, growth failure, microcephaly with mental retardation, round face with facial abnormalities including hypertelorism, downward slanting palpebral fissures, micrognathia and low-set ears, and simian crease. Laryngomalacia or underdevelopment of the larynx may be a factor causing the cat-like cry. On chromosome analysis, 8 out of these 10 cases showed the usual simple deletion of the short arm of the no. 5 chromosome, and the other 2 cases revealed ring chromosome including a case of pure ring chromosome([(4, XY, r (5)] and a case of mosaicism with one ring chromosome, 2 ring chromosomes and simple deletion of the short arm of the No. 5 chromosome.(ABSTRACT TRUNCATED AT 250 WORDS)

  18. PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.

    PubMed

    Low, Karen J; Ansari, Morad; Abou Jamra, Rami; Clarke, Angus; El Chehadeh, Salima; FitzPatrick, David R; Greenslade, Mark; Henderson, Alex; Hurst, Jane; Keller, Kory; Kuentz, Paul; Prescott, Trine; Roessler, Franziska; Selmer, Kaja K; Schneider, Michael C; Stewart, Fiona; Tatton-Brown, Katrina; Thevenon, Julien; Vigeland, Magnus D; Vogt, Julie; Willems, Marjolaine; Zonana, Jonathan; Study, D D D; Smithson, Sarah F

    2017-03-22

    PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly, craniofacial, renal and cardiac defects. Very similar phenotypes have been described in six patients with variants in PUF60, suggesting that it underlies the syndrome. We report 12 additional patients with PUF60 variants who were ascertained using exome sequencing: six through the Deciphering Developmental Disorders Study and six through similar projects. Detailed phenotypic analysis of all patients was undertaken. All 12 patients had de novo heterozygous PUF60 variants on exome analysis, each confirmed by Sanger sequencing: four frameshift variants resulting in premature stop codons, three missense variants that clustered within the RNA recognition motif of PUF60 and five essential splice-site (ESS) variant. Analysis of cDNA from a fibroblast cell line derived from one of the patients with an ESS variants revealed aberrant splicing. The consistent feature was developmental delay and most patients had short stature. The phenotypic variability was striking; however, we observed similarities including spinal segmentation anomalies, congenital heart disease, ocular colobomata, hand anomalies and (in two patients) unilateral renal agenesis/horseshoe kidney. Characteristic facial features included micrognathia, a thin upper lip and long philtrum, narrow almond-shaped palpebral fissures, synophrys, flared eyebrows and facial hypertrichosis. Heterozygote loss-of-function variants in PUF60 cause a phenotype comprising growth/developmental delay and craniofacial, cardiac, renal, ocular and spinal anomalies, adding to disorders of human development resulting from aberrant RNA processing/spliceosomal function.European Journal of Human Genetics advance online publication, 22 March 2017; doi:10.1038/ejhg.2017.27.

  19. A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant

    PubMed Central

    2013-01-01

    Background We report on a 6-year-old Turkish boy with profound sensorineural deafness, balance disorder, severe disorder of oral motor function, and mild developmental delay. Further findings included scaphocephaly, plagiocephaly, long palpebral fissures, high narrow palate, low-set posteriorly rotated ears, torticollis, hypoplastic genitalia and faulty foot posture. Parents were consanguineous. Methods and results Computed tomography and magnetic resonance imaging showed bilateral single widened cochlear turn, narrowing of the internal auditory canal, and bilateral truncation of the vestibulo-cochlear nerve. Microarray analysis and next generation sequencing showed a homozygous deletion of chromosome 5q31.1 spanning 115.3 kb and including three genes: NEUROG1 (encoding neurogenin 1), DCNP1 (dendritic cell nuclear protein 1, C5ORF20) and TIFAB (TIFA-related protein). The inability to chew and swallow, deafness and balance disorder represented congenital palsies of cranial nerves V (trigeminal nerve) and VIII (vestibulo-cochlear nerve) and thus a congenital cranial dysinnervation disorder. Conclusions Based on reported phenotypes of neurog1 null mutant mice and other vertebrates, we strongly propose NEUROG1 as the causative gene in this boy. The human NEUROG1 resides within the DFNB60 locus for non-syndromic autosomal recessive deafness on chromosome 5q22-q31, but linkage data have excluded it from being causative in the DFNB60 patients. Given its large size (35 Mb, >100 genes), the 5q22-q31 area could harbor more than one deafness gene. We propose NEUROG1 as a new gene for syndromic autosomal recessive hearing loss and congenital cranial dysinnervation disorder including cranial nerves V and VIII. PMID:23419067

  20. Developmental delays and locomotor activity in the C57BL6/J mouse following neonatal exposure to the fully-brominated PBDE, decabromodiphenyl ether.

    PubMed

    Rice, Deborah C; Reeve, Elizabeth A; Herlihy, Aleece; Zoeller, R Thomas; Thompson, W Douglas; Markowski, Vincent P

    2007-01-01

    After several decades of commercial use, the flame retardant chemicals polybrominated diphenyl ethers (PBDEs) and their metabolites have become pervasive environmental contaminants with a global distribution. PBDEs have entered the food chain and increasing levels can be detected in the human body. Decabrominated diphenyl ether (decaBDE) is currently the most widely used of the PBDEs in the United States. Despite its widespread use, little is known about the health effects of decaBDE. The current study examined the effects of neonatal exposure to decaBDE in the inbred C57BL6/J mouse. Neonatal male and female mice were exposed to a daily oral dose of 0, 6, or 20 mg/kg decaBDE from postnatal day 2 to 15. Three groups of endpoints were examined: the ontogeny of sensorimotor responses and serum thyroxine levels in immature animals, and locomotor activity in adult animals. In immature animals, 20 mg/kg/day produced developmental delays in the acquisition of the palpebral reflex. At this age, exposed males also showed a dose-related reduction of serum thyroxine levels. As adults, decaBDE exposure altered the normal sex- and age-specific characteristics of spontaneous locomotor activity. The most striking effect was an increase of activity during the first 1.5 h of the 2 h assessment in males exposed to 20 mg/kg/day decaBDE. These effects suggest that decaBDE is a developmental neurotoxicant that can produce long-term behavioral changes following a discrete period of neonatal exposure.

  1. Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.

    PubMed

    Long, Ashleigh; Sinkovskaya, Elena S; Edmondson, Andrew C; Zackai, Elaine; Schrier Vergano, Samantha A

    2016-12-01

    Kabuki syndrome (MIM 147920) is a well-described, multiple congenital anomaly syndrome characterized by growth and developmental delay, cardiac, renal, and vertebral anomalies, as well as persistent fetal finger pads and distinct facial features. Facies are characterized by long palpebral fissures with eversion of lateral third of the lower eyelid, resembling the "Kabuki make-up" theatre genre after which the syndrome is named. Kabuki syndrome is estimated to affect 1/32,000 births, with 55-80% of patients showing nonsense or frameshift mutations in the KMT2D (MLL2) gene, which encodes a histone transferase located on chromosome 12q. Additionally, owing to the heterogeneous nature of Kabuki syndrome, a smaller number of diagnosed patients have been identified with mutations or deletions in KDM6A (a component of the same transcriptional complex as KMT2D) with no mutations in KMT2D, or as those diagnosed with Kabuki syndrome and without alterations in either KMT2D or KDM6A. Diagnosis of the syndrome in newborns and infants is difficult, as the facial features are not as evident as in toddler- or childhood. There are no known "tell-tale" signs of Kabuki syndrome prenatally, and there are no reports of common, specific findings in fetuses that might suggest the diagnosis. We present here two infants who presented with prenatal hydrops/ascites, who were subsequently diagnosed with Kabuki syndrome. Although relatively non-specific, we suggest that Kabuki syndrome be added to the list of genetic syndromes that are suspected in cases of prenatal hydrops, review the molecular etiology of Kabuki syndrome, and broaden the phenotype of this well-described disorder. © 2016 Wiley Periodicals, Inc.

  2. Regulation of water permeability in rabbit conjunctival epithelium by anisotonic conditions.

    PubMed

    Candia, Oscar A; Alvarez, Lawrence J; Zamudio, Aldo C

    2006-04-01

    Effects of unilateral exposure to anisotonic conditions on diffusional water permeability of the isolated rabbit conjunctiva were determined. A segment of the bulbar-palpebral conjunctiva was mounted between Ussing-type hemichambers under short-circuit conditions. Unidirectional water fluxes (J(dw)) were measured in either direction by adding (3)H(2)O to one hemichamber and sampling from the other. Electrical parameters were measured simultaneously. J(dw) were determined under control isosmotic conditions and after introduction of either hyper- or hypotonic solutions against the tear or stromal sides of the preparations. In each of these four separate conditions, the anisotonic medium produced an approximately 20-30% reduction in J(dw) across the tissue, with the exception that to obtain such reduction with increased tonicity from the stromal side (medium osmolality increased by adding sucrose), conditions presumptively inhibiting regulatory volume increase mechanisms (e.g., pretreatment with amiloride and bumetanide) were also required. All reductions in J(dw) elicited by the various anisotonic conditions were reversible on restoration of control tonicity. In experiments in which preparations were pretreated with the protein cross-linking agent glutaraldehyde, anisotonicity-elicited reductions in J(dw) were not observed. Such reductions were also not observed in the presence of HgCl(2), implying the involvement of aquaporins. However, it is possible that the mercurial may be toxic to the epithelium, preventing the tonicity response. Nevertheless, from concomitant changes in transepithelial electrical resistance, as well as [(14)C]mannitol fluxes, [(14)C]butanol fluxes, and Arrhenius plots, arguments are presented that the above effects are best explained as a cell-regulated reduction in membrane water permeability that occurs at the level of water-transporting channels. Presumably both apical and basolateral membranes can downregulate their water permeabilities as

  3. Outcome prediction of advanced mantle cell lymphoma by international prognostic index versus different mantle cell lymphoma indexes: one institution study.

    PubMed

    Todorovic, Milena; Balint, Bela; Andjelic, Bosko; Stanisavljevic, Dejana; Kurtovic, Nada Kraguljac; Radisavljevic, Ziv; Mihaljevic, Biljana

    2012-09-01

    The aim of this study was to evaluate the prognostic significance of international prognostic index (IPI), mantle cell lymphoma IPI (MIPI), simplified MIPI (sMIPI), and MIPI biological (MIPIb), as well as their correlation with immunophenotype, clinical characteristics, and overall survival (OS), in a selected group of 54 patients with advanced-stage mantle cell lymphoma (MCL), treated uniformly with CHOP. Seventeen patients had IV clinical stage (CS), while other 37 had leukemic phase at presentation. Diffuse type of marrow infiltration was verified in 68.5% and nodular in remainder patients. Extranodal localization (25.9%) included bowel (20.4%), pleural effusion, sinus, and palpebral infiltration. All of analyzed patients expressed typical MCL immunophenotypic profile: CD19(+)CD20(+)CD22(+)CD5(+)Cyclin-D1(+)FMC7(+)CD79b(+)smIg(+)CD38(+/-)CD23(-)CD10(-). Median OS of the whole group was 23 months, without significant differences between IV CS and leukemic phase patients. Thirty-two patients (59.3%) responded to initial treatment, 9 (16.7%) with complete and 23 (42.6%) with partial remission. Negative prognostic influence on OS had high IPI (P < 0.01), high sMIPI (P < 0.001), MIPI (P < 0.01), MIPIb (P < 0.01), extranodal localization (P < 0.01), and diffuse marrow infiltration (P < 0.01). Testing between randomly selected groups showed that patients with lower proportion of CD5(+) cells (<80%) correlated with cytological blastoid variant and had shorter survival comparing with the group with higher proportion of CD5(+) cells (>80%) (P < 0.01). Using univariate Cox regression, we proved that IPI, sMIPI, MIPI, and MIPIb had an independent predictive importance (P < 0.01) for OS in uniformly treated advanced MCL patients, although sMIPI prognostic significance was the highest (P < 0.001).

