Sample records for abordagem palpebral subtarsal

  1. Palpebral redundancy from hypothyroidism.

    PubMed

    Wortsman, J; Wavak, P

    1980-01-01

    A patient is described with disabling palpebral edema. Primary hypothyroidism had been previously diagnosed and treated. Testing of thyroid function revealed persistence of the hypothyroidism. Treatment with L-thyroxine produced normalization of the biochemical parameters and resolution of palpebral edema. The search for hypothyrodism in patients with palpebral redundancy is emphasized.

  2. [Orbito-palpebral vascular pathology].

    PubMed

    Heran Dreyfus, F; Galatoire, O; Koskas, P; Lafitte, F; Nau, E; Bergès, O

    2016-11-01

    Orbito-palpebral vascular pathology represents 10% of all the diseases of this area. The lesion may be discovered during a brain CT scan or MRI, or because it causes clinical symptoms such as orbital mass, visual or oculomotor alteration, pain, proptosis, or acute bleeding due to a complication of the lesion (hemorrhage, thrombosis). We present these lesions using an anatomical, clinical, imaging and therapeutic approach. We distinguish four different entities. Vascular tumors have common imaging characteristics (hypersignal on T2 sequence, contrast enhancement, abnormal vascularization well depicted with ultrasound and Doppler, and possible bleeding). The main lesions are cavernous hemangiomas, the most frequent lesion of that type during adulthood; infantile hemangiomas, the most frequent vascular tumor in children; and more seldomly, hemangioperitcytomas. True vascular malformations are divided according to their flow. Low flow lesions are venous (orbital varix), capillarovenous or lymphatic (lymphangioma). High flow malformations, more rare, are either arteriovenous or arterial malformations (aneurisms). Complex malformations include both low and high flow elements. Lesions leading to modifications of the orbito-palpebral blood flow are mainly due to cavernous sinus abnormalities, either direct carotid-cavernous fistula affecting young adults after severe head trauma, or dural fistula, more insidious, found in older adults. The last section is devoted to congenital syndromic vascular malformations (Sturge-Weber, Rendu-Olser…). This classification allows for a better understanding of these pathologies and their specific imaging features. Copyright © 2016. Published by Elsevier Masson SAS.

  3. 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

  4. Developed lower-positioned transverse ligament restricts eyelid opening and folding and determines Japanese as being with or without visible superior palpebral crease.

    PubMed

    Ban, Midori; Matsuo, Kiyoshi; Ban, Ryokuya; Yuzuriha, Shunsuke; Kaneko, Ai

    2013-01-01

    We have reported that a developed lower-positioned transverse ligament between the superior-medial orbital rim and the lateral orbital rim on the lateral horn in the lower orbital fat space antagonizes eyelid opening and folding in certain Japanese to produce narrow eye, no visible superior palpebral crease, and full eyelid. In this study, we confirmed relationship between development of the lower-positioned transverse ligament and presence of the superior palpebral crease. We evaluated whether (1) digital immobilization of eyebrow movement during eyelid opening and (2) a developed lower-positioned transverse ligament could classify Japanese subjects as being with or without visible superior palpebral crease. Digital immobilization of eyebrow movement restricted eyelid opening in all subjects without visible superior palpebral crease but did not restrict in any subject with visible superior palpebral crease. Macroscopic and microscopic evidence revealed that the lower-positioned transverse ligament behind the lower orbital septum in subjects without visible superior palpebral crease was significantly more developed than that in subjects with visible superior palpebral crease. Since a developed lower-positioned transverse ligament antagonizes opening and folding of the anterior lamella of the upper eyelid in subjects without visible superior palpebral crease, these individuals open their eyelids by lifting the eyebrow with the anterior lamella and the lower-positioned transverse ligament owing to increased tonic contraction of the frontalis muscle, in addition to the retractile force of the levator aponeurotic expansions. In subjects with visible superior palpebral crease, the undeveloped lower-positioned transverse ligament does not antagonize opening and folding of the anterior lamella, and so they open their eyelids by folding the anterior lamella on the superior palpebral crease via the retractile force of the levator aponeurotic expansions.

  5. Developed Lower-Positioned Transverse Ligament Restricts Eyelid Opening and Folding and Determines Japanese as Being With or Without Visible Superior Palpebral Crease

    PubMed Central

    Ban, Midori; Matsuo, Kiyoshi; Ban, Ryokuya; Yuzuriha, Shunsuke; Kaneko, Ai

    2013-01-01

    Introduction: We have reported that a developed lower-positioned transverse ligament between the superior-medial orbital rim and the lateral orbital rim on the lateral horn in the lower orbital fat space antagonizes eyelid opening and folding in certain Japanese to produce narrow eye, no visible superior palpebral crease, and full eyelid. In this study, we confirmed relationship between development of the lower-positioned transverse ligament and presence of the superior palpebral crease. Methods: We evaluated whether (1) digital immobilization of eyebrow movement during eyelid opening and (2) a developed lower-positioned transverse ligament could classify Japanese subjects as being with or without visible superior palpebral crease. Results: Digital immobilization of eyebrow movement restricted eyelid opening in all subjects without visible superior palpebral crease but did not restrict in any subject with visible superior palpebral crease. Macroscopic and microscopic evidence revealed that the lower-positioned transverse ligament behind the lower orbital septum in subjects without visible superior palpebral crease was significantly more developed than that in subjects with visible superior palpebral crease. Conclusions: Since a developed lower-positioned transverse ligament antagonizes opening and folding of the anterior lamella of the upper eyelid in subjects without visible superior palpebral crease, these individuals open their eyelids by lifting the eyebrow with the anterior lamella and the lower-positioned transverse ligament owing to increased tonic contraction of the frontalis muscle, in addition to the retractile force of the levator aponeurotic expansions. In subjects with visible superior palpebral crease, the undeveloped lower-positioned transverse ligament does not antagonize opening and folding of the anterior lamella, and so they open their eyelids by folding the anterior lamella on the superior palpebral crease via the retractile force of the levator

  6. Femtosecond Laser in situ Keratomileusis Flap Creation in Narrow Palpebral Fissure Eyes without Suction.

    PubMed

    Chang, John S M; Law, Antony K P; Ng, Jack C M; Cheng, May S Y

    2017-01-01

    To evaluate a surgical technique used in eyes with narrow palpebral fissure undergoing femtosecond laser flap creation without suction during laser in situ keratomileusis (LASIK). All data of 2 patient groups were collected through chart review. Group 1 consisted of 6 eyes with narrow palpebral fissure in which the suction ring was manually fixated and femtosecond laser was applied accordingly. Thirty comparison cases were randomly drawn from among eyes that underwent a standard LASIK procedure matched for age and preoperative refraction (group 2). Only 1 eye of each patient was selected to compare the refractive and visual outcomes between groups. In all group 1 eyes, the flaps were created successfully with manual fixation of the suction ring without suction. No eyes lost 2 or more lines of vision. No significant difference was found in the safety and refractive outcomes between groups. Manual fixation of the suction ring in eyes with narrow palpebral fissure without suction was feasible for flap creation during LASIK.

  7. Femtosecond Laser in situ Keratomileusis Flap Creation in Narrow Palpebral Fissure Eyes without Suction

    PubMed Central

    Chang, John S.M.; Law, Antony K.P.; Ng, Jack C.M.; Cheng, May S.Y.

    2017-01-01

    Purpose To evaluate a surgical technique used in eyes with narrow palpebral fissure undergoing femtosecond laser flap creation without suction during laser in situ keratomileusis (LASIK). Methods All data of 2 patient groups were collected through chart review. Group 1 consisted of 6 eyes with narrow palpebral fissure in which the suction ring was manually fixated and femtosecond laser was applied accordingly. Thirty comparison cases were randomly drawn from among eyes that underwent a standard LASIK procedure matched for age and preoperative refraction (group 2). Only 1 eye of each patient was selected to compare the refractive and visual outcomes between groups. Results In all group 1 eyes, the flaps were created successfully with manual fixation of the suction ring without suction. No eyes lost 2 or more lines of vision. No significant difference was found in the safety and refractive outcomes between groups. Conclusion Manual fixation of the suction ring in eyes with narrow palpebral fissure without suction was feasible for flap creation during LASIK. PMID:28690535

  8. [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.

  9. Wide-field fundus imaging with trans-palpebral illumination.

    PubMed

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

    2017-01-28

    In conventional fundus imaging devices, transpupillary illumination is used for illuminating the inside of the eye. In this method, the illumination light is directed into the posterior segment of the eye through the cornea and passes the pupillary area. As a result of sharing the pupillary area for the illumination beam and observation path, pupil dilation is typically necessary for wide-angle fundus examination, and the field of view is inherently limited. An alternative approach is to deliver light from the sclera. It is possible to image a wider retinal area with transcleral-illumination. However, the requirement of physical contact between the illumination probe and the sclera is a drawback of this method. We report here trans-palpebral illumination as a new method to deliver the light through the upper eyelid (palpebra). For this study, we used a 1.5 mm diameter fiber with a warm white LED light source. To illuminate the inside of the eye, the fiber illuminator was placed at the location corresponding to the pars plana region. A custom designed optical system was attached to a digital camera for retinal imaging. The optical system contained a 90 diopter ophthalmic lens and a 25 diopter relay lens. The ophthalmic lens collected light coming from the posterior of the eye and formed an aerial image between the ophthalmic and relay lenses. The aerial image was captured by the camera through the relay lens. An adequate illumination level was obtained to capture wide angle fundus images within ocular safety limits, defined by the ISO 15004-2: 2007 standard. This novel trans-palpebral illumination approach enables wide-angle fundus photography without eyeball contact and pupil dilation.

  10. Palpebral portion of the orbicularis oculi muscle to repetitive nerve stimulation testing: A potential assessment indicator in patients with generalized myasthenia gravis.

    PubMed

    Yan, Chong; Song, Jie; Pang, Song; Yi, Fangfang; Xi, Jianying; Zhou, Lei; Ding, Ding; Wang, Weifeng; Qiao, Kai; Zhao, Chongbo

    2018-02-01

    Repetitive nerve stimulation (RNS) is a valuable diagnostic method for myasthenia gravis (MG). However, its association with clinical severity was scarcely studied. We reviewed medical records and retrospectively enrolled 121 generalized MG patients. Sensitivity of different muscles to RNS and clinical scoring systems was evaluated. RNS testing revealed facial muscles have the highest positive rate, followed by proximal muscles and distal muscles, with the palpebral portion of the orbicularis oculi muscle most sensitive. Amplitude decrement of compound muscle action potential (CMAP) in the palpebral portion of the orbicularis oculi muscle is related to quantitative myasthenia gravis (QMG) scores, MG-specific manual muscle testing (MMT) scores and myasthenia gravis-related activities of daily living (MG-ADL) scores. We suggest that RNS testing of the palpebral portion of the orbicularis oculi muscle is a potential assessment indicator in patients with generalized MG. Copyright © 2017 Elsevier Ltd. All rights reserved.

  11. Embolization of palpebral and orbito-frontal fistulas: technical and anatomical considerations in treating high-flow superficial skin lesions with liquid embolics.

    PubMed

    Samaniego, Edgar A; Fisher, Mark; Hasan, David; Guerrero, Waldo R; Fifi, Johanna T; Bottani, Laura; Ortega-Gutierrez, Santiago

    2018-03-01

    The treatment of palpebral and periorbital fistulas may be challenging due to the presence of multiple anastomosis with eloquent ophthalmic and intracranial vascular territories. Moreover, cosmetic and functional characteristics of this area pose unique challenges to open surgical approaches and endovascular therapy. We review the advantages and disadvantages of different liquid embolics in treating palpebral and periorbital fistulas as we describe three successfully treated cases. Moreover, we describe important anatomical landmarks that should be considered at the time of treatment of these lesions. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  12. Two-dimensional analysis of palpebral opening in blepharoptosis: visual iris-pupil complex percentage by digital photography.

    PubMed

    Choi, Yeop; Eo, SuRak

    2014-04-01

    The vertical dimension of the palpebral fissure and the marginal reflex distance are conventionally used to assess the amount or degree of blepharoptosis, and levator function is assessed by measuring total upper lid excursion between the extremes of down-gaze and up-gaze. However, these are 1-dimensional measures obtained with a ruler, and the results obtained are dependent on examiner skill. Digital photographs were obtained of 692 patients before and after upper blepharoplasty. Visual iris-pupil complex percentage (VIP) was measured in the 1,305 eyes by digital calculation using Adobe Photoshop CS3 (Adobe Systems, Inc). Perioperative eye images in primary gaze were evaluated independently by 2 surgeons, 2 nurses, and a graphic designer, and after excluding 50 eyes which were nonconcordant and 29 eyes which revealed retracted upper lids, the remaining 1,305 eyes were classified into 4 major groups, that is, into excellent (n = 415), good (n = 435), subclinical (n = 270), and prominent ptosis (n = 185) groups. In addition, eyes were subdivided into 5 types according to the iris-pupil complex position within the palpebral fissure. Visual iris-pupil complex percentages were from 85% to 94% in the excellent, from 78% to 84% in the good, from 70% to 77% in the subclinical ptosis, and below 70% in the prominent ptosis group. Patients in the subclinical or prominent ptosis eye group required surgery for blepharoptosis. Iris-pupil complex relation to the palpebral opening was classified into 5 eye types, namely, standard (n = 961), scleral (n = 266), sinking (n = 151), retracted (n = 3), and fish (n = 3). The authors devised a new prospective measurement method for assessing blepharoptosis in a clinical setting. Graphical comparisons between the devised method of measuring VIP and mathematical estimations showed that the devised method is easier, more practical, and more precise for measuring degree of blepharoptosis from general population trends, and that VIP also

  13. The anatomy of the palpebral branch of the infraorbital artery relating to midface lift.

    PubMed

    Hwang, Kun; Kim, Dong Hyun; Huan, Fan; Nam, Yong Seok; Han, Seung Ho

    2011-07-01

    The aim of this study was to elucidate a branch of the infraorbital artery (IOA) crossing the arcus marginalis into the orbit that might be vulnerable during a procedure of midface lift or fat sliding or a transposition in lower blepharoplasty.Eleven orbits of 6 Korean cadavers were dissected after injecting red latex into the external carotid artery. The IOA and nerve were identified. A branch of the IOA running upward was traced. In 28 cases of blow-out fracture, a branch of the IOA crossing the arcus marginalis into the orbit was identified, and the location was measured from each medial and lateral canthus.The palpebral branch of the IOA (PIOA) emerged from the infraorbital foramen and ran superior and lateral to the orbital septum. After passing through the orbital septum near the arcus marginalis, PIOA was distributed to the orbital fat. The palpebral branch of the IOA was identified in 21 (75.0%) of 28 fractured orbits. Twenty orbits had 1 PIOA, and 1 orbit had 2 PIOAs. The location of PIOA from the medial canthus (49.0%) was approximately half of the eye width in average. Most of the PIOAs (91%, 20 of 22 arteries found) were included in the range of 40% to 80% of the eye width from the medial canthus.Knowledge of the anatomic course of the PIOA crossing the arcus marginalis is conducive to cauterizing the vessels, as needed, in the subciliary or transconjunctival approach for lower blepharoplasty.

  14. 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.

  15. Combined endovascular and surgical approach for the treatment of palpebral arteriovenous malformations: experience of a single center.

    PubMed

    Clarençon, F; Blanc, R; Lin, C-J; Mounayer, C; Galatoire, O; Morax, S; Moret, J; Piotin, M

    2012-01-01

    Palpebral AVMs (pAVMs) are rare vascular lesions for which the treatment is challenging. Our aim was to present the technical aspects of the presurgical treatment by interventional neuroradiology of pAVMs and to report the clinical and angiographic results of combined (interventional neuroradiology/surgery) treatment of these malformations. Nine patients (5 females, 4 males) with a mean age of 22 years (range, 12-35 years) were treated in our department from December 1992 to April 2007 for superficial pAVMs. Seven patients presented with isolated pAVMs, while 2 had hemifacial AVMs. Ten TAE procedures, by using a liquid embolic agent (glue or Onyx) or microparticles, were performed in 7 patients. Six patients underwent absolute alcohol, glue, or sclerotic agent injection by direct puncture in 8 procedures. Clinical and angiographic follow-up were performed with a mean delay of, respectively, 6.3 and 5 years. Three patients had a single EVT. Iterative procedures were performed in 5 patients. In 1 patient, EVT was not performed because of the risk of occlusion of the central retinal artery. No complication occurred except 1 case of transient palpebral hematoma. No visual acuity loss related to an endovascular procedure was reported. Exclusion of the AVMs at the end of the procedure was >75% in all cases and total in 3/8 cases. All the patients except 2 underwent at least 1 surgical procedure after the embolization. Good clinical regression of the mass was obtained in all patients at long-term follow-up. Combined endovascular and surgical treatment of pAVMs is an effective and safe technique with good clinical results at long-term follow-up.

  16. Subcuticular Suture Technique: Alternative to Frost Suture to Prevent Ectropion After Transcutaneous Incision of Lower Eyelid.

    PubMed

    Kudva, Adarsh; Kamath, Abhay; Cariappa, K M; Gadicherla, Srikanth; Dhara, B Vasantha

    2017-12-01

    An ectropion is a complication that can arise from reconstruction in the infraorbital region. Often, this complication occurs despite proper positioning of the lower lid at the time of closure. Various transcutaneous approaches to orbit skeleton have investigated in view of complication arising from them. A subtarsal approach with a postoperative Frost suture gives an advantage to reduce the occurrence of ectropion especially after treatment of orbital floor fractures. This case describes a method of subcuticular suturing technique for subtarsal incision of lower lid which can be used to support the lid during healing period, thus decreasing the rate of ectropion. The technique described here is an alterative method for frost suturing with certain advantages.

  17. 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

  18. Ensino de gravitação clássica no nível médio: uma proposta de abordagem e resultados preliminares

    NASA Astrophysics Data System (ADS)

    Medeiros, G. C. M.; Jafelice, L. C.

    2003-08-01

    O ensino de gravitação clássica é comumente realizado de maneira formal e descontextualizado da experiência com a força-peso e da história do tema. Fustigados por anos de experiência de ensino no assunto, nem sempre com bons resultados, propomos uma abordagem ancorada nos eixos: a) contextualização histórica; e b) reconhecimento do peso como a força de atração gravitacional. O primeiro eixo integra o tema no desenvolvimento cultural do ser humano, praticando a interdisciplinaridade. O segundo eixo embasa construtivamente a abordagem, levando o aluno a realizar experiências e a vivenciar o reconhecimento de uma força universal. A abordagem foi construída através das etapas: 1) análise crítica do tema em livros didáticos; 2) elaboração de um curso para professores das várias disciplinas do ensino médio, identificando conexões para a prática da interdisciplinaridade; 3) elaboração de material didático; e 4) avaliação da eficácia da abordagem. No trabalho discutimos em detalhe as quatro etapas. Como resultados, adiantamos que: tabulamos a abordagem de gravitação nos livros didáticos, ainda muito tradicional e carecedora de atividades criativas que poderiam melhor explorar esse assunto; mapeamos, junto aos professores, padrões de conceitos espontâneos e erros associados ao tema; e, no curso, adaptamos e testamos a eficiência de materiais instrucionais existentes e criamos outros novos (e.g., para trabalhar excentricidades das órbitas planetárias), além disto elaboramos roteiros e figuras para tratamentos qualitativo e quantitativo da lei da gravitação universal. As avaliações feitas pelos professores foram muito animadoras. O espaço da presente reunião será aproveitado para socializar a proposta e os resultados obtidos e para submeter o projeto à análise crítica. (PPGECNM/UFRN; PRONEX/FINEP; NUPA/USP; Temáticos/FAPESP)

  19. Astronomia cultural e meio ambiente segundo uma abordagem holística

    NASA Astrophysics Data System (ADS)

    Jafelice, L. C.

    2003-08-01

    Neste trabalho ampliamos a discussão da abordagem holística para o ensino de astronomia que temos desenvolvido nos últimos anos, analisamos novos resultados e apresentamos exemplos práticos para interessados em experimentá-la. A constatação básica a orientar este enfoque é que cursos introdutórios em astronomia costumam ser excessiva e prematuramente técnicos, além de assumirem uma visão tradicional, muito estreita, do que seja educação científica, herdada da era cartesiana e positivista da ciência. Fundamentamos porque é importante que elementos de astronomia cultural ofereçam o mote e constituam o eixo norteador daqueles cursos e porque é urgente revermos a visão que temos da relação entre astronomia e meio ambiente. Um ponto central nesta abordagem é explorar formas de reativar e atualizar uma relação orgânica com o meio e excitar a consciência de nossa inevitável e profunda interdependência com ele em nível cósmico. Neste trabalho exemplificamos a possibilidade de concretização desta proposta em três diferentes situações: disciplinas de cursos de licenciatura em geografia e em física; escolas de nível fundamental; e, neste caso ainda a ser implementada, comunidades carentes. Estes casos envolvem públicos e espaços diferenciados para educação formal e não-formal. Dos casos já implementados, destacamos os resultados alcançados pelos alunos: enriquecimento cultural, aprendizagem significativa de conteúdos astronômicos tradicionais; mudanças de comportamento, incorporando contato diário com o céu; e freqüentes vivências de sentimentos empáticos que redirecionam a relação com a natureza e a consciência ecológica global. Além disto, para interessados em aplicar esta proposta, também socializamos procedimentos e cuidados para a implementação de ações alternativas consonantes com a mesma. (PPGECNM/UFRN; PRONEX/FINEP; NUPA/USP; Temáticos/FAPESP)

  20. 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

  1. [Palpebral cryptococcosis: case report].

    PubMed

    Souza, Murilo Barreto; Melo, Carlos Sergio Nascimento; Silva, Cristiana Silveira; Santo, Ruth Miyuki; Matayoshi, Suzana

    2006-01-01

    This paper is about a patient with acquired immunodeficiency syndrome empirically treated for miliary tuberculosis. During the clinical evolution the patient presented lesions compromising the right eyelid and tarsal conjunctiva. The initial diagnostic hypothesis was ocular tuberculosis with conjunctival and eyelid involvement. The biopsy of the conjunctival lesion identified an encapsulated yeast-like fungus: Criptococcus neoformans. After starting treatment with B anfotericin, the cutaneus lesions cleared.

  2. Design of a Subtarsal Ultrasonic Transducer for Mild Hyperthermia Treatment of Dry Eye Disease.

    PubMed

    Hynes, Michael B; Bujak, Matthew C; Chérin, Emmanuel; Sade, Shachar; Foster, F Stuart

    2016-01-01

    Dry eye disease is a disorder of the ocular surface that causes pain and low vision in a significant portion of the adult population. A common cause is obstructive Meibomian gland dysfunction, whereby the Meibomian glands secrete abnormal meibum with a melting point elevated by 3°C-4°C; hence, hyperthermia is the typical treatment. A design is proposed for an ultrasound hyperthermia device made of a transducer contained inside a contact lens with an internal air gap. The transducer heats the posterior of the tarsus, and the air gap provides an air backing to the transducer, preventing direct heating of the cornea. A prototype device was built, and hyperthermia experiments were performed on a porcine subject in vivo. A therapeutic temperature rise of 5°C-7°C was achievable in 10-15 min. The temperature of the cornea did not rise more than 2°C during any of the experiments. Crown Copyright © 2016. Published by Elsevier Inc. All rights reserved.

  3. 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.

  4. 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

  5. Human forniceal region is the stem cell-rich zone of the conjunctival epithelium.

    PubMed

    Harun, Mohd Hairul Nizam; Sepian, Siti Norzalehawati; Chua, Kien-Hui; Ropilah, Abd Rahman; Abd Ghafar, Norzana; Che-Hamzah, Jemaima; Bt Hj Idrus, Ruszymah; Annuar, Faridah Hanom

    2013-03-01

    The anterior surface of the eye is covered by several physically contiguous but histologically distinguishable epithelia overlying the cornea, limbus, bulbar conjunctiva, fornix conjunctiva, and palpebral conjunctiva. The self-renewing nature of the conjunctival epithelia makes their long-term survival ultimately dependent on small populations of stem cells. Hence, the objective of this study was to investigate the expression of the stem cell genes Sox2, OCT4, NANOG, Rex1, NES, and ABCG2 in cultured human conjunctival epithelium from different conjunctival zones, namely, the bulbar, palpebral and fornix zones. Three samples were taken from patients with primary pterygium and cataract (age range 56-66 years) who presented to our eye clinic at the UKM Medical Centre. The eye was examined with slit lamp to ensure there was no underlying ocular surface diseases and glaucoma. Conjunctival tissue was taken from patients who underwent a standard cataract or pterygium operation as a primary procedure. Tissues were digested, cultured, and propagated until an adequate number of cells was obtained. Total RNA was extracted and subjected to expression analysis of conjunctival epithelium genes (KRT4, KRT13, KRT19) and stem cell genes (Sox2, OCT4, NANOG, Rex1, NES, ABCG2) by reverse transcriptase-PCR and 2% agarose gel electrophoresis. The expression of Sox2, OCT4, and NANOG genes were detected in the fornical cells, while bulbar cells only expressed Sox2 and palpebral cells only expressed OCT4. Based on these results, the human forniceal region expresses a higher number of stem cell genes than the palpebral and bulbar conjunctiva.

  6. Evaluation of novel scoring system named 5-5-5 exacerbation grading scale for allergic conjunctivitis disease.

    PubMed

    Shoji, Jun; Inada, Noriko; Sawa, Mitsuru

    2009-12-01

    The objective of this study is to evaluate the practical usefulness of a scoring system using the 5-5-5 exacerbation grading scale for allergic conjunctivitis disease (ACD). Subjects were 103 patients with ACD including 40 patients with vernal keratoconjunctivitis (VKC), 20 patients with atopic keratoconjunctivitis (AKC), and 43 patients with allergic conjunctivitis (AC). The 5-5-5 exacerbation grading scale consists of the following 3 graded groups of clinical observations: the 100-point-grade group (100 points for each observation) includes active giant papillae, gelatinous infiltrates of the limbus, exfoliative epithelial keratopathy, shield ulcer and papillary proliferation at lower palpebral conjunctiva; the 10-point-grade group (10 points for each observation) includes blepharitis, papillary proliferation with velvety appearance, Horner-Trantas spots, edema of bulbal conjunctiva, and superficial punctate keratopathy; and the 1-point-grade group (1 point for each observation) includes papillae at upper palpebral conjunctiva, follicular lesion at lower palpebral conjunctiva, hyperemia of palpebral conjunctiva, hyperemia of bulbal conjunctiva, and lacrimal effusion. The total points in each grade group were determined as the severity score of the 5-5-5 exacerbation grading scale. The median severity scores of the 5-5-5 exacerbation grading scale in VKC, AKC and AC were 243 (range: 12-444), 32.5 (11-344), and 13 (2-33), respectively. The severity score of each ACD disease type was significantly different (P < 0.001, Kruskal-Wallis test). The severity of each type of ACD was classified as severe, moderate, or mild according to the severity score. The 5-5-5 exacerbation grading scale is a useful clinical tool for grading the severity of each type of ACD.

  7. [About Cryptophthalmos (2nd Czech Study)].

    PubMed

    Krásný, J; Čakrtová, M; Kletenský, J; Novák, V; Šach, J

    To get acquainted with the 2nd Czech study about cryptophthamos and with self-surgical methods. The boy with unilateral complete cryptophthalmos of left eye was treated from 2 to 20 years. The girls was treated from 4 month to 5 year yet for right abortive cryptophthalmos with microblepharon and left complete type still waiting for solutions.Surgical methods and results: Authors present a surgical procedures for correction of the upper and lower eyelids and ocular anomalies both patients studied. Successful reconstruction of palpebral fissure took place in several stages at the boy. The surgical procedure gradually contained: the insertion of gradually increased convex concave circular-shaped implant (silicone ruber) due a modeling of palpebral fissure, an enucleation of rudimentary eye, a reconstruction of bottom palpebral fissure by retro-auricular skin graf and a releasing of the lower transitory fold by the cul-de-sac method. An adequate depth of palpebral fissure to allow perfect position of an aesthetic protesis. Enucleated eye was atypically shaped, remiding partly sand-glass clock. The cornea was replaced by thick fibrous membrane, the iris and the lens were not revealed. Gliomatic retina was detached nearly totaly and the optic nerv was rudimental. The repairing the upper lid coloboma of girl by a lid rotation flap reconstruction using the inferior eyelid was performed at the age 17 month. Corneal dermoid simultaneously removed (histologically verified). Upper conjunctival fornix was formed using the spherical covering foil (silicone rubber) before and after the reconstruction of the lid. Plastic reconstructions required the need for patient access without trying immediate effect. An important role played silicone rubber implants (elastomer medical grade) which used temporarily. cryptophthalmos, microblepharon, relief surgery, silicon ruber implants.

  8. In vivo detection of clinically non-apparent ocular surface inflammation in patients with meibomian gland dysfunction-associated refractory dry eye symptoms: a pilot study

    PubMed Central

    Qazi, Y; Kheirkhah, A; Blackie, C; Cruzat, A; Trinidad, M; Williams, C; Korb, D R; Hamrah, P

    2015-01-01

    Purpose The utility of in vivo confocal microscopy (IVCM) in the investigation of palpebral conjunctival and corneal inflammation in patients with meibomian gland dysfunction (MGD)-associated refractory dry eye symptoms following gland expression, despite objective clinical improvement. Methods A retrospective, observational pilot study was conducted evaluating five patients with MGD-associated refractory dry eye symptoms and three control groups: symptomatic untreated MGD patients (n=3), treatment-responsive MGD patients with improved symptoms (n=3) and asymptomatic healthy normals (n=11). Ocular surface disease index (OSDI) scores, tear break-up time (TBUT), the number of meibomian glands yielding liquid secretion (MGYLS), palpebral conjunctival epithelial and substantia propria immune cell (EIC, SIC), and corneal dendritic cell (DC) densities were measured. Results Despite clinical improvement (TBUT: 6.4±1.2 s to 10.1±2.1 s, P=0.03; MGYLS: 3.5±0.8 glands to 7.0±1.1 glands, P=0.13) and a normal clinical examination post treatment, MGD patients remained symptomatic. IVCM revealed increased immune cells in the palpebral conjunctiva (refractory MGD EIC=592.6±110.1 cells/mm2; untreated MGD EIC=522.6±104.7 cells/mm2, P=0.69; responsive MGD EIC=194.9±119.4 cells/mm2, P<0.01; normals EIC=123.7±19.2 cells/mm2, P< 0.001), but not the cornea (refractory MGD DC=60.9±28.3 cells/mm2; normals DC=25.9±6.3 cells/mm2; P=0.43). EIC did not correlate with TBUT (Rs=−0.26, P=0.33). OSDI scores correlated with both EIC (Rs=0.76, P<0.001) and TBUT (Rs=−0.69, P<0.01) but not SIC. Intraglandular immune cells were also seen. Conclusion MGD-associated refractory symptoms and the symptom-sign disparity may be explained by clinically non-apparent, active inflammation of the palpebral conjunctiva as detected by IVCM. These patients may benefit from anti-inflammatory therapy. PMID:26088680

  9. Genetics Home Reference: DNMT3A overgrowth syndrome

    MedlinePlus

    ... eyes (narrowed palpebral fissures). Additionally, the upper front teeth are often larger than normal. Intellectual disability in DNMT3A overgrowth syndrome ranges from mild to severe. Individuals may have features of autism spectrum disorder , which are characterized by impaired communication ...

  10. [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.

  11. 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.

  12. High negative pressure subcutaneous suction drain for managing debilitating subcutaneous emphysema secondary to tube thoracostomy for an iatrogenic post computed tomography guided transthoracic needle biopsy pneumothorax: Case report and review of literature.

    PubMed

    Ahmed, Zeeshan; Patel, Pinakin; Singh, Suresh; Sharma, Raj Govind; Somani, Pankaj; Gouri, Abdul Rauf; Singh, Shiv

    2016-01-01

    Subcutaneous emphysema is a common complication of tube thoracostomy. Though self-limiting, it should be treated when it causes palpebral closure, dyspnea, dysphagia or undue disfigurement resulting in anxiety and distress to the patient. A 72year old man who was a known case of COPD on bronchodilators developed a large pneumothorax and respiratory distress after a CT guided transthoracic lung biopsy done for a lung opacity (approx. 3×3cm) at the right hilar region on Chest X-ray. Within 24h of an urgent tube thoracostomy, patient developed intractable subcutaneous emphysema with closure of palpebral fissure and dyspnea unresponsive to increasing suction on chest tube. A subcutaneous fenestrated drain was placed mid-way between the nipple and clavicle in the mid-clavicular line bilaterally. Continuous negative suction (-150mmHg) resulted in immediate, sustained relief and complete resolution within 5days. Extensive and debilitating SE (subcutaneous emphysema) has to be treated promptly to relieve patient discomfort, dysphagia or imminent respiratory compromise. A variety of treatment have been tried including infraclavicular blow-hole incisions, subcutaneous drains +/- negative pressure suction, fenestrated angiocatheters, Vacuum assisted dressings and increasing suction on a pre-existing chest tube. We describe a high negative pressure subcutaneous suction drain which provides immediate and sustained relief in debilitating SE. Debilitating subcutaneous emphysema which causes distress, anxiety, palpebral closure, dyspnoea or dysphagia requires intervention. High negative pressure subcutaneous suction drain provides immediate and sustained relief in extensive and debilitating SE. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.

  13. Comparison on conjunctival sac bacterial flora of the seniors with dry eye in Ganzi autonomous prefecture

    PubMed Central

    Zhang, Yue; Liu, Zhi-Rong; Chen, Hui; Fan, Ying-Chuan; Duo, Ji; Zheng, Hong; Wang, Guang-Jin; Li, Yu-Chan; Jiachu, Dan-Ba; Zewang, Ge-Ma

    2013-01-01

    AIM To compare the bacterial flora in palpebral conjunctiva of xerophthalmia seniors of Tibetan, Yi and Han, and analyze the differences and similarities of the bacteria. METHODS The test subjects were selected from 2 Tibetan, 2 Yi and 3 Han populated places, respectively. Total 222 seniors (444 eyes) with dry eye were examined. Secretion was collected from the palpebral conjunctiva of the subjects and then inoculated onto a blood agar plate. After 48h of incubation, the bacteria were examined for the differences and similarities between different ethnics. RESULTS There was no significant difference (P>0.05) of Gram stain characterization, dominant bacteria and number of the bacterial species present in oxrophthalmia patients among Tibetan, Yi and Han nationalities. The bacteria presented in all groups include staphylococcus epidermidis, corynebacterium, micrococcus luteu, intracellular bacteria sphingomonas, pseudomonas aeruginosa. The bacteria detected from the two of three ethnic groups were staphylococcus aureus, staphylococcus haemolyticus, escherichia coli, kytococcus sedentarius, streptococcus angina, micrococcus lylae, and staphylococcus heads. The incidence rate of bacteria-associated dry eye in Tibetan population was significantly lower than that of Han and Yi population. CONCLUSION There is no significant difference in the bacteria flora of palpebral conjunctiva observed among dry eye elder populations of Tibetan, Yi and Han people. All of staphylococcus epidermidis, corynebacterium, micrococcus luteu, intracellular bacteria sphingomonas, pseudomonas aeruginosa, staphylococcus aureus, staphylococcus haemolyticus, escherichia coli, kytococcus sedentarius, streptococcus angina, micrococcus lylae and staphylococcus heads are common bacteria flora of the three nationalities inhibiting in this area. PMID:23991377

  14. Multi-channel orbicularis oculi stimulation to restore eye-blink function in facial paralysis.

    PubMed

    Somia, N N; Zonnevijlle, E D; Stremel, R W; Maldonado, C; Gossman, M D; Barker, J H

    2001-01-01

    Facial paralysis due to facial nerve injury results in the loss of function of the muscles of the hemiface. The most serious complication in extreme cases is the loss of vision. In this study, we compared the effectiveness of single- and multiple-channel electrical stimulation to restore a complete and cosmetically acceptable eye blink. We established bilateral orbicularis oculi muscle (OOM) paralysis in eight dogs; the OOM of one side was directly stimulated using single-channel electrical stimulation and the opposite side was stimulated using multi-channel electrical stimulation. The changes in the palpebral fissure and complete palpebral closure were measured. The difference in current intensities between the multi-channel and single-channel simulation groups was significant, while only multi-channel stimulation produced complete eyelid closure. The latest electronic stimulation circuitry with high-quality implantable electrodes will make it possible to regulate precisely OOM contractions and thus generate complete and cosmetically acceptable eye-blink motion in patients with facial paralysis. Copyright 2001 Wiley-Liss, Inc.

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

    PubMed

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

    2016-01-01

    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. 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. 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. 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.

  16. [Idiopathic hypertrophic pachymeningitis: a case report].

    PubMed

    Vargas-Bellina, V; Saavedra-Pastor, H; Alvarado-Rosales, M; Porras-Carrión, M; Cjuno-Pinto, R; Gonzales-Quispe, I; Alban-Zapata, G

    Hypertrophic pachymeningitis is a clinical condition that is caused by a diffuse or localised thickening of the dura mater. It predominantly affects males and manifests as chronic headache, with or without association to neurological manifestations, such as paralysis of the cranial nerves, cerebellar ataxia and neuro-ophthalmic complications. A 61-year-old male, with no relevant past history, who, one month before admission, had begun to suffer from right frontotemporal headache that irradiated to the ipsilateral orbital region and was more pronounced at night. A week later he was affected by a decrease in visual acuity in the right eye and two weeks later he noted the presence of right palpebral ptosis, while the headaches increased. The examination showed: right palpebral ptosis with global ophthalmoparesis with predominance of adduction and abduction, and diminished photomotor reflex in the right eye. The visual acuity of the right eye was reduced and the palpebral fissure was 0 in the right eye. The fundus oculi was normal. Infectious and non-infectious causations of meningitis were precluded. Magnetic resonance imaging revealed a diffuse thickening of the supratentorial and infratentorial meninges, as well as diffuse uptake of the paramagnetic substance; thickening of the mucus in both paranasal maxillary sinuses was also observed. A meningeal biopsy study confirmed the existence of hypertrophic pachymeningitis. Treatment was established with prednisone and the clinical symptoms improved. Idiopathic hypertrophic pachymeningitis is an underdiagnosed condition that must be taken into consideration in cases of patients with a history of subacute or chronic meningitis in which infectious and non-infectious causations have been precluded, and high-dose steroid treatment must be established.

  17. Comparison of Periorbital Anthropometry Between Beauty Pageant Contestants and Ordinary Young Women with Korean Ethnicity: A Three-Dimensional Photogrammetric Analysis.

    PubMed

    Kim, Young Chul; Kwon, Jin Geun; Kim, Sung Chan; Huh, Chang Hun; Kim, Hee Jin; Oh, Tae Suk; Koh, Kyung S; Choi, Jong Woo; Jeong, Woo Shik

    2018-04-01

    The purpose of this study is to investigate the differences in the periorbital anthropometry between national Beauty Pageant Contestants and Ordinary Young Women with Korean ethnicity. Forty-three Beauty Pageant Contestants who were elected for the national beauty contest and forty-eight Ordinary Young Women underwent 3D photography. The authors analyzed 3D photogrammetric measures regarding periorbital soft tissue. The palpebral fissure width was significantly higher in the Beauty Pageant Contestants than the Ordinary Young Women (27.7 ± 1.2 vs. 26.3 ± 1.6 mm) (p < 0.001). The palpebral fissure height was also significantly higher in the Beauty Pageant Contestants (11.5. ± 1.0 vs. 9.1 ± 1.2 mm) (p < 0.001). The intercanthal width and upper eyelid height were smaller for the Beauty Pageant Contestants (intercanthal width, 34.3 ± 1.86 mm vs. 36.7 ± 3.1 mm; upper eyelid height, 11.5 ± 1.4 mm vs. 13.4 ± 2.3 mm) (p < 0.05). The nasal width and midfacial width were significantly smaller in the Beauty Pageant Contestants (nasal width, 38.0 ± 1.8 vs. 39.5 ± 2.2 mm; midfacial width 144.5 ± 3.9 vs. 146.9 ± 5.2 mm) (p < 0.05). The eyebrow showed significantly different features between the two groups in terms of vertical position in the upper face and the shape of the brow apex. The interpupillary distance, binocular distance, slant of palpebral fissure and width of pretarsal crease showed no significant difference between the two groups. Periorbital features in Beauty Pageant Contestants are wide-set eyes, larger palpebral fissure in width and height, relatively small upper eyelid height and intercanthal width, and relatively small nose and facial width compared to normal women. Our anthropometric results can be referable values for Asian eyelid surgery and help surgeons to establish individualized surgical planning. This journal requires that authors assign a level of evidence to each article. For a full description of

  18. DOE Office of Scientific and Technical Information (OSTI.GOV)

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

    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.

  19. 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

  20. Duane retraction syndrome type 1 with Usher syndrome type 2: an unreported association.

    PubMed

    Khurana, Bhawna Piplani; Khurana, Aruj Kumar; Grover, Sumit

    2015-05-07

    Duane retraction syndrome is characterized by globe retraction and palpebral fissure narrowing on adduction, with restriction of abduction, adduction, or both. Usher syndrome type 2 consists of congenital bilateral sensorineural hearing loss and retinitis pigmentosa. The authors present a case with a yet unreported association between Duane retraction syndrome type 1 and Usher syndrome type 2. Copyright 2015, SLACK Incorporated.

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

    PubMed

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

    2016-01-01

    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. The sample consisted of 161 volunteers, of both genders, aged between 26 and 84 years (63 ± 15 years). 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). 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.

  2. Anteriorization of the Normally Acting Inferior Oblique Muscles to Treat Dissociated Vertical Deviation Associated With Juvenile Glaucoma.

    PubMed

    Kassem, Rehab Rashad

    2017-10-09

    A case of dissociated vertical deviation, ptosis, and juvenile glaucoma is described. J deformity anteriorization of the normally acting inferior oblique muscles was chosen to preserve the superior fornix for glaucoma surgeries by avoiding superior rectus recession and to prevent narrowing of the palpebral fissure by avoiding an inferior rectus tuck. [J Pediatr Ophthalmol Strabismus. 2017;54:e63-e66.]. Copyright 2017, SLACK Incorporated.

  3. Biometric study of eyelid shape and dimensions of different races with references to beauty.

    PubMed

    Rhee, Seung Chul; Woo, Kyoung-Sik; Kwon, Bongsik

    2012-10-01

    There are few studies that evaluate the differences in the perception of beauty and attractiveness of different races or ethnicities. The purpose of this study was to determine whether there are any actual differences in the configuration of beautiful eyes among different races. Using seven composite faces of different races or ethnicities, photogrammetric measurements were performed to determine the relative differences in the average and attractive configuration of the eyes. Fourteen distance measurements and five angular measurements were performed for analyzing the morphological differences in the configuration of attractive and average faces. The results of our study found that attractive Korean faces have relatively wide-set eyes and that the medial and lateral eye fissure height is greater than that in average Korean faces. Attractive Korean faces have larger but not ptotic eyes than those in average Korean faces and they have a narrow double fold line; however, attractive Asian faces have a slightly higher double fold line. Attractive Korean or Asian faces do not have an epicanthus and there is a lot of exposure of white in the medial and lateral area of the eyes. Attractive Caucasian and African faces have an acute or keen shape to the eyes like the jaguar's eye. Attractive Asian faces have a less steep slant of the palpebral fissure compared to that of the average Asian face, but attractive Caucasian and African faces have a steeper palpebral slant than that of average Caucasian and African faces. Attractive Caucasian and African faces have a relatively narrower palpebral fissure height and width than average Caucasian and African faces. Regardless of race, attractive faces have wide-set eyes and a lower brow position than average faces. "Beautiful eyes" can be defined as youthful, brilliant, vivid, and attractive. We found that there are some common and some different characteristics in the configuration of beautiful eyes according to racial background

  4. Axial Globe Position Measurement: A Prospective Multicenter Study by the International Thyroid Eye Disease Society.

    PubMed

    Bingham, Chad M; Sivak-Callcott, Jennifer A; Gurka, Matthew J; Nguyen, John; Hogg, Jeffery P; Feldon, Steve E; Fay, Aaron; Seah, Lay-Leng; Strianese, Diego; Durairaj, Vikram D; Uddin, Jimmy; Devoto, Martin H; Harris, Matheson; Saunders, Justin; Osaki, Tammy H; Looi, Audrey; Teo, Livia; Davies, Brett W; Elefante, Andrea; Shen, Sunny; Realini, Tony; Fischer, William; Kazim, Michael

    2016-01-01

    Identify a reproducible measure of axial globe position (AGP) for multicenter studies on patients with thyroid eye disease (TED). This is a prospective, international, multicenter, observational study in which 3 types of AGP evaluation were examined: radiologic, clinical, and photographic. In this study, CT was the modality to which all other methods were compared. CT AGP was measured from an orthogonal line between the anterior lateral orbital rims to the cornea. All CT measurements were made at a single institution by 3 individual clinicians. Clinical evaluation was performed with exophthalmometry. Three clinicians from each clinical site assessed AGP with 3 different exophthalmometers and horizontal palpebral width using a ruler. Each physician made 3 separate measurements with each type of exophthalmometer not in succession. All photographic measurements were made at a single institution. AGP was measured from lateral photographs in which a standard marker was placed at the anterior lateral orbital rim. Horizontal and vertical palpebral fissure were measured from frontal photographs. Three trained readers measured 3 separate times not in succession. Exophthalmometry and photography method validity was assessed by agreement with CT (mean differences calculation, intraclass correlation coefficients [ICCs], Bland-Altman figures). Correlation between palpebral fissure and CT AGP was assessed with Pearson correlation. Intraclinician and interclinician reliability was evaluated using ICCs. Sixty-eight patients from 7 centers participated. CT mean AGP was 21.37 mm (15.96-28.90 mm) right and 21.22 mm (15.87-28.70 mm) left (ICC 0.996 and 0.995). Exophthalmometry AGP fell between 18 mm and 25 mm. Intraclinician agreement across exophthalmometers was ideal (ICC 0.948-0.983). Agreement between clinicians was greater than 0.85 for all upright exophthalmometry measurements. Photographic mean AGP was 20.47 mm (10.92-30.88 mm) right and 20.30 mm (8.61-28.72

  5. Case for diagnosis. Systemic light chain amyloidosis with cutaneous involvement*

    PubMed Central

    Gontijo, João Renato Vianna; Pinto, Jackson Machado; de Paula, Maysa Carla

    2017-01-01

    Systemic light chain amiloydosis is a rare disease. Due to its typical cutaneous lesions, dermatologists play an essential role in its diagnosis. Clinical manifestations vary according to the affected organ and are often unspecific. Definitive diagnosis is achieved through biopsy. We report a patient with palpebral amyloidosis, typical bilateral ecchymoses and cardiac involvement, without plasma cell dyscrasia or lymphomas. The patient died shortly after the diagnosis. PMID:29166521

  6. X-linked mental retardation syndrome: Three brothers with the Brooks-Wisniewski-Brown syndrome

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Morava, E.; Storcz, J.; Kosztolanyi, G.

    1996-07-12

    We report on 3 brothers with growth and mental retardation, bifrontal narrowness, short palpebral fissures, deeply set eyes with entropion, wide bulbous nose, small mouth, myopia, and spastic diplegia. The patients were born to normal and non-consanguineous parents. The similarity of our cases with those recently reported by Brooks et al. supports their suggestion that these patients are representative of a distinct entity. 8 refs., 3 figs., 1 tab.

  7. An Operational Evaluation of Extended-Wear Soft Contact Lenses in an Armored Division.

    DTIC Science & Technology

    1987-08-01

    has been demonstrated in the tarsal portion of the palpebral conjunctiva , usually of the upper . lid (Korb et al., 1983). Termed giant papillary...segment of the eye; any disease that affected the cornea, conjunctiva or sclera; corneal hypoesthesia; low tear breakup time or insufficient...evaluation of the following: lids, conjunctiva , limbus, cornea, anterior chamber, and tarsal plate. . 14 v\\Md rn, , !,F~l *O NO .. W,% Quantification of

  8. 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

  9. Clinical analysis and classification of dark eye circle.

    PubMed

    Huang, Yau-Li; Chang, Shyue-Luen; Ma, Lih; Lee, Mei-Ching; Hu, Sindy

    2014-02-01

    Dark eye circle (DEC) is a common problem that usually lacks detailed classification in the etiology and structural variations. A newly-developed DEC Assessment Score using Wood's lamp and ultrasonogram will provide a more precise evaluation of DEC for improving treatment results. Sixty-five cases, including eight males and 57 females with a mean age of 38.9 years, were enrolled. DEC were classified into pigmented (brown), vascular (blue to purple), structural, and mixed type by Wood's lamp and ultrasonogram. A scoring system with nine parameters, including brown hue, pigmented lesions, blue/pink/purple hue, periorbital puffiness, shadow hue, infraorbital palpebral bags, infraorbital grooves, blepharoptosis, and skin type, was used for clinical evaluation. Pigmented, vascular, structural, and mixed types of DEC represented 5%, 14%, 3%, and 78%, respectively. Thirty-three cases with periorbital puffiness were found to have higher "pre-septal thickness" than those of 20 controlled cases (P = 0.032). Fourteen patients with infraorbital palpebral bags were proved to have protruded retroseptal fat pads by ultrasonography. Pigmentation and vascular and structural components may play important roles in DEC. Detailed classification of DEC types will access physicians in the decision of appropriate therapeutic modalities. © 2013 The International Society of Dermatology.

  10. LCL: (Locked Cheek Lift) Three-Dimensional Cheek Lift and Inferior Palpebral Rejuvenation.

    PubMed

    Divaris, Marc; Sabri, Ebaa; Cancemi, Gianfranco; Daury, Richard

    2018-06-01

    Many recent advances in face lift techniques have been made to reverse the aging process of the mid-face. In this study, we present a new technique by which mid-face rejuvenation can be achieved in double-angle vectors and allows adaption to the underlying bony structure. The locked cheek lift (LCL) allows effective, simple and rapid lifting of the malar fat pad in two planes. Correction of the curvature of the face and reduction of the height of lid cheek junction distance can be achieved without an incision at the lower eyelid. In total, 115 patients (77 females and 38 males) have been operated on using the LCL technique by a single surgeon; patient ages ranged between 37 and 71 years old (average = 51). Follow-up was performed by the same team for a year postoperatively. The facial expression and lid cheek distance have been evaluated during this period. After a year from the operation, the lid cheek distance correction was maintained in 95.7% of the cases, with stable position of the ascended malar fat pad. Postoperative edema and ecchymosis were limited. LCL is an effective, simple and rapid surgical technique, which is capable of correcting the cheek gravitational migration, reducing the lid cheek distance (LCD), maintaining the ascended stable malar fat pad for a long time with a short recovery period and minimal risk of complications. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

  11. Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.

    PubMed

    Leonardi, M L; Pai, G S; Wilkes, B; Lebel, R R

    2001-08-15

    Ritscher-Schinzel syndrome, also known as the 3C syndrome, is a rare, autosomal recessive syndrome characterized by craniofacial, cerebellar, and cardiac anomalies. Cardiac manifestations include ventricular septal defect, atrial septal defect, tetralogy of Fallot, double outlet right ventricle, hypoplastic left heart, aortic stenosis, pulmonic stenosis and other valvular anomalies. Central nervous system anomalies include Dandy-Walker malformation, cerebellar vermis hypoplasia and enlargement of the cisterna magna. Craniofacial abnormalities seen are cleft palate, ocular coloboma, prominent occiput, low-set ears, hypertelorism, down-slanting palpebral fissures, depressed nasal bridge and micrognathia. Dandy-Walker malformation, posterior fossa cyst, hydrocephalus and congenital heart defect are common malformations that may occur in isolation or as a part of many syndromes. Accurate genetic diagnosis and counseling require detailed analysis of the external as well as the internal anatomy and knowledge of the relative frequencies of various malformations in syndromes that may have overlapping clinical signs. We have had the opportunity recently to study four cases of the Ritscher-Schinzel syndrome. A review of all reported cases is presented and an attempt made to define the minimum diagnostic criteria for the Ritscher-Schinzel syndrome. Of the nine craniofacial anomalies commonly reported as a part of the Ritscher-Schinzel syndrome, we consider two i.e., cleft palate and ocular coloboma, to be readily and objectively ascertainable. The other seven craniofacial traits, however, are somewhat subjective, require expert interpretation and are sometimes difficult to ascertain in a newborn or stillborn fetus. These are prominent forehead, prominent occiput, hypertelorism, down-slanting palpebral fissures, low-set ears, depressed nasal bridge and micrognathia. At least four of these were present in all cases that had a secure diagnosis of the Ritscher-Schinzel syndrome

  12. De novo interstitial tandem duplication of chromosome 4(q21-q28)

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Navarro, E.G.; Ramon, F.J.H.; Jimenez, R.D.

    1996-03-29

    We describe a girl with a previously unreported de novo duplication of chromosome 4q involving segment q21-q28. Clinical manifestations included growth and psychomotor retardation, facial asymmetry, hypotelorism, epicanthic folds, mongoloid slant of palpebral fissures, apparently low-set auricles, high nasal bridge, long philtrum, small mouth, short neck, low-set thumbs, and bilateral club foot. This phenotype is compared with that of previously reported cases of duplication 4q. 12 refs., 3 figs., 1 tab.

  13. Transcanalicular Diode Laser-assisted Dacryocystorhinostomy for the Treatment of Primary Acquired Nasolacrimal Duct Obstruction.

    PubMed

    Mor, Joel M; Guo, Yongwei; Koch, Konrad R; Heindl, Ludwig M

    2017-10-13

    Today's gold standard in the treatment of infrasaccal primary acquired nasolacrimal duct obstruction (PANDO) is external dacryocystorhinostomy (DCR), a relatively invasive procedure that can be performed after failure of recanalizing treatments. However, with progress in the field of diode laser technology, new approaches have emerged. Laser-assisted transcanalicular DCR with subsequent bicanalicular silicon intubation is a new option showing great promise as a viable minimally invasive procedure. Under permanent endoscopic visual control from the nasal cavity, a diode laser fiber is inserted into the lacrimal sac and laser energy is applied to create a bony ostium between the lacrimal sac and the nasal cavity. Since no skin incision needs to be made, advantages of this method comprise the sparing of the skin as well as the medial palpebral structures and the physiological palpebral-canalicular pump mechanism. The duration of surgery as well as reconvalescence is generally shorter than with external DCR. Complications include silicon tube prolapse, mild swelling and, rarely, canalicular infection and thermal injury. One-year functional success rates, defined as complete resolution of symptoms and ostium patency, are high, yet still range behind those of external DCR. However, secondary external DCR after failure of laser-assisted DCR can be performed without difficulty. Thus, laser-assisted transcanalicular DCR is a valid option that should be considered as a second-step procedure after failure of recanalization procedures and before external DCR.

  14. Ptosis assessment spectacles: a new method of measuring lid position and movement in children.

    PubMed

    Khandwala, Mona; Dey, Sarju; Harcourt, Cassie; Wood, Clive; Jones, Carole A

    2011-01-01

    Accurate assessment of eyelid position and movement is vital in planning the surgical correction of ptosis. Conventional measurements taken using a millimeter ruler are considered the gold standard, although in young children this can be a difficult procedure. The authors have designed ptosis assessment spectacles with a measuring millimeter scale marked on the center of the lens to facilitate accurate assessment of eyelid position and function in children. The purpose of the study was to assess the accuracy and reproducibility of eyelid measurement using these ptosis assessment spectacles. Fifty-two children aged 2-12 years were recruited in this study. Each child underwent 2 sets of measurements. The first was undertaken by an ophthalmologist in the conventional manner using a ruler, and the second set made with ptosis assessment spectacles. On each occasion the palpebral aperture, skin crease, and levator function were recorded in millimeters. A verbal analog scale was used to assess parent satisfaction with each method. Clinically acceptable reproducibility was shown with the ruler and the spectacles for all measurements: palpebral aperture, skin crease, and levator function. Parents significantly preferred the glasses for measurement, as compared with the ruler (p < 0.05). The spectacles are as accurate as conventional methods of measurement, but are easier to use. Children tolerate these spectacles well, and most parents preferred them to the ruler.

  15. Mosaic Trisomy 9p in a Patient with Mild Dysmorphic Features and Normal Intelligence.

    PubMed

    Brar, Randeep; Basel, Donald G; Bick, David P; Weik, LuAnn; vanTuinen, Peter; Peterson, Jess F

    2017-01-01

    To the Editor: Partial and whole duplications of the short arm of chromosome 9 have been commonly reported in the literature with characteristic phenotypic features and intellectual disabilities. The clinical features of 9p duplications are broad and can include growth retardation, developmental delay, intellectual disability, microbrachycephaly, deep set eyes, hypertelorism, downslanting palpebral fissures, prominent nasal root, bulbous nasal tip, low-set ears, short fingers and toes with hypoplastic nails, and delayed bone age (Bonaglia et al., 2002; Zou et al., 2009; Guilherme et al., 2014).

  16. Botulinum neurotoxin A injection for the treatment of epiphora with patent lacrymal ducts.

    PubMed

    Girard, B; Piaton, J-M; Keller, P; Nguyen, T H

    2018-04-01

    Retrospective longitudinal study to evaluate the efficacy of botulinum neurotoxin A (BoNT/A) therapy for epiphora with patent lacrimal ducts. BoNT/A has been used since 2000 in axillary hyperhidrosis to reduce sweat secretion. Some isolated cases of hyperlacrimation or crocodile tear syndrome have been treated with BoNT/A on this basis. We report our experience in the treatment of tearing despite patent lacrimal ducts by BoNT/A injection into the lacrimal gland. We reviewed qualitative and quantitative criteria to evaluate the degree of improvement of epiphora after BoNT/A injections in the palpebral lobe of the lacrimal gland in patients referred for epiphora despite patent lacrimal ducts between 2009 and 2016. Epiphora was graded using a functional questionnaire, Munk score and Schirmer test performed before and after the injections. Side effects were recorded. Sixty-five palpebral lacrimal glands of forty-two patients with epiphora despite patent lacrimal ducts, of mean age 65 years, sex ratio 0.8, were treated with BoNT/A (IncobotulinumtoxinA, XEOMIN ® , MERZ Pharma France) from April 2009 to April 2016. The etiology of the epiphora was represented by 56 paroxysmal lacrimal hypersecretion, 2 crocodile tear syndrome and 7 facial palsies. No conventional medical or surgical treatment had been effective in these cases. The technique of injection, dilution and dosage of BoNT/A were specific. We re-injected 33/65 cases a second time upon patient request due to recurrence of epiphora, 16/65 cases three times, 8/65 cases four times, 6/65 cases five times and 3/65 six times. The Schirmer's test measured a decrease of lacrimal secretion in 51/65 glands (78%) after the first botulinum neurotoxin injection. Side effects were limited to ptosis in 2 cases (3%) and six patients (9%) with rapidly regressing diplopia. Two patients experienced immediate lacrimal gland hematoma (3%) with no sequelae. The authors describe the injection techniques, the dosage, the volume and

  17. 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

  18. Liquid nitrogen cryotherapy for surface eye disease (an AOS thesis).

    PubMed

    Fraunfelder, Frederick Web

    2008-01-01

    To evaluate the effects of new treatments with liquid nitrogen cryotherapy on some external eye conditions. 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. 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. 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.

  19. [Bone cement implant as an alternative for orbital floor reconstruction: A case report].

    PubMed

    Vargas-Solalinde, Enrique; Huichapa-Padilla, Marisol E; Garza-Cantú, Daniel; Reyna-Martínez, Víctor H; Alatorre-Ricardo, Julio; González-Treviño, Juan Luis

    2017-12-01

    The management of orbitary fractures is one of the most challenging in facial trauma; the variety of reconstruction materials for its treatment is broad and is constantly improving, but despite this there is no consensus for its use or literature that sustains it. To present the use and design of a preformed bone implant as an alternative for the reconstruction of orbital floor fractures in the pediatric age group. A 7-year old male who suffered a right hemifacial contusion trauma with clinical and tomographic diagnosis of right pure blowout type orbital floor fracture with inferior rectus muscle entrapment and right post-traumatic palpebral ptosis. Successful surgical reconstruction was performed 7 days later with a pre-constructed bone cement implant. Eight weeks after surgery the patient presented with mild residual palpebral ptosis, no ocular movement limitations and no diplopia. The use of a bone cement implant can be considered appropriate for the reconstruction of these fractures, as another alternative to be used by the ophthalmologist among the variety of all the other materials used for this purpose. We consider that our optimism based on the results obtained in this case obligates us to increase the number of patients treated in order to gather more evidence and do larger follow up. Copyright © 2016 Academia Mexicana de Cirugía A.C. Publicado por Masson Doyma México S.A. All rights reserved.

  20. The Correlation between the Orbital Volume Ratio and Enophthalmos in Unoperated Blowout Fractures.

    PubMed

    Choi, Su Hyun; Kang, Dong Hee; Gu, Ja Hea

    2016-11-01

    Enophthalmos may not appear immediately after trauma due to periorbital swelling in a blowout fracture, and preoperative measurements of enophthalmos cannot be used as a reliable guideline. It is important to predict the eventual final extent of enophthalmos in order to determine whether to perform surgery, and there have been several attempts to predict the degree of late enophthalmos using preoperative orbital volume. The purpose of this study is to investigate the correlation between the orbital volume ratio (OVR) with final enophthalmos and the palpebral fissure, and to find the OVR that induced 2 mm of enophthalmos in unilateral unoperated blowout fractures. We retrospectively reviewed the medical records of 38 patients and divided them into 3 groups, determined by the fracture location. The relationships between the OVR and both the degree of enophthalmos and the palpebral fissure ratio (PFR) were assessed and, in particular, the OVR that induced 2 mm of enophthalmos was sought. Enophthalmos increased in proportion to the OVR, and there was a highly significant correlation between the increase in the OVR and the degree of enophthalmos (P<0.05). On the other hand, there was no correlation between OVR and PFR (P>0.05). The OVR that induced 2-mm enophthalmos was 112.18%. The final degree of enophthalmos can be estimated by the preoperative measurement of OVR. Preoperative measurements of OVR can be used as quantitative values to predict the final degree of enophthalmos in pure blowout fractures.

  1. Warty skin changes, chronic scrotal lymphoedema, and facial dysmorphism

    PubMed Central

    Felcht, Moritz; Dikow, Nicola; Goebeler, Matthias; Stroebel, Philipp; Booken, Nina; Voßmerbäumer, Urs; Merx, Kirsten; Henzler, Thomas; Marx, Alexander; Moog, Ute; Goerdt, Sergij; Klemke, Claus-Detlev

    2010-01-01

    We present the case of a 49-year-old Caucasian man whose main complaints were wart-like skin changes and scrotal lymphoedema. Furthermore, our patient showed signs of a common hereditary disease: lymphoedema, short stature, webbed neck, low frontal and posterior hairline, downslanting palpebral fissures, pale blue iris, broad nose, flat philtrum, and prominent nasolabial folds. His ears were low set and retroverted with a thick helix. However, no diagnosis was made for 49 years. The interdisciplinary dialogue of various specialists to make the final diagnosis is presented and discussed. PMID:22750922

  2. Contribution of tridimensional sonography and magnetic resonance imaging to prenatal diagnosis of Apert syndrome at mid-trimester.

    PubMed

    Boog, G; Le Vaillant, C; Winer, N; David, A; Quere, M P; Nomballais, M F

    1999-01-01

    A diagnosis of Apert syndrome, suspected at 24 weeks' gestation after conventional sonography showing turribrachycephaly and syndactyly of hands and feet, was confirmed at 26 weeks' gestation by tridimensional sonography and magnetic resonance imaging. This is only the second prenatal diagnosis reported at mid-trimester, excluding cases published from affected mothers or in connection with a context of recurrence. Additional findings have been collected from tridimensional sonography (mid-facial hypoplasia, downslanting palpebral fissures) and from magnetic resonance imaging (verticalization of the clivus and flattened angle of the cranial base).

  3. 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. Copyright © 2014 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  4. Metabolic acidosis in neonatal calf diarrhea-clinical findings and theoretical assessment of a simple treatment protocol.

