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

PubMed Central

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

2016-01-01

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

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

PubMed Central

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

2016-01-01

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

[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.

Identification of Porphyromonas gingivalis proteins secreted by the Por secretion system.

PubMed

Sato, Keiko; Yukitake, Hideharu; Narita, Yuka; Shoji, Mikio; Naito, Mariko; Nakayama, Koji

2013-01-01

The Gram-negative bacterium Porphyromonas gingivalis possesses a number of potential virulence factors for periodontopathogenicity. In particular, cysteine proteinases named gingipains are of interest given their abilities to degrade host proteins and process other virulence factors such as fimbriae. Gingipains are translocated on the cell surface or into the extracellular milieu by the Por secretion system (PorSS), which consists of a number of membrane or periplasmic proteins including PorK, PorL, PorM, PorN, PorO, PorP, PorQ, PorT, PorU, PorV (PG27, LptO), PorW and Sov. To identify proteins other than gingipains secreted by the PorSS, we compared the proteomes of P. gingivalis strains kgp rgpA rgpB (PorSS-proficient strain) and kgp rgpA rgpB porK (PorSS-deficient strain) using two-dimensional gel electrophoresis and peptide-mass fingerprinting. Sixteen spots representing 10 different proteins were present in the particle-free culture supernatant of the PorSS-proficient strain but were absent or faint in that of the PorSS-deficient strain. These identified proteins possessed the C-terminal domains (CTDs), which had been suggested to form the CTD protein family. These results indicate that the PorSS is used for secretion of a number of proteins other than gingipains and that the CTDs of the proteins are associated with the PorSS-dependent secretion. © 2012 Federation of European Microbiological Societies. Published by Blackwell Publishing Ltd. All rights reserved.

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.

Suppression of Cytochrome P450 Reductase (POR) Expression in Hepatoma Cells Replicates the Hepatic Lipidosis Observed in Hepatic POR-Null Mice

PubMed Central

Banerjee, Subhashis; Stolarczyk, Elzbieta I.; Zou, Ling

2011-01-01

Cytochrome P450 reductase (POR) is a microsomal electron transport protein essential to cytochrome P450-mediated drug metabolism and sterol and bile acid synthesis. The conditional deletion of hepatic POR gene expression in mice results in a marked decrease in plasma cholesterol levels counterbalanced by the accumulation of triglycerides in lipid droplets in hepatocytes. To evaluate the role of cholesterol and bile acid synthesis in this hepatic lipidosis, as well as the possible role of lipid transport from peripheral tissues, we developed a stable, small interfering RNA (siRNA)-mediated cell culture model for the suppression of POR. POR mRNA and protein expression were decreased by greater than 50% in McArdle-RH7777 rat hepatoma cells 10 days after transfection with a POR-siRNA expression plasmid, and POR expression was nearly completely extinguished by day 20. Immunofluorescent analysis revealed a marked accumulation of lipid droplets in cells by day 15, accompanied by a nearly 2-fold increase in cellular triglyceride content, replicating the lipidosis seen in hepatic POR-null mouse liver. In contrast, suppression of CYP51A1 (lanosterol demethylase) did not result in lipid accumulation, indicating that loss of cholesterol synthesis is not the basis for this lipidosis. Indeed, addition of cholesterol to the medium appeared to augment the lipidosis in POR-suppressed cells, whereas removal of lipids from the medium reversed the lipidosis. Oxysterols did not accumulate in POR-suppressed cells, discounting a role for liver X receptor in stimulating triglyceride synthesis, but addition of chenodeoxycholate significantly repressed lipid accumulation, suggesting that the absence of bile acids and loss of farnesoid X receptor stimulation lead to excessive triglyceride synthesis. PMID:21368239

Suppression of cytochrome P450 reductase (POR) expression in hepatoma cells replicates the hepatic lipidosis observed in hepatic POR-null mice.