  4. A Randomized, Placebo-Controlled Clinical Trial of Tacrolimus Ophthalmic Suspension 0.1% in Severe Allergic Conjunctivitis

    PubMed Central

    Ebihara, Nobuyuki; Fujishima, Hiroshi; Fukushima, Atsuki; Kumagai, Naoki; Nakagawa, Yayoi; Namba, Kenichi; Okamoto, Shigeki; Shoji, Jun; Takamura, Etsuko; Hayashi, Kunihiko

    2010-01-01

    Aims To examine the efficacy of tacrolimus ophthalmic suspension 0.1% in treating severe allergic conjunctivitis. Methods This was a multicenter, randomized, double-masked, placebo-controlled clinical trial. Fifty-six patients with severe allergic conjunctivitis in whom topical antiallergic agents and corticosteroids had been ineffective were randomized to tacrolimus or placebo treatment. Patients were treated either with tacrolimus or placebo twice-daily for 4 weeks. Severity of objective signs in palpebral and bulbar conjunctiva, limbus, and corneal involvement was assessed using 4 grades. Seven subjective symptoms were evaluated by visual analog scale (VAS) assessment. The primary efficacy endpoint was change in the total score of objective signs at the end of treatment. The secondary efficacy endpoints included change in the score for each objective sign and change in the VAS for each subjective symptom. Safety was assessed based on the severity and the incidence of adverse events. Results Mean change from baseline in total score for objective signs was significantly greater in the tacrolimus (−5.6 ± 5.1) than in the placebo group (−0.1 ± 4.5; P < 0.001). Tacrolimus significantly improved giant papillae (P = 0.001) and corneal involvement (P = 0.005). Five subjective symptoms (itching, discharge, hyperemia, lacrimation, and foreign body sensation) were significantly better in the tacrolimus than in the placebo group. The most frequent treatment-related adverse event in the tacrolimus group was mild ocular irritation upon topical instillation, which was well-tolerated. Conclusion Tacrolimus ophthalmic suspension 0.1% is effective in treating severe allergic conjunctivitis. PMID:20307214

  5. Jacobsen syndrome without thrombocytopenia: a case report and review of the literature.

    PubMed

    Nalbantoğlu, Burçin; Donma, M Metin; Nişli, Kemal; Paketçi, Cem; Karasu, Erkut; Ozdilek, Burcu; Mintaş, Nuriye Ece

    2013-01-01

    Jacobsen syndrome (JS), a rare disorder with multiple dysmorphic features, is caused by the terminal deletion of chromosome 11q. Typical features include mild to moderate psychomotor retardation, trigonocephaly, facial dysmorphism, cardiac defects, and thrombocytopenia, though none of these features are invariably present. The estimated occurrence of JS is about 1/100,000 births. The female/male ratio is 2:1. The patient admitted to our clinic at 3.5 years of age with a cardiac murmur and facial anomalies. Facial anomalies included trigonocephaly with bulging forehead, hypertelorism, telecanthus, downward slanting palpebral fissures, and a carp-shaped mouth. The patient also had strabismus. An echocardiogram demonstrated perimembranous aneurysmatic ventricular septal defect and a secundum atrial defect. The patient was <3rd percentile for height and weight and showed some developmental delay. Magnetic resonance imaging (MRI) showed hyperintensive gliotic signal changes in periventricular cerebral white matter, and leukodystrophy was suspected. Chromosomal analysis of the patient showed terminal deletion of chromosome 11. The karyotype was designated 46, XX, del(11) (q24.1). A review of published reports shows that the severity of the observed clinical abnormalities in patients with JS is not clearly correlated with the extent of the deletion. Most of the patients with JS had short stature, and some of them had documented growth hormone deficiency, or central or primary hypothyroidism. In patients with the classical phenotype, the diagnosis is suspected on the basis of clinical findings: intellectual disability, facial dysmorphic features and thrombocytopenia. The diagnosis must be confirmed by cytogenetic analysis. For patients who survive the neonatal period and infancy, the life expectancy remains unknown. In this report, we describe a patient with the clinical features of JS without thrombocytopenia. To our knowledge, this is the first case reported from Turkey.

  6. Noonan syndrome

    PubMed Central

    van der Burgt, Ineke

    2007-01-01

    Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasias. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein. Recently, mutations in the KRAS gene have been identified in a small proportion of patients with NS. A DNA test for mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. NS should be considered in all foetuses with polyhydramnion, pleural effusions, oedema and increased nuchal fluid with a normal karyotype. With special care and counselling, the majority of children with NS will grow up and function normally in the adult world. Management should address feeding problems in early childhood, evaluation of cardiac function and assessment of growth and motor development. Physiotherapy and/or speech therapy should be offered if indicated. A complete eye examination and hearing evaluation should be performed during the first few years of schooling. Preoperative coagulation studies are indicated. Signs and symptoms lessen with age and most adults with NS do not require special medical care. PMID:17222357

  7. [Lengthening temporalis myoplasty: A new approach to facial rehabilitation with the "mirror-effect" method].

    PubMed

    Blanchin, T; Martin, F; Labbe, D

    2013-12-01

    Peripheral facial paralysis often reveals two conditions that are hard to control: labial occlusion and palpebral closure. Today, there are efforts to go beyond the sole use of muscle stimulation techniques, and attention is being given to cerebral plasticity stimulation? This implies using the facial nerves' efferent pathway as the afferent pathway in rehabilitation. This technique could further help limit the two recalcitrant problems, above. We matched two groups of patients who underwent surgery for peripheral facial paralysis by lengthening the temporalis myoplasty (LTM). LTM is one of the best ways to examine cerebral plasticity. The trigeminal nerve is a mixed nerve and is both motor and sensory. After a LTM, patients have to use the trigeminal nerve differently, as it now has a direct role in generating the smile. The LTM approach, using the efferent pathway, therefore, creates a challenge for the brain. The two groups followed separate therapies called "classical" and "mirror-effect". The "mirror-effect" method gave a more precise orientation of the patient's cerebral plasticity than did the classical rehabilitation. The method develops two axes: voluntary movements patients need to control their temporal smile; and spontaneous movements needed for facial expressions. Work on voluntary movements is done before a "digital mirror", using an identical doubled hemiface, providing the patient with a fake copy of his face and, thus, a 7 "mirror-effect". The spontaneous movements work is based on what we call the "Therapy of Motor Emotions". The method presented here is used to treat facial paralysis (Bell's Palsies type), whether requiring surgery or not. Importantly, the facial nerve, like the trigeminal nerve above, is also a mixed nerve and is stimulated through the efferent pathway in the same manner.

  8. Is NF-1 gene deletion the molecular mechanism of neurofibromatosis type 1 with destinctive facies?

    SciTech Connect

    Leppig, K.A.; Stephens, K.G.; Viskochill, D.; Kaplan, P.

    1994-09-01

    We have studied a patient with neurofibromatosis type 1 and unusual facial features using fluorescence in situ hybridization (FISH) and found that the patient had a deletion that minimially encompasses exon 2-11 of the NF-1 gene. The patient was one of two individuals initially described by Kaplan and Rosenblatt who suggested that another condition aside from neurofibromatosis type 1 may account for the unusual facial features observed in these patients with neurofibromatosis type 1. FISH studies were performed using a P1 clone probe, P1-9, which contains exons 2-11 of the NF-1 gene on chromosomes prepared from the patients. In all 20 metaphase cells analyzed, one of the chromosome 17 homologues was deleted for the P1-9 probe. Therefore, this patient had neurofibromatosis type 1 and unusual facial features as the result of a deletion which minimally includes exons 2-11 of the NF-1 gene. The extent of the deletion is being mapped by FISH and somatic cell hybrid analysis. The patient studied was a 7-year-old male with mild developmental delays, normal growth parameters, and physical findings consistent with neurofibromatosis type 1, including multiple cafe au lait spots, several curaneous neurofibroma, and speckling of the irises. In addition, his unusual facial features consisted of telecanthus, antimongoloid slant of the palpebral fissures, a broad base of the nose, low set and mildly posteriorly rotated ears, thick helices, high arched palate, short and pointed chin, and low posterior hairline. We propose that deletions of the NF-1 gene and/or contiguous genes are the etiology of neurofibromatosis type 1 and unusual facial features. This particular facial appearance was inherited from the patient`s mother and has been described in other individuals with neurofibromatosis type 1. We are using FISH to rapidly screen patients with this phenotype for large deletions involving the NF-1 gene and flanking DNA sequences.

  9. Neural crest development in fetal alcohol syndrome.

    PubMed

    Smith, Susan M; Garic, Ana; Flentke, George R; Berres, Mark E

    2014-09-01

    Fetal alcohol spectrum disorder (FASD) is a leading cause of neurodevelopmental disability. Some affected individuals possess distinctive craniofacial deficits, but many more lack overt facial changes. An understanding of the mechanisms underlying these deficits would inform their diagnostic utility. Our understanding of these mechanisms is challenged because ethanol lacks a single receptor when redirecting cellular activity. This review summarizes our current understanding of how ethanol alters neural crest development. Ample evidence shows that ethanol causes the "classic" fetal alcohol syndrome (FAS) face (short palpebral fissures, elongated upper lip, deficient philtrum) because it suppresses prechordal plate outgrowth, thereby reducing neuroectoderm and neural crest induction and causing holoprosencephaly. Prenatal alcohol exposure (PAE) at premigratory stages elicits a different facial appearance, indicating FASD may represent a spectrum of facial outcomes. PAE at this premigratory period initiates a calcium transient that activates CaMKII and destabilizes transcriptionally active β-catenin, thereby initiating apoptosis within neural crest populations. Contributing to neural crest vulnerability are their low antioxidant responses. Ethanol-treated neural crest produce reactive oxygen species and free radical scavengers attenuate their production and prevent apoptosis. Ethanol also significantly impairs neural crest migration, causing cytoskeletal rearrangements that destabilize focal adhesion formation; their directional migratory capacity is also lost. Genetic factors further modify vulnerability to ethanol-induced craniofacial dysmorphology and include genes important for neural crest development, including shh signaling, PDFGA, vangl2, and ribosomal biogenesis. Because facial and brain development are mechanistically and functionally linked, research into ethanol's effects on neural crest also informs our understanding of ethanol's CNS pathologies.

  10. Are 22q11.2 distal deletions associated with math difficulties?

    PubMed

    Carvalho, Maria Raquel Santos; Vianna, Gabrielle; Oliveira, Lívia de Fátima Silva; Costa, Annelise Julio; Pinheiro-Chagas, Pedro; Sturzenecker, Rosane; Zen, Paulo Ricardo Gazzola; Rosa, Rafael Fabiano Machado; de Aguiar, Marcos José Burle; Haase, Vitor Geraldi

    2014-09-01

    Approximately 6% of school-aged children have math difficulties (MD). A neurogenetic etiology has been suggested due to the presence of MD in some genetic syndromes such as 22q11.2DS. However, the contribution of 22q11.2DS to the MD phenotype has not yet been investigated. This is the first population-based study measuring the frequency of 22q11.2DS among school children with MD. Children (1,564) were identified in the schools through a screening test for language and math. Of these children, 152 (82 with MD and 70 controls) were selected for intelligence, general neuropsychological, and math cognitive assessments and for 22q11.2 microdeletion screening using MLPA. One child in the MD group had a 22q11.2 deletion spanning the LCR22-4 to LCR22-5 interval. This child was an 11-year-old girl with subtle anomalies, normal intelligence, MD attributable to number sense deficit, and difficulties in social interactions. Only 19 patients have been reported with this deletion. Upon reviewing these reports, we were able to characterize a new syndrome, 22q11.2 DS (LCR22-4 to LCR22-5), characterized by prematurity; pre- and postnatal growth restriction; apparent hypotelorism, short/upslanting palpebral fissures; hypoplastic nasal alae; pointed chin and nose; posteriorly rotated ears; congenital heart defects; skeletal abnormalities; developmental delay, particularly compromising the speech; learning disability (including MD, in one child); intellectual disability; and behavioral problems. These results suggest that 22q11.2 DS (LCR22-4 to LCR22-5) may be one of the genetic causes of MD.

  11. Conjunctival Flora in Diabetic and Nondiabetic Individuals

    PubMed Central

    Adam, Mehmet; Balcı, Mehmet; Bayhan, Hasan Ali; İnkaya, Ahmet Çağkan; Uyar, Mehmet; Gürdal, Canan

    2015-01-01

    Objectives: To evaluate the conjunctival bacterial flora in diabetic patients and nondiabetic subjects. Materials and Methods: Fifty-three diabetic patients and 43 nondiabetic healthy individuals were included in the study. A specimen was taken from each participant for the study by rubbing a sterile cotton-tipped swab on the inferior palpebral conjunctiva of the right eye. Samples were incubated in blood agar, chocolate agar, eosin methylene-blue lactose sucrose agar and sabouraud 4% dextrose agar. Isolated microorganisms were identified using routine microbiological methods. Results: Rates for bacterial isolations were determined as 38.5% in diabetic patients and 34.9% in nondiabetic controls. Staphylococcus aureus was isolated in 30% of cases in the diabetic patient group, while 20% tested positive for Escherichia coli, 10% for coagulase-negative Staphylococcus, 10% for Klebsiella pneumoniae and 30% for multiple bacteria. In the non-diabetic group, 53.3% of patients were positive for Staphylococcus aureus while coagulase-negative Staphylococcus was isolated in 26.7%, Klebsiella pneumoniae in 6.7% and multiple bacteria in 13.3% of patients. Although there was no statistically significant difference in the number of isolated bacteria between the diabetic and nondiabetic groups, gram-negative bacterial colonization was significantly higher in diabetic patients (χ2=0.129, p=0.719 and χ2=5.60, p=0.018, respectively). Conclusion: Gram-negative bacteria are more common in the conjunctival flora of diabetic patients. This should be considered by clinicians when treating ocular infections in diabetic patients. PMID:27800231

  12. Comparison of facial features of DiGeorge syndrome (DGS) due to deletion 10p13-10pter with DGS due to 22q11 deletion

    SciTech Connect

    Goodship, J.; Lynch, S.; Brown, J.