    PubMed

    Trefz, F M; Lorch, A; Feist, M; Sauter-Louis, C; Lorenz, I

    2012-01-01

    Clinical assessment of metabolic acidosis in calves with neonatal diarrhea can be difficult because increased blood concentrations of d-lactate and not acidemia per se are responsible for most of the clinical signs exhibited by these animals. To describe the correlation between clinical and laboratory findings and d-lactate concentrations. Furthermore, the theoretical outcome of a simplified treatment protocol based on posture/ability to stand and degree of dehydration was evaluated. A total of 121 calves with diagnosis of neonatal diarrhea admitted to a veterinary teaching hospital during an 8-month study period. Prospective blinded cohort study. Physical examinations were carried out following a standardized protocol. Theoretical outcome of treatment was calculated. Type and degree of metabolic acidosis were age dependent. The clinical parameters posture, behavior, and palpebral reflex were closely correlated to base excess (r = 0.74, 0.78, 0.68; P < .001) and d-lactate concentrations (r = 0.59, 0.59, 0.71; P < .001), respectively. Thus, determining the degree of loss of the palpebral reflex was identified as the best clinical tool for diagnosing increase in serum d-lactate concentrations. Theoretical outcome of treatment revealed that the tested dosages of sodium bicarbonate are more likely to overdose than to underdose calves with diarrhea and metabolic acidosis. The degree of metabolic acidosis in diarrheic calves can be predicted based on clinical findings. The assessed protocol provides a useful tool to determine bicarbonate requirements, but a revision is necessary for calves with ability to stand and marked metabolic acidosis. Copyright © 2011 by the American College of Veterinary Internal Medicine.

  5. Topographic measurements of eyelids and orbit in enucleated eyes with hydroxyapatite integrated implant versus PMMA implant.

    PubMed

    Gradinaru, S; Totir, M; Iancu, R; Leasu, C; Pricopie, S; Yasin, S; Ciuluvica, R; Ungureanu, E

    2014-01-01

    This study reports our results relating to palpebral eyelid fissure and orbital measurements following evisceration with orbital implantation of hydroxyapatite integrated implant and PMMA implant. This study is a prospective study of 43 patients that underwent evisceration for different ocular affections at University Emergency Hospital Bucharest, Ophthalmology department between January 2009 and September 2010 (Group A comprising of twenty patients had the coralline hydroxyapatite implant -Integrated Ocular Implants, USA and Group B comprising of twenty-three received non-integrated PMMA ocular implants) .The outcomes measured were the degree of exo /enophthalmos, horizontal eyelid fissure and palpebral fissure height at 4 years after surgical intervention related to measurement to the contralateral eye. Horizontal eyelid fissure (HEF) was suffering a shortening of 7.4% in the group B versus the contralateral eye, and only 1.9% in the group A related to the contralateral eye. Eyelid fissure height was greater in the group B with 5.2% regarding the contralateral eye, and 1.2% in group A. The degree of enophthalmia was higher in the group B of 4 mm versus the contralateral eye and lower in group A 1.5 mm regarding the contralateral eye. . Although a hydroxyapatite implant may be not as economic as a PMMA implant, a patient must be warned about the effect on its ocular structures in time and that cosmetic appearance over years will change more dramatically than in the fellow normal eye. Therefore preoperative counseling of the patient is crucial in long term patient satisfaction.

  6. Treatment of congenital anophthalmos with self-inflating polymer expanders: a new method.

    PubMed

    Wiese, K G; Vogel, M; Guthoff, R; Gundlach, K K

    1999-04-01

    Congenital anophthalmos is a rare malformation in which the optic vesicle fails to develop. This leads to a small bony orbit, a constricted mucosal socket, short eyelids, reduced palpebral fissure and malar hypoplasia. The treatment includes both aesthetic and functional aspects. Therefore, a two-step procedure is described using a new self-inflating hydrogel expander. A lens-shaped expander with a diameter of 8 mm expands the lids and the mucosal socket to allow insertion of an eye prosthesis. As a second step, orbital expansion is performed with a spherical device. The expanders absorb lacrimal fluid from the mucosal socket or tissue fluid and start swelling when implanted in the orbital tissue. The insertion of an expander into the orbit as well as into the conjunctival pocket including its fixation by a single suture took only a few minutes and was an easy procedure. The expansion of the small conjunctival sockets was successfully completed in all cases within a period of 2-4 weeks. The weight (= volume in ml) of devices increased from 0.15-1.5 g (lens-shaped expander; weight in grams = volume in ml) respectively, 0.3-3.5 g (spherical device). The expanders inserted in orbital tissue increased from 0.4-4.4 g. This is equivalent to a 10 to 11 fold increase in their water-free volumes. Orbital expansion with spherical devices in combination with the inserted eye prosthesis enlarges the lid and palpebral fissures also. In contrast to conventional silicon balloon expanders, the procedure using self-inflating hydrogel expanders is simple and highly efficient.

  7. Randomized Crossover Trial of Silicone Hydrogel Presbyopic Contact Lenses.

    PubMed

    Sivardeen, Ahmed; Laughton, Deborah; Wolffsohn, James S

    2016-02-01

    To assess the performance of four commercially available silicone hydrogel multifocal monthly contact lens designs against monovision. A double-masked randomized crossover trial of Air Optix Aqua multifocal, PureVision 2 for Presbyopia, Acuvue OASYS for Presbyopia, Biofinity multifocal, and monovision with Biofinity contact lenses was conducted on 35 presbyopes (54.3 ± 6.2 years). After 4 weeks of wear, visual performance was quantified by high- and low-contrast visual acuity under photopic and mesopic conditions, reading speed, defocus curves, stereopsis, halometry, aberrometry, Near Activity Visual Questionnaire rating, and subjective quality of vision scoring. Bulbar, limbal, and palpebral hyperemia and corneal staining were graded to monitor the impact of each contact lens on ocular physiology. High-contrast photopic visual acuity (p = 0.102), reading speed (F = 1.082, p = 0.368), and aberrometry (F = 0.855, p = 0.493) were not significantly different between presbyopic lens options. Defocus curve profiles (p < 0.001), stereopsis (p < 0.001), halometry (F = 4.101, p = 0.004), Near Activity Visual Questionnaire (F = 3.730, p = 0.007), quality of vision (p = 0.002), bulbar hyperemia (p = 0.020), and palpebral hyperemia (p = 0.012) differed significantly between lens types, with the Biofinity multifocal lens design principal (center-distance lens was fitted to the dominant eye and a center-near lens to the nondominant eye) typically outperforming the other lenses. Although ocular aberration variation between individuals largely masks the differences in optics between current multifocal contact lens designs, certain design strategies can outperform monovision, even in early presbyopes.

  8. The Correlation between the Orbital Volume Ratio and Enophthalmos in Unoperated Blowout Fractures

    PubMed Central

    Choi, Su Hyun; Gu, Ja Hea

    2016-01-01

    Background Enophthalmos may not appear immediately after trauma due to periorbital swelling in a blowout fracture, and preoperative measurements of enophthalmos cannot be used as a reliable guideline. It is important to predict the eventual final extent of enophthalmos in order to determine whether to perform surgery, and there have been several attempts to predict the degree of late enophthalmos using preoperative orbital volume. The purpose of this study is to investigate the correlation between the orbital volume ratio (OVR) with final enophthalmos and the palpebral fissure, and to find the OVR that induced 2 mm of enophthalmos in unilateral unoperated blowout fractures. Methods We retrospectively reviewed the medical records of 38 patients and divided them into 3 groups, determined by the fracture location. The relationships between the OVR and both the degree of enophthalmos and the palpebral fissure ratio (PFR) were assessed and, in particular, the OVR that induced 2 mm of enophthalmos was sought. Results Enophthalmos increased in proportion to the OVR, and there was a highly significant correlation between the increase in the OVR and the degree of enophthalmos (P<0.05). On the other hand, there was no correlation between OVR and PFR (P>0.05). The OVR that induced 2-mm enophthalmos was 112.18%. Conclusions The final degree of enophthalmos can be estimated by the preoperative measurement of OVR. Preoperative measurements of OVR can be used as quantitative values to predict the final degree of enophthalmos in pure blowout fractures. PMID:27896181

  9. Treacher Collins syndrome with a de Novo 5-bp deletion in the TCOF1 gene.

    PubMed

    Su, Pen-Hua; Chen, Jia-Yu; Chen, Suh-Jen; Yu, Ju-Shan

    2006-06-01

    Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with features including malar hypoplasia, micrognathia, microtia, downward slanting palpebral fissures, lower eyelid coloboma, conductive hearing loss, and cleft palate. TCS is caused by mutations in the TCOF1 gene, which encodes the nuclear phosphoprotein treacle. Here, we describe a 1-day-old male infant with classical TCS presentation. A 5-bp deletion in exon 22 of the TCOF1 gene (3469del ACTCT) was found to cause a premature stop codon. This is the first report of TCOF1 gene mutation in the Taiwanese population.

  10. 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

  11. DOE Office of Scientific and Technical Information (OSTI.GOV)

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

    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.

  12. [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.

  13. Anthropometric and Anthroposcopic Analysis of Periorbital Features in Malaysian Population: An Inter-racial Study.

    PubMed

    Packiriswamy, Vasanthakumar; Kumar, Pramod; Bashour, Mounir

    2018-05-03

    In oculoplastic operations, knowledge of the dimensions of periorbital features based on age, gender, and race is essential for achieving better aesthetic result. This article seeks to determine the racial and gender differences of periorbital features among Malaysian Malay (MM), Malaysian Indian (MI), and Malaysian Chinese (MI) subjects. Evaluation of periorbital features was done on photographs of 200 MM, 200 MI, and 200 MC subjects, aged 18 to 26 years. The measured values were evaluated by an independent t -test. A significant difference was found between MM and MI in all measurements except interbrow distance in males, eyebrow thickness in females, and apex to lateral limbus distance in both sexes. Between MI and MC the difference was insignificant for interbrow distance in male groups, apex to lateral limbus distance in females, and palpebral fissure inclination and eyebrow apex angle in both sexes. Between MM and MC, significant differences were found for eyebrow thickness and medial canthus tilt in female group. Male groups showed significant difference for apex to lateral limbus and lateral canthus distance and eyebrow apex angle. Eyebrow height, palpebral fissure width, and intercanthal distance were significantly different in both sexes. Sexual dimorphism was found for all measurements in MI, but MM and MC showed insignificant difference for eyebrow apex angle. Four types of epicanthus were observed in MM and MC and three types in MI. Eyebrow apex between lateral limbus and lateral canthus was the most common position in all racial groups. Significant racial and gender differences exist for certain periorbital measurements. The knowledge of these differences is expected to influence the surgical outcome. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  14. Investigations on the conjunctival goblet cells and the characteristics of the glands associated with the eye in chinchillas (Chinchilla Laniger).

    PubMed

    Voigt, Susanne; Fuchs-Baumgartinger, Andrea; Egerbacher, Monika; Tichy, Alexander; Nell, Barbara

    2012-09-01

    To investigate the density and distribution of conjunctival goblet cells (GC) and study the anatomy and microscopic characteristics of glands associated with the eye in chinchillas (Chinchilla Laniger). 12 chinchillas were included in the study. Conjunctiva (divided into four regions), eyelids, and glands were embedded in paraffin wax, sectioned, stained, and analyzed. Highest GC densities were found in the palpebral region of the nasal and temporal conjunctiva of both eyelids (GC index: 25.1-18.2%), and lowest densities, in the bulbar and marginal region of the nasal and temporal conjunctiva of both eyelids (GC index: 1.5-0.0%). Meibomian glands extend along the entire length of both eyelids, and the whole glandular complex broadens toward the temporal canthus. This is macroscopically visible through the conjunctiva. The openings of the Meibomian glands are macroscopically not discernible. The light pink, smooth, and crescent-shaped lacrimal gland lies next to the aforementioned broadened part of the Meibomian glands in the temporal canthus. The whitish, 0.9-cm-long, smooth Harderian gland is firmly attached to the posterior part of the globe and extends nasally from the optic nerve to the equator. Furthermore, chinchillas possess two lacrimal puncta, situated on the inner conjunctival surface of both eyelids near the medial canthus. A pigmented lacrimal canaliculus originates from each punctum. The vestigial nictitating membrane is supported by a hyaline cartilage and is pigmented at its free margin. Chinchillas possess a Harderian gland, a lacrimal gland, and Meibomian glands. The GC density in the nasal and temporal palpebral conjunctiva is higher than in guinea pigs. © 2012 American College of Veterinary Ophthalmologists.

  15. Hypersomnia as presenting symptom of anti-Ma2-associated encephalitis: Case study

    PubMed Central

    Rojas-Marcos, Iñigo; Graus, Francesc; Sanz, Gema; Robledo, Arturo; Diaz-Espejo, Carlos

    2007-01-01

    We describe a patient who presented with excessive daytime sleepiness (EDS) and was eventually diagnosed with anti-Ma2 encephalitis. Neurological examination disclosed somnolence, left palpebral ptosis, and vertical gaze paresis. A brain MRI showed high signal intensity in the hypothalamus and each hippocampus. Ma2 antibodies were found in the patient’s serum, and fiberbronchoscopy disclosed a lung carcinoma. After three months of steroid treatment, the results of the patient’s neurological exam became normal. We conclude that anti-Ma2 encephalitis may present with mostly isolated EDS and that it may respond to steroids despite old age and the presence of an untreated lung cancer. PMID:17018696

  16. Hypersomnia as presenting symptom of anti-Ma2-associated encephalitis: case study.

    PubMed

    Rojas-Marcos, Iñigo; Graus, Francesc; Sanz, Gema; Robledo, Arturo; Diaz-Espejo, Carlos

    2007-01-01

    We describe a patient who presented with excessive daytime sleepiness (EDS) and was eventually diagnosed with anti-Ma2 encephalitis. Neurological examination disclosed somnolence, left palpebral ptosis, and vertical gaze paresis. A brain MRI showed high signal intensity in the hypothalamus and each hippocampus. Ma2 antibodies were found in the patient's serum, and fiberbronchoscopy disclosed a lung carcinoma. After three months of steroid treatment, the results of the patient's neurological exam became normal. We conclude that anti-Ma2 encephalitis may present with mostly isolated EDS and that it may respond to steroids despite old age and the presence of an untreated lung cancer.

  17. Rubinstein–Taybi syndrome with agenesis of corpus callosum

    PubMed Central

    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. PMID:26167229

  18. Isolated upper eyelid retraction: a sign of idiopathic inflammatory orbital disease.

    PubMed

    Shome, Debraj; Toshniwal, Svetlana; Jain, Vandana; Natarajan, Sundaram; Vemuganti, Geeta K

    2008-01-01

    A 41-year-old woman was examined for left upper eyelid retraction. Remaining ocular and systemic examination was unremarkable. Orbital CT demonstrated an ill-defined, extraconal, superior orbital soft-tissue mass involving the levator palpebrae superioris muscle. Incisional biopsy with histopathology demonstrated idiopathic orbital inflammation. The patient was started on a gradually tapering dose of oral steroids, for 6 weeks. On follow-up, the eyelid retraction had resolved. We report this case to demonstrate that idiopathic inflammatory orbital disease, localized to the superior orbit, may cause isolated upper eyelid retraction without associated proptosis. This condition resolves with medical therapy, leading to symmetrical palpebral apertures.

  19. [Duane vertical surgical treatment].

    PubMed

    Merino, M L; Gómez de Liaño, P; Merino, P; Franco, G

    2014-04-01

    We report 3 cases with a vertical incomitance in upgaze, narrowing of palpebral fissure, and pseudo-overaction of both inferior oblique muscles. Surgery consisted of an elevation of both lateral rectus muscles with an asymmetrical weakening. A satisfactory result was achieved in 2 cases, whereas a Lambda syndrome appeared in the other case. The surgical technique of upper-insertion with a recession of both lateral rectus muscles improved vertical incomitance in 2 of the 3 patients; however, a residual deviation remains in the majority of cases. Copyright © 2011 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.

  20. Familial partial trisomy 6q syndromes resulting from inherited ins (5;6) (q33;q15q27).

    PubMed

    Chen, H; Tyrkus, M; Cohen, F; Woolley, P V; Mayeda, K; Bhogaonker, A; Espirtu, C E; Simpson, W

    1976-06-01

    Two cases are reported of familial partial trisomy 6q syndrome due to segregation of ins(5;6) (q33;q15q27) in three generations. The common clinical features include growth and mental retardation, feeding difficulty during infancy, microcephaly with downward slanting palpebral fissures, flattened nasal bridge with anteverted and flared nares, long philtrum, high arched palate, partially opened and protruding mouth with receding chin, deep transverse creases of the ears, three creases on the 4th fingers, clinodactyly of the 5th fingers with a single crease, and other dermatoglyphic findings. These characteristic features of two patients appear to make partial trisomy 6q a clinically recognizable syndrome.

  1. [Efficacy observation on electroacupuncture in the treatment of oculomotor impairment caused by ophthalmic nerve injury].

    PubMed

    Ji, Xiao-Jie; Zhou, Ling-Yun; Si, Cheng-Qing; Guo, Qing; Feng, Guang-Zhong; Gang, Bao-Zhi

    2013-11-01

    To observe the difference in the clinical efficacy on oculomotor impairment between electroacupuncture and acupuncture and explore the best therapeutic method in the treatment of this disease. Sixty cases of oculomotor impairment were randomized into an electroacupuncture group and an acupuncture group, 30 cases in each one. In the electroacupuncture group, the points were selected on extraocular muscles, the internal needling technique in the eye was used in combination of electroacupuncture therapy. In the acupuncture group, the points and needling technique were same as the electroacupuncture group, but without electric stimulation applied. The treatment was given 5 times a week, 15 treatments made one session. After 3 sessions of treatment, the clinical efficacy, palpebral fissure size, pupil size, oculomotor range and the recovery in diplopia were compared before and after treatment in the two groups. In the electroacupuncture group, the palpebral fissure size was (9.79+/-2.65)mm and the eyeball shifting distance was (18.12+/-1. 30)mm, which were hig-her than (8.23+/-2.74)mm and (16.71+/-1. 44)mm respectively in the acupuncture group. In the electroacupuncture group, the pupil diameter was (0. 44 +/-0. 42)mm, which was less than (0. 72 +/- 0. 53)mm in the acupuncture group, indicating the significant difference (all P<0. 05). The cured rate was 63. 33% (19/30) and the total effective rate was 93.33% (28/30) in the electroacupuncture group, which was better than 36.67% (11/30) and 83. 333 (25/30) in the acupuncture group separately, indicating the significant difference (all P<0. 05). Electroacupuncture presents the obvious advantages in the treatment of oculomotor impairment, characterized as quick and high effect, short duration of treatment and remarkable improvements in clinical symptoms, there are important significance for the improvement of survival quality of patients.

  2. 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

  3. 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%). Copyright © 2012 Elsevier Ltd. All rights reserved.

  4. 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.

  5. 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.

  6. Studies of malformation syndromes in man XXXX: multiple congenital anomalies/mental retardation syndrome or variant familial developmental pattern; differential diagnosis and description of the McDonough syndrome (with XXY son from XY/XXY father).

    PubMed

    Neuhäuser, G; Opitz, J M

    1975-11-13

    The McDonough syndrome is a "new" MCA/MR syndrome which was found in 3 children (1 girl, 2 boys) of non-consanguineous parents. The affected children were mentally retarded (IQ 47--67) and had congenital heart defect, sternal deformity, kyphosis and craniofacila anomalies (anteverted auricles, upward slanted palpebral fissures, squint); cryptorchidism was present in the 2 boys. In addition a possible VFDP is postulated as the explanation for similar features in affected and unaffected siblings and parents. However, the McDonough syndrome may be an autosomal recessive trait with minor manifestations in heterozygotes. The klinefelter syndrome in one affected boy and a 46,XY/47,XXY chromosome constitution in the father was a coincidental finding.

  7. Two Cases of Partial Trisomy 4p and Partial Trisomy 14q

    PubMed Central

    Kim, Yeo-Hyang; Kim, Heung-Sik; Ryoo, Nam-Hee

    2013-01-01

    We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from a balanced translocation carrier mother. Array analyses indicated that their chromosomal breakpoints were similar, but there was no relationship between the 2 families. Both patients showed prominent growth retardation and psychomotor developmental delay. Other phenotypic manifestations were generally mild and variable; for example, patient 1 had a short palpebral fissure and low-set ears whereas patient 2 had a round face, asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems. PMID:23301226

  8. Probable Opitz trigonocephaly C syndrome with medulloblastoma

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Omran, H.; Hildebrandt, F.; Brandis, M.

    1997-04-14

    We report on a patient with trigonocephaly, biparietal widening as a result of metopic synostosis, strabismus, upslanted palpebral fissures, apparently low-set ears with abnormal helices, deeply furrowed palate, postaxial polysyndactyly of the feet, ankle flexion deformities, cryptorchidism, loose skin, and severe mental retardation, findings compatible with a diagnosis of the Opitz trigonocephaly C syndrome (OTS). At the age of 12 years this patient presented with symptoms of raised intracranial pressure. A biopsy showed findings diagnostic of a medulloblastoma WHO Grade IV, an unprecedented finding in OTS. The possibility of coincidence should not prevent continued surveillance of OTS patients in themore » future for the occurrence of malignancy. 33 refs., 4 figs., 1 tab.« less

  9. Frontoethmoidal osteoma with orbital extension. A case report.

    PubMed

    Blanco Domínguez, I; Oteiza Álvarez, A V; Martínez González, L M; Moreno García-Rubio, B; Franco Iglesias, G; Riba García, J

    2016-07-01

    A case is presented of a right frontoethmoidal osteoma with intraorbital invasion in a 43-year-old male, who was seen in the clinic with a proptosis, retro-orbital pain, peri-palpebral inflammation, and binocular diplopia due to muscular route limitation. Open surgery was performed using a subcranial approach, with removal of several fragments of osteoma. Histological analysis confirmed the diagnosis. Osteomas are benign bone-forming tumours with slow growth. They are usually asymptomatic until mass effect complications occur in the brain or in the orbit, or locally, generating mucoceles due to sinus drainage obstruction. Copyright © 2016 Sociedad Española de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.

  10. 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

  11. Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome.

    PubMed

    Dixon, Jill; Ellis, Ian; Bottani, Armand; Temple, Karen; Dixon, Michael James

    2004-06-15

    Treacher Collins syndrome (TCS) is an autosomal dominant disorder of facial development, which results from mutations in TCOF1. TCS comprises conductive hearing loss, hypoplasia of the mandible and maxilla, downward sloping palpebral fissures and cleft palate. Although, there is usually a reasonable degree of bilateral symmetry, a high degree of both inter- and intrafamilial variability is characteristic of TCS. The wide variation in the clinical presentation of different patients, together with the fact that more than 60% of cases arise de novo, can complicate the diagnosis of mild cases and genetic counselling. In the current study, we describe how molecular techniques have been used to facilitate pre- and postnatal disease diagnoses in 13 TCS families. Copyright 2004 Wiley-Liss, Inc.

  12. A new teaching model for demonstrating the movement of the extraocular muscles.

    PubMed

    Iwanaga, Joe; Refsland, Jason; Iovino, Lee; Holley, Gary; Laws, Tyler; Oskouian, Rod J; Tubbs, R Shane

    2017-09-01

    The extraocular muscles consist of the superior, inferior, lateral, and medial rectus muscles and the superior and inferior oblique muscles. This study aimed to create a new teaching model for demonstrating the function of the extraocular muscles. A coronal section of the head was prepared and sutures attached to the levator palpebral superioris muscle and six extraocular muscles. Tension was placed on each muscle from a posterior approach and movement of the eye documented from an anterior view. All movements were clearly seen less than that of the inferior rectus muscle. To our knowledge, this is the first cadaveric teaching model for demonstrating the movements of the extraocular muscles. Clin. Anat. 30:733-735, 2017. © 2017Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  13. [Polyalkylimide filler in human immunodeficiency virus-associated facial lipodystrophy: ophthalmic complications].

    PubMed

    García-Pacheco, S A; Blanco-Rivas, R; Campos-García, S

    2014-10-01

    A 54 year old male, who consulted for acute inflammatory palpebral edema. The patient has HIV infection (on antiretroviral treatment) and an associated facial lipodystrophy that was filled with polyalkylimide in both frontotemporal regions one year before. MRI revealed subcutaneous abscesses in the filled areas, which led to preseptal cellulitis. Complete remission was achieved with antibiotic therapy and monitoring. Polyalkylimide is a hydrogel that is recently used as facial filler without FDA approval. Although it was believed to be safe and useful for treating HIV lipodystrophy, it is not exempt from adverse effects (infection, abscesses, granulomas) that can compromise the eye area. Copyright © 2010 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.

  14. The TFOS International Workshop on Contact Lens Discomfort: Report of the Subcommittee on Neurobiology

    PubMed Central

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

    2013-01-01

    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. PMID:24058137

  15. Huge corneal dermoid in a well-formed eye: a case report and review of the literature.

    PubMed

    Mohammad, Abd-Elnasser A; Kroosh, Sana S

    2002-12-01

    A 25-day-old boy presented with a left corneal mass and left nasal obstruction. The mass involved the entire cornea with a skin-like surface and protruded outside the palpebral fissure. CT of the orbits disclosed a large cyst coating the entire left cornea, in an eye with a well-formed anterior chamber and a clearly evident lens. CT also revealed left nasal meningo-encephalocele. The eye with the mass was excised. The histopathologic report confirmed the diagnosis of corneal dermoid in an otherwise normally developed eye. This report of a huge dermoid involving the entire corneal diameter and extending into the sclera without ocular alteration posterior to Descemet's membrane is the first such report in the literature. The literature on corneal dermoids is also reviewed.

  16. Atopy and serum eosinophil cationic protein in 110 white children with vernal keratoconjunctivitis: differences between tarsal and limbal forms.

    PubMed

    Pucci, N; Novembre, E; Lombardi, E; Cianferoni, A; Bernardini, R; Massai, C; Caputo, R; Campa, L; Vierucci, A

    2003-03-01

    A predominance of Th2 response has been suggested in vernal keratoconjunctivitis (VKC), and a high prevalence of IgE-sensitized (IgE-S) patients has been reported (positive skin prick test or serum-specific-IgE). Palpebral and bulbar VKC are considered to be expressions of the same disease and only occasional racial and histopathological differences are described between the two forms. Tear levels of eosinophil cationic proteins have been correlated with the severity of ocular symptoms; however, there is no published study that demonstrates the presence of serum markers of disease activity. This study was performed to evaluate the prevalence of IgE-sensitization in palpebral, bulbar and mixed VKC and to determine possible useful markers of disease activity in peripheral circulation. A total of 110 white VKC patients (mean age 8.3 years, range 3.2-18 years) were evaluated for ocular score in the active phase of the disease. Skin prick tests and serum-specific IgE for common allergens, serum-total IgE, peripheral blood eosinophil counts (PBECs) and serum eosinophil cationic protein (s-ECP) were determined. Fifteen age-matched non-IgE-S control children underwent the same determinations. s-ECP, PBECs and s-total IgE were significantly higher in IgE-S than in non-IgE-S VKC patients and in non-IgE-S VKC patients than in controls. A lower prevalence of IgE-S patients was found in bulbar vs. tarsal (P = 0. 050) or mixed forms (P = 0.002). The score of giant papillae was strongly correlated with s-ECP levels (P < 0.001) and with PBECs (P = 0.001). Our data suggest that an overall eosinophilic response is present in VKC independently of IgE-sensitization; bulbar forms, unlike tarsal and mixed forms, were associated with a low prevalence of IgE-sensitization. Serum ECP was a useful marker of disease activity in tarsal and mixed forms.

  17. Pharmacodynamics of alfaxalone after single-dose intramuscular administration in red-eared sliders (Trachemys scripta elegans): a comparison of two different doses at two different ambient temperatures.

    PubMed

    Shepard, Molly K; Divers, Stephen; Braun, Christina; Hofmeister, Erik H

    2013-11-01

    This study compares the pharmacodynamics of two different doses of alfaxalone administered intramuscularly (IM) to red-eared sliders at two ambient temperatures. Prospective blinded crossover experimental study. Nine adult female sliders (Trachemys scripta elegans). Following a 2-week acclimation at 22-25 °C, nine sliders were randomly assigned to receive alfaxalone, 10 mg kg(-1) (W10), or 20 mg kg(-1) (W20) IM. Each turtle received each dose, with a minimum 7-day washout period. A blinded observer evaluated heart rate (HR), palpebral and corneal reflexes, muscle relaxation, handling, and response to toe pinch at the following points: pre-injection, and 5, 12, 20, 30, 45, 60, and 120 minutes post-injection. Turtles then acclimated to 18-20 °C for 63 days, and the experiment was repeated in this lower-temperature environment, with treatment groups C10 (alfaxalone 10 mg kg(-1)) and C20 (alfaxalone 20 mg kg(-1)) subjected to the same crossover design. C10 and C20 groups had significantly lower intraanesthetic HR than W10 or W20, respectively. C10 and W20 were significantly more relaxed and easier to handle than W10. No significant differences were observed in palpebral reflex, nor responsiveness to the toe pinch stimulus. None of the turtles lost corneal reflex. W20 and C20 had prolonged recoveries, compared to low-dose groups within the same temperature environment. Recovery was also longer at C20 and C10 compared to W10. Turtles given 10 mg kg(-1) were more relaxed and easier to handle in cold than warm conditions. Warm turtles were more relaxed and easier to handle when given 20 mg kg(-1) than those given 10 mg kg(-1). Cold conditions correlated with lower HR and longer recovery time for each dose category. The turtles had dose-dependent and inconsistent responses to alfaxalone. Lower ambient temperature augmented the behavioral effects of this drug. © 2013 Association of Veterinary Anaesthetists and the American College of Veterinary Anesthesia and Analgesia.

  18. Guaifenesin alone or in combination with ketamine or sodium pentobarbital as an anesthetic in rabbits.

    PubMed Central

    Olson, M E; McCabe, K; Walker, R L

    1987-01-01

    Guaifenesin was administered alone and in combination with ketamine or sodium pentobarbital to adult New Zealand white rabbits. A solution of 5% guaifenesin in 5% dextrose given intravenously at a dosage of 200 mg/kg, abolished the pedal, palpebral and corneal reflexes for up to 15 minutes with little influence on cardiopulmonary function. Guaifenesin (200 mg/kg, intravenously) and ketamine (50 mg/kg, intramuscularly) produced effective and safe surgical anesthesia for over 30 minutes. This combination mildly depressed respiratory rate but heart rate and arterial blood pressure were not significantly affected. Guaifenesin (200 mg/kg, intravenously) was combined with sodium pentobarbital (20 mg/kg, intravenously) to produce surgical anesthesia for a period of more than 30 minutes. This combination depressed respiratory rate, produced a tachycardia and decreased arterial blood pressure. PMID:3651894

  19. Does infantile abduction deficit indicate duane retraction syndrome until disproven?

    PubMed

    Kim, Jae Hyoung; Hwang, Jeong-Min

    2014-11-01

    Duane retraction syndrome consists of abduction deficit and palpebral fissure narrowing, upshoots, or downshoots on adduction. Infants with abduction deficit should be considered to have Duane retraction syndrome until disproven, because congenital abducens nerve palsy is extremely rare. The abducens nerve on the affected side is absent in type 1 Duane retraction syndrome and in some type 3 patients. The authors present a 7-month-old girl who showed limitation of abduction simulating Duane retraction syndrome. High-resolution magnetic resonance imaging (MRI) revealed atrophic lateral rectus and present abducens nerve. This report is important because this case showed that congenital abducens nerve palsy exists, although it is extremely rare, and high-resolution MRI could be pivotal for the differentiation of Duane retraction syndrome and congenital abducens nerve palsy in infancy. © The Author(s) 2014.

  20. Two familial cases with trisomy 15q dist due to a rcp(5;15)(p14;q21).

    PubMed

    Tzancheva, M; Krachounova, M; Damjanova, Z

    1981-01-01

    A trisomy of the distal long arm of chromosome 15(q21 leads to qter) resulting in similar phenotypic and developmental abnormalities in two related children (a boy and a girl) is described. The chromosome defect was due to malsegregation of a balanced translocation (5;15)(p14;q21) in one of the parents. It was inherited in four generations and accompanied by recurrent miscarriages. Comparison of these patients with four previously published cases of trisomy 15q dist reveals a pattern of common features including: microdolichocephaly with characteristic strikingly protuberant occiput and predominance of the visceral over the cerebral cranium; peculiar facial dysmorphism--narrow antimongoloid palpebral fissures; large, malformed, low-set ears; micrognathy; long philtrum; short neck; cardiopathy; profound encephalopathy with lack of suck and swallow reflexes; and no growth retardation.

  1. Intellectual disability, unusual facial morphology and hand anomalies in sibs.

    PubMed

    Sousa, Sérgio B; Venâncio, Margarida; Chanudet, Estelle; Palmer, Rodger; Ramos, Lina; Beales, Philip L; Moore, Gudrun E; Saraiva, Jorge M; Hennekam, Raoul C

    2013-10-01

    Here we report on a Portuguese family with three sisters who shared moderate intellectual disability, unusual facial morphology (short palpebral fissures; broad nasal tip; thin upper and lower vermillion; broad and pointed chin) and hand anomalies in two of them (short left third and fifth right metacarpals in one case; marked syndactyly between the third and fourth fingers in another). One of the sisters had microcephaly and short stature, and the other two were obese. Obesity and somewhat similar facial features were also present in the otherwise healthy mother. Despite the overlap with several known syndromes (Albright osteodystrophy; Filippi syndrome; Rubinstein-Taybi syndrome; microdeletion 2q37), we suggest this condition is previously unreported, and most likely displays an autosomal recessive pattern of inheritance. © 2013 Wiley Periodicals, Inc. Copyright © 2013 Wiley Periodicals, Inc.

  2. Syncope as initial symptom for nephrotic syndrome: a case report

    PubMed Central

    Wu, Xuemei; Wang, Guangliang; Feng, Jiachun

    2015-01-01

    Although syncope and nephrotic syndrome are frequently encountered independently in pediatric practice, syncope as the initial symptom for nephrotic syndrome is rarely observed in the pediatric age group. In this report, we present the case of 3-year-old boy with nephrotic syndrome who presented with a history of three episodes of syncope before admission. The syncope occurred after excessive fluid loss or inadequate intake of fluids and was relieved spontaneously. History taking revealed that the early morning palpebral edema, and laboratory tests showed decreased plasma protein levels and elevated serum lipid levels. Nephrotic syndrome was diagnosed, but could not be confirmed histopathologically because the patient’s parent refused consent for biopsy. The patient was managed with fluid expansion, correction of acidosis, and improvement of microcirculation to prevent recurrence of syncope, and glucocorticoids were administered to prevent disease progression. PMID:26629237

  3. [The research progress of Treacher Collins syndrome].

    PubMed

    Wang, Pu; Fan, Xinmiao; Fan, Yue

    2016-02-01

    Treacher Collins syndrome (TCS, OMIM 154500), also known as Franceschetti-Klein syndrome, is a rare disorder that affects the first and second branchial arches. The estimated incidence is 1/50 000 live births. Mutations in TCOF1 (78%-93%) and POLR1C or POLR1D (8%) cause the disease. Most of TCS cases are inherited in a dominant pattern, while a small proportion are inherited in a recessive pattern. TCS has a variable phenotype with typical clinical characteristics including downward-slant of palpebral fissure, malar hypoplasia, mandibular hypoplasia and microtia. TCS management is a multidisciplinary affair, as interventions range from reconstructive to psychosocial. For hearing rehabilitation, TCS patients may have the choices of BAHA, ponto, vibrant soundbridge or bonebridge implantation. In this review, we summarize the TCS clinical malformations, diagnosis, genetics, management and auditory rehabilitation.

  4. 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.

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

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    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 chromosomemore » 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.« less

  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. Measurement of the Area of Corneal Exposure Using Digital Image and Its Application During Assessment for Blepharoplasty.

    PubMed

    Park, Kisoo; Guo, Ziyi; Park, Dae Hwan

    2018-02-01

    The normal morphological and functional values of orbits vary according to race, sex, and age. We measured the palpebral fissure using the marginal reflex distance (MRD 1 ), marginal limbal distance (MLD), and vertical height of the palpebral fissure (VHPF). Unfortunately, these measurements are all one-dimensional figures that measure the distance between two points; they have limitations when it comes to measuring the three-dimensional ocular surface. Therefore, this study used the area of corneal exposure (ACE), which shows a two-dimensional area, to measure changes between the sizes of eyes according to age. This study was conducted using preoperative photographs of Koreans in Daegu city, Korea, who underwent plastic surgery in our department except for eyelid surgery. We divided the subjects into eight groups, including ten males and ten females in each decade of age, from age 10 to over 80 years. A total of 160 people were recruited who were followed up for photograph analysis using Adobe Photoshop 7.0 software. In terms of the mean value, the ACEs were 73.3 ± 2% in male subjects and 77.1 ± 2% in female subjects, and values for female subjects were greater than those for male subjects (p < 0.05). Significant differences in ACEs were observed according to age. The peak level of growth in the ACE was reached between 20 and 29 years of age. After the 20 s, a gradual decrease was observed (p < 0.05). The peak level of growth in the ACE was reached between 20 and 29 years of age. The growth pattern can be classified as continuously decreasing after reaching the peak level. The data from this study are significant in that they can be used as comprehensive data for normal eyelid values according to age. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to Table of Contents or the online Instructions to Authors www.springer.com/00266 .

  8. Effects of intravenous and topical laryngeal lidocaine on heart rate, mean arterial pressure and cough response to endotracheal intubation in dogs.

    PubMed

    Thompson, Kate R; Rioja, Eva

    2016-07-01

    To compare the effects of intravenous (IV) and topical laryngeal lidocaine on heart rate (HR), mean arterial pressure (MAP) and cough response to endotracheal intubation (ETI) in dogs. Prospective, randomized, blinded clinical study. Forty-two client-owned dogs (American Society of Anesthesiologists class I and II status) undergoing elective orthopaedic surgery. Dogs were randomized to three groups. Dogs in group SALIV received 0.1 mL kg(-1) IV saline. Dogs in group LIDIV received 2 mg kg(-1) IV 2% lidocaine. Dogs in group LIDTA received 0.4 mg kg(-1) topically sprayed laryngeal 2% lidocaine. All dogs were premedicated with methadone (0.2 mg kg(-1) IV). After 30 minutes, IV propofol was administered to abolish the lateral palpebral reflex and produce jaw relaxation. The allocated treatment was then administered and, after 30 seconds, further propofol was administered to abolish the medial palpebral reflex and facilitate ETI. HR and MAP were measured at four time-points using cardiac auscultation and automated oscillometry, respectively. The cough response at ETI was recorded. One-way anova and post hoc Tukey adjustment were used to analyse parametric data. The Kruskal-Wallis test was used to analyse non-parametric data. Odds ratios were calculated for the cough response. A p-value of ≤0.05 was considered to indicate statistical significance. In response to ETI, changes in MAP differed significantly between groups. In SALIV, MAP increased (4 ± 6 mmHg), whereas it decreased in LIDIV (6 ± 13 mmHg) (p = 0.013) and LIDTA (7 ± 11 mmHg) (p = 0.003). Dogs in SALIV were almost 10 times more likely to cough than dogs in LIDIV (odds ratio 9.75, 95% confidence interval 0.98-96.60; p = 0.05). In propofol-anaesthetized dogs, IV and topical laryngeal lidocaine attenuated the pressor response to ETI, whereas IV lidocaine reduced the cough response. © 2015 Association of Veterinary Anaesthetists and the American College of Veterinary Anesthesia and

  9. Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.

    PubMed

    van Trier, Dorothée C; Vos, Anna M C; Draaijer, Renske W; van der Burgt, Ineke; Draaisma, Jos M Th; Cruysberg, Johannes R M

    2016-10-01

    To determine the full spectrum of ocular manifestations in patients with Noonan syndrome (NS). Prospective cross-sectional clinical and genetic study in a tertiary referral center. Twenty-five patients with NS (mean age, 14 years; range, 8 months-25 years) clinically diagnosed by validated criteria. All patients were examined by the same team following a detailed study protocol. Genetic analyses were performed in 23 patients. Ocular abnormalities of vision and refraction, external ocular features, ocular position and motility, anterior segment, posterior segment, and intraocular pressure. Ocular features of vision and refraction were amblyopia (32%), myopia (40%), and astigmatism (52%). External ocular features were epicanthic folds (84%), hypertelorism (68%), ptosis (56%), high upper eyelid crease (64%), lower eyelid retraction (60%), abnormal upward slanting palpebral fissures (36%), downward slanting palpebral fissures (32%), and lagophthalmos (28%). Orthoptic abnormalities included strabismus (40%), abnormal stereopsis (44%), and limited ocular motility (40%). Anterior segment abnormalities included prominent corneal nerves (72%) and posterior embryotoxon (32%). Additional ocular features were found, including nonglaucomatous optic disc excavation (20%), relatively low (<10 mmHg) intraocular pressure (22%), and optic nerve hypoplasia (4%). Mutations were established in 22 patients: 19 PTPN11 mutations (76%), 1 SOS1 mutation, 1 BRAF mutation, and 1 KRAS mutation. The patient with the highest number of prominent corneal nerves had an SOS1 mutation. The patient with the lowest visual acuity, associated with bilateral optic nerve hypoplasia, had a BRAF mutation. Patients with severe ptosis and nearly total absence of levator muscle function had PTPN11 mutations. All patients showed at least 3 ocular features (range, 3-13; mean, 7), including at least 1 external ocular feature in more than 95% of the patients. Noonan syndrome is a clinical diagnosis with multiple

  10. Atopic keratoconjunctivitis with corneal ulcer. Case report.

    PubMed

    Zemba, Mihail; Burcea, Marian; Camburu, Georgiana

    2016-01-01

    Purpose: To report the case of a 14-year-old male patient, with bilateral atopic keratoconjunctivitis with corneal ulcer. Methods: The patient complained of bilateral red, itchy eyes, decreased vision, photophobia, difficulty opening the eyelids upon awakening, palpebral edema, excessive tearing, along with yellowish mucous discharge. He had a two-year history of chronic blepharitis and recurrent episodes of conjunctivitis that were treated with Tobramycin and corticosteroid eye drops over the years. The patient's past medical history was significant for atopic dermatitis (AD) and he had a family history for atopy. At the eye exam: his best-corrected visual acuity at the initial presentation was 0.2 in the right eye and 1.0 in the left eye. The following elements were found upon the slit lamp biomicroscopy: Eyelids - +4 palpebral edema (pseudoptosis), Dennie-Morgan fold and Herthoge's sign were both present, tylosis; Conjunctiva - hyperaemia, cobblestone appearance of the tarsal papillae in both eyes, +2 chemosis; Cornea - corneal edema with a 8 mm × 4 mm epithelial defect in the inferior part of the cornea, covered partially by the lied, that stained positive with fluorescein dyes. Using the Evaluation Signs Severity for Allergic Ocular Diseases, a diagnosis of bilateral atopic keratoconjunctivitis with a grade 3 status for the right eye and a grade 2 status, was made. It was decided that he should be administered Olopatadine hydrochloride and Sodium cromoglicate eye drops, along with Moxifloxacin and steroid eye drops. The microbiological exam tested positive for staphylococcus aureus, and, based on the sensitivity pattern, Chloramphenicol eye drops had to be added to the treatment. After 2 weeks, his symptoms diminished, pain was significantly relieved and inflammation was markedly reduced, but the corneal ulcer persisted. In order to prevent corneal perforations, amniotic membrane transplantation (AMT) was used to promote epithelialization. Results: A month

  11. An Individualized 3-Dimensional Designed and Printed Conformer After Dermis Fat Grafting for Complex Sockets.

    PubMed

    Mourits, Daphne L; Remmers, Jelmer S; Tan, Stevie H; Moll, Annette C; Hartong, Dyonne T

    2018-04-03

    To introduce a novel technique to design individually customized conformers for postenucleation sockets with dermis fat implants. We use a 3-dimensional scan of the frontal face/orbit and eyelid contour to design an individualized conformer. This polymethylmetacrylate printed conformer is adapted to patients' socket, palpebral fissures, horizontal eyelid aperture, curvature of the eyelids, and mean diameter of patients' contralateral eye. Sutures through holes in the inferior part of the conformer and in the extension can be placed to fixate the conformer and anchor fornix deepening sutures. A correct fitting conformer can be printed and attached to the socket and eyelids. The shape of this conformer can be used subsequently postsurgically to design the ocular prosthesis. Presurgical planning is important to anticipate for a functional socket to adequately fit an artificial eye. The presented technique using 3-dimensional imaging, designing, and printing promises to prevent conformer extrusion and forniceal shortening.

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

    PubMed Central

    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. PMID:23202401

  13. Eyelid bags

    PubMed Central

    2010-01-01

    Eyelid bags are considered a sign of ageing, but they often appear prematurely due to the variety of causes that favor them. This brief report describes the case of a patient who was referred to us for the correction of a second degree bilateral palpebral ptosis that the patient had suffered from for several years and that in recent months had worsened to the point of interfering with vision and who, aside from modest eyelid bags, presented a massive protrusion of "preocular" fatty tissue. Despite the indication of classic blepharoplasty through a lower lid incision and, therefore, the possibility of removing excess skin, the patient opted instead only for the removal of the bulging fat. The patient's postoperative results were normal and the patient was extremely satisfied with both the correction of the ptosis and the "rejuvenating" effect of removing the protruding orbital fat in the eyelid. PMID:20565888

  14. Late Onset of Cerebellar Abiotrophy in a Boxer Dog

    PubMed Central

    Gumber, Sanjeev; Cho, Doo-Youn; Morgan, Timothy W.

    2010-01-01

    Cerebellar abiotrophy is a degenerative disorder of the central nervous system and has been reported in humans and animals. This case report documents clinical, histopathological, and immunohistochemical findings of cerebellar abiotrophy in an adult Boxer dog. A 3.5-year-old, female, tan Boxer dog presented with a six-week history of left-sided head tilt. Neurological examination and additional diagnostics during her three subsequent visits over 4.5 months revealed worsening of neurological signs including marked head pressing, severe proprioceptive deficits in all the four limbs, loss of menace response and palpebral reflex in the left eye, and a gradual seizure lasting one hour at her last visit. Based on the immunohistochemical staining for glial fibrillary acidic protein and histopathological examination of cerebellum, cerebellar cortical abiotrophy was diagnosed. This is the first reported case of cerebellar abiotrophy in a Boxer dog to our knowledge. PMID:21151662

  15. Primary conjunctival amyloidosis.

    PubMed

    Chakraborti, Chandana; Chaudhury, Krittika P; Biswas, Ranu Roy

    2014-01-01

    A 19-year-old previously healthy male presented with a 4 year history of painless drooping of right upper eyelid. On eversion of the right upper eyelid, a yellowish pink mass was seen in the tarsal region. Rest of the ocular examination was normal in both the eyes. Initial biopsy showed chronic inflammation. Subsequently, the entire mass was excised and histopathological examination showed the presence of amyloid in the subconjunctival stroma. At 3 months follow-up, similar lesion was detected in the right lower, left upper, and lower lid, which were treated with cryotherapy, with partial resolution. Patient has been followed up for more than 2 years without any complaints. To our knowledge, this is the first case report of an isolated primary conjunctival amyloidosis with involvement of both the upper and lower palpebral conjunctiva of either eye. It was treated successfully by excision and cryotherapy.

  16. Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation.

    PubMed

    Chen, Chih-Ping; Lin, Shuan-Pei; Tsai, Fuu-Jen; Chern, Schu-Rern; Wang, Wayseen

    2008-06-01

    To describe the clinical findings of a patient with mosaic 45,X/47,XXX and aortic coarctation. Descriptive case study. Tertiary medical center. A 6-year-old girl with stigmata of Turner syndrome, aortic coarctation, patent ductus arteriosus, and a peculiar facial appearance. None. Cytogenetic analysis. The patient manifested a characteristic Kabuki syndrome facial appearance with long palpebral fissures, everted lateral third of lower eyelids, arched eyebrows, a depressed nasal tip, large dysplastic ears and epicanthic folds. She had undergone cardiac surgery for treatment of aortic coarctation and patent ductus arteriosus. Cytogenetic analysis of the blood lymphocytes revealed a karyotype of mos 45,X,9ph [35 cells]/47,XXX,9ph [5 cells]. This is the first report of mosaic 45,X/47,XXX associated with Kabuki syndrome. We emphasize that Kabuki syndrome, a peculiar facial appearance and aortic coarctation, should be considered in girls with sex chromosome abnormalities.

  17. Design Structure Matrix (DSM) Methods and Applications for Naval Ship Design

    DTIC Science & Technology

    2013-05-23

    Fax: 817-257-7227 E-mail: t.browninufetcu.edu Web : www. t vsonbrown i ng. com Administrative/Business Contact: Mrs. Teresa Miles Hendrix, MPA...mail: t.browninu(ajtcii.edu Web : www.tvsonbrownina.com Administrative/Business Contact: Mrs. Teresa Miles Hendrix, MPA Assistant Director of...STAKEHOLDER COM ABORDAGEM DE SISTEMAS ADAPTATIVOS A COMPLEXIDADE John Findlay, Ph D. e Abby Straus, M. Div. IMPLEMENTANDO FLEXIBILIDADE

  18. Thelazia callipaeda infestation in Bangladesh: a case report.

    PubMed

    Akhanda, A H; Akonjee, A R; Hossain, M M; Rahman, M A; Mishu, F A; Hasan, M F; Akhanda, T H

    2013-07-01

    A 5 years old girl was admitted to Ophthalmology department of Mymensingh Medical College Hospital, Mymensingh with excessive watering, redness and movement of something in her right eye for last 2 months. She had unaided visual acuity- 6/6, matted eye lashes and mucoid discharge in right eye. Follicles were present on the fornices and lower palpebral conjunctiva of the same eye. On eversion of the right upper lid there were silicon tube like coiled moving structures seen at the lateral part of the upper fornics. Six nematodes were seen in the upper fornics around the duct of lacrimal glands. After removing the nematodes, one specimen was sent to parasitology department of Bangladesh Agriculture University for species identification. They reported that sending specimen is an adult "Thelazia Callipaeda". By the present study, the presence of human ocular T. callipaeda infestation is second reported case in Bangladesh. Ophthalmologists should be aware about parasitic infestation of conjunctiva.

  19. Rotation of lathe-cut hydrogel lenses on the eye.

    PubMed

    Harris, M G; Harris, K L; Ruddell, D

    1976-01-01

    The rotation lathe-cut HydroCurveTM gel contact lens was measured on six eyes to evaluate the parameters that influence lens rotation and to determine if this lens could be used to correct astigmatism. Of the 72 observations made, 73.6% showed some lens rotation, and 33.4% of the sample rotated more than 5 degrees per 10 blinks. Of the observations in which rotation was noted, 88.7% were encyclorotation. These results are similar to those found for spin-cast hydrogel lenses. None of the lens parameters evaluated seemed to be related to lens rotation, whereas the eye parameters studied were. Lenses were more likely to rotate on eyes with smaller corneal diameters, smaller palpebral apertures, and corneal curvatures steeper than 4 3.00 DK (X2, N =72, p less than 0.05). Our findings indicate that some method of lens stabilization will be needed before lathe-cut hydrogel lenses can be used to effectively correct astigmatism.

  20. Optimal parameters for marking upper blepharoplasty incisions: a 10-year experience.

    PubMed

    Halvorson, Eric G; Husni, Nicholas R; Pandya, Sonal N; Seckel, Brooke R

    2006-05-01

    Although a variety of techniques for upper blepharoplasty have been described, few studies illustrate and clinically evaluate a system for marking incisions. Presented is a 10-year experience using a specific method for marking upper blepharoplasty incisions that consistently yielded excellent esthetic results. All upper blepharoplasties performed by the senior author between April, 1994 and April, 2004 were reviewed. Markings were designed to end the medial incision 6 mm from the angular vein, end the lateral incision 12 mm from the palpebral fissure, and to extend the incisions superiorly at 45 degrees. Over 10 years, 476 patients underwent cosmetic upper blepharoplasty. There were 22 (4.6%) revisions. Eighteen (3.8%) were performed in clinic using CO2 laser, and 4 (0.8%) patients required surgical revision. Patient satisfaction was high, and no scars were visible outside the brow. Excellent outcomes can be expected using this simple, reproducible, and widely applicable system for marking upper blepharoplasty incisions.

  1. Repair of a facial defect with an interpolation skin flap in a cat.

    PubMed

    Allen, S W; Miller, M A; Haas, K M

    1997-05-01

    A 9-year-old domestic shorthair cat was referred for removal of a rostrally located fibrosarcoma on the face, which had previously recurred twice following excision. A wide excision was performed, using a neodymium:yttrium-aluminumgarnet (Nd:YAG) laser, resulting in a facial defect that could not be closed by primary suture. An interpolation skin flap was elevated, using skin from the side of the cat's face, and sutured in place over the defect. Recurrence of the tumor at the medial canthus of the left eye, which was observed 4 months after surgery, was treated by laser excision and cryotherapy. Other recurrences of the fibrosarcoma were not noticed for 2.5 years after referral, at which time the cat was euthanatized for other reasons. Necropsy revealed that the fibrosarcoma had not recurred. In this cat, an interpolation skin flap was useful in repairing a large rostral facial defect. Care should be taken when elevating this flap to preserve the palpebral nerve.

  2. Orbital mass secondary to infantile acute lymphoblastic leukaemia.

    PubMed

    Hossain, Ibtesham Tausif; Moosajee, Mariya; Abou-Rayyah, Yassir; Pavasovic, Vesna

    2016-05-03

    An 8-month-old Asian infant girl was referred with a 1-week history of left periorbital swelling on a background of a narrowed left palpebral aperture over the preceding 8 weeks. There was no history of chronic illness, fever or other systemic features. Examination revealed a tender and fluctuant medial canthal swelling with associated periorbital haematoma. There were no other ophthalmic findings and neurological examination was normal. A MRI scan of the brain and orbit demonstrated abnormal soft tissue with features of an aggressive tumour in the left orbital region with no globe invasion. Peripheral blood smear revealed blast cells, confirmed by bone marrow aspirate. A diagnosis of infant acute lymphoblastic leukaemia was made. The patient was started on risk-stratified chemotherapy according to the Interfant-06 Protocol The periorbital swelling resolved by day eight following a course of prednisolone, the patient continues on chemotherapy and is currently in molecular remission. 2016 BMJ Publishing Group Ltd.

  3. 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.

  4. Congenital Arteriovenous Malformation of the Scalp Involving the Orbit.

    PubMed

    Feletti, Alberto; Dimitriadis, Stavros; Vallone, Stefano; Pavesi, Giacomo

    2018-06-15

     Arteriovenous malformations (AVMs) of the scalp are rare and infrequently encountered by the neurosurgeon.  We report a unique case of a 42-year-old patient who presented with a progressive worsening of visual acuity in the right eye (lower quadrantanopia) and palpebral ptosis. Physical examination revealed a right exophthalmos and a right frontoparietal scalp soft swelling when the patient was in the supine position. Neurologic work-up showed a scalp AVM extending into the orbit and connected to an intraorbital cavernous angioma. The patient was treated with a frontotemporal craniotomy and decompression of the orbit.  In the rare case of intraorbital extension of a scalp AVM, neurologic symptoms may appear when the size of the vascular malformation increases with age. The aims of surgery should be decompression of the orbit and aesthetic preservation, rather than complete excision. A review of the literature is also provided. Georg Thieme Verlag KG Stuttgart · New York.

  5. Primary Conjunctival Tuberculosis Presenting as Dry Eye: A Rare Case Report and Review of the Literature.

    PubMed

    Brar, Rupinder Kaur; Singh, Ashok; Deshpande, Archana Hemant; Gargade, Chitrawati Bal; Das, Sujit

    2017-11-01

    Primary conjunctival tuberculosis is very rare in the developed countries. In an endemic country like India, it should be considered in the differential diagnosis of any unusual conjunctival lesion with unilaterality, chronicity, and nonresolution of symptoms after steroid use. We present the case of a 52-year-old female who presented with unilateral itching and blurring of vision for 20 days. There were irregular nodular elevated areas with shrinkage of the lower palpebral conjunctiva. A biopsy of the lesion revealed necrotizing epithelioid cell granulomas along with Langhans type of giant cells. However, no acid-fast bacilli were seen on Ziehl-Neelsen stain. Systemic examination of the patient was normal, and there was no evidence of pulmonary tuberculosis. Polymerase chain reaction of conjunctival scrapings was positive for Mycobacterium tuberculosis . The patient was started on antitubercular drugs. We present this very rare case of primary tuberculosis of the conjunctiva presenting with dryness of the eye.

  6. Supra-tarsal injection of dexamethasone in the treatment of patients with refractory vernal keratoconjunctivitis.

    PubMed

    Lisanework, Mulu

    2003-01-01

    The response to supratarsal injection of dexamethasone in severe refractory vernal keratoconjunctivitis was studied in 20 patients (14 males and 6 females) at the ophthalmology department of Menelik II Hospital, Addis Ababa in 1997. Majority of the patients were in the age range of 11-20 years with mean age of 14.6 years. Although all patients experienced relief of symptoms in the first 2 days of dexamethasone injection, symptoms recurred in the majority 16 (80%) of the patients. Cobble stone papillae and limbal signs disappeared in 2 (11%) and 5 (38%) of the patients respectively. Resolution of limbal form of the disease is more dramatic when compared to the palpebral form. This study showed that supratarsal injection of dexamethasone in severe vernal keratoconjunctivitis is effective in few, partially effective in some and ineffective in many of our patients. Further studies, particularly a randomized controlled trial is recommended prior to utilization of this new therapeutic modality as a standard form of treatment in Ethiopian patients.

  7. Bilateral ocular abnormalities in a wild stranded harp seal (Phoca groenlandica) suggestive of anterior segment dysgenesis and persistent hyperplastic primary vitreous.

    PubMed

    Erlacher-Reid, Claire; Colitz, Carmen M H; Abrams, Ken; Smith, Ainsley; Tuttle, Allison D

    2011-06-01

    A male yearling harp seal (Phoca groenlandica) stranded and was brought to Mystic Aquarium & Institute for Exploration's Seal Rescue and Rehabilitation Center. The seal presented with a bilateral pendular vertical nystagmus, negative menace response, and a positive palpebral response. Ophthalmological examination by slit lamp biomicroscopy revealed perilimbal corneal edema, excessive iridal surface structures, pupils that appeared to be shaped improperly (dyscoria), and suspected cataracts. Attempts to dilate the pupils with both dark-lighted conditions and repeated dosages of 10% phenylephrine and 1% atropine ophthalmic solution in each eye (OU) were unsuccessful. Ocular ultrasonography findings suggested bilateral cataracts with flattened anterior-posterior (A-P) diameter and possible persistent hyperplastic primary vitreous. It is possible that these structural congenital abnormalities could produce further ocular complications for this seal including uveitis, secondary glaucoma, retinal detachment, and/or vitreal hemorrhage in the future. This case demonstrates the importance of a thorough ophthalmological examination in stranded wild animals, especially if their symptoms appear neurological.

  8. 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. 2014 BMJ Publishing Group Ltd.

  9. 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.

  10. Clinical evaluation of long-term users of two contact lens care preservative systems.

    PubMed

    Young, Graeme; Keir, Nancy; Hunt, Chris; Woods, Craig A

    2009-03-01

    To clinically evaluate long-term users of two different contact lens care preservative systems and to investigate whether prolonged use is associated with an increase in the prevalence of dry eye. Eighty-nine wearers of group IV hydrogel or silicone hydrogel lenses participated in this one-visit, investigator-masked study. Subjects were required to have consistently used a polyhexamethylene biguanide (PHMB) or polyquaternium-1 (PQT) based solution for 2 years. Consistent use was defined as 80% for the past 2 years and 100% for the past year. Clinical assessments included: average and comfortable wear time; overall and end-of-day comfort; signs of dryness, discomfort, burning or stinging, grittiness or scratchiness and visual changes; non-invasive and fluorescein break-up-time; pre-ocular tear film lipids, tear meniscus height, Schirmer and fluorescein clearance tests; limbal and bulbar hyperemia; palpebral roughness; corneal and conjunctival staining; lens front surface wetting; and lens film deposits. Significantly more grittiness or scratchiness was reported by subjects using a PHMB-containing system (67% vs. 44%; P = 0.02). Palpebral roughness and hyperemia were significantly greater in the PHMB group wearing group IV lenses (P = 0.01 and P = 0.05, respectively). Corneal staining was significantly higher in the PHMB users in all four peripheral sectors (P < 0.01). Nasal and temporal conjunctival staining was also significantly higher for users of PHMB-containing systems (P < 0.05). Front surface lens wettability was significantly better for group IV PQT users compared to PHMB users (P = 0.008), with 84% vs. 72%, respectively, with lenses graded by the investigator as having "good" or "excellent" wettability. Significantly higher levels of lens front surface film deposits were noted with PHMB users (P = 0.007), with 58% of group IV lenses treated with PHMB compared with 38% of group IV lenses treated with PQT showing some lens front surface film deposition. No

  11. Anthropometry of eyelid and orbit in four southern Thailand ethnic groups.

    PubMed

    Preechawai, Passorn

    2011-02-01

    To study the basic eyelid and orbital measurement in the four main ethnic groups of southern Thailand. The basic eyelid and orbital surface anatomy of 101 normal subjects aged 20-40 years old were measured in the four ethnic groups of which the majority of people in southern Thailand belong to: Thai, Chinese, Thai-Malay, and Thai-Chinese. Of the 101 subjects, 51 were male and 50 were female. Each ethnic group had at least 12 normal subjects. Male-female data were analyzed separately and compared between groups. The palpebral fissure heights in Thai, Chinese, Thai-Malay, and Thai-Chinese males were 9.5, 9.0, 10.2 and 9.6 mm respectively, which demonstrated statistically significant differences between Thai-Malay versus Thai, and Thai-Malay versus Chinese. The palpebral fissure lengths were 30.4, 29.8, 30.5 and 30.5 mm, but without statistically significant differences. The marginal reflex distances were 3.2, 2.8, 3.7 and 3.1 mm respectively with a statistically significant difference only between Thai-Malay versus Chinese. The levator functions were 15.2, 15.2, 15.3 and 15.2 mm. The upper lid creases were 7.1, 4.0, 6.6, and 4.4 mm, statistically significantly different in Thai versus Chinese, Thai versus Thai-Chinese and Chinese versus Thai-Malay. The Hertel exophthalmometer measurements were 15.4, 16.3, 16.6 and 15.9 mm without statistically significant differences. The female measurements were overall similar to the male measurements, with some parallel differences between the groups. The eyebrow position in this age group was mostly at and above the orbital rim in both genders and all ethnic groups. An absence of upper lid crease and an epicanthal fold were found in significantly greater numbers in the Chinese group compared to the others, while parallel lid crease was significantly found in greater numbers in the Thai-Malay group than in the others. Different eyelid characteristics in diferent ethnic groups are an important feature to note when planning for

  12. Analysis of main constituents and mechanisms underlying antidepressant-like effects of Xiaochaihutang in mice.

    PubMed

    Zhang, Kuo; Wang, Fang; Yang, Jing-yu; Wang, Li-juan; Pang, Huan-huan; Su, Guang-yue; Ma, Jie; Song, Shao-jiang; Xiong, Zhi-li; Wu, Chun-fu

    2015-12-04

    Xiaochaihutang (XCHT), a famous Chinese herbal formula which consists of seven Chinese herbs, has been used clinically in depressive disorders in China. Our previous studies have demonstrated that XCHT improved depressive-like behavior in several animal models of depression. However, therapeutic basis of XCHT on depression are challenging, due to the complex active constituents of XCHT and the unclear pharmacological mechanism of action. To provide further insights into therapeutic basis of XCHT, the core in compatibility of XCHT on antidepressant therapy was assessed by the method of orthogonal array design. The comparative evaluations on antidepressant effects of XCHT and its core in compatibility were executed by tail suspension test (TST), forced swim test (FST), novelty suppressed feeding test (NSFT), reserpine-induced hypothermia and palpebral ptosis. Moreover, the potential mechanism was explored by investigating levels of monoamine neurotransmitters in hypothalamus and striatum and neurogenesis in hippocampus. Chemical profile of active constituents in plasma after oral administration of the core in compatibility of XCHT was revealed by ultra performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS). The results of orthogonal array design experiment showed that Huangqin (Radix scutellariae), Renshen (Ginseng) and Gancao (Radix glycyrrhizae), defined as HRG, might be the core in compatibility of XCHT on antidepressant therapy. In accordance with XCHT, oral administration of HRG for 15 days significantly reduced immobility duration in TST and FST without affecting locomotor activity. Both HRG and XCHT increased immobility latency in FST, decreased the latency in NSFT, reversed reserpine-induced hypothermia and palpebral ptosis. Moreover, both HRG and XCHT significantly increased levels of 5-HT and DA in hypothalamus. In addition, HRG could remarkably increase Ki-67 and doublecortin (DCX) positive cells in hippocampus. A total 25 active

  13. Transnasal tendon suspension for the paralyzed lower eyelid.

    PubMed

    Yoo, John; Matic, Damir

    2015-08-01

    Paralytic ectropion is a significantly functional and esthetic problem leading to problems with lacrimation, corneal exposure, and poor palpebral closure. Limitations with traditional corrective procedures include poor apposition of the lid to the globe, suboptimal medial canthal position, and high recurrence rates. The objective of this study was to develop a technique of lower-lid suspension using transnasal wiring for the long-term maintenance of lid position. Twenty-three consecutive patients with complete unilateral facial nerve paralysis underwent the procedure, and they were followed up for a median of 27 months (1-73 months). Fifteen of 18 patients maintained their intraoperative lower-lid position beyond the 12-month follow-up. Three patients had a minimal scleral show at 3 months. One of these patients also developed lid laxity seen on the snap test. No perioperative complications were experienced. Transnasal wiring of the lower-lid tendon suspension provides consistent results that are maintained over time. Copyright © 2015 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  14. The effects of PEP-1-FK506BP on dry eye disease in a rat model.