PubMed

Porter, Todd D; Banerjee, Subhashis; Stolarczyk, Elzbieta I; Zou, Ling

2011-06-01

Cytochrome P450 reductase (POR) is a microsomal electron transport protein essential to cytochrome P450-mediated drug metabolism and sterol and bile acid synthesis. The conditional deletion of hepatic POR gene expression in mice results in a marked decrease in plasma cholesterol levels counterbalanced by the accumulation of triglycerides in lipid droplets in hepatocytes. To evaluate the role of cholesterol and bile acid synthesis in this hepatic lipidosis, as well as the possible role of lipid transport from peripheral tissues, we developed a stable, small interfering RNA (siRNA)-mediated cell culture model for the suppression of POR. POR mRNA and protein expression were decreased by greater than 50% in McArdle-RH7777 rat hepatoma cells 10 days after transfection with a POR-siRNA expression plasmid, and POR expression was nearly completely extinguished by day 20. Immunofluorescent analysis revealed a marked accumulation of lipid droplets in cells by day 15, accompanied by a nearly 2-fold increase in cellular triglyceride content, replicating the lipidosis seen in hepatic POR-null mouse liver. In contrast, suppression of CYP51A1 (lanosterol demethylase) did not result in lipid accumulation, indicating that loss of cholesterol synthesis is not the basis for this lipidosis. Indeed, addition of cholesterol to the medium appeared to augment the lipidosis in POR-suppressed cells, whereas removal of lipids from the medium reversed the lipidosis. Oxysterols did not accumulate in POR-suppressed cells, discounting a role for liver X receptor in stimulating triglyceride synthesis, but addition of chenodeoxycholate significantly repressed lipid accumulation, suggesting that the absence of bile acids and loss of farnesoid X receptor stimulation lead to excessive triglyceride synthesis.

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

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.

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.

[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.

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

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

Nelson, O.D.

1998-07-25

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

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

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 ...

Outer membrane vesicles from Neisseria gonorrhoeae target PorB to mitochondria and induce apoptosis

PubMed Central

Elgass, Kirstin D.; Gabriel, Kipros; Dougan, Gordon; Lithgow, Trevor; Heinz, Eva

2018-01-01

Neisseria gonorrhoeae causes the sexually transmitted disease gonorrhoea by evading innate immunity. Colonizing the mucosa of the reproductive tract depends on the bacterial outer membrane porin, PorB, which is essential for ion and nutrient uptake. PorB is also targeted to host mitochondria and regulates apoptosis pathways to promote infections. How PorB traffics from the outer membrane of N. gonorrhoeae to mitochondria and whether it modulates innate immune cells, such as macrophages, remains unclear. Here, we show that N. gonorrhoeae secretes PorB via outer membrane vesicles (OMVs). Purified OMVs contained primarily outer membrane proteins including oligomeric PorB. The porin was targeted to mitochondria of macrophages after exposure to purified OMVs and wild type N. gonorrhoeae. This was associated with loss of mitochondrial membrane potential, release of cytochrome c, activation of apoptotic caspases and cell death in a time-dependent manner. Consistent with this, OMV-induced macrophage death was prevented with the pan-caspase inhibitor, Q-VD-PH. This shows that N. gonorrhoeae utilizes OMVs to target PorB to mitochondria and to induce apoptosis in macrophages, thus affecting innate immunity. PMID:29601598

[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.

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.

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.

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

Gliding Motility and Por Secretion System Genes Are Widespread among Members of the Phylum Bacteroidetes

PubMed Central

Zhu, Yongtao

2013-01-01

The phylum Bacteroidetes is large and diverse, with rapid gliding motility and the ability to digest macromolecules associated with many genera and species. Recently, a novel protein secretion system, the Por secretion system (PorSS), was identified in two members of the phylum, the gliding bacterium Flavobacterium johnsoniae and the nonmotile oral pathogen Porphyromonas gingivalis. The components of the PorSS are not similar in sequence to those of other well-studied bacterial secretion systems. The F. johnsoniae PorSS genes are a subset of the gliding motility genes, suggesting a role for the secretion system in motility. The F. johnsoniae PorSS is needed for assembly of the gliding motility apparatus and for secretion of a chitinase, and the P. gingivalis PorSS is involved in secretion of gingipain protease virulence factors. Comparative analysis of 37 genomes of members of the phylum Bacteroidetes revealed the widespread occurrence of gliding motility genes and PorSS genes. Genes associated with other bacterial protein secretion systems were less common. The results suggest that gliding motility is more common than previously reported. Microscopic observations confirmed that organisms previously described as nonmotile, including Croceibacter atlanticus, “Gramella forsetii,” Paludibacter propionicigenes, Riemerella anatipestifer, and Robiginitalea biformata, exhibit gliding motility. Three genes (gldA, gldF, and gldG) that encode an apparent ATP-binding cassette transporter required for F. johnsoniae gliding were absent from two related gliding bacteria, suggesting that the transporter may not be central to gliding motility. PMID:23123910

Antigenic topology of chlamydial PorB protein and identification of targets for immune neutralization of infectivity.