    1994-09-01

    DiGeorge syndrome (DGS) is a congenital anomaly consisting of cardiac defects, aplasia or hypoplasia of the thymus and parathroid glands, and dysmorphic facial features. The majority of DGS cases have a submicroscopic deletion within chromosome 22q11. However there have been a number of reports of DGS in association with other chromosomal abnormalities including four cases with chromosome 10p deletions. We describe a further 10p deletion case and suggest that the facial features in children with DGS due to deletions of 10p are different from those associated with chromosome 22 deletions. The propositus was born at 39 weeks gestation to unrelated caucasian parents, birth weight 2580g (10th centile) and was noted to be dysmorphic and cyanosed shortly after birth. The main dysmorphic facial features were a broad nasal bridge with very short palpebral fissures. Echocardiography revealed a large subsortic VSD and overriding aorta. She had a low ionised calcium and low parathroid hormone level. T cell subsets and PHA response were normal. Abdominal ultrasound showed duplex kidneys and on further investigation she was found to have reflux and raised plasma creatinine. She had an anteriorly placed anus. Her karyotype was 46,XX,-10,+der(10)t(3;10)(p23;p13)mat. The dysmorphic facial features in this baby are strikingly similar to those noted by Bridgeman and Butler in child with DGS as the result of a 10p deletion and distinct from the face seen in children with DiGeorge syndrome resulting from interstitial chromosome 22 deletions.

  13. Evaluation of metomidate hydrochloride as an anesthetic in leopard frogs (Rana pipiens).

    PubMed

    Doss, Grayson A; Nevarez, Javier G; Fowlkes, Natalie; da Cunha, Anderson F

    2014-03-01

    Metomidate hydrochloride is an imidazole-based, nonbarbiturate hypnotic drug primarily used as an immersion sedation and anesthetic agent in freshwater and marine finfish. To the authors' knowledge, there is no documentation in the literature of its use in amphibians. In this study, 7 male and 4 female leopard frogs (Rana pipiens) were induced with metomidate hydrochloride via immersion bath at a concentration of 30 mg/L for 60 min. The pH of the induction solution ranged from 7.63 to 7.75. Each frog was then removed from the induction solution, rinsed, and recovered in 26.6 degrees C amphibian Ringer's solution. After 210 min in the Ringer's solution, the frogs were transferred to moist paper towels for recovery. Heart rate, gular and abdominal respiration rates, righting reflex, superficial and deep pain withdrawal reflexes, corneal and palpebral reflexes, and escape response were monitored and recorded at defined intervals during both induction and recovery. The average time to loss of righting reflex and escape response was 17.36 min and 17.82 min, respectively. Metomidate produced clinical sedation in all frogs (n = 11). Surgical anesthesia was achieved in only 27% (3/11), with an anesthetic duration that ranged from 9 to 20 min. Recovery times were extremely prolonged and varied, with a range from 313 min to longer than 600 min. The findings of this study indicate that metomidate hydrochloride is unsuitable as a sole anesthetic agent in leopard frogs, and further research is needed to evaluate its suitability in other amphibians.

  14. Cnbp ameliorates Treacher Collins Syndrome craniofacial anomalies through a pathway that involves redox-responsive genes

    PubMed Central

    de Peralta, Mauro S Porcel; Mouguelar, Valeria S; Sdrigotti, María Antonella; Ishiy, Felipe A A; Fanganiello, Roberto D; Passos-Bueno, Maria R; Coux, Gabriela; Calcaterra, Nora B

    2016-01-01

    Treacher Collins Syndrome (TCS) is a rare congenital disease (1:50 000 live births) characterized by craniofacial defects, including hypoplasia of facial bones, cleft palate and palpebral fissures. Over 90% of the cases are due to mutations in the TCOF1 gene, which codifies the nucleolar protein Treacle. Here we report a novel TCS-like zebrafish model displaying features that fully recapitulate the spectrum of craniofacial abnormalities observed in patients. As it was reported for a Tcof1+/− mouse model, Treacle depletion in zebrafish caused reduced rRNA transcription, stabilization of Tp53 and increased cell death in the cephalic region. An increase of ROS along with the overexpression of redox-responsive genes was detected; furthermore, treatment with antioxidants ameliorated the phenotypic defects of craniofacial anomalies in TCS-like larvae. On the other hand, Treacle depletion led to a lowering in the abundance of Cnbp, a protein required for proper craniofacial development. Tcof1 knockdown in transgenic zebrafish overexpressing cnbp resulted in barely affected craniofacial cartilage development, reinforcing the notion that Cnbp has a role in the pathogenesis of TCS. The cnbp overexpression rescued the TCS phenotype in a dose-dependent manner by a ROS-cytoprotective action that prevented the redox-responsive genes' upregulation but did not normalize the synthesis of rRNAs. Finally, a positive correlation between the expression of CNBP and TCOF1 in mesenchymal cells from both control and TCS subjects was found. Based on this, we suggest CNBP as an additional target for new alternative therapeutic treatments to reduce craniofacial defects not only in TCS but also in other neurocristopathies. PMID:27711076

  15. Natural history of graves' orbitopathy after treatment.

    PubMed

    Menconi, Francesca; Leo, Marenza; Sabini, Elena; Mautone, Teresa; Nardi, Marco; Sainato, Aldo; Sellari-Franceschini, Stefano; Vitti, Paolo; Marcocci, Claudio; Marinò, Michele

    2016-10-05

    Intravenous glucocorticoids are used for Graves' orbitopathy, alone or associated with/followed by additional treatments (orbital radiotherapy, orbital decompression, palpebral or eye surgery). However, the relation between associated/additional treatments and other variables with Graves' orbitopathy outcome following intravenous glucocorticoids is not clear. Thus, the present study was conducted to investigate retrospectively the impact of associated/additional treatments and other variables on Graves' orbitopathy outcome after intravenous glucocorticoids. We evaluated 226 untreated Graves' orbitopathy patients. Following first observation, patients were given intravenous glucocorticoids and re-examined after a median of 46.5 months. The end-points were the relation between Graves' orbitopathy outcome, outcome of NOSPECS score and of the single Graves' orbitopathy features with several variables, including associated/additional treatments. All Graves' orbitopathy features improved significantly after treatment. Overall, Graves' orbitopathy improved in ~60 % of patients (responders), whereas it was stable or worsened in ~40 % of patients (non-responders). Time between first and last observation and clinical activity score at first observation correlated significantly with Graves' orbitopathy outcome. The outcomes of NOSPECS, eyelid aperture, clinical activity score and diplopia correlated with time between the first and last observation. The NOSPECS outcome correlated with gender. The outcomes of proptosis, eyelid aperture and visual acuity correlated with orbital decompression. The outcome of diplopia correlated with orbital radiotherapy. Taking into account the limitations of retrospective investigations, our findings confirm that time (i.e. the natural history of Graves' orbitopathy) is a key factor in determining the long-term outcome of Graves' orbitopathy, radiotherapy is effective for diplopia, and orbital decompression is followed by an amelioration of

  16. Influence of the chirality of (R)-(-)- and (S)-(+)-carvone in the central nervous system: a comparative study.

    PubMed

    de Sousa, Damião Pergentino; de Farias Nóbrega, Franklin Ferreira; de Almeida, Reinaldo Nóbrega

    2007-05-05

    Many terpenes are used therapeutically, and as flavor and fragrance materials. (R)-(-)-Carvone, the main constituent of spearmint oil, and (S)-(+)-carvone, found as major component of caraway and dill seed oils, have several applications and are used in cosmetic, food, and pharmaceutical preparations. In this study, the effect of enantiomers of carvone on the central nervous system (CNS) was evaluated in mice. The LD50 value was 484.2 mg/kg (358.9-653.2) for (S)-(+)-carvone, and 426.6 (389.0-478.6) mg/kg for (R)-(-)-carvone. Both enantiomers caused depressant effects, such as decrease in the response to the touch and ambulation, increase in sedation, palpebral ptosis, and antinociceptive effects. (S)-(+)- and (R)-(-)-carvone caused a significant decrease in ambulation. (R)-(-)-Carvone appeared to be more effective than its corresponding enantiomer at 0.5 and 2.0 h after administration. However, (S)-(+)-carvone was slightly more potent at 1 h. In potentiating pentobarbital sleeping time, (R)-(-)-carvone was more effective than (S)-(+)-carvone at 100 mg/kg, but was less potent at 200 mg/kg compared to the (+)-enantiomer, indicating a sedative action. (S)-(+)-Carvone at the dose of 200 mg/kg increased significantly the latency of convulsions induced by PTZ and PIC, but (R)-(-)-carvone was not effective against these convulsions. These results suggest that (S)-(+)-carvone and (R)-(-)-carvone have depressant effect in the CNS. (S)-(+)-Carvone appears to have anticonvulsant-like activity.

  17. Facial Dysmorphism Across the Fetal Alcohol Spectrum

    PubMed Central

    Suttie, Michael; Foroud, Tatiana; Wetherill, Leah; Jacobson, Joseph L.; Molteno, Christopher D.; Meintjes, Ernesta M.; Hoyme, H. Eugene; Khaole, Nathaniel; Robinson, Luther K.; Riley, Edward P.; Jacobson, Sandra W.

    2013-01-01

    OBJECTIVE: Classic facial characteristics of fetal alcohol syndrome (FAS) are shortened palpebral fissures, smooth philtrum, and thin upper vermillion. We aim to help pediatricians detect facial dysmorphism across the fetal alcohol spectrum, especially among nonsyndromal heavily exposed (HE) individuals without classic facial characteristics. METHODS: Of 192 Cape Coloured children recruited, 69 were born to women who reported abstaining from alcohol during pregnancy. According to multifaceted criteria, the remainder were allocated clinically to the FAS (n = 22), partial FAS (n = 26) or nonsyndromal HE (n = 75) categories. We used dense surface modeling and signature analyses of 3-dimensional facial photographs to determine agreement between clinical categorization and classifications induced from face shape alone, to visualize facial differences, and to consider predictive links between face shape and neurobehavior. RESULTS: Face classification achieved significant agreement with clinical categories for discrimination of nonexposed from FAS alone (face: 0.97–1.00; profile: 0.92) or with the addition of partial FAS (face: 0.90; profile: 0.92). Visualizations of face signatures delineated dysmorphism across the fetal alcohol spectrum and in half of the nonsyndromal HE category face signature graphs detected facial characteristics consistent with prenatal alcohol exposure. This subgroup performed less well on IQ and learning tests than did nonsyndromal subjects without classic facial characteristics. CONCLUSIONS: Heat maps and morphing visualizations of face signatures may help clinicians detect facial dysmorphism across the fetal alcohol spectrum. Face signature graphs show potential for identifying nonsyndromal heavily exposed children who lack the classic facial phenotype but have cognitive impairment. PMID:23439907

  18. Iridium-192 interstitial brachytherapy for equine periocular tumours: treatment results and prognostic factors in 115 horses.

    PubMed

    Théon, A P; Pascoe, J R

    1995-03-01

    One hundred and fifteen horses with periocular tumours were treated with iridium-192 interstitial brachytherapy. Tumours included squamous cell carcinomas (n = 52) and sarcoids (n = 63). All horses were scheduled to receive 60 Gy (minimal tumour dose) given at a low dose rate (0.034 +/- 0.010 Gy/h). The mean and median follow-up times to last contact or death were 24 and 16 months, respectively. Chronic radiation reactions included palpebral fibrosis (10.4%), cataract (7.8%), keratitis and corneal ulceration (6.9%). Cosmetic changes included permanent epilation (21.7%) and hair dyspigmentation (78.3%). The one year progression-free survival (PFS) rates for sarcoids and carcinomas were 86.6% and 81.8% and the 5 year PFS rates were 74.0% and 63.5%, respectively. The horse age and sex, histopathological type, anatomical subsite and classification (WHO T1-3) were included in the analysis of prognostic factors. The only significant prognostic factor that independently affected PFS time was the WHO T-classification (P = 0.009, relative risk = 0.85). When compared to horses with T1 lesions, horses with T2 and T3 lesions had 1.8-fold and 3.4-fold increased risks, respectively, for tumour recurrence (relative excess risk). The one year PFS rates for T1, T2 and T3 lesions were 95.2%, 89.5% and 66.2%, respectively. The 5 year PFS rates were 72.2%, 74.0% and 53.1%, respectively. The results of this study indicate that irradiation is an effective treatment option for horses with T1-2 lesions and should be part of a combined treatment modality for horses with T3 lesions.