    PubMed

    Kim, Dae Won; Lee, Sung Ho; Ku, Sae Kwang; Lee, Ji Eun; Cha, Hyun Ju; Youn, Jong Kyu; Kwon, Hyeok Yil; Park, Jong Hoon; Park, Eun Young; Cho, Sung-Woo; Han, Kyu Hyung; Park, Jinseu; Eum, Won Sik; Choi, Soo Young

    2015-03-01

    As FK506 binding proteins (FK506BPs) are known to play an important role in the regulation of a variety of biological processes related to cell survival, this study was designed to examined the protective effects of FK506 binding protein 12 (FK506BP) on low humidity air flow induced dry eye in a rat model using transduced PEP-1-FK506BP. After the topical application of PEP-1-FK506BP, tear volumes were markedly increased and significant prevention of cornea damage was observed compared with dry eye rats. Further, immunohistochemical analysis demonstrated that PEP-1-FK506BP markedly prevented damage to the cornea, the bulbar conjunctiva, and the palpebral conjunctiva epithelial lining compared with dry eye rats. In addition, caspase-3 and PARP expression levels were found to be decreased. These results demonstrated that topical application of PEP-1-FK506BP significantly ameliorates dry eye injury in an animal model. Thus, we suggest that PEP-1-FK506BP can be developed as a new ophthalmic drop to treat dry eye diseases.

  15. Upper limb malformations in chromosome 22q11 deletions

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Shalev, S.A.; Dar, H.; Barel, H.

    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 oralmore » 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.« less

  16. Central nervous system abnormalities and psychomotor retardation in a girl with a 15.4-MB deletion of 14q12→q21.2 and a 550-KB deletion of 18p11.23: microarray delineation of an unbalanced chromosome rearrangement and a literature review.

    PubMed

    Torun, D; Arslan, M; Akar, H; Karaer, K; Ünay, B; Tunca, Y

    This paper describes the presence of a 15.4 Mb deletion of 14q12→q21.2 and a 550-KB deletion of 18p11.23 in a patient with an apparently balanced translocation between chromosomes 14 and 18 [t( 14; 18) (ql2; pi 11)]. The patient had developmental delay, truncal hypotonia, hyperreflexia and spasticity of the lower extremities, prominent forehead, fullness of the periorbital region, hypertelorism, upslanted palpebral fissures, systagmus, a depressed nasal bridge, down-turned conrners of the mouth, a prominent philtrum, thin upper lip, pointed chin, and deep palmar creases. Cranial MRI revealed agenesis of the corpus callosum, diffuse cerebral atrophy, and enlargement of the third and lateral ventricles. Here, we review and compare published cases with proximal 14q deletions to establish a genotype-phenotype correlation according to the deleted regions involving the 14q12, 14q13, 14q21, and 14q22q23. We also examined the literature to find cases with deleted regions overlapping the deletion in our patient to establish a clinical spectrum in proximal 14q deletions.

  17. 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.

  18. Confirmation of Down syndrome critical region by FISH analysis in a patient with add(21)(p11)

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    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 normalmore » 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.« less

  19. 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

  20. 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.

  1. Sandwich-dot enzyme-linked immunosorbent assay for the detection of canine distemper virus

    PubMed Central

    Li, Zhi; Zhang, Yanlong; Wang, Huiguo; Jin, Jinhua; Li, Wenzhe

    2013-01-01

    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. PMID:24124274

  2. Evidence of aortic dissection and Marfan syndrome in a mummy from the Capuchin Catacombs of Palermo, Sicily.

    PubMed

    Panzer, Stephanie; Thompson, Randall C; Hergan, Klaus; Zink, Albert R; Piombino-Mascali, Dario

    2018-06-08

    The authors report on the assessment of an anthropogenic mummy of a young man from the Capuchin Catacombs of Palermo, Sicily, tentatively dated from the mid- to late 19 th century AD. The mummy was investigated by full-body CT examination. CT images clearly showed aortic dissection classified as Stanford-A. Due to the relation of aortic dissection to inherited connective tissue diseases in young people, such as Marfan syndrome, conspicuous and pathological findings possibly indicating the presence of underlying Marfan syndrome were assessed. Several systemic features were scored that supported the presence of underlying Marfan syndrome in this mummy. These findings were: pectus carinatum and chest asymmetry, dural ectasia, protrusio acetabuli, dolichocephaly, down-slanting palpebral fissures, malar hypoplasia and (probable) reduced elbow extension. Aortic dissection, a cardinal feature of Marfan syndrome, turned out to be the diagnostic key for the paleoradiological diagnosis of this disease. The demonstrated CT findings contribute to the spectrum of cardiovascular diseases and inherited connective tissue disease in the fields of paleopathology and paleoradiology. Copyright © 2018 Elsevier Inc. All rights reserved.

  3. High resolution replication banding combined with in situ hybridization for the delineation of a subtle chromosome rearrangement.

    PubMed

    Qumsiyeh, M B; Wilroy, R S; Peeden, J N; Tharapel, A T

    1991-10-01

    Molecular cytogenetic techniques were used to delineate a subtle chromosome rearrangement in an infant with growth and psychomotor retardation, abnormal scalp hair pattern, narrow palpebral fissures, broad nasal bridge, bulbous nose, small nostrils, thin lips in a cupid's bow configuration, bilateral simian creases, and unilateral cryptorchidism. Analysis using GTG-banded chromosomes at about 400 band level showed no obvious abnormality. Prometaphase analysis at about 600 band level showed an extra band at 14q32 on GTG-banding. The father had the same extra band suggesting a reciprocal translocation but the second chromosome involved in the translocation could not be identified. High resolution replication banding on the father's lymphocytes showed a balanced reciprocal translocation 46,XY,rcp(8;14)(q24.1;q32.1). The translocation was confirmed by in situ hybridization with an immunoglobulin heavy chain probe which maps to 14q32.3. The infant therefore had duplication of 8q24.1----qter and deficiency of 14q32.1----qter. His phenotype resembled that of patients with partial duplications of the distal long arm of chromosome 8.

  4. Scleral contact lenses for the management of complicated ptosis.

    PubMed

    Katsoulos, Konstantinos; Rallatos, Gerasimos Livir; Mavrikakis, Ioannis

    2018-06-01

    To present the management of three patients suffering from ptosis of various etiologies, with scleral contact lenses. Three patients (five eyes) with ptosis resulting from levator dehiscence due to long-term rigid gas permeable contact lens wear for keratoconus, phthisis bulbi, and myopathy due to Kearns-Sayre syndrome were identified during a 2-year period. They were fitted with scleral contact lenses in order to provide cosmesis by lifting the upper eyelid with the bulk of the lens, and simultaneously provide vision correction where applicable. The scleral contact lenses provided comfortable wear, significantly improved cosmesis as both palpebral aperture and marginal reflex distance were increased, and visual acuity was also subjectively and objectively improved. Two of the patients opted for the scleral contact lenses, whereas the parents of the third patient, a 10-year-old girl with Kearns-Sayre syndrome, chose to undergo ptosis surgery due to handling issues of the scleral contact lenses. Scleral contact lenses can be a useful addition to the treatment option for patients with complicated ptosis.

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

    PubMed

    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.

  6. PATHOGENESIS OF THE OCULAR LESIONS PRODUCED BY A DEFICIENCY OF VITAMINE A

    PubMed Central

    Yudkin, Arthur M.; Lambert, Robert A.

    1923-01-01

    The earliest lesions in ophthalmia of rats resulting from a deficiency of vitamine A consist in focal inflammatory lesions in the conjunctivæ of the lids and nictitating membrane. The involvement of the cornea, which constitutes the most conspicuous feature of the well developed ophthalmia, is a secondary phenomenon. The characteristic corneal plaque consists of keratinized epithelium beneath which the deeper layers of epithelium are generally found intact. Pathologically, the ocular manifestations of a deficiency of vitamine A are referable to a low grade inflammatory process, originating in the palpebral conjunctiva and spreading to the cornea. The rapidity of development and the degree of destruction probably depend in large part on the type of bacterial infection. The specific changes which lead to the establishment of such an infection have not been determined. It is conceivable that they may be either physiological or anatomical. There is some evidence in favor of a general disturbance of antibody formation in animals on deficient diets. The possibility of a disturbed function in the paraocular glands must be considered. PMID:19868767

  7. A Para-Canalicular Abscess Resembling an Inflamed Chalazion

    PubMed Central

    Almaliotis, Diamantis; Nakos, Elias; Siempis, Thomas; Koletsa, Triantafyllia; Kostopoulos, Ioannis; Chatzipantazi, Maria; Karampatakis, Vasileios

    2013-01-01

    Background. Lacrimal infections by Actinomyces are rare and commonly misdiagnosed for long periods of time. They account for 2% of all lacrimal diseases. Case Report. We report a case of a 70-year-old female patient suffering from a para-canalicular abscess in the medial canthus of the left eye, beside the lower punctum lacrimale, resembling a chalazion. Purulence exited from the punctum lacrimale due to inflammation of the inferior canaliculus (canaliculitis). When pressure was applied to the mass, a second exit of purulence was also observed under the palpebral conjunctiva below the lacrimal caruncle. A surgical excision was performed followed by administration of local antibiotic therapy. The histopathological examination of the extracted mass revealed the existence of actinomycosis. Conclusion. Persistent or recurrent infections and lumps of the eyelids should be thoroughly investigated. Actinomyces as a causative agent should be considered. Differential diagnosis is broad and should include canaliculitis, chalazion, and multiple types of neoplasias. For this reason, in nonconclusive cases, a histopathological examination should be performed. PMID:23762696

  8. [A rare case of Graves' disease in a patient on regular haemodialysis].

    PubMed

    Boubaker, Karima; Ounissi, Mondher; Khiari, Karima; Harzallah, Amel; Abbes, Monia; El Younsi, Fethi; Ben Abdellah, Taieb; Ben Maïz, Hedi; Kaaroud, Hayet; Kheder, Adel

    2010-07-01

    Abnormal thyroid hormone production and metabolism are relatively common in chronic renal failure and in regular haemodialysis. Graves' disease is a very unusual condition and is difficult to identify. We report a case of Graves' disease in a patient on regular hemodialysis. A 26-year-old man undergoing regular hemodialysis from unknown chronic nephropathy since four years. The patient suffered from unexplained slimming and aggressiveness. On admission, he had an irritability, tremor of the extremities, arterial hypertension not controlled by the medical treatment, discrete asynergy oculo-palpebral, glare of the glance and protrusion of the ocular spheres. The thyroid was non palpable. Biological tests demonstrated hyperthyroidism. Thyroid-stimulating hormone receptor antibodies were positive. Thyroid echography and scintiscanning showed vascular and hyperfonctionnel character of the thyroid. The patient was treated radically by radioactive iodine 131 therapy after medical preparation by antithyroid agent. He developed hypothyroidism treated by substitutive treatment. The diagnosis of Graves' disease must be evoked even in the absence of specific symptoms in haemodialysis patients. In front of clinical symptoms, since the conventional treatment is effective and inoffensive. Copyright 2010 Association Société de néphrologie. Published by Elsevier SAS. All rights reserved.

  9. 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

  10. [Sotos syndrome diagnosed by comparative genomic hybridisation].

    PubMed

    Saldarriaga, Wilmar; Molina-Barrera, Laura Camila; Ramírez-Cheyne, Julián

    2016-01-01

    Sotos Syndrome (SS) is a genetic disease with an autosomal dominant pattern caused by haplo-insufficiency of NSD1 gene secondary to point mutations or microdeletion of the 5q35 locus where the gene is located. It is a rare syndrome, occurring in 7 out of every 100,000 births. The objective of this report is to present the case of a 4 year-old patient with a global developmental delay, as well as specific physical findings suggesting a syndrome of genetic origin. Female patient, 4 years of age, thinning hair, triangular facie, long palpebral fissure, arched palate, prominent jaw, winged scapula and clinodactilia of the fifth finger both hands. The molecular test comparative genomic hybridisation test by microarray was subsequently performed, with the result showing 5q35.2 q35.3 region microdeletion of 2,082 MB, including the NSD1 gene. Finally, this article also proposes the performing of comparative genomic hybridisation as the first diagnostic option in cases where clinical findings are suggestive of SS. Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  11. Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype.

    PubMed

    Demeer, Bénédicte; Andrieux, Joris; Receveur, Aline; Morin, Gilles; Petit, Florence; Julia, Sophie; Plessis, Ghislaine; Martin-Coignard, Dominique; Delobel, Bruno; Firth, Helen V; Thuresson, Ann C; Lanco Dosen, Sandrine; Sjörs, Kerstin; Le Caignec, Cedric; Devriendt, Koenraad; Mathieu-Dramard, Michèle

    2013-01-01

    The introduction of molecular karyotyping technologies into the diagnostic work-up of patients with congenital disorders permitted the identification and delineation of novel microdeletion and microduplication syndromes. Interstitial 16p13.3 duplication, encompassing the CREBBP gene, which is mutated or deleted in the Rubinstein-Taybi syndrome, have been proposed to cause a recognisable syndrome with variable intellectual disability, normal growth, mild facial dysmorphism, mild anomalies of the extremities, and occasional findings such as developmental defects of the heart, genitalia, palate or the eyes. We here report the phenotypic and genotypic delineation of 9 patients carrying a submicroscopic 16p13.3 duplication, including the smallest 16p13.3 duplication reported so far. Careful clinical assessment confirms the distinctive clinical phenotype and also defines frequent associated features : marked speech problems, frequent ocular region involvement with upslanting of the eyes, narrow palpebral fissures, ptosis and strabismus, frequent proximal implantation of thumbs, cleft palate/bifid uvula and inguinal hernia. It also confirms that CREBBP is the critical gene involved in the duplication 16p13.3 syndrome. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  12. A unique case of a discontinuous duplication 3q26.1-3q28 resulting from a segregation error of a maternal complex chromosomal rearrangement involving an insertion and an inversion.

    PubMed

    Rodríguez, Laura; Bhatt, Samarth S; García-Castro, Mónica; Plasencia, Ana; Fernández-Toral, Joaquín; Abarca, Elena; de Bello Cioffi, Marcelo; Liehr, Thomas

    2014-02-10

    Until now, few cases of partial trisomy of 3q due to segregation error of parental balanced translocation and segregation of a duplicated deficient product resulting from parental pericentric inversion have been reported so far. Only five cases of chromosomal insertion malsegregation involving 3q region are available yet, thus making it relatively rare. In this case report, we are presenting a unique case of discontinuous partial trisomy of 3q26.1-q28 region which resulted from a segregation error of two insertions involving 3q26.1 to 3q27.3 and 3q28 regions with ~21Mb and ~2Mb sizes, respectively. The maternally inherited insertion was cytogenetically characterized as der(8)(8pter→8p22::3q26→3q27.3::3q28→3q28::8p22→8qter) and the patient's major clinical features involved Dandy Walker malformation, sub-aortic ventricular septal defect, upslanting palpebral fissures, clinodactyly, hirsutism, and prominent forehead. Besides, a review of the literature involving cases with similar chromosomal imbalances and cases with "3q-duplication syndrome" is also provided. Copyright © 2013 Elsevier B.V. All rights reserved.

  13. 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. © 2014 Wiley Periodicals, Inc.

  14. Contact lens induced papillary conjunctivitis with silicone hydrogel lenses.

    PubMed

    Sorbara, L; Jones, L; Williams-Lyn, D

    2009-04-01

    To describe the refitting of a soft lens wearer into a silicone hydrogel lens due to neovascularization. This change, in turn, caused contact lens induced papillary conjunctivitis (CLPC) and a further refitting was necessary. The patient was refit into a high Dk surface treated silicone hydrogel with a high modulus value. A second refitting was undertaken into a lower Dk silicone hydrogel contact lens with a lower modulus value which had no surface treatment but incorporated an internal wetting agent. A high Dk/t lens was used to resolve existing neovascularization and chronic hyperaemia. Subsequently, CLPC response occurred, possibly due to a combination of factors, resulting in irritation of the palpebral conjunctiva. This resulted in temporary lens discontinuation. A second silicone hydrogel lens was fit, along with the use of a non-preserved care system, which led to improvement and eventual resolution of the condition. High Dk silicone hydrogel lenses have shown excellent efficacy in resolving hypoxic complications such as neovascularization and hyperaemia. However, attention needs to be paid to their potential effect on the upper tarsal plate. More than one silicone hydrogel lens may be needed to help resolve these issues.

  15. A prospective study of the effects of radioiodine therapy for hyperthyroidism in patients with minimally active graves' ophthalmopathy.

    PubMed

    Perros, Petros; Kendall-Taylor, Pat; Neoh, Chris; Frewin, Sarah; Dickinson, Jane

    2005-09-01

    Radioiodine is an effective and safe treatment for hyperthyroidism but has been implicated as a risk factor for deterioration or new presentation of Graves' ophthalmopathy (GO). Prophylactic glucocorticoids appear to prevent this effect. The objective of this study was to document the course of GO after radioiodine therapy. This was a prospective observational study. Patients were assessed at baseline and 2, 4, 6, and 12 months after radioiodine therapy. The study was conducted at a tertiary referral center. Seventy-two GO patients with minimally active eye disease participated in the study. A fixed dose of radioiodine was administered. T(4) was commenced 2 wk later to prevent hypothyroidism. Change in activity and severity of GO were analyzed. Exophthalmometer readings, the width of the palpebral aperture, diplopia scores, and the clinical activity score improved significantly. By clinically significant criteria, the eye disease improved in four patients (transiently in three of the four cases), most likely attributable to the natural course of the disease. No patient's eyes deteriorated. Radioiodine is not associated with deterioration of GO in patients with minimally active eye disease when postradioiodine hypothyroidism is prevented.

  16. Ocular Findings in Children With 22q11.2 Deletion Syndrome.

    PubMed

    Gokturk, Bahar; Topcu-Yilmaz, Pinar; Bozkurt, Banu; Yildirim, Mahmut Selman; Guner, Sukru Nail; Sayar, Esra Hazar; Reisli, Ismail

    2016-07-01

    To identify the ocular features of children diagnosed as having 22q11.2 deletion syndrome in a Turkish population, which is the most common microdeletion syndrome with a wide range of facial and ocular abnormalities. Sixteen children aged between 4 months and 18 years with a microdeletion in chromosome 22q11.2 underwent a detailed ophthalmological examination including uncorrected and best corrected visual acuity testing, stereoscopic vision examination, biomicroscopic and indirect fundus examination, and ocular motility testing. All patients had at least one ocular abnormality. The major abnormalities were eyelid abnormalities (eye hooding, narrow palpebral fissure, telecanthus, hypertelorism, sparse and thin eyebrows and eyelashes, blepharitis, and distichiasis), posterior embryotoxon, and tortuous retinal vessels in at least half of the patients. Other ophthalmological disorders were refractive errors, iris remnants, and strabismus. The chromosome 22q11.2 deletion syndrome is associated with a wide range of ocular disorders, which necessitates a comprehensive eye examination for appropriate treatment and follow-up. Ocular findings sometimes can provide a clue to the diagnosis of 22q11.2 deletion. [J Pediatr Ophthalmol Strabismus. 2016;53(4):218-222]. Copyright 2016, SLACK Incorporated.

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

    PubMed

    Hiraoka, Takahiro; Ogami, Tomohiro; Okamoto, Fumiki; Oshika, Tetsuro

    2013-11-07

    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. 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. 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.

  18. 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

  19. Physiological alteration, quality of anesthesia and economy of isoflurane in domestic chickens (Gallus domesticus).

    PubMed

    Deori, Parag; Sarma, Kushal Konwar; Nath, Parsha Jyoti; Singh, Chandan Kumar; Nath, Rita

    2017-05-01

    Aim of the study was to evaluate the effect of isoflurane anesthesia on physiological parameters, assessment of anesthetic qualities, and economy of use of isoflurane in domestic chickens ( Gallus domesticus ). In this study, 18 apparently healthy adult domestic chickens were selected randomly and divided into three groups. The birds were anesthetized by masked induction with isoflurane at a dose rate of 3.5%, 4%, and 5% and were maintained with 1.5%, 2%, and 2.5% isoflurane with oxygen by endotracheal intubation in Groups I, II, and III, respectively. Physiological parameters, viz., cloacal temperature, heart rate, and respiration rate were recorded at 0, 5, 10, 20, 30, 40, 50, and 60 min. The quality of anesthesia was assessed on the basis of induction time, induction behavior, quality of sedation, production of analgesia, degree of muscle relaxation, palpebral reflex, recovery time, and recovery behavior. The economy of anesthesia was calculated in terms of quantity of isoflurane utilized during 60 min of study. Statistical analysis was performed by analysis of variance, Duncan's multiple range tests. There was significant decrease (p<0.01) in physiological parameters such as in cloacal temperature, heart rate and respiration rate in the birds of all the groups from 0 to 60 min. The induction time was 5.83±0.33, 2.37±0.18, and 0.87±0.15 min, respectively, in Groups I, II, and III. Induction behavior was smooth in Group III, whereas mildly stormy in Group II and I. Quality of sedation was excellent in Group III, better in Group II as compared to Group I. Analgesia was moderate in Group III whereas poor in Group II and I. Degree of muscle relaxation was excellent in Group III, whereas good in Group I and II. Palpebral reflexes were absent in all the groups. Recovery time was 15.33±0.84, 18.83±0.94, and 26.50±0.85 in Groups I, II, and III respectively. Recovery behavior was smooth in birds of all the groups. The cost of the anesthesia was 158.22±1.04, 194

  20. Gross deletions in TCOF1 are a cause of Treacher–Collins–Franceschetti syndrome

    PubMed Central

    Bowman, Michael; Oldridge, Michael; Archer, Caroline; O'Rourke, Anthony; McParland, Joanna; Brekelmans, Roel; Seller, Anneke; Lester, Tracy

    2012-01-01

    Treacher–Collins–Franceschetti syndrome (TCS) is an autosomal dominant craniofacial disorder characterised by midface hypoplasia, micrognathia, downslanting palpebral fissures, eyelid colobomata, and ear deformities that often lead to conductive deafness. A total of 182 patients with signs consistent with a diagnosis of TCS were screened by DNA sequence and dosage analysis of the TCOF1 gene. In all, 92 cases were found to have a pathogenic mutation by sequencing and 5 to have a partial gene deletion. A further case had a novel in-frame deletion in the alternatively spliced exon 6A of uncertain pathogenicity. The majority of the pathogenic sequence changes were found to predict premature protein termination, however, four novel missense changes in the LIS1 homology motif at the 5′ end of the gene were identified. The partial gene deletions of different sizes represent ∼5.2% of all the pathogenic TCOF1 mutations identified, indicating that gene rearrangements account for a significant proportion of TCS cases. This is the first report of gene rearrangements resulting in TCS. These findings expand the TCOF1 mutation spectrum indicating that dosage analysis should be performed together with sequence analysis, a strategy that is predicted to have a sensitivity of 71% for patients in whom TCS is strongly suspected. PMID:22317976

  1. Pathogenesis of POLR1C-dependent Type 3 Treacher Collins Syndrome revealed by a zebrafish model.

    PubMed

    Lau, Marco Chi Chung; Kwong, Ernest Man Lok; Lai, Keng Po; Li, Jing-Woei; Ho, Jeff Cheuk Hin; Chan, Ting-Fung; Wong, Chris Kong Chu; Jiang, Yun-Jin; Tse, William Ka Fai

    2016-06-01

    Treacher Collins Syndrome (TCS) is a rare congenital birth disorder (1 in 50,000 live births) characterized by severe craniofacial defects, including the downward slanting palpebral fissures, hypoplasia of the facial bones, and cleft palate (CP). Over 90% of patients with TCS have a mutation in the TCOF1 gene. However, some patients exhibit mutations in two new causative genes, POLR1C and POLR1D, which encode subunits of RNA polymerases I and III, that affect ribosome biogenesis. In this study, we examine the role of POLR1C in TCS using zebrafish as a model system. Our data confirmed that polr1c is highly expressed in the facial region, and dysfunction of this gene by knockdown or knock-out resulted in mis-expression of neural crest cells during early development that leads to TCS phenotype. Next generation sequencing and bioinformatics analysis of the polr1c mutants further demonstrated the up-regulated p53 pathway and predicted skeletal disorders. Lastly, we partially rescued the TCS facial phenotype in the background of p53 mutants, which supported the hypothesis that POLR1C-dependent type 3 TCS is associated with the p53 pathway. Copyright © 2016 Elsevier B.V. All rights reserved.

  2. Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.

    PubMed

    Bowman, Michael; Oldridge, Michael; Archer, Caroline; O'Rourke, Anthony; McParland, Joanna; Brekelmans, Roel; Seller, Anneke; Lester, Tracy

    2012-07-01

    Treacher-Collins-Franceschetti syndrome (TCS) is an autosomal dominant craniofacial disorder characterised by midface hypoplasia, micrognathia, downslanting palpebral fissures, eyelid colobomata, and ear deformities that often lead to conductive deafness. A total of 182 patients with signs consistent with a diagnosis of TCS were screened by DNA sequence and dosage analysis of the TCOF1 gene. In all, 92 cases were found to have a pathogenic mutation by sequencing and 5 to have a partial gene deletion. A further case had a novel in-frame deletion in the alternatively spliced exon 6A of uncertain pathogenicity. The majority of the pathogenic sequence changes were found to predict premature protein termination, however, four novel missense changes in the LIS1 homology motif at the 5' end of the gene were identified. The partial gene deletions of different sizes represent ~5.2% of all the pathogenic TCOF1 mutations identified, indicating that gene rearrangements account for a significant proportion of TCS cases. This is the first report of gene rearrangements resulting in TCS. These findings expand the TCOF1 mutation spectrum indicating that dosage analysis should be performed together with sequence analysis, a strategy that is predicted to have a sensitivity of 71% for patients in whom TCS is strongly suspected.

  3. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.

    PubMed

    Teber, Ozge Altug; Gillessen-Kaesbach, Gabriele; Fischer, Sven; Böhringer, Stefan; Albrecht, Beate; Albert, Angelika; Arslan-Kirchner, Mine; Haan, Eric; Hagedorn-Greiwe, Monika; Hammans, Christof; Henn, Wolfram; Hinkel, Georg Klaus; König, Rainer; Kunstmann, Erdmute; Kunze, Jürgen; Neumann, Luitgard M; Prott, Eva-Christina; Rauch, Anita; Rott, Hans-Dieter; Seidel, Heide; Spranger, Stephanie; Sprengel, Martin; Zoll, Barbara; Lohmann, Dietmar R; Wieczorek, Dagmar

    2004-11-01

    To define the range of phenotypic expression in Treacher Collins syndrome (TCS; Franceschetti-Klein syndrome), we performed mutation analysis in the TCOF1 gene in 46 patients with tentative diagnosis of TCS and evaluated the clinical data, including a scoring system. A total of 27 coding exons of TCOF1 and adjacent splice junctions were analysed by direct sequencing. In 36 patients with a clinically unequivocal diagnosis of TCS, we detected 28 pathogenic mutations, including 25 novel alterations. No mutation was identified in the remaining eight patients with unequivocal diagnosis of TCS and 10 further patients, in whom the referring diagnosis of TCS was clinically doubtful. There is no overt genotype-phenotype correlation except that conductive deafness is significantly less frequent in patients with mutations in the 3' part of the open reading frame. Inter- and intrafamilial variation is wide. Some mutation carriers, parents of typically affected patients, are so mildly affected that the diagnosis might be overlooked clinically. This suggests that modifying factors are important for phenotypic expression. Based on these findings, minimal diagnostic criteria were defined: downward slanting palpebral fissures and hypoplasia of the zygomatic arch. The difficulties in genetic counselling, especially diagnosis of family members with a mild phenotype, are described.

  4. 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. Copyright © 2016 Elsevier Ltd. All rights reserved.

  5. 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.

  6. Evaluation of efficacy and safety of glycopyrrolate - xylazine - propofol anesthesia in buffalo calves

    PubMed Central

    Potliya, Sandeep; Kumar, Ashok; Kumar, Sandeep; Singh, Sukhbir; Kumar, Sarvan

    2015-01-01

    Aim: To evaluate the efficacy and safety of glycopyrrolate - xylazine - propofol anesthesia in buffalo calves. Materials and Methods: The study was conducted on six clinically healthy male buffalo calves, 6-12 months of age, and weighing between 130 and 170 kg. In all the animals; glycopyrrolate (0.01 mg/kg, IM), xylazine (0.1 mg/kg, IM) and 1% propofol as single bolus (1.5 mg/kg, intravenous), were administered. The parameters observed included behavioral changes, physiological; hematological and blood biochemical parameters. Results: Muzzle and nostrils became dry in all the animals after glycopyrrolate administration. A decrease in spontaneous activity and mild cutaneous analgesia was noticed after xylazine administration. After administration of propofol, loss of swallowing reflex, palpebral reflex, corneal reflexes, periosteal reflex and complete analgesia was observed. There was no significant change in rectal temperature and heart rate. However, heart rate remained elevated during anesthesia. Respiratory rate decreased significantly after propofol administration. There was a significant increase in plasma glucose after the xylazine and propofol administration which remained elevated till recovery. A significant decrease in chloride level was seen after propofol administration. Conclusions: Glycopyrrolate - xylazine - propofol anesthetic combination may safely be used for short duration anesthesia in buffalo calves. PMID:27047082

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

    PubMed Central

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

    2016-01-01

    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. PMID:27025815

  8. The development of the eyelids. Part I. External features.

    PubMed

    Pearson, A A

    1980-01-01

    The sequence of developmental events leading to the formation of the eyelids is described in staged human embryos. By the end of the fourth week the optic vesicle lies close to the surface ectoderm. The surface ectoderm overlying the optic vesicle, in response to this contact, has thickened to form the lense placode (Stage 13). A few days later (about 32 days, Stage 14) the lens placode is indented by the lens pit. A day or two later (about 33 days, Stage 15) the lens pit is closed: however, the lens vesicle and optic cup lie close to the surface ectoderm and appear to press against the surface. Prior to the development of the eyelids, one small sulcus or groove forms above the eye (eyelid groove) and another below it (stage 16, 37 days). As these grooves deepen, in Stages 17--19, eyelid folds develop, first below, and then above, the eye. In Stages 19--22 the eyelid folds develop into the eyelids and cover more of the eye as the palpebral fissure takes shape. The upper and the lower eyelids meet at the outer canthus in Stage 19. The inner canthus is established a few days later in Stage 20. Closure of the eyelids is complete in Stage 23.

  9. 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

  10. [Magnetic resonance imaging findings on the eyelids of Japanese cadavers for anatomical studies and a comparative examination of their histological pictures].

    PubMed

    Ide, Atsushi; Wakimasu, Koichi; Shiba, Tomoko; Kodama, Junichi; Shirasawa, Nobuyuki

    2009-12-01

    To clarify ambiguous areas in interpreting MR images of Japanese eyelids, a histological examination was conducted on cadavers after the MRI for a comparative evaluation. Orbital sections including the unilateral upper and lower palpebrae of two Japanese cadavers (an 87-year-old woman and a 49-year-old man) were examined. Following MRI, the specimens of the same cadavers were examined histologically for a comparative evaluation. In both cadavers, a high signal intensity area with a hazy appearance unlike the orbital fat--fibroadipose tissue rich with connective tissue--was recognized between the orbicularis muscle and orbital septum. The same high signal intensity area that appeared to encase the posterior section of the descending orbital fat was also composed of fibroadipose tissue. Because of the presence of this intervening fibroadipose tissue, the posterior surface of the orbicularis muscle and the orbital septum could not come into contact with each other. Although limited to only two subjects, the current observation proved that fibroadipose tissue exists not only in the superficial layer of the orbital fat but that it further descends to surround the lowest portion of the orbital fat. As already reported, it was mainly the fibroadipose tissue, but not the orbital fat, that descends into the palpebral space.

  11. New X-linked mental retardation syndrome with the gene mapped tentatively in Xp22.3

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Wittwer, B.; Kircheisen, R.; Leutelt, J.

    1996-07-12

    X-linked mental retardation (XLMR) is genetically heterogeneous and clinically variable. We describe a new XLMR syndrome of severe mental retardation and multiple congenital anomalies. Two sisters have (with 3 different partners) 3 severely handicapped sons. In 2 cases, oligohydramnios and intrauterine growth retardation were noted. Common anomalies included a square-shaped face, high and broad forehead, frontal bossing, downward slant of palpebral fissures, hypertelorism, epicanthic folds, long philtrum, thin upper lip, and apparently low-set ears. One boy has bilateral microphthalmos and sclerocornea, and his cousin has atrophy of the optic nerve. All 3 patients are blind and have profound statomotor andmore » mental retardation, seizures, and a grossly abnormal electroencephalographic pattern. Additional findings are short stature, delayed bone matuation, hydronephrosis, vesicorenal reflux, cryptorchidism, clinodactyly of the 5th fingers, and transverse palmar creases. The karyotype is normal (46,XY). Segregation analysis showed perfect coinheritance between the clinical phenotype and alleles at several loci in Xp22.3, whereas recombinants were identified with marker loci from Xp22.2-qter. Analysis of multiple informative meioses suggests that the disease locus maps in Xp22.3 distal to DXS16. 9 refs., 5 figs., 2 tabs.« less

  12. Duane retraction syndrome: causes, effects and management strategies

    PubMed Central

    Kekunnaya, Ramesh; Negalur, Mithila

    2017-01-01

    Duane retraction syndrome (DRS) is a congenital eye movement anomaly characterized by variable horizontal duction deficits, with narrowing of the palpebral fissure and globe retraction on attempted adduction, occasionally accompanied by upshoot or down-shoot. The etiopathogenesis of this condition can be explained by a spectrum of mechanical, innervational, neurologic and genetic abnormalities occurring independently or which influence each other giving rise to patterns of clinical presentations along with a complex set of ocular and systemic anomalies. Huber type I DRS is the most common form of DRS with an earlier presentation, while Huber type II is the least common presentation. Usually, patients with unilateral type I Duane syndrome have esotropia more frequently than exotropia, those with type II have exotropia and those with type III have esotropia and exotropia occurring equally common. Cases of bilateral DRS may have variable presentation depending upon the type of presentation in each eye. As regards its management, DRS classification based on primary position deviation as esotropic, exotropic or orthotropic is more relevant than Huber’s classification before planning surgery. Surgical approach to these patients is challenging and must be individualized based on the amount of ocular deviation, abnormal head position, associated globe retraction and overshoots. PMID:29133973

  13. 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. © 2015 Wiley Periodicals, Inc.

  14. The use of self-inflating hydrogel expanders in pediatric patients with congenital microphthalmia in China.

    PubMed

    Hou, Zhijia; Yang, Qiong; Chen, Tao; Hao, Lei; Li, Yang; Li, Dongmei

    2012-10-01

    To report the results of enlarging orbital volume in consecutive cases of severe congenital microphthalmia by means of solid hydrophilic tissue expanders. The medical records of consecutive patients with congenital microphthalmia who underwent the placement of a hydrogel expander were retrospectively reviewed. Main outcome measures were orbital tissue expansion, prosthetic retention, and patient family satisfaction. A total of 17 patients were included in the study. All patients were able to retain an ocular prosthesis. The horizontal palpebral length increased from 71.3% of the contralateral unaffected eye to 85.4% of the contralateral unaffected eye. The expansion of orbital volume was assessed in seven patients. The volume of the microphthalmic orbits was expanded from 74.7% of the contralateral unaffected orbits to 83.5% of the contralateral unaffected orbits. Aesthetic results were satisfactory to both physicians and patient families. The following complications were noted in two patients: inferior migration of a spherical expander occurred in one case; a hemispheric expander was removed by the patient in another case. Hydrogel implants can successfully expand the dimensions of the conjunctival sac and the orbit in cases of severe congenital microphthalmia. Copyright © 2012 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.

  15. Giulio Cesare Aranzio (Arantius) (1530-89) in the pageant of anatomy and surgery.

    PubMed

    Gurunluoglu, Raffi; Shafighi, Maziar; Gurunluoglu, Aslin; Cavdar, Safiye

    2011-05-01

    Giulio Cesare Aranzio in Italian (Julius Caesar Arantius in Latin) has not received full acclaim for his achievements in the field of anatomy and surgery that remain unknown to most physicians. His anatomical books Observationes Anatomicas, and De Humano Foetu Opusculum and surgical books De Tumoribus Secundum Locos Affectos and Hippocratis librum de vulneribus capitis commentarius brevis printed in Latin and additional existing literature on Aranzio from medical history books and journals were analysed extensively. Aranzio became Professor of Anatomy and Surgery at the University of Bologna in 1556. He established anatomy as a distinguished branch of medicine for the first time in medical history. Aranzio combined anatomy with a description of pathological processes. He discovered the 'Nodules of Aranzio' in the semilunar valves of the heart. He gave the first description of the superior levator palpebral and the coracobrachialis muscles. Aranzio wrote on surgical techniques for a wide spectrum of conditions that range from hydrocephalus, nasal polyp, goitre and tumours to phimosis, ascites, haemorrhoids, anal abscess and fistulae, and much more. Aranzio had an extensive knowledge in surgery and anatomy based in part on the ancient Greek and his contemporaries in the 16th century but essentially on his personal experience and practice.

  16. 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.

  17. 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

  18. Partial trisomy 11q involving chromosome 1 detected by fluorescence in situ hybridization

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    McCorquodale, M.; Bereziouk, O.; McCorquodale, D.J.

    1994-09-01

    Partial trisomy 11q was detected in an infant delivered 3-4 weeks prematurely. The phenotype included slanted palpebral fissures, high arched palate, developmental delay, microcephaly, and cardiac defects, all of which occur in the majority of cases with this syndrome. Other features included a column-shaped skull, preauricular pit, single palmar crease, short, broad great toes, flat occiput, unilateral kidney agenesis, and strabismus. Chromosomes obtained from peripheral blood cells revealed the presence of extra material on the long arm of chromosome 1. The G-banding pattern of this extra material indicated that it might be derived from chromosome 1 or 11. Chromosomal {open_quotes}paints{close_quotes}more » showed that it was not chromosome 1 material, but was chromosome 11 material extending from band q21 to qter. Partial trisomy 11q arising from translocation of the 11q material to chromosome 2, 3, 4, 5, 6, 9, 10, 13, 17, 21, 22, and X has been reported previously, whereas translocation to chromosome 1 has not. The chromosome to which the 11q material is translocated does not alter the most frequent features of the partial trisomy 11q syndrome, but may influence other less common features.« less

  19. Detection of a complex translocation using fluorescent in situ hybridization (FISH)

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    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 ofmore » 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.« less

  20. A case definition and photographic screening tool for the facial phenotype of fetal alcohol syndrome.

    PubMed

    Astley, S J; Clarren, S K

    1996-07-01

    The purpose of this study was to demonstrate that a quantitative, multivariate case definition of the fetal alcohol syndrome (FAS) facial phenotype could be derived from photographs of individuals with FAS and to demonstrate how this case definition and photographic approach could be used to develop efficient, accurate, and precise screening tools, diagnostic aids, and possibly surveillance tools. Frontal facial photographs of 42 subjects (from birth to 27 years of age) with FAS were matched to 84 subjects without FAS. The study population was randomly divided in half. Group 1 was used to identify the facial features that best differentiated individuals with and without FAS. Group 2 was used for cross validation. In group 1, stepwise discriminant analysis identified three facial features (reduced palpebral fissure length/inner canthal distance ratio, smooth philtrum, and thin upper lip) as the cluster of features that differentiated individuals with and without FAS in groups 1 and 2 with 100% accuracy. Sensitivity and specificity were unaffected by race, gender, and age. The phenotypic case definition derived from photographs accurately distinguished between individuals with and without FAS, demonstrating the potential of this approach for developing screening, diagnostic, and surveillance tools. Further evaluation of the validity and generalizability of this method will be needed.

  1. Ocular surface changes in thyroid eye disease.

    PubMed

    Ismailova, Dilyara S; Fedorov, Anatoly A; Grusha, Yaroslav O

    2013-04-01

    To study the incidence and risk factors of ocular surface damage in thyroid eye disease (TED) and to determine histological changes underlying positive vital staining in this condition. Forty-six patients (92 eyes) with TED were included in this study. Routine ophthalmologic examination, Schirmer test I, vital staining and corneal sensitivity were performed. Fifteen patients with positive vital staining underwent impression cytology and incisional biopsy. Positive vital staining with lissamine green was observed in 56 eyes (60.9%), 30 patients (65.2%). The average degree of staining was 4.57 ± 0.44 (National Eye Institute Workshop grading system). Severe dry eye syndrome was found in 16%. The following histological changes of conjunctiva were revealed: significant epithelial dystrophy with cell polymorphism, goblet cells loss, excessive desquamation and epithelial keratinization with local leukocytic infiltration of substantia propria. According to our results dry eye syndrome is present in 65.2% of patients (60.9% eyes) with TED. Significant risk factors of ocular surface damage in TED were exophthalmos, lagophthalmos, palpebral fissure height and lower lid retraction. Positive conjunctival staining results from punctuate epithelial erosions and excessive desquamation of superficial cells. Histopathologic changes detected in conjunctiva consistent with dry eye and are not specific for TED.

  2. 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.

  3. Ocular sporotrichosis: A frequently misdiagnosed cause of granulomatous conjunctivitis in epidemic areas.

    PubMed

    Yamagata, João Paulo M; Rudolph, Fabiana B; Nobre, Maria Clara L; Nascimento, Leninha V; Sampaio, Felipe Maurício S; Arinelli, Andrea; Freitas, Dayvison F

    2017-12-01

    Sporotrichosis is a subcutaneous mycosis caused by Sporothrix sp., a dimorphic fungus. Although the cutaneous form is the most frequent form, the ocular presentation has been increasingly diagnosed in epidemic areas. We describe three cases of ocular sporotrichosis with the involvement of the ocular adnexa due to autoinoculation without trauma with successful antifungal treatment. Patient 1: A 68-year-old woman presented with granulomatous conjunctivitis of the right eye with an ulcerated nodule on the right temporal region for 5 months. Patient 2: A 46-year-old woman with conjunctival hyperemia of the left eye with associated periorbital edema and erythema for the past 4 months was referred to the Dermatology Department due to an ulcerated nodule on the left malar region. Patient 3: A 14-year-old boy presented to the emergency department with inferior palpebral edema with a 5-day evolution. Specimens were obtained from the lesions of the three patients, and the cultures were positive for Sporothrix sp. The three cases were diagnosed as ocular sporotrichosis and were successfully treated with itraconazole (200-400 mg/d). Two of the three patients developed sequelae such as conjunctival fibrosis and symblepharon. We emphasize the importance of the ophthalmologist being familiar with the diagnosis and management of this rare and frequently misdiagnosed form of sporotrichosis.

  4. Results of selected ophthalmic diagnostic tests for clinically normal Syrian hamsters (Mesocricetus auratus).

    PubMed

    Rajaei, Seyed Mehdi; Mood, Maneli Ansari; Sadjadi, Reza; Williams, David L

    2016-01-01

    To determine values for tear production, horizontal palpebral fissure length (HPFL), eye blink frequency, and intraocular pressure (IOP) in healthy Syrian hamsters (Mesocricetus auratus). 40 healthy adult Syrian hamsters (80 eyes). Tear production was measured with the phenol red thread test (PRTT), modified Schirmer tear test (mSTT), and endodontic absorbent paper points tear test (EAPPTT). The IOP was measured by use of rebound tonometry. Correlations between test results and body weight were evaluated. Mean ± SD values for the IOP, PRTT, EAPPTT, mSTT, HPFL, and blink frequency for all 80 eyes were 4.55 ± 1.33 mm Hg, 5.57 ± 1.51 mm/15 s, 4.52 ± 1.55 mm/min, 2.07 ± 0.97 mm/min, 5.84 ± 0.45 mm, and 1.68 ± 0.43 blinks/min, respectively. For all variables, values did not differ significantly between the right and left eyes or between males and females. There was no correlation between measured variables and body weight. Results for this study provided information on values for the IOP, PRTT, mSTT, EAPPTT, HPFL, and eye blink frequency in healthy Syrian hamsters. It was important to determine reference intervals for this species because they commonly are kept as pets or used as research animals.

  5. Diagnosis of aggressive subtypes of eyelid basal cell carcinoma by 2-mm punch biopsy: prospective and comparative study.

    PubMed

    Rossato, Luiz Angelo; Carneiro, Rachel Camargo; Macedo, Erick Marcet Santiago de; Lima, Patrícia Picciarelli de; Miyazaki, Ahlys Ayumi; Matayoshi, Suzana

    2016-01-01

    : to compare the accuracy of preoperative 2-mm punch biopsy at one site and at two sites in the diagnosis of aggressive subtypes of eyelid basal cell carcinoma (BCC). : we randomly assigned patients to Group 1 (biopsy at one site) and Group 2 (biopsy at two sites). We compared the biopsy results to the gold standard (pathology of the surgical specimen). We calculated the sensitivity, specificity, positive predictive value, negative predictive value, accuracy and Kappa coefficient to determine the level of agreement in both groups. : we analyzed 105 lesions (Group 1: n = 44; Group 2: n = 61). The agreement was 54.5% in Group 1 and 73.8% in Group 2 (p = 0.041). There was no significant difference between the groups regarding the distribution of quantitative and qualitative variables (gender, age, disease duration, tumor larger diameter, area and commitment of margins). Biopsy at two sites was two times more likely to agree with the gold standard than the biopsy of a single site. : the accuracy and the performance indicators were better for 2-mm punch biopsy in two sites than in one site for the diagnosis of aggressive subtypes of eyelid BCC. comparar a acurácia da biópsia pré-operatória por trépano de 2mm em um sítio e em dois sítios no diagnóstico dos subtipos agressivos de carcinoma basocelular (CBC) palpebral. os pacientes foram distribuídos aleatoriamente em Grupo 1 (biópsia em um sítio) e Grupo 2 (biópsia em dois sítios). Os resultados das biópsias foram comparados com o padrão-ouro (exame anatomopatológico da peça cirúrgica). A sensibilidade, especificidade, valor preditivo positivo, valor preditivo negativo, precisão e coeficiente Kappa foram calculados para determinar o nível de concordância nos dois grupos. foram analisadas 105 lesões (Grupo 1: n = 44; Grupo 2: n = 61). A concordância foi de 54,5% no Grupo 1 e 73,8% no Grupo 2 (p-valor = 0,041). Não houve diferença significativa entre os grupos quanto à distribuição das vari

  6. Controle orbital de satélites artificiais com propulsão e uso de gravidade lunar

    NASA Astrophysics Data System (ADS)

    Torres, K. S.; de Almeida Prado, A. F. B.

    2003-08-01

    A redução do custo de combustível de uma manobra é atualmente a grande prioridade de todos os programas espaciais existentes no mundo. As manobras assistidas pela gravidade são uma ótima forma de se contornar o problema pois proporcionam economias com vasto impacto no custo final da missão. Neste trabalho é feito um estudo particular do controle orbital de um satélite artificial da Terra usando a gravidade da Lua. O objetivo é estudar uma técnica econômica para uma mudança de plano de um satélite que está em órbita em volta da Terra. A idéia principal desta abordagem é enviar primeiramente o veículo espacial em direção à Lua usando uma manobra mono-impulsiva para que assim o campo gravitacional da Lua possa fazer a mudança de plano desejada (sem custo de combustível) e só então retornar o veículo aos valores iniciais de semi-eixo e excentricidade usando uma manobra bi-impulsiva tipo Hohmann. Para tanto, é assumido que a espaçonave inicia em uma órbita circular coplanar à órbita da lua em torno da Terra e a meta é colocá-la em uma órbita similar que difere da órbita inicial somente pela inclinação. São usadas equações analíticas baseadas na abordagem Patched Conics para se calcular a variação na velocidade, momento angular, energia e inclinação do veículo espacial que realiza esta manobra. Várias simulações são feitas para se avaliar as economias de combustível envolvidas.

  7. Genotype- phenotype correlation in trisomy X: a retrospective study of a selected group of 36 patients and review of literature.

    PubMed

    Butnariu, Lăcrămioara; Rusu, Cristina; Caba, Lavinia; Pânzaru, Monica; Braha, Elena; Grămescu, Mihaela; Popescu, Roxana; Bujoranu, C; Gorduza, E V

    2013-01-01

    Trisomy X (47,XXX) is a gonosomal aneuploidy characterized by the presence of an extra X chromosome in a female person. Usually the diagnosis is established made postnatally by chromosome analysis in patients with suggestive clinical signs. Clinical signs vary by age. In prepubertal patients have a growth retardation associated with uncharacteristic facial dysmorphism, mild mental retardation with behavioral disorders, plus clinical signs of ovarian dysgenesis, postpubertal. We analyzed retrospectively the genotype - phenotype correlations for a selected group of 36 patients diagnosed with trisomy X (homogeneous or mosaic) by cytogenetic methods (X chromatin and karyotype). Analysis of the clinical data of 36 patients diagnosed with trisomy X and correlation with the results of X chromatin and karyotype. Clinical signs detected in patients with homogeneous trisomy X 47,XXX (22.22%), mosaic 46,XX/47,XXX (16.66%) or 47,XXX/48,XXXX (5.55%) were prepubertal, growth retardation associated with dysmorphic facial (upslanted palpebral fissure, epichantus, thin lips) and postpubertal, signs of ovarian dysgenesis (secondary amenorrhea, early menopause). The phenotype of patients with different gonosomal mosaic corresponding to Turner syndrome, incorporating a cell line with trisomy X (55.55%) was variable, correlated with the type of chromosomal abnormalities detected. The results of our study are similar to those obtained in other studies and emphasizes that phenotypic variability of patients with trisomy X feature makes it difficult to genotype - phenotype correlations.

  8. A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.

    PubMed

    Marcadier, Julien L; Mears, Alan J; Woods, Elizabeth A; Fisher, Jamie; Airheart, Cory; Qin, Wen; Beaulieu, Chandree L; Dyment, David A; Innes, A Micheil; Curry, Cynthia J

    2016-01-01

    PDAC (also termed Matthew Wood) syndrome is a rare, autosomal recessive disorder characterized by pulmonary hypoplasia/aplasia, diaphragmatic defects, bilateral anophthalmia, and cardiac malformations. The disorder is caused by mutations in STRA6, an important regulator of vitamin A and retinoic acid metabolism. We describe six cases from four families of Hmong ancestry, seen over a 30 years period in California. These include: (i) consanguineous siblings with a combination of bilateral anophthalmia, diaphragmatic abnormalities, truncus arteriosus, and/or pulmonary agenesis/hypoplasia; (ii) a singleton fetus with bilateral anophthalmia, pulmonary agenesis, cardiac malformation, and renal hypoplasia; (iii) a sibling pair with a combination of antenatal contractures, camptodactyly, fused palpebral fissures, pulmonary agenesis, and/or truncus arteriosus; (iv) a fetus with bilateral anophthalmia, bushy eyebrows, pulmonary agenesis, heart malformation, and abnormal hand positioning. The phenotypic spectrum of PDAC syndrome has until now not included contractures or camptodactyly. Sequencing of STRA6 in unrelated members of families three and four identified a novel, shared homozygous splice site alteration (c.113 + 3_4delAA) that is predicted to be pathogenic. We hypothesize this may represent a unique disease allele in the Hmong. We also provide a focused review of all published PDAC syndrome cases with confirmed or inferred STRA6 mutations, illustrating the phenotypic and molecular variability that characterizes this disorder. © 2015 Wiley Periodicals, Inc.

  9. 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

  10. The use of botulinum toxin A in the treatment of functional epiphora.

    PubMed

    Whittaker, Karl W; Matthews, Bethan N; Fitt, Alan W; Sandramouli, S

    2003-09-01

    The purpose of this study was to investigate the hitherto undescribed effects of botulinum toxin A injected into the lacrimal gland in patients with functional epiphora. A prospective non-comparative interventional case series study was designed to include patients with functional epiphora who presented to the Oculoplastic unit at the Wolverhampton and Midland Counties Eye Infirmary. Botulinum toxin A (2.5-5 units) was injected into the palpebral lobe of the lacrimal gland on the worst affected side via a transconjunctival approach under topical anaesthesia. Patients underwent a Schirmer test and provided a subjective evaluation of their epiphora symptoms, indoors and outdoors, at baseline and at 1, 4 and 13 weeks after injection. The mean score for symptoms indoors and outdoors was calculated. Fourteen patients agreed to take part in the study. Subjective epiphora scores improved in 8 out of the 11 patients (72.7%) who completed 13 weeks of follow-up. Schirmer test results showed objective reduction in tearing from baseline but did not strongly correlate with the subjective epiphora scores. Transient mild ptosis and diplopia were experienced by two patients. The results from this small pilot study are encouraging, although larger, controlled trials are needed to assess the optimal dose of BTX-A, its long-term efficacy and safety, and the role of multiple injections.

  11. 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.

  12. A Quantitative and Qualitative Exploration of Photoaversion in Achromatopsia

    PubMed Central

    Aboshiha, Jonathan; Kumaran, Neruban; Kalitzeos, Angelos; Hogg, Chris; Rubin, Gary; Michaelides, Michel

    2017-01-01

    Purpose Photoaversion (PA) is a disabling and ubiquitous feature of achromatopsia (ACHM). We aimed to help define the characteristics of this important symptom, and present the first published assessment of its impact on patients' lives, as well as quantitative and qualitative PA assessments. Methods Molecularly confirmed ACHM subjects were assessed for PA using four tasks: structured survey of patient experience, novel quantitative subjective measurement of PA, visual acuities in differing ambient lighting, and objective palpebral aperture-related PA testing. Results Photoaversion in ACHM was found to be the most significant symptom for a substantial proportion (38%) of patients. A novel subjective PA measurement technique was developed and demonstrated fidelity with more invasive paradigms without exposing often very photosensitive patients to brighter light intensities used elsewhere. An objective PA measurement was also refined for use in trials, indicating that higher light intensities than previously published are likely to be needed. Monocular testing, as required for trials, was also validated for the first time. Conclusions This study offers new insights into PA in ACHM. It provides the first structured evidence of the great significance of this symptom to patients, suggesting that PA should be considered as an additional outcome measure in therapeutic trials. It also offers new insights into the characteristics of PA in ACHM, and describes both subjective and objective measures of PA that could be employed in clinical trials. PMID:28715587

  13. 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. © 2016 Wiley Periodicals, Inc.

  14. [Vertical retraction syndrome caused by anomalous orbital structures].

    PubMed

    Yang, Qiong; Jiao, Yong-hong; Man, Feng-yuan; Wang, Zhen-chang; Chang, Qing-lin; Lu, Wei; Wang, Jing-hui; Zhao, Kan-xing

    2011-11-01

    To described the clinical feature and MRI imaging of six children with vertical retraction syndrome. Six children with unilateral vertical retraction syndrome between 15 months and 8 years of age, mean age was (5.01 ± 1.27) years old. Strabismus examination included diopter, prism diopters, eye movement examination, binocular vision and fundus examination. Imaging of the ocular motor nerves at the brainstem was performed in 0.8 mm thickness image planes using 3D-FIESTA sequence, the orbits were imaged with FSE T1, T2WI using surface coils, and within 2.0 mm thick planes. Four children showed hypertropia, characterized by limited depression, a light retraction of the globe during downward gaze and eyelid lag. The MRI imaging showed anomalous orbital structure in the superonasal quadrant that between medial rectus and superior rectus or adjacent to the superior rectus. Two children showed intermittent exotropia, characterized by limited elevation, retraction of the globe and narrowing of the palpebral fissure during upward gaze. The MRI imaging showed anomalous orbital structure was present in the inferotemporal quadrant, one originate in inferior rectus and another close to the lateral rectus. Anomalous orbital structures are a main cause of vertical retraction syndrome. The presence of specific unusual eye movement and MRI imaging may assist in diagnosis. When the eyelid lag was found since the early age, anomalous orbital structures were implied.

  15. Mosaic variegated aneuploidy associated with a dysmorphic syndrome and mental handicap

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    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 brainmore » 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.« less

  16. [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. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  17. 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

  18. How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?

    PubMed

    Ravel, Aimé; Chouery, Eliane; Stora, Samantha; Jalkh, Nadine; Villard, Laurent; Temtamy, Samia; Mégarbané, André

    2011-04-01

    We describe a French young man with digital anomalies consisting of brachydactyly, F1-5 bilateral camptodactyly, interdigital webbing, F5 bilateral radial clinodactyly, and partial syndactyly of some fingers and toes. He had psychomotor retardation, short stature, umbilical hernia, a secundum atrial septal defect, seizures, hearing impairment, and dysmorphic features consisting of microcephaly, a prominent metopic ridge, upslanting palpebral fissures, synophrys, enophthalmia, large ears, a bulbous nose, a high palate, a smooth and short philtrum, a low hanging columella, a thin upper vermillion, an everted lower lip, prognathism, pectum excavatum, and supernumerary nipples. Osteotendinous reflexes were brisk. Mild nystagmus, myopia, and astigmatia were also noted. Total body X-rays showed short terminal phalanges of the hands, short middle phalanges of the index and little fingers, clinodactyly of the little fingers, short and fused proximal 4th and 5th metacarpals of the right hand, a short 5th metacarpal of the left hand, a fused left lunate-triquetrum, fused capitate-hamates, a prominent mandibula, and partial sacral agenesis. A thin posterior corpus callosum was apparent by MRI. Differential diagnoses for mainly the Rubinstein-Taybi syndrome, the Tsukahara syndrome, the Filippi syndrome, the Feingold syndrome, and the Tonoki syndrome are discussed, and the possibility that we might be reporting a novel entity is raised. © 2011 Wiley-Liss, Inc. Copyright © 2011 Wiley-Liss, Inc.

  19. PrimaTB STAT-PAK Assay, a Novel, Rapid Lateral-Flow Test for Tuberculosis in Nonhuman Primates▿

    PubMed Central

    Lyashchenko, Konstantin P.; Greenwald, Rena; Esfandiari, Javan; Greenwald, David; Nacy, Carol A.; Gibson, Susan; Didier, Peter J.; Washington, Marc; Szczerba, Peter; Motzel, Sherri; Handt, Larry; Pollock, John M.; McNair, James; Andersen, Peter; Langermans, Jan A. M.; Verreck, Frank; Ervin, Sean; Ervin, Frank; McCombs, Candace

    2007-01-01

    Tuberculosis (TB) is the most important zoonotic bacterial disease in nonhuman primates (NHP). The current diagnostic method, the intradermal palpebral tuberculin test, has serious shortcomings. We characterized antibody responses in NHP against Mycobacterium tuberculosis to identify immunodominant antigens and develop a rapid serodiagnostic test for TB. A total of 422 NHP were evaluated, including 243 rhesus (Macaca mulatta), 46 cynomolgus (Macaca fascicularis), and 133 African green (Cercopithecus aethiops sabaeus) monkeys at five collaborative centers. Of those, 50 monkeys of the three species were experimentally inoculated with M. tuberculosis. Antibody responses were monitored every 2 to 4 weeks for up to 8 months postinfection by MultiAntigen Print ImmunoAssay with a panel of 12 recombinant antigens. All of the infected monkeys produced antibodies at various levels and with different antigen recognition patterns. ESAT-6 and MPB83 were the most frequently recognized proteins during infection. A combination of selected antigens which detected antibodies in all of the infected monkeys was designed to develop the PrimaTB STAT-PAK assay by lateral-flow technology. Serological evaluation demonstrated high diagnostic sensitivity (90%) and specificity (99%). The highest rate of TB detection was achieved when the skin test was combined with the PrimaTB STAT-PAK kit. This novel immunoassay provides a simple, rapid, and accurate test for TB in NHP. PMID:17652522

  20. 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.

  1. 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

  2. PubMed Central

    Dupras, J; Vachon, P; Cuvelliez, S; Blais, D

    2001-01-01

    In this study, anesthesia levels obtained with tiletamine-zolazepam (TZ) and ketamine-midazolam (KM) with or without xylazine (X) were compared in rabbits. Reflexes (corneal, palpebral and withdrawal), blood parameters (PaO2, PaCO2, pH and ions HCO3-), cardiovascular function (heart rate and mean arterial blood pressure) and body temperature were evaluated before and after the injections of the anesthetic combination in the same rabbits (n = 10). With KM and TZ, no suppression of reflexes occurred. The body temperature and pH decreased and HCO3- increased similarly to KMX et TZX. Some physiological and blood parameters were less (PAM, PaCO2) and not (PaO2) affected comparatively to KMX et TZX. These protocols were of short duration of action and did not offer any anesthesia or analgesia. Therefore, their utilization should be restricted to short procedures where no painful manipulations are performed. Ketamine-midazolam-xylazine and tiletamine-zolazepam-xylazine on the other hand are indicated for interventions that require anesthesia. With these combinations, all reflexes were absent for 30-45 and 60-90 min following injections of KMX et TZX, respectively. However, these combinations induce cardiac depression, as well as a decrease of all measured blood parameters and body temperature and a reduction of PaO2. Supplementation with oxygen is recommended with the introduction of xylazine in the protocol. PMID:11424577

  3. A gene prenature ovarian failure associated with eyelid malformation maps to chromosomes 3q22-q23

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    NONE

    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 typemore » 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.« less

  4. Gene of a new X-linked syndrome with multiple congenital anomalies and severe mental retardation maps in Xp22-pter

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    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.more » 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.« less

  5. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

    PubMed

    Reijnders, Margot R F; Miller, Kerry A; Alvi, Mohsan; Goos, Jacqueline A C; Lees, Melissa M; de Burca, Anna; Henderson, Alex; Kraus, Alison; Mikat, Barbara; de Vries, Bert B A; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia A L; Wieczorek, Dagmar; Baralle, Diana; Blair, Edward M; Engels, Hartmut; Lüdecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs W E; Clayton-Smith, Jill; Chandler, Kate; Tatton-Brown, Katrina; Payne, Katelyn; Helbig, Katherine; Radtke, Kelly; Nugent, Kimberly M; Cremer, Kirsten; Strom, Tim M; Bird, Lynne M; Sinnema, Margje; Bitner-Glindzicz, Maria; van Dooren, Marieke F; Alders, Marielle; Koopmans, Marije; Brick, Lauren; Kozenko, Mariya; Harline, Megan L; Klaassens, Merel; Steinraths, Michelle; Cooper, Nicola S; Edery, Patrick; Yap, Patrick; Terhal, Paulien A; van der Spek, Peter J; Lakeman, Phillis; Taylor, Rachel L; Littlejohn, Rebecca O; Pfundt, Rolph; Mercimek-Andrews, Saadet; Stegmann, Alexander P A; Kant, Sarina G; McLean, Scott; Joss, Shelagh; Swagemakers, Sigrid M A; Douzgou, Sofia; Wall, Steven A; Küry, Sébastien; Calpena, Eduardo; Koelling, Nils; McGowan, Simon J; Twigg, Stephen R F; Mathijssen, Irene M J; Nellaker, Christoffer; Brunner, Han G; Wilkie, Andrew O M

    2018-06-07

    Next-generation sequencing is a powerful tool for the discovery of genes related to neurodevelopmental disorders (NDDs). Here, we report the identification of a distinct syndrome due to de novo or inherited heterozygous mutations in Tousled-like kinase 2 (TLK2) in 38 unrelated individuals and two affected mothers, using whole-exome and whole-genome sequencing technologies, matchmaker databases, and international collaborations. Affected individuals had a consistent phenotype, characterized by mild-borderline neurodevelopmental delay (86%), behavioral disorders (68%), severe gastro-intestinal problems (63%), and facial dysmorphism including blepharophimosis (82%), telecanthus (74%), prominent nasal bridge (68%), broad nasal tip (66%), thin vermilion of the upper lip (62%), and upslanting palpebral fissures (55%). Analysis of cell lines from three affected individuals showed that mutations act through a loss-of-function mechanism in at least two case subjects. Genotype-phenotype analysis and comparison of computationally modeled faces showed that phenotypes of these and other individuals with loss-of-function variants significantly overlapped with phenotypes of individuals with other variant types (missense and C-terminal truncating). This suggests that haploinsufficiency of TLK2 is the most likely underlying disease mechanism, leading to a consistent neurodevelopmental phenotype. This work illustrates the power of international data sharing, by the identification of 40 individuals from 26 different centers in 7 different countries, allowing the identification, clinical delineation, and genotype-phenotype evaluation of a distinct NDD caused by mutations in TLK2. Copyright © 2018 The Authors. Published by Elsevier Inc. All rights reserved.