PubMed

Kawa, Diane E; Stephens, Richard S

2002-05-15

The outer membrane protein PorB is a conserved chlamydial protein that functions as a porin and is capable of eliciting neutralizing Abs. A topological antigenic map was developed using overlapping synthetic peptides representing the Chlamydia trachomatis PorB sequence and polyclonal immune sera. To identify which antigenic determinants were surface accessible, monospecific antisera were raised to the PorB peptides and were used in dot-blot and ELISA-based absorption studies with viable chlamydial elementary bodies (EBs). The ability of the surface-accessible antigenic determinants to direct neutralizing Ab responses was investigated using standardized in vitro neutralization assays. Four major antigenic clusters corresponding to Phe(34)-Leu(59) (B1-2 and B1-3), Asp(112) -Glu(145) (B2-3 and B2-4), Gly(179)-Ala(225) (B3-2 to B3-4), and Val(261)-Asn(305) (B4-4 to B5-2) were identified. Collectively, the EB absorption and dot-blot assays established that the immunoreactive PorB Ags were exposed on the surface of chlamydial EBs. Peptide-specific antisera raised to the surface-accessible Ags neutralized chlamydial infectivity and demonstrated cross-reactivity to synthetic peptides representing analogous C. pneumoniae PorB sequences. Furthermore, neutralization of chlamydial infectivity by C. trachomatis PorB antisera was inhibited by synthetic peptides representing the surface-exposed PorB antigenic determinants. These findings demonstrate that PorB Ags may be useful for development of chlamydial vaccines.

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.

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.

[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.

Low oxygen environment facilitates embryo availability for older ovarian responders (PORs).

PubMed

Li, Mingzhao; Li, Zhibin; Shi, Juanzi

2018-04-18

We aimed to investigate the different effects of low oxygen (5% O 2 ) and atmospheric oxygen (20% O 2 ) on in vitro fertilization for older poor ovarian responders (PORs). We selected 1080 older PORs who met two criteria: (i) advanced maternal age (≥40) and (ii) an abnormal ovarian reserve test. All the patients used the ultra-short term protocols with GnRH agonist and recombinant FSH for controlled ovarian hyperstimulation (COH). About 506 cycles were performed in the incubators with 5% O 2 and 574 cycles were performed in the incubators with 20% O 2 . No significant differences were observed in normal fertilization rates (59.68 versus 60.25%; p = .691) and cancelation rates (18.97 versus 19.34%; p = .879) between two groups. The number of available embryos (1.77 ± 0.57 versus 1.52 ± 0.50; p = .041) and mean number of cells on Day 3 (7.49 ± 1.82 versus 7.16 ± 1.70; p = .032) were significantly higher in 5% O 2 group compared to that in 20% O 2 group. It showed no significant differences in the implantation rates (27.43 versus 24.11%; p = .803) and clinical pregnancy rates (36.34 versus 30.05%; p = .307) between two groups. The employ of low oxygen culture did not improve clinical pregnancy rate for older PORs. However, it benefited early embryonic development for older PORs.

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

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.

[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.

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

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

NASA Astrophysics Data System (ADS)

Espi Huerta, Jose Miguel

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

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

PubMed

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

2016-08-01

Protochlorophyllide oxidoreductase (POR) catalyzes the light-driven reduction of protochlorophyllide (Pchlide), an essential, regulatory step in chlorophyll biosynthesis. The unique requirement of the enzyme for light has provided the opportunity to investigate how light energy can be harnessed to power biological catalysis and enzyme dynamics. Excited state interactions between the Pchlide molecule and the protein are known to drive the subsequent reaction chemistry. However, the structural features of POR and active site residues that are important for photochemistry and catalysis are currently unknown, because there is no crystal structure for POR. Here, we have used static and time-resolved spectroscopic measurements of a number of active site variants to study the role of a number of residues, which are located in the proposed NADPH/Pchlide binding site based on previous homology models, in the reaction mechanism of POR. Our findings, which are interpreted in the context of a new improved structural model, have identified several residues that are predicted to interact with the coenzyme or substrate. Several of the POR variants have a profound effect on the photochemistry, suggesting that multiple residues are important in stabilizing the