  19. A patient with ascending aortic dilatation, similar to phenotypes of connective tissue disorders.

    PubMed

    Onrat, S T; Emmiler, M; Sivaci, Y; Söylemez, Z; Ozgöz, A; Imirzalioğlu, N

    2009-04-14

    We report on the clinical and molecular findings of a patient who presented alopecia, epicanthus, micrognathia, retrognathia, high arched palate, hypertelorism, Chiari type I malformation, mixed-type hearing loss but with normal heartbeat Q-T interval, malformed earlobes, down-slanted palpebral fissures, downturned corners of the mouth, syndactyly, atopic eczema, and seizures. The patient was a male adult, 23 years old, with short stature (153 cm) and low weight (50.5 kg), due to severe aortic insufficiency and dilatation of the ascending aorta. Conventional cytogenetic screening did not show any chromosomal gains or losses. Molecular genetic screening was conducted for gene mutations involved in various syndromes; the mutations found included [beta-fibrinogen -455 G>A wt/wt (wt/mut), PAI-1 4G/5G (4G/4G), HPA1 a/b (a/a), MTHFR C677T wt/wt (wt/mut), ACE I/D (I/I), and Apo E E3/E4]. Many clinical and molecular genetics findings overlapped with other conditions associated with arterial tortuosity and arterial aneurysms, including the Marfan, Ehler-Danlos, Shprintzen-Goldberg, and Loeys-Dietz syndromes. Although a diagnosis of Shprintzen-Goldberg syndrome was based on clinical findings and radiographic findings indicate other syndromes, aortic root dilatation seems to be a new symptom, similar to phenotypes of connective tissue disorders. The unique grouping of clinical manifestations in this patient and the molecular genetics findings lead us to suggest that this case could be an example of a previously unrecognized syndrome.

  20. Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

    PubMed Central

    Grassi, Marcília S.; Jacob, Cristina M. A.; Kulikowski, Leslie D.; Pastorino, Antonio C.; Dutra, Roberta L.; Miura, Nana; Jatene, Marcelo B.; Pegler, Stephanie P.; Kim, Chong A.; Carneiro-Sampaio, Magda

    2014-01-01

    Background To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD). Objective To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. Methods The study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M:F=1.3, age range 14 days to 20 years and 3 months) at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18) and/or MLPA (n = 42), in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed. Results CHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%). Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60%) and/or elongated nose (53.3%), narrow palpebral fissure (50%), dysplastic, overfolded ears (48.3%), thin lips (41.6%), elongated fingers (38.3%) and short stature (36.6%). Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH) level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM) in two other patients. Conclusion Suspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients. PMID:25317860

  1. A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation.

    PubMed

    Pramparo, Tiziano; de Gregori, Manuela; Gimelli, Stefania; Ciccone, Roberto; Frondizi, Domenico; Liehr, Thomas; Pellacani, Simona; Masi, Gabriele; Brovedani, Paola; Zuffardi, Orsetta; Guerrini, Renzo

    2008-07-01

    We identified a duplication of 22q13.1-q13.2 in a 10-year-old girl and demonstrated that this duplication was the recombinant product of a maternal intrachromosomal insertion. Phenotypic characteristics included prominent forehead, small low-set ears, hypertelorism, epicanthal folds, small palpebral fissures, short philtrum, and syndactyly. MRI of the brain revealed high signal abnormalities in the periventricular white matter, a hypoplastic corpus callosum, under-rotated hippocampus on the left and atrophic hippocampus on the right. Since age 5, the child's behavior has shown cyclic maniacal episodes with severely disorganized mood and behavior. Psychiatric and cognitive assessment led to a diagnosis of bipolar disorder not otherwise specified, manic episodes, attention deficit hyperactivity disorder and moderate mental retardation. Array-CGH revealed an interstitial duplication of 6.9 Mb at chromosome 22q: dup(22)(q13.1q13.2). FISH using BAC clones confirmed the array-CGH results and demonstrated that the duplication was inverted. G-banding analysis in the proposita's mother revealed a banding pattern suggestive of an intrachromosomal insertion, as demonstrated by dual-color FISH with BACs that were duplicated in the proposita and multicolor-banding (MCB) based on microdissection derived region-specific libraries for chromosome 22. Our findings suggest that in both seemingly de novo deletions and duplications, the parent transmitting the imbalance should be investigated for possible balanced rearrangements. This report reinforces previous evidence that chromosome imbalances, and thus gene dosage effects, may be at the basis of some psychiatric disorders. Stringent correlations between submicroscopic imbalances, specific behavioral phenotypes and brain imaging will possibly help in dissecting complex behavioral traits.

  2. 22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.

    PubMed

    Portnoï, Marie-France; Lebas, Fanny; Gruchy, Nicolas; Ardalan, Azarnouche; Biran-Mucignat, Valérie; Malan, Valérie; Finkel, Lina; Roger, Gilles; Ducrocq, Sarah; Gold, Francis; Taillemite, Jean-Louis; Marlin, Sandrine

    2005-08-15

    Twenty-one patients, including our two cases, with variable clinical phenotype, ranging from mild learning disability to severe congenital malformations or overlapping features with DiGeorge/velocardiofacial syndromes (DG/VCFS), have been shown to have a chromosome duplication 22q11 of the region that is deleted in patients with DG/VCFS. The reported cases have been identified primarily by interphase FISH and could have escaped identification and been missed by routine cytogenetic analysis. Here we report on two inherited cases, referred to us, to rule out 22q11 microdeletion diagnosis of VCFS. The first patient was a 2-month-old girl, who presented with cleft palate, minor dysmorphic features including short palpebral fissures, widely spaced eyes, long fingers, and hearing loss. Her affected mother had mild mental retardation and learning disabilities. The second patient was a 7(1/2)-year-old boy with velopharyngeal insufficiency and mild developmental delay. He had a left preauricular tag, bifida uvula, bilateral fifth finger clinodactyly, and bilateral cryptorchidism. His facial features appeared mildly dysmorphic with hypertelorism, large nose, and micro/retrognathia. The affected father had mild mental retardation and had similar facial features. FISH analysis of interphase cells showed three TUPLE1-probe signals with two chromosome-specific identification probes in each cell. FISH analysis did not show the duplication on the initial testing of metaphase chromosomes. On review, band q11.2 was brighter on one chromosome 22 in some metaphase spreads. The paucity of reported cases of 22q11.2 microduplication likely reflects a combination of phenotypic diversity and the difficulty of diagnosis by FISH analysis on metaphase spreads. These findings illustrate the importance of scanning interphase nuclei when performing FISH analysis for any of the genomic disorders.

  3. Growth hormone, gender and face shape in Prader-Willi syndrome.

    PubMed

    de Souza, Mauren Abreu; McAllister, Catherine; Suttie, Michael; Perrotta, Concetta; Mattina, Teresa; Faravelli, Francesca; Forzano, Francesca; Holland, Anthony; Hammond, Peter

    2013-10-01

    Prader-Willi syndrome is a neurodevelopmental disorder resulting from the absence of expression of paternally expressed gene(s) in a highly imprinted region of chromosome 15q11-13. The physical phenotype includes evidence of growth retardation due to relative growth hormone deficiency, small hands and feet, a failure of normal secondary sexual development, and a facial appearance including narrow bifrontal diameter, almond-shaped palpebral fissures, narrow nasal root, and thin upper vermilion with downturned corners of the mouth. Anecdotally, the face of individuals with PWS receiving hGH treatment is said to "normalize." We used dense surface modelling and shape signature techniques to analyze 3D photogrammetric images of the faces of 72 affected and 388 unaffected individuals. We confirmed that adults with Prader-Willi syndrome who had never received human growth supplementation displayed known characteristic facial features. Facial growth was significantly reduced in these adults, especially in males. We demonstrated that following human growth hormone (hGH) supplementation, vertical facial growth of affected individuals falls within the normal range. However, lateral and periorbital face shape and nose shape differences in affected children who have received hGH therapy remain sufficiently strong to be significantly discriminating in comparisons with age-sex matched, unaffected individuals. Finally, we produced evidence that age at initiation and length of treatment with hGH do not appear to play a role in normalization or in consistent alteration of the face shape of affected individuals. This is the first study to provide objective shape analysis of craniofacial effects of hGH therapy in Prader-Willi syndrome.

  4. KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3

    PubMed Central

    Chen, Jingchang; Ye, Qingqing; Deng, Daming; Yan, Jianhua; Lin, Houbian; Shen, Tao; Lin, Ying

    2016-01-01

    Congenital fibrosis of the extraocular muscles (CFEOM) is a hereditary ocular disease and can be classified into three subtypes. The aim of the present study was to determine the genetic basis and describe the clinical phenotype of CFEOM type 1 and 3. Two Chinese families with CFEOM type 1 and 3 were identified. The patients and their family members were subjected to comprehensive ophthalmic examinations, including best-corrected visual acuity, slit-lamp examination, fundus examination, assessment of palpebral fissure size, levator function, ocular motility, and cover and forced duction tests. Genomic DNA was extracted from the leukocytes of venous blood samples collected from the two families and from 200 unrelated control subjects from the same population. Coding exons of the KIF21A gene were amplified using polymerase chain reaction analysis and sequenced directly in the two probands. The detected mutations were further analyzed in all available family members and the unrelated control subjects. A heterozygous mutation, c.2860C>T (p.R954W), in KIF21A was identified in the two families, and this was cosegregated with the presence of the diseases in the two families, however, it was absent in the 200 normal control subjects. Among the three affected family members with CFEOM1, differences were observed with regard to the presence of aberrant eye movement. The results indicated that, in the patients with CFEOM1 and CFEOM3, the disease was caused by the same KIF21A gene mutation. The KIF21A gene may be a major disease-causing gene for Chinese patients with CFEOM3. Phenotypic heterogeneity was observed in the patients with CFEOM1. PMID:27513105

  5. Neural Crest Development in Fetal Alcohol Syndrome

    PubMed Central

    Smith, Susan M.; Garic, Ana; Flentke, George R.; Berres, Mark E.

    2016-01-01

    Fetal alcohol spectrum disorder (FASD) is a leading cause of neurodevelopmental disability. Some affected individuals possess distinctive craniofacial deficits, but many more lack overt facial changes. An understanding of the mechanisms underlying these deficits would inform their diagnostic utility. Our understanding of these mechanisms is challenged because ethanol lacks a single receptor when redirecting cellular activity. This review summarizes our current understanding of how ethanol alters neural crest development. Ample evidence shows that ethanol causes the “classic” fetal alcohol syndrome (FAS) face (short palpebral fissures, elongated upper lip, deficient philtrum) because it suppresses prechordal plate outgrowth, thereby reducing neuroectoderm and neural crest induction and causing holoprosencephaly. Prenatal alcohol exposure (PAE) at premigratory stages elicits a different facial appearance, indicating FASD may represent a spectrum of facial outcomes. PAE at this premigratory period initiates a calcium transient that activates CaMKII and destabilizes transcriptionally active β-catenin, thereby initiating apoptosis within neural crest populations. Contributing to neural crest vulnerability are their low antioxidant responses. Ethanol-treated neural crest produce reactive oxygen species, and free radical scavengers attenuate their production and prevent apoptosis. Ethanol also significantly impairs neural crest migration, causing cytoskeletal rearrangements that destabilize focal adhesion formation; their directional migratory capacity is also lost. Genetic factors further modify vulnerability to ethanol-induced craniofacial dysmorphology, and include genes important for neural crest development including shh signaling, PDFGA, vangl2, and ribosomal biogenesis. Because facial and brain development are mechanistically and functionally linked, research into ethanol’s effects on neural crest also informs our understanding of ethanol’s CNS pathologies

  6. IgG4-related skin disease.

    PubMed

    Tokura, Y; Yagi, H; Yanaguchi, H; Majima, Y; Kasuya, A; Ito, T; Maekawa, M; Hashizume, H

    2014-11-01

    IgG4-related disease (IgG4-RD) is a recently established clinical entity characterized by high levels of circulating IgG4, and tissue infiltration of IgG4(+) plasma cells. IgG4-RD exhibits a distinctive fibroinflammatory change involving multiple organs, such as the pancreas and salivary and lacrimal glands. The skin lesions of IgG4-RD have been poorly characterized and may stem not only from direct infiltration of plasma cells but also from IgG4-mediated inflammation. Based on the documented cases together with ours, we categorized the skin lesions into seven subtypes: (1) cutaneous plasmacytosis (multiple papulonodules or indurations on the trunk and proximal part of the limbs), (2) pseudolymphoma and angiolymphoid hyperplasia with eosinophilia (plaques and papulonodules mainly on the periauricular, cheek and mandible regions), (3) Mikulicz disease (palpebral swelling, sicca syndrome and exophthalmos), (4) psoriasis-like eruption (strikingly mimicking psoriasis vulgaris), (5) unspecified maculopapular or erythematous eruptions, (6) hypergammaglobulinaemic purpura (bilateral asymmetrical palpable purpuric lesions on the lower extremities) and urticarial vasculitis (prolonged urticarial lesions occasionally with purpura) and (7) ischaemic digit (Raynaud phenomenon and digital gangrene). It is considered that subtypes 1-3 are induced by direct infiltration of IgG4(+) plasma cells, while the other types (4-7) are caused by secondary mechanisms. IgG4-related skin disease is defined as IgG4(+) plasma-cell-infiltrating skin lesions that form plaques, nodules or tumours (types 1-3), but may manifest secondary lesions caused by IgG4(+) plasma cells and/or IgG4 (types 4-7).