  6. Protracted Hypofractionated Radiotherapy for Graves' Ophthalmopathy: A Pilot Study of Clinical and Radiologic Response

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Casimiro de Deus Cardoso, Cejana; Giordani, Adelmo Jose; Borri Wolosker, Angela Maria

    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 symptomsmore » 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.« less

  7. Effectiveness of surgical treatment in chronic migraine.

    PubMed

    Amaya-Blas, Francisco Javier; Mecott, Gabriel A; Marfil-Rivera, Alejandro; Tamayo-Esquivel, María de Lourdes; García-Pérez, Mauricio Manuel; Chacón-Moreno, Hernán; Pérez-Porras, Sergio; Coutiño, Rosa; Castro-Góvea, Yanko

    2018-01-01

    Migraine affects more than 35 million people in the United States of America, and 10% of the population in the world. The purpose of this study was to evaluate the effectiveness of surgical treatment in chronic migraine with frontal or occipital trigger areas. We designed a pilot, proof of concept, and prospective study to analyze the effectiveness of surgical release of trigger nerves in severe frontal or occipital chronic migraines. The study was approved by the Ethics and Investigation Committee of Hospital Universitario Dr. José Eleuterio González (Monterrey, N.L., Mexico). We included patients diagnosed with chronic migraine by the neurology service of Hospital Universitario Dr. José Eleuterio González that attended our consult from March to December 2012. The patients were assessed by the MIDAS questionnaire and the diagnosis confirmed by injecting 2% lidocaine in the trigger sites. We realized a superior palpebral approach in frontal migraines to resection the glabellar muscles and an occipital approach to free the greater occipital nerve bilaterally. We evaluated complete and partial clinical response measuring the frequency, intensity, and duration of migraine episodes. We included three patients with Stage IV (severe incapacitating) frontal or occipital chronic migraines. Two were occipital trigger sites and one frontal. We obtained complete clinical response in two patients and a partial response in one. Pain intensity decreased in all patients. Surgical treatment is effective in Stage IV (severe incapacitating) frontal or occipital trigger chronic migraines. Copyright: © 2018 Permanyer.

  8. Gene mapping in an anophthalmic pedigree of a consanguineous Pakistani family opened new horizons for research

    PubMed Central

    Ajmal, M; Zafar, S; Hameed, A

    2016-01-01

    ABSTRACT Clinical anophthalmia is a rare inherited disease of the eye and phenotype refers to the absence of ocular tissue in the orbit of eye. Patients may have unilateral or bilateral anophthalmia, and generally have short palpebral fissures and small orbits. Anophthalmia may be isolated or associated with a broader syndrome and may have genetic or environmental causes. However, genetic cause has been defined in only a small proportion of cases, therefore, a consanguineous Pakistani family of the Pashtoon ethnic group, with isolated clinical anophthalmia was investigated using linkage mapping. A family pedigree was created to trace the possible mode of inheritance of the disease. Blood samples were collected from affected as well as normal members of this family, and screened for disease-associated mutations. This family was analyzed for linkage to all the known loci of clinical anophthalmia, using microsatellite short tandem repeat (STR) markers. Direct sequencing was performed to find out disease-associated mutations in the candidate gene. This family with isolated clinical anophthalmia, was mapped to the SOX2 gene that is located at chromosome 3q26.3-q27. However, on exonic and regulatory regions mutation screening of the SOX2 gene, the disease-associated mutation was not identified. It showed that another gene responsible for development of the eye might be present at chromosome 3q26.3-q27 and needs to be identified and screened for the disease-associated mutation in this family. PMID:27785411

  9. Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome

    PubMed Central

    2011-01-01

    Background Treacher Collins syndrome (TCS) is one of the most severe autosomal dominant congenital disorders of craniofacial development and shows variable phenotypic expression. TCS is extremely rare, occurring with an incidence of 1 in 50.000 live births. The TCS distinguishing characteristics are represented by down slanting palpebral fissures, coloboma of the eyelid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present. TCS results from mutations in the TCOF1 gene located on chromosome 5, which encodes a serine/alanine-rich nucleolar phospho-protein called Treacle. However, alterations in the TCOF1 gene have been implicated in only 81-93% of TCS cases. Methods In this study, the entire coding regions of the TCOF1 gene, including newly described exons 6A and 16A, were sequenced in 46 unrelated subjects suspected of TCS clinical indication. Results Fifteen mutations were reported, including twelve novel and three already described in 14 sporadic patients and in 3 familial cases. Moreover, seven novel polymorphisms were also described. Most of the mutations characterised were microdeletions spanning one or more nucleotides, in addition to an insertion of one nucleotide in exon 18 and a stop mutation. The deletions and the insertion described cause a premature termination of translation, resulting in a truncated protein. Conclusion This study confirms that almost all the TCOF1 pathogenic mutations fall in the coding region and lead to an aberrant protein. PMID:21951868

  10. Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome.

    PubMed

    Conte, Chiara; D'Apice, Maria Rosaria; Rinaldi, Fabrizio; Gambardella, Stefano; Sangiuolo, Federica; Novelli, Giuseppe

    2011-09-27

    Treacher Collins syndrome (TCS) is one of the most severe autosomal dominant congenital disorders of craniofacial development and shows variable phenotypic expression. TCS is extremely rare, occurring with an incidence of 1 in 50.000 live births. The TCS distinguishing characteristics are represented by down slanting palpebral fissures, coloboma of the eyelid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present. TCS results from mutations in the TCOF1 gene located on chromosome 5, which encodes a serine/alanine-rich nucleolar phospho-protein called Treacle. However, alterations in the TCOF1 gene have been implicated in only 81-93% of TCS cases. In this study, the entire coding regions of the TCOF1 gene, including newly described exons 6A and 16A, were sequenced in 46 unrelated subjects suspected of TCS clinical indication. Fifteen mutations were reported, including twelve novel and three already described in 14 sporadic patients and in 3 familial cases. Moreover, seven novel polymorphisms were also described. Most of the mutations characterised were microdeletions spanning one or more nucleotides, in addition to an insertion of one nucleotide in exon 18 and a stop mutation. The deletions and the insertion described cause a premature termination of translation, resulting in a truncated protein. This study confirms that almost all the TCOF1 pathogenic mutations fall in the coding region and lead to an aberrant protein.

  11. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

    PubMed

    Vincent, Marie; Geneviève, David; Ostertag, Agnès; Marlin, Sandrine; Lacombe, Didier; Martin-Coignard, Dominique; Coubes, Christine; David, Albert; Lyonnet, Stanislas; Vilain, Catheline; Dieux-Coeslier, Anne; Manouvrier, Sylvie; Isidor, Bertrand; Jacquemont, Marie-Line; Julia, Sophie; Layet, Valérie; Naudion, Sophie; Odent, Sylvie; Pasquier, Laurent; Pelras, Sybille; Philip, Nicole; Pierquin, Geneviève; Prieur, Fabienne; Aboussair, Nisrine; Attie-Bitach, Tania; Baujat, Geneviève; Blanchet, Patricia; Blanchet, Catherine; Dollfus, Hélène; Doray, Bérénice; Schaefer, Elise; Edery, Patrick; Giuliano, Fabienne; Goldenberg, Alice; Goizet, Cyril; Guichet, Agnès; Herlin, Christian; Lambert, Laetitia; Leheup, Bruno; Martinovic, Jelena; Mercier, Sandra; Mignot, Cyril; Moutard, Marie-Laure; Perez, Marie-José; Pinson, Lucile; Puechberty, Jacques; Willems, Marjolaine; Randrianaivo, Hanitra; Szakszon, Kateline; Szaskon, Kateline; Toutain, Annick; Verloes, Alain; Vigneron, Jacqueline; Sanchez, Elodie; Sarda, Pierre; Laplanche, Jean-Louis; Collet, Corinne

    2016-01-01

    Treacher Collins/Franceschetti syndrome (TCS; OMIM 154500) is a disorder of craniofacial development belonging to the heterogeneous group of mandibulofacial dysostoses. TCS is classically characterized by bilateral mandibular and malar hypoplasia, downward-slanting palpebral fissures, and microtia. To date, three genes have been identified in TCS:,TCOF1, POLR1D, and POLR1C. We report a clinical and extensive molecular study, including TCOF1, POLR1D, POLR1C, and EFTUD2 genes, in a series of 146 patients with TCS. Phenotype-genotype correlations were investigated for 19 clinical features, between TCOF1 and POLR1D, and the type of mutation or its localization in the TCOF1 gene. We identified 92/146 patients (63%) with a molecular anomaly within TCOF1, 9/146 (6%) within POLR1D, and none within POLR1C. Among the atypical negative patients (with intellectual disability and/or microcephaly), we identified four patients carrying a mutation in EFTUD2 and two patients with 5q32 deletion encompassing TCOF1 and CAMK2A in particular. Congenital cardiac defects occurred more frequently among patients with TCOF1 mutation (7/92, 8%) than reported in the literature. Even though TCOF1 and POLR1D were associated with extreme clinical variability, we found no phenotype-genotype correlation. In cases with a typical phenotype of TCS, 6/146 (4%) remained with an unidentified molecular defect.

  12. Visual defects in Nepalese children with Down syndrome.

    PubMed

    Paudel, Nabin; Leat, Susan J; Adhikari, Prakash; Woodhouse, J Margaret; Shrestha, Jyoti Baba

    2010-03-01

    Down syndrome (DS) is a common chromosomal anomaly. People with this syndrome have recognisable physical characteristics and limited intellectual abilities. The aim of this study was to determine visual defects, especially refractive error and binocular anomalies, in a sample of Nepalese children with DS. Thirty-six children with DS (19 boys and 17 girls) from the Kathmandu valley, aged from four months to 18 years, underwent detailed optometric examination. Cycloplegic refraction was performed on all subjects. Vision on presentation of all the children was assessed with preferential looking cards, the Kay picture cards, the Bailey-Lovie logMAR chart or the Snellen chart. Binocular function was assessed with cover test, Hirschberg or Bruckner test. Cycloplegic refraction of the children revealed that 80 per cent of the children had significant refractive error. Most of them had hyperopia (55 per cent), followed by astigmatism (44 per cent), myopia (25 per cent) and anisometropia (19 per cent). Only two (5.6 per cent) children were strabismic and both of them were alternating esotropes. Nystagmus was present in 10 (28 per cent). Other ocular findings were upward slanting palpebral fissures, blepharitis, congenital nasolacrimal duct obstruction, blepharoconjunctivitis, chalazion and lenticular opacities. Nepalese children with DS have a high prevalence of refractive error and nystagmus. Regular eye examinations are indicated for these children to enable early diagnosis and appropriate management of ocular disorders to improve their vision and quality of life.

  13. The development of the eyelids. Part I. External features.

    PubMed Central

    Pearson, A A

    1980-01-01

    The sequence of developmental events leading to the formation of the eyelids is described in staged human embryos. By the end of the fourth week the optic vesicle lies close to the surface ectoderm. The surface ectoderm overlying the optic vesicle, in response to this contact, has thickened to form the lense placode (Stage 13). A few days later (about 32 days, Stage 14) the lens placode is indented by the lens pit. A day or two later (about 33 days, Stage 15) the lens pit is closed: however, the lens vesicle and optic cup lie close to the surface ectoderm and appear to press against the surface. Prior to the development of the eyelids, one small sulcus or groove forms above the eye (eyelid groove) and another below it (stage 16, 37 days). As these grooves deepen, in Stages 17--19, eyelid folds develop, first below, and then above, the eye. In Stages 19--22 the eyelid folds develop into the eyelids and cover more of the eye as the palpebral fissure takes shape. The upper and the lower eyelids meet at the outer canthus in Stage 19. The inner canthus is established a few days later in Stage 20. Closure of the eyelids is complete in Stage 23. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 Fig. 6 Fig. 7 Fig. 8 Fig. 9 Fig. 10 Fig. 11 Fig. 12 Fig. 13 Fig. 14 Fig. 15 Fig. 16 PMID:7364662

  14. Bites by coral snakes (Micrurus spp.) in Campinas, State of São Paulo, Southeastern Brazil.

    PubMed

    Bucaretchi, Fábio; Hyslop, Stephen; Vieira, Ronan José; Toledo, Adriana Safioli; Madureira, Paulo Roberto; de Capitani, Eduardo Mello

    2006-01-01

    Coral snakes (Micrurus spp.) are the main representatives of the Elapidae in South America. However, bites by these snakes are uncommon. We retrospectively reviewed the data from 11 individuals bitten by coral snakes over a 20-year period; four were confirmed (snake brought for identification) and seven were highly suspected (neuromuscular manifestations) cases of elapid envenoming. The cases were classified as dry-bite (n = 1, caused by M. lemniscatus; did not receive antivenom), mild (n = 2, local manifestations with no acute myasthenic syndrome; M. frontalis and Micrurus spp.), moderate (n = 5, mild myasthenia) or severe (n = 3, important myasthenia; one of them caused by M. frontalis). The main clinical features upon admission were paresthesia (local, n = 9; generalized, n = 2), local pain (n = 8), palpebral ptosis (n = 8), weakness (n = 4) and inability to stand up (n = 3). No patient developed respiratory failure. Antivenom was used in ten cases, with mild early reactions occurring in three. An anticholinesterase drug was administered in the three severe cases, with a good response in two. No deaths were observed. Despite the high toxicity of coral snake venoms, the prognosis following envenoming is good. In serious bites by M. frontalis or M. lemniscatus, the venom of which acts postsynaptically, anticholinesterases may be useful as an ancillary measure if antivenom is unavailable, if there is a delay in obtaining a sufficient amount, or in those patients given the highest recommended doses of antivenom without improvement of the paralysis or with delayed recovery.

  15. 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

  16. Aesthetic Total Reconstruction of Lower Eyelid Using Scapha Cartilage Graft on a Vascularized Propeller Flap.

    PubMed

    Uemura, Tetsuji; Watanabe, Hidekata; Masumoto, Kazuyuki; Kikuchi, Mamoru; Satake, Yoshiyasu; Yanai, Tetsu; Harada, Yoshimi; Ishihara, Yasuhiro; Yasuta, Masato

    2016-04-01

    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. 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. 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. 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.

  17. Immediate reaction to lidocaine with periorbital edema during upper blepharoplasty.

    PubMed

    Presman, Benjamin; Vindigni, Vincenzo; Tocco-Tussardi, Ilaria

    2016-01-01

    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. 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. 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. 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. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.

  18. The Sihler staining study of the infraorbital nerve and its clinical complication.

    PubMed

    Yang, Hun-Mu; Won, Sung-Yoon; Lee, Young-Il; Kim, Hee-Jin; Hu, Kyung-Seok

    2014-11-01

    The infraorbital nerve (ION) is a cardinal cutaneous nerve that provides general sensation to the mid face. Its twigs are vulnerable to iatrogenic damage during medical and dental manipulations. The aims of this study were to elucidate the distribution pattern of the ION and thus help to prevent nerve damage during medical procedures and to enable accurate prognostic evaluation where complications do occur. This was achieved by treating 7 human hemifaces with the Sihler modified staining protocol, which enables clear visualization of the course and distribution of nerves without the accidental displacement of these structures that can occur during classic dissection. The twigs of the ION can be classified into the usual 5 groups: inferior palpebral, innervating the lower eyelid in a fan-shaped area; external and internal nasal, reaching the nosewing and philtrum including the septal area between the nostrils, respectively; as well as medial and lateral superior labial, supplying the superior labial area from the midline to the mouth corner. Of particular note, the superior labial twigs fully innervated the infraorbital triangle formed by the infraorbital foramen, the most lateral point of the nosewing, and the mouth corner. In the superior 3-quarter area, the ION twigs made anastomoses with the buccal branches of the facial nerve, forming an infraorbital nervous plexus. The infraorbital triangle may be considered a dangerous zone with respect to the risk for iatrogenic complications associated with the various medical interventions such as implant placement.

  19. 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

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    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 heterogeneitymore » 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.« less

  20. TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion.

    PubMed

    Palumbo, Orazio; Fichera, Marco; Palumbo, Pietro; Rizzo, Renata; Mazzolla, Elisabetta; Cocuzza, Donatella Maria; Carella, Massimo; Mattina, Teresa

    2014-03-01

    Interstitial deletion of 2q24.2 is a rarely described cytogenetic aberration in patients with intellectual disability (ID). Previously reported genotype-phenotype correlation identified a minimum deleted region of 2.65 Mb including 15 genes. Recently, a patient with a de novo 2q24.2 microdeletion of 0.4 Mb encompassing only three genes was described. However, the precise relationship between most deleted genes and the clinical features remains unclear. Here we describe a 12-year-old male patient diagnosed with growth retardation and ID. He also showed microcephaly, right palpebral ptosis, scapular winging, and pectus excavatum. Single nucleotide polymorphisms (SNP) array analysis showed a de novo interstitial deletion of 0.122 Mb at 2q24.2 region harboring only TBR1 (T-box, brain, 1; OMIM: 604616), which encodes a T-box family transcription factor expressed in post-mitotic projection neurons and functionally significant in embryologic corticogenesis. This is the first case of a deletion at 2q24.2 involving only TBR1. This finding narrows the smallest region of overlap (SRO) for deletions in this region and strengthens the previously suggested hypothesis that this gene is a strong candidate for the ID phenotype. The identification of TBR1 as candidate for ID encourages further molecular studies to identify novel mutations to understand the pathogenic effects of its haploinsufficiency. Finally, this report provides a review on 10 2q24.2 microdeletion patients. © 2014 Wiley Periodicals, Inc.

  1. Occurrence of Staphylococcal Ocular Infections of Food Producing Animals in Nsukka Southeast, Nigeria

    PubMed Central

    Udegbunam, Sunday Ositadinma; Udegbunam, Rita Ijeoma; Anyanwu, Madubuike Umunna

    2014-01-01

    Staphylococcal ocular infections of food animals have been somewhat under diagnosed probably due to the ubiquitous nature of staphylococcal organisms. This study was undertaken to determine the occurrence of staphylococcal ocular infections of food producing animals in Nsukka Southeast, Nigeria, and to determine the antibiogram of the isolated staphylococci. A total of 5,635 food producing animals were externally examined for signs of clinical ocular conditions. Animals that showed clinical eye lesions were further examined using pen light to assess the entire globe and the pupillary reflex. Blindness was assessed using menace blink reflex, palpebral reflex and obstacle methods. Isolation and identification of staphylococcal isolates from ocular swabs were done by standard methods. Antibiogram of the isolates was determined by disc diffusion method. Sixty-three (1.1%) of the examined animals showed signs of ocular condition. Thirty-one (49.2%) of the cultured swabs yielded Staphylococcus aureus (S. aureus). Isolation rates from different animal species were caprine (60%), ovine (33.3%), bovine (12.5%), and porcine (0%). Resistance of the isolates was 100% to ampicillin/cloxacillin, 90% to tetracycline, 80% to streptomycin, 71% to chloramphenicol, 20% to erythromycin, 16% to gentamicin, and 0% to ciprofloxacin and norfloxacin. Twenty-five (81%) of the isolates were multi-drug resistant. This study has shown that antibiotic-resistant staphylococci are associated with a sizeable percentage of ocular infections of food producing animals and should be considered during diagnosis and treatment. PMID:24693461

  2. Characterization of the mucocutaneous junction of the human eyelid margin and meibomian glands with different biomarkers.

    PubMed

    Tektaş, Ozan Yüksel; Yadav, Ajay; Garreis, Fabian; Schlötzer-Schrehardt, Ursula; Schicht, Martin; Hampel, Ulrike; Bräuer, Lars; Paulsen, Friedrich

    2012-09-01

    To investigate the morphology of the human eyelid margin and the presence of different cytokeratins, mucins and stem cell markers within the skin epithelium, mucocutaneous junction (MCJ) and palpebral conjunctiva. Eyelids of body donors were investigated histologically and ultrastructurally as well as by immunohistochemical methods using antibodies to cytokeratins 1, 4, 7, 8, 10, 13, 14, 15, and 19; mucins MUC1, MUC4, and MUC5AC and potential stem cell markers K15, BCRP/ABCG2, integrin β1, and N-cadherin. The expression pattern of cytokeratins, mucins and stem cell markers varied across the different epithelia of the human eyelid. Within the MCJ, CK7, 15 and 19 were absent, whereas the epithelium reacted positive to antibodies to CK1, 4, 8, 10, 13 and 14. Reactivity was also observed for MUC1 and MUC4, but not for MUC5AC. No reactivity was determined for K15, BCRP/ABCG2 and integrin β1 in the area of the MCJ epithelium but a strong reactivity was present for N-cadherin. The present immunohistochemical findings lead to a better characterization of the MCJ. Additionally, the knowledge of distribution of biomarkers like cytokeratins, mucins and stem cells can be useful in the investigation of MCJ disturbances which occur in several disorders of the meibomian glands and the lid epithelium in the course of dry eye syndrome and especially meibomian gland dysfunction. Copyright © 2012 Elsevier GmbH. All rights reserved.

  3. The cardiofaciocutaneous syndrome

    PubMed Central

    Roberts, A; Allanson, J; Jadico, S K; Kavamura, M I; Noonan, J; Opitz, J M; Young, T; Neri, G

    2006-01-01

    The cardiofaciocutaneous (CFC) syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. It is characterised by failure to thrive, relative macrocephaly, a distinctive face with prominent forehead, bitemporal constriction, absence of eyebrows, hypertelorism, downward‐slanting palpebral fissures often with epicanthic folds, depressed nasal root and a bulbous tip of the nose. The cutaneous involvement consists of dry, hyperkeratotic, scaly skin, sparse and curly hair, and cavernous haemangiomata. Most patients have a congenital heart defect, most commonly pulmonic stenosis and hypertrophic cardiomyopathy. The developmental delay usually is moderate to severe. The syndrome is caused by gain‐of‐function mutations in four different genes BRAF, KRAS, mitogen‐activated protein/extracellular signal‐regulated kinase MEK1 and MEK2, all belonging to the same RAS–extracellular signal‐regulated kinase (ERK) pathway that regulates cell differentiation, proliferation and apoptosis. The CFC syndrome is a member of a family of syndromes that includes the Noonan and Costello syndromes, presenting with phenotypic similarities. Noonan syndrome is caused by mutations in the protein tyrosine phosphatase SHP‐2 gene (PTPN11), with a few people having a mutation in KRAS. Costello syndrome is caused by mutations in HRAS. The protein products of these genes also belong to the RAS–ERK pathway. Thus, the clinical overlap of these three conditions, which often poses a problem of differential diagnosis, is explained by their pathogenetic relatedness. PMID:16825433

  4. Limited Azithromycin Localization to Rabbit Meibomian Glands Revealed by LC-MS-Based Bioanalysis and DESI Imaging.

    PubMed

    Asano, Nagayoshi; Wiseman, Justin Michael; Tsuji, Fumio; Kawazu, Kouichi

    2017-01-01

    Meibomian gland dysfunction (MGD) is the leading cause of dry eye, and although it affects approximately 4% of the population, treatment options remain limited. Topical azithromycin is one of the most promising pharmacological agents because of its multiple mechanisms of action and long sustainability. Azithromycin is frequently used as an off-label medication in the U.S. However, although azithromycin is presumed to act directly on meibomian gland cells, the mechanisms of action that contribute to its clinical efficacy remain unclear because no studies using a pharmacokinetic approach have been performed. Therefore, we aimed to clarify whether topical azithromycin reaches the meibomian glands sufficiently to generate a biological effect. We measured azithromycin concentrations in rabbit meibomian glands collected using a recently developed method. Moreover, we also visualized the azithromycin micro-distribution using desorption electrospray ionization (DESI) imaging. Azithromycin concentration in the meibomian glands reached only 0.8 µg/g tissue following a single application of a 1% azithromycin ophthalmic solution and was 1000-fold lower than the concentration in conjunctival epithelium. Similarly, no signal was observed in the meibomian glands on DESI images. Our results clearly demonstrated that topical azithromycin had limited access to the meibomian glands and was predominantly distributed in ocular surface tissues such as the palpebral conjunctiva and lid margins. These findings provide new insight into the clinical responses to topical azithromycin therapy and will aid in the further development of effective drugs with more suitable pharmacokinetic properties.

  5. 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.

  6. 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

  7. Contact dermatitis.

    PubMed

    Gurwood, A S; Altenderfer, D S

    2001-01-01

    Anatomically, the eyelid can be divided microscopically into (1) skin, which is made up of epidermis and dermis; (2) submucosa (3) muscular layer; (4) submuscular layer (dense connective tissue); (5) fibrous layer; and (6) palpebral conjunctiva. The thin nature of the eyelid makes it susceptible to inflammation resulting from allergy. Minimum levels of irritants contacting the adnexal area can penetrate the skin to initiate the allergic cascade. Allergic reactions that involve the eye may begin via contact to the skin, but often involve the conjunctiva. Eczema is the general term that describes the superficial inflammatory process involving the epidermis. Contact eczema is characterized by varying elements of epidermal erythema, papules, and vesicles. Allergic dermatoconjunctivitis connotes involvement of both the skin and conjunctiva. A 24-year-old man came to the clinic with a red, swollen left eye. Based on the history, the constellation of signs and symptoms (lack of diffuse or focal pain, presence of periorbital and conjunctival edema, absence of fever), and failed resolution after treatment with injectable antibiotics, the diagnosis of type IV delayed hypersensitivity reaction secondary to toxic/chemical exposure was made. Speedy resolution was accomplished using a sequenced therapy, which included oral antihistamines, topical cycloplegics, topical antibiotics, topical steroids, and palliative therapies. Optometrists should be familiar with the signs and symptoms of contact eczema and allergic dermatoconjunctivitis. Treatment includes management of the skin and adnexae, as well as the ocular manifestations.

  8. [Vemurafenib-induced toxic epidermal necrolysis].

    PubMed

    Wantz, M; Spanoudi-Kitrimi, I; Lasek, A; Lebas, D; Quinchon, J-F; Modiano, P

    2014-03-01

    Herein we report the first case of toxic epidermal necrolysis (TEN) occurring with use of vemurafenib. A 75-year-old female patient was being treated with vemurafenib for stage IV melanoma with BRAF V600E mutation. She suddenly presented fever, diffuse pruriginous maculopapular erythema, palpebral edema, palmar bulla, conjunctivitis, cheilitis and mucosal ulceration. The condition progressed towards detachment affecting 50% of the skin area. Cutaneous biopsy revealed lichenoid dermatosis, chiefly vesicular with numerous eosinophils. Direct immunofluorescence (IFD) was negative. Vemurafenib was the only drug to which the reaction was ascribable and we concluded on vemurafenib-induced TEN. To our knowledge, this is the first reported case of vemurafenib-induced TEN, but this adverse effect, although already described in the BRIM-3 study, appears rare in clinical practice. Other severe skin reactions have been described in the literature. These include a case of Stevens-Johnson syndrome in a female patient treated with vemurafenib and previously receiving ipilimumab. A more common occurrence is cutaneous reactions involving efflorescence of benign hyperkeratotic lesions, occasionally accompanied by authentic epidermal carcinoma or keratoacanthoma, and requiring regular dermatological monitoring of patients treated with vemurafenib. If maculopapular exanthema occurs under vemurafenib, continuation of this treatment should be reassessed since the risk of progression to a more serious condition such as TEN, as seen in the present case, cannot be ruled out. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  9. Therapeutic nursing care: transition in sexuality of the elderly caregiving spouse.

    PubMed

    Lima, Claudia Feio da Maia; Caldas, Célia Pereira; Santos, Iraci Dos; Trotte, Liana Amorim Correa; Silva, Bárbara Martins Corrêa da

    2017-01-01

    To understand the transitions experienced, and the conditions and expected response patterns to changes in sexuality of the spouse-caregiver of the elderly, during progression of the dementia process. A qualitative research study, conducted at the neurogeriatric clinic between May of 2014 and May of 2015. An intensive, individual interview was administered to 12 elderly caregivers. Thematic content analysis was applied, using the theoretical model of Transition Theory. Seven categories emerged, involving relationship and conjugal sexuality; disease repercussions; care and professional approach; attitudes, beliefs and social imagery of sexuality and care; family relationship and redefining of sexuality. Family development and marital life, the aspects of formation and development of sexuality, the specifics that involved living and caring for the other were understood, with successive events and changes influenced by old age, dementia, beliefs and social imagery. compreender as transições vivenciadas, suas condições e os padrões de resposta esperados a mudanças na sexualidade do cônjuge-cuidador do idoso em processo demencial. pesquisa de abordagem qualitativa, realizada no ambulatório de neurogeriatria, entre maio de 2014 e maio de 2015. Aplicou-se a entrevista individual e intensiva a 12 cônjuges-cuidadores de idosos. Fez-se a análise de conteúdo temática, com aplicação do modelo teórico da Teoria das Transições. emergiram sete categorias, que envolveram relação e sexualidade conjugal; repercussões da doença; o cuidado e a abordagem profissional; atitudes, crenças e imaginário social de sexualidade e cuidado; relação familiar e ressignificação de sexualidade. compreendeu-se a construção de vida familiar e conjugal; os aspectos de formação e desenvolvimento da sexualidade; as especificidades que envolvem viver e cuidar do outro, com sucessivos acontecimentos e mudanças influenciados pela velhice, por processo demencial, crenças e

  10. Análise sobre o Conhecimento de um Grupo de Alunos do Ensino Médio da Rede Estadual de São Paulo sobre Termos e Fenômenos Astronômicos do Cotidiano

    NASA Astrophysics Data System (ADS)

    de Oliveira, E. F.; Voelzke, M. R.; Amaral, L. H.

    2007-08-01

    Embora os Parâmetros Curriculares Nacionais do Ensino Médio (PCN-EM) e as orientações complementares a esses Parâmetros (PCN+) apontem a importância de uma abordagem significativa de conceitos relacionados à astronomia nas aulas de Física, muitos estudantes terminam o Ensino Médio (EM) sem compreender a razão de certos acontecimentos de origem celeste, ainda que estes façam parte de seu cotidiano. Este trabalho tem por objetivo analisar os conhecimentos básicos em astronomia dos alunos de EM da escola estadual Batista Renzi, bem como investigar os meios através dos quais estes conhecimentos foram adquiridos. Para tanto foi elaborado um questionário de múltipla escolha aplicado a 310 alunos distribuídos entre as três séries do EM dos períodos matutino e noturno. Dessa forma, observou-se que apenas 34,5% relacionaram as estações do ano à inclinação do eixo de rotação da Terra, 21,3% indicaram a influência gravitacional da Lua e do Sol como responsáveis pelo fenômeno das marés, 24,5% indicaram corretamente quais são os objetos celestes mais próximos da Terra, 36,1% identificaram ano-luz como uma medida de distância e 34,2% reconheceram uma estrela cadente como meteoro. Em contrapartida, 67,1% compreendiam a sucessão entre dia e noite, 73,9% identificaram o Sol como estrela e 52,3% relacionaram o Big Bang à origem do Universo. Além disso, foram comparadas as respostas de alunos de diferentes séries e períodos, observando-se, dentre outras coisas, que os estudantes do terceiro ano apresentam um percentual de acertos semelhante ao dos alunos do primeiro, caracterizando que a abordagem de tópicos relacionados à astronomia no EM não tem contribuído para uma maior compreensão dos fenômenos e conceitos.

  11. Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: novel association with Pectus carinatum in a molecularly confirmed case and review of the fetal phenotype.

    PubMed

    Konstantinidou, Anastasia E; Tasoulas, Jason; Kallipolitis, Georgios; Gasparatos, Spyros; Velissariou, Voula; Paraskevakou, Helen

    2013-12-01

    Treacher Collins syndrome is the most common mandibulofacial dysostosis of autosomal dominant or, rarely, recessive inheritance. Affected fetuses may be identified by prenatal ultrasound or diagnosed at autopsy in case of perinatal death or pregnancy termination. We describe the ultrasonographic, autopsy, and molecular findings in a 25-week-gestation affected fetus, and review the clinical, prenatal, and postmortem findings in 15 previously reported fetal and perinatal cases. A nearly complete spectrum of the typical facial characteristics can be present by the early second trimester of gestation, including subtle defects such as lower eyelid colobomas. Mandibular hypoplasia and bilateral auricle defects were constant findings in the affected fetal population. Downslanting palpebral fissures were the second more common feature, followed by midface hypoplasia, polyhydramnios, and ocular defects. Association with Pierre Robin sequence was common (38%) in the reviewed series. Previously unreported pectus carinatum was noted in our case bearing a heterozygous TCOF1 mutation. Other unique reported findings include salivary gland hyperplasia, single umbilical artery, and tracheo-esophageal fistula, all in molecularly unconfirmed cases. Treacher Collins syndrome can be prenatally detected by ultrasound and should be included in the wide range of genetic syndromes that can be diagnosed at perinatal autopsy. Affected fetuses tend to have a more severe phenotype than living patients. The reported association of Treacher Collins syndrome type 1 with pectus carinatum expands the phenotype, provides information on genotype-phenotype correlation, and suggests possible pathogenetic interactions between neural crest cell disorders and the formation of the sternum that merit investigation. Copyright © 2013 Wiley Periodicals, Inc.

  12. Comparison of botulinum toxin-A injection in lacrimal gland and conjunctivodacryocystorhinostomy for treatment of epiphora due to proximal lacrimal system obstruction

    PubMed Central

    Kaynak, P; Karabulut, G O; Ozturker, C; Fazil, K; Arat, Y O; Perente, I; Akar, S; Yilmaz, O F; Demirok, A

    2016-01-01

    Purpose To investigate and compare the efficacy of botulinum toxin-A injection in the lacrimal gland and conjunctivodacryocystorhinostomy surgery for the treatment of epiphora caused by proximal lacrimal system obstruction. Methods Charts of the patients with proximal canalicular obstruction who had undergone conjunctivodacryocystorhinostomy with permanent tube insertion (18 patients, group 1) or 4 units of botulinum toxin-A injection in the palpebral lobe of the lacrimal gland (20 patients, group 2) were reviewed retrospectively. The upper lacrimal system obstruction was diagnosed by lacrimal system irrigation. Schirmer-1 test and Munk epiphora grading for evaluation of epiphora were performed before the interventions and on tenth day, first, third, and sixth months after the interventions. Results Improvement of epiphora was statistically significant at all visits when compared with values before injection (P<0.001) in both of groups. When two techniques were compared, difference in degree of epiphora before and after intervention was not statistically significant (P<0.05). In group 2, none of the patients had punctate epitheliopathy, although there was a significant decrease in Schirmer test results (P<0.001, paired t-test). In group 1, 9 cases (50%) had tube dislocation, 4 cases (22.2%) had obstruction, and granuloma formation. Five cases (25%) had ptosis in group 2. Conclusion  Conjunctivodacryocystorhinostomy requires surgical experience, special postoperative care, and multiple revisions. As botulinum toxin-A injection in the lacrimal gland is technically easy, less-invasive, safe, with reversible effects, it can be considered as an alternative treatment in patients with proximal lacrimal system obstruction. PMID:27197871

  13. Ophthalmic diagnostic tests, orbital anatomy, and adnexal histology of the broad-snouted caiman (Caiman latirostris).

    PubMed

    Oriá, Arianne P; Oliveira, Alberto Vinícius D; Pinna, Melissa H; Martins Filho, Emanoel F; Estrela-Lima, Alessandra; Peixoto, Tiago C; Silva, Renata Maria M da; Santana, Fernanda O; Meneses, Íris Daniela S; Requião, Kátia G; Ofri, Ron

    2015-01-01

    The aim of this study was to establish normal ophthalmic parameters for selected diagnostic tests, and to describe the orbital anatomy and adnexal histology of the broad-snouted caiman. A total of 35 Caiman latirostris that were free of obvious ocular diseases were used to measure the parameters in this investigation. Ages ranged from 5 to 15 years. Ophthalmic diagnostic tests were conducted, including evaluation of tear production with Schirmer Tear test-1 (STT1), culture of the conjunctival bacterial flora, applanation tonometry, conjunctival cytology, nictiating membrane incursion frequency test (NMIFT), endodontic absorbent paper point tear test (EAPPTT), palpebral fissure length measurement (PFL) and B-mode ultrasonography. Adnexal histology and skull samples were studied. Mean (±SD) STT1 was 3.4 ± 3.6 mm/min (95% confidence interval of 2.01-4.78 mm/min), intraocular pressure (IOP) was 12.9 ± 6.2 mmHg, NMIFT was 6.0 ± 3.5, EAPPTT was 17.1 ± 2.5 mm/min, PFL was 28.9 ± 3.0 mm, anterior chamber depth was 3.1 ± 0.3 mm, lens axial length was 8.4 ± 0.6 mm, vitreous chamber depth was 7.9 ± 0.7 mm and axial globe length was 19.9 ± 1.3 mm. For all animals evaluated, Bacillus sp., Diphteroids and Staphylococcus sp. were predominant. © 2013 American College of Veterinary Ophthalmologists.

  14. The Changes of Tear Status after Conventional and Wavefront-Guided IntraLASIK

    PubMed Central

    Foo, Say Kiang; Kaur, Sharanjeet; Abd Manan, Faudziah; Low, Aloysius Joseph

    2011-01-01

    Background: IntraLASIK is a LASIK surgery that involved IntraLase femtosecond laser for the corneal flap creating. The objective of this research was to investigate and compare the changes in tear status at 1 and 3 months after undergoing conventional IntraLASIK with Bausch & Lomb PlanoScan (PS) algorithm, Bausch & Lomb Zyoptix Tissue Saving (ZTS) algorithm, and wavefront-guided (WG) IntraLASIK with VISX CustomVue. Methods: Tear status of 36 patients who were divided into 3 groups depending on the type of IntraLASIK they underwent (PS, n = 13; ZTS, n = 9; WG, n = 14) was evaluated. Tear status was determined by classifying the category of the thickness of pre-corneal tear lipid layer, non-invasive tear break-up time, and tear meniscus height. Repeated measures analysis of variance (ANOVA) and one way ANOVA were used for the statistical analyses. Results: The category of the thickness of tear lipid layer, non-invasive tear break up time and tear meniscus height were neither significantly changed after IntraLASIK for all groups nor showed significant difference among groups at 1 and 3 months post-IntraLASIK (P > 0.05). Blinking rate and palpebral aperture also had no significant changed after IntraLASIK. Conclusion: Both conventional (PS and ZTS) and WG IntraLASIK did not affect tear status up to 3 months post-IntraLASIK. WG IntraLASIK did not show superiority in preserving tear status 1 and 3 months post-surgery compared with conventional IntraLASIK. PMID:22135584

  15. Comparison of facial features of DiGeorge syndrome (DGS) due to deletion 10p13-10pter with DGS due to 22q11 deletion

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    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 unrelatedmore » 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.« less

  16. De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

    PubMed Central

    Lugtenberg, Dorien; Reijnders, Margot R F; Fenckova, Michaela; Bijlsma, Emilia K; Bernier, Raphael; van Bon, Bregje W M; Smeets, Eric; Vulto-van Silfhout, Anneke T; Bosch, Danielle; Eichler, Evan E; Mefford, Heather C; Carvill, Gemma L; Bongers, Ernie M H F; Schuurs-Hoeijmakers, Janneke HM; Ruivenkamp, Claudia A; Santen, Gijs W E; van den Maagdenberg, Arn M J M; Peeters-Scholte, Cacha M P C D; Kuenen, Sabine; Verstreken, Patrik; Pfundt, Rolph; Yntema, Helger G; de Vries, Petra F; Veltman, Joris A; Hoischen, Alexander; Gilissen, Christian; de Vries, Bert B A; Schenck, Annette; Kleefstra, Tjitske; Vissers, Lisenka E L M

    2016-01-01

    Recently WAC was reported as a candidate gene for intellectual disability (ID) based on the identification of a de novo mutation in an individual with severe ID. WAC regulates transcription-coupled histone H2B ubiquitination and has previously been implicated in the 10p12p11 contiguous gene deletion syndrome. In this study, we report on 10 individuals with de novo WAC mutations which we identified through routine (diagnostic) exome sequencing and targeted resequencing of WAC in 2326 individuals with unexplained ID. All but one mutation was expected to lead to a loss-of-function of WAC. Clinical evaluation of all individuals revealed phenotypic overlap for mild ID, hypotonia, behavioral problems and distinctive facial dysmorphisms, including a square-shaped face, deep set eyes, long palpebral fissures, and a broad mouth and chin. These clinical features were also previously reported in individuals with 10p12p11 microdeletion syndrome. To investigate the role of WAC in ID, we studied the importance of the Drosophila WAC orthologue (CG8949) in habituation, a non-associative learning paradigm. Neuronal knockdown of Drosophila CG8949 resulted in impaired learning, suggesting that WAC is required in neurons for normal cognitive performance. In conclusion, we defined a clinically recognizable ID syndrome, caused by de novo loss-of-function mutations in WAC. Independent functional evidence in Drosophila further supported the role of WAC in ID. On the basis of our data WAC can be added to the list of ID genes with a role in transcription regulation through histone modification. PMID:26757981

  17. Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.

    PubMed

    Kosaki, Rika; Terashima, Hiroshi; Kubota, Masaya; Kosaki, Kenjiro

    2017-01-01

    DNA methylation plays a critical role in both embryonic development and tumorigenesis and is mediated through various DNA methyltransferases. Constitutional mutations in the de novo DNA methyltransferase DNMT3A cause a recently identified Tatton-Brown-Rahman overgrowth syndrome (TBRS). Somatically acquired mutations in DNMT3A are causally associated with acute myeloid leukemia (AML), and p.Arg882His represents the most prevalent hotspot. So far, no patients with TBRS have been reported to have subsequently developed AML. Here, we report a live birth and the survival of a female with the TBRS phenotype who had a heterozygous constitutional DNMT3A mutation at the AML somatic mutation hotspot p.Arg882His in her DNA from peripheral blood and buccal tissue. Her characteristic features at birth included hypotonia, narrow palpebral fissures, ventricular septal defect, umbilical hernia, sacral cyst, Chiari type I anomaly. At the age of 6 years, she exhibited overgrowth (> 3 SD) and round face and intellectual disability. This report represents the first documentation of the same variant (DNMT3A p.Arg882His) as both the constitutional mutation associated with TBRS and the somatic mutation hotspot of AML. The observation neither confirms nor denies the notion that mutations responsible for TBRS and those for AML might share the same mode of action. Larger data sets are required to determine whether TBRS patients with constitutional DNMT3A mutations are at an increased risk for AML. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  18. Nonmosaic tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with characteristic facial appearance and review of the literature.

    PubMed

    Xu, Huihui; Xiao, Bing; Ji, Xing; Hu, Qin; Chen, Yingwei; Qiu, Wenjuan

    2014-07-01

    Tetrasomy for the distal chromosome 15q is rare, and only 22 patients (including 6 cases without detailed information) have been described to date in the literature. Here we report on another patient with nonmosaic tetrasomy 15q25.2-qter resulted from an inverted duplication of distal chromosome 15. This patient presents with features of development delay, arachnodactyly, joint contractures and typical facial dysmorphism including frontal bossing, short palpebral fissures, long philtrum, low-set ears, high-arched palate and retrognathia. Unlike most of the related patients, abdominal ultrasound test and brain MRI showed normal. Karyotyping analysis revealed a supernumerary marker chromosome presented in all metaphase cells examined. Parental karyotyping analysis was normal, indicating a de novo chromosome aberration of the patient. SNP microarray analysis found a two copy gain of 17.7 Mb from the distal long arm of chromosome 15 (15q25.2-qter). Further FISH analysis using SureFISH 15q26.3 IGF1R probe proved an inverted duplication of distal long arm of chromosome 15. The segmental duplications which lie in the hotspots of 15q24-26 might increase the susceptibility of chromosome rearrangement. Compared with the George-Abraham' study [2012], ADAMTSL3 might be more related to the cardiac disorders in tetrasomy 15q patients. Considering all patients reported in the literature, different mosaic degrees and segmental sizes don't correlate to the severity of phenotypes. A clear delineation on tetrasomy for distal chromosome 15q could still be investigated. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  19. Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.

    PubMed

    Descipio, Cheryl; Schneider, Lori; Young, Terri L; Wasserman, Nora; Yaeger, Dinah; Lu, Fengmin; Wheeler, Patricia G; Williams, Marc S; Bason, Lynn; Jukofsky, Lori; Menon, Ammini; Geschwindt, Ryan; Chudley, Albert E; Saraiva, Jorge; Schinzel, Albert A G L; Guichet, Agnes; Dobyns, William E; Toutain, Annick; Spinner, Nancy B; Krantz, Ian D

    2005-04-01

    We have identified six children in three families with subtelomeric deletions of 6p25 and a recognizable phenotype consisting of ptosis, posterior embryotoxon, optic nerve abnormalities, mild glaucoma, Dandy-Walker malformation, hydrocephalus, atrial septal defect, patent ductus arteriosus, and mild mental retardation. There is considerable clinical overlap between these children and individuals with the Ritscher-Schinzel (or cranio-cerebello-cardiac (3C)) syndrome (OMIM #220210). Clinical features of 3C syndrome include craniofacial anomalies (macrocephaly, prominent forehead and occiput, foramina parietalia, hypertelorism, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or cleft palate, and low-set ears), cerebellar malformations (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects). Since the original report, over 25 patients with 3C syndrome have been reported. Recessive inheritance has been postulated based on recurrence in siblings born to unaffected parents and parental consanguinity in two familial cases. Molecular and cytogenetic mapping of the 6p deletions in these three families with subtelomeric deletions of chromosome 6p have defined a 1.3 Mb minimally deleted critical region. To determine if 6p deletions are common in 3C syndrome, we analyzed seven unrelated individuals with 3C syndrome for deletions of this region. Three forkhead genes (FOXF1 and FOXQ1 from within the critical region, and FOXC1 proximal to this region) were evaluated as potential candidate disease genes for this disorder. No deletions or disease-causing mutations were identified.

  20. Pertinent anatomy and analysis for midface volumizing procedures.

    PubMed

    Surek, Christopher C; Beut, Javier; Stephens, Robert; Jelks, Glenn; Lamb, Jerome

    2015-05-01

    The study was conducted to construct an anatomically inspired midfacial analysis facilitating safe, accurate, and dynamic nonsurgical rejuvenation. Emphasis is placed on determining injection target areas and adverse event zones. Twelve hemifacial fresh cadavers were dissected in a layered fashion. Dimensional measurements between the midfacial fat compartments, prezygomatic space, mimetic muscles, and neurovascular bundles were used to develop a topographic analysis for clinical injections. A longitudinal line from the base of the alar crease to the medial edge of the levator anguli oris muscle (1.9 cm), lateral edge of the levator anguli oris muscle (2.6 cm), and zygomaticus major muscle (4.6 cm) partitions the cheek into two aesthetic regions. A six-step facial analysis outlines three target zones and two adverse event zones and triangulates the point of maximum cheek projection. The lower adverse event zone yields an anatomical explanation to inadvertent jowling during anterior cheek injection. The upper adverse event zone localizes the palpebral branch of the infraorbital artery. The medial malar target area isolates quadrants for anterior cheek projection and tear trough effacement. The middle malar target area addresses lid-cheek blending and superficial compartment turgor. The lateral malar target area highlights lateral cheek projection and locates the prezygomatic space. This stepwise analysis illustrates target areas and adverse event zones to achieve midfacial support, contour, and profile in the repose position and simultaneous molding of a natural shape during animation. This reproducible method can be used both procedurally and in record-keeping for midface volumizing procedures.

  1. 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. © 2012 The Author. Clinical and Experimental Ophthalmology © 2012 Royal Australian and New Zealand College of Ophthalmologists.

  2. Population differences in dysmorphic features among children with fetal alcohol spectrum disorders.

    PubMed

    May, Philip A; Gossage, J Phillip; Smith, Matthew; Tabachnick, Barbara G; Robinson, Luther K; Manning, Melanie; Cecanti, Mauro; Jones, Kenneth Lyons; Khaole, Nathaniel; Buckley, David; Kalberg, Wendy O; Trujillo, Phyllis M; Hoyme, H Eugene

    2010-05-01

    To examine the variation in significant dysmorphic features in children from 3 different populations with the most dysmorphic forms of fetal alcohol spectrum disorders, fetal alcohol syndrome (FAS), and partial fetal alcohol syndrome (PFAS). Advanced multiple regression techniques are used to determine the discriminating physical features in the diagnosis of FAS and PFAS among children from Northern Plains Indian communities, South Africa, and Italy. Within the range of physical features used to identify children with fetal alcohol spectrum disorders, specifically FAS and PFAS, there is some significant variation in salient diagnostic features from one population to the next. Intraclass correlations in diagnostic features between these 3 populations is 0.20, indicating that about 20% of the variability in dysmorphology core features is associated with location and, therefore, specific racial/ethnic population. The highly significant diagnostic indicators present in each population are identified for the full samples of FAS, PFAS, and normals and also among children with FAS only. A multilevel model for these populations combined indicates that these variables predict dysmorphology unambiguously: small palpebral fissures, narrow vermillion, smooth philtrum, flat nasal bridge, and fifth finger clinodactyly. Long philtrum varies substantially as a predictor in the 3 populations. Predictors not significantly related to fetal alcohol spectrum disorders dysmorphology across the 3 populations are centile of height (except in Italy) strabismus, interpupilary distance, intercanthal distance, and heart murmurs. The dysmorphology associated with FAS and PFAS vary across populations, yet a particular array of common features occurs in each population, which permits a consistent diagnosis across populations.

  3. Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.

    PubMed

    López, María; García-Oguiza, Alberto; Armstrong, Judith; García-Cobaleda, Inmaculada; García-Miñaur, Sixto; Santos-Simarro, Fernando; Seidel, Verónica; Domínguez-Garrido, Elena

    2018-03-05

    Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder characterized by broad thumbs and halluces. RSTS is caused by mutations in CREBBP and in EP300 genes in 50-60% and 8%, respectively. Up to now, 76 RSTS-EP300 patients have been described. We present the clinical and molecular characterization of a cohort of RSTS patients carrying EP300 mutations. Patients were selected from a cohort of 72 individuals suspected of RSTS after being negative in CREBBP study. MLPA and panel-based NGS EP300 were performed. Eight patients were found to carry EP300 mutations. Phenotypic characteristics included: intellectual disability (generally mild), postnatal growth retardation, infant feeding problems, psychomotor and language delay and typical facial dysmorphisms (microcephaly, downslanting palpebral fissures, columella below the alae nasi, and prominent nose). Broad thumbs and/or halluces were common, but angulated thumbs were only found in two patients. We identified across the gene novel mutations, including large deletion, frameshift mutations, nonsense, missense and splicing alterations, confirming de novo origin in all but one (the mother, possibly underdiagnosed, has short and broad thumbs and had learning difficulties). The clinical evaluation of our patients corroborates that clinical features in EP300 are less marked than in CREBBP patients although it is difficult to establish a genotype-phenotype correlation although. It is remarkable that these findings are observed in a RSTS-diagnosed cohort; some patients harbouring EP300 mutations could present a different phenotype. Broadening the knowledge about EP300-RSTS phenotype may contribute to improve the management of patients and the counselling to the families.

  4. B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

    PubMed Central

    Houge, Gunnar; Haesen, Dorien; Vissers, Lisenka E.L.M.; Mehta, Sarju; Parker, Michael J.; Wright, Michael; Vogt, Julie; McKee, Shane; Tolmie, John L.; Cordeiro, Nuno; Kleefstra, Tjitske; Willemsen, Marjolein H.; Reijnders, Margot R.F.; Berland, Siren; Hayman, Eli; Lahat, Eli; Brilstra, Eva H.; van Gassen, Koen L.I.; Zonneveld-Huijssoon, Evelien; de Bie, Charlotte I.; Hoischen, Alexander; Eichler, Evan E.; Holdhus, Rita; Steen, Vidar M.; Døskeland, Stein Ove; Hurles, Matthew E.; FitzPatrick, David R.; Janssens, Veerle

    2015-01-01

    Here we report inherited dysregulation of protein phosphatase activity as a cause of intellectual disability (ID). De novo missense mutations in 2 subunits of serine/threonine (Ser/Thr) protein phosphatase 2A (PP2A) were identified in 16 individuals with mild to severe ID, long-lasting hypotonia, epileptic susceptibility, frontal bossing, mild hypertelorism, and downslanting palpebral fissures. PP2A comprises catalytic (C), scaffolding (A), and regulatory (B) subunits that determine subcellular anchoring, substrate specificity, and physiological function. Ten patients had mutations within a highly conserved acidic loop of the PPP2R5D-encoded B56δ regulatory subunit, with the same E198K mutation present in 6 individuals. Five patients had mutations in the PPP2R1A-encoded scaffolding Aα subunit, with the same R182W mutation in 3 individuals. Some Aα cases presented with large ventricles, causing macrocephaly and hydrocephalus suspicion, and all cases exhibited partial or complete corpus callosum agenesis. Functional evaluation revealed that mutant A and B subunits were stable and uncoupled from phosphatase activity. Mutant B56δ was A and C binding–deficient, while mutant Aα subunits bound B56δ well but were unable to bind C or bound a catalytically impaired C, suggesting a dominant-negative effect where mutant subunits hinder dephosphorylation of B56δ-anchored substrates. Moreover, mutant subunit overexpression resulted in hyperphosphorylation of GSK3β, a B56δ-regulated substrate. This effect was in line with clinical observations, supporting a correlation between the ID degree and biochemical disturbance. PMID:26168268

  5. Topically applied 1% voriconazole induces dysplastic changes on the ocular surface: animal study.

    PubMed

    Arikan, Gul; Karatas, Ezgi; Lebe, Banu; Ayhan, Ziya; Utine, Canan Asli; Kutsoylu, Oya Eren; Gunenc, Uzeyir; Yilmaz, Osman

    2018-04-26

    To identify the risk of inducing ocular surface dysplasia following topical administration of 1% voriconazole eye drop. Fourteen noninflamed healthy eyes of 14 white adult New Zealand rabbits were included in the study. The rabbits were randomly divided into two groups comprised of 7 rabbits each. Group 1 received topical 1% voriconazole and Group 2 received topical saline as the control group. In all animals, right eye was selected for the study. In Group 1 (Voriconazole Group), single drop of voriconazole was instilled every 10 min consecutively for 17 times a day for 60 days. In Group 2 (Control Group), single drop of saline was instilled every 10 min consecutively for 17 times a day for 60 days. At two months, animals were sacrificed and study eyes were enucleated with the eyelids. The specimens were stained with hematoxylin-eosin and histopathologic changes in cornea, bulbar and palpebral conjunctiva were evaluated under light microscope. There were no macroscopically visible lesions on the ocular surface of any rabbits. Histopathological evaluation showed mild to moderate dysplasia localized mainly in the limbus and extending to the adjacent cornea and bulbar conjunctiva in all rabbits in Voriconazole Group. Severe dysplasia or carcinoma in situ was not observed. In the Control Group, dysplasia was not observed, at all. This animal study provides a possible relationship between topically administered 1% voriconazole and ocular surface dysplasia. We recommend ophthalmologists to be aware of the risk of ocular surface dysplasia in patients received voriconazole eye drop.

  6. Impression cytology: a novel sampling technique for conjunctival cytology of the feline eye.

    PubMed

    Eördögh, Réka; Schwendenwein, Ilse; Tichy, Alexander; Nell, Barbara

    2015-07-01

    Impression cytology is a noninvasive investigation of the ocular surface. It uses the adhesive features of different filter papers to collect a monolayer of epithelial cells from the cornea and/or conjunctiva. Samples obtained by impression cytology exhibit all characteristics of an ideal cytology specimen. The aim of this study was to test the feasibility of impression cytology and determine the most appropriate filter paper to achieve maximum diagnostic value of the feline eye. Ten healthy cats. The study was conducted in two phases. In the first phase, eight different filter papers (FPs) with various pore sizes were tested: 3.0-, 1.2-, 0.8-, 0.45-, 0.22-, 0.05- and 0.025-μm cellulose acetate papers and a 0.4-μm Biopore membrane (BM). Samples were obtained from the superior bulbar and from the inferior palpebral conjunctiva. In the second phase, three different sampling methods - with and without topical anesthesia, and with topical anesthesia and drying of the conjunctiva - were compared employing the BM encased in the intended BM device (BMD). Samples were evaluated for cellularity and quality of cells. In the first phase, samples obtained from the superior bulbar conjunctiva with the BM had the most sufficient cellularity and quality. In the second phase, BMD with topical anesthesia and additional drying of the conjunctiva was the most ideal method. The BMD may prove to be a suitable diagnostic tool for clinicians. Sampling is quick, processing is simple, and a large area of intact cells can be harvested. © 2014 American College of Veterinary Ophthalmologists.

  7. Orbital abscess during endodontic treatment: a case report.

    PubMed

    de Medeiros, Eduardo Henrique Pantosso; Pepato, André Oliveira; Sverzut, Cássio Edvard; Trivellato, Alexandre Elias

    2012-11-01

    Orbital infections may result in permanent morbidity because of the severity of infection. Furthermore, delayed diagnosis or treatment of orbital infections can lead to intracranial complications and even death. The majority of orbital infections develop from paranasal sinus infections, cutaneous infections, and periorbital trauma. Dacryocystitis and odontogenic infection are also accounted as potential etiologies but are scarcely reported in scientific literature. The patient revealed a history of having endodontic treatment on left maxillary second molar performed 2 weeks previously. Moreover, she exhibited signs of facial pain accompanied by sinusitis symptoms, fever, and nasal obstruction the week after this endodontic procedure. The patient presented proptosis, impairment of ocular motility to the right side, facial tenderness, palpebral erythema, and referred decreased visual acuity. Intraoral exam revealed root fragments of left maxillary first molar and an extensive carious lesion on left maxillary second molar. Computed tomography enabled the observation of frontal sinus, left-sided maxillary, opacity of sphenoidal and ethmoidal sinuses, and apical lesion of left maxillary first and second molars, all suggesting the presence of their apex in the maxillary sinus. In addition, images revealed ocular proptosis and presence of high-density areas suggestive of pus in the medial orbital wall region. The patient was submitted to surgical drainage under general anesthesia approximately 8 hours after the clinical evaluation. Early detection of orbital infection, proper diagnostic tests, and treatment may provide successful outcomes of this rarely occurring disease. Copyright © 2012 American Association of Endodontists. Published by Elsevier Inc. All rights reserved.

  8. [Behavioral pharmacological properties of nicergoline. Effects on gross-behavior in rats and monkeys and on DRL response, CER, and CAR in rats].

    PubMed

    Yamamura, M; Maeda, K; Nakagawa, H; Ishida, R

    1986-02-01

    Whether nicergoline has psychotropic-like pharmacological properties was examined through the gross-behavioral and operant behavioral observations in rats and monkeys. In gross-behavioral observations, slight decrement of spontaneous motor activity, lying on the abdomen and relaxation of abdominal tone were observed in rats when nicergoline was administered intravenously (1 mg/kg or more) and intraperitoneally (4 mg/kg or more). However, when it was administered orally, slight decrement of spontaneous motor activity was observed only at large doses of 32 and 128 mg/kg. In monkeys, nicergoline produced decrement of spontaneous motor activity, palpebral ptosis, and lacrimation when administered intraperitoneally at doses of 1 mg/kg or more. Under a differential reinforcement of low rate (DRL) schedule for food reinforcement in rats, nicergoline depressed the response at 4 mg/kg, i.p., or 128 mg/kg, orally. In conditioned emotional response (CER), nicergoline had no effect on the responses during both the alarm and safe periods at doses of 0.25, 1, and 4 mg/kg, i.p., or 8, 32, and 128 mg/kg, p.o. In Sidman continuous avoidance response (CAR), nicergoline (0.25, 1, and 4 mg/kg, i.p., or 8, 32, and 128 mg/kg, p.o.) slightly depressed the response and increased the total shock. These results were compared with those of chlorpromazine, chlordiazepoxide, pentobarbital, and methamphetamine and the following conclusion was drawn: Inhibitory effects of nicergoline on gross and operant behaviors seem to be non-specific, and its behavioral pharmacological properties are qualitatively different from those of anti-psychotics, anti-anxietics, hypnotics, and stimulants.

  9. Use of 2-octyl cyanoacrylate for wound closure in a modified Roberts-Bistner procedure for eyelid agenesis in five cats (nine eyes).

    PubMed

    Reed, Zoe; Doering, Clinton J; Barrett, Paul M

    2018-01-15

    CASE DESCRIPTION 5 cats (9 eyes) were evaluated for surgical correction of bilateral eyelid agenesis. CLINICAL FINDINGS All eyes lacked > 25% of the temporal upper eyelid, and all cats had clinical signs attributable to chronic ocular exposure. Abnormalities were limited to the ocular surface in the 4 female cats, whereas the sole male cat had additional abnormalities consistent with anterior segment dysgenesis. TREATMENT AND OUTCOME A modified Roberts-Bistner procedure involving 2-octyl cyanoacrylate (2OCA) was performed on 9 eyes; 1 eye was enucleated. Surgical wounds in the initial 3 eyes were closed with 2OCA plus sutures, and flaps were lined with conjunctiva. The technique was optimized for remaining eyes by use of a single suture for flap apposition, no conjunctival lining of flaps, and 2OCA alone for wound closure. Median duration of surgery was 35 minutes/eye for the initial 3 eyes versus 16 minutes/eye for the subsequent 6 eyes treated with the optimized procedure. After surgery, all cats had complete palpebral reflexes and resolution of clinical signs of ocular irritation. Minor complications in the early postoperative period included eyelid swelling (n = 9), poor cosmesis (7), and persistent epiphora (3). By the second recheck examination, swelling had resolved and cosmesis was considered excellent. Two eyes with epiphora had been treated with the initial modified procedure and required cryoepilation for resolution of epiphora. CLINICAL RELEVANCE The modified Roberts-Bistner procedure for eyelid agenesis involving 2OCA for wound closure provided functional, cosmetic eyelids that improved comfort and provided protection of the ocular surface in affected cats.

  10. De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.

    PubMed

    Lugtenberg, Dorien; Reijnders, Margot R F; Fenckova, Michaela; Bijlsma, Emilia K; Bernier, Raphael; van Bon, Bregje W M; Smeets, Eric; Vulto-van Silfhout, Anneke T; Bosch, Danielle; Eichler, Evan E; Mefford, Heather C; Carvill, Gemma L; Bongers, Ernie M H F; Schuurs-Hoeijmakers, Janneke Hm; Ruivenkamp, Claudia A; Santen, Gijs W E; van den Maagdenberg, Arn M J M; Peeters-Scholte, Cacha M P C D; Kuenen, Sabine; Verstreken, Patrik; Pfundt, Rolph; Yntema, Helger G; de Vries, Petra F; Veltman, Joris A; Hoischen, Alexander; Gilissen, Christian; de Vries, Bert B A; Schenck, Annette; Kleefstra, Tjitske; Vissers, Lisenka E L M

    2016-08-01

    Recently WAC was reported as a candidate gene for intellectual disability (ID) based on the identification of a de novo mutation in an individual with severe ID. WAC regulates transcription-coupled histone H2B ubiquitination and has previously been implicated in the 10p12p11 contiguous gene deletion syndrome. In this study, we report on 10 individuals with de novo WAC mutations which we identified through routine (diagnostic) exome sequencing and targeted resequencing of WAC in 2326 individuals with unexplained ID. All but one mutation was expected to lead to a loss-of-function of WAC. Clinical evaluation of all individuals revealed phenotypic overlap for mild ID, hypotonia, behavioral problems and distinctive facial dysmorphisms, including a square-shaped face, deep set eyes, long palpebral fissures, and a broad mouth and chin. These clinical features were also previously reported in individuals with 10p12p11 microdeletion syndrome. To investigate the role of WAC in ID, we studied the importance of the Drosophila WAC orthologue (CG8949) in habituation, a non-associative learning paradigm. Neuronal knockdown of Drosophila CG8949 resulted in impaired learning, suggesting that WAC is required in neurons for normal cognitive performance. In conclusion, we defined a clinically recognizable ID syndrome, caused by de novo loss-of-function mutations in WAC. Independent functional evidence in Drosophila further supported the role of WAC in ID. On the basis of our data WAC can be added to the list of ID genes with a role in transcription regulation through histone modification.

  11. Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.