  7. Cnbp ameliorates Treacher Collins Syndrome craniofacial anomalies through a pathway that involves redox-responsive genes.

    PubMed

    de Peralta, Mauro S Porcel; Mouguelar, Valeria S; Sdrigotti, María Antonella; Ishiy, Felipe A A; Fanganiello, Roberto D; Passos-Bueno, Maria R; Coux, Gabriela; Calcaterra, Nora B

    2016-10-06

    Treacher Collins Syndrome (TCS) is a rare congenital disease (1:50 000 live births) characterized by craniofacial defects, including hypoplasia of facial bones, cleft palate and palpebral fissures. Over 90% of the cases are due to mutations in the TCOF1 gene, which codifies the nucleolar protein Treacle. Here we report a novel TCS-like zebrafish model displaying features that fully recapitulate the spectrum of craniofacial abnormalities observed in patients. As it was reported for a Tcof1(+/-) mouse model, Treacle depletion in zebrafish caused reduced rRNA transcription, stabilization of Tp53 and increased cell death in the cephalic region. An increase of ROS along with the overexpression of redox-responsive genes was detected; furthermore, treatment with antioxidants ameliorated the phenotypic defects of craniofacial anomalies in TCS-like larvae. On the other hand, Treacle depletion led to a lowering in the abundance of Cnbp, a protein required for proper craniofacial development. Tcof1 knockdown in transgenic zebrafish overexpressing cnbp resulted in barely affected craniofacial cartilage development, reinforcing the notion that Cnbp has a role in the pathogenesis of TCS. The cnbp overexpression rescued the TCS phenotype in a dose-dependent manner by a ROS-cytoprotective action that prevented the redox-responsive genes' upregulation but did not normalize the synthesis of rRNAs. Finally, a positive correlation between the expression of CNBP and TCOF1 in mesenchymal cells from both control and TCS subjects was found. Based on this, we suggest CNBP as an additional target for new alternative therapeutic treatments to reduce craniofacial defects not only in TCS but also in other neurocristopathies.

  8. High altitude and the eye: a case controlled study in clinical ocular anthropometry of changes in the eye.

    PubMed

    Bali, Jatinder; Chaudhary, K P; Thakur, Renu

    2005-01-01

    Tribal natives of two spatially separate districts of Lahaul-Spiti (mean altitude = 3300 m) and Kinnaur (mean altitude = 1,700 m) in the Himalayan state of Himachal Pradesh have lived for centuries as closed isolated groups, marrying within the local community up to the recent past. Studies on highland natives in the Andes have shown differences in chest diameters, lung volumes, hematocrit, and the like, in those living at high altitudes. We wanted to study whether stay at high altitude for generations confers any change in the ocular anthropometry. No study of this nature is available in the literature. We studied the ocular parameters using Snellen's charts, Standard Royal-Air-Force Rule, A-2,500 Sonomed A-Scan, Goldmann's aplanation tonometer, and S-7,000 Autorefractometer on 50 healthy volunteers at the Indira Gandhi Medical College Out Patient Department at Shimla (mean altitude = 2,100 m). Those living at higher altitudes in Lahaul-Spiti [LS] (n = 10) had significantly wider nose bridge width (p < 0.05); inter-inner canthal distance [IICD] (p < 0.05); inter-outer canthal distance [IOCD] (p < 0.05); and interpupillary distance [IPD] (p < 0.05) than the group living at Kinnaur (n = 40) at lower elevation. The LS group also had narrower palpebral fissure length in the vertical dimension (p = 0.05) and a lower IOP (p = 0.002) than the Kinnaur group. The axial length, lens thickness, and anterior chamber depth were comparable in the two groups. It appears that the eye and its adnexa respond to hypoxia, ultraviolet radiations, and persistent snow cover at high altitude by altering its anthropometry in a subtle but discernible manner. This was a hitherto unexplored area in the literature. Further studies to elucidate and substantiate the findings of the study are indicated.

  9. Prickly Pear Spine Keratoconjunctivitis

    PubMed Central

    Odat, Thabit Ali Mustafa; Al-Tawara, Mohammad Jebreel; Hammouri, Eman Hussein

    2014-01-01

    Objectives: To study the ocular and extra-ocular features, clinical presentation, and treatment of prickly pear glochids. Materials and Methods: This retrospective study included 23 eyes of 21 patients with ocular prickly pear spines who were seen between August and October 2011 in the outpatient ophthalmic clinic at Prince Rashid Bin Al Hassan military hospital in Jordan. Medical records of patients including age, gender, history of exposure to prickly pear plants, and ocular examination were reviewed. All glochids were localized and removed with forceps under topical anesthesia with the patient at the slit lamp. Patients were followed up after one week. Results: The mean age of patients was 37.1 years with a male to female ratio of 1.6: 1. Involvement of the right eye was seen in 61.9% patients, left eye in 28.6% patients, and bilateral involvement in 9.5% patients. Glochids were most commonly found in the upper subtarsal conjunctival space (47.6%) followed by inferior palpebral conjunctiva in 23.8% eyes. The most common complaint was eye irritation in 95.2% patients. Pain was a complaint in 57.1% patients. Superior corneal epithelial erosions or ulcer were found in 33.3% patients, inferior corneal epithelial erosions in 19.1% patients, and diffuse epithelial erosions in 9.5% patients. Glochids were found in other parts of the body in 38.1% patients. Conclusion: Although prickly pear glochid ocular surface injury is not uncommon in the region during summer, it should be considered in patient with eye pain during that period. Farmers who are in close contact with prickly pears should use protective eyeglasses and gloves. PMID:24669148

  10. Neuro-ophthalmological approach to facial nerve palsy

    PubMed Central

    Portelinha, Joana; Passarinho, Maria Picoto; Costa, João Marques

    2014-01-01

    Facial nerve palsy is associated with significant morbidity and can have different etiologies. The most common causes are Bell’s palsy, Ramsay–Hunt syndrome and trauma, including surgical trauma. Incidence varies between 17 and 35 cases per 100,000. Initial evaluation should include accurate clinical history, followed by a comprehensive investigation of the head and neck, including ophthalmological, otological, oral and neurological examination, to exclude secondary causes. Routine laboratory testing and diagnostic imaging is not indicated in patients with new-onset Bell’s palsy, but should be performed in patients with risk factors, atypical cases or in any case without resolution within 4 months. Many factors are involved in determining the appropriate treatment of these patients: the underlying cause, expected duration of nerve dysfunction, anatomical manifestations, severity of symptoms and objective clinical findings. Systemic steroids should be offered to patients with new-onset Bell’s palsy to increase the chance of facial nerve recovery and reduce synkinesis. Ophthalmologists play a pivotal role in the multidisciplinary team involved in the evaluation and rehabilitation of these patients. In the acute phase, the main priority should be to ensure adequate corneal protection. Treatment depends on the degree of nerve lesion and on the risk of the corneal damage based on the amount of lagophthalmos, the quality of Bell’s phenomenon, the presence or absence of corneal sensitivity and the degree of lid retraction. The main therapy is intensive lubrication. Other treatments include: taping the eyelid overnight, botulinum toxin injection, tarsorrhaphy, eyelid weight implants, scleral contact lenses and palpebral spring. Once the cornea is protected, longer term planning for eyelid and facial rehabilitation may take place. Spontaneous complete recovery of Bell’s palsy occurs in up to 70% of cases. Long-term complications include aberrant regeneration

  11. CHARGE association in a child with de novo inv dup (14)(q22{yields}q24.3)

    SciTech Connect

    North, K.; Wu, B.L.; Whiteman, D.

    1994-09-01

    The CHARGE association is an increasingly recognized complex of multiple malformations, that include Coloboma, Heart defect, choanal Atresia, Retardation of mental and somatic development, hypoplastic Genitalia, and Ear abnormalities or deafness. It has been postulated that many of the defects result from abnormalities in the development, migration or interaction of cells of the cephalic neural crest. The majority of cases are sporadic. We report a case of an inverted duplication (14)(q22{yields}q24.3) associated with CHARGE association. The patient was a 4 {1/2}-year-old female and was the product of a normal pregnancy. Family history was unremarkable. The clinical manifestations included the combination of congenital anomalies (coloboma, ventricular septal defect, severe developmental delay and growth retardation, genital hypoplasia and sensorineural deafness) in association with soft tissue choanal atresia, dysphagia, and minor dysmorphic features (low set ears, upslanting palpebral fissures). High resolution cytogenetic studies revealed that the child has 46,XX,inv dup(14)(q22{yields}q24.3) and parents have normal chromosomes. FISH with a chromosome 14 paint probe confirmed that the duplicated region is entirely derived from chromosome 14. FISH with D22S75 probe for region 22q11.2 detected no deletion for this locus. Several duplications or deletions involving different chromosomes have been reported for patients with conditions resembling CHARGE association. This indicates that CHARGE is possible genetically heterogenous, parallelling the phenotypic heterogeneity of the disorder. Two published cases with unbalanced rearrengements involving 14q22 have some comparable features with our case, which suggests that the locus for a gene causing some of the features of CHARGE association may reside at 14q22 or 14q24.3.

  12. CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.

    PubMed

    Kosho, Tomoki

    2016-02-01

    Carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase-1 (CHST14/D4ST1) deficiency represents a specific form of Ehlers-Danlos syndrome (EDS) caused by recessive loss-of-function mutations in CHST14. The disorder has been independently termed "adducted thumb-clubfoot syndrome", "EDS, Kosho type", and "EDS, musculocontractural type". To date, 31 affected patients from 21 families have been described. Clinically, CHST14/D4ST1 deficiency is characterized by multiple congenital malformations (craniofacial features including large fontanelle, hypertelorism, short and downslanting palpebral fissures, blue sclerae, short nose with hypoplastic columella, low-set and rotated ears, high palate, long philtrum, thin upper lip vermilion, small mouth, and micro-retrognathia; multiple congenital contractures including adduction-flexion contractures and talipes equinovarus as well as other visceral or ophthalmological malformations) and progressive multisystem fragility-related complications (skin hyperextensibility, bruisability, and fragility with atrophic scars; recurrent dislocations; progressive talipes or spinal deformities; pneumothorax or pneumohemothorax; large subcutaneous hematomas; and diverticular perforation). Etiologically, multisystem fragility is presumably caused by impaired assembly of collagen fibrils resulting from loss of dermatan sulfate (DS) in the decorin glycosaminoglycan side chain that promotes electrostatic binding between collagen fibrils. This is the first reported human disorder that specifically affects biosynthesis of DS. Its clinical characteristics indicate that CHST14/D4ST1 and, more fundamentally, DS, play a critical role in fetal development and maintenance of connective tissues in multiple organs. Considering that patients with CHST14/D4ST1 deficiency develop progressive multisystem fragility-related manifestations, establishment of a comprehensive and detailed natural history and health-care guidelines as well as further elucidation

  13. Differential regulation of duplicate light-dependent protochlorophyllide oxidoreductases in the diatom Phaeodactylum tricornutum

    SciTech Connect

    Hunsperger, Heather M.; Ford, Christopher J.; Miller, James S.; Cattolico, Rose Ann; Ianora, Adrianna

    2016-07-01

    Diatoms (Bacilliariophyceae) encode two light-dependent protochlorophyllide oxidoreductases (POR1 and POR2) that catalyze the penultimate step of chlorophyll biosynthesis in the light. Algae live in dynamic environments whose changing light levels induce photoacclimative metabolic shifts, including altered cellular chlorophyll levels. We hypothesized that the two POR proteins may be differentially adaptive under varying light conditions. Using the diatom Phaeodactylum tricornutum as a test system, differences in POR protein abundance and por gene expression were examined when this organism was grown on an alternating light:dark cycles at different irradiances; exposed to continuous light; and challenged by a significant decrease in light availability. As a result, for cultures maintained on a 12h light: 12h dark photoperiod at 200μEm–2 s–1 (200L/D), both por genes were up-regulated during the light and down-regulated in the dark, though por1 transcript abundance rose and fell earlier than that of por2. Little concordance occurred between por1 mRNA and POR1 protein abundance. In contrast, por2 mRNA and POR2 protein abundances followed similar diurnal patterns. When 200L/D P. tricornutum cultures were transferred to continuous light (200L/L), the diurnal regulatory pattern of por1 mRNA abundance but not of por2 was disrupted, and POR1 but not POR2 protein abundance dropped steeply. Under 1200μEm–2 s–1 (1200L/D), both por1 mRNA and POR1 protein abundance displayed diurnal oscillations. A compromised diel por2 mRNA response under 1200L/D did not impact the oscillation in POR2 abundance. When cells grown at 1200L/D were then shifted to 50μEm–2 s–1 (50L/D), por1 and por2 mRNA levels decreased swiftly but briefly upon light reduction. Thereafter, POR1 but not POR2 protein levels rose significantly in

  14. Differential regulation of duplicate light-dependent protochlorophyllide oxidoreductases in the diatom Phaeodactylum tricornutum

    DOE PAGES

    Hunsperger, Heather M.; Ford, Christopher J.; Miller, James S.; ...

    2016-07-01

    Diatoms (Bacilliariophyceae) encode two light-dependent protochlorophyllide oxidoreductases (POR1 and POR2) that catalyze the penultimate step of chlorophyll biosynthesis in the light. Algae live in dynamic environments whose changing light levels induce photoacclimative metabolic shifts, including altered cellular chlorophyll levels. We hypothesized that the two POR proteins may be differentially adaptive under varying light conditions. Using the diatom Phaeodactylum tricornutum as a test system, differences in POR protein abundance and por gene expression were examined when this organism was grown on an alternating light:dark cycles at different irradiances; exposed to continuous light; and challenged by a significant decrease in light availability.more » As a result, for cultures maintained on a 12h light: 12h dark photoperiod at 200μEm–2 s–1 (200L/D), both por genes were up-regulated during the light and down-regulated in the dark, though por1 transcript abundance rose and fell earlier than that of por2. Little concordance occurred between por1 mRNA and POR1 protein abundance. In contrast, por2 mRNA and POR2 protein abundances followed similar diurnal patterns. When 200L/D P. tricornutum cultures were transferred to continuous light (200L/L), the diurnal regulatory pattern of por1 mRNA abundance but not of por2 was disrupted, and POR1 but not POR2 protein abundance dropped steeply. Under 1200μEm–2 s–1 (1200L/D), both por1 mRNA and POR1 protein abundance displayed diurnal oscillations. A compromised diel por2 mRNA response under 1200L/D did not impact the oscillation in POR2 abundance. When cells grown at 1200L/D were then shifted to 50μEm–2 s–1 (50L/D), por1 and por2 mRNA levels decreased swiftly but briefly upon light reduction. Thereafter, POR1 but not POR2 protein levels rose significantly in response to this light stepdown.« less

  15. Modulation of Energy Transfer into Sequential Electron Transfer upon Axial Coordination of Tetrathiafulvalene in an Aluminum(III) Porphyrin-Free-Base Porphyrin Dyad.

    PubMed

    Poddutoori, Prashanth K; Bregles, Lucas P; Lim, Gary N; Boland, Patricia; Kerr, Russ G; D'Souza, Francis

    2015-09-08

    Axially assembled aluminum(III) porphyrin based dyads and triads have been constructed to investigate the factors that govern the energy and electron transfer processes in a perpendicular direction to the porphyrin plane. In the aluminum(III) porphyrin-free-base porphyrin (AlPor-Ph-H2Por) dyad, the AlPor occupies the basal plane, while the free-base porphyrin (H2Por) with electron withdrawing groups resides in the axial position through a benzoate spacer. The NMR, UV-visible absorption, and steady-state fluorescence studies confirm that the coordination of pyridine appended tetrathiafulvalene (TTF) derivative (TTF-py or TTF-Ph-py) to the dyad in noncoordinating solvents afford vertically arranged supramolecular self-assembled triads (TTF-py→AlPor-Ph-H2Por and TTF-Ph-py→AlPor-Ph-H2Por). Time-resolved studies revealed that the AlPor in dyad and triads undergoes photoinduced energy and/or electron transfer processes. Interestingly, the energy and electron donating/accepting nature of AlPor can be modulated by changing the solvent polarity or by stimulating a new competing process using a TTF molecule. In modest polar solvents (dichloromethane and o-dichlorobenzene), excitation of AlPor leads singlet-singlet energy transfer from the excited singlet state of AlPor ((1)AlPor*) to H2Por with a moderate rate constant (k(EnT)) of 1.78 × 10(8) s(-1). In contrast, excitation of AlPor in the triad results in ultrafast electron transfer from TTF to (1)AlPor* with a rate constant (k(ET)) of 8.33 × 10(9)-1.25 × 10(10) s(-1), which outcompetes the energy transfer from (1)AlPor* to H2Por and yields the primary radical pair TTF(+•)-AlPor(-•)-H2Por. A subsequent electron shift to H2Por generates a spatially well-separated TTF(+•)-AlPor-H2Por(-•) radical pair.

  16. Monóxido de carbono

    EPA Pesticide Factsheets

    La mayoria de los accidentes causados por envenenamiento por monoxido de carbono (CO) se producen en los hogares y estan relacionados a nuestras actividades diarias como cocinar y usar la calefaccion.

  17. Isolation of porphyran-degrading marine microorganisms from the surface of red alga, Porphyra yezoensis.

    PubMed

    Yoshimura, Takashi; Tsuge, Keisuke; Sumi, Toshihisa; Yoshiki, Masahiro; Tsuruta, Yumi; Abe, Shin-ichi; Nishino, Shiduo; Sanematsu, Seigo; Koganemaru, Kazuyoshi

    2006-04-01

    Marine microorganisms degrading porphyran (POR) were found on the surface of thalli of Porphyra yezoensis. Fifteen crude microorganism groups softened and liquefied the surface of agar-rich plate medium. Among these, 11 microorganism groups degraded porphyran that consisted of sulfated polysaccharide in Porphyra yezoensis. Following isolation, 7 POR-degradable microorganisms were isolated from the 11 POR-degradable microorganism groups.

  18. 78 FR 27954 - Frontseating Service Valves From the People's Republic of China: Preliminary Results of...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-05-13

    ... DunAn did not have reviewable transactions during the POR. In addition, we preliminarily determine... potential shipments made by DunAn during the POR; CBP did not provide any evidence that contradicts DunAn's... determine that DunAn did not have any reviewable transactions during the POR. In addition, the...

  19. Autonomous Vehicle Panel 2011 Pacific Operations Science and Technology Conference

    DTIC Science & Technology

    2011-03-16

    Transportable Robot System (MTRS) POR Multi- Mission Unmanned Ground Vehicle (MM- UGV) CDD Husky Mounted Detection System (HMDS) POR...Battlefield Extraction Assist Robot (BEAR) Initiative Squad Multi- purpose Equipment Transport (SMET) CDD Exoskeleton (XOS) CDD Autonomous Mobility...Appliqué System (AMAS) CDD M160 Light Flail POR 3 CPD To be released Ground Robotics Capability Sets (photos are notional representations

  20. Light-Dependent Protochlorophyllide Oxidoreductase: Phylogeny, Regulation, and Catalytic Properties.

    PubMed

    Gabruk, Michal; Mysliwa-Kurdziel, Beata

    2015-09-01

    This Current Topic focuses on light-dependent protochlorophyllide oxidoreductase (POR, EC 1.3.1.33). POR catalyzes the penultimate reaction of chlorophyll biosynthesis, i.e., the light-triggered reduction of protochlorophyllide to chlorophyllide. In this reaction, the chlorin ring of the chlorophyll molecule is formed, which is crucial for photosynthesis. POR is one of very few enzymes that are driven by light; however, it is unique in the need for its substrate to absorb photons to induce the conformational changes in the enzyme, which are required for its catalytic activation. Moreover, the enzyme is also involved in the negative feedback of the chlorophyll biosynthesis pathway and controls chlorophyll content via its light-dependent activity. Even though it has been almost 70 years since the first isolation of active POR complexes, our knowledge of them has markedly advanced in recent years. In this review, we summarize the current state of knowledge of POR, including the phylogenetic roots of POR, the mechanisms of the regulation of POR genes expression, the regulation of POR activity, the import of POR into plastids, the role of POR in PLB formation, and the molecular mechanism of protochlorophyllide reduction by POR. To the best of our knowledge, no previous review has compiled such a broad set of recent findings about POR.

  1. Altered heme catabolism by heme oxygenase-1 caused by mutations in human NADPH cytochrome P450 reductase

    SciTech Connect

    Pandey, Amit V.; Flueck, Christa E.; Mullis, Primus E.

    2010-09-24

    Research highlights: {yields} Mutations in POR identified from patients lead to reduced HO-1 activities. {yields} POR mutation Y181D affecting FMN binding results in total loss of HO-1 activity. {yields} POR mutations A287P, C569Y and V608F, lost 50-70% activity. {yields} Mutations in FAD binding domain, R457H, Y459H and V492E lost all HO-1 activity. {yields} POR polymorphisms P228L, R316W, G413S, A503V and G504R have normal activity. -- Abstract: Human heme oxygenase-1 (HO-1) carries out heme catabolism supported by electrons supplied from the NADPH through NADPH P450 reductase (POR, CPR). Previously we have shown that mutations in human POR cause a rare form of congenital adrenal hyperplasia. In this study, we have evaluated the effects of mutations in POR on HO-1 activity. We used purified preparations of wild type and mutant human POR and in vitro reconstitution with purified HO-1 to measure heme degradation in a coupled assay using biliverdin reductase. Here we show that mutations in POR found in patients may reduce HO-1 activity, potentially influencing heme catabolism in individuals carrying mutant POR alleles. POR mutants Y181D, A457H, Y459H, V492E and R616X had total loss of HO-1 activity, while POR mutations A287P, C569Y and V608F lost 50-70% activity. The POR variants P228L, R316W and G413S, A503V and G504R identified as polymorphs had close to WT activity. Loss of HO-1 activity may result in increased oxidative neurotoxicity, anemia, growth retardation and iron deposition. Further examination of patients affected with POR deficiency will be required to assess the metabolic effects of reduced HO-1 activity in affected individuals.

  2. RNAi based simultaneous silencing of all forms of light-dependent NADPH:protochlorophyllide oxidoreductase genes result in the accumulation of protochlorophyllide in tobacco (Nicotiana tabacum).

    PubMed

    Talaat, Neveen B

    2013-10-01

    Conversion of protochlorophyllide (Pchlide) into chlorophyllide (Chlide), a key step in chlorophyll biosynthesis, is mediated by a light-dependent NADPH:protochlorophyllide oxidoreductase (POR). POR exists in multiple isoforms that share high degree of homology. RNAi-mediated gene silencing approach was used to suppress the expression of POR genes in order to study its role in the Chls biosynthesis in tobacco (Nicotiana tabacum L.). The transgenic plants were devoid of chlorophyll pigments and resembled albino plants. Northern blot analysis confirmed the degradation of POR transcripts into 21-23 bp fragments. Pigment analysis showed the accumulation of various intermediate compounds of Chl biosynthesis pathway including Pchlide. However, no trace of chlorophyll was observed. As compared to wild type, POR-silenced plants accumulated larger (60%) amounts of Pchlide from its endogenous substrate. When leaf discs of WT and POR-silenced plants were treated with exogenous ALA both WT and POR-silenced plants accumulated large amounts of tetrapyrrolic intermediates demonstrating that Pchlide biosynthesis potential was not suppressed in POR-silenced plants. Upon illumination, WT plants photo-transformed large amounts of Pchlide to Chlide. However, POR-silenced plants almost completely failed to do so. Results demonstrate that the antisense approaches to drop expression of individual POR isoforms have provided valuable insights into the role of distinct PORs during greening. Moreover, data illustrate that the POR is the only enzyme that can convert the Pchlide to Chlide and there is no alternate enzyme that can substitute the POR in higher plants. Thus, this investigation describes ideal mechanism for the silencing of POR isozymes in tobacco.