    PubMed

    Klaassens, Merel; Morrogh, Deborah; Rosser, Elisabeth M; Jaffer, Fatima; Vreeburg, Maaike; Bok, Levinus A; Segboer, Tim; van Belzen, Martine; Quinlivan, Ros M; Kumar, Ajith; Hurst, Jane A; Scott, Richard H

    2015-05-01

    De novo monoallelic variants in NFIX cause two distinct syndromes. Whole gene deletions, nonsense variants and missense variants affecting the DNA-binding domain have been seen in association with a Sotos-like phenotype that we propose is referred to as Malan syndrome. Frameshift and splice-site variants thought to avoid nonsense-mediated RNA decay have been seen in Marshall-Smith syndrome. We report six additional patients with Malan syndrome and de novo NFIX deletions or sequence variants and review the 20 patients now reported. The phenotype is characterised by moderate postnatal overgrowth and macrocephaly. Median height and head circumference in childhood are 2.0 and 2.3 standard deviations (SD) above the mean, respectively. There is overlap of the facial phenotype with NSD1-positive Sotos syndrome in some cases including a prominent forehead, high anterior hairline, downslanting palpebral fissures and prominent chin. Neonatal feeding difficulties and/or hypotonia have been reported in 30% of patients. Developmental delay/learning disability have been reported in all cases and are typically moderate. Ocular phenotypes are common, including strabismus (65%), nystagmus (25% ) and optic disc pallor/hypoplasia (25%). Other recurrent features include pectus excavatum (40%) and scoliosis (25%). Eight reported patients have a deletion also encompassing CACNA1A, haploinsufficiency of which causes episodic ataxia type 2 or familial hemiplegic migraine. One previous case had episodic ataxia and one case we report has had cyclical vomiting responsive to pizotifen. In individuals with this contiguous gene deletion syndrome, awareness of possible later neurological manifestations is important, although their penetrance is not yet clear.

  12. Effectiveness of psychosocial interventions in eating disorders: an overview of Cochrane systematic reviews.

    PubMed

    Costa, Marcelle Barrueco; Melnik, Tamara

    2016-01-01

    Eating disorders are psychiatric conditions originated from and perpetuated by individual, family and sociocultural factors. The psychosocial approach to treatment and prevention of relapse is crucial. To present an overview of the scientific evidence on effectiveness of psychosocial interventions in treatment of eating disorders. All systematic reviews published by the Cochrane Database of Systematic Reviews - Cochrane Library on the topic were included. Afterwards, as from the least recent date of these reviews (2001), an additional search was conducted at PubMed with sensitive search strategy and with the same keywords used. A total of 101 primary studies and 30 systematic reviews (5 Cochrane systematic reviews), meta-analysis, guidelines or narrative reviews of literature were included. The main outcomes were: symptomatic remission, body image, cognitive distortion, psychiatric comorbidity, psychosocial functioning and patient satisfaction. The cognitive behavioral approach was the most effective treatment, especially for bulimia nervosa, binge eating disorder and the night eating syndrome. For anorexia nervosa, the family approach showed greater effectiveness. Other effective approaches were interpersonal psychotherapy, dialectic behavioral therapy, support therapy and self-help manuals. Moreover, there was an increasing number of preventive and promotional approaches that addressed individual, family and social risk factors, being promising for the development of positive self-image and self-efficacy. Further studies are required to evaluate the impact of multidisciplinary approaches on all eating disorders, as well as the cost-effectiveness of some effective modalities, such as the cognitive behavioral therapy. RESUMO Transtornos alimentares são doenças psiquiátricas originadas de e perpetuadas por fatores individuais, familiares e socioculturais. A abordagem psicossocial é essencial para o tratamento e a prevenção de recaídas. Apresentar uma vis

  13. 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

  14. 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.

  15. Expression profiles of aquaporins in rat conjunctiva, cornea, lacrimal gland and Meibomian gland.

    PubMed

    Yu, Dongfang; Thelin, William R; Randell, Scott H; Boucher, Richard C

    2012-10-01

    The aim of the study was to elucidate aquaporin (AQP) family member mRNA expression and protein expression/localization in the rat lacrimal functional unit. The mRNA expression of all rat AQPs (AQP0-9, 11-12) in palpebral, fornical, and bulbar conjunctiva, cornea, lacrimal gland, and Meibomian gland was measured by Reverse Transcriptase-Polymerase Chain Reaction (RT-PCR) and real time RT-PCR. Antibodies against AQP1, 3, 4, 5, 9, and 11 were used in Western blotting and immunohistochemistry to determine protein expression and distribution. Our study demonstrated characteristic AQP expression profiles in rat ocular tissues. AQP1, 3, 4, 5, 8, 9, 11, and 12 mRNA were detected in conjunctiva. AQP0, 1, 2, 3, 4, 5, 6, 11, and 12 mRNA were expressed in cornea. AQP0, 1, 2, 3, 4, 5, 7, 8, and 11 mRNA were detected in lacrimal gland. AQP1, 3, 4, 5, 7, 8, 9, 11, and 12 mRNA were identified in Meibomian gland. By Western blot, AQP1, 3, 5, and 11 were detected in conjunctiva; AQP1, 3, 5, and 11 were identified in cornea; AQP1, 3, 4, 5, and 11 were detected in lacrimal gland; and AQP1, 3, 4, 5, 9, and 11 were present in Meibomian gland. Immunohistochemistry localized AQPs to distinct sites in the various tissues. This study rigorously analyzed AQPs expression and localization in rat conjunctiva, cornea, lacrimal gland, and Meibomian gland tissues. Our findings provide a comprehensive platform for further investigation into the physiological or pathophysiological relevance of AQPs in ocular surface. Copyright © 2012 Elsevier Ltd. All rights reserved.

  16. Pediatric ptosis as a sign of treatable autonomic dysfunction.

    PubMed

    Phillips, Lara; Robertson, David; Melson, Mark R; Garland, Emily M; Joos, Karen M

    2013-08-01

    To report the ophthalmic findings in young patients with dopamine β-hydroxylase deficiency and to assess them in the context of other reports in an attempt to discern if ophthalmic criteria may assist in early detection of this debilitating, yet treatable, disorder. Prospective, observational case series. An ophthalmic examination, including measuring intraocular and systemic blood pressures while supine, sitting, and standing, and eyelid function and pupillary function testing, was completed on 3 young patients with recently documented dopamine β-hydroxylase deficiency at a single institution. Mean arterial blood pressures were 90.1 ± 18.5 mm Hg supine, 79.1 ± 25.7 mm Hg sitting, and 45.8 ± 11.6 mm Hg standing (P = .021). Mean intraocular pressures in these patients were 15.8 ± 1.0 mm Hg supine, 15.0 ± 3.6 mm Hg sitting, and 7.7 ± 2.3 mm Hg standing (P = .03). Mean palpebral fissure, levator function, and margin reflex distance were 8.2 ± 1.0 mm, 16.0 ± 0 mm, and 2.8 ± 0.6 mm, respectively. Measurable miosis was present in only 1 patient, and pupillary supersensitivity to 2.5% phenylephrine was not observed. The ophthalmologic findings of the patients in this case series documented mild ptosis and striking orthostatic reductions in intraocular pressure and mean arterial blood pressure, as might be expected with a lack of intrinsic sympathetic function. Orthostatic intraocular pressure and mean arterial blood pressure may be a helpful early screening tool for autonomic dysfunction in children undergoing a ptosis evaluation. Copyright © 2013 Elsevier Inc. All rights reserved.

  17. DOE Office of Scientific and Technical Information (OSTI.GOV)

    Hata, Masaharu, E-mail: mhata@syd.odn.ne.jp; Omura, Motoko; Koike, Izumi

    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 irradiatedmore » 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.« less

  18. 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

  19. The distinct optic disk and peripapillary appearance in Donnai-Barrow syndrome.

    PubMed

    Khan, Arif O; Ghazi, Nicola G

    2018-06-01

    Biallelic mutations in low-density lipoprotein-related protein 2 (LRP2) cause the multi-system Donnai-Barrow syndrome (facio-oculo-acoustico-renal syndrome). Although Donnai-Barrow syndrome is recognized as a form of vitreo-retinopathy, the ocular phenotype has not been well defined. The purpose of this study is to document the disk and peripapillary appearance in Donnai-Barrow syndrome. Retrospective cases series (five children with low vision from a consanguineous Emirati family known to harbor LRP2 mutation (NM_004525.2: c.7564T>C; p.Y42522H)). All five children had high myopia (spherical equivalent from -15 to -22). One had an ophthalmic phenotypic pathognomonic for Knobloch syndrome, and genetic testing confirmed a homozygous novel COL18A1 mutation (NM_130455.3: c.2978_2987del; p.Pro993Leufs*35) with heterozygosity for the LRP2 mutation. The other four children, confirmed to be homozygous for the LRP2 mutation, had hypertelorism and down-slanting palpebral fissures. Three had spontaneous retinal detachment (two bilateral and one unilateral) with complicated post-surgical courses following retinal detachment repair. The three eyes (two children) without retinal detachment had a consistent unique optic nerve head appearance, with thin emanating vessels and multiple rings of depigmentation that made it difficult to discern the edge of the apparently small and recessed neuroretinal rim. This distinct appearance was also present in the post-surgical eyes which were not phthisical and seemed present in the single published posterior pole image found during literature review. A distinctive optic nerve head dysgenesis is part of Donnai-Barrow syndrome and can help distinguish its ocular phenotype from other vitreo-retinopathies associated with high myopia.

  20. PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

    PubMed Central

    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

    2017-01-01

    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. PMID:28327570

  1. Evaluating the efficacy of epinastine ophthalmic solution using a conjunctivitis allergen challenge model in patients with birch pollen allergic conjunctivitis.

    PubMed

    Tagawa, Yoshiaki; Namba, Kenichi; Nakazono, Yumi; Iwata, Daiju; Ishida, Susumu

    2017-04-01

    The efficacy of epinastine 0.05% ophthalmic solution for pollen allergic conjunctivitis has already been shown in a conjunctival allergen challenge (CAC) test using cedar pollen as a challenge. The present study investigated the efficacy of this solution against birch pollen conjunctivitis in a CAC test. Ten adult subjects (eight males and two females) with asymptomatic birch pollen conjunctivitis were enrolled in this study. The average age of the subjects was 41.1 years. This study was conducted during a period without birch pollen dispersion. In each subject, the epinastine 0.05% ophthalmic solution was instilled in one eye, and an artificial tear fluid was instilled in the fellow eye in a double-blind manner. Five minutes or 4 h after the drug instillation, both eyes were challenged with an optimal concentration of birch pollen, and ocular itching and conjunctival hyperemia were then graded. Tears were collected before the drug instillation and 20 min after the pollen challenge, and the histamine level was measured. The ocular itching scores and palpebral conjunctival hyperemia scores of the epinastine-treated eyes were significantly lower than those of the contralateral control eyes when the eyes were pretreated with the drug 4 h before the CAC. There was a significant correlation between the tear histamine level and mean ocular itching score of three time points (3, 5 and 10 min) following the CAC in the control eyes but not the epinastine-treated eyes. Epinastine is effective in suppressing ocular itching and conjunctival hyperemia in birch pollen conjunctivitis. Copyright © 2017 Japanese Society of Allergology. Production and hosting by Elsevier B.V. All rights reserved.

  2. IgE antibody on worn highly oxygen-permeable silicone hydrogel contact lenses from patients with contact lens-induced papillary conjunctivitis (CLPC).

    PubMed

    Zhao, Zhenjun; Fu, Han; Skotnitsky, Cheryl C; Sankaridurg, Padmaja R; Willcox, Mark D P

    2008-03-01

    To investigate whether the level of IgE is increased in the eyes of patients during general contact lens-induced papillary conjunctivitis (CLPC) events, which involve enlarged papillae across the entire palpebral conjunctiva, or local CLPC events, in which papillae are confined to one or two parts of the area. Worn contact lenses were collected and soaked in phosphate-buffered saline. The levels of eluted IgE and IgE retained on contact lenses were detected by enzyme-linked immunosorbent assay. IgE was detected in 6 of 12 cases of general CLPC, 8 of 21 cases of local CLPC, and none of 14 control contact lenses. The average level of eluted IgE was 0.54 +/- 1.06 IU/contact lens, 0.28 +/- 0.54 IU/contact lens, and 0.04 +/- 0.06 IU/contact lens for general CLPC, local CLPC, and the control group, respectively. The incidences of positive IgE were significantly higher in patients with CLPC (general and local) than in control subjects, but no statistical difference was found between general and local CLPC. Generally higher amounts of retained IgE were detected on contact lenses that had increased levels of eluted IgE. Contact lenses that were collected before or after a CLPC event did not show increased levels of IgE. The level of IgE is increased in the eyes of some patients during an acute event of CLPC. The similar incidence of IgE-positive cases and levels of IgE from general and local CLPC contact lenses suggest that the conditions may share similar causal pathways.

  3. Efficacy of retinol palmitate eye drops for dry eye in rabbits with lacrimal gland resection

    PubMed Central

    Odaka, Akito; Toshida, Hiroshi; Ohta, Toshihiko; Tabuchi, Nobuhito; Koike, Daisuke; Suto, Chikako; Murakami, Akira

    2012-01-01

    Purpose We examined the efficacy of retinol palmitate (VApal) for dry eyes using dry eye model rabbits whose lacrimal glands were resected. Materials and methods After alkaline injury on keratoconjunctival epithelium, VApal eye drops were administered 6 times a day for 7 days. The efficacy of VApal was also compared with that of 0.1% hyaluronic acid eye drops. Results The fluorescein staining and rose bengal scores showed a significant decrease compared with the score in the vehicle group at 7 days (P < 0.05) in the 1000 IU/mL VApal group and at both 3 days (P < 0.05) and 7 days (P < 0.01) in the 1500 IU/mL VApal group. Histological examination revealed recovery of the corneal epithelium, and PAS staining disclosed the recovery of mucin-producing lower palpebral conjunctival goblet cells after 7 days in the 1500 IU/mL VApal group compared with the vehicle group. Results from impression cytology showed a significant increase in density of conjunctival goblet cells compared with that in the vehicle group after 7 days in the 1000 IU/mL VApal group and after 3 and 7 days in the 1500 IU/mL VApal group. There were no significant changes in tear flow in either group. Topical application of VApal at 1500 IU/mL showed greater improvement than 0.1% hyaluronic acid in both fluorescein and rose bengal score and in the density of conjunctival goblet cells. Conclusion It is suggested that VApal is effective for the improvement of keratoconjunctival epithelial damage associated with tear abnormalities, such as dry eyes. PMID:23055683

  4. 19q13.32 microdeletion syndrome: three new cases.

    PubMed

    Castillo, Angela; Kramer, Nancy; Schwartz, Charles E; Miles, Judith H; DuPont, Barbara R; Rosenfeld, Jill A; Graham, John M

    2014-01-01

    A previous report described a unique phenotype associated with an apparently de novo 732 kb 19q13.32 microdeletion, consisting of intellectual disability, facial asymmetry, ptosis, oculomotor abnormalities, orofacial clefts, cardiac defects, scoliosis and chronic constipation. We report three unrelated patients with developmental delay and dysmorphic features, who were all found to have interstitial 19q13.32 microdeletions of varying sizes. Both the previously reported patient and our Patient 1 with a larger, 1.3-Mb deletion have distinctive dysmorphic features and medical problems, allowing us to define a recognizable 19q13.32 microdeletion syndrome. Patient 1 was hypotonic and dysmorphic at birth, with aplasia of the posterior corpus callosum, bilateral ptosis, oculomotor paralysis, down-slanting palpebral fissures, facial asymmetry, submucosal cleft palate, micrognathia, wide-spaced nipples, right-sided aortic arch, hypospadias, bilateral inguinal hernias, double toenail of the left second toe, partial 2-3 toe syndactyly, kyphoscoliosis and colonic atony. Therefore, the common features of the 19q13.32 microdeletion syndrome include facial asymmetry, ptosis, oculomotor paralysis, orofacial clefting, micrognathia, kyphoscoliosis, aortic defects and colonic atony. These findings are probably related to a deletion of some combination of the 20-23 genes in common between these two patients, especially NPAS1, NAPA, ARHGAP35, SLC8A2, DHX34, MEIS3, and ZNF541. These candidate genes are expressed in the brain parenchyma, glia, heart, gastrointestinal tract and musculoskeletal system and likely play a fundamental role in the expression of this phenotype. This report delineates the phenotypic spectrum associated with the haploinsufficiency of genes found in 19q13.32. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  5. Ocular dimensions in relation to auxological data in a sample of Swedish children aged 4-15 years.

    PubMed

    Raffa, Lina H; Hellström, Ann; Aring, Eva; Andersson, Susann; Grönlund, Marita Andersson

    2014-11-01

    The purpose was to characterize normal growth patterns of ocular and optical components and to relate them to auxological data in a sample of Swedish children aged 4-15 years. A prospective cross-sectional study was carried out in 143 Swedish children with a mean age of 9.8 years. Variables including gestational age (GA), weight, length and head circumference (HCF) at birth and at the time of assessment were registered. Visual acuity (VA), cycloplegic refraction and biometric measures were obtained. Palpebral fissure length and inner canthal distance were measured. Optic disc morphology as seen on fundus photographs was analysed. Children born more mature, with male predilection, were found to have deeper anterior and vitreous chamber depths, longer axial lengths and thinner crystalline lens thickness. No correlations were found between ocular biometric measurements and VA or refraction after adjustment for confounding variables. Inner canthal distance was significantly correlated with birth length (p = 0.03), height, weight, BMI and HCF (p = 0.0008, p = 0.0007, p = 0.037, and p = 0.04, respectively) at time of assessment. Total axial length was found to be significantly correlated with GA (p = 0.0226) and length at assessment in girls (p = 0.0084). Right optic disc and rim areas decreased with increasing age (p = 0.0078 and p = 0.0107, respectively); however, optic disc parameters were not dependent on any other variable. These normative values may serve as a basis for the ocular findings and their relationship to auxological data in Caucasian children aged 4-15 years, as well as for future comparison in patients with paediatric ocular pathologies. © 2014 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.

  6. Facial preservation following extreme mummification: Shrunken heads.

    PubMed

    Houlton, Tobias M R; Wilkinson, Caroline

    2018-05-01

    Shrunken heads are a mummification phenomenon unique to South America. Ceremonial tsantsa are ritually reduced heads from enemy victims of the Shuar, Achuar, Awajún (Aguaruna), Wampís (Huambisa), and Candoshi-Shapra cultures. Commercial shrunken heads are comparatively modern and fraudulently produced for the curio-market, often using stolen bodies from hospital mortuaries and graves. To achieve shrinkage and desiccation, heads undergo skinning, simmering (in water) and drying. Considering the intensive treatments applied, this research aims to identify how the facial structure can alter and impact identification using post-mortem depiction. Sixty-five human shrunken heads were assessed: 6 ceremonial, 36 commercial, and 23 ambiguous. Investigations included manual inspection, multi-detector computerised tomography, infrared reflectography, ultraviolet fluorescence and microscopic hair analysis. The mummification process disfigures the outer face, cheeks, nasal root and bridge form, including brow ridge, eyes, ears, mouth, and nose projection. Melanin depletion, epidermal degeneration, and any applied staining changes the natural skin complexion. Papillary and reticular dermis separation is possible. Normal hair structure (cuticle, cortex, medulla) is retained. Hair appears longer (unless cut) and more profuse following shrinkage. Significant features retained include skin defects, facial creases, hairlines and earlobe form. Hair conditions that only affect living scalps are preserved (e.g. nits, hair casts). Ear and nose cartilage helps to retain some morphological information. Commercial heads appear less distorted than ceremonial tsantsa, often presenting a definable eyebrow shape, vermillion lip shape, lip thickness (if mouth is open), philtrum form, and palpebral slit angle. Facial identification capabilities are considered limited, and only perceived possible for commercial heads. Copyright © 2018 Elsevier B.V. All rights reserved.

  7. Effect of topical rebamipide on goblet cells in the lid wiper of human conjunctiva

    PubMed Central

    Kase, Satoru; Shinohara, Toshiya; Kase, Manabu; Ishida, Susumu

    2017-01-01

    It has been demonstrated that topical administration of rebamipide, which is an antiulcer agent, increases the mucin level of the tear film and ameliorates ocular surface conditions such as lid wiper epitheliopathy. The aim of the present study was to analyze the changes in goblet cell number, cell proliferation, and epidermal growth factor receptor (EGFR) induced by topical rebamipide addition to the lid wiper of humans. A total of 30 eyelid tissue samples were obtained during involutional entropion surgeries, fixed in paraformaldehyde, embedded in paraffin and divided into two groups: Rebamipide or non-rebamipide. The tissues in the rebamipide group were obtained from patients who had a medical history of topical rebamipide use prior to surgery. The number of goblet cells was counted under light microscopy. A total of 22 eyelid tissue samples were further examined using immunohistochemistry with anti-Ki-67 and anti-EGFR antibodies to evaluate cell proliferation and EGFR expression, respectively. Histologically, the lid wiper and palpebral conjunctiva were clearly identified in the tissues. The number of goblet cells was significantly higher in the rebamipide group compared with the non-rebamipide group (P=0.0367). There was no significant difference in lid wiper cell proliferation between the rebamipide and non-rebamipide groups. Immunohistochemistry revealed that EGFR levels in the lid wiper epithelial cells were significantly higher in the rebamipide group compared with the non-rebamipide group (P=0.0237). These results suggest that topical rebamipide application increases the number of goblet cells in the lid wiper, which in turn upregulates the expression of EGFR. These findings may be clinically relevant and provide a therapeutic basis for the treatment of ocular disease such as dry eye and lid wiper epitheliopathy. PMID:28587435

  8. Effect of topical rebamipide on goblet cells in the lid wiper of human conjunctiva.

    PubMed

    Kase, Satoru; Shinohara, Toshiya; Kase, Manabu; Ishida, Susumu

    2017-06-01

    It has been demonstrated that topical administration of rebamipide, which is an antiulcer agent, increases the mucin level of the tear film and ameliorates ocular surface conditions such as lid wiper epitheliopathy. The aim of the present study was to analyze the changes in goblet cell number, cell proliferation, and epidermal growth factor receptor (EGFR) induced by topical rebamipide addition to the lid wiper of humans. A total of 30 eyelid tissue samples were obtained during involutional entropion surgeries, fixed in paraformaldehyde, embedded in paraffin and divided into two groups: Rebamipide or non-rebamipide. The tissues in the rebamipide group were obtained from patients who had a medical history of topical rebamipide use prior to surgery. The number of goblet cells was counted under light microscopy. A total of 22 eyelid tissue samples were further examined using immunohistochemistry with anti-Ki-67 and anti-EGFR antibodies to evaluate cell proliferation and EGFR expression, respectively. Histologically, the lid wiper and palpebral conjunctiva were clearly identified in the tissues. The number of goblet cells was significantly higher in the rebamipide group compared with the non-rebamipide group (P=0.0367). There was no significant difference in lid wiper cell proliferation between the rebamipide and non-rebamipide groups. Immunohistochemistry revealed that EGFR levels in the lid wiper epithelial cells were significantly higher in the rebamipide group compared with the non-rebamipide group (P=0.0237). These results suggest that topical rebamipide application increases the number of goblet cells in the lid wiper, which in turn upregulates the expression of EGFR. These findings may be clinically relevant and provide a therapeutic basis for the treatment of ocular disease such as dry eye and lid wiper epitheliopathy.

  9. Growth pattern of the eye from birth to maturity: an Indian study.

    PubMed

    Purkait, Ruma

    2013-02-01

    The aim of the study was to follow the growth dynamics of ocular dimensions from birth to 18 years of age. The norms of dimensions at different ages, peak growth period, and maturity age of the dimensions are essential information for a physician in delineating syndromes or in deciding the optimal time for undertaking surgery to correct an abnormality. Lack of a comprehensive study in India has prompted us to undertake our own. A total of 1,960 healthy subjects from central India were included in the study. An anthropometric technique was used to measure medial (MICD) and lateral intercanthal distances (LICD), palpebral fissure length (PFL), and derived interpupillary distance (IPD). Two indices incorporating medial intercanthal distance with bizygomatic width (BZW) and maximum head breadth (HB) were derived. During infancy the growth rate of ocular dimensions range from 13 to 23 % in males and from 17 to 30 % in females. After infancy the growth rate falls below average in all dimensions except MICD. MICD matures at 9 and 11 years in females and males, respectively. The other dimensions follow in 2-3 years time. The indices MICD-HB and MICD-BZW vary between 20-22 and 24-25, respectively, during the normal growth period. Outside the range delineates a syndrome or abnormality. The present study has generated metric norms for all growing ages and also the growth dynamics for ocular dimensions of healthy Indian subjects. The knowledge will be useful to physicians as a guideline in correcting ocular deformity. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

  10. 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

  11. Biocompatibility of antimicrobial melimine lenses: rabbit and human studies.

    PubMed

    Dutta, Debarun; Ozkan, Jerome; Willcox, Mark D P

    2014-05-01

    Covalent immobilization of antimicrobial peptide melimine onto contact lenses can produce broad-spectrum antimicrobial lenses. The purpose of this study was to investigate the performance of melimine-coated contact lenses in an animal model and human clinical trial. Melimine was covalently attached onto the surface of contact lenses via EDC (1-ethyl-3-[3-dimethylaminopropyl] carbodiimide hydrochloride) coupling. A rabbit model of daily contralateral wear of lenses for 22 days was conducted to assess the lens safety. A prospective, randomized, double-masked, one-day human clinical trial was used to evaluate subjective responses and ocular physiology during contralateral wear of melimine-coated (test) and uncoated (control) lenses. Delayed reactions were monitored during follow-up visits after 1 and 4 weeks. Ex vivo retention of antimicrobial activity of worn lenses was assessed by reduction in numbers of viable Pseudomonas aeruginosa and Staphylococcus aureus. Melimine-coated lenses produced no ocular signs or symptoms that would indicate cytotoxicity during the lens wear of rabbits. No histological changes were found in rabbit corneas. During the human trial, no differences were observed in wettability, surface deposition, lens-fitting centration, movement, tightness, and corneal coverage between test and control lenses (p > 0.05). There were no significant differences in bulbar, limbal, or palpebral redness or conjunctival staining (p > 0.05). Mean corneal (extent, depth, and type) staining was higher for test lenses compared with that for control lenses (p < 0.05). There was no significant difference in subjective responses for lens comfort, dryness, and awareness (p > 0.05). No delayed reactions were associated with the test lenses. Worn test lenses retained more than 1.5 log inhibition against both bacterial types. Melimine-coated contact lenses were worn safely by humans. However, they were associated with higher corneal staining. The melimine-coated lenses

  12. [Chlamydia pneumoniae--etiology of ophthalmia neonatorum].

    PubMed

    Krásný, J; Borovanská, J; Hrubá, D

    2003-07-01

    The authors observed mucous discharge in palpebral aperture, accompanied by a different degree of effusion of eyelids and chemosis of conjunctivae, particularly the tarsal ones, in 12 physiological newborns. Chlamydia pneumoniae proved to be the etiological agent in the newborn ophthalmia. The eye infection was not detected in the same period of time and in the same maternity hospital in the period of observation from September 1999 to March 2001. The detection of Chlamydia pneumoniae was performed in conjunctiva smears. The impression films on slides were examined by the method of indirect immunofluorescence with the use of specific monoclonal antibodies (medac, Germany). In the early stages the secretion included a sanguineous component, which was then changing into a mucoid or mucopurulent form. The character of conjunctival symptoms was changing in the course of inflammation. Effusion of the lower transitory fold (plica) was gradually accompanied by a picture of pseudofollicular changes on the tarsal conjunctiva. Clarithromycin in the form of syrup at daily doses of 15 mg/kg/day for the period of two weeks offered an efficient therapy of the affection. Control smears after 14 days were always negative and, at the same time, the pathological finding on the conjunctivae disappeared. The nasolacrimal obstruction was the only complication of this chlamydia infection, taking place in seven sucklings, i.e. in 58%. The passage through lacrimal drainage system reappeared in all the affected infants until they reached one year of age. The remaining question to be answered is the way the newborns encountered the infection. A nosocomial infection may be the case, but Chlamydia pneumoniae could also be present in the urogenital tract of mothers and transferred to the newborn via the birth canal similarly as is the case of Chlamydia trachomatis infection. The mode of infection deserves further investigation.

  13. Azithromycin reduces inflammation in a rat model of acute conjunctivitis

    PubMed Central

    Fernandez-Robredo, Patricia; Recalde, Sergio; Moreno-Orduña, Maite; García-García, Laura; Zarranz-Ventura, Javier; García-Layana, Alfredo

    2013-01-01

    Purpose Macrolide antibiotics are known to have various anti-inflammatory effects in addition to their antimicrobial activity, but the mechanisms are still unclear. The effect of azithromycin on inflammatory molecules in the lipopolysaccharide-induced rat conjunctivitis model was investigated. Methods Twenty-four Wistar rats were divided into two groups receiving topical ocular azithromycin (15 mg/g) or vehicle. In total, six doses (25 µl) were administered as one dose twice a day for three days before subconjunctival lipopolysaccharide injection (3 mg/ml). Before the rats were euthanized, mucus secretion, conjunctival and palpebral edema and redness were evaluated. Real-time polymerase chain reaction was used to determine gene expression for interleukin-6, cyclooxygenase-2, tumor necrosis factor-α, matrix metalloproteinase (MMP)-2, and MMP-9. Interleukin-6 was determined with enzyme-linked immunosorbent assay, nuclear factor-kappa B with western blot, and MMP-2 activity with gelatin zymogram. Four eyes per group were processed for histology and subsequent periodic acid-Schiff staining and CD68 for immunofluorescence. The Student t test or the Wilcoxon test for independent samples was applied (SPSS v.15.0). Results Azithromycin-treated animals showed a significant reduction in all clinical signs (p<0.05) compared to controls. Interleukin-6 (p<0.05), nuclear factor-kappa B protein expression (p<0.01), and MMP-2 activity (p<0.05) in conjunctival homogenates were significantly reduced compared with the control animals. MMP-2 gene expression showed a tendency to decrease in the azithromycin group (p=0.063). Mucus secretion by goblet cells and the macrophage count in conjunctival tissue were also decreased in the azithromycin group (p<0.05). Conclusions These results suggest that azithromycin administration ameliorates induced inflammation effects in a rat model of acute conjunctivitis. PMID:23378729

  14. Ocular adnexal asymmetry in models: a magazine photograph analysis.

    PubMed

    Ing, Edsel; Safarpour, Azien; Ing, Tom; Ing, Sabrina

    2006-04-01

    Symmetry of facial features often correlates with a perception of physical attractiveness, and ophthalmologists are sometimes consulted by patients for eyelid, eyebrow, or orbital asymmetry. Our objective was to determine the prevalence of ocular adnexal asymmetry among people generally regarded as attractive. The mean width of the horizontal palpebral fissure (MHPF) for both men and women was determined in 40 adult volunteers. Then unobscured, head-on photographs of models looking in the primary position were digitally scanned from popular magazines. Eyelid height, eyelid folds, eyebrow height, medial canthus to midline distance, pupil to midline distance, and orbital dystopia measurements were made. After the measurements from the models were scaled to size by factoring with the MHPF obtained from the volunteers, the results were analyzed by paired samples t test for right-left asymmetry of the ocular adnexal measurements. We also examined for antimongoloid slant in the models. The MHPF of the volunteers was 27+/-1.3 mm for women and 29.6+/-2.0 mm for men. Of 102 magazine photographs analyzed, 55 were women and 47 men. As a group, the models showed a statistically significant asymmetry (p<0.05) in the horizontal fissure width, upper central lid fold, upper temporal lid fold, central eyebrow height, temporal eyebrow height, medial canthal to midline distance, pupil to midline distance, and orbital dystopia. The female models had more eyebrow asymmetry. The male models had more asymmetry at the horizontal fissure and with orbital dystopia. Two male models also had a unilateral antimongoloid slant. Small to moderate amounts of eyelid, eyebrow, and orbital asymmetry were observed in faces generally perceived as attractive. This fact should be considered during preoperative discussions with patients considering oculoplastic surgery.

  15. Effect of Retinol Palmitate on Corneal and Conjunctival Mucin Gene Expression in a Rat Dry Eye Model After Injury.

    PubMed

    Tabuchi, Nobuhito; Toshida, Hiroshi; Koike, Daisuke; Odaka, Akito; Suto, Chikako; Ohta, Toshihiko; Murakami, Akira

    We examined the wound-healing effect of retinol palmitate (VApal) on mucin gene and protein expressions in a rat dry eye model based on lacrimal gland (LG) resection after injury. The rat dry eye model was prepared by surgical resection of the main LG in male Long-Evans rats. After alkaline injury of the central part of the lower palpebral conjunctiva bilaterally, VApal eye drops at 1,500 IU/mL in one eye and a vehicle in the fellow eye were both administered 6 times a day for 7 days. The expression of mucin gene and protein was analyzed by real-time polymerase chain reaction or enzyme-linked immunosorbent assay in the cornea and conjunctiva of MUC1, MUC4, MUC16, and MUC5AC after 1, 3, (5), and 7 days of treatment with VApal. Significant decreases in fluorescein-stained areas and rose bengal scores were observed in VApal-treated dry eyes compared with vehicle-treated dry eyes at both 3 (P < 0.05) and 7 days (P < 0.01). Significant increases in corneal rMuc4 and conjunctival rMuc5AC after 1 day (P < 0.01) and conjunctival rMuc16 gene expression after 3 days were observed with VApal treatment (P < 0.05). Furthermore, conjunctival MUC16 expression significantly increased after 3 days of VApal treatment (P < 0.05). VApal promoted corneal rMuc4, conjunctival rMuc5AC, and conjunctival rMuc16 gene expression in a rat dry eye model after injury. VApal also promoted conjunctival MUC16 expression. These results indicate that VApal has efficacy in improving keratoconjunctival epithelial damage associated with decreased tear production.

  16. Effect of three months of soft contact lens wear on conjunctival cytology.

    PubMed

    Sapkota, Kishor; Franco, Sandra; Sampaio, Paula; Lira, Madalena

    2016-07-01

    The purpose of this study was to investigate the effect of three months of soft contact lens wear on conjunctival goblet cell density and epithelial cell morphology. This was a longitudinal clinical trial. Conjunctival impression cytology was performed on the superior palpebral conjunctiva in fifty-four eyes of twenty-seven neophyte contact lens wearers before and after three months of contact lens wear. Goblet cell density was determined by optical microscopy and epithelial cell morphology was classified according to the Tseng classification. Changes in goblet cell density as well as epithelial cell grading were determined. The effects of lens material and wearing modality on cytological changes were also investigated. Goblet cell density reduced significantly by 85 ± 151 cells/mm(2) (p < 0.001) after three months of contact lens wear. Reduction in goblet cell density was associated with lens materials; it was higher in conventional hydrogel lenses in comparison to silicone-hydrogel lenses (p = 0.008). The highest reduction in goblet cell density was found with Nelfilcon A lens wear (p = 0.002) and the lowest with Comfilcon A lens wear (p = 0.414). There was no statistically significant difference in grading of epithelial metaplasia before and after three months of contact lens wear (p = 0.075). Age was not correlated with the reduction in goblet cell density (r = -0.196, p = 0.160) but it was associated with the change in epithelial cell morphology (p = 0.036). Three months of soft contact lens wear statistically significantly reduced goblet cell density; however, no significant changes were found in the grading of epithelial metaplasia. Contact lenses with lower oxygen permeability, higher Young modulus and higher thickness highly affected the conjunctival cytology. © 2016 Optometry Australia.

  17. [New approaches to the treatment of keratoconjunctivitis sicca].

    PubMed

    Safonova, T N; Gladkova, O V; Novikov, I A; Boev, V I; Fedorov, A A

    A new method has been developed for the treatment of severe forms of keratoconjunctivitis sicca (KCS) that involves the use of an original cyclosporine A (CyA) saturated soft contact lens (SCL) together with preservative-free artificial tears therapy. to evaluate the effectiveness of the newly developed treatment for KCS based on the use of medical SCL saturated with 0.05% CyA. The patients (43 men, 60 eyes) with severe KCS were divided into 2 groups. Group 1 included 21 patients (30 eyes), who received artificial tears and wore 0.05% CyA-saturated silicone-hydrogel SCLs. Group 2 included 22 patients (30 eyes), who wore unsaturated original SCLs and received CyA instillations 2 times daily and, also, artificial tears. Apart from a standard ophthalmic examination, the assessment included Schirmer's test, Norn's test, vital eye stain tests, tear osmometry, laser confocal tomography of the cornea, optical coherence tomography of the anterior segment with meniscometry, impression cytology of the conjunctiva, tear pH measurement, plating of the content of the conjunctival cavity, measurement of the width of the palpebral fissure, and calculation of the ocular surface disease index. Treatment results were followed up at 1, 3, 6, and 12 months. The use of 0.05% CyA-saturated SCLs allows to halve treatment time for patients with severe KSC (down to 1 week - 1 month) as compared to unsaturated original SCLs in combination with 0.05% CyA instillations and to reduce it 5 times as compared to 0.05% CyA instillations only. The new method of KSC treatment that involves the use of medical SCL of original design (ensures even distribution of 0.05% CyA across the ocular surface) and preservative-free artificial tears has demonstrated high therapeutic effectiveness as compared to existing methods.

  18. 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

  19. Unique double de novo structural rearrangements for chromosome 11 with 46,XX,del(11)(q13q23)/46,XX,inv dup(11)(q13q23) in an infant with minor congenital abnormalities and delayed development

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Tharapel, A.T.; Zhao, J.; Smith, M.E.

    1994-09-01

    Reported here is a patient with two most unusual structural rearrangements, both involving chromosome 11. The first cell line showed an interstitial deletion of a chromosome 11 with a 46,XX,del(11)(q13q23) chromosome complement. In the second cell line, one of the chromosome 11s had a duplication for the exact region, (11)(q13q23), that was deleted in the first cell line. This duplication also appeared to be inverted with karyotype 46,XX,inv dup(11)(q13q23). Interestingly, chromosome analysis did not reveal a normal cell line and the two abnormal cell lines were present in a 1:1 ratio. Parental chromosome analyses showed normal karyotypes. The patient wasmore » referred for genetic evaluation because of developmental delay. Minor congenital anomalies presented on physical examination included: weight and height at or below the 5th percentile, microcephaly, downward slanting palpebral fissures, severe clinodactyly of one toe, bilateral short fifth fingers and a broad based gait. Results of the MRI and urine metabolic screen were normal. Two hypotheses are advanced to explain the origin of the abnormality. It is most likely that the abnormality arose as a postzygotic event at the very early zygotic division. During the first DNA synthesis after fertilization and before the zygotic division, DNA synthesis errors could result in two chromatids, one with a deletion and the other with a duplication. It is also possible that after the DNA synthesis prior to the first cell division, the chromatids of the same chromosome 11 for unknown reasons were involved in uneven double somatic crossing over events resulting in deleted and duplicated chromatids, respectively. The 1:1 cell ratio found in the patient and the apparent non-existence of a normal cell line further suggest that the origin of the abnormality was post-zygotic.« less

  20. Evaluation of medetomidine-ketamine and atipamezole for reversible anesthesia of free-ranging gray wolves (Canis lupus).

    PubMed

    Arnemo, Jon M; Evans, Alina L; Ahlqvist, Per; Segerström, Peter; Liberg, Olof

    2013-04-01

    Twenty-eight anesthetic events were carried out on 24 free-ranging Scandinavian gray wolves (Canis lupus) by darting from a helicopter with 5 mg medetomidine and 250 mg ketamine during winter in 2002 and 2003. Mean±SD doses were 0.162±0.008 mg medetomidine/kg and 8.1±0.4 mg ketamine/kg in juveniles (7-10 mo old) and 0.110±0.014 mg medetomidine/kg and 5.7±0.5 mg ketamine/kg in adults (>19 mo old). Mean±SD induction time was shorter (P<0.01) in juveniles (2.3±0.8 min) than in adults (4.1±0.6 min). In 26 cases, the animals were completely immobilized after one dart. Muscle relaxation was good, palpebral reflexes were present, and there were no reactions to handling or minor painful stimuli. Mild to severe hyperthermia was detected in 14/28 anesthetic events. Atipamezole (5 mg per mg medetomidine) was injected intramuscularly for reversal 98±28 and 94±40 min after darting in juveniles and adults, respectively. Mean±SD time from administration of atipamezole to coordinated walking was 38±20 min in juveniles and 41±21 min in adults. Recovery was uneventful in 25 anesthetic events, although vomiting was observed in five animals. One adult that did not respond to atipamezole was given intravenous fluids and was fully recovered 8 hr after darting. Two animals died 7-9 hr after capture, despite intensive care. Both mortalities were attributed to shock and circulatory collapse following stress-induced hyperthermia. Although effective, this combination cannot be recommended for darting free-ranging wolves from helicopter at the doses presented here because of the severe hyperthermia seen in several wolves, two deaths, and prolonged recovery in one individual.

  1. 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

  2. CHARGE association in a child with de novo inv dup (14)(q22{yields}q24.3)

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    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 combinationmore » 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.« less

  3. Neuro-ophthalmological approach to facial nerve palsy.

    PubMed

    Portelinha, Joana; Passarinho, Maria Picoto; Costa, João Marques

    2015-01-01

    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 with

  4. 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

  5. [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. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  6. EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome.

    PubMed

    Li, Chuan; Chen, Rongyu; Fan, Xin; Luo, Jingsi; Qian, Jiale; Wang, Jin; Xie, Bobo; Shen, Yiping; Chen, Shaoke

    2015-04-11

    Waardenburg syndrome type I (WS1), an auditory-pigmentary genetic disorder, is caused by heterozygous loss-of-function mutations in PAX3. Abnormal physical signs such as dystopia canthorum, patchy hypopigmentation and sensorineural hearing loss are common, but short stature is not associated with WS1. We reported a 4-year and 6 month-old boy with a rare combination of WS1 and severe short stature (83.5 cm (-5.8SD)). His facial features include dystopia canthorum, mild synophrys, slightly up-slanted palpebral fissure, posteriorly rotated ears, alae nasi hypoplasia and micrognathia. No heterochromia was noticed. He had a normal intelligence quotient and hearing. Insulin-like growth factor-1 (IGF-1) was 52.7 ng/ml, lower than the normal range (55 ~ 452 ng/ml) and the peak growth hormone level was 7.57 ng/ml at 90 minutes after taking moderate levodopa and pyridostigmine bromide. The patient exhibited a good response to human growth hormone (rhGH) replacement therapy, showing a 9.2 cm/year growth rate and an improvement of 1 standard deviation (SD) of height after one year treatment. CMA test of patient's DNA revealed a 4.46 Mb de novo deletion at 2q35-q36.2 (hg19; chr2:221,234,146-225,697,363). PAX3 haploinsufficiency is known to cause Waardenburg syndrome. Examining overlapping deletions in patients led to the conclusion that EPHA4 is a novel short stature gene. The finding is supported by the splotch-retarded and epha4 knockout mouse models which both showed growth retardation. We believe this rare condition is caused by the haploinsufficiency of both PAX3 and EPH4 genes. We further reported a growth response to recombinant human growth hormone treatment in this patient.

  7. Correlation between clinical signs of depth of anaesthesia and cerebral state index responses in dogs with different target-controlled infusions of propofol.

    PubMed

    Ribeiro, Lénio M; Ferreira, David A; Brás, Susana; Gonzalo-Orden, Jose M; Antunes, Luis M

    2012-01-01

    To evaluate if the cerebral state index (CSI), measured by a Cerebral State Monitor (CSM), can predict depth of anaesthesia as assessed clinically or by estimated propofol plasma concentrations. Prospective clinical study. Fourteen mixed breed dogs, weighing 24.5 ± 4.7 kg, scheduled to undergo neutering procedures. Dogs were premedicated with 0.05 mg kg(-1) acepromazine intramuscularly. The CSM and cardiovascular monitoring equipment were attached. Anaesthesia was induced with propofol using a target controlled infusion (TCI) to varying plasma propofol targets (PropCp). Following endotracheal intubation the dogs were ventilated with oxygen. Anaesthetic maintenance was with propofol by TCI. A PropCp of 3 μg dL(-1) was set initially, then PropCps were increased in 1 μg dL(-1) steps to 7, 9 and then 11 μg dL(-1). Each PropCp was held constant for a 5 minute period, at the end of which depth of anaesthesia was classified using a previously evaluated scale of 'planes' based on palpebral and corneal reflexes and eye position. Cerebral state index (CSI), burst suppression (BSR) and electromyogram were measured at these time points. The prediction probability (PK) of these variables, or of the PropCp in predicting depth of anaesthesia was calculated. The PKs for predicting anaesthetic planes were 0.74, 0.91, 0.76 and 0.78 for CSI, BSR, EMG and PropCp, respectively. The PKs for PropCp to predict CSI, BSR and EMG were 0.65, 0.71 and 0.65 respectively. The Cerebral State Monitor was able to detect very deep planes of anaesthesia when BSR occurs, but was not able to distinguish between the intermediate anaesthetic planes likely to be used in clinical anaesthesia. © 2011 The Authors. Veterinary Anaesthesia and Analgesia. © 2011 Association of Veterinary Anaesthetists and the American College of Veterinary Anesthesiologists.

  8. A Visão do Universo Segundo a Concepção de um Grupo de Alunos do Ensino Médio de São Paulo

    NASA Astrophysics Data System (ADS)

    Araújo, M. A. A.; Elias, D. C. N.; Amaral, L. H.; Araújo, M. S. T.; Voelzke, M. R.

    2005-12-01

    Nesse trabalho foi identificada por meio de um questionário a visão de mundo sobre o Universo espaço e tempo entre 270 estudantes de Ensino Médio de três escolas de São Paulo. Constatou-se pouco conhecimento dos temas investigados sendo que apenas 20% dos alunos relacionaram as semanas com as fases da lua enquanto 28% associaram as estações do ano à inclinação do eixo de rotação da Terra e 23% tinham noções das distâncias entre objetos celestes próximos da Terra. Enquanto 56% conseguiram relacionar o Big Bang com a origem do Universo verificou-se que 37% reconheciam ano-luz como unidade de distância e 60% reconheciam o Sol como uma estrela. Apesar de 60% dos alunos indicarem a escola como principal fonte dos conhecimentos de astronomia seus conceitos ainda são inadequados havendo necessidade de aprimoramento da abordagem desses conteúdos pois apesar de popular a astronomia é veiculada de maneira pouco esclarecedora e com imprecissões.

  9. Is NF-1 gene deletion the molecular mechanism of neurofibromatosis type 1 with destinctive facies?

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Leppig, K.A.; Stephens, K.G.; Viskochill, D.

    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 allmore » 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.« less

  10. Holoprosencephaly: ZIC2 mutation in a case with panhypopituitarism.

    PubMed

    Tasdemir, Sener; Sahin, Ibrahim; Cayır, Atilla; Doneray, Hakan; Solomon, Benjamin D; Muenke, Maximilian; Yuce, Ihsan; Tatar, Abdulgani

    2014-07-01

    Holoprosencephaly (HPE), the most common malformation of the brain, results from failed or incomplete separation of the embryonic forebrain (prosencephalon). HPE occurs in approximately 1 in 250 embryos and in about 1 in 10,000 births. It is etiologically heterogeneous, and may be caused by cytogenetic anomalies and teratogenic influences; it occurs as part of a syndrome, or due to heterozygous mutations in 1 of over 10 HPE-associated genes. ZIC2 mutations are the second-most common cause of non-syndromic non-chromosomal HPE (after sonic hedgehog) and occur de novo in 74% of the affected probands. The objective of the study was to describe the first case of ZIC2-related HPE with both anterior and posterior pituitary insufficiencies. We report about a 2-year-8-month-old boy who was born as a second child in a non-consanguineous healthy Turkish family. He has the characteristic ZIC2 phenotype: bitemporal narrowing, upslanting palpebral fissures, large ears, short nose with anteverted nares and broad and deep philtrum. Magnetic resonance imaging revealed alobar HPE. During laboratory investigation, his blood sodium level was 158 mmol/L and the specific gravity of his urine was 1.002. Serum osmolarity was 336 mOsm/L and urine osmolality was 135 mOsm/kg. His FT4 was 0.8 ng/dL and TSH was 0.79 mLU/mL. Response to vasopressin confirmed the diagnosis of central diabetes insipidus and TRH-stimulating test supported the central hypothyroidism. A frameshift mutation (NM_007129.2:c1091_1092 del, p.Gln364Leufs*2) in the ZIC2 gene was detected. Pituitary insufficiency other than isolated diabetes insipidus is a rare finding of HPE, and occurs most frequently in patients with GLI2 mutations (the phenotype of which typically does not include frank neuroanatomic anomalies such as HPE); ours is the only described patient with a ZIC2 mutation and both anterior and posterior pituitary dysfunction.

  11. Interpreting the corneal response to oxygen: Is there a basis for re-evaluating data from gas-goggle studies?

    PubMed

    Papas, Eric B; Sweeney, Deborah F

    2016-10-01

    When anoxia (0% oxygen) is created within a gas-tight goggle, ocular physiological responses, including corneal swelling, limbal hyperaemia and pH change, are known to vary, depending on the presence or absence of a low, oxygen transmissibility contact lens. A new theory is proposed to account for this discrepancy based on the concept of lid derived oxygen, whereby oxygen originating from the vascular plexus of the palpebral conjunctiva supplements that available to the ocular surface in an open, normally blinking eye, even when the surrounding gaseous atmosphere is anoxic. The effect of a lid derived contribution to corneal oxygenation was assessed by using existing experimental data to model open-eye, corneal swelling behavior as a function of atmospheric oxygen content, both with and without the presence of a contact lens. These models predict that under atmospheric anoxia, contact lens wear results in 13.2% corneal swelling compared with only 5.4% when the lens was absent. Lid derived oxygen acts to provide the ocular surface in the non-contact lens wearing, normally blinking, open-eye with up to 4.7% equivalent oxygen concentration, even within the anoxic environment of a nitrogen filled goggle. Correcting for lid derived oxygen eliminates previously observed discrepancies in corneal swelling behavior and harmonizes the models for the contact lens wearing and gas-goggle cases. On this basis it is proposed that true anoxia at the ocular surface cannot be achieved by atmospheric manipulation (i.e. a gas-goggle) alone but requires an additional presence, e.g. a low, oxygen transmissibility contact lens, to prevent access to oxygen from the eyelids. Data from previously conducted experiments in which the gas-goggle paradigm was used, may have been founded on underestimates of the real oxygen concentration acting on the ocular surface at the time and if so, will require re-interpretation. Future work in this area should consider if a correction for lid derived

  12. Immobilization of wild giant panda (Ailuropoda melanoleuca) with dexmedetomidine-tiletamine-zolazepam.

    PubMed

    Jin, Yipeng; Qiao, Yanchao; Liu, Xiaobin; Pu, Tianchun; Xu, Hongqian; Lin, Degui

    2016-05-01

    To assess the effects and utility of dexmedetomidine combined with tiletamine and zolazepam (dexMTZ) to immobilize the wild giant panda. Prospective clinical study. Seven giant pandas (Ailuropoda melanoleuca), five males and two females, aged 7-20 years and weighing 69.2-132.9 kg. Once an animal was located, prior data on the individual was reviewed and the panda's previously estimated body weight was used to calculate the volumes of drugs to administer: dexmedetomidine (dexM; 8 μg kg(-1) ; 0.5 mg mL(-1) ) and tiletamine-zolazepam (TZ; 2 mg kg(-1) ; 50 mg mL(-1) ). The mixture was injected intramuscularly (IM) using the Dan-Inject pistol system. When the panda was immobilized, it was weighed, a physical examination was performed and a blood sample collected. Every 5 minutes, the heart rate (HR), respiratory rate (fR ), rectal temperature (T), noninvasive systolic arterial pressure (SAP), capillary refill time (CRT), mucous membrane color and pulse quality were recorded. After all procedures had been completed, atipamezole (40 μg kg(-1) ) was injected IM. A single injection of dexMTZ resulted in the immobilization of all seven giant pandas. The median (range) of anesthetic agents administered was dexM 8.4 μg kg(-1) (7.3-10.5 μg kg(-1) ) and TZ 2.0 mg kg(-1) (1.8-2.5 mg kg(-1) ). The palpebral reflex was lost 8 (7-12) minutes after the injection. Most of the physiological variables remained in the acceptable range. All procedures were completed in approximately 1 hour. Six out of the seven (85.7%) giant pandas recovered smoothly; one panda had a rough recovery. DexMTZ produced a satisfactory immobilization and a smooth recovery for wild giant pandas while allowing approximately 55 minutes for planned noninvasive procedures. © 2015 Association of Veterinary Anaesthetists and the American College of Veterinary Anesthesia and Analgesia.

  13. Ophthalmic diagnostic tests in captive red-footed tortoises (Chelonoidis carbonaria) in Salvador, northeast Brazil.

    PubMed

    Oriá, Arianne P; Silva, Renata M Monção; Pinna, Melissa H; Oliveira, Alberto Vinícius D; Ferreira, Paulo Roberto B; Martins Filho, Emanoel F; Meneses, Iris Daniela S; Requião, Kátia G; Ofri, Ron

    2015-01-01

    The aim of this study was to establish normal ophthalmic parameters for select diagnostic tests in red-footed tortoises (Chelonoides carbonaria). A total of 52 animals, approximately 20-30 years old, were studied. Ophthalmic diagnostic tests included culturing of the normal conjunctival bacterial flora in summer and winter, evaluation of tear production using Schirmer tear test (STT) and endodontic absorbent paper point tear test in two different environmental temperatures (EAPPTT-1 at 32 °C and EAPPTT-2 at 18 °C), cytology of conjunctival cells, B-mode ultrasonography, measurement of palpebral fissure length (PFL), and applanation tonometry (in two different positions). In both seasons, Gram-positive bacteria were predominant. Median (± IQR/2) STT was 12.0 ± 3.5 mm/min, EAPPTT-1 was 15.9 ± 0.7 mm/15 s, and EAPPTT-2 was 15.4 ± 0.4 mm/min (OD) and 17.8 ± 1.0 mm/min (OS). Anterior chamber depth was 1.0 ± 0.1 mm, lens axial length was 2.3 ± 0.1 mm, vitreous chamber depth was 4.3 ± 0.2 mm, and axial globe length was 7.7 ± 0.3 mm. PFL was 11.7 ± 1.7 mm. Intraocular pressure was 11.5 ± 2.8 mmHg for males and 14.0 ± 3.5 mmHg for females (dorsoventral position) and 18.0 ± 3.2 mmHg for males and 24.1 ± 3.0 mmHg for females (ventrodorsal position with inclination of 45°). The ophthalmic parameters reported here can aid in the diagnosis of eye diseases in red-footed tortoises (Chelonoides carbonaria). © 2014 American College of Veterinary Ophthalmologists.

  14. Ocular Distribution and Pharmacokinetics of Lifitegrast in Pigmented Rabbits and Mass Balance in Beagle Dogs.

    PubMed

    Chung, Jou-Ku; Spencer, Elizabeth; Hunt, Matthew; McCauley, Thomas; Welty, Devin

    Lifitegrast is approved in the United States for the treatment of dry eye disease (DED). We assessed lifitegrast's ocular distribution/pharmacokinetic profile in rabbits, and 14 C-lifitegrast mass balance/excretion in dogs. Female pigmented rabbits received a single topical ocular dose of lifitegrast (Formulation No. 1, n = 25; No. 2, n = 25) per eye twice daily (target, 1.75 mg/eye/dose). Blood/ocular tissues were collected on day 5. Beagle dogs received single intravenous (n = 10; target, 3 mg, 262 μCi/animal) and ocular (n = 8, target, 3 mg, 30 μCi/eye) doses of 14 C-lifitegrast (∼8 weeks between doses). Blood, excreta, and cage rinse/wipes were collected. Concentrations were measured by mass spectrometry/liquid scintillation counting. Pharmacokinetic analyses (noncompartmental) included maximum concentration (C max ), time to C max (t max ), and area under the concentration-time curve from 0 to 8 h (AUC 0-8 ). In rabbits, lifitegrast C max and AUC 0-8 were similar between formulations. C max was highest in ocular anterior segment tissues: 5,190-14,200 ng/g [conjunctiva (palpebral/bulbar), cornea, anterior sclera]. Posterior segment tissues had lower concentrations (0-826 ng/g). AUC 0-8 followed a similar trend. Plasma concentrations were low (C max <18 ng/mL). Tissue/plasma t max was ∼0.25-1 h. In dogs, after intravenous/ocular doses, 14 C-lifitegrast was eliminated primarily through feces. Excreted radioactivity was mainly unchanged lifitegrast. High exposure of lifitegrast in rabbit ocular anterior segment tissues and low exposure in posterior segment tissues/plasma suggests that lifitegrast reaches target tissues for DED treatment, with low potential for off-target systemic/ocular effects. Excretion of unchanged 14 C-lifitegrast suggests minimal drug metabolism in vivo. This is consistent with lifitegrast clinical trial efficacy/safety data.

  15. [Ocular dirofilariasis: a case report].

    PubMed

    Janjetović, Zeljka; Arar, Zeljka Vuković; Paradzik, Maja Tomić; Sapina, Lidija; Bitunjac, Milan; Lojen, Gordana; Marinculić, Albert

    2010-03-01

    A case of ocular dirofilariasis in a female patient is presented. The zoonosis caused by parasites of the genus Dirofilaria is relatively rare in humans, with a higher incidence in south and central Europe, Asia and Africa. In Europe, dirofilariasis is mostly caused by the species Dirofilaria repens. In the past 50 years, the number of individuals involved has been on an increase, with about 780 cases reported in the literature to date. Dirofilaria is a parasite found in the dog, cat, racoon and bear. The parasite replicates in the animal's body and enters circulation in the form of microfilariae. These microfilariae reach the insect's digestive tract and are transmitted to another animal or human with subsequent mosquito bites. When transmitted to humans, the parasite is found in the skin and subcutaneous tissue, mucous membranes, and less frequently visceral organs. Concerning ocular involvement, infections of the eye and adnexa oculi and tumorous noninfectious growth of eyelid or orbit have been described to date. The symptoms of the disease vary and include local pain, proptosis, diplopia, palpebral and conjunctival edema, redness, feeling of foreign body, and impaired vision. The diagnosis is generally made by histologic identification of the parasite micro- and macroscopic characteristics, Dirofilaria DNA analysis by the method of polymerase chain reaction, and serology (ELISA) demonstrating the presence of Dirofilaria antibodies in serum. Treatment includes surgical excision of the parasite as an appropriate and efficient therapeutic procedure. A 76-old-female patient presented to outpatient ophthalmology clinic for occasional sensation of pain, rubbing and redness in her right eye. Initial therapy was introduced, resulting in short-lasting improvement. In two weeks, the patient was re-examined for recurrence of discomforts. Slit lamp examination performed temporally revealed a whitish motile, live parasite under the injected and chemotic bulbar conjunctiva

  16. A Novel Supra-Brow Combined with Infra-Brow Lift Approach for Asian Women.

    PubMed

    Shu, Maoguo; He, Lin; Su, Yingjun; Shi, Junli; Zhang, Xi; Liu, Xiangyu; Yu, Xueyuan

    2016-06-01

    Direct brow lift surgery remains popular among Asian women despite its disadvantages. The traditional direct brow lift by a supra-brow incision is not suitable for Asian women because of their unique facial features, such as higher eyebrows, wider upper eyelids, and more orbital fat. Therefore, we designed a novel brow lift technique via a supra-brow combined with an infra-brow approach for Asian women. An area of skin above and below the eyebrow was measured, demarcated, and surgically removed. The redundant orbicularis oculi muscle (OOM) was excised while keeping the frontalis muscle intact. The OOM in the inferior flap was elevated and sutured to the frontalis muscle. In cases of puffy eyelids, orbital fat was partially removed through an infra-brow incision. Finally, a series of modifications were performed to reduce post-operative scarring. A total of 496 patients underwent this surgery from July 2009 to December 2013 and 432 patients were followed up for at least 6 months after surgery. Post-operative scars, in most patients (428/432), were inconspicuous. There were no facial nerve injuries documented and eight patients reported transient forehead numbness. The height of the palpebral fissure was increased but there was no marked increase observed of the distance between the upper eyelid edge and the eyebrow. In follow-up visits, 409 out of 432 patients (94.7 %) were satisfied with their surgical results. This new brow lift technique via a supra-brow combined with an infra-brow approach provided a simple and safe surgical repair of lateral brow ptosis, upper eyelids hooding, and crows' feet in Asian women. The surgical outcomes were predictable and the scars were inconspicuous. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

  17. Post-marketing safety monitoring of shenqifuzheng injection: a solution made of dangshen (Radix Codonopsis) and huangqi (Radix Astragali Mongolici).

    PubMed

    Ai, Qinghua; Zhang, Wen; Xie, Yanming; Huang, Wenhua; Liang, Hong; Cao, Hui

    2014-08-01

    To identify the potential risk factors associated with Shenqifuzheng injection (SFI), a solution made of Dangshen (Radix Codonopsis) and Huangqi (Radix Astragali Mongolici), for the timely provision of information to regulatory authorities. A comprehensive analysis of the production process, quality standards, pharmacology, post-marketing clinical studies, and safety evaluation using the primary literature of adverse reactions (ADR), case analyses, and systematic reviews, intensive hospital safety monitoring of post-marketing drugs, and data provided by the hospital information system (HIS). Sub-acute toxicity tests suggesting that a dose of 15 mL/kg (concentrated solution) had specific biological effects, whereas a smaller dose engendered no observable effects. Long-term toxicity testing in domestic rabbits showed that after SFI was administered for 90 days, the animals in each dosing group showed no chronic toxic reactions. Among 20 100 cases observed, the incidence of an ADR was 1.85 per thousand. From March to November 2013, of the leading institutions and 22 sub-centers involved in the post-marketing clinical safety intensive hospital monitoring, 21 units completed 8484 cases of monitoring, and reported 23 cases of adverse reactions. No damage to renal function was found using SFI at a dosage and a treatment course larger and longer than that recommended for the adjuvant treatment of tumors. This could reduce the mortality rate of admitted patients based on the analysis of the data provided by the HIS. A total of 16 clinical case reports of adverse reactions related to SFI in 1999-2012 were obtained through literature retrieval. These reports contained information concerning 17 cases, with adverse reaction symptoms including thrombocytopenia, rash, chills, feeling cold, palpitation, dyspnea, edema of a lower extremity, palpebral edema, and superficial vein inflammation, among others. This study introduces "get full access" to the flow of information on

  18. Validation of the FAMACHA© system in South American camelids.

    PubMed

    Storey, Bobby E; Williamson, Lisa H; Howell, Sue B; Terrill, Thomas H; Berghaus, Roy; Vidyashankar, Anand N; Kaplan, Ray M

    2017-08-30

    Haemonchus contortus resistant to multiple anthelmintics threaten the viability of the small ruminant industry in areas where this parasite is prevalent. In response to this situation, the FAMACHA© system was developed and validated for use with small ruminants as a way to detect clinical anemia associated with haemonchosis. Given that H. contortus and multiple anthelmintic resistance is a similar problem in camelids, the FAMACHA© system might also provide the same benefits. To address this need, a validation study of the FAMACHA© system was conducted on 21 alpaca and llama farms over a 2-year period. H. contortus was the predominant nematode parasite on 17 of the 21 farms (10 alpaca and 7 llama farms) enrolled in the study, based on fecal culture results. The FAMACHA© card was used to score the color of the lower palpebral (lower eye lid) conjunctiva on a 1-5 scale. Packed cell volume (PCV) values were measured and compared to FAMACHA© scores using FAMACHA© score cutoffs of ≥3 or ≥4 and with anemia defined as a PCV ≤15%, ≤17%, or≤20%. PCV was significantly associated with FAMACHA© score, fecal egg count (FEC), and body condition score (BCS), regardless of the FAMACHA© cutoff score or the PCV% chosen to define clinical anemia (p<0.01 in all cases). The use of FAMACHA© scores ≥3 and PCV ≥ 15% indicating anemia provided the best sensitivity (96.4% vs 92.9% for FAMACHA© ≥4), whereas FAMACHA scores ≥ 4 and PCV ≤20% provided the best specificity (94.2% vs 69.1% for FAMACHA© ≥3). The data from this study support the FAMACHA© system as a useful tool for detecting clinical anemia in camelids suffering from haemonchosis. Parameters for making treatment decisions based on FAMACHA© score in camelids should mirror those established for small ruminants. Copyright © 2017 Elsevier B.V. All rights reserved.

  19. Clinical Severity Classification using Automated Conjunctival Hyperemia Analysis Software in Patients with Superior Limbic Keratoconjunctivitis.