  3. A two-component system regulates gene expression of the type IX secretion component proteins via an ECF sigma factor

    PubMed Central

    Kadowaki, Tomoko; Yukitake, Hideharu; Naito, Mariko; Sato, Keiko; Kikuchi, Yuichiro; Kondo, Yoshio; Shoji, Mikio; Nakayama, Koji

    2016-01-01

    The periodontopathogen Porphyromonas gingivalis secretes potent pathogenic proteases, gingipains, via the type IX secretion system (T9SS). This system comprises at least 11 components; however, the regulatory mechanism of their expression has not yet been elucidated. Here, we found that the PorY (PGN_2001)-PorX (PGN_1019)-SigP (PGN_0274) cascade is involved in the regulation of T9SS. Surface plasmon resonance (SPR) analysis revealed a direct interaction between a recombinant PorY (rPorY) and a recombinant PorX (rPorX). rPorY autophosphorylated and transferred a phosphoryl group to rPorX in the presence of Mn2+. These results demonstrate that PorX and PorY act as a response regulator and a histidine kinase, respectively, of a two component system (TCS), although they are separately encoded on the chromosome. T9SS component-encoding genes were down-regulated in a mutant deficient in a putative extracytoplasmic function (ECF) sigma factor, PGN_0274 (SigP), similar to the porX mutant. Electrophoretic gel shift assays showed that rSigP bound to the putative promoter regions of T9SS component-encoding genes. The SigP protein was lacking in the porX mutant. Co-immunoprecipitation and SPR analysis revealed the direct interaction between SigP and PorX. Together, these results indicate that the PorXY TCS regulates T9SS-mediated protein secretion via the SigP ECF sigma factor. PMID:26996145

  4. Infrared-based blink-detecting glasses for facial pacing: toward a bionic blink.

    PubMed

    Frigerio, Alice; Hadlock, Tessa A; Murray, Elizabeth H; Heaton, James T

    2014-01-01

    IMPORTANCE Facial paralysis remains one of the most challenging conditions to effectively manage, often causing life-altering deficits in both function and appearance. Facial rehabilitation via pacing and robotic technology has great yet unmet potential. A critical first step toward reanimating symmetrical facial movement in cases of unilateral paralysis is the detection of healthy movement to use as a trigger for stimulated movement. OBJECTIVE To test a blink detection system that can be attached to standard eyeglasses and used as part of a closed-loop facial pacing system. DESIGN, SETTING, AND PARTICIPANTS Standard safety glasses were equipped with an infrared (IR) emitter-detector unit, oriented horizontally across the palpebral fissure, creating a monitored IR beam that became interrupted when the eyelids closed, and were tested in 24 healthy volunteers from a tertiary care facial nerve center community. MAIN OUTCOMES AND MEASURES Video-quantified blinking was compared with both IR sensor signal magnitude and rate of change in healthy participants with their gaze in repose, while they shifted their gaze from central to far-peripheral positions, and during the production of particular facial expressions. RESULTS Blink detection based on signal magnitude achieved 100% sensitivity in forward gaze but generated false detections on downward gaze. Calculations of peak rate of signal change (first derivative) typically distinguished blinks from gaze-related eyelid movements. During forward gaze, 87% of detected blink events were true positives, 11% were false positives, and 2% were false negatives. Of the 11% false positives, 6% were associated with partial eyelid closures. During gaze changes, false blink detection occurred 6% of the time during lateral eye movements, 10% of the time during upward movements, 47% of the time during downward movements, and 6% of the time for movements from an upward or downward gaze back to the primary gaze. Facial expressions

  5. The significance of orbital anatomy and periocular wrinkling when performing laser skin resurfacing.

    PubMed

    Trelles, M A; Pardo, L; Benedetto, A V; García-Solana, L; Torrens, J

    2000-03-01

    Knowledge of orbital anatomy and the interaction of muscle contractions, gravitational forces and photoagingis fundamental in understanding the limitations of carbon dioxide (CO2) laser skin resurfacing when rejuvenating the skin of the periocular area. Laser resurfacing does not change the mimetic behavior of the facial muscles nor does it influence gravitational forces. When resurfacing periocular tissue, the creation of scleral show and ectropion are a potential consequence when there is an over zealous attempt at improving the sagging malar fat pad and eyelid laxity by performing an excess amount of laser passes at the lateral portion of the lower eyelid. This results in an inadvertent widening of the palpebral fissure due to the lateral pull of the Orbicularis oculi. Retrospectively, 85 patients were studied, who had undergone periorbital resurfacing with a CO2 laser using anew treatment approach. The Sharplan 40C CO2 Feather Touchlaser was programmed with a circular scanning pattern and used just for the shoulders of the wrinkles. A final laser pass was performed with the same program over the entire lower eyelid skin surface, excluding the outer lateral portion (e.g. a truncated triangle-like area),corresponding to the lateral canthus. Only a single laser pass was delivered to the lateral canthal triangle to avoid widening the lateral opening of the eyelid, which might lead to the potential complications of scleral show and ectropion. When the area of the crows' feet is to be treated, three passes on the skin of this entire lateral orbital surface are completed by moving laterally and upward toward the hairline. Patients examined on days 1, 7, 15, 30, 60, and one year after laser resurfacing showed good results. At two months after treatment, the clinical improvement was rated by the patient and physician as being "very good" in 81 of the 85 patients reviewed. These patients underwent laser resurfacing without complications. The proposed technique of

  6. Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay.

    PubMed

    Zahanova, Stacy; Meaney, Brandon; Łabieniec, Beata; Verdin, Hannah; De Baere, Elfride; Nowaczyk, Małgorzata J M

    2012-01-01

    Blepharophimosis-ptosis-epicanthus inversus syndrome(BPES; OMIM110100) is a genetic disorder usually inherited in an autosomal dominant manner. Primarily, its diagnosis is based on four major features present at birth: short horizontal palpebral fissures (blepharophimosis), drooping of the eyelids (ptosis), a vertical fold of skin from the lower eyelid up either side of the nose (epicanthus inversus), and lateral displacement of the inner canthi with normal interpupillary distance(telecanthus; Oley and Baraitser, 1988). Two types of BPES are recognized: type I BPES includes the four major eyelid features and female infertility as a result of premature ovarian failure, whereas type II BPES consists only of eyelid abnormalities (Zlotogora et al., 1983). BPES is sometimes associated with developmental delay, but patients with BPES typically have a normal lifespan (Oley and Baraitser, 1988; Beysen et al., 2009). The clinical diagnosis of BPES is confirmed with demonstration of a FOXL2 mutation, subtle FOXL2 deletion or 3q23 microdeletion, or deletion of the FOXL2 regulatory region (Crisponi et al., 2001; De Baere et al., 2003; Beysen et al., 2005; D’haene et al., 2009). FOXL2, located at 3q23, is the only gene currently known to be associated with BPES (Beysen et al., 2009). It is possible to identify an underlying genetic defect in 88% of BPES cases diagnosed clinically (Beysen et al., 2009). Of the genetic defects found, approximately 81% are intragenic mutations of FOXL2, 10–12% are microdeletions of the gene or surrounding areas, and 5% are deletions in the regulatory areas (Beysen et al., 2009; D’haene et al., 2009,2010). In BPES-like patients (i.e. those displaying some,but not all four major features of BPES), other copy number changes can be detected in 33% of cases(Gijsbers et al., 2008). Patients with BPES carrying larger deletions encompassing FOXL2 present more frequently with associated clinical findings, such as mental retardation (D’haene et al

  7. Jacobsen syndrome.

    PubMed

    Mattina, Teresa; Perrotta, Concetta Simona; Grossfeld, Paul

    2009-03-07

    Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from approximately 7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia) and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be very severe

  8. Alcohol-induced facial dysmorphology in C57BL/6 mouse models of fetal alcohol spectrum disorder.

    PubMed

    Anthony, Bruce; Vinci-Booher, Sophia; Wetherill, Leah; Ward, Richard; Goodlett, Charles; Zhou, Feng C

    2010-01-01

    Alcohol consumption during pregnancy causes fetal alcohol spectrum disorder (FASD), which includes a range of developmental deficits. Fetal alcohol syndrome is the most severe form of FASD and can be diagnosed with pathognomonic facial features such as a smooth philtrum, short palpebral fissure, and thin upper vermilion. However, many children with developmental damage because of prenatal alcohol exposure exhibit none, or only a subset, of the above features, making diagnosis difficult. This study explored novel analyses to quantify the effect of a known dose of alcohol on specific facial measurements in substrains C57BL/B6J (B6J) and C57BL/6NHsd (B6N) mice. Mouse dams were provided alcohol (Alc) consisting of 4.8% (vol/vol) alcohol in a liquid diet for 16 days prepregnancy and chow and water diet during mating, and then the alcohol liquid diet was reinstated on gestational days 7 (E7) to gestational day 17 (E17). Treatment controls included a pair-fed (PF) group given matched volumes of an alcohol-free liquid diet made isocalorically and a group given ad lib access to lab chow and water (Chow). Maternal diet intake (Alc and PF), blood alcohol concentrations (BACs), embryo weights, and 15 morphometric facial measurements for E17 embryos were analyzed. B6N dams drank more alcohol during pregnancy and generated higher BAC than B6J dams. Both the Alc and PF treatments induced significant reductions in embryo weights relative to Chow in both substrains. Alcohol treatments produced significant changes, relative to controls, in 4 of the 15 facial measures for the B6N substrain but only in two measures for the B6J substrain. Discriminant analysis demonstrated successful classification of the alcohol-exposed versus nonalcohol-exposed B6N embryos, with a high sensitivity of 86%, specificity 80%, and overall classification (total correct 83%), whereas B6J mice yielded sensitivity of 80%, specificity 78%, and overall correct classification in 79%. In addition, B6N mice showed

  9. The Basel longitudinal study on aging (1955-1978). Ophthalmo-gerontological research results.

    PubMed

    Brückner, R; Batschelet, E; Hugenschmidt, F

    1986-01-01

    In the prospective Basel longitudinal study on aging (1955-1978) 123 men (age at entry from 6-61 years) were investigated in 2 year (average) intervals. Complete case histories are available on 67 subjects over the entire period (19.6 +/- 0.85 years). Part I of the study was to confirm the hypothesis of Bernstein and of Steinhaus, according to which life expectancy can be estimated from the speed of development of presbyopia. Parallel to the measurement of accommodation range (after preliminary determination of refraction and visual acuity), the development of height, body weight, vital capacity, expiratory volume, chest circumference, abdominal circumference, blood pressure, ECG and pulse wave velocity were measured. Invasive investigations were not undertaken. Only when hypertension was combined with obesity was the diminution of accommodation range striking (Fig. 10c; however there were only 3 subjects in this risk group). Taking everything into consideration there was a concomitance between decrease of accommodation range and changes of medical parameters (Table 6). Intercurrent illness did not influence the accommodation range. Longitudinal measurements and cross-sectional comparisons (data averaged to the same point as of the same age) were carried out. The results did not always coincide. We could not confirm the hypothesis of Bernstein and of Steinhaus. In Part II the results of the objective measurements are given. Apparently growth of the skull does not stop entirely. The increase of interpupillary distance can be complete at 17 years of age, but also can continue to the 30th year. The palpebral fissure increases an average of 3 mm more horizontally between the 6th and the 20th year of life. The corneal diameter remains constant in all age classes, that is, the growth of the cornea should be complete before the 6th year of life. Early arcus senilis changes are found already in the 20-year-old. The increase in the course of time of arcus senilis is obvious

  10. Trisomy 1q41-qter and monosomy 3p26.3-pter in a family with a translocation (1;3): further delineation of the syndromes

    PubMed Central

    2014-01-01

    Background Trisomy 1q and monosomy 3p deriving from a t(1;3) is an infrequent event. The clinical characteristics of trisomy 1q41-qter have been described but there is not a delineation of the syndrome. The 3p25.3-pter monosomy syndrome (MIM 613792) characteristics include low birth weight, microcephaly, psychomotor and growth retardation and abnormal facies. Case presentation A 2 years 8 months Mexican mestizo male patient was evaluated due to a trisomy 1q and monosomy 3p derived from a familial t(1;3)(q41;q26.3). Four female carriers of the balanced translocation and one relative that may have been similarly affected as the proband were identified. The implicated chromosomal regions were defined by microarray analysis, the patient had a trisomy 1q41-qter of 30.3 Mb in extension comprising about 240 protein coding genes and a monosomy 3p26.3-pter of 1.7 Mb including only the genes CNTN6 (MIM 607220) and CHL1 (MIM 607416), which have been implicated in dendrite development. Their contribution to the phenotype, regarding the definition of trisomy 1q41-qter and monosomy 3p26.3-pter syndromes are discussed. Conclusion We propose that a trisomy 1q41-qter syndrome should be considered in particular when the following characteristics are present: postnatal growth delay, macrocephaly, wide fontanelle, triangular facies, frontal bossing, thick eye brows, down slanting palpebral fissures, hypertelorism, flat nasal bridge, hypoplasic nostrils, long filtrum, high palate, microretrognathia, ear abnormalities, neural abnormalities (in particular ventricular dilatation), psychomotor developmental delay and mental retardation. Our patient showed most of these clinical characteristics with exception of macrocephaly, possibly due to a compensatory effect by haploinsufficiency of the two genes lost from 3p. The identification of carriers has important implications for genetic counseling as the risk of a new born with either a der(3) or der(1) resulting from an adjacent-1

  11. Ophthalmic manifestations in IgG4-related disease

    PubMed Central

    Ebbo, Mikael; Patient, Matthieu; Grados, Aurelie; Groh, Matthieu; Desblaches, Julien; Hachulla, Eric; Saadoun, David; Audia, Sylvain; Rigolet, Aude; Terrier, Benjamin; Perlat, Antoinette; Guillaud, Constance; Renou, Frederic; Bernit, Emmanuelle; Costedoat-Chalumeau, Nathalie; Harlé, Jean-Robert; Schleinitz, Nicolas

    2017-01-01

    Abstract IgG4-related disease (IgG4-RD) is characterized by variable tissue or organ involvements sharing common pathological findings. Orbital or orbital adnexa involvement of the disease has been reported in a few case series. The aim of our study was to characterize and analyze ophthalmic manifestations from a nationwide French case-series. Patients with IgG4-RD and orbital or orbital adnexa involvement included in the French multicentric IgG4-RD case-registry were identified. Only patients fulfilling “modified” comprehensive diagnostic criteria with pathological documentation were retained for the study. Clinical, biological, pathological, radiological findings and data regarding the response to treatment were retrospectively analyzed. According to our data registry, the frequency of IgG4-related ophthalmic disease (IgG4-ROD) was 17%. Mean age at diagnosis was 55.1 ± 7.1 years with a male/female ratio of 2.2. The 19 cases of IgG4-ROD consisted of lacrimal gland (68.4%), soft tissue (57.9%), extra-ocular muscles (36.8%), palpebral (21.1%), optical nerve (10.5%), orbital bone (10.5%), and mononeuritis (V1 and/or V2, 10.5%) involvements. IgG4-ROD was bilateral in 57.9% of cases. Extra-ophthalmic manifestations were reported in 78.9% of cases. All patients responded to prednisone but two-thirds of patients relapsed within a mean (SD) of 9.8 (3.5) months and 72.2% required long-term glucocorticoids and/or immunosuppressive agents. Eight patients were treated by rituximab with a favorable response in 87.5% of cases. Lacrimal involvement is the most frequent ophthalmic manifestation of IgG4-RD and is frequently associated with extra-orbital manifestations. Despite initial favorable response to steroids, the long-term management of relapsing patients needs to be improved. PMID:28272212

  12. Ophthalmic manifestations in IgG4-related disease: Clinical presentation and response to treatment in a French case-series.