    PubMed

    Kurita, Junki; Shoji, Jun; Inada, Noriko; Yoneda, Tsuyoshi; Sumi, Tamaki; Kobayashi, Masahiko; Hoshikawa, Yasuhiro; Fukushima, Atsuki; Yamagami, Satoru

    2018-06-01

    Digitization of clinical observation is necessary for assessing the severity of superior limbic keratoconjunctivitis (SLK). This study aimed to use a novel quantitative marker to examine hyperemia in patients with SLK. We included six eyes of six patients with both dry eye disease and SLK (SLK group) and eight eyes of eight patients with Sjögren syndrome (SS group). We simultaneously obtained the objective finding scores by using slit-lamp examination and calculated the superior hyperemia index (SHI) with an automated conjunctival hyperemia analysis software by using photographs of the anterior segment. Three objective finding scores, including papillary formation of the superior palpebral conjunctiva, superior limbal hyperemia and swelling, and superior corneal epitheliopathy, were determined. The SHI was calculated as the superior/temporal ratio of bulbar conjunctival hyperemia by using the software. Fisher's exact test was used to compare a high SHI (≥1.07) ratio between the SLK and SS groups. P-Values < 0.05 were considered statistically significant. The SHI (mean ± standard deviation) in the SLK and SS groups was 1.19 ± 0.50 and 0.69 ± 0.24, respectively. The number of patients with a high SHI (≥1.07) was significantly higher in the SLK group than in the SS group (p < 0.05). The sensitivity and specificity of the SHI in the differential diagnosis between SS and SLK were 66.7% and 87.5%, respectively. An analysis of the association between the objective finding scores and SHI showed that the SHI had a tendency to indicate the severity of superior limbal hyperemia and swelling score in the SLK group. The SHI calculated using the automated conjunctival hyperemia analysis software could successfully quantify superior bulbar conjunctival hyperemia and may be a useful tool for the differential diagnosis between SS and SLK and for the quantitative follow-up of patients with SLK.

  20. A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation.

    PubMed

    Chen, Chih-Ping; Lin, Shuan-Pei; Chern, Schu-Rern; Wu, Peih-Shan; Su, Jun-Wei; Lee, Chen-Chi; Wang, Wayseen

    2014-03-01

    To present an array comparative genomic hybridization (aCGH) characterization of a 12p11.22-p11.21 microdeletion and 22q11.2 microduplication in an adolescent girl with autism, mental retardation, facial dysmorphism, microcephaly, behavior problems, and an apparently balanced reciprocal translocation of t(8;12)(q24.3;p11.2). A 13-year-old girl was referred to the hospital because of autism, mental retardation, and difficulty in the self-care of her menstruation. Cytogenetic analysis revealed an apparently balanced reciprocal translocation and a karyotype of 46,XX,t(8;12) (q24.3;p11.2)dn. The girl manifested microcephaly, hypertelorism, flat facial profile, prominent forehead, thick scalp hair, upslanting palpebral fissures, broad nasal bridge, bulbous nose, right simian crease, bilateral clinodactyly of the fifth fingers, bilateral pes cavus, learning difficulties, mental retardation, emotional instability, cognitive impairment, behavior problems, jumping-like gaits, and autistic spectrum disorder. aCGH was performed to evaluate genomic imbalance in this patient. aCGH analysis revealed a 1.37-Mb 12p11.22-p11.21 microdeletion or arr [hg 19] 12p11.22-p11.21 (30,645,008-32,014,774)×1 and a 367-kb 22q11.21 microduplication or arr [hg 19] 22q11.21 (18,657,470-19,024,306)×3. The 1.37-Mb 12p11.22-p11.21 microdeletion encompassed 26 genes including IPO8, CAPRIN2, and DDX11, and the 367-kb 22q11.21 microduplication encompassed 20 genes including USP18, DGCR6, PRODH, and DGCR2. An apparently balanced translocation may be in fact affected by concurrent deletion and duplication in two different chromosomal regions. Our presentation provides information on diagnostic phenotype of 12p11.22-p11.21 microdeletion and 22q11.2 microduplication. Copyright © 2014. Published by Elsevier B.V.

  1. [Newborn hearing screening program: association between hearing loss and risk factors].

    PubMed

    Pereira, Priscila Karla Santana; Martins, Adriana de Souza; Vieira, Márcia Ribeiro; Azevedo, Marisa Frasson de

    2007-01-01

    Hearing loss in newborns. To verify the prevalence of auditory alterations in newborns of Hospital São Paulo (hospital), observing if there are any correlations with the following variables: birth weight, gestational age, relation weight/gestational age and risk factors for hearing loss. A retrospective analysis of the hospital records of 1696 newborns; 648 records of preterm infants and 1048 records of infants born at term. All of the infants had been submitted to an auditory evaluation consisting of: Transient Otoacoustic Emissions, investigation of the cochleal-palpebral reflexes and acoustic imittance tests, identifying the type and level of hearing loss. Sensorineural hearing loss was identified in .82% of the infants who were born at term and in 3.1% of the preterm infants -- with a statistically significant difference. Conductive hearing loss was the most frequent type of hearing loss in both groups, occurring in 14.6% of the term infants and in 16.3% of the preterm infants. Alteration of the central auditory system was considered as a possible diagnosis for 5.8% of the preterm infants and for 3.3% of the term infants. For the group of infants who were born at term, a significant correlation was observed between failure in the hearing screening test and the presence of risk factors such as family history and presence of a syndrome -- the child who presented a syndrome had 37 times more chances of failing in the hearing screening test and seven times more chances of failing in the right ear when there was a family history for hearing loss. The lower the gestational age (< 30 weeks) and birth weight (< 1500 g), the higher the chances of failing in the hearing screening test (3 times more). Hearing loss had a higher occurrence in preterm infants who remained in the ICU. Gestational age and birth weight were important variables related to the possibility of failure in the hearing screening test. A correlation was observed between the presence of a syndrome and

  2. Specific IgE in tear fluid and features of allergic conjunctivitis.

    PubMed

    Mimura, Tatsuya; Yamagami, Satoru; Kamei, Yuko; Goto, Mari; Matsubara, Masao

    2013-09-01

    The level of specific class E immunoglobulins (IgE) in tear fluid is a useful diagnostic indicator for allergic conjunctivitis, but it is still unclear whether the measurement of tear fluid IgE is helpful for assessing the severity of allergic conjunctivitis. In this study, we evaluated the relation between tear fluid levels of specific IgE and features of allergic conjunctivitis. A prospective, nonrandomized, cross-sectional study was conducted in patients with allergic conjunctivitis (n = 55, allergic group) and age- and sex-matched healthy control subjects (n = 50, control group). Levels of specific IgE for cedar pollen, cat epithelium/dander and Dermatophagoides pteronyssinus were measured in tear fluid with the Immfast Check J1®. A severity score (0, 1, 2 or 3) was assigned for various changes of the palpebral and bulbar conjunctiva, as well as for limbal and corneal lesions. The levels of specific IgE for both cedar pollen, and D. pteronyssinus were significantly higher in the allergic group compared with the control group (p < 0.0001), while the level of specific IgE for cat epithelium/dander showed no significant difference between the two groups (p = 0.0777). When IgE levels were divided into four classes, the classes for both D. Pteronyssinus and cat epithelium/dander IgE were correlated with four features of allergic conjunctivitis. On the other hand, no correlation was found between the class of cedar pollen IgE and any of the features of allergic conjunctivitis. This study demonstrated that measurement of specific IgE in tear fluid may be useful for determining the severity of allergic conjunctivitis induced by indoor allergens. Although measurement of IgE in tear fluid is only a supplemental tool for evaluating the clinical activity of allergic conjunctivitis, the test can be useful for detecting specific IgE antibodies responsible for this condition.

  3. Percepção astronómica de um grupo de alunos do ensino médio de uma escola da rede estadual de São Paulo

    NASA Astrophysics Data System (ADS)

    de Oliveria, E. F.; Voelzke, M. R.

    2009-03-01

    Sendo a Astronomia uma das cièncias mais antigas da humanidade, e considerando sua importáncia histórica e cultural, é de extrema releváncia que tópicos relacionados a ela sejam tratados nas escolas. Embora os Parámetros Curriculares Nacionais do Ensino Médio (PCN-EM) e as Orientaçiacute;es Complementares aos Parámetros (PCN+) apontem a importáncia de uma abordagem significativa de conceitos relacionados à Astronomia nas aulas de Física, muitos estudantes terminam o Ensino Médio (EM) sem compreender a razão de certos acontecimentos de origem celeste, ainda que estes façam parte de seu cotidiano e sejam alvos da curiosidade natural dos jovens. Da observação dessa curiosidade em alunos de uma escola pública paulista, na cidade de Suzano, surgiu o interesse em investigar os conhecimentos básicos em Astronomia dos alunos do Ensino Médio desta escola, constituindo-se este como principal objetivo desta pesquisa. Para tanto foi elaborado um questionário de múltipla escolha aplicado inicialmente a 34 alunos do primeiro ano e, posteriormente, a mais 310, distribuídos entre as très séries do Ensino Médio dos períodos matutino e noturno. Dessa forma, observou-se que 73,9% dos estudantes identificaram o Sol como sendo uma estrela, 67,1% mostraram compreender a sucessão entre dia e noite e 52,3% relacionaram o Big Bang à origem do Universo. Em contrapartida, apenas 34,5% relacionaram as estaçíes do ano à inclinação do eixo de rotação da Terra, 21,3% indicaram a influència gravitacional simultánea da Lua e do Sol como responsável pelo fenòmeno das marés, 24,5% indicaram corretamente quais são os objetos celestes mais próximos da Terra, 36,1% identificaram ano-luz como uma medida de distáncia e 34,2% reconheceram as estrelas cadentes como meteoros, evidenciando-se assim o pequeno discernimento dos estudantes quanto aos fenòmenos e termos astronòmicos do cotidiano. Além disso, foram comparadas as respostas de alun! os de diferentes s

  4. An Analytical Overview of Spirituality in NANDA-I Taxonomies.

    PubMed

    Mesquita, Ana Cláudia; Caldeira, Sílvia; Chaves, Erika; Carvalho, Emilia Campos de

    2017-03-01

    To discuss the approach of spirituality in NANDA-I taxonomies, based on the elements that characterize this phenomenon. This study was based on concepts that are usually adopted in the literature for defining spirituality and on the analysis of the NANDA-I taxonomies from I to III. Spirituality is included in all taxonomies but all three are missing some attributes to guarantee the completeness of this dimension for nursing diagnosis. Taxonomy III makes different approaches to spirituality and some inconsistencies. Contribute to the development and review of the new proposal for taxonomy. Discutir a abordagem à espiritualidade nas taxonomias da NANDA-I, baseada nos elementos que caracterizam este fenômeno. MÉTODOS: Este estudo foi baseado em conceitos usualmente adotados na literatura de enfermagem para definir espiritualidade e na análise das taxonomias da NANDA-I, desde a I à III. A espiritualidade está incluída nas taxonomias, porém estas carecem de atributos do seu conceito. CONCLUSÕES: A taxonomia III faz diferentes abordagens à espiritualidade, porém com algumas inconsistências identificadas. IMPLICAÇÕES PARA A ENFERMAGEM: Esta análise pode contribuir para o desenvolvimento e revisão da taxonomia III. © 2017 NANDA International, Inc.

  5. Clinical outcomes of individualized botulinum neurotoxin type A injection techniques in patients with essential blepharospasm.

    PubMed

    Sung, Youngje; Nam, Sang Min; Lew, Helen

    2015-04-01

    To assess the clinical outcomes following botulinum neurotoxin type A (BoNT-A) treatment with an individualized injection technique based on the types of spasms and to compare the results of the individualized injection technique with those of the conventional injection technique in the same patients. From November 2011 to July 2013, 77 BoNT-A injections were performed in 38 patients. Eighteen patients were treated with conventional BoNT-A injections before 2011, and 20 patients were referred to our hospital for unsatisfactory results after a conventional injection technique. We classified the patients by spasm-dominant sites: the lateral orbital area, representing the orbital orbicularis-dominant group (ODG); the glabella, representing the corrugator-dominant group (CDG); and the ptosis, representing the palpebral part of the orbicularis-dominant group (PDG). We increased the injection dose into the spasm-dominant sites of the blepharospasm groups. We assessed subjective symptom scores (functional disability score, FDS) after treatment. This study included 38 patients (26 women, 12 men; mean age, 60.6 ± 10.9 years). There were 21 patients in the ODG, 10 patients in the CDG, and 7 patients in the PDG. Mean ages were 59.7 ± 12.6, 59.8 ± 8.5, and 66.8 ± 9.0 years, and mean BoNT-A injection dose was 38.8 ± 11.2, 38.8 ± 11.2, and 38.8 ± 10.8 U in each group, respectively (p = 0.44, 0.82 Kruskal-Wallis test). Mean FDS after injection was 1.7 ± 0.7 in the ODG, 1.4 ± 0.8 in the CDG, and 1.2 ± 0.3 in the PDG. There were significant differences in reading and job scale among the three groups. In a comparison between the conventional and individualized injection techniques, there was a significant improvement in mean FDS and in the reading scale in the PDG with the individualized injection technique. The success rate was 92.1% in the conventional injection group and 94.1% in the individualized injection group. The individualized injection technique of Bo

  6. Construction and validation of a decision tree for treating metabolic acidosis in calves with neonatal diarrhea.

    PubMed

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

    2012-12-06

    marked D-lactic acidosis. In those calves, determining the degree of loss of the palpebral reflex was identified as a useful decision criterion to provide an additional amount of 250 mmol sodium bicarbonate. This work demonstrates the clinical relevance of the discovery that D-lactate is responsible for most of the clinical signs expressed in neonatal diarrheic calves suffering from metabolic acidosis.

  7. 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

  8. INFRARED- BASED BLINK DETECTING GLASSES FOR FACIAL PACING: TOWARDS A BIONIC BLINK

    PubMed Central

    Frigerio, Alice; Hadlock, Tessa A; Murray, Elizabeth H; Heaton, James T

    2015-01-01

    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 towards 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 Standard safety glasses were equipped with an infrared (IR) emitter/detector pair oriented horizontally across the palpebral fissure, creating a monitored IR beam that became interrupted when the eyelids closed. SETTING Tertiary care Facial Nerve Center. PARTICIPANTS 24 healthy volunteers. MAIN OUTCOME MEASURE 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 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 lid movements. During forward gaze, 87% of detected blink events were true positives, 11% were false positives, and 2% false negatives. Of the 11% false positives, 6% were associated with partial eyelid closures. During gaze changes, false blink detection occurred 6.3% of the time during lateral eye movements, 10.4% during upward movements, 46.5% during downward movements, and 5.6% for movements from an upward or downward gaze back to the primary gaze. Facial expressions disrupted sensor output if they caused substantial squinting or shifted the glasses. CONCLUSION

  9. Indicators used in livestock to assess unconsciousness after stunning: a review.

    PubMed

    Verhoeven, M T W; Gerritzen, M A; Hellebrekers, L J; Kemp, B

    2015-02-01

    Assessing unconsciousness is important to safeguard animal welfare shortly after stunning at the slaughter plant. Indicators that can be visually evaluated are most often used when assessing unconsciousness, as they can be easily applied in slaughter plants. These indicators include reflexes originating from the brain stem (e.g. eye reflexes) or from the spinal cord (e.g. pedal reflex) and behavioural indicators such as loss of posture, vocalisations and rhythmic breathing. When physically stunning an animal, for example, captive bolt, most important indicators looked at are posture, righting reflex, rhythmic breathing and the corneal or palpebral reflex that should all be absent if the animal is unconscious. Spinal reflexes are difficult as a measure of unconsciousness with this type of stunning, as they may occur more vigorous. For stunning methods that do not physically destroy the brain, for example, electrical and gas stunning, most important indicators looked at are posture, righting reflex, natural blinking response, rhythmic breathing, vocalisations and focused eye movement that should all be absent if the animal is unconscious. Brain stem reflexes such as the cornea reflex are difficult as measures of unconsciousness in electrically stunned animals, as they may reflect residual brain stem activity and not necessarily consciousness. Under commercial conditions, none of the indicators mentioned above should be used as a single indicator to determine unconsciousness after stunning. Multiple indicators should be used to determine unconsciousness and sufficient time should be left for the animal to die following exsanguination before starting invasive dressing procedures such as scalding or skinning. The recording and subsequent assessment of brain activity, as presented in an electroencephalogram (EEG), is considered the most objective way to assess unconsciousness compared with reflexes and behavioural indicators, but is only applied in experimental set

  10. A definitive diagnosis of mucosa-associated lymphoid tissue lymphoma made at a second biopsy.

    PubMed

    Igarashi, Tsutomu; Shimizu, Akira; Yamaguchi, Hiroki; Fukushima, Yoshimitsu; Igarashi, Toru; Takahashi, Hiroshi

    2013-01-01

    A case of mucosa-associated lymphoid tissue (MALT) lymphoma, the most frequent of the various conjunctival lymphoproliferative disorders, in which the initial biopsy was inconclusive but the second biopsy provided a definitive diagnosis, is reported. A 26-year-old woman with a 3-month history of bilateral conjunctival swelling was referred by a local physician for suspected MALT lymphoma. A salmon-pink elastic swelling was found to involve both eyes and to extend from the lower palpebral conjunctiva to the bulbar conjunctiva. Tonsillar swelling was also found, and ophthalmologic (left eye) and otolaryngologic biopsies were therefore performed simultaneously under general anesthesia. The otolaryngologic diagnosis was chronic tonsillitis. Light microscope examination of the conjunctival tissue showed proliferation of lymphocytes and small aggregates of small to medium-sized atypical lymphocytes. On immunohistochemical studies, atypical lymphocytes were positive for CD20 and CD79a, but differentiation to plasmacytes was not prominent, and neither Dutcher bodies nor evidence of immunoglobulin light chain restriction was found. The results were not incompatible with MALT lymphoma but were not definitive. A second biopsy of the right eye was therefore performed 3 months later. Staining with hematoxylin and eosin showed proliferation of small lymphocytes and monocytoid B cells and differentiation to plasmacytes. The hyperplastic cells were positive for CD19, CD79a, and CD20, and their cytoplasm were positive for Bcl-2 and slightly positive for Bcl-6. Cells positive for CD38 were noted where differentiation to plasmacytes and immunoglobulin light chain κ restriction was evident on immunohistochemical studies and in situ hybridization. The Ki-67-positivity rate was approximately 5%. The results of paraffin-embedded tissue section fluorescence in situ hybridization were negative for MALT-1 (18q21). A diagnosis of MALT lymphoma was made, and treatment with rituximab was

  11. Cryotherapy for conjunctival primary acquired melanosis and malignant melanoma. Experience with 62 cases.

    PubMed

    Jakobiec, F A; Rini, F J; Fraunfelder, F T; Brownstein, S

    1988-08-01

    Sixty-two patients were treated by some combination of cryotherapy and surgery with an average follow-up of 3.3 years for one of the following diseases: focal or diffuse flat conjunctival primary acquired melanosis (PAM) with atypia but without a nodule of melanoma (10 cases); unifocal malignant melanoma with or without focal or diffuse PAM (30 cases); and multinodular/multicentric melanoma with and without PAM (22 cases). Of the ten patients who had PAM with atypia, invasive nodules of malignant melanoma did not develop. A second treatment was required to control the disease in four of the ten patients with extensive or diffuse lesions, and one has mild persistent disease. Of the 30 patients with unifocal nodules of malignant melanoma, 27 remained free of recurrence after one treatment, and 2 are asymptomatic after two treatments. One patient with a thick nodule at presentation required a parotidectomy and radical neck dissection for cervical metastases after recurrence in the conjunctival sac. In the group of 22 patients with multinodular malignant melanoma, only two did not have recurrent disease after one treatment. Of those who received multiple therapies, seven remained free of recurrence for at least 2 years after the last treatment; regional or distant metastases developed in nine; four required exenteration; and eight died. Conjunctival adjunctive cryotherapy avoids exenteration in extensive lesions of pure PAM and in unifocal melanoma, but even after multiple therapies, multinodular malignant melanoma had a 45% rate of metastasis. Metastasis was related to the presence of PAM sine pigmento in four patients (microscopically but not clinically detectable PAM); to the location of the nodules (9 of 10 patients who experienced metastases had forniceal, palpebral, and/or caruncular nodules); to the thickness or depth of invasion of the nodules (greater than 2 mm); and to the development of intralymphatic spread ("in-transit" local metastasis) within the

  12. Surgical correction of ectopic penis and scrotum associated with bilateral orchidopexy.

    PubMed

    Sobral, Daniel Santos Rocha; Silva, Helder Damásio da; Damázio, Eulálio

    2017-01-01

    Ectopic penis is usually associated with penoscrotal transposition, and it is rarely observed in isolation. We report a surgical approach for an extremely rare case. A 10-year-old male patient with bilateral cryptorchidism and ectopic penis and scrotum in perineal area, with no penoscrotal transposition, representing an association not yet described in literature. A previous orchiopexy failed due to ectopic scrotum. By means of an inverted Y incision, the penis was mobilized and a perineal skin flap in form of a testicular sac was prepared. Finally orchiopexy was performed. The surgery was essential to treat cryptorchidism and to improve the self-image of the patient. RESUMO O pênis ectópico geralmente ocorre associado à transposição peno-escrotal, sendo raro isoladamente. Relatamos uma abordagem cirúrgica para um caso extremamente raro. Tratava-se de paciente do sexo masculino, 10 anos, com criptorquidia bilateral e pênis e escroto ectópicos, na região perineal, sem transposição peno-escrotal, representando uma associação ainda não descrita na literatura. Orquidopexia prévia sem sucesso, devido à ectopia do escroto. Por meio de uma incisão em Y invertido, mobilizou-se o pênis e preparou-se um retalho da pele perineal em forma de bolsa testicular. Por fim, realizou-se a orquidopexia. A cirurgia foi fundamental para tratar a criptorquidia e promover ganho na autoimagem do paciente.

  13. Chronic intestinal pseudo-obstruction in a child with Treacher Collins syndrome.

    PubMed

    Giabicani, E; Lemale, J; Dainese, L; Boudjemaa, S; Coulomb, A; Tounian, P; Dubern, B

    2017-10-01

    Treacher Collins syndrome (TCS) mainly presents with severe craniofacial developmental abnormalities characterized by a combination of bilateral downward-slanting palpebral fissures, colobomas of the lower eyelids, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. It is due to mutations in Treacher Collins syndrome 1 (TCOF1) (5q32-q33.1) and Polymerase RNA 1 polypeptides D and C (POLR1D [13q12.2], and POLR1C [6p21.1]) genes, which are responsible for increased neuroepithelial apoptosis during embryogenesis resulting in the lack of neural crest cells involved in facial bone and cartilage formation. Altered function of the upper digestive tract has been reported, whereas severe dysmotility disorders have never been reported. We describe here the first case of TCS associated with histologically proven chronic intestinal pseudo-obstruction (CIPO) in humans. Case presentatios A 12-year-old boy with TCS due to TCOF1 gene deletion experienced nutritional difficulties and digestive intolerance from birth. CIPO was suspected during childhood because of severe intestinal dysmotility leading to enteral-jejunal nutrition intolerance and dependence on total parenteral nutrition. Diagnosis of CIPO with nervous abnormalities was histologically confirmed on a surgical rectal biopsy that showed enlarged ganglionic myenteric plexus. At the age of 9 years, an isolated colonic stenosis without dilatation responsible for severe abdominal pain and altered quality of life led to digestive derivation contributing to rapid disappearance of chronic abdominal pain. At the age of 12 years, the patient was still dependent on total home parenteral nutrition 7 days a week to maintain regular growth velocity. Recently, mice studies have pointed out the role played by TCOF1 in ganglionic cell migration in the foregut, suggesting that the synergistic haploinsufficiency of Tcof1 and Pax3, a

  14. Impact of duration of contact lens wear on the structure and function of the meibomian glands.

    PubMed

    Alghamdi, Waleed M; Markoulli, Maria; Holden, Brien A; Papas, Eric B

    2016-03-01

    To investigate the effects of the duration of contact lens (CL) wear on the meibomian glands (MGs), eyelid and tear film. This was a cross-sectional study of CL wearers and non-wearers (NWs) aged between 18 and 35 years. The sample comprised of: (i) Three groups of CL wearers of different duration profiles (short, moderate and long experience of CL wear); (ii) a group of previous CL wearers (PWs) who had ceased wear for at least 6 months prior to the present study; (iii) healthy non-wearers as a control group. Study procedures were conducted in the order from least invasive to most invasive as follows: symptom assessment, lipid assessment, non-invasive break-up time, tear meniscus area, tear osmolarity and evaporation, Phenol red thread, MG expressibility, ocular surface and eyelid assessments, meibography, Marx line and lid wiper assessment using lissamine green. For statistical comparison of continuous data, one-way analysis of variance was used with Bonferroni post-hoc correction, where appropriate. Kruskal-Wallis test and Pearson Chi-Square respectively were used for ordinal and categorical variables. A total of 100 participants (49 males and 51 females; mean age ± SD: 25.4 ± 4.1) were enrolled across the five groups, such that each was composed of 20 age/sex matched individuals. Significant differences between the study groups were found for MG expressibility (p < 0.001), number of plugged orifices (p = 0.001), number of expressed orifices (p < 0.001), MG dropout (p = 0.001), Marx line score (p < 0.001), palpebral redness (p = 0.003), and roughness (p = 0.002), non-invasive break-up time (p < 0.001), Phenol red thread (p = 0.005), and tear meniscus area (p = 0.029). For all these variables, the NW group was statistically different from all other groups. Duration of wear was not a significant factor, except for Marx line score which was different in PWs compared to those with longer experience of CL wear (p = 0.03) CONCLUSION: Alterations to MG morphology and

  15. Construction and validation of a decision tree for treating metabolic acidosis in calves with neonatal diarrhea

    PubMed Central

    2012-01-01

    sodium bicarbonate, if there is clinical evidence of a marked D-lactic acidosis. In those calves, determining the degree of loss of the palpebral reflex was identified as a useful decision criterion to provide an additional amount of 250 mmol sodium bicarbonate. This work demonstrates the clinical relevance of the discovery that D-lactate is responsible for most of the clinical signs expressed in neonatal diarrheic calves suffering from metabolic acidosis. PMID:23216654

  16. Evaluation of lipid oxidative stress status and inflammation in atopic ocular surface disease

    PubMed Central

    Wakamatsu, Tais H.; Ayako, Igarashi; Takano, Yoji; Matsumoto, Yukihiro; Ibrahim, Osama M.A.; Okada, Naoko; Satake, Yoshiyuki; Fukagawa, Kazumi; Shimazaki, Jun; Tsubota, Kazuo; Fujishima, Hiroshi

    2010-01-01

    Background Although the oxidative stress status in atopic skin disease has been reported to be elevated, there are still no studies related to the status of oxidative stress in atopic ocular surface disease. The purpose of this study was to evaluate the ocular surface lipid oxidative stress status and inflammation in atopic keratoconjunctivitis (AKC) patients and normal subjects. Methods Twenty eight eyes of 14 patients (9 males, 5 females) with AKC and 18 eyes of 9 age and sex matched (4 males and 5 females) normal healthy controls were examined in this prospective study. The severity of atopic dermatitis (AD) was scored by the SCORing Atopic Dermatitis (SCORAD) index. All subjects underwent Schirmer test, tear film break up time (BUT), fluorescein/Rose Bengal stainings, tear collection, and brush cytology from the upper palpebral conjunctiva. The brush cytology samples were stained with Diff-Quik for differentiation of inflammatory cells and immunohistochemistry (IHC) staining with HEL (hexanoyl-lysine) and 4-HNE (4-hydroxy-2-nonenal) to study lipid oxidation. HEL and cytokine (interleukin-4 (IL-4), interleukin-5 (IL-5), interleukin-10 (IL-10), tumor necrosis factor-alpha (TNF-α), interferon-gamma (IFN-γ)) levels were measured by enzyme-linked immunosorbent assay (ELISA) from tear samples of AKC patients and control subjects. Toluidine Blue and IHC staining with HEL, 4-HNE and cluster of differentiation 45 (CD45) were performed on papillary samples of AKC patients. This study was conducted in compliance with the “Declaration of Helsinki.” Results The tear stability and vital staining scores were significantly worse in eyes of AKC patients (p<0.05) compared to the controls. Inflammatory cells and positively stained conjunctival epithelial cells for HEL and 4-HNE showed a significant elevation in brush cytology samples of AKC patients. Significantly higher levels of HEL and cytokines were detected in tears of AKC patients compared to controls. Papillary

  17. The Aesthetic Analyzing of Midface Ratio After Folding Aponeurosis of Levator Palpebrae Superioris Muscle in the Ptosis Correction.

    PubMed

    Ji, Chenyang; Li, Ruiting; He, Wei; Zhang, Jinming

    2018-03-01

    in patients with upper lid ptosis, shortening the length between eyebrow and lower eyelid, and therefore harvesting a more appropriate and harmonious ratio of L1/ L2 according to the golden section theory. The changes in the proportion of midfacial aesthetics after operation could be used as a key point in the preoperative communication and postoperative effect evaluation, besides the size of palpebral fissure and corneal exposure rate.

  18. Fuzzy model to estimate the number of hospitalizations for asthma and pneumonia under the effects of air pollution.

    PubMed

    Chaves, Luciano Eustáquio; Nascimento, Luiz Fernando Costa; Rizol, Paloma Maria Silva Rocha

    2017-06-22

    Predict the number of hospitalizations for asthma and pneumonia associated with exposure to air pollutants in the city of São José dos Campos, São Paulo State. This is a computational model using fuzzy logic based on Mamdani's inference method. For the fuzzification of the input variables of particulate matter, ozone, sulfur dioxide and apparent temperature, we considered two relevancy functions for each variable with the linguistic approach: good and bad. For the output variable number of hospitalizations for asthma and pneumonia, we considered five relevancy functions: very low, low, medium, high and very high. DATASUS was our source for the number of hospitalizations in the year 2007 and the result provided by the model was correlated with the actual data of hospitalization with lag from zero to two days. The accuracy of the model was estimated by the ROC curve for each pollutant and in those lags. In the year of 2007, 1,710 hospitalizations by pneumonia and asthma were recorded in São José dos Campos, State of São Paulo, with a daily average of 4.9 hospitalizations (SD = 2.9). The model output data showed positive and significant correlation (r = 0.38) with the actual data; the accuracies evaluated for the model were higher for sulfur dioxide in lag 0 and 2 and for particulate matter in lag 1. Fuzzy modeling proved accurate for the pollutant exposure effects and hospitalization for pneumonia and asthma approach. Prever o número de internações por asma e pneumonia associadas à exposição a poluentes do ar no município em São José dos Campos, estado de São Paulo. Trata-se de um modelo computacional que utiliza a lógica fuzzy baseado na técnica de inferência de Mamdani. Para a fuzzificação das variáveis de entrada material particulado, ozônio, dióxido de enxofre e temperatura aparente foram consideradas duas funções de pertinência para cada variável com abordagem linguísticas: bom e ruim. Para a variável de saída número interna

  19. Evaluation of inter-day and inter-individual variability of tear peptide/protein profiles by MALDI-TOF MS analyses

    PubMed Central

    González, Nerea; Iloro, Ibon; Durán, Juan A.; Elortza, Félix

    2012-01-01

    Purpose To characterize the tear film peptidome and low molecular weight protein profiles of healthy control individuals, and to evaluate changes due to day-to-day and individual variation and tear collection methods, by using solid phase extraction coupled to matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) profiling. Methods The tear protein profiles of six healthy volunteers were analyzed over seven days and inter-day and inter-individual variability was evaluated. The bilaterality of tear film and the effect of tear collection methods on protein profiles were also analyzed in some of these patients. MALDI-TOF MS analyses were performed on tear samples purified by using a solid phase extraction (SPE) method based on C18 functionalized magnetic beads for peptide and low molecular weight protein enrichment, focusing spectra acquisition on the 1 to 20 kDa range. Spectra were analyzed using principal component analysis (PCA) with MultiExperiment Viewer (TMeV) software. Volunteers were examined in terms of tear production status (Schirmer I test), clinical assessment of palpebral lids and meibomian glands, and a subjective OSD questionnaire before tear collection by a glass micro-capillary. Results Analysis of peptides and proteins in the 1–20 kDa range showed no significant inter-day differences in tear samples collected from six healthy individuals during seven days of monitoring, but revealed subtle intrinsic inter-individual differences. Profile analyses of tears collected from the right and left eyes confirmed tear bilaterality in four healthy patients. The addition of physiologic serum for tear sample collection did not affect the peptide and small protein profiles with respect to the number of resolved peaks, but it did reduce the signal intensity of the peaks, and increased variability. Magnetic beads were found to be a suitable method for tear film purification for the profiling study. Conclusions No significant

  20. The efficacy and adverse effects of dicobalt edetate in cyanide poisoning.

    PubMed

    Marrs, Timothy Clive; Thompson, John Paul

    2016-09-01

    : Adverse effects reported have included hypertension, tachycardia, nausea, retrosternal pain, sweating, palpebral, facial and laryngeal oedema, vomiting, urticaria and/or a feeling of impending doom. Such effects appear to be more prevalent where the antidote has been administered without evidence of substantial systemic poisoning or where other antidotes have been used which might have been expected also to combine with cyanide. Although the adverse effects observed were doubtless unpleasant, and some were severe, no fatal reactions were found. Dicobalt edetate is an effective cyanide antidote when given to patients with systemic cyanide poisoning, but it has the potential to give rise to adverse reactions, particularly when administered in the absence of intoxication.

  1. Clinical evaluation of detomidine-butorphanol-guaifenesin-ketamine as short term TIVA in Spiti ponies.

    PubMed

    Thakur, B P S; Sharma, S K; Sharma, Arvind; Kumar, Adarsh

    2011-06-01

    Veterinarians working under remote field conditions are routinely presented with variety of surgical interventions in equines like castrations, management of wound, traumatic and congenital hernias and musculoskeletal disorders thus necessitating the use of general anaesthesia for management of these conditions. The present study was carried out to evaluate and recommend the suitable short term anaesthetic technique for Spiti ponies under field conditions. Seven clinically healthy male Spiti ponies presented for castration were evaluated for short term Total Intravenous Anaesthesia (TIVA) using detomidine (0.02 mg kg(-1)), butorphanol (0.01 mg kg(-1)), 5% guaifenesin (20 mg kg(-1)) and ketamine (2.0 mg kg(-1)). The studies conducted were open label trials and all the animals received same treatment. After proper tetanus prophylaxis and preanesthetic fasting, detomidine was administered intravenously. Subsequently at head down position the animals received butorphanol intravenously. Thereafter, guaifenesin was administered intravenously. As soon as the signs of ataxia developed, the induction of surgical anaesthesia was achieved by intravenous administration of ketamine hydrochloride. The onset of sedation was observed in 2.43 +/- 0.53 min following detomidine administration and the animals were ataxic in 1.43 +/- 0.43 min after butorphanol and guaifenesin administration when ketamine was injected. The ponies were in surgical plane of anaesthesia within 2.28 +/- 0.42 min following ketamine administration. During recovery the limb/head movement and sternal recumbency were attained in 18.71 +/- 1.98 and 26.14 +/- 1.62 min, respectively whereas standing ataxia and normal gait were seen at 29.42 +/- 3.21 and 71.14 +/- 4.74 min, respectively. There was excellent to good muscle relaxation. The surgical anaesthesia remained for 22.57 +/- 1.48 min. The recovery was smooth. Moderate to good suppression of palpebral and corneal reflexes were observed immediately after

  2. Sobre o uso das séries de Puiseux em mecanica celeste

    NASA Astrophysics Data System (ADS)

    Miloni, O. I.

    2003-08-01

    Neste trabalho é apresentada uma demonstração do uso dos diferentes desenvolvimentos em séries para as equações de perturbação em Mecânica Celeste no marco Hamiltoniano. Em trabalhos clássicos como os de Poincaré (Poincaré, 1893) por exemplo, já esta planteado o uso de potências não inteiras no pequeno parâmetro, o que evidencia a não analiticidade das funções quando uma ressonância ocorre. Nestes trabalhos os desenvolvimentos são na raíz quadrada da massa de Júpiter (o pequeno parâmetro). Mais recentemente (Ferraz-Mello, 1985) outros tipos de desenvolvimentos foram aplicados modificando substancialmente as ordens de grandeza e a velocidade de convergência das séries. Com esta abordagem, os desenvolvimentos foram expressados em termos da raíz cúbica do pequeno parâmetro. Neste trabalho apresentamos um enfoque geral, onde os diferentes tipos de desenvolvimentos em séries de Puiseux (Valiron, 1950) são obtidos a partir da aplicação de Teorema de Preparação de Weierstrass (Goursat, 1916) considerando a equação de Hamilton-Jacobi como uma equação algébrica. Os resultados são aplicados ao problema restrito dos três corpos em ressonância de primeira ordem e, dependendo da grandeza da excentricidade do asteróide em relação à de Júpiter, obtemos os diferentes desenvolvimentos, em raíz quadrada ou raíz cúbica da massa de Júpiter.

  3. A Concepção de Universo entre Alunos do Ensino Médio de São Paulo e suas Fontes de Aquisição

    NASA Astrophysics Data System (ADS)

    Araújo, M. A. A.; Elias, D. C. N.; Amaral, L. H.; Araújo, M. S. T.; Voelzke, M. R.

    2006-08-01

    Nesse trabalho procurou-se identificar por meio de um questionário as concepções de Universo, de espaço e tempo que sustentam a visão de mundo de um grupo de 270 estudantes de Ensino Médio, pertencentes a três escolas de São Paulo. As questões relacionadas aos conhecimentos prévios dos estudantes permitiram constatar que há pouco conhecimento acerca dos temas investigados, destacando-se que apenas 20% dos alunos foram capazes de relacionar as semanas com as fases da lua, enquanto 28% associaram as estações do ano à inclinação do eixo de rotação da Terra e 23% tinham noções das distâncias entre objetos celestes próximos da Terra. Enquanto 56% conseguiram relacionar o Big Bang com a origem do Universo, verificou-se que 37% reconheciam ano-luz como unidade de distância e 60% concebiam o Sol como uma estrela. No que se refere às fontes de aquisição que proporcionaram esses conhecimentos, apesar de 60% dos alunos indicarem a escola como principal fonte dos conhecimentos de Ast! ronomia, verificou-se claramente que para a maioria dos alunos seus conceitos ainda são inadequados, havendo necessidade de aprimoramento da abordagem desses conteúdos, pois apesar de popular, a Astronomia ainda é veiculada de maneira pouco esclarecedora e com imprecisões. Nesse contexto, são discutidas algumas possíveis contribuições que podem ser dadas para o ensino de Astronomia pelo uso das ferramentas computacionais nas escolas.

  4. Teaching astronomy mediated by information and communication technologies: a preliminary approach

    NASA Astrophysics Data System (ADS)

    Rosa, R. H. L.; Voelzke, M. R.

    2014-08-01

    como, visita a planetários e a observatórios. Os estudantes ficaram muito sensibilizados pela possibilidade de percepção do céu em tempo real e à luz do dia dentro da sala de aula no contexto escolar. Os resultados deste levantamento preliminar indicam que os níveis de ensino fundamental e médio não foram capazes de internalizar conhecimentos básicos de astronomia, a despeito das orientações específicas contidas nos documentos oficiais da educação básica brasileira (Brasil, 1997 e 2000). Os estudantes pesquisados apresentaram conhecimentos e concepções rudimentares sobre o tema astronomia básica, indicando a ausência de abordagem do tema astronomia, tampouco de observação direta do céu em trabalhos de campo escolares na educação básica. Finalmente, esta abordagem didática suscitou nos estudantes grande interesse para futuros trabalhos de observação de campo. D.P. Ausubel; J.D. Novak; H. Hanesian. Psicología Educativa: un punto de vista cognoscitivo. México: Trillas, 1983. BRASIL. Secretaria de Educação Básica. Parâmetros Curriculares Nacionais: Ensino Fundamental (PCN), 1997, e Ensino Médio (PCNEM), 2000. Brasília. MEC/SEB.

  5. Experiences in the Family Health Strategy: demands and vulnerabilities in the territory.

    PubMed

    Pinto, Antonio Germane Alves; Jorge, Maria Salete Bessa; Marinho, Mirna Neyara Alexandre de Sá Barreto; Vidal, Emery Ciana Figueirêdo; Aquino, Priscila de Souza; Vidal, Eglídia Carla Figueirêdo

    2017-01-01

    To understand the daily demands of Family Health Strategy in clinical practice of the team and social vulnerabilities of community territory. Research with qualitative approach, in a critical-reflexive perspective, held with two teams of the Family Health Strategy, in the city of Fortaleza, State of Ceará, Brazil. The participants were 22 users and 19 health professionals from the basic health network. Data from the interviews and observation were analyzed under the assumptions of critical hermeneutics. We highlight the unveiling of sufferings and daily clashes, the influence of social determinants on health and psychosocial demands, limits and possibilities of everyday clinical practice. The clinic attention must recognize the perceptions and living conditions by listening and promoting health in the community. Compreender as demandas cotidianas da Estratégia Saúde da Família na prática clínica da equipe e as vulnerabilidades sociais do território comunitário. Pesquisa com abordagem qualitativa, numa perspectiva crítico-reflexiva, realizada com duas equipes da Estratégia Saúde da Família, no município de Fortaleza, Estado do Ceará, Brasil. Os participantes foram 22 usuários e 19 profissionais de saúde da rede básica de saúde. Os dados das entrevistas e observação foram analisados sob os pressupostos da hermenêutica crítica. Evidenciam-se o desvelamento de sofrimentos e enfrentamentos cotidianos, a influência dos determinantes sociais na saúde e as demandas psicossociais, limites e possibilidades da prática clínica cotidiana. Considera-se que a atenção clínica deve reconhecer as percepções e condições de vida pela escuta e ações de promoção de saúde na comunidade.

  6. Virtual learning object and environment: a concept analysis.

    PubMed

    Salvador, Pétala Tuani Candido de Oliveira; Bezerril, Manacés Dos Santos; Mariz, Camila Maria Santos; Fernandes, Maria Isabel Domingues; Martins, José Carlos Amado; Santos, Viviane Euzébia Pereira

    2017-01-01

    To analyze the concept of virtual learning object and environment according to Rodgers' evolutionary perspective. Descriptive study with a mixed approach, based on the stages proposed by Rodgers in his concept analysis method. Data collection occurred in August 2015 with the search of dissertations and theses in the Bank of Theses of the Coordination for the Improvement of Higher Education Personnel. Quantitative data were analyzed based on simple descriptive statistics and the concepts through lexicographic analysis with support of the IRAMUTEQ software. The sample was made up of 161 studies. The concept of "virtual learning environment" was presented in 99 (61.5%) studies, whereas the concept of "virtual learning object" was presented in only 15 (9.3%) studies. A virtual learning environment includes several and different types of virtual learning objects in a common pedagogical context. Analisar o conceito de objeto e de ambiente virtual de aprendizagem na perspectiva evolucionária de Rodgers. Estudo descritivo, de abordagem mista, realizado a partir das etapas propostas por Rodgers em seu modelo de análise conceitual. A coleta de dados ocorreu em agosto de 2015 com a busca de dissertações e teses no Banco de Teses e Dissertações da Coordenação de Aperfeiçoamento de Pessoal de Nível Superior. Os dados quantitativos foram analisados a partir de estatística descritiva simples e os conceitos pela análise lexicográfica com suporte do IRAMUTEQ. A amostra é constituída de 161 estudos. O conceito de "ambiente virtual de aprendizagem" foi apresentado em 99 (61,5%) estudos, enquanto o de "objeto virtual de aprendizagem" em apenas 15 (9,3%). Concluiu-se que um ambiente virtual de aprendizagem reúne vários e diferentes tipos de objetos virtuais de aprendizagem em um contexto pedagógico comum.

  7. Palliative care and nursing in dissertations and theses in Portugal: a bibliometric study.

    PubMed

    Ferreira, Maria Amélia Leite; Pereira, Alexandra Manuela Nogueira de Andrade; Martins, José Carlos Amado; Barbieri-Figueiredo, Maria do Céu

    2016-04-01

    To identify the academic scientific production on palliative care in master dissertations and PhD theses carried out by nurses in Portugal. A descriptive retrospective study of bibliometric type with search for the abstracts available in repositories of higher education institutions in the period 2000-2014. Of the 1814 papers identified, 249 met the inclusion criteria (ten doctoral theses and 239 master dissertations). The most representative methodological approach was quantitative (31.35%) and the most studied area was family/informal caregiver (20.69%). The most studied target population were the students/health professionals (38.51%). The academic scientific production in this area has been growing in spite of the need for continued investment in order to fill the identified gaps. Identificar a produção científica académica sobre cuidados paliativos nos estudos de mestrados e doutoramentos efetuados por enfermeiros em Portugal. Estudo descritivo e retrospetivo, do tipo bibliométrico, recorrendo aos resumos disponíveis nos repositórios das instituições de ensino superior no período 2000-2014. Dos 1814 trabalhos identificados, 249 corresponderam aos critérios de inclusão (10 teses de doutoramento e 239 dissertações de mestrado). A abordagem metodológica mais representativa é a quantitativa (31,35%), a área mais estudada foi a família/cuidador informal (20,69%) e a população-alvo mais estudada foram os estudantes/profissionais de saúde (38,51%). A produção científica académica nessa área tem vindo a crescer. Embora exista necessidade de investimento contínuo de forma a colmatar as lacunas identificadas.

  8. Robotic-assisted modified retroauricular cervical approach: initial experience in Latin America.

    PubMed

    Chulam, Thiago Celestino; Lira, Renan Bezerra; Kowalski, Luiz Paulo

    2016-01-01

    to evaluate the thickness of the gastric wall at the time of intra gastric balloon (IGB) placement, at the time of its withdrawal and one month after withdrawal. fifteen morbidly obese patients underwent the introduction of IGB under general anesthesia. In all patients, there was infusion of 500ml of distilled water in the balloon for the test. Measurements of the thickness of the gastric wall were made in the antrum, body and proximal body, using a radial echoendoscope with a frequency of 12MHz and maximum zoom, and its own balloon inflated with 5ml of distilled water. the presence of IGB led to increased wall thickness of the gastric body by expanding the muscle layer. These changes were apparently transient, since 30 days after the balloon withdrawal there was a tendency to return of the wall thickness values ​​observed before the balloon insertion. the use of intragastric balloon for the treatment of obesity determines transient increase in the wall thickness of the gastric body caused by expanded muscle layer. A preocupação com a melhoria dos resultados estéticos e funcionais sem comprometimento dos resultados oncológicos na cirurgia de cabeça e pescoço tem aumentado significativamente. Os procedimentos minimamente invasivos e principalmente aqueles que utilizam a tecnologia robótica permitiram o desenvolvimento de novas abordagens, incluindo o acesso retroauricular, que agora é usado rotineiramente, especialmente na Coréia do Sul. A presente nota irá ilustrar a técnica e a experiência inicial na América Latina, demonstrando que esta abordagem é viável, segura e eficaz oncologicamente, podendo ser utilizada em casos selecionados com um benefício estético evidente.

  9. On Ensino de Astronomia: Desafios para Implantação

    NASA Astrophysics Data System (ADS)

    Faria, R. Z.; Voelzke, M. R.

    2008-09-01

    Em 2002 o ensino de Astronomia foi proposto como um dos temas estruturadores pelos Parâmetros Curriculares Nacionais e sugerido como facilitador para que o aluno compreendesse a Física como construção humana e parte do seu mundo vivencial, mas raramente seus conceitos foram ensinados. A presente pesquisa discute dois aspectos relacionados à abordagem de Astronomia. O primeiro aspecto é se ela está sendo abordada pelos professores do Ensino Médio e o segundo, aborda a maneira como ela está sendo ensinada. Optou-se pela aplicação de um questionário a partir do 2° semestre de 2006 e durante o ano de 2007 com professores que ministram a disciplina de Física, os quais trabalham em escolas estaduais em Rio Grande da Serra, Ribeirão Pires e Mauá no estado São Paulo. Dos 66,2% dos professores que responderam ao questionário nos municípios de Rio Grande da Serra, Ribeirão Pires e Mauá, 57,4% não aplicaram nenhum tópico de astronomia, 70,2% não utilizaram laboratório, 89,4% não utilizaram qualquer tipo de programa computacional, 83,0% nunca fizeram visitas com alunos a museus e planetários e 38,3% não indicaram qualquer tipo de livro ou revista referente à astronomia aos seus alunos. Mesmo considerando a Astronomia um conteúdo potencialmente significativo, esta não fez parte dos planejamentos escolares. Portanto são necessárias propostas que visem estratégias para a educação continuada dos professores como, por exemplo, cursos específicos sobre o ensino em Astronomia.

  10. Developing and Testing of a Software Prototype to Support Diagnostic Reasoning of Nursing Students.

    PubMed

    de Sousa, Vanessa Emille Carvalho; de Oliveira Lopes, Marcos Venícios; Keenan, Gail M; Lopez, Karen Dunn

    2018-04-01

    To design and test educational software to improve nursing students' diagnostic reasoning through NANDA-I-based clinical scenarios. A mixed method approach was used and included content validation by a panel of 13 experts and prototype testing by a sample of 56 students. Experts' suggestions included writing adjustments, new response options, and replacement of clinical information on the scenarios. Percentages of students' correct answers were 65.7%, 62.2%, and 60.5% for related factors, defining characteristics, and nursing diagnoses, respectively. Full development of this software shows strong potential for enhancing students' diagnostic reasoning. New graduates may be able to apply diagnostic reasoning more rapidly by exercising their diagnostic skills within this software. Desenvolver e testar um protótipo de software educativo para melhorar o raciocínio diagnóstico de estudantes de enfermagem. MÉTODOS: Uma abordagem mista foi utilizada e incluiu validação de conteúdo por 13 experts e testagem do protótipo por 56 estudantes. Sugestões dos experts incluíram ajustes na escrita, inclusão de novas opções de resposta e substituição de dados clínicos nos cenários. Os percentuais de respostas corretas dos estudantes foram 65,7%, 62,2% e 60,5% para fatores relacionados, características definidoras e diagnósticos de enfermagem respectivamente. CONCLUSÃO: O desenvolvimento deste software tem um forte potencial para melhorar o raciocínio diagnóstico de estudantes. IMPLICAÇÕES PARA A PRÁTICA EM ENFERMAGEM: Através deste software, enfermeiros poderão ser capazes de exercitar o raciocínio diagnóstico e aplicá-lo mais rapidamente. © 2016 NANDA International, Inc.

  11. Nursing workload for cancer patients under palliative care.

    PubMed

    Fuly, Patrícia Dos Santos Claro; Pires, Livia Márcia Vidal; Souza, Claudia Quinto Santos de; Oliveira, Beatriz Guitton Renaud Baptista de; Padilha, Katia Grillo

    2016-01-01

    To verify the nursing workload required by cancer patients undergoing palliative care and possible associations between the demographic and clinical characteristics of the patients and the nursing workload. This is a quantitative, cross-sectional, prospective study developed in the Connective Bone Tissue (TOC) clinics of Unit II of the Brazilian National Cancer Institute José Alencar Gomes da Silva with patients undergoing palliative care. Analysis of 197 measures of the Nursing Activities Score (NAS) revealed a mean score of 43.09% and an association between the performance status of patients undergoing palliative care and the mean NAS scores. The results of the study point to the need to resize the team of the unit. The NAS has proven to be a useful tool in oncologic clinical units for patients undergoing palliative care. Verificar a carga de trabalho de enfermagem requerida por pacientes com câncer sob cuidados paliativos e possíveis associações entre as características demográficas e clínicas dos pacientes e a carga de trabalho de enfermagem. Trata-se de um estudo de abordagem quantitativa, transversal, prospectivo, desenvolvido na clínica de Tecido Ósseo Conectivo (TOC) da Unidade II do Instituto Nacional de Câncer José Alencar Gomes da Silva, com pacientes em cuidados paliativos. A análise de 197 medidas do Nursing Activities Score (NAS) revelou um escore médio de 43,09% e uma associação entre a performance status de pacientes em cuidados paliativos com os valores médios do NAS. Os resultados do estudo apontam para a necessidade de redimensionamento da equipe da Unidade. O NAS mostrou-se um instrumento passível de utilização em unidades clínicas oncológicas, com pacientes em cuidados paliativos.

  12. Use of technologies in intravenous therapy: contributions to a safer practice.

    PubMed

    Moreira, Ana Paula Amorim; Escudeiro, Cristina Lavoyer; Christovam, Bárbara Pompeu; Silvino, Zenith Rosa; Carvalho, Márglory Fraga de; Silva, Roberto Carlos Lyra da

    2017-01-01

    To identify what are the difficulties of the nursing staff in the management of technologies during intravenous therapy (IVT) and discuss the difficulties identified under the perspective of patient's safety. Descriptive study of qualitative approach with data collected by semi-structured interview and analyzed by the Alceste software. The greatest difficulty of cognitive and technical emphasis was the lack of training; and regarding administrative emphasis, the greatest difficulty was the lack of material and human resources. Infusion pumps and their proper use were highlighted as the technological resource that most contributed to patient safety. The lack of training is presented as the greatest difficulty of nursing professionals and permeates safety issues of both patient and professional when using the hard technologies in IVT. Training is essential to the development of techniques, considered nursing tools. Identificar quais são as dificuldades da equipe de Enfermagem no manejo das tecnologias durante a terapia intravenosa (TIV) e discutir as dificuldades identificadas sob a perspectiva da segurança do paciente. abordagem qualitativa, do tipo descritivo com dados coletados por entrevista semiestruturada e analisados pelo programa Alceste. A maior dificuldade de ênfase cognitiva e técnica foi a falta de treinamento; e de ênfase administrativa, foi a falta de recursos materiais e humanos. As bombas de infusão e sua utilização adequada foram destacadas como o recurso tecnológico que mais contribuiu para a segurança do paciente. A falta de treinamento é apresentada como a maior dificuldade dos profissionais de Enfermagem e permeia as questões de segurança do paciente e do profissional ao utilizar as tecnologias duras na TIV. O treinamento é imprescindível para o desenvolvimento das técnicas, consideradas como ferramentas do fazer da Enfermagem.

  13. SIMPLIFIED LAPAROSCOPIC GASTRIC BYPASS WITH GASTROJEJUNAL LINEAR MECHANICAL ANASTOMOSIS: TECHNICAL ASPECTS.

    PubMed

    Palermo, Mariano; Serra, Edgardo

    ástrica. O bypass gastrointestinal serve como o elemento malabsortivo. Descrever uma abordagem de bypass gástrico simplificado para pacientes obesos mórbidos, mostrando os resultados, e também destacando a importância desta técnica para reduzir a curva de aprendizagem. O paciente é posicionado em posição de pernas abertas e cuidadosamente amarrado à mesa da sala de operação com o cirurgião entre as pernas. Cinco trocárteres são inseridos após pneumoperitônio no umbigo. Dissecção do ângulo esofagogástrico e curvatura menor é obrigatória antes da realização da bolsa gástrica. Esta bolsa é feita com dois grampeadores de carga azuis. Usando um grampeador carga linear azul inserido apenas a meio caminho para dentro do orifício na bolsa é executada a anastomose gastrojejunal a fim de criar anastomose de cerca de 2 cm de comprimento. Jejunojejunostomia laretolateral é feita com um grampeador carga linear branca. A última etapa do bypass gástrico consiste no corte do jejuno entre as duas anastomoses com um grampeador carga linear branco. Teste de azul é realizado de modo a detectar vazamentos. De janeiro de 2012 a dezembro de 2015, foram realizadas 415 RYGB simplificadas. Gênero: 67% homens e 33% mulheres. A média do IMC foi de 44,7 e a de idade 42 anos. A média de tempo operatório foi de 79 min. 39% desta amostra tinha diabete melito tipo 2. Quanto às complicações foram observadas uma fístula, uma estenose gastrojejunal e uma obstrução devido à bezoar. A técnica descrita é uma abordagem simplificada, na qual todas as anastomoses são realizadas na parte superior do abdome, permitindo aos cirurgiões serem mais sistematizados e evitando cometerem erros na confecção da anastomose em Y-de-Roux. Este bypass gástrico simplificado é técnica segura e reprodutível.

  14. Costs of the Smoking Cessation Program in Brazil.

    PubMed

    Mendes, Andréa Cristina Rosa; Toscano, Cristiana Maria; Barcellos, Rosilene Marques de Souza; Ribeiro, Alvaro Luis Pereira; Ritzel, Jonas Bohn; Cunha, Valéria de Souza; Duncan, Bruce Bartholow

    2016-11-10

    abordagem intensiva e tratamento do tabagismo engloba consultas, sessões de terapia cognitivo-comportamental em grupo e uso de medicamentos. Os custos do atendimento e gerenciamento do programa foram estimados utilizando a metodologia do microcusteio. A implementação plena do programa no município de Goiânia, Goiás, foi definida como sua expansão para suprir a demanda de todos os fumantes motivados a parar de fumar no município que seriam atendidos pelo Sistema Único de Saúde. Foram considerados custos médicos e não médicos diretos: recursos humanos, medicamentos, material de consumo, despesas gerais, transporte, viagens, eventos e custos de capital. Foram incluídos custos dos níveis federal, estadual e municipal de gestão. A perspectiva da análise foi a do Sistema Único de Saúde. Análise de sensibilidade foi realizada variando parâmetros referentes à quantidade de atividades e aos recursos utilizados. As fontes de dados incluíram uma amostra de unidades de saúde da Atenção Primária, secretarias de saúde municipal e estadual e Ministério da Saúde. Os custos foram estimados em reais (R$) para o ano de 2010. O custo do programa em Goiânia foi de R$429.079, sendo 78,0% referentes à abordagem e tratamento do tabagismo. O custo por paciente foi de R$534 e, por paciente que deixou de fumar, de R$1.435. A implementação plena do programa no município de Goiânia geraria custo de R$20,28 milhões, para atender 35.323 fumantes. O Programa de Tratamento do Tabagismo tem bom desempenho em termos de custo por paciente que deixa de fumar. Tendo em vista a carga do tabagismo no Brasil, o tratamento para cessação de fumar deve ser considerado prioritário ao se programar a alocação de recursos de saúde.

  15. Subluxação da mandíbula para abordagem de bifurcação carotídea alta em paciente com parotidite por contraste iodado: relato de caso e revisão de literatura

    PubMed Central

    dos Santos, Reinaldo Benevides; Queiroz, André Brito; Fidelis, Ronald José Ribeiro; Lopes, Cicero Fidelis; de Araújo, José Siqueira

    2017-01-01

    Resumo A doença aterosclerótica das carótidas extracranianas pode resultar em complicações com alta morbidade e mortalidade. A avaliação pré-operatória com exames contrastados de imagem é associada a complicações como a parotidite, além das já bem conhecidas reações alérgicas e da disfunção renal. A bifurcação carotídea alta e a doença aterosclerótica de extensão cranial costumam ser fatores limitantes para o tratamento cirúrgico convencional. Entretanto, quando há contraindicação ao uso de contraste iodado ou impossibilidade do tratamento endovascular, há a necessidade do conhecimento de técnicas cirúrgicas que permitam a realização da endarterectomia com segurança. A subluxação da mandíbula se mostrou uma técnica adjuvante segura e efetiva, de fácil execução e reprodutibilidade, possibilitando o acesso a bifurcações carotídeas altas com boa exposição do campo cirúrgico e permitindo a realização da endarterectomia conforme a técnica padrão. Apresentamos o caso de uma paciente com bifurcação carotídea alta e com limitações para uso do contraste iodado que foi submetida a endarterectomia carotídea após subluxação de mandíbula. PMID:29930669

  16. Coral snake bites (Micrurus spp.) in Brazil: a review of literature reports.

    PubMed

    Bucaretchi, Fábio; Capitani, Eduardo Mello De; Vieira, Ronan José; Rodrigues, Cinthia K; Zannin, Marlene; Da Silva, Nelson J; Casais-e-Silva, Luciana L; Hyslop, Stephen

    2016-03-01

    In the Americas, the main representatives of the family Elapidae are coral snakes of the genus Micrurus, of which 33 species are in Brazil. They are the smallest cause of venomous snakebite in Brazil. We analyzed literature reports of coral snake bites in Brazil from 1867 to 2014, and provide a brief review of case series and reports of coral snake bites in the Americas in general. Only reports with clinical descriptions of envenomation were included. The variables recorded included identification of the offending snake, patient's age, sex, bite site, clinical manifestations, treatment, including antivenom and anticholinesterase drugs, and general evolution of the cases. 30 published reports describing bites caused by Micrurus spp. in Brazil were identified and involved 194 distinct cases. Since no information on the clinical manifestations was available in 44 cases, the analysis was restricted to 25 reports (150 cases). Most patients were from southern (61.3%; primarily Santa Catarina state, 60%) and southeastern (20%) Brazil and were male (70.7%), with a median age of 27 years (interquartile interval = 18 to 40 years). The offending snakes were described in 59 cases (M. corallinus 36, M. frontalis 12, M. lemniscatus 5, M. hemprichi 2, M. filiformis 1, M. ibiboboca 1, M. spixii 1 and M. surinamensis 1); in 22 cases only the genus (Micrurus spp.) was reported. Of the 143 cases in which the bite site was recorded, most involved the hands (46.2%) and feet (26.6%). The main clinical features were local numbness/paresthesia (52.7%), local pain (48%), palpebral ptosis (33.3%), dizziness (26.7%), blurred vision (20.7%), weakness (20%), slight local edema (16%), erythema (16%), dysphagia (14.7%), dyspnea (11.3%), inability to walk (10.7%), myalgia (9.3%), salivation (8%) and respiratory failure (4.3%). Fang marks were described in 47.3% of cases and 14% of bites were classified as asymptomatic. A slight increase in total blood creatine kinase was reported in 3 children

  17. Ian: a 7-year old with prenatal drug exposure and early exposure to family violence.

    PubMed

    Stein, Martin T; Drahota, Amy; Chavira, Denise A

    2008-12-01

    Intelligence Scale-IV revealed verbal intelligence quotient (IQ) of 75 and a performance IQ of 108 with a full scale score of 81. The Gilliam Autism Rating Scale-2 indicated a probability of autism with significant scores in stereotype behavior, communication, and social interactions. During the physical examination, he constantly moved while in chair and required frequent redirection and refocusing on many tasks. Eye contact was appropriate, but he often used words out of context with scripted references to videos at home. Foul language was used both randomly and directed to the examiner. After saying, "here comes the bitch," he apologized. Ian demonstrated appropriate joint attention and reciprocal play without over-focusing on a single toy. Growth measurements were at the 95th percentile. Physical and neurological examinations were normal with the exception of mild asymmetry of auricle size and slightly abducted auricles in association with mildly small palpebral fissures.

  18. Ian: a 7-year old with prenatal drug exposure and early exposure to family violence.

    PubMed

    Drahota, Amy; Chavira, Denise A; Stein, Martin T

    2010-04-01

    Intelligence Scale-IV revealed verbal intelligence quotient (IQ) of 75 and a performance IQ of 108 with a full scale score of 81. The Gilliam Autism Rating Scale-2 indicated a probability of autism with significant scores in stereotype behavior, communication, and social interactions. During the physical examination, he constantly moved while in chair and required frequent redirection and refocusing on many tasks. Eye contact was appropriate, but he often used words out of context with scripted references to videos at home. Foul language was used both randomly and directed to the examiner. After saying, "here comes the bitch," he apologized. Ian demonstrated appropriate joint attention and reciprocal play without over-focusing on a single toy. Growth measurements were at the 95th percentile. Physical and neurological examinations were normal with the exception of mild asymmetry of auricle size and slightly abducted auricles in association with mildly small palpebral fissures.

  19. Analysis of suffering at work in Family Health Support Centers.

    PubMed

    Nascimento, Débora Dupas Gonçalves do; Oliveira, Maria Amélia de Campos

    2016-01-01

    Analyzing the work process in the Family Health Support Center. An exploratory, descriptive case study using a qualitative approach. Focus groups were conducted with 20 workers of a Family Health Support Center, and the empirical material was subjected to content analysis technique and analyzed in light of Work Psychodynamics. The category of suffering is presented herein as arising from the dialectical contradiction between actual work and prescribed work, from resistance to the Family Health Support Center's proposal and a lack of understanding of their role; due to an immediatist and curative culture of the users and the Family Health Strategy; of the profile, overload and identification with work. The dialectical contradiction between expectations from Family Health Strategy teams and the work in the Family Health Support Center compromises its execution and creates suffering for workers. Analisar o processo de trabalho no Núcleo de Apoio à Saúde da Família. Estudo de caso exploratório, descritivo e de abordagem qualitativa. Grupos focais foram realizados com 20 trabalhadores do Núcleo de Apoio à Saúde da Família, o material empírico foi submetido à técnica de análise de conteúdo e analisado à luz da Psicodinâmica do Trabalho. Apresenta-se aqui a categoria sofrimento que neste estudo decorre da contradição dialética entre o trabalho real e o trabalho prescrito, da resistência à proposta do Núcleo de Apoio à Saúde da Família e da falta de compreensão de seu papel; da cultura imediatista e curativa do usuário e da Estratégia Saúde da Família; do perfil, sobrecarga e identificação com o trabalho. A contradição dialética entre expectativas das equipes da Estratégia Saúde da Família e o trabalho no Núcleo de Apoio à Saúde da Família compromete sua efetivação e gera sofrimento aos trabalhadores.

  20. Religiosity and spirituality as resilience strategies among long-living older adults in their daily lives.

    PubMed

    Reis, Luana Araújo Dos; Menezes, Tânia Maria de Oliva

    2017-01-01

    to investigate religiosity and spirituality as a resilience strategy for the long-living older adults in their daily lives. Qualitative research of phenomenological approach based on Martin Heidegger thoughts. Interviews were conducted with 14 older adults registered at a family health unit in the city of Jequié, BA, Brazil. The data were analyzed in the light of Being and Time. The results revealed that God occupies a central position in their lives, and the reading of the bible, praying the rosary and prayers are resilience strategies used for coping with unfavorable situations, recovery and/or maintenance of health, personal and family protection, and, above all, the experience of a satisfactory aging. Religiosity and spirituality were presented as an important resilience strategy in the existence of older adults, showing that through them it is possible to achieve well-being and cope with health and social problems. Desvelar a religiosidade e espiritualidade nas estratégias de resiliência do idoso longevo no cotidiano. Pesquisa qualitativa de abordagem fenomenológica fundamentada no pensamento de Martin Heidegger. Foram realizadas entrevistas com 14 pessoas idosas longevas cadastradas em uma unidade de saúde da família no município de Jequié, BA, Brasil. Os dados foram analisados à luz de Ser e Tempo. Desvelaram que Deus ocupa uma posição central em suas vidas, e a leitura da bíblia, a reza do terço e a oração são estratégias de resiliência utilizadas para o enfretamento de situações desfavoráveis, a recuperação e/ou manutenção da saúde, a proteção pessoal e familiar e, sobretudo, a vivência de uma velhice satisfatória. A religiosidade e espiritualidade foram desveladas como importante estratégia de resiliência no existir da pessoa idosa longeva, sinalizando que, por meio dela, é possível alcançar o bem-estar e enfrentar problemas de saúde e sociais.

  1. Occupational Burnout Syndrome in the nursing context: an integrative literature review.

    PubMed

    Medeiros-Costa, Mateus Estevam; Maciel, Regina Heloísa; Rêgo, Denise Pereira do; Lima, Lucimar Lucas de; Silva, Maria Eliziane Pinto da; Freitas, Julyana Gomes

    2017-07-20

    To characterize the scientific production on Burnout Syndrome in the Nursingcontext, systematizing the location where the studies were carried out, the related constructs, the employed methods and their main results. An integrative review of the literature with a bibliometric approach of articles published in Portuguese, Spanish and English between 2005 and 2016. 106 articles wereincluded. Mostinvolvedprevalence, and were descriptive, quantitative studies performed in hospitals.The Southeastern and Southern regions of Brazil had the largest number of publications, and stress was the construct most related to burnout.Most of the studies used the Maslach Burnout Inventory to investigate the presence of the syndrome. New case-control and cohort studies should be carried out.Qualitative-exploratory studies are necessary to better understand Burnout Syndrome among nursing professionals usingfocus groups or interviews, as well as comparative causal studies, with the purpose of exploring the syndrome'smanifestations. Caracterizar a produção científica sobre a Síndrome do Esgotamento Profissionalno contexto da enfermagem, sistematizando os locais onde as pesquisas foram realizadas, os construtos relacionados, os métodos empregados e seus principais resultados. Revisão integrativa da literatura, com abordagem bibliométrica, em artigos na língua portuguesa, espanhola e inglesa publicados entre 2005 e 2016. Foram selecionados 106 artigos.A maioria estudos de prevalência, descritivos, quantitativos e realizados em hospitais. Nas regiões Sudeste e Sul do Brasil encontram-se o maior número de publicações, sendo o estresse o construto mais relacionado com o esgotamento profissional. A maior parte dos estudos utilizou o Maslach Burnout Inventory como meio de averiguação da presença da síndrome. Novos estudos de caso controle e coorte devem ser realizados. Pesquisas de cunho qualitativo-exploratório são necessárias para poder compreender melhor a Síndrome do

  2. Uma Visão do Universo Segundo um Grupo de Alunos do Ensino Médio de São Paulo

    NASA Astrophysics Data System (ADS)

    Elias, D. S.; Araújo, M.; Amaral, L. H.; Voelzke, M. R.; Araújo, M.

    2005-08-01

    A astronomia, embora seja uma ciência popular, com inúmeras descobertas de interesse público, ainda é apresentada desconsiderando-se os aspectos históricos e científicos relacionados ao seu desenvolvimento, sendo geralmente veiculada nos meios de comunicação de maneira pouco esclarecedora e não raro com imprecisões. Neste trabalho analisou-se a concepção de um grupo de estudantes de Ensino Médio sobre conceitos de astronomia, visando identificar sua visão de mundo a respeito do Universo, envolvendo idéias sobre espaço e tempo. Para issso, foi aplicado um questionário em três escolas da grande São Paulo em um espaço amostral de 270 alunos. Constatou-se que, embora o ensino de astronomia esteja previsto nos PCNEM, os resultados obtidos na pesquisa mostram que há grande deficiência no conhecimento dos temas investigados. Nesse sentido, verificou-se que apenas 20% dos alunos eram capazes de relacionar a sucessão das semanas com as fases da lua, enquanto 28% associaram as estações do ano à inclinação do eixo de rotação da Terra. Por outro lado, somente 23% dos alunos tinham noções das distâncias entre os objetos celestes próximos da Terra e 56% conseguiram relacionar o Big Bang com a origem do Universo. Finalmente, constatou-se que 37% reconheciam o ano-luz como uma unidade de distância e 60% reconheciam o Sol como sendo uma estrela. Apesar de 60% dos alunos indicarem que a escola é a principal fonte para aquisição dos conhecimentos de astronomia, conclui-se que seus conceitos nessa área ainda são inadequados, havendo necessidade de ampliação e aprimoramento da abordagem desses conteúdos nos ambientes escolares.

  3. (Un)receptiveness in interactions with professionals: experiences of parents of children with retinopathy of prematurity.

    PubMed

    Facio, Beatriz Castanheira; Marski, Bruna de Souza Lima; Higarashi, Ieda Harumi; Misko, Maira Deguer; Silveira, Aline Oliveira; Wernet, Monika

    2016-01-01

    estressor do cuidado parental. Os resultados sinalizam núcleos de mudanças atitudinais e reforçam desafios à abordagem centrada na criança e família.

  4. Use of alcohol and other drugs among male university students and its meanings.

    PubMed

    Dázio, Eliza Maria Rezende; Zago, Márcia Maria Fontão; Fava, Silvana Maria Coelho Leite

    2016-01-01

    To understand the meanings that male university students assign to the condition of users of alcohol and other drugs. An exploratory study using a qualitative approach, with inductive analysis of the content of semi-structured interviews applied to 20 male university students from a public university in the southeast region of Brazil, grounded on the theoretical-methodological referential of interpretive anthropology and ethnographic method. Data were construed using content inductive analysis for two topics: use of alcohol and/or drugs as an outlet; and use of alcohol and/or other drugs: an alternative for belonging and identity. Male university students share the rules of their sociocultural environment that values the use of alcohol and/or other drugs as a way of dealing with the demands and stress ensuing from the everyday university life, and to build identity and belong to this social context, reinforcing the influence of culture. Compreender os significados atribuídos pelos universitários do sexo masculino à condição de usuários de álcool e outras drogas. Estudo exploratório de abordagem qualitativa, com análise de conteúdo indutiva de entrevistas semiestruturadas de 20 universitários do sexo masculino, matriculados em uma universidade pública da região sudeste do Brasil, fundamentado no referencial teórico-metodológico da Antropologia Interpretativa e do método etnográfico. Os dados foram interpretados com a análise de conteúdo indutiva em dois temas: O uso do álcool e/ou drogas como válvula de escape; O uso do álcool e/ou outras drogas: alternativa para o pertencimento e para a identidade. Os universitários do sexo masculino compartilham normas de seu meio sociocultural, que valorizam o uso de álcool e/ou outras drogas, como uma forma de lidar com as exigências e o estresse da vida universitária, criar uma identidade e ter pertencimento neste contexto social, reforçando a influência da cultura.

  5. Promoting oral care in the preschool child: effects of a playful learning intervention.

    PubMed

    Sigaud, Cecília Helena de Siqueira; Santos, Bruna Rodrigues Dos; Costa, Priscila; Toriyama, Aurea Tamami Minagawa

    2017-01-01

    To compare the number of appropriate behaviors for tooth brushing before and after a playful learning intervention with preschool children. A quasi-experimental, quantitative, before and after study design was conducted in an early childhood educational institution, with children between three and five years of age. The intervention consisted of three meetings with educational activities about tooth brushing, whose outcome was evaluated by means of observation of ten behaviors suitable for tooth brushing. Forty-four children participated in the study. The mean of adequate behaviors was 4.4 before the intervention, and 8.5 after the intervention. A significant increase in the adoption of appropriate behaviors for tooth brushing (p <0.01) was identified. Nurses can enhance oral health promotion actions with preschoolers in preschool institution using playful learning interventions. Comparar o número de comportamentos adequados para a escovação de dentes antes e após uma intervenção educativa lúdica com pré-escolares. Estudo quase-experimental, do tipo antes-depois, com abordagem quantitativa e conduzido em instituição de educação infantil com crianças entre três e cinco anos de idade. A intervenção consistiu em três encontros com atividades educativas lúdicas sobre escovação de dentes, cujo efeito foi avaliado por meio da observação de dez comportamentos adequados para a escovação dos dentes. Participaram do estudo 44 crianças. A média de comportamentos adequados foi de 4,4 antes da intervenção e 8,5 após a mesma. Houve um aumento significativo na adoção de comportamentos adequados para a escovação de dentes (p < 0,01). Por meio de intervenções educativas lúdicas, recomenda-se que os enfermeiros potencializem as ações de promoção da saúde bucal com pré-escolares em instituições de educação infantil.

  6. Taking care of the newborn dying and their families: Nurses' experiences of neonatal intensive care.

    PubMed

    Almeida, Fabiane de Amorim; Moraes, Mariana Salim de; Cunha, Mariana Lucas da Rocha

    2016-06-01

    To understand the experiences of nurses when caring for dying newborns and their families in the NICU; and redeem their perceptions about acting before the death and grieving process. A descriptive exploratory study with a qualitative approach, developed with nine nurses at the ICU of a hospital in São Paulo (SP), Brazil. Data was collected through semi-structured interviews and analyzed using the Collective Subject Discourse (CSD). Caring for newborns who are dying and their families is very difficult for nurses, due to the intense involvement. They seek strategies to deal with the situation and, before the newborn's death, despite the suffering, express the feeling of accomplishment. Facing death and grief triggers mechanisms that emerge life references, coming across painful issues. Learning to deal with these questions is a daily challenge for nurses of the NICU. Compreender as experiências vivenciadas por enfermeiros ao cuidar de neonatos que estão morrendo e seus familiares na UTIN; e resgatar as suas percepções sobre a atuação diante do processo de morte e luto. Estudo descritivo exploratório, de abordagem qualitativa, desenvolvido com nove enfermeiras da UTIN de um hospital de São Paulo (SP), Brasil. Os dados foram coletados por meio de entrevista semi-estruturada e analisados pela técnica do Discurso de Sujeito Coletivo (DSC). Cuidar de neonatos que estão morrendo e suas famílias é muito difícil para as enfermeiras, devido ao intenso envolvimento. Buscam estratégias para lidar com a situação e, diante do óbito do neonato, apesar do sofrimento, manifestam o sentimento de dever cumprido. Enfrentar a morte e o luto aciona mecanismos que afloram referências de vida, deparando-se com questões dolorosas. Aprender a lidar com essas questões é um desafio diário para os enfermeiros de UTIN.

  7. Falls in long-term care institutions for elderly people: protocol validation.

    PubMed

    Baixinho, Cristina Rosa Soares Lavareda; Dixe, Maria Dos Anjos Coelho Rodrigues; Henriques, Maria Adriana Pereira

    2017-01-01

    To validate the content of a fall management risk protocol in long-term institutions for elderly people. Methodological, quanti-qualitative study using the Delphi technique. The tool, based on the literature, was sent electronically to obtain consensus among the 14 experts that meet the defined inclusion criteria. The 27 indicators of the protocol are organized in three dimensions: prepare for the institutionalization (IRA=.88); manage the risk of falls throughout the institutionalization (IRA=.9); and lead the communication and formation (IRA=1), with a CVI=.91. Two rounds were performed to get a consensus superior to 80% in every item. The values obtained in the reliability test (>0.8) show that the protocol can be used to meet the intended goal. The next step is the clinic validation of the protocol with residents of long-term care institutions for elderly people. Validar o conteúdo de um protocolo para a gestão do risco de queda em Instituições de Longa Permanência para Idosos. Estudo metodológico, de abordagem quantiqualitativa, utilizando a técnica de Delphi. O instrumento, construído com base na literatura, foi enviado por via electrónica, para obter consenso entre os 14 peritos que respeitam os critérios de inclusão definidos. Os 27 indicadores do protocolo estão organizados em três dimensões: Preparar a Institucionalização (IRA=,88); Gerir o Risco de Queda ao longo da Institucionalização (IRA=,9) e Liderar a comunicação e formação (IRA=1), com um CVI=,91. Foram efetuadas duas rodadas para se obter consenso superior a 80% em todos os itens. Os valores obtidos no teste de fidedignidade (>0,8) atestam que o protocolo pode ser utilizado para atingir o fim que se pretende. A próxima etapa é a validação clínica do protocolo com idosos residentes em Instituições de Longa Permanência para Idosos.

  8. Changing dietary habits among Akwen Xerente.

    PubMed

    Rocha, Tatiana Evangelista da Silva; Silva, Reijane Pinheiro da; Nascimento, Maira Messias do

    2016-06-01

    The research aimed to identify the current feed of Xerente people in Indian villages Porteira and Funil in the city of Tocantinia / TO. It was used a qualitative ethnographic approach. Conducted from September 2013 to August 2014. The data were presented in a diary, through participant observation of food practices with the guidance of a script. A process of dietary change that permeates the culture of this people is taking place. Factors such as the deficit in the planting gardens, the recent arrival of energy, and therefore the technology has allowed access to processed foods. But some families still maintain the farming of cassava, yam, and beans. The main animals that are hunted in the village are peccary, deer and armadillo. It was possible to point which foods are inserted in the Xerente feed and factors related to this situation. A pesquisa objetivou identificar a alimentação atual do povo Xerente, nas aldeias indígenas Porteira e Funil, no município de Tocantínia / TO. Utilizou-se uma abordagem etnográfica qualitativa. Realizada entre setembro de 2013 a agosto de 2014. Os dados foram descritos através de um diário de campo, por meio da observação das práticas alimentares com a orientação de um roteiro. Está ocorrendo um processo de mudança alimentar na cultura deste povo. Fatores como o déficit no plantio das roças, a chegada da energia, e consequentemente a tecnologia, permitiu o acesso a alimentos industrializados. Mas algumas famílias ainda mantem o cultivo de mandioca, inhame, feijão andu. Os principais animais que são caçados na aldeia são caititu, veado e tatu. Foi possível encontrar a presença de alimentos industrializados inseridos na alimentação do Xerente e isso tem provocado alterações nos hábitos desse povo.

  9. Knowledge and practice in mental health nursing care.

    PubMed

    Kurimoto, Teresa Cristina da Silva; Penna, Claudia Maria de Mattos; Nitkin, Débora Isane Ratner Kirschbaum

    2017-01-01

    To understand mental health nursing care based on the concept of the subject of the unconscious proposed by Lacan. A narrative study was carried out with 19 nurses, chosen based on their theoretical approach or referral by other participants, through the snowball sampling technique. The interviews were carried out in person or digitally, and were recorded and fully transcribed. The analysis was carried out based on Freudian and Lacanian psychoanalysis, approaching nursing care as it acts on the body, secretions, and excretions, to distinguish it from the spirit of fineness. Effects on care are discussed, considering the subject of the unconscious with its knowledge, creating unique exits (sinthome). In this situation, professionals are required to abstain from a position of knowing what is better for the Other. This nursing care perspective offers contributions when discussing the centrality of the subject and words in the care process. Compreender o cuidado de enfermagem em saúde mental a partir da concepção de sujeito do inconsciente proposta por Lacan. Pesquisa narrativa, realizada com 19 enfermeiros, determinados por meio de abordagem teórica ou indicação de outro participante, pela técnica de snowball. As entrevistas foram realizadas pessoalmente ou por meio digital, gravadas e transcritas na íntegra. Da análise, fundamentada na psicanálise freudiana e lacaniana, tomou-se o cuidado de enfermagem em seus atos sobre o corpo, suas secreções e excreções, para localizá-lo a partir do espírito de fineza. Discutem-se os efeitos para o cuidado quando se considera o sujeito do inconsciente com seu saber construindo saídas únicas - Sinthoma. Essa condição requer do profissional abster-se de uma posição de saber o que é melhor para o outro. Essa perspectiva de cuidado de enfermagem traz contribuições ao problematizar a centralidade do sujeito e da palavra nas práticas de cuidado.

  10. AIDS and jail: social representations of women in freedom deprivation situations.

    PubMed

    Trigueiro, Débora Raquel Soares Guedes; Almeida, Sandra Aparecida de; Monroe, Aline Aparecida; Costa, Gilka Paiva Oliveira; Bezerra, Valéria Peixoto; Nogueira, Jordana de Almeida

    2016-01-01

    To graspthe AIDS social representations built by freedom-deprived women. Descriptive study with a quali-quantitative approach that involved 174 convicted women in a women's prison in a capital city of the Brazilian northeastern region. Aword-association test was applied in October and November 2014, using AIDS as a stimulus. The corpuswas processed usingIramuteq software. Descending Hierarchical Classification and Correspondence Factor Analysis were applied. The content that comprises the social representation of AIDS was influenced by the prison context, which was pervaded by a lack of assistance, lack of knowledge, discrimination, and suffering that disclosed vulnerability to HIV/AIDS factors such as unprotected sex and object sharing. This underlines the stigma and fear of the illness, in addition to favoring and supporting negative feelings and a sense of rejection. To consider the use of this representational amalgam to ensure a comprehensive, contextualized care can help redirect practices, motivate self-care practices, and reduce prejudiced attitudes. Apreenderas representações sociais sobre a aids construídas por mulheres privadas de liberdade. Estudo descritivo, com abordagem quali-quantitativa que envolveu 174 apenadas de Presídio Feminino situado em capital do nordeste brasileiro. Aplicou-se o Teste de Associação Livre de Palavras, em outubro e novembro de 2014, utilizando-se do estímulo aids. O corpus foi processado pelo software Iramuteq, sendo efetuadas a Classificação Hierárquica Descendente e Análise Fatorial de Correspondência. Os conteúdos que compõem a representação social sobre aids são influenciados pelo contexto prisional, permeado dedesassistência, desconhecimento, discriminação e condições de sofrimento, revelando fatores de vulnerabilidade ao HIV/Aids como atividade sexual desprotegida e compartilhamento de objetos; reiterando o estigma e o temor à doença; e favorecendo e sustentando sentimentos negativos e de rejei

  11. Ensino de astronomia e óptica: é possível fazê-lo de forma contextualizada no nível médio?

    NASA Astrophysics Data System (ADS)

    Sobrinho, A. A.; Jafelice, L. C.

    2003-08-01

    Discutimos nossa participação em um curso de treinamento para professores de diversas disciplinas do ensino médio. Nossa preocupação básica foi desenvolver instrumentos educacionais adequados para levar à sala de aula, nesse nível de ensino, de forma contextualizada, questionamentos freqüentes dos alunos sobre astronomia e sua relação com tecnologia e sociedade. Encaminhamos questões como: a evolução da astronomia, suas relações com outros ramos do conhecimento humano e conseqüentes aplicações; avanços na tecnologia dos instrumentos ópticos versus a importância da observação do céu a olho nu; a relação entre olho humano, luneta e telescópio; e desenvolvimento da tecnologia espacial e sua influência em nosso cotidiano. Objetivamos com isto fazer um resgate histórico e pedagógico das aplicações e observações do céu no cenário escolar, destacando a relação entre eventos astronômicos, olho humano, instrumentos mediadores e suas contextualizações históricas e sociais. Produtos desta abordagem foram o desenvolvimento e a adaptação de práticas e materiais instrucionais diversos (e.g., "espelhos" de isopor e "raios luminosos" de bolinhas de gude; montagens envolvendo velas, lasers, lentes e espelhos; desmonte e análise de peças de um telescópio; etc.). Além disto, como outro resultado deste trabalho, elaboramos textos sobre história da astronomia e da óptica para atividades em classe. Com estas ações visamos facilitar a concretização de conceitos físicos envolvidos, exemplificar um ensino contextualizado e interdisciplinar motivado por temas astronômicos e favorecer que práticas e discussões feitas com os treinandos possam ser transpostas para a sala de aula. A reação dos professores às práticas propostas foi bastante positiva. Todos esses aspectos são discutidos em detalhe neste trabalho. (PPGECNM/UFRN; PRONEX/FINEP; NUPA/USP; Temáticos/FAPESP)

  12. Cosmoeducação: uma proposta para o ensino de astronomia

    NASA Astrophysics Data System (ADS)

    Medeiros, L. A. L.; Jafelice, L. C.

    2003-08-01

    Entende-se por cosmoeducação o desenvolvimento vivencial da unidade homem-cosmo. Este conceito é norteado pela psicologia transpessoal, que estuda o ser humano em sua totalidade, onde suas relações ecológicas e cósmicas são de grande importância. Constata-se uma necessidade latente no ser humano moderno em resgatar uma relação holística com o Universo. Neste trabalho exploramos meios de cultivar a consciência de que o ser humano constitui parte integrante do cosmo e se relaciona com este com o objetivo de promover em si uma percepção ambiental mais ampla. Nossa hipótese de trabalho inicial foi que o ensino de conteúdos básicos em astronomia realizado através de uma abordagem holística, que incorpore práticas vivenciais correlacionadas àqueles conteúdos, pode despertar no indivíduo sua identidade cósmica. O método que utilizamos é o fenomenológico e o universo desta pesquisa é um grupo de estudantes da disciplina de Astronomia (Curso de Licenciatura em Geografia/UFRN), onde realizamos observação participante, entrevistas, depoimentos e as práticas vivenciais mencionadas. Neste caso estamos desenvolvendo e adaptando exercícios de algumas técnicas terapêuticas de psicologia transpessoal, que um de nós (LALM) tem aplicado no contexto clínico, para trabalhar aspectos cognitivos envolvidos naquele processo de conscientização cósmica. Resultados parciais claramente referendam a hipótese inicial. Um resultado a destacar é fruto de uma dinâmica de representação corporal interiorizada do eclipse lunar, envolvendo um pequeno grupo daqueles estudantes, na qual conteúdos míticos afloraram de maneira espontânea e contundente para todos, sugerindo ressonância, ou pelo menos isomorfismo, entre o macro e o microcosmo. Este e outros resultados são discutidos em detalhe neste trabalho. (PPGECNM/UFRN; PRONEX/FINEP; NUPA/USP; Temáticos/FAPESP).

  13. Seismic ground motion scenarios in Lower Tagus Valley Basin

    NASA Astrophysics Data System (ADS)

    Borges, José; Torres, Ricardo; Furtado, José; Silva, Hugo; Caldeira, Bento; Pinto, Carlos; Bezzeghoud, Mourad; Carvalho, João

    2013-04-01

    Throughout its history the Lower Tagus Valley (LTV) has been struck by several earthquakes which produced important material damage and loss of lives: The 1st of November 1755 Lisbon earthquake and the 1969 earthquake (Mw=7.3), located in the SW Iberia Margin and the 1344, 1531 and 1909 (M= 6 to 7) with epicenter located inside the LTV basin. Since this region is the most highly populated region in Portugal, it is expected that an earthquake of similar magnitude of those that have occurred in the past will cause an enormous destruction and casualties. This fact makes LTV a high priority area for earthquake research in Portugal. In order to overcome the problems related to the absence of geological outcrops, low slip-rates (<0,4 mm/year) and the processes of sedimentation and erosion, we use in this work seismic reflection profiles, potential field data, soundings, wells and geological cartography to obtain a map of the main seismogenic structures and to characterize their seismic potential [1]. Moreover, a 3D structural model has been developed for de LTV based on Seismic reflection, Seismic Noise and potential field data [2,3]. In order to improve assessment of the seismic hazard in the LTV basin, we simulate long-period (0-1 Hz) ground motion time histories for a suite of scenarios earthquakes (Mw =5.5 to 7) within the basin, using fault geometries and the 3D seismic velocity structure based on the previous mentioned works. References [1] Pinto, Carlos C. (2011). Identification of Seismogenic Structures in the Lower Tagus Basin. Master Thesis, Universidade de Évora, 128 pp. [2] Torres, R.J.G., (2012). Modelo de velocidade da Bacia do Vale do Tejo: uma abordagem baseada no estudo do ruído sísmico ambiental, Master Thesis, Universidade de Évora, 83pp. [3] Furtado, J.A (2010). Confirmação do modelo da estrutura 3D do Vale Inverior do Tejo a partir de dados de ruído sísmico ambiente, Master Thesis, Universidade de Évora, 136pp.

  14. Using the Bologna Score to assess normal delivery healthcare.

    PubMed

    Carvalho, Isaiane da Silva; Brito, Rosineide Santana de

    2016-01-01

    Describing the obstetric care provided in public maternity hospitals during normal labour using the Bologna Score in the city of Natal, Northeastern Brazil. A quantitative cross-sectional study conducted with 314 puerperal women. Data collection was carried out consecutively during the months of March to July 2014. Prenatal care was provided to 95.9% of the mothers, beginning around the 1st trimester of pregnancy (72.3%) and having seven or more consultations (51%). Spontaneous vaginal delivery was planned for 88.2% women. All laboring women were assisted by a health professional, mostly by a physician (80.6%), and none of them obtained 5 points on the Bologna Score due to the small percentage of births in non-supine position (0.3%) and absence of a partogram (2.2%). A higher number of episiotomies were observed among primiparous women (75.5%). The score obtained using the Bologna Index was low. Thus, it is necessary to improve and readjust the existing obstetrical model. Descrever a assistência obstétrica prestada em maternidades públicas municipais durante o parto normal na cidade de Natal, Nordeste do Brasil, com uso do Índice de Bologna. Estudo transversal com abordagem quantitativa, desenvolvido com 314 puérperas. A coleta de dados processou-se de forma consecutiva durante os meses de março a julho de 2014. A assistência pré-natal foi prestada a 95,9% das puérperas, com início em torno do 1º trimestre de gestação (72,3%) e realização de sete ou mais consultas (51%). O parto vaginal espontâneo foi planejado para 88,2% mulheres. Todas as parturientes foram assistidas por um profissional de saúde, especialmente pelo médico (80,6%) e nenhuma obteve 5 pontos no Índice de Bologna em virtude dos baixos percentuais de partos em posição não supina (0,3%) e ausência do partograma (2,2%). Houve maior número de episiotomias em primíparas (75,5%). A pontuação obtida por meio do Índice de Bologna foi baixa. Desse modo, é preciso melhorar e

  15. Um enfoque antropológico para o ensino de astronomia no nível médio

    NASA Astrophysics Data System (ADS)

    Costa, G. B.; Jafelice, L. C.

    2003-08-01

    Há uma enorme carência de materiais didático-pedagógicos em astronomia para professores do ensino médio, sobretudo materiais que explorem também aspectos humanísticos. A origem do Universo é um bom exemplo desta constatação central. Embora tal origem teve explicações culturais diversas, os professores não têm informações sobre isso e muito menos material que trabalhe diferentes visões de mundo e treinamento que os capacite a abordá-las devidamente. Conseqüentemente o ensino de astronomia costuma ser tecnicista e dissociado do aspecto humano que alimenta o grande interesse e curiosidade que esses temas despertam. Aqui apresentamos propostas visando contribuir para reverter esse quadro e trabalhamos distintas visões de Universo: espontâneas, autóctones e científicas. Desenvolvemos práticas, materiais instrucionais e textos para viabilizar a adoção de um enfoque antropológico para o ensino de astronomia no nível médio, no qual as culturas humanística e científica sejam integradas de uma maneira contextualizada e eficaz para aquele ensino. Estas propostas foram aplicadas em um curso de treinamento para professores da rede pública de diferentes disciplinas. A receptividade dos professores à abordagem proposta e os resultados alcançados foram muito estimulantes. Destes, destacamos: produção de roteiros de atividades; desenvolvimento de práticas didático-pedagógicas específicas (e.g., encenação de mitos; dança primordial guarani; "criação" de constelações e interpretações pluriculturais; etc.); e sugestões concretas para a efetiva realização de um ensino interdisciplinar contextualizado, onde questões cosmogônicas servem de mote para iniciar tal ensino. Discutimos estes resultados e como o enfoque adotado pode instrumentalizar os professores para leituras de mundo que incluem naturalmente aspectos culturais, sociais e históricos associados aos temas estudados. (PPGECNM/UFRN; PRONEX/FINEP; NUPA/USP; Temáticos/FAPESP)

  16. Assessment of the usability of a digital learning technology prototype for monitoring intracranial pressure.

    PubMed

    Carvalho, Lilian Regina de; Évora, Yolanda Dora Martinez; Zem-Mascarenhas, Silvia Helena

    2016-08-29

    to assess the usability of a digital learning technology prototype as a new method for minimally invasive monitoring of intracranial pressure. descriptive study using a quantitative approach on assessing the usability of a prototype based on Nielsen's ten heuristics. Four experts in the area of Human-Computer interaction participated in the study. the evaluation delivered eight violated heuristics and 31 usability problems in the 32 screens of the prototype. the suggestions of the evaluators were critical for developing an intuitive, user-friendly interface and will be included in the final version of the digital learning technology. avaliar a usabilidade de um protótipo educacional digital sobre um novo método para monitoração da pressão intracraniana de forma minimamente invasivo para enfermeiros e médicos. estudo descritivo com abordagem quantitativa sobre a avaliação de usabilidade de um protótipo com base nas dez Heurísticas de Nielsen. Participaram quatro especialistas da área de Interação Humano Computador. a avaliação resultou em oito heurísticas violadas e 31 problemas de usabilidade nas 32 telas do protótipo. as sugestões dos avaliadores foram cruciais para o desenvolvimento de uma interface amigável e intuitiva e serão consideradas na versão final da tecnologia educacional digital. evaluar la usabilidad de un prototipo educacional digital sobre un nuevo método para monitorización de la presión intracraneal, de manera mínimamente invasiva. estudio descriptivo con abordaje cuantitativo sobre la evaluación de usabilidad de un prototipo con base en las diez reglas Heurísticas de Nielsen. Participaron cuatro especialistas del área de Interacción Humana Computador. la evaluación resultó en ocho reglas heurísticas violadas y 31 problemas de usabilidad en las 32 pantallas del prototipo. las sugestiones de los evaluadores fueron cruciales para el desarrollo de una interfaz amigable e intuitiva y éstas serán consideradas en la

  17. Evaluation of the performance of actions and outcomes in primary health care.

    PubMed

    Miclos, Paula Vitali; Calvo, Maria Cristina Marino; Colussi, Claudia Flemming

    2017-01-01

    The objective of this study has been to evaluate the performance of the primary care of Brazilian municipalities in relation to health actions and outcomes. This is an evaluative, cross-sectional research, with a quantitative approach, aimed at the identification of the efficiency frontier of the primary care in health actions and outcomes in Brazilian municipalities. Secondary data have been collected from the Programa Nacional de Melhoria do Acesso e da Qualidade da Atenção Básica (National Program for Improving Access and Quality of Primary Care) and the Department of Informatics of the Brazilian Unified Health System, in 2012. The data envelopment analysis tool has been used for variable returns to scale with product orientation. Municipalities have been analyzed by population size, and small municipalities have presented a high percentage of inefficiency for both models. The analysis of efficiency has indicated the existence of a higher percentage of effective municipalities in the model of health actions than in the model of health outcomes. Avaliar o desempenho da atenção básica dos municípios brasileiros quanto a ações e resultados em saúde. Pesquisa avaliativa, transversal, com abordagem quantitativa, para identificar a fronteira de eficiência da atenção básica em ações e resultados em saúde nos municípios brasileiros. Foi realizada coleta de dados secundários a partir do Programa Nacional de Melhoria do Acesso e da qualidade da Atenção Básica e do Departamento de Informática do Sistema Único de Saúde, no ano de 2012. Utilizou-se a ferramenta análise envoltória de dados para retornos variáveis de escala com orientação para produto. Os municípios foram analisados por porte populacional e verificou-se que para ambos os modelos, os municípios de pequeno porte apresentaram alto percentual de ineficiência. A análise da eficiência indicou a existência de um percentual maior de municípios eficientes no modelo de ações em sa

  18. Terms of the specialized nursing language for the care of ostomates.

    PubMed

    Carvalho, Carina Maris Gaspar; Cubas, Marcia Regina; Nóbrega, Maria Miriam Lima da

    2017-01-01

    to identify terms of the specialized nursing language for the care of ostomates from the literature of the area, and to map the identified terms with terms of the International Classification for Nursing Practice (ICNP®). descriptive study of quantitative approach guided by the guidelines for the elaboration of terminology subsets of the ICNP®. The terms were collected in 49 scientific articles, extracted using a computational tool, selected according to the relevance for the theme, and normalized and mapped with the ICNP®. 20,668 terms were extracted. The standardization process resulted in 425 relevant terms (151 were constant in ICNP® and 274 were not contained in ICNP®), of which 154 were similar, 19 were more comprehensive, 50 were more restricted, and 51 were not in concordance. the use of standardized language can minimize the ambiguities and redundancies identified in the mapping. The existence of terms not in concordance with the ICNP® reinforces the need for constant updating of this classification. identificar termos da linguagem especializada de enfermagem para o cuidado à pessoa ostomizada, a partir da literatura da área; e mapear os termos identificados com termos da Classificação Internacional para a Prática de Enfermagem (CIPE®). étodo: pesquisa descritiva, de abordagem quantitativa, orientada pelas diretrizes para a elaboração de subconjuntos terminológicos da CIPE®. Os termos foram coletados em 49 artigos científicos, extraídos com uso de ferramenta computacional, selecionados de acordo com a pertinência ao tema, normalizados e mapeados com a CIPE®. foram extraídos 20.668 termos. A normalização resultou em 425 termos pertinentes, sendo: 151 termos constantes e 274 não constantes na CIPE®; dos quais 154 similares, 19 mais abrangentes, 50 mais restritos e 51 sem concordância. o uso de linguagem padronizada pode minimizar ambiguidades e redundâncias identificadas no mapeamento. A existência de termos sem concordância com

  19. Weaving the West Psychosocial Care Network of the municipality of São Paulo.

    PubMed

    Nóbrega, Maria do Perpétuo Socorro de Sousa; Domingos, Alessandra Matheus; Silveira, Ana Stella de Azevedo; Santos, Jussara Carvalho Dos

    2017-01-01

    to understand how health service professionals involved in the care of users in psychic distress perceive the organization of the Psychosocial Care Network (RAPS - Rede de Atenção Psicossocial) in the western region of the city of São Paulo. qualitative approach study conducted with 123 professionals with higher education who work in the care points of the network. A semi-structured interview was performed and data were submitted to the Alceste program for lexical analysis. the network is in process of alignment with the mental health policy and the psychosocial rehabilitation strategy. However, the weaknesses in the work process of teams are related to deficits in human resources, structure, and communication, and to the limited appropriation of their guidelines. there are intense efforts of workers to weave the network, and barriers need to be overcome to support successful actions in mental health care in the territory. compreender como profissionais de serviços de saúde envolvidos no cuidado dos usuários em sofrimento psíquico percebem a organização da Rede de Atenção Psicossocial (RAPS) da região Oeste do Município de São Paulo. abordagem qualitativa realizada com 123 profissionais de nível superior que atuam nos pontos de atenção da rede. Realizou-se entrevista semiestruturada e os dados foram submetidos ao programa Alceste com aplicação de análise lexical. A rede está em processo de alinhamento com a política de saúde mental e estratégia de reabilitação psicossocial. No entanto, há fragilidades no processo de trabalho das equipes relacionadas ao déficit de recursos humanos, estruturais, de comunicação, e à apropriação limitada sobre suas diretrizes. Compreendeu-se que há intensidade de esforços dos trabalhadores para tecer a rede e que é necessário superar barreiras para fomentar ações exitosas no cuidado em saúde mental no território.

  20. Abundância química de simbióticas na direção do bojo galáctico

    NASA Astrophysics Data System (ADS)

    Luna, G. J. M.; Costa, R. D. D.

    2003-08-01

    O estudo da distribuição de metalicidades de gigantes K no Bojo indica um largo intervalo com valores entre 0.1 a 10 vezes o valor solar. As razões elementais Ca/Fe, Si/Fe, Mg/Fe são típicas de estrelas do halo, apontando para um processo rápido de enriquecimento, via estrelas masssivas (SN's tipo II). No entanto, este cenário não combina com os resultados derivados de nebulosas planetárias do bojo tais como os de Ratag et al. (1992, A&A,255,270), Cuisinier et al.(2000, A&A,353, 543), Escudero e Costa (2001, A&A,380, 300),que obtêm abundâncias análogas às do disco. Neste cenário, o estudo de estrelas simbióticas possibilita uma abordagem particularmente apropriada para o problema das abundâncias químicas de estrelas de massa intermediária em estágios avançados da evoluçao estelar. Apresentamos aqui os resultados da determinacão das abundâncias do grupo do CNO numa extensa amostra de simbióticas do bojo. Aliás, com a disponibilidade de espectros no visível determinamos também abundâncias de Ar, Ne, S e He, fundamentais para analisar os processos de enriquecimento químico ocorridos ao longo da evolução estelar, bem como a evolução química do meio interestelar. Com os espectros UV do satelite IUE obtivemos abundâncias de C, necessárias no estudo da evolução dos sistemas. As relaçoes C/N-O/N mostram que o material nebular é produto do vento da componente gigante e não dos eventos de nova que às vezes acontecem nestes sistemas, como foi mostrado por Nussbaumer et al (1988,A&A,198,179). As abundâncias de Ar, S, Ne e O são compativeis com resultados de fontes no disco e bojo, seguindo o gradiente proposto por muitos autores na literatura a partir de diferentes objetos como cefeidas, nebulosas planetárias e anãs G. (CAPES,FAPESP,CNPq)

  1. Estudo de propriedades estruturais e opticas de multicamadas epitaxiais emissoras de luz baseadas em InGaN/GaN

    NASA Astrophysics Data System (ADS)

    Pereira, Sergio Manuel de Sousa

    Esta tese apresenta os resultados de uma investigacao experimental em filmes epitaxiais emissores de luz baseados em InxGa1-xN. O InxGa1-xN e uma liga semicondutora ternaria do grupo III-N muito utilizada como camada activa numa gama de dispositivos optoelectronicos em desenvolvimento, incluindo diodos emissores de luz (LEDs) e diodos laser (LDs), para operacao na regiao do visivel e ultravioleta do espectro electromagnetico. Neste estudo, caracterizam-se as propriedade opticas e estruturais de camadas simples e pocos quânticos multiplos (Multiple Quantum Wells, MQWs) de InxGa1-xN/GaN, com enfase nas suas propriedades fisicas fundamentais. O objectivo central do trabalho prende-se com a compreensao mais profunda dos processos fisicos que estao por tras das suas propriedades opticas, preenchendo o fosso existente entre aplicacoes tecnologicas e o conhecimento cientifico. Nomeadamente, a tese aborda os problemas da medicao da fraccao de InN (x) em multicamadas ultrafinas sujeitas a tensoes, a influencia da composicao e das tensoes microscopicas nas propriedades opticas e estruturais. A questao relativa a segregacao de fases em multicamadas de InxGa1-xN/GaN e tambem discutida a luz dos resultados obtidos. A metodologia seguida assenta na integracao de resultados obtidos por tecnicas complementares atraves de uma analise sistematica e multidisciplinar. Esta abordagem passa pela combinacao de: 1) Crescimento de amostras por deposicao epitaxial em fase de vapor organometalico (MOVPE) com caracteristicas especificas de forma a tentar isolar parâmetros estruturais, tais como espessura e composicao; 2) Caracterizacao nanoestrutural por microscopia de forca atomica (AFM), microscopica electronica de varrimento (SEM), difraccao de raios-X e retro-dispersao de Rutherford (RBS); 3) Caracterizacao optica a escalas complementares por: espectroscopia de absorcao optica (OA), fotoluminescencia (PL), catodoluminescencia (CL) e microscopia confocal (CM) com analise espectral. Com

  2. Moral Distress in Family Health Strategy: experiences expressed by daily life.

    PubMed

    Cardoso, Cecília Maria Lima; Pereira, Maria Odete; Moreira, Danielle de Araújo; Tibães, Hanna Beatriz Bacelar; Ramos, Flávia Regina Souza; Brito, Maria José Menezes

    2016-06-01

    Understanding the Moral Suffering experiences expressed in the daily life of the Family Health Strategy. This is a case study with a qualitative approach, conducted between August and October 2014 in a municipality of Minas Gerais. The sample was represented by 28 professionals of family health teams. Data were collected through interviews with semi-structured questionnaires, observation, projective technique and submitted to thematic content analysis. The results indicate that routine issues of the health care system lead professionals to experience a challenging practice in dealing with daily situations that contradict their ethical precepts and can compromise the quality of work, becoming triggers of Moral Distress. Social vulnerabilities such as domestic violence, poor socioeconomic conditions and organizational weaknesses of the health system were the main triggers of Moral Distress. Therefore, it is necessary to amplify this reflection by workers of the Family Health Strategy, aiming to encourage the minimization of suffering experiences, considering their ethical values. Compreender as vivências de Sofrimento Moral expressas no cotidiano da Estratégia de Saúde da Família. Trata-se de um estudo de caso com abordagem qualitativa, realizado entre os meses de agosto a outubro de 2014, cujo cenário foi um município de Minas Gerais. Participaram 28 profissionais das equipes de saúde da família. Os dados foram coletados por meio de entrevistas com roteiro semiestruturado, observação, técnica projetiva e, submetidos à análise de conteúdo temática. Os resultados apontaram que as questões rotineiras do serviço de saúde levam os profissionais a vivenciarem uma prática desafiadora ao lidarem diariamente com situações que contradizem seus preceitos éticos capazes de comprometer a qualidade do trabalho tornando-se disparadores de Sofrimento Moral. As vulnerabilidades sociais, como violência doméstica e condições socioeconômicas precárias, al

  3. Microstructure design of titanate-based electroceramics =

    NASA Astrophysics Data System (ADS)

    Amaral, Luis Miguel de Almeida

    Electrocerâmicos sao uma classe de materiais avancados com propriedades electricas valiosas para aplicacoes. Estas propriedades sao geralmente muito dependentes da microestrutura dos materiais. Portanto, o objectivo geral deste trabalho e investigar o desenho da resposta dielectrica de filmes espessos obtidos por Deposicao Electroforetica (EPD) e cerâmicos monoliticos, atraves do controlo da evolucao da microestrutura durante a sinterizacao de electrocerâmicos a base de titanatos. Aplicacoes sem fios na industria microelectronica e de comunicacoes, em rapido crescimento, tornaram-se um importante mercado para os fabricantes de semicondutores. Devido a constante necessidade de miniaturizacao, reducao de custos e maior funcionalidade e integracao, a tecnologia de filmes espessos esta a tornar-se uma abordagem de processamento de materiais funcionais cada vez mais importante. Uma tecnica adequada neste contexto e EPD. Os filmes espessos resultantes necessitam de um passo subsequente de sinterizacao que e afectada pelo substrato subjacente, tendo este um forte efeito sobre a evolucao da microestrutura. Relacionado com a miniaturizacao e a discriminacao do sinal, materiais dielectricos usados como componentes operando a frequencias das microondas em aplicacoes na industria microelectronica de comunicacoes devem apresentar baixas perdas dielectricas e elevadas permitividade dielectrica e estabilidade com a temperatura. Materiais do sistema BaO-Ln2O3- TiO2 (BLnT: Ln = La ou Nd), como BaLa4Ti4O15 (BLT) e Ba4.5Nd9Ti18O54 (BNT), cumprem esses requisitos e sao interessantes para aplicacoes, por exemplo, em estacoes de base para comunicacoes moveis ou em ressonadores para telefones moveis, onde a miniaturizacao dos dispositivos e muito importante. Por sua vez, o titanato de estroncio (SrTiO3, STO) e um ferroelectrico incipiente com constante dielectrica elevada e baixas perdas, que encontra aplicacao em, por exemplo, condensadores de camada interna, tirando partido de

  4. Paradox of life among survivors of bladder cancer and treatments.

    PubMed

    Lopes, Miriam; Nascimento, Lucila Castanheira; Zago, Márcia Maria Fontão

    2016-04-01

    To interpret the meanings attributed to the experience of bladder cancer among survivors in therapeutic follow-up. Qualitative methodological approach, based on medical anthropology and narrative methodology. After approval by the research ethics committee of a public university hospital, data were collected from January 2014 to February 2015, by means of recorded semi-structured interviews, direct observation and field journal entries on daily immersion with a group of six men and six women, aged between 57 and 82 years, in therapeutic follow-up. Narratives were analyzed by means of inductive thematic analysis. The meanings revealed difficulties with the processes of disease and treatment, such as breakdown of normal life, uncertainty about the future due to possible recurrence of the disease, difficulty with continuity of care and emotional control, relating it to conflicting ways of understanding the present life. Thus, the meaning of this narrative synthesis is paradox. Interpretation of the meaning of experience with bladder cancer among patients provides nurses with a comprehensive view of care, which encompasses biological, psychological and social dimensions, and thereby systematizes humanized care. Interpretar o significado atribuído à experiência do câncer de bexiga entre sobreviventes em seguimento terapêutico. Empregou-se a abordagem metodológica qualitativa, embasado pela antropologia médica e método narrativo. Após aprovação do Comitê de Ética, os dados foram coletados de janeiro 2014 a fevereiro de 2015, por meio de entrevistas semiestruturadas gravadas, observação direta e registros no diário de imersão com grupo de seis homens e seis mulheres, entre 57 e 82 anos, em seguimento terapêutico em um hospital público universitário. As narrativas foram analisadas por meio da análise temática indutiva. Os sentidos revelam as dificuldades com o processo da doença e do tratamento, como rupturas na vida, futuro incerto pela

  5. Geriatric care: ways and means of providing comfort.

    PubMed

    Ribeiro, Patricia Cruz Pontifice Sousa Valente; Marques, Rita Margarida Dourado; Ribeiro, Marta Pontifice

    2017-01-01

    To know the ways and means of comfort perceived by the older adults hospitalized in a medical service. Ethnographic study with a qualitative approach. We conducted semi-structured interviews with 22 older adults and participant observation of care situations. The ways and means of providing comfort are centered on strategies for promoting care mobilized by nurses and recognized by patients(clarifying/informing, positive interaction/communication, music therapy, touch, smile, unconditional presence, empathy/proximity relationship, integrating the older adult or the family as partner in the care, relief of discomfort through massage/mobilization/therapy) and on particular moments of comfort (the first contact, the moment of personal hygiene, and the visit of the family), which constitute the foundation of care/comfort. Geriatric care is built on the relationship that is established and complete with meaning, and is based on the meeting/interaction between the actors under the influence of the context in which they are inserted. The different ways and means of providing comfort aim to facilitate/increase care, relieve discomfort and/or invest in potential comfort. Conhecer os modos e formas de confortar percecionadas pelos idosos hospitalizados num serviço de medicina. Estudo etnográfico com abordagem qualitativa. Realizamos entrevistas semiestruturadas com 22 doentes idosos e observação participante nas situações de cuidados. Os modos e formas de confortar centram-se em estratégias promotoras de conforto mobilizadas pelo enfermeiro e reconhecidas pelos doentes (informação/esclarecimento, interação/comunicação positiva, toque, sorriso, presença incondicional, integração do idoso/família nos cuidados e o alívio de desconfortos através da massagem/mobilização/terapêutica) e em momentos particulares de conforto (contato inaugural, visita da família., cuidados de higiene e arranjo pessoal), que se constituem como alicerces do cuidar

  6. Relational technologies as instruments of care in the Family Health Strategy.

    PubMed

    Abreu, Tatiana Fernandes Kerches de; Amendola, Fernanda; Trovo, Monica Martins

    2017-01-01

    This article aims to identify the relational technologies used by Family Health Strategy nurses in their daily work when treating patients. Descriptive and cross-sectional study with qualitative approach; conducted between May and July 2015, in three Basic Health Units of the Southern Region of the Municipality of São Paulo, with 19 nurses of the Family Health Strategy. Data were collected through a semi-structured interview, and the speeches were fully transcribed and analyzed according to the technique of content analysis. From the speeches of the participants, three categories emerged, showing the unawareness of the concept, but the valorization of its use; which are the relational technologies used by the participating nurses (communication, listening, empathy and welcoming reception), as well as the report of barriers to the use of relational technologies. Although the nurses value the use of relational technologies, the participants denoted unawareness of the nomenclature and its associated concepts, suggesting superficiality in the understanding and use of these instruments in the context of care in the Family Health Strategy. Identificar as tecnologias relacionais utilizadas por enfermeiros de Estratégia Saúde da Família em seu cotidiano de trabalho no atendimento aos usuários. Estudo descritivo, transversal, com abordagem qualitativa; desenvolvido entre maio e julho de 2015, em três Unidades Básicas de Saúde da Região Sul do Município de São Paulo, com 19 enfermeiros da Estratégia Saúde da Família. Os dados foram coletados por meio de entrevista semiestruturada, e os discursos foram transcritos na íntegra, analisados segundo a técnica de análise de conteúdo. Das falas dos participantes, surgiram três categorias, que evidenciam o desconhecimento do conceito, mas valorização do uso; quais são as tecnologias relacionais utilizadas pelos enfermeiros participantes (comunicação, escuta, empatia e acolhimento), além do relato de barreiras

  7. Understanding the curriculum the light of training guiding health in Brazil.

    PubMed

    Moraes, Bibiana Arantes; Costa, Nilce Maria da Silva

    2016-06-01

    To analyze Pedagogical Projects Courses (PPCs) from the healthcare field in light of the National Curriculum Standards (NCS) policies on healthcare training. Exploratory descriptive study of qualitative approach, in which were carried out analyzes of PPPs of Nursing, Pharmacy, Medicine, Nutrition and Dentistry of a federal university in the Midwest region of Brazil. As technical analysis of documentary sources, adopted the content analysis in the thematic mode. The analysis of PPC showed the general aspects of PPC as the course features the historical percursso and construction, professional skills and competences required for professional performance and the guiding principles of formation characterized by technical, professional practice, articulation theory/ practice, interdisciplinarity and ethical / social training. PPC presented is consistent with the proposals set out in DCN and carry training policies in health in Brazil, providing adequate training for health professionals, the demands of the population and the National Health System. Analisar os Projetos Pedagógicos de Cursos (PPC) da área da saúde à luz das Diretrizes Curriculares Nacionais (DCN) e das políticas indutoras de formação em saúde do Brasil. Pesquisa descritiva exploratória de abordagem qualitativa, na qual foram realizadas análises dos PPC dos cursos de Enfermagem, Farmácia, Medicina, Nutrição e Odontologia de uma instituição federal de ensino superior da região Centro-Oeste do Brasil. Como técnica de análises das fontes documentais, adotou-se a análise de conteúdo, na modalidade temática. As análises dos PPC evidenciaram os aspectos gerais dos PPC como as características do curso, o percursso histórico e sua construção, habilidades e competências profissionais requeridas para o desempenho profissional e os princípios norteadores da formação caracterizados pela técnica, prática profissional, articulação teoria/prática, interdisciplinaridade e formação

  8. The development of communication skills and the teacher's performance in the nursing student's perspective.

    PubMed

    Oliveira, Karime Rodrigues Emilio de; Braga, Eliana Mara

    2016-06-01

    To understand experiences in the development of communication skills and the teacher's role in this teaching-learning process under the perspective of undergraduate nursing students by considering two types of curriculum organization. Descriptive study with a qualitative approach conducted in two public schools located in São Paulo state, Brazil. Data were collected by means of self-completed forms from 81 students in the second and fourth years of the undergraduate program. Results were analyzed in light of Content Analysis. Results showed that the development of such skills is related to: students' individual characteristics, patients' characteristics, those of the health-disease process, the health-care team's profile and the theoretical knowledge acquired on communication in health-care provision and nursing. The teacher's role was perceived as one that supports and encourages interactions with patients and health-care teams by teaching and providing orientation about interpersonal communication. Students identify and value the importance of their teachers' performance in the development and acquisition of communication skills. Additionally, students who experience active teaching-learning methodologies acknowledge the teacher as essential to provide opportunities for students to express their knowledge and thoughts. Compreender, sob a ótica de graduandos de enfermagem, as experiências no desenvolvimento de habilidades comunicativas e a atuação do professor neste processo de ensino-aprendizagem, considerando dois tipos de organização curricular. Pesquisa descritiva com abordagem qualitativa, realizada em duas instituições de ensino públicas, situadas no interior do estado de São Paulo, Brasil. A coleta dos dados foi realizada pelo autopreenchimento de formulário por 81 alunos de segundo e quartos anos da graduação. Os resultados foram analisados à luz da Análise de Conteúdo. Revelaram que o desenvolvimento desta habilidade está relacionado

  9. Velocity and structural model of the Lower Tagus Basin according to the study of environmental seismic noise

    NASA Astrophysics Data System (ADS)

    Gomes Torres, Ricardo Jorge; Furtado, José Augusto; Gonçalves Silva, Hugo; Borges, José Fernando; Caldeira, Bento; Bezzeghoud, Mourad; Carvalho, João

    2013-04-01

    ] Torres, R.J.G., (2012). Modelo de velocidade da Bacia do Vale do Tejo: uma abordagem baseada no estudo do ruído sísmico ambiental, Master Thesis, Universidade de Évora, 83pp. [3] Nakamura, Y., 1989. A method for dynamic characteristics estimations of subsurface using microtremors on the ground surface, Quarterly Report, RTRI, Japan, v. 30, p. 25-33. [4] J.A. Furtado, Confirmação do modelo da estrutura 3D do Vale Inverior do Tejo a partir de dados de ruído sísmico ambiente, Master Thesis, Universidade de Évora, 136pp, 2010.

  10. The family experience of care in chronic situation.

    PubMed

    Bellato, Roseney; Araújo, Laura Filomena Santos de; Dolina, Janderléia Valéria; Musquim, Cleciene Dos Anjos; Corrêa, Geovana Hagata de Lima Souza Thaines

    2016-06-01

    An essay that aims to reflect on the family experience of care in chronic situation, increasing the understanding of the family as the primary caregiver. It is based on comprehensive approach in studies conducted in three matrix searches from family care experiences. We have taken three axes to organize our reflections: a) conformation of family care in chronic situation, highlighting the multiple costs incurred to the family, which can exhaust the potential of care and establish or increase its vulnerability if it is not backed by networks support and sustenance; b) family rearrangements for the care, giving visibility to care cores in which many loved family members share the care, dynamic, plural and changeable way; c) self care modeling family care, pointing to the range of possibilities of the person taking care of diseased conditions supported by people close to them. We learn that the family takes care of itself in everyday life and in the illness experience, creating networks that can provide you support and sustenance. Thus, professionals in health practices should shape up in a longitudinal and very personal way, by reference to the family care, supporting him in what is his own. Ensaio que tem por objetivo refletir sobre a experiência familiar de cuidado na situação crônica, ampliando a compreensão da família como cuidadora primária. Embasa-se em estudos de abordagem compreensiva realizados em três pesquisas matriciais que abordaram experiências familiares de cuidado. Tomamos três eixos para organizar nossas reflexões: a) conformação do cuidado familiar na situação crônica, destacando os múltiplos custos gerados à família, que podem exaurir seus potenciais de cuidado, instaurando ou ampliando sua vulnerabilidade se não for amparada por redes de apoio e sustentação; b) rearranjos familiares para o cuidado, dando visibilidade aos núcleos de cuidado compartilhados pelos diversos entes familiares, de modo dinâmico, plural e mut

  11. Mouthpiece ventilation in Duchenne muscular dystrophy: a rescue strategy for noncompliant patients.

    PubMed

    Fiorentino, Giuseppe; Annunziata, Anna; Cauteruccio, Rosa; Frega, Gianfranco Scotto di; Esquinas, Antonio

    2016-01-01

    interface bucal sempre deve ser considerado em pacientes com DMD que necessitam iniciar VNI a fim de promover uma abordagem positiva e uma rápida aceitação da VNI. O uso diurno de VB faz com que os pacientes sintam-se seguros e mais propensos a utilizar VNI à noite. Além disso, a VB aumenta a adesão ao tratamento naqueles pacientes que se recusam a utilizar outros tipos de interfaces.

  12. Nurses in post-operative heart surgery: professional competencies and organization strategies.

    PubMed

    Santos, Ana Paula Azevedo; Camelo, Silvia Helena Henriques; Santos, Fabiana Cristina Dos; Leal, Laura Andrian; Silva, Beatriz Regina da

    2016-01-01

    To analyze nurses' competencies with regard to their work in post-operative heart surgery and the strategies implemented to mobilize these competencies. This was an exploratory study with a qualitative approach and a methodological design of collective case study. It was carried out in three post-operative heart surgery units, consisting of 18 nurses. Direct observation and semi-structured interviews were employed to collect data. Data were construed through thematic analysis. nine competencies were found, as follows: theoretical-practical knowledge; high-complexity nursing care; nursing supervision; leadership in nursing; decision making; conflict management; personnel management; material and financial resources management; and on-job continued education. Organizational and individual strategies were employed to develop and improve competencies such as regular offerings of courses and lectures, in addition to the individual pursuit for knowledge and improvement. the study is expected to lead future nurses and training centers to evaluate the need for furthur training required to work in cardiac units, and also the need for implementing programs aimed at developing the competencies of these professionals. Analisar as competências dos enfermeiros para atuarem no pós-operatório de cirurgia cardíaca e estratégias implementadas para a mobilização dessas competências. Estudo exploratório, com abordagem qualitativa e desenho metodológico estudo de caso coletivo. Foi realizado em três unidades pós-operatórias de cirurgias cardíacas, com 18 enfermeiros. Na coleta de dados utilizou-se observação direta e entrevista semiestruturada. Para interpretação dos dados optou-se pela análise temática. Foram identificadas nove competências, sendo: conhecimento teórico-prático, cuidados de enfermagem de alta complexidade, supervisão e liderança em enfermagem, tomada de decisão, gerenciamento de conflitos, de recursos humanos, materiais, financeiros e educa

  13. Analysis of obese patients' medical conditions in the pre and postoperative periods of bariatric surgery.

    PubMed

    Rêgo, Anderson DA Silva; Zulin, Aline; Scolari, Sandro; Marcon, Sônia Silva; Radovanovic, Cremilde Aparecida Trindade

    2017-01-01

    to compare the clinical conditions of obese patients in the pre and postoperative period of bariatric surgery. we carried out a descriptive, retrospective, quantitative study by consulting the charts of 134 patients who underwent bariatric surgery in the period from 2009 to 2014. We collected the data between September and November 2015. We performed a descriptive statistical analysis and comparative analysis of anthropometric, metabolic, biochemical and clinical variables, considering six months before and after surgery. the majority of the patients were female (91.8%), with a higher prevalence (35%) in the age group 18-29 years old, complete high-school education (65.6%) and grade III obesity (60.4%). Six months after surgery, weight and lipid profile reduction were significant in both genders, but the impact on biochemical, anthropometric, metabolic and clinical parameters was significant only in female subjects, with a reduction in morbidities associated with obesity, such as arterial hypertension, diabetes mellitus, dyslipidemia and metabolic syndrome and in the use of drugs to control them. bariatric surgery was effective in weight loss, with improvements in anthropometric, metabolic and biochemical parameters and in the reduction of morbidities associated with obesity. comparar as condições clínicas de pacientes obesos em período pré e pós-operatório de cirurgia bariátrica. estudo descritivo, retrospectivo, de abordagem quantitativa, por meio de consulta ao prontuário de 134 pacientes submetidos à cirurgia bariátrica no período de 2009 a 2014. Os dados foram coletados entre os meses de setembro e novembro de 2015. Foi realizada análise estatística descritiva e comparativa das variáveis antropométricas, metabólicas, bioquímicas e clínicas, considerando seis meses antes e após a cirurgia. a maioria dos pacientes era do sexo feminino (91,8%), com maior prevalência (35%) na faixa etária de 18 aos 29 anos, com ensino médio completo (65

  14. Cross-cultural adaptation and validation of the teamwork climate scale.

    PubMed

    Silva, Mariana Charantola; Peduzzi, Marina; Sangaleti, Carine Teles; Silva, Dirceu da; Agreli, Heloise Fernandes; West, Michael A; Anderson, Neil R

    2016-08-22

    To adapt and validate the Team Climate Inventory scale, of teamwork climate measurement, for the Portuguese language, in the context of primary health care in Brazil. Methodological study with quantitative approach of cross-cultural adaptation (translation, back-translation, synthesis, expert committee, and pretest) and validation with 497 employees from 72 teams of the Family Health Strategy in the city of Campinas, SP, Southeastern Brazil. We verified reliability by the Cronbach's alpha, construct validity by the confirmatory factor analysis with SmartPLS software, and correlation by the job satisfaction scale. We problematized the overlap of items 9, 11, and 12 of the "participation in the team" factor and the "team goals" factor regarding its definition. The validation showed no overlapping of items and the reliability ranged from 0.92 to 0.93. The confirmatory factor analysis indicated suitability of the proposed model with distribution of the 38 items in the four factors. The correlation between teamwork climate and job satisfaction was significant. The version of the scale in Brazilian Portuguese was validated and can be used in the context of primary health care in the Country, constituting an adequate tool for the assessment and diagnosis of teamwork. Adaptar e validar a escala Team Climate Invetory, de medida do clima de trabalho em equipe, para o idioma português, no contexto da atenção primária à saúde no Brasil. Estudo metodológico com abordagem quantitativa de adaptação transcultural (tradução, retrotradução, síntese, comitê de especialistas e pré-teste) e validação com 497 trabalhadores de 72 equipes da Estratégia Saúde da Família no município de Campinas, São Paulo. Verificou-se confiabilidade pelo alfa de Cronbach, validade de construto pela análise fatorial confirmatória pelo software SmartPLS e correlação com escala de satisfação no trabalho. Foi problematizado a sobreposição dos itens 9, 11 e 12 do fator participa

  15. Primary Health Care: care coordinator in regionalized networks?

    PubMed

    Almeida, Patty Fidelis de; Santos, Adriano Maia Dos

    2016-12-22

    To analyze the breadth of care coordination by Primary Health Care in three health regions. This is a quantitative and qualitative case study. Thirty-one semi-structured interviews with municipal, regional and state managers were carried out, besides a cross-sectional survey with the administration of questionnaires to physicians (74), nurses (127), and a representative sample of users (1,590) of Estratégia Saúde da Família (Family Health Strategy) in three municipal centers of health regions in the state of Bahia. Primary Health Care as first contact of preference faced strong competition from hospital outpatient and emergency services outside the network. Issues related to access to and provision of specialized care were aggravated by dependence on the private sector in the regions, despite progress observed in institutionalizing flows starting out from Primary Health Care. The counter-referral system was deficient and interprofessional communication was scarce, especially concerning services provided by the contracted network. Coordination capacity is affected both by the fragmentation of the regional network and intrinsic problems in Primary Health Care, which poorly supported in its essential attributes. Although the health regions have common problems, Primary Health Care remains a subject confined to municipal boundaries. Analisar o alcance da coordenação do cuidado pela Atenção Primária à Saúde em três regiões de saúde. Trata-se de estudo de caso, com abordagem quantitativa e qualitativa. Foram realizadas 31 entrevistas semiestruturadas com gestores municipais, regionais e estaduais e estudo transversal com aplicação de questionários para médicos (74), enfermeiros (127) e amostra representativa de usuários (1.590) da Estratégia Saúde da Família em três municípios-sede de regiões de saúde do estado da Bahia. A função de porta de entrada preferencial pela Atenção Primária à Saúde deparava-se com forte concorrência de servi

  16. Fatigue in children and adolescents with cancer from the perspective of health professionals.

    PubMed

    Silva, Michele Cristina Miyauti da; Lopes, Luís Carlos; Nascimento, Lucila Castanheira; Lima, Regina Aparecida Garcia de

    2016-08-29

    to investigate health professionals' knowledge about the concept, assessment and intervention in fatigue in children and adolescents with cancer. exploratory study with qualitative approach, with 53 health professionals (10 nurses, 33 assistant nurses, 3 physicians, 3 nutritionists, 2 psychologists and 2 physical therapists). Semi structured interviews were held, which were recorded and analyzed by means of inductive thematic content analysis. the data were organized around three themes: knowledge of health professionals about fatigue; identification of fatigue and interventions to relieve fatigue. the results indicate the health professionals' limited knowledge about fatigue, as well as the lack of investment in their training and continuing education. Most of all, the lack of research on the theme in the Brazilian context remains a barrier to support improvements in care for this symptom in children and adolescents with cancer. investigar quais conhecimentos os profissionais de saúde têm acerca do conhecimento, avaliação e intervenção sobre a fadiga em crianças e adolescentes com câncer. estudo exploratório com abordagem qualitativa, realizado com 53 profissionais de saúde (10 enfermeiros, 33 auxiliares de enfermagem, 3 médicos, 3 nutricionistas, 2 psicólogos e 2 fisioterapeutas). Foram conduzidas entrevistas semiestruturadas as quais foram gravadas e analisadas por meio do modelo de análise de conteúdo do tipo temática indutiva. os dados foram organizados ao redor de três temas: conhecimento dos profissionais da saúde sobre fadiga; identificação da fadiga e intervenções para o alívio da fadiga. os achados apontam para o conhecimento limitado dos profissionais de saúde sobre fadiga, bem como para o pouco investimento em educação continuada e permanente. Sobretudo, a escassez de estudos sobre o assunto no cenário brasileiro ainda é uma barreira para oferecer subsídios para melhoria deste sintoma em crianças e adolescentes com c

  17. 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

    particular, é foco deste ensaio: a astronomia. Em que sentido e em que medida valeria a pena abordá-la em aulas, seja de ciências, seja de astronomia especificamente, ou em disciplinas afins? Discutimos neste texto alguns aspectos das vantagens de se tratar essa área do conhecimento nas escolas, levando em conta as dimensões epistemológica e axiológica da astronomia, à luz da visão da ciência como um diálogo inteligente com o mundo, de Bachelard, além da proposta de problematização do conhecimento, de Paulo Freire. Proporemos que de fato a astronomia não precisa ser vista como apenas um novo conjunto de conteúdos a serem ensinados, mas figura como conjunto de temas motivadores para discussões histórico-filosóficas, além de permitir a abordagem de conceitos típicos de outras disciplinas.