    PubMed

    Ebbo, Mikael; Patient, Matthieu; Grados, Aurelie; Groh, Matthieu; Desblaches, Julien; Hachulla, Eric; Saadoun, David; Audia, Sylvain; Rigolet, Aude; Terrier, Benjamin; Perlat, Antoinette; Guillaud, Constance; Renou, Frederic; Bernit, Emmanuelle; Costedoat-Chalumeau, Nathalie; Harlé, Jean-Robert; Schleinitz, Nicolas

    2017-03-01

    IgG4-related disease (IgG4-RD) is characterized by variable tissue or organ involvements sharing common pathological findings. Orbital or orbital adnexa involvement of the disease has been reported in a few case series. The aim of our study was to characterize and analyze ophthalmic manifestations from a nationwide French case-series.Patients with IgG4-RD and orbital or orbital adnexa involvement included in the French multicentric IgG4-RD case-registry were identified. Only patients fulfilling "modified" comprehensive diagnostic criteria with pathological documentation were retained for the study. Clinical, biological, pathological, radiological findings and data regarding the response to treatment were retrospectively analyzed.According to our data registry, the frequency of IgG4-related ophthalmic disease (IgG4-ROD) was 17%. Mean age at diagnosis was 55.1 ± 7.1 years with a male/female ratio of 2.2. The 19 cases of IgG4-ROD consisted of lacrimal gland (68.4%), soft tissue (57.9%), extra-ocular muscles (36.8%), palpebral (21.1%), optical nerve (10.5%), orbital bone (10.5%), and mononeuritis (V1 and/or V2, 10.5%) involvements. IgG4-ROD was bilateral in 57.9% of cases. Extra-ophthalmic manifestations were reported in 78.9% of cases. All patients responded to prednisone but two-thirds of patients relapsed within a mean (SD) of 9.8 (3.5) months and 72.2% required long-term glucocorticoids and/or immunosuppressive agents. Eight patients were treated by rituximab with a favorable response in 87.5% of cases.Lacrimal involvement is the most frequent ophthalmic manifestation of IgG4-RD and is frequently associated with extra-orbital manifestations. Despite initial favorable response to steroids, the long-term management of relapsing patients needs to be improved.

  13. P450 oxidoreductase deficiency - a new form of congenital adrenal hyperplasia.

    PubMed

    Flück, Christa E; Pandey, Amit V; Huang, Ningwu; Agrawal, Vishal; Miller, Walter L

    2008-01-01

    Patients with adrenal insufficiency, genital anomalies and bony malformations resembling the Antley- Bixler syndrome (a craniosynostosis syndrome), are likely to have P450 oxidoreductase (POR) deficiency. Since our first report in 2004, about 26 recessive POR mutations have been identified in 50 patients. POR is the obligate electron donor to all microsomal (type II) P450 enzymes, including the steroidogenic enzymes CYP17A1, CYP21A2 and CYP19A1. POR deficiency may cause disordered sexual development manifested as genital undervirilization in 46,XY newborns as well as overvirilization in those who are 46,XX. This may be explained by impaired aromatization of fetal androgens which may also lead to maternal virilization and low urinary estriol levels during pregnancy. A role for the alternate 'backdoor' pathway of androgen biosynthesis, leading to dihydrotestosterone production bypassing androstenedione and testosterone, has been suggested in POR deficiency but remains unclear. POR variants may play an important role in drug metabolism, as most drugs are metabolized by hepatic microsomal P450 enzymes. However, functional assays studying the effects of specific POR mutations on steroidogenesis showed that several POR variants impaired CYP17A1, CYP21A2 and CYP19A1 activities to different degrees, indicating that each POR variant must be studied separately for each potential target P450 enzyme. Thus, the impact of POR mutations on drug metabolism by hepatic P450s requires further investigation.

  14. Efficient anti-tumor effect of photodynamic treatment with polymeric nanoparticles composed of polyethylene glycol and polylactic acid block copolymer encapsulating hydrophobic porphyrin derivative.

    PubMed

    Ogawara, Ken-ichi; Shiraishi, Taro; Araki, Tomoya; Watanabe, Taka-ichi; Ono, Tsutomu; Higaki, Kazutaka

    2016-01-20

    To develop potent and safer formulation of photosensitizer for cancer photodynamic therapy (PDT), we tried to formulate hydrophobic porphyrin derivative, photoprotoporphyrin IX dimethyl ester (PppIX-DME), into polymeric nanoparticles composed of polyethylene glycol and polylactic acid block copolymer (PN-Por). The mean particle size of PN-Por prepared was around 80nm and the zeta potential was determined to be weakly negative. In vitro phototoxicity study for PN-Por clearly indicated the significant phototoxicity of PN-Por for three types of tumor cells tested (Colon-26 carcinoma (C26), B16BL6 melanoma and Lewis lung cancer cells) in the PppIX-DME concentration-dependent fashion. Furthermore, it was suggested that the release of PppIX-DME from PN-Por would gradually occur to provide the sustained release of PppIX-DME. In vivo pharmacokinetics of PN-Por after intravenous administration was evaluated in C26 tumor-bearing mice, and PN-Por exhibited low affinity to the liver and spleen and was therefore retained in the blood circulation for a long time, leading to the efficient tumor disposition of PN-Por. Furthermore, significant and highly effective anti-tumor effect was confirmed in C26 tumor-bearing mice with the local light irradiation onto C26 tumor tissues after PN-Por injection. These findings indicate the potency of PN-Por for the development of more efficient PDT-based cancer treatments.

  15. Perceptions of risks to children's health from indoor air pollution and an investigation of respiratory illness symptoms from indoor heating with a woodburning stove

    SciTech Connect

    Osborne, J.S. III

    1986-01-01

    This study explores perceptions of risks to health (POR), risk taking behavior (RTB), and associated illness from the perspectives of medical anthropology and epidemiology. Specific objectives included investigation of the following: (1) general POR: (2) POR from indoor air pollution (IAP) and parental usage of IAP sources; (3) the relationship between POR and RTB; factors affecting POR and RTB; (4) the construction of risk domains; (5) sources of intracultural variation in POR, RTB, and the partitioning of risk domains; (6) patterns of indoor heating in central Michigan; and (7) respiratory illness symptoms (RIS) in children from exposure to indoor heating with a woodburning stove (WBS). POR and RTB were investigated in random and ethnographic samples, RIS in a random sample with an internal comparison group, and indoor heating in a random sample. Interview schedules were developed for each phase of inquiry. The instrument used to investigate POR and RTB includes both qualitative and quantitative scales for POR assessment. Findings of this study provide an ethnography of risk, an inferential analysis of POR/RTB, and a preliminary assessment of risks of RIS from heating with WBS.

  16. Patterns of coral disease across the Hawaiian Archipelago: Relating disease to environment

    USGS Publications Warehouse

    Aeby, G.S.; Williams, G.J.; Franklin, E.C.; Kenyon, J.; Cox, E.F.; Coles, S.; Work, T.M.

    2011-01-01

    In Hawaii, coral reefs occur across a gradient of biological (host abundance), climatic (sea surface temperature anomalies) and anthropogenic conditions from the human-impacted reefs of the main Hawaiian Islands (MHI) to the pristine reefs of the northwestern Hawaiian Islands (NWHI). Coral disease surveys were conducted at 142 sites from across the Archipelago and disease patterns examined. Twelve diseases were recorded from three coral genera (Porites, Montipora, Acropora) with Porites having the highest prevalence. Porites growth anomalies (PorGAs) were significantly more prevalent within and indicative of reefs in the MHI and Porites trematodiasis (PorTrm) was significantly more prevalent within and indicative of reefs in the NWHI. Porites tissue loss syndrome (PorTLS) was also important in driving regional differences but that relationship was less clear. These results highlight the importance of understanding disease ecology when interpreting patterns of disease occurrence. PorTrm is caused by a parasitic flatworm that utilizes multiple hosts during its life cycle (fish, mollusk and coral). All three hosts must be present for the disease to occur and higher host abundance leads to higher disease prevalence. Thus, a high prevalence of PorTrm on Hawaiian reefs would be an indicator of a healthy coral reef ecosystem. In contrast, the high occurrence of PorGAs within the MHI suggests that PorGAs are related, directly or indirectly, to some environmental co-factor associated with increased human population sizes. Focusing on the three indicator diseases (PorGAs, PorTrm, PorTLS) we used statistical modeling to examine the underlying associations between disease prevalence and 14 different predictor variables (biotic and abiotic). All three diseases showed positive associations with host abundance and negative associations with thermal stress. The association with human population density differed among disease states with PorGAs showing a positive and PorTrm showing

  17. 77 FR 58512 - Corrosion-Resistant Carbon Steel Flat Products From the Republic of Korea: Preliminary Results of...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-09-21

    ... resulting benefit by POSCO's total free on board (f.o.b.) sales. See 19 CFR 351.525(b)(3). On this basis, we... attributable to the POR by Dongbu's total f.o.b. sales for the POR. On this basis, we determine a net... of exemptions by Dongbu's total f.o.b. sales for the POR. On this basis, we preliminarily...

  18. 75 FR 12206 - Certain Frozen Warmwater Shrimp From the Socialist Republic of Vietnam: Preliminary Results...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-03-15

    ... pink shrimp (Penaeus notialis), southern rough shrimp (Trachypenaeus curvirostris), southern white... available, contemporaneous with the POR and exclusive of taxes and duties.\\11\\ As a general matter,...

  19. ESHRE consensus on the definition of 'poor response' to ovarian stimulation for in vitro fertilization: the Bologna criteria.

    PubMed

    Ferraretti, A P; La Marca, A; Fauser, B C J M; Tarlatzis, B; Nargund, G; Gianaroli, L

    2011-07-01

    The definition presented here represents the first realistic attempt by the scientific community to standardize the definition of poor ovarian response (POR) in a simple and reproducible manner. POR to ovarian stimulation usually indicates a reduction in follicular response, resulting in a reduced number of retrieved oocytes. It has been recognized that, in order to define the poor response in IVF, at least two of the following three features must be present: (i) advanced maternal age or any other risk factor for POR; (ii) a previous POR; and (iii) an abnormal ovarian reserve test (ORT). Two episodes of POR after maximal stimulation are sufficient to define a patient as poor responder in the absence of advanced maternal age or abnormal ORT. By definition, the term POR refers to the ovarian response, and therefore, one stimulated cycle is considered essential for the diagnosis of POR. However, patients of advanced age with an abnormal ORT may be classified as poor responders since both advanced age and an abnormal ORT may indicate reduced ovarian reserve and act as a surrogate of ovarian stimulation cycle outcome. In this case, the patients should be more properly defined as 'expected poor responder'. If this definition of POR is uniformly adapted as the 'minimal' criteria needed to select patients for future clinical trials, more homogeneous populations will be tested for any new protocols. Finally, by reducing bias caused by spurious POR definitions, it will be possible to compare results and to draw reliable conclusions.

  20. Characterisation and immune responses to meningococcal recombinant porin complexes incorporated into liposomes.

    PubMed

    Sánchez, Sandra; Abel, Ana; Marzoa, Juan; Gorringe, Andrew; Criado, Teresa; Ferreirós, Carlos M

    2009-08-27

    We have analysed the structure of meningococcal outer membrane complexes and found that the main complexes are formed by different combinations of PorA and/or PorB molecules, associated to other proteins such as RmpM. In view of the growing knowledge of the importance of conformational epitopes in the immune responses to many pathogens, our aim in this study was to analyse the interactions of PorA and PorB by reconstitution of both recombinant porins into liposomes and determine the relevance of these interactions for the immune response. Recombinant PorA and PorB incorporated into liposomes associate forming complexes that are homomeric when only one of the porins is present, but heteromeric when both neisserial porins are present, mimicking those found previously in native outer membrane vesicles (OMVs). Association of PorA and PorB to form heterocomplexes modifies the immunogenicity of at least PorB, allowing the production of antibodies that recognise conformational epitopes, and produces new epitopes that react with a 50 kDa outer membrane protein not yet identified.