  18. Comparative study of knowledge about oral cancer among undergraduate dental students.

    PubMed

    Silva, Samara Ribeiro da; Juliano, Yara; Novo, Neil Ferreira; Weinfeld, Ilan

    2016-01-01

    ,05. Somente 8,0% do Grupo A e 56,0% do Grupo B julgaram o sexo masculino como aquele frequentemente acometido pela lesão (p=0,0006). Em relação à faixa etária, 84,0% do Grupo B e 44,0% do Grupo A estimaram que a maioria dos casos era diagnosticada acima dos 40 anos (p=0,0072). O tabagismo foi apontado como principal fator de risco por 64,0% e 91,6% dos alunos dos Grupos A e B, respectivamente (p=0,0110). Nas questões referentes a sexo, etnia, faixa etária, fatores de risco, autoexame, tratamento, profissional responsável pelo tratamento e perfil de um indivíduo portador da lesão, os alunos do sétimo semestre apresentaram percentagens de respostas corretas significantemente maiores que as dos discentes do primeiro semestre. Houve significativa concordância entre os erros e acertos dos discentes do primeiro e sétimo semestres, sendo necessária uma abordagem específica direcionada à deficiência por eles apresentadas.

  19. MINIMALLY INVASIVE SURGERY FOR GASTRIC CANCER: TIME TO CHANGE THE PARADIGM.

    PubMed

    Barchi, Leandro Cardoso; Jacob, Carlos Eduardos; Bresciani, Cláudio José Caldas; Yagi, Osmar Kenji; Mucerino, Donato Roberto; Lopasso, Fábio Pinatel; Mester, Marcelo; Ribeiro-Júnior, Ulysses; Dias, André Roncon; Ramos, Marcus Fernando Kodama Pertille; Cecconello, Ivan; Zilberstein, Bruno

    2016-01-01

    Minimally invasive surgery widely used to treat benign disorders of the digestive system, has become the focus of intense study in recent years in the field of surgical oncology. Since then, the experience with this kind of approach has grown, aiming to provide the same oncological outcomes and survival to conventional surgery. Regarding gastric cancer, surgery is still considered the only curative treatment, considering the extent of resection and lymphadenectomy performed. Conventional surgery remains the main modality performed worldwide. Notwithstanding, the role of the minimally invasive access is yet to be clarified. To evaluate and summarize the current status of minimally invasive resection of gastric cancer. A literature review was performed using Medline/PubMed, Cochrane Library and SciELO with the following headings: gastric cancer, minimally invasive surgery, robotic gastrectomy, laparoscopic gastrectomy, stomach cancer. The language used for the research was English. 28 articles were considered, including randomized controlled trials, meta-analyzes, prospective and retrospective cohort studies. Minimally invasive gastrectomy may be considered as a technical option in the treatment of early gastric cancer. As for advanced cancer, recent studies have demonstrated the safety and feasibility of the laparoscopic approach. Robotic gastrectomy will probably improve outcomes obtained with laparoscopy. However, high cost is still a barrier to its use on a large scale. A cirurgia minimamente invasiva amplamente usada para tratar doenças benignas do aparelho digestivo, tornou-se o foco de intenso estudo nos últimos anos no campo da oncologia cirúrgica. Desde então, a experiência com este tipo de abordagem tem crescido, com o objetivo de fornecer os mesmos resultados oncológicos e sobrevivência à cirurgia convencional. Em relação ao câncer gástrico, o tratamento cirúrgico ainda é considerado o único tratamento curativo, considerando a extensão da

  20. Silver segregation in Ag/a-C nanocomposite coatings for potential application as antibacterial surfaces

    NASA Astrophysics Data System (ADS)

    Manninen, Noora Kristiina Alves de Sousa

    diferentes componentes mecanicos sujeitos a elevado desgaste tribologico. Neste sentido, a combinacao das propriedades intrinsecas destes materiais pode ser considerada uma abordagem promissora para o desenvolvimento de revestimentos multifuncionais, os quais podem ser aplicados em diferentes produtos, nomeadamente, dispositivos medicos. Na presente tese os revestimentos nanocompositos de Ag/a-C sao depositados por dois metodos distintos: (i) pulverizacao catodica em magnetrao e (ii) combinacao da pulverizacao catodica em magnetrao para deposicao da camada de a-C e condensacao em atmosfera inerte para a incorporacao simultanea de nanoparticulas de Ag na matrix de carbono. Os metodos acima mencionados sao comparados em relacao a uniformidade dos revestimentos depositados, permitindo efetuar a escolha do metodo de deposicao mais eficaz (pulverizacao catodica em magnetrao). Os revestimentos nanocompositos de Ag/a-C sao caraterizados relativamente a sua estrutura, estabilidade termodinamica em condicoes ambientais e propriedades funcionais (comportamento tribologico e atividade antibacteriana). O trabalho central da tese e focado na caraterizacao de revestimentos Ag/a-C contendo 20% at. de Ag, com diferentes espessuras e diferentes estruturas em multicamada. Os resultados sugerem que os revestimentos Ag/a-C sao instaveis mesmo em condicoes ambientais, sendo observado que a Ag e forma nanofibras entre as fronteiras das colunas, as quais recobrem a superficie do revestimento poucas semanas apos a producao. O processo de formacao de nanofibras e promovido pela humidade, sendo que, as particulas crescem atraves de um processo de coalescencia. As propriedades funcionais sugerem que os revestimentos Ag/a-C sao promissores do ponto de vista de actividade antibacteriana, a qual esta relacionada com a sua ionizacao. Os testes tribologicos revelam que em ambiente nao lubrificado a presenca da Ag promove a degradacao dos revestimentos a-C, contudo, em meios biologicos que simulam o liquido

  1. Urban versus rural lifestyle in adolescents: associations between environment, physical activity levels and sedentary behavior.

    PubMed

    Regis, Manuela Ferreira; Oliveira, Luciano Machado Ferreira Tenório de; Santos, Ana Raquel Mendes Dos; Leonidio, Ameliane da Conceição Reubens; Diniz, Paula Rejane Beserra; Freitas, Clara Maria Silvestre Monteiro de

    2016-01-01

    To analyze the levels of physical activity and sedentary behavior in adolescents living in urban and rural areas. An epidemiological, cross-section study with quantitative design, carried out at the regional level. The sample comprised 6,234 students aged 14 to 19 years, selected using random cluster sampling. The χ2 test and binary logistic regression were used in the analysis. A total of 74.5% of adolescents lived in urban areas. After adjustment, rural residents spent less time watching television (odds ratio - OR: 0.45; 95% confidence interval - 95%CI: 0.39-0.52), using a computer and/or playing video games (OR: 0.30; 95%CI: 0.22-0.42), or sitting down (OR: 0.66; 95%CI: 0.54-0.80); chose passive leisure less often (OR: 0.83; 95%IC: 0.72-0.95) and were less likely to be classified as insufficiently active (OR: 0.88; 95%IC: 0.78-0.99) when compared to urban residents, regardless of sex or age. The fact that adolescents living in rural areas who did not work were more likely to be classified as insufficiently active (OR: 2.59; 95%CI: 2.07-3.24) emphasized the significant role of occupation in physical activity levels in this group. Adolescents living in rural areas were less exposed to the sedentary behaviors, chose more active leisure, and had higher levels of physical activity. Place of residence and occupation may play a major role in youth lifestyle. Analisar os níveis de atividade física e o comportamento sedentário em adolescentes das áreas urbanas e rurais. Estudo epidemiológico, transversal, com abordagem quantitativa e abrangência estadual, cuja amostra foi constituída por 6.234 estudantes (14 a 19 anos), selecionados por meio de uma estratégia de amostragem aleatória de conglomerados. As análises foram realizadas por meio do teste χ2 e da regressão logística binária. Na amostra, 74,5% dos adolescentes eram residentes em área urbana. Após o ajuste, constatou-se que os adolescentes oriundos da área rural usavam menos televisão (odds

  2. Accuracy of probabilistic and deterministic record linkage: the case of tuberculosis.

    PubMed

    Oliveira, Gisele Pinto de; Bierrenbach, Ana Luiza de Souza; Camargo, Kenneth Rochel de; Coeli, Cláudia Medina; Pinheiro, Rejane Sobrino

    2016-08-22

    partir da combinação de fragmentos das variáveis-chave com ou sem modificações (Soundex ou substring). Cada regra era formada por três ou mais fragmentos. Para a abordagem probabilística, foi necessário estabelecer ponto de corte para o escore, acima do qual os links seriam classificados automaticamente como pertencentes ao mesmo indivíduo. O ponto de corte foi obtido por meio do relacionamento da base de dados Sistema de Informação de Agravos de Notificação - Tuberculose com ela mesma, posterior revisão manual e curvas ROC e precision-recall. Foram calculadas a sensibilidade e especificidade para análise de acurácia. A acurácia variou de 87,2% a 95,2% para sensibilidade e 99,8% a 99,9% para especificidade para as técnicas probabilística e determinística, respectivamente. A presença de valores faltantes para as variáveis-chave e o baixo percentual da medida de similaridade para o nome e data de nascimento foram os principais responsáveis pela não identificação dos registros do mesmo indivíduo pelas técnicas utilizadas. As duas técnicas apresentam alta concordância para a classificação como par. Apesar de a técnica determinística ter identificado mais registros duplicados que a probabilística, a segunda recuperou registros não identificados pela primeira. A necessidade e a experiência do usuário devem ser consideradas para a escolha da técnica a ser utilizada.

  3. Care management: agreement between nursing prescriptions and patients' care needs.

    PubMed

    Faeda, Marília Silveira; Perroca, Márcia Galan

    2016-08-08

    analyze agreement between nursing prescriptions recorded in medical files and patients' care needs; investigate the correlation between the nurses' professional background and agreement of prescriptions. descriptive study with quantitative and documentary approach conducted in the medical clinic, surgical, and specialized units of a university hospital in the interior of São Paulo, Brazil. The new validated version of a Patient Classification Instrument was used and 380 nursing prescriptions written at the times of hospital admission and discharge were assessed. 75% of the nursing prescriptions items were compatible with the patients' care needs. Only low correlation between nursing prescription agreement and professional background was found. the nursing prescriptions did not fully meet the care needs of patients. The care context and work process should be analyzed to enable more effective prescriptions, while strategies to assess the care needs of patients are recommended. analisar a concordância entre prescrições de enfermagem, registradas nos prontuários, e as necessidades de cuidados dos pacientes; investigar a correlação entre o perfil profissional dos enfermeiros e a concordância das prescrições. estudo descritivo com abordagem quantitativa e documental, realizado em unidades de clínica médica, cirúrgica e especializada de um hospital de ensino, no interior do Estado de São Paulo. Foi aplicada a nova versão validada do Instrumento de Classificação de Pacientes e, posteriormente, investigadas 380 prescrições de enfermagem no momento da admissão e alta hospitalar. foi identificado que 75% dos itens das prescrições de enfermagem estavam compatíveis com as necessidades cuidativas dos pacientes. Encontrou-se baixa correlação entre a concordância da prescrição de enfermagem e o perfil profissional. as prescrições de enfermagem não estão sendo realizadas, em sua totalidade, em consonância com as necessidades dos pacientes. Para

  4. Development and validation of the Hospitality Axiological Scale for Humanization of Nursing Care.

    PubMed

    Galán González-Serna, José María; Ferreras-Mencia, Soledad; Arribas-Marín, Juan Manuel

    2017-08-03

    to develop and validate a scale to evaluate nursing attitudes in relation to hospitality for the humanization of nursing care. Participants: the sample consisted of 499 nursing professionals and undergraduate students of the final two years of the Bachelor of Science in Nursing program. the instrument has been developed and validated to evaluate the ethical values related to hospitality using a methodological approach. Subsequently, a model was developed to measure the dimensions forming the construct hospitality. the Axiological Hospitality Scale showed a high internal consistency, with Cronbach's Alpha=0.901. The validation of the measuring instrument was performed using factorial, exploratory and confirmatory analysis techniques with high goodness of fit measures. the developed instrument showed an adequate validity and a high internal consistency. Based on the consistency of its psychometric properties, it is possible to affirm that the scale provides a reliable measurement of the hospitality. It was also possible to determine the dimensions or sources that embrace it: respect, responsibility, quality and transpersonal care. desenvolver e validar uma escala que permita avaliar a atitude dos enfermeiros em termos de hospitalidade, visando a humanização da enfermagem.Participantes: a amostra foi constituída por 499 profissionais e estudantes de enfermagem dos dois últimos anos do curso de graduação em Enfermagem. utilizando-seuma abordagem metodológica, foi desenvolvido e validado um instrumento para avaliar os valores éticos relacionados com a hospitalidade. Subsequentemente, foi formulado um modelo para mediras dimensões que constituem o construto hospitalidade. a Escala Axiológica de Hospitalidade mostrou uma consistência interna elevada, com Alfa de Cronbach=0,901. A validação do instrumento de medição foi realizada usando-se métodos de análise fatorial, exploratória e confirmatória, que apresentaram bons índices de qualidade de ajuste. o

  5. The impact of the use of different types of gloves and bare hands for preparation of clean surgical instruments.

    PubMed

    Bruna, Camila Quartim de Moraes; Souza, Rafael Queiroz de; Massaia, Irineu Francisco Silva; Cruz, Áurea Silveira; Graziano, Kazuko Uchikawa

    2016-10-10

    to determine if there are differences on the safety of the preparation of clean surgical instruments using different types of gloves and bare hands and evaluate the microbiological load of these preparations without gloves. laboratory procedure with a pragmatic approach, in which the samples were handled with different types of gloves and bare hands. In addition, cytotoxicity assays were carried out by means of the agar diffusion method. Further samples were subjected to microbiological analysis after being handled without gloves. none of the samples showed cytotoxic effect. All microbiological cultures showed growth of microorganisms, but no microorganism has been recovered after autoclaving. there were no differences in the cytotoxic responses regarding the use of different types of gloves and bare hands in the handling of clean surgical instruments, which could entail iatrogenic risk. It is noteworthy that the use of gloves involves increase in the costs of process and waste generation, and the potential allergenic risk to latex. determinar se existe diferenças na segurança do preparo de instrumentais cirúrgicos relacionada ao uso de distintos tipos de luvas e das mãos nuas no preparo, e avaliar a carga microbiológica destes preparados sem luvas. experimento laboratorial com abordagem pragmática, onde amostras foram manipuladas com diferentes tipos de luvas e com as mãos nuas, elaborado teste de citotoxicidade por meio da difusão em ágar. Outras Amostras sofreram análise microbiológica após serem manipuladas sem luvas. nenhuma das amostras apresentou efeito citotóxico. Todas as culturas microbiológicas apresentaram crescimento de microrganismos, embora nenhum microrganismo tenha sido recuperado após a autoclavação. não houve diferenças nas respostas citotóxicas relacionadas ao uso de diferentes tipos de luvas e das mãos nuas na manipulação do instrumental cirúrgico limpo que sinalizasse risco de iatrogenia. Ressalta-se que o uso de luvas

  6. Inclusion of Astronomy Themes in an Inovative Approach of Informal Physics Teaching for High School Students. (Spanish Title: Inclusión de Temas Astronómicos en Uma Abordaje Innovadora de la Enseñanza Informal de Física Para Estudiantes de Secumdaria.) Inclusão de Temas Astronômicos Numa Abordagem Inovadora do Ensino Informal de Física Para Estudantes do Ensino Médio

    NASA Astrophysics Data System (ADS)

    Tiara Mota, Aline; de Morais Bonomini, Iracema Ariel; Meloni Martins Rosado, Ricardo

    2009-12-01

    The current work reports on an experience on Astronomy education at the Federal University of Itajubá through an extra-curricular course offered for High School students. This initiative was motivated by the low attention paid to the Astronomy subjects at this stage of the Brazilian Formal Education, in spite that the National Curricular Parameters (PCN and PCN+, in Brazil) point out the importance of their inclusion Este artículo relata una experiencia en la enseñanza de la astronomía efectuada en la Universidad Federal de Itajubá en la forma de un curso de extensión orientado para los estudiantes del colegio secundario. Esta iniciativa surgió de constatar la poca atención dada a la Astronomía en esta etapa de la Educación formal brasileña, a pesar que los Parámetros Curriculares Nacionales (PCN y PCN+, en Brasil) destacan la importancia de su inclusión. Este artigo relata uma experiência em ensino de Astronomia realizada na Universidade Federal de Itajubá na forma de um curso de extensão voltado para alunos do Ensino Médio. Esta iniciativa surgiu da pouca atenção que se dá à Astronomia nesta etapa da Educação embora os Parâmetros Curriculares Nacionais (PCN e PCN+) apontem a importância de sua inclusão.

  7. EFFECTIVE INDICATORS FOR SCIENCE INTERNATIONALIZATION.

    PubMed

    Cunha-Melo, José Renan da

    2015-01-01

    ções, explorando o potencial para cooperação internacional interdisciplinar de cada laboratório, departamento, universidade ou instituto. Procura de indicadores que possam avaliar o grau de internacionalização das universidades e institutos de pesquisa em vários níveis interconectados: organizacional, regional, setorial e global e para definição de políticas nas áreas de ciência, tecnologia inovação e educação superior. A pesquisa científica ainda é realizada individualmente, mas está atualmente muito mais intimamente integrada a outros processos sociais. O cientista não é mais um estranho que tem permissão para entregar-se ao seu passatempo de fazer aquilo que bem entende. Internacionalização da pesquisa e da educação médica, embora esteja entre os tópicos de maior reconhecimento como sendo necessidade do mundo globalizado, é atividade difícil de ser avaliada. Os governantes parecem ter entendido que as sociedades do conhecimento, induzindo a política econômica baseada no conhecimento pode resultar em progresso econômico e social das nações. Esse fato tem motivado de forma crescente o incentivo às ações que visam a abordagem de problemas globais (e.g. saúde, mudanças climáticas) pelo financiamento da pesquisa que gera conhecimento novo. É consenso que a internacionalização da ciência é desejável e necessária para o desenvolvimento sustentável das nações. Entretanto ela não pode ser feita somente incentivando e fomentando a ida de estudantes e pesquisadores para o exterior. É preciso, em adição, oferecer condições a professores pesquisadores e estudantes estrangeiros para que possam atuar em colaboração com os brasileiros e elevar o país aos padrões científicos internacionais.

  8. Different Cultures in Astronomy Education and Their Meanings in the Classroom. (Spanish Title: Las Diferentes Culturas en la Educación en Astronomía y Sus Significados EN EL Aula. ) As Diferentes Culturas na Educação em Astronomia E Seus Significados em Sala de Aula

    NASA Astrophysics Data System (ADS)

    Pereira de Barros, Vicente; Bovolenta Ovigli, Daniel Fernando

    2014-12-01

    el trabajo con Astronomía(s) en la clase. Se observó que los participantes todavía no habían presentado estos temas en sus clases y tampoco habían participado en cursos de formación que abordaran estos temas. O presente trabalho apresenta uma reflexão acerca da utilização da História da Ciência no currículo da educação formal, por meio da discussão relativa ao emprego de elementos culturais de grupos étnicos em ações voltadas à educação em Astronomia. O trabalho foi desenvolvido no âmbito de um curso de extensão e a análise aqui empreendida refere-se a um encontro que abordou sequências didáticas relativas àquele tema, com fundamento na lei 11.645/2008 e a obrigatoriedade de abordagem da temática "História e Cultura Afro-Brasileira e Indígena" no currículo oficial. A ação de extensão ocorreu junto a professores que ensinam Ciências da Natureza, no interior do estado de São Paulo, discutindo-se temas relativos ao uso de História da Ciência e o relacionamento com cosmogonias oriundas dos povos Iorubá e Tupi, evidenciando como podem enriquecer o trabalho com a(s) Astronomia(s) em sala de aula. Observou-se que os participantes ainda não haviam apresentado estes temas em suas aulas e, igualmente, não participaram de cursos de formação que contemplassem a referida temática.

  9. Phenotypes of asthma in low-income children and adolescents: cluster analysis.

    PubMed

    Cabral, Anna Lucia Barros; Sousa, Andrey Wirgues; Mendes, Felipe Augusto Rodrigues; Carvalho, Celso Ricardo Fernandes de

    2017-01-01

    objetivo foi determinar como crianças e adolescentes asmáticas de baixa renda no Brasil são distribuídos através de uma análise de clusters. Foram incluídos 306 crianças e adolescentes (6-18 anos de idade) com diagnóstico clínico de asma e sob tratamento médico por pelo menos um ano de acompanhamento. No momento da inclusão, todos os pacientes estavam clinicamente estáveis. Vinte variáveis comumente determinadas na prática clínica e consideradas importantes na definição dos fenótipos de asma foram selecionadas para a análise de clusters. As variáveis com alta multicolinearidade foram excluídas. Uma análise de clusters foi realizada utilizando-se um teste aglomerativo em duas etapas e log-likelihood distance measure. Três clusters foram definidos para nossa população. O cluster 1 (n = 94) incluiu indivíduos com função pulmonar normal, inflamação eosinofílica leve, poucas exacerbações, início mais tardio da asma e atopia leve. O cluster 2 (n = 87) incluiu pacientes com função pulmonar normal, número moderado de exacerbações, início precoce da asma, inflamação eosinofílica mais grave e atopia moderada. O cluster 3 (n = 108) incluiu pacientes com função pulmonar ruim, exacerbações frequentes, inflamação eosinofílica e atopia graves. A asma foi caracterizada por presença de atopia, número de exacerbações e função pulmonar em crianças e adolescentes de baixa renda no Brasil. As muitas semelhanças entre esta e outras análises de clusters de fenótipos indicam que essa abordagem apresenta boa generalização.

  10. Culture-bound syndromes in migratory contexts: the case of Bolivian immigrants.

    PubMed

    Roldán-Chicano, María Teresa; Fernández-Rufete, José; Hueso-Montoro, César; García-López, María Del Mar; Rodríguez-Tello, Javier; Flores-Bienert, María Dolores

    2017-07-10

    to describe the culture-bound syndromes maintained by Bolivian immigrants in the new migratory context and analyze the care processes of these health problems. qualitative research with an ethnographic methodological approach. Sample: 27 Bolivian immigrants. In-depth interviews and participatory observation were the strategies used for data collection. Data were classified and categorized into logical schemes manually and using the ATLAS-ti program v.5. susto, "wayras", amartelo, pasmo de sol, pasmo de luna and pasmo de sereno are some of the folk illnesses that affect the Bolivian immigrants and that they have to treat in the new migratory context. in the new environment, the group under study preserves culture-bound syndromes that are common in their country of origin. The care strategies used for these health problems are adapted to the resources of the new context and based on interactions with the domestic environment, biomedicine and traditional medicine. It was observed the need for the health professionals to realize that the efficacy of certain therapies occurs within the scope of cultural beliefs and not in that of the scientific evidence. descrever as síndromes vinculadas à cultura mantidas pelos imigrantes bolivianos no novo contexto migratório e analisar os processos de cuidado para esses problemas de saúde. projeto de pesquisa de natureza qualitativa e com abordagem metodológica etnográfica. Amostra: 27 imigrantes bolivianos. As estratégias para a coleta de dados foram as entrevistas em profundidade e a observação participativa. Os dados foram classificados e categorizados em esquemas lógicos manualmente e por meio do programa ATLAS-ti v.5. o susto, os "wayras", o amartelo (tristeza), o pasmo de sol, o pasmo de lua e o pasmo de sereno são algumas das síndromes de caráter popular que acometem os imigrantes bolivianos, e que eles tratam no novo contexto migratório. no novo ambiente, as síndromes vinculadas à cultura, comuns em seu pa

  11. Prevalence and factors associated with human brucellosis in livestock professionals.

    PubMed

    Mufinda, Franco Cazembe; Boinas, Fernando; Nunes, Carla

    2017-06-22

    áveis sociodemográficas, de conhecimento e práticas relativas às características das actividades desenvolvidas na pecuária. Estudo transversal seroepidemiológico em população de 131 trabalhadores de talhos, salas de abate e matadouro e 192 criadores amostrados aleatoriamente na província do Namibe, Angola. Os dados foram obtidos por meio de colheita de sangue e aplicação de questionário. Os testes laboratoriais utilizados foram o Rosa de Bengala e a aglutinação lenta em tubos. O questionário permitiu recolher informação sociodemográfica e, especificamente sobre a brucelose, incorporou questões sobre conhecimento, atitudes e comportamentos dos profissionais da pecuária. Além da abordagem estatística descritiva, foram utilizados os testes de Independência do Qui-quadrado, Fisher e modelos de regressão logística, utilizando um nível de significância de 10%. A prevalência geral ponderada da brucelose foi de 15.6% (IC95% 13.61-17.50), sendo 5.3% em trabalhadores e 16.7% (IC95% 11.39-21.93) em criadores. A significância estatística foi observada entre a seroprevalência humana e a categoria (trabalhador e criador) (p < 0.001) e o nível de instrução (p = 0.032), início de actividade (p = 0.079) e local de serviço (p = 0.055). Em um contexto multivariado, o factor positivamente associado à brucelose em profissionais foi a categoria profissional (OR = 3.54; IC95% 1.57-8.30, relativo aos criadores em relação a trabalhadores). A brucelose humana em profissionais da pecuária é prevalente na província do Namibe (15.6%), onde a categoria profissional foi o factor mais relevante. Os níveis de seroprevalência detectados são elevados se comparados com outros encontrados em estudos semelhantes.

  12. Life-cycle optimization model for distributed generation in buildings

    NASA Astrophysics Data System (ADS)

    Safaei, Amir

    O setor da construcao e responsavel por uma grande parte do consumo de energia e emissoes na Uniao Europeia. A Geracao Distribuida (GD) de energia, nomeadamente atraves de sistemas de cogeracao e tecnologias solares, representa um papel importante no futuro energetico deste setor. A otimizacao do funcionamento dos sistemas de cogeracao e uma tarefa complexa, devido as diversas variaveis em jogo, designadamente: os diferentes tipos de necessidades energeticas (eletricidade, aquecimento e arrefecimento), os precos dinamicos dos combustiveis (gas natural) e da eletricidade, e os custos fixos e variaveis dos diferentes sistemas de GD. Tal torna-se mais complexo considerando a natureza flutuante das tecnologias solares termicas e fotovoltaicas. Ao mesmo tempo, a liberalizacao do mercado da eletricidade permite exportar para a rede, a electricidade gerada localmente. Adicionalmente, a operacao estrategica de um sistema de GD deve atender aos quadros politicos nacionais, se tiver como objetivo beneficiar de tais regimes. Alem disso, considerando os elevados impactes ambientais do setor da construcao, qualquer avaliacao energetica de edificios rigorosa deve tambem integrar aspetos ambientais, utilizando uma abordagem de Ciclo de Vida (CV). Uma avaliacao de Ciclo de Vida (ACV) completa de um sistema de GD deve incluir as fases relativas a operacao e construcao do sistema, bem como os impactes associados a producao dos combustiveis. Foram analisadas as emissoes da producao de GN, as quais variam de acordo com a origem, tipo (convencional ou nao-convencional), e estado (na forma de GN Liquefeito (GNL) ou gas). Do mesmo modo, o impacte dos sistemas solares e afetado pela meteorologia e radiacao solar, de acordo com a sua localizacao geografica. Sendo assim, uma avaliacao adequada dos sistemas de GD exige um modelo de ACV adequado a localizacao geografica (Portugal), integrando tambem a producao de combustivel (GN), tendo em conta as suas diferentes fontes de abastecimento. O

  13. Astrophysics in Schools: Playing with Observational Data. (Spanish Title: Astrofísica Escolar: Jugando con Datos Observacionales.) Astrofísica Escolar: Brincando com Dados Observacionais

    NASA Astrophysics Data System (ADS)

    Navone, Hugo D.; Scancich, Miriam; Vázquez, Rubén A.

    2011-07-01

    principales dimensiones educativas que emergen del mismo. La propuesta está destinada a alumnos del último año de nivel medio y primeros años de la universidad, y a estudiantes y profesores de Institutos de Formación Docente. Las puestas en práctica realizadas muestran que la propuesta es viable, que moviliza inquietudes en torno a temáticas de Astrofísica y que se fortalece al adquirir un carácter lúdico y cooperativo. A utilização de registros observacionais na construção de seqüências didáticas em Astrofísica Escolar não é algo usual no ensino médio. Tampouco o é uma abordagem de temáticas dentro do contexto da Natureza da Ciência. Agrega-se a estas carências a falta de propostas que estimulem a utilização do computador como um laboratório para estudar a natureza. Os aspectos mencionados expõem a existência de um desajuste entre ciência escolar e ciência avançada, estabelecendo a necessidade de elaborar projetos educativos simples que promovam o diálogo interdisciplinar entre ambos campos do conhecimento. Partindo destes pressupostos, este trabalho apresenta a reformulação escolar do problema abordado por Hubble -a relação entre redshift e distância das galáxias- e se exploram as principais dimensões educativas que emergem do mesmo. A proposta está destinada a alunos do último ano do nível médio, primeiros anos do curso superior e a estudantes e professores de Institutos de Formação Docente. As atividades práticas realizadas mostram que a proposta é viável, que mobiliza inquietudes em torno da temática e da Astrofísica e que se fortalece ao adquirir um caráter lúdico e cooperativo.

  14. Evaluation of thermochemical biomass conversion in fluidized bed =

    NASA Astrophysics Data System (ADS)

    Neves, Daniel dos Santos Felix das

    elementares e poderes calorificos. O resultado traduziu-se num conjunto de parâmetros empiricos de interesse pratico que permitiram elucidar o comportamento geral da pirolise de biomassa numa gama ampla de condicoes operatorias. Para alem disso, propos-se um modelo empirico para a composicao dos volateis que pode ser integrado em modelos compreensivos de reatores desde que os parâmetros usados sejam adequados ao combustivel ensaiado. Esta abordagem despoletou um conjunto de ensaios de pirolise com varias biomassas, lenhina e celulose, e temperaturas entre os 600 e 975ºC. Elevadas taxas de aquecimento do combustivel foram alcancadas em reatores laboratoriais de leito fluidizado borbulhante e leito fixo, ao passo que um sistema termo-gravimetrico permitiu estudar o efeito de taxas de aquecimento mais baixas. Os resultados mostram que, em condicoes tipicas de processos de combustao e gasificacao, a quantidade de volateis libertada da biomassa e pouco influenciada pela temperatura do reator mas varia bastante entre combustiveis. Uma analise mais aprofundada deste assunto permitiu mostrar que o rendimento de carbonizado esta intimamente relacionado com o racio O/C do combustivel original, sendo proposto um modelo simples para descrever esta relacao. Embora a quantidade total de volateis libertada seja estabelecida pela composicao da biomassa, a respetiva composicao quimica depende bastante da temperatura do reator. Rendimentos de especies condensaveis (agua e especies orgânicas), CO2 e hidrocarbonetos leves descrevem um maximo relativamente a temperatura para dar lugar a CO e H2 as temperaturas mais altas. Nao obstante, em certas gamas de temperatura, os rendimentos de algumas das principais especies gasosas (e.g. CO, H2, CH4) estao bem correlacionados entre si, o que permitiu desenvolver modelos empiricos que minimizam o efeito das condicoes operatorias e, ao mesmo tempo, realcam o efeito do combustivel na composicao do gas. Em suma, os ensaios de pirolise realizados neste

  15. Management changes resulting from hospital accreditation.

    PubMed

    Oliveira, João Lucas Campos de; Gabriel, Carmen Silvia; Fertonani, Hosanna Pattrig; Matsuda, Laura Misue

    2017-03-02

    contenido, modalidad temática, a la luz del referencial de la Evaluación en Salud de Avedis Donabedian. fue aprendida una gran categoría temática (family), llamada "Cambios Gerenciales Resultantes de la Acreditación: perspectivas de gestores y trabajadores" y cinco subcategorías (codes), relacionadas a los cambios gerenciales en las esferas operacional; estructural; financiera y de costo; en la alta gestión hospitalaria; y en la gestión de calidad. los cambios gerenciales en las organizaciones hospitalarias, resultantes de la Acreditación, fueron amplias, polifacéticas y coherentes con las mejoras en la calidad de los servicios. analisar as percepções de gestores e trabalhadores sobre as mudanças no gerenciamento hospitalar advindas da Acreditação. estudo descritivo com abordagem qualitativa. Participaram cinco gestores da qualidade hospitalar e outros 91 trabalhadores das mais diversas categorias profissionais, níveis hierárquicos e áreas de atuação de quatro hospitais do sul do Brasil certificados pela Acreditação nacional de diferentes níveis, que responderam à questão "Fale-me sobre o gerenciamento deste hospital, antes e depois da Acreditação". Os dados foram gravados, transcritos na íntegra e transportados para acesso e manejo no software ATLAS.ti, versão 7.1. Após isso, procedeu-se a análise de conteúdo, modalidade temática, sustentada à luz do referencial da Avaliação em Saúde de Avedis Donabedian. apreendeu-se uma grande categoria temática (family), denominada "Mudanças Gerenciais Advindas da Acreditação: perspectivas de gestores e trabalhadores" e cinco subcategorias (codes), relacionadas às mudanças gerenciais no âmbito operacional; estrutural; financeiro e de custo; na alta gestão hospitalar; e na gestão da qualidade. as mudanças gerenciais nas organizações hospitalares, advindas da Acreditação, se mostraram amplas, multifacetadas e coadunam às melhorais da qualidade nos serviços.

  16. Impact of dental orientation given to mothers during pregnancy on oral health of their children.

    PubMed

    Rigo, Lilian; Dalazen, Jaqueline; Garbin, Raíssa Rigo

    2016-01-01

    To analyze the perception of mothers about oral health of their children, as well as to check the influence of demographic variables, perception and preventive practice in oral health of mothers regarding guidance received during pregnancy. Quantitative and cross-sectional field study, with a non-probability sample formed by all mothers who attended the primary healthcare unit of Ijuí (RS), Brazil, from January to July 2014, comprising a sample of 79 women. Self-applied questionnaires were given to these mothers. Data analysis was carried out using descriptive and inferential statistics, the χ2 test at a significance level of 5%. The mothers who received dental orientation during pregnancy had greater perception of oral health of their children. The mean age of mothers was 26 years, most of them attended high school education (32.9%) and worked outside the home (60.8%). There was a statistically significant relation between the outcome variable, dental orientation during pregnancy, and the independent variables: schooling level of mothers, occupation, baby's first visit to the dentist, duration of breastfeeding, beginning of baby's tooth brushing and knowledge about dental decay (p<0.005). Mothers with higher schooling levels and who worked outside the home had more knowledge about oral care, because they received dental orientation during pregnancy. The dental guidance during pregnancy influences the mother in the procedures adopted with their children, as to early oral hygiene, first dentist appointment, duration of breastfeeding, knowledge about the factors that lead to dental decay. Analisar a percepção das mães em relação à saúde bucal de seus filhos, bem como verificar a influência das variáveis demográficas, de percepção e prática preventiva em saúde bucal das mães, na orientação odontológica recebida durante a gestação. Pesquisa de campo com abordagem quantitativa e delineamento transversal. A amostragem foi não probabilística com

  17. Solar Physics Topics in High School: Analysis of a Course with Practical Activities at Dietrich Schiel Observatory. (Spanish Title: Temas de Física Solar Para Estudiantes de Escuelas Secundarias: un Análisis de un Curso con Enfoque Práctico en el Observatorio Dietrich Schiel.) Tópicos de Física Solar no Ensino Médio: Análise de um Curso com Atividades Práticas no Observatório Dietrich Schiel

    NASA Astrophysics Data System (ADS)

    Calbo Aroca, Silvia; Donizete Colombo, Pedro, Jr.; Celestino Silva, Cibelle

    2012-12-01

    algunos estudiantes sabían que un espectro puede estar formado por un prisma o red de difracción, la mayor parte de ellos desconocía la naturaleza de las líneas espectrales. A lo largo del curso, esta cuestión fue trabajada con un enfoque práctico mediante la observación del espectro solar y de las lámparas durante clases expositivas/dialogadas. Los resultados obtenidos en el curso mustran la importancia de los centros de ciencia como un apoyo en la educación formal. En este caso en particular, la Sala Solar del Observatorio Dietrich Schiel se destaca como un entorno favorable para la enseñanza de la física moderna en la escuela secundaria. Este trabalho analisa resultados obtidos em um curso sobre física solar para alunos do ensino médio promovido pelo Observatório Dietrich Schiel da USP. O curso foi elaborado pelos autores com a intenção de investigar concepções sobre o Sol, ensinar tópicos de física moderna relacionados ao Sol e conhecimentos gerais sobre o astro rei. A metodologia de coleta de dados consistiu em gravação em áudio e vídeo das aulas e das entrevistas semi-estruturadas, e respostas a questionários escritos. Os resultados mostraram que a maioria dos participantes concebeu o Sol como constituído por fogo e as manchas solares como buracos na superfície solar. Embora alguns alunos soubessem que um espectro pode ser formado por um prisma ou rede de difração, a maior parte deles desconhecia a natureza das linhas espectrais. Ao longo do curso, este tema foi trabalhado com uma abordagem prática com observação do espectro solar e de lâmpadas e em aulas expositivo-dialogadas. Os resultados obtidos no curso apontam para a importância dos centros de ciências como parceiros da educação formal. Neste caso específico, a Sala Solar do Observatório Dietrich Schiel é um ambiente propício para o ensino de física moderna no ensino médio.

  18. Contribution of Oswaldo Paulo Forattini to public health: analysis of scientific production.

    PubMed

    Reis, Juliana Gonçalves; Kobayashi, Keilla Miki; Ueno, Helene Mariko; Ribeiro, Cristiane Martins; Cardoso, Telma Abdalla de Oliveira

    2016-12-22

    ção científica de Oswaldo Paulo Forattini, pesquisador e, por 40 anos, editor da Revista de Saúde Pública. Estudo descritivo com abordagem bibliométrica realizado em três etapas. (1) Identificação dos registros bibliográficos, utilizando a seguinte estratégia de busca: "Oswaldo Paulo Forattini" OR "Forattini OP" OR "Forattini O" nas fontes de informação Google Scholar, Web of Science e PubMed, em julho de 2016, o que recuperou 867 registros. (2) Composição do corpus da pesquisa, na qual foram incluídos 351 registros bibliográficos de artigos, livros, capítulos de livros, editoriais, resenhas de livros, notas informativas e relatórios anuais da RSP e excluídos 516 duplicatas e notas de agradecimento, notas de obituários e citações não recuperáveis. (3) Organização e análise dos dados, na qual foram construídos bancos de dados para análise descritiva e elaboração das redes de coautores e de termos do MeSH no software VOSviewer. Para análise dos editoriais, três revisores leram o texto completo de cada editorial e os categorizaram segundo assunto, contexto histórico e perspectivas, relacionando-o com marcos históricos. A produção científica de Forattini ocorreu de 1946 a 2009, a maioria composta por artigos (n = 218; 62,1%), editoriais (n = 43; 12,3%) e livros (n = 13; 3,7%). Os principais assuntos foram Culicidae (36,8%), Triatominae (12,5%) e Epidemiologia (10,0%). Os coautores dos artigos foram seus mestres, colegas de sua geração e alunos de pós-graduação. Seus editoriais abordaram reflexões críticas sobre a produção de conhecimento, prioridades em pesquisa e fatores que contribuíam ou desfavoreciam o progresso. O escopo dos assuntos é amplo, remetendo ao desenvolvimento científico e socioeconômico, questões de saúde pública em países desenvolvidos ou saúde global. A análise mostra o comprometimento de Forattini com a saúde pública, na pesquisa com vetores, na formação de pesquisadores e na comunicação científica.

  19. FROM COMPLEX EVOLVING TO SIMPLE: CURRENT REVISIONAL AND ENDOSCOPIC PROCEDURES FOLLOWING BARIATRIC SURGERY.

    PubMed

    Zorron, Ricardo; Galvão-Neto, Manoel Passos; Campos, Josemberg; Branco, Alcides José; Sampaio, José; Junghans, Tido; Bothe, Claudia; Benzing, Christian; Krenzien, Felix

    complicated endoscopic solutions. Bypass gástrico em Y-de-Roux (BGYR) é procedimento padrão em cirurgia bariátrica. Gastrectomia vertical e banda gástrica, embora com bons resultados na literatura, estão mostrando taxas mais elevadas de insucesso no tratamento para reduzir a morbidade associada à obesidade e peso corporal. Outros problemas pós-operatórios podem ocorrer, como a erosão da banda, e doença do refluxo gastroesofágico refratária à medicação. Portanto, conversão laparoscópica para BGYR pode ser alternativa eficaz, desde que indicações específicas para a revisão sejam cumpridas. Analisar os nossos dados e os da literatura sobre procedimentos bariátricos revisionais para avaliar melhores alternativas para a prática atual. Foram efetuados experiência institucional e revisão sistemática da literatura sobre cirurgia bariátrica revisional. Procedimentos endoscópicos estão sendo aplicados recentemente para melhorar a falha e complicações de procedimentos bariátricos. Falha terapêutica após BGYR ocorre em até 20%. A redução transoral é atualmente um método alternativo para reduzir a anastomose gastrojejunal. A gastrectomia vertical pode apresentar aumento de volume e do diâmetro do pouch , o qual podem ser reduzidos por meio de sutura total endoscópica longitudinal. Síndrome de dumping e episódios de hipoglicemia grave (neuroglicopenia) podem estar presentes nos pacientes com BGYR. Os episódios hipoglicêmicos devem ser avaliados e geralmente podem ser tratados convencionalmente. Para evitar pancreatectomia parcial ou conversão à anatomia normal, uma nova abordagem laparoscópica com ressecção do remanescente gástrico e interposição de jejuno, pode ser aplicada como alternativa em não-respondedores. Episódios de hipoglicemia melhoram, enquanto a perda de peso é mantida. Procedimentos revisionais endoscópicos podem ser aplicados após cirurgia bariátrica em pacientes com sintomas colaterais ou na falha do tratamento

  20. Teaching of Astronomy: Scenarios of Teaching Practice in Elementary Schools. (Spanish Title: Enseñanza de la Astronomía: Semblanzas de la Práctica Docente en Educación Primaria.) Ensino de Astronomia: Cenários da Prática Docente no Ensino Fundamental

    NASA Astrophysics Data System (ADS)

    Marchi Gonzatti, Sônia Elisa; Spessatto De Maman, Andréia; Fernandes Borragini, Eliana; Kerber, Júlia Cristina; Haetinger, Werner

    2013-12-01

    investigam a prática docente em Astronomia, em que as deficiências da formação inicial dos professores, ou mesmo a falta dela, dificulta a adequada abordagem da Astronomia em sala de aula.

  1. Evaluation in health: participatory methodology and involvement of municipal managers.

    PubMed

    Almeida, Cristiane Andrea Locatelli de; Tanaka, Oswaldo Yoshimi

    2016-08-04

    , its involvement with the evaluations at the federal level can also be stimulated. Analisar alcances e limites do uso de metodologia participativa de avaliação junto a gestores e gerentes municipais de saúde. Pesquisa qualitativa com gestores e gerentes de saúde da Comissão Intergestores Regional de uma região de saúde do estado de São Paulo. Representantes de sete municípios membros participaram de sete oficinas facilitadas pelos pesquisadores, com o objetivo de avaliar um problema específico da linha de cuidados sob a perspectiva da integralidade. A análise do material empírico coletado baseou-se na metodologia hermenêutica-dialética e visou a avaliação da metodologia participativa aplicada, segundo sua capacidade de promover um processo de avaliação passível de ser utilizado como suporte à gestão municipal. Com a abordagem participativa de avaliação, foi possível promover debates em profundidade com o grupo, principalmente relacionados à construção da integralidade da atenção e à inclusão da perspectiva do usuário na tomada de decisão, de forma vinculada à busca de solução para problemas concretos dos gestores. Mediante a exploração conjunta, foi aberta a possibilidade de utilização de dados advindos dos sistemas eletrônicos de informação, bem como de informações advindas diretamente dos usuários dos serviços, para enriquecer debates e negociações entre parceiros. Os participantes se mostraram descrentes do potencial de replicação deste tipo de avaliação sem o acompanhamento direto da academia, dada a dificuldade de organização do processo no cotidiano, já tomado por questões emergenciais e políticas. Avaliações de programas e serviços realizadas no âmbito da Comissão Intergestores Regional, partindo do interesse local e facilitando o envolvimento de seus membros pelo uso de metodologias participativas, podem contribuir para a construção da integralidade do cuidado. Na medida em que o ato de avaliar

  2. Good practices in collecting umbilical cord and placental blood.

    PubMed

    Lopes, Lauren Auer; Bernardino, Elizabeth; Crozeta, Karla; Guimarães, Paulo Ricardo Bittencourt

    2016-08-18

    to identify the factors related to the quality of umbilical cord and placental blood specimens, and define best practices for their collection in a government bank of umbilical cord and placental blood. this was a descriptive study, quantitative approach, performed at a government umbilical cord and placental blood bank, in two steps: 1) verification of the obstetric, neonatal and operational factors, using a specific tool for gathering data as non-participant observers; 2) definition of best practices by grouping non-conformities observed before, during and after blood collection. The data was analyzed using descriptive statistics and the following statistical software: Statistica(r) and R(r). while there was a correlation with obstetrical and neonatal factors, there was a larger correlation with operational factors, resulting in the need to adjust the professional practices of the nursing staff and obstetrical team involved in collecting this type of blood. Based on these non-conformities we defined best practices for nurses before, during and after blood collection. the best practices defined in this study are an important management tool for the work of nurses in obtaining blood specimens of high cell quality. identificar fatores relacionados à qualidade das amostras do sangue de cordão umbilical e placentário e definir boas práticas para sua coleta em um banco público de sangue de cordão umbilical e placentário. pesquisa descritiva, abordagem quantitativa, realizada em um banco público de sangue de cordão umbilical e placentário, desenvolvida em duas etapas: 1) verificação dos fatores obstétricos, neonatais e operacionais, obtidos por coleta em instrumento próprio e observação não participante; 2) definição das boas práticas, por meio do agrupamento de não-conformidades observadas antes, durante e após a coleta do sangue. Os dados foram analisados por meio da estatística descritiva, utilizando-se dos softwares Statistica(r) e R(r). houve

  3. MANAGEMENT OF ACUTE SEVERE ULCERATIVE COLITIS: A CLINICAL UPDATE.

    PubMed

    Sobrado, Carlos Walter; Sobrado, Lucas Faraco

    2016-01-01

    azathioprine. A surgical procedure is indicated for selected cases. A colite aguda grave é emergência médica, potencialmente letal e o seu tratamento permanece ainda nos dias de hoje um desafio para o clínico e cirurgião. A corticoterapia intravenosa introduzida no arsenal terapêutico na década de 50 permanece como primeira linha de tratamento, e nos pacientes refratários a tal medida, a terapia de resgate pode ser com medidas clínicas ou colectomia de urgência. Avaliar os resultados da terapia de resgate medicamentosa (ciclosporina, infliximabe e tracolimus), suas indicações e resultados, e sugerir um guia prático para abordagem clínica. Foi realizada revisão na literatura utilizando as bases Medline/Pubmed, Cochrane Library, Scielo, e informações adicionais em sites institucionais de interesse cruzando os descritores: colite aguda grave, colite fulminante e tratamento. O tratamento da colite aguda grave tem evitado a colectomia em 60- 70% dos casos, desde que iniciado precocemente e com acompanhamento multidisciplinar. A ciclosporina intravenosa apesar de seus efeitos adversos, tem sido indicada naqueles casos mais graves com risco iminente de colectomia, pela sua rapidez de ação, meia-vida curta, e não aumentar os riscos de complicações cirúrgicas. A terapia com infliximabe tem sido reservada para os casos menos graves e naqueles em uso ou já expostos a imunossupressores (AZA/6-MP). A facilidade terapêutica, seus bons resultados a curto e médio prazo, a possibilidade de terapia de manutenção e também por agir como "ponte" para ação de imunossupressores (AZA/6-MP) tem recentemente favorecido a indicação de biológicos. A colectomia fica reservada para casos que não apresentaram resposta a terapia de resgate após cinco a sete dias de tratamento e nas complicações (megacólon tóxico, hemorragia profusa e perfuração). s: Os pacientes com boa resposta à terapia de resgate e não submetidos à operações de urgência, deverão ser

  4. Novel materials based on chitosan, its derivatives and cellulose fibres

    NASA Astrophysics Data System (ADS)

    Fernandes, Susana Cristina de Matos

    estabilidade termica do que os correspondentes filmes sem reforco. Outra abordagem deste trabalho envolveu o revestimento de folhas de papel de E. globulus com quitosano e dois derivados, um derivado fluorescente e um derivado soluvel em agua, numa maquina de revestimentos ('maquina de colagem') a escala piloto. Este estudo envolveu inicialmente a deposicao de 1 a 5 camadas do derivado de quitosano fluorescente sobre as folhas de papel de forma a estudar a sua distribuicao nas folhas em termos de espalhamento e penetracao, atraves de medicoes de reflectância e luminescencia. Os resultados mostraram que, por um lado, a distribuicao do quitosano na superficie era homogenea e que, por outro lado, a sua penetracao atraves dos poros do papel cessou apos tres deposicoes. Depois da terceira camada verificou-se a formacao de um filme continuo de quitosano sobre a superficie do papel. Estes resultados mostram que este derivado de quitosano fluorescente pode ser utilizado como marcador na optimizacao e compreensao de mecanismos de deposicao de quitosano em papel e outros substratos. Depois de conhecida a distribuicao do quitosano nas folhas de papel, estudou-se o efeito do revestimento de quitosano e do seu derivado soluvel em agua nas propriedades finais do papel. As propriedades morfologicas, mecânicas, superficiais, opticas, assim como a permeabilidade ao ar e ao vapor de agua, a aptidao a impressao e o envelhecimento do papel, foram exaustivamente avaliadas. De uma forma geral, os revestimentos com quitosano e com o seu derivado soluvel em agua tiveram um impacto positivo nas propriedades finais do papel, que se mostrou ser dependente do numero de camadas depositadas. Os resultados tambem mostraram que os papeis revestidos com o derivado soluvel em agua apresentaram melhores propriedades opticas, aptidao a impressao e melhores resultados em relacao ao envelhecimento do que os papeis revestidos com quitosano. Assim, o uso de derivados de quitosano soluveis em agua em processos de

  5. Cultural adaptation and validation of an instrument on barriers for the use of research results.

    PubMed

    Ferreira, Maria Beatriz Guimarães; Haas, Vanderlei José; Dantas, Rosana Aparecida Spadoti; Felix, Márcia Marques Dos Santos; Galvão, Cristina Maria

    2017-03-02

    ências, e atuantes em instituição com cultura organizacional direcionada para tal abordagem. A confiabilidade apresentou correlação forte (r variando entre 0,77e 0,84, p<0,001) e a consistência interna foi adequada (alfa de Cronbach variando entre 0,77 e 0,82) . a versão para o português brasileiro do instrumento The Barriers Scale demonstrou-se válida e confiável no grupo estudado.

  6. A proposed contents astronomy for basic education

    NASA Astrophysics Data System (ADS)

    Albrecht, E.; Voelzke, M. R.

    2014-08-01

    A Astronomia é um tema que sempre exerceu fascínio sobre as pessoas de um modo geral. Conhecer e estudar o que há nos “céus”, além de nossos olhos, continua sendo instigador e de grande interesse. Baseado nestas justificativas desenvolveu-se uma pesquisa de Doutorado, na qual, o objetivo principal foi investigar sobre a presença dos conteúdos de Astronomia nas Propostas Curriculares da região Sul do Brasil, a saber, os estados de Paraná, Rio Grande do Sul e Santa Catarina e, posterior comparação com os Parâmetros Curriculares Nacionais (PCN) que trazem propostas de conteúdos para toda a Educação Básica brasileira. Tal investigação pautou-se na abordagem de caráter qualitativo e utilizouse para tal da Análise de Conteúdos (Bardin, 2011), que possibilitou a construção de quatro categorias, nas quais os conteúdos astronômicos foram agrupados: Terra, Sistema Solar, Via Láctea e Universo. Após a leitura, coleta de dados, construção de categorias, observou-se a dicotomia na apresentação destes conteúdos. As propostas curriculares analisadas foram as de Geografia, Ciências e Física dos estados do Paraná (2008), Rio Grande do Sul (2009) e de Santa Catarina (1998), responsáveis pelo trabalho com Astronomia nestes estados. No Ensino Fundamental, a proposta curricular do estado do Paraná apresenta conteúdos ligados à Astronomia desde o sexto ano até o nono ano, como conteúdo do primeiro bimestre, o que também é apresentado na proposta curricular do estado do Rio Grande do Sul, porém, este, não divide os conteúdos por bimestre e nem por ano, mas por ciclos, sexto e sétimo anos como primeiro ciclo e oitavo e nono anos como segundo ciclo, deixando livre para o professor estruturar sua sequência de conteúdos. A proposta curricular de Santa Catarina não apresenta estes conteúdos de maneira explícita, não divide dos conteúdos nem por ano, nem por série, traz uma sequência de conteúdos para serem trabalhados ao longo dos

  7. Men's health: non-communicable chronic diseases and social vulnerability.

    PubMed

    Bidinotto, Daniele Natália Pacharone Bertolini; Simonetti, Janete Pessuto; Bocchi, Silvia Cristina Mangini

    2016-08-15

    to evaluate the relationship between absences in scheduled appointments and the number of non-communicable chronic diseases and to investigate the relationship between spatial distribution of these diseases and social vulnerability, using geoprocessing. a quantitative study of sequential mixed approach by analyzing 158 medical records of male users to relate the absences and 1250 medical records for geoprocessing. the higher the number of absences in the scheduled medical appointments, the less were the number of non-communicable chronic diseases and the ones listed in the International Classification of Diseases in single men. There were 21 significant geostatistically cases of glucose intolerance in the urban area. Of these, 62% lived in a region with a social vulnerability rating of Very Low, Medium 19%, 14% Low and 5% High. it was observed that the older the men, the greater is the number of chronic diseases and the less they miss scheduled appointments. Regarding the use of geoprocessing, we obtained a significant number of cases of glucose intolerance in urban areas, the majority classified as Very Low social vulnerability. It was possible to relate the spatial distribution of these diseases with the social vulnerability classification; however, it was not possible to perceive a relationship of them with the higher rates of social vulnerability. avaliar a relação entre as faltas em consultas agendadas e o número de doenças crônicas não transmissíveis e averiguar a relação entre distribuição espacial dessas doenças e vulnerabilidade social, utilizando-se o geoprocessamento. estudo quantitativo, de abordagem mista sequencial, sendo analisados 158 prontuários de usuários do sexo masculino para se relacionar as faltas e 1250 prontuários para o geoprocessamento. quanto maior o número de faltas nas consultas médicas agendadas, menores foram a quantidade de doenças crônicas não transmissíveis e as listadas na Classificação Internacional de

  8. Practical Astronomical Activities during Daytime. (Spanish Title: Actividades Astronómicas Prácticas Diurnas.) Atividades Astronômicas Práticas Diurnas

    NASA Astrophysics Data System (ADS)

    Jackson, Eric

    2009-12-01

    aulas. Se a Astronomia ia ser introduzida, então era preciso encontrar uma forma de resolver essas dificuldades. Nosso grupo, trabalhando com professores e alunos numa abordagem construtivista, encontrou que os princípios da Astronomia podem ser descobertos durante o dia, enquanto os alunos estão na escola. Trabalhando de forma cooperativa os alunos mediram e registraram observações de suas próprias sombras causadas pelos movimentos da estrela mais próxima, o Sol, e nosso planeta Terra. Devido ao fato de os alunos se envolverem muito pessoalmente nas atividades, eles ficaram muito mais interessados nos resultados do estudo. A Astronomia passou a ser um desafio para o professor e seus alunos quando aplicaram suas experiências diurnas à observação noturna desde suas casas, relatada depois em sala de aula.

  9. Exploration of priority actions for strengthening the role of nurses in achieving universal health coverage.

    PubMed

    Maaitah, Rowaida Al; AbuAlRub, Raeda Fawzi

    2017-01-30

    to explore priority actions for strengthening the role of Advanced Practice Nurses (APNs) towards the achievement of Universal Health Converge (UHC) as perceived by health key informants in Jordan. an exploratory qualitative design, using a semi-structured survey, was utilized. A purposive sample of seventeen key informants from various nursing and health care sectors was recruited for the purpose of the study. Content analysis utilizing the five-stage framework approach was used for data analysis. the findings revealed that policy and regulation, nursing education, research, and workforce were identified as the main elements that influence the role of APNs in contributing to the achievement of UHC. Priority actions were identified by the participants for the main four elements. study findings confirm the need to strengthen the role of APNs to achieve UHC through a major transformation in nursing education, practice, research, leadership, and regulatory system. Nurses should unite to come up with solid nursing competencies related to APNs, PHC, UHC, leadership and policy making to strengthen their position as main actors in influencing the health care system and evidence creation. analisar as ações prioritárias para o fortalecimento do papel da enfermeira em prática avançada na Cobertura Universal de Saúde , segundo a percepção dos informantes-chave na Jordânia. foi utilizado desenho qualitativo exploratório, com um questionário semiestruturado. A amostra intencional de dezessete informantes-chave de vários setores de enfermagem e de saúde foi recrutado para o propósito do estudo. A análise de conteúdo utilizando a abordagem do quadro de cinco estágios foi utilizada para a análise de dados. os resultados revelaram que as políticas e regulações, educação em enfermagem, pesquisa e força de trabalho foram identificados como os principais elementos que influenciam o papel da enfermeira em prática avançada em contribuir para a realização da

  10. Structure and work process in primary care and hospitalizations for sensitive conditions.

    PubMed

    Araujo, Waleska Regina Machado; Queiroz, Rejane Christine de Sousa; Rocha, Thiago Augusto Hernandes; Silva, Núbia Cristina da; Thumé, Elaine; Tomasi, Elaine; Facchini, Luiz Augusto; Thomaz, Erika Barbara Abreu Fonseca

    2017-08-17

    process of the primary care teams impact the number of hospitalizations for primary care sensitive conditions in Brazilian municipalities. Investigar se características da estrutura das unidades básicas de saúde e do processo de trabalho das equipes de atenção básica estão associadas ao número de internações por condições sensíveis à atenção primária. Neste estudo ecológico, foram analisados dados de municípios brasileiros relativos a características sociodemográficas, de cobertura de programas assistenciais, de estrutura das unidades básicas de saúde e processo de trabalho das equipes de atenção básica. Os dados foram obtidos do primeiro ciclo do Programa de Melhoria do Acesso e Qualidade da Atenção Básica, do Departamento de Informática do Sistema Único de Saúde, do Instituto Brasileiro de Geografia e Estatística e do Programa das Nações Unidas. Estimaram-se as associações por meio de coeficientes de regressão binomial negativa (β) e respectivos intervalos de confiança a 95%, com abordagem hierarquizada em três blocos (alpha = 5%). Na análise ajustada, para o desfecho em 2013, no bloco distal, a cobertura do Programa Bolsa Família (β = -0,001) e de plano privado (β = -0,01) apresentaram associação negativa; e o índice de desenvolvimento humano (β = 1,13), a proporção de pessoa idosa (β = 0,05) e de menor de cinco anos (β = 0,05) e a cobertura da Estratégia de Agentes Comunitários de Saúde (β = 0,002) mostraram associação positiva com internações por condições sensíveis à atenção primária. No bloco intermediário, apresentaram associação negativa o horário mínimo (β = -0,14) e a disponibilidade de vacina (β = -0,16); e associação positiva, a disponibilidade de medicamentos (β = 0,16). No bloco proximal, apenas a variável apoio matricial (β = 0,10) mostrou associação positiva. Na análise ajustada do número de internações por condições sensíveis à atenção primária em 2014, as vari

  11. Assessment in the primary care of the State of São Paulo, Brazil: incipient actions in sexual and reproductive health.

    PubMed

    Nasser, Mariana Arantes; Nemes, Maria Ines Battistella; Andrade, Marta Campagnoni; Prado, Rogério Ruscitto do; Castanheira, Elen Rose Lodeiro

    2017-08-17

    ças sexualmente transmissíveis, no rastreamento do câncer cervical e mamário; atividades educativas pontuais, com restrita abordagem das vulnerabilidades, predomínio do enfoque da sexualidade centrado na reprodução. O domínio saúde reprodutiva tem maior participação no escore geral, seguido de prevenção/assistência e promoção. Os três domínios estão correlacionados; o domínio prevenção/assistência apresenta as maiores correlações com os demais. A implementação da saúde sexual e reprodutiva na atenção primária à saúde nos serviços estudados é incipiente. É necessário rever finalidades do trabalho, disseminar tecnologias e investir em educação permanente. O quadro avaliativo construído pode ser utilizado pelos serviços e pela gestão do programa de saúde sexual e reprodutiva na atenção primária à saúde e contribuir para suas ações.

  12. Evolution of the Astronomy Concepts Along Basic Education Cycle. (Breton Title: Evolução dos Conceitos de Astronomia no Decorrer da Educação Básica.) La Evolución de los Conceptos de Astronomía Durante la Educación Básica

    NASA Astrophysics Data System (ADS)

    Darroz, Luiz Marcelo; da Rosa, Cleci Werner; Becker da Rosa, Álvaro; Samudio Pèrez, Carlos Ariel

    2014-07-01

    learning of astronomy in basic education. Embora a astronomia seja considerada uma das ciências mais antigas da humanidade e ainda que a compreensão de seus conceitos tenha trazido enormes avanços para a Ciência e, consequentemente, para a sociedade, observa-se que uma parcela significativa de pessoas encontra-se à margem desses conhecimentos. De acordo com os Parâmetros Curriculares Nacionais para a Educação Básica, cabe à escola a difusão dos conceitos cientificamente corretos, entre eles os relacionados à área de astronomia. Pertinente a essa questão, apresenta-se uma pesquisa realizada com 140 estudantes do nono ano do ensino fundamental e com 120 estudantes da terceira série do ensino médio de quatro escolas da região de Passo Fundo/RS. Buscou-se averiguar, por meio de um questionário composto de questões abertas e de múltipla escolha, o conhecimento desse grupo de estudantes acerca de termos e fenômenos astronômicos básicos e, também, verificar se o índice de acertos cresce à medida que eles avançam nas diferentes e gradativas séries dos ensinos fundamental e médio. De modo geral, os resultados apresentados demonstram que o ensino de astronomia na educação básica enfrenta deficiências. Das 20 questões investigadas, em 17 os índices de acertos são semelhantes nas respostas dadas por estudantes de nível fundamental e médio, revelando que muitas concepções equivocadas permanecem ao longo da educação básica. Isso evidencia que tais temas não são - ou são pouco - abordados durante esses dois níveis de escolarização. Assim, conclui-se que a discussão dos conceitos relacionados com a astronomia deve receber maior ênfase na abordagem dos diferentes conteúdos, sendo necessária uma ação nacional em prol do seu ensino. Acredita-se que essa ação nacional deve estar apoiada em um pilar triplo de atores coletivos: comunidade científica, comunidade astronômica semiprofissional e comunidade escolar. Por fim, esse pilar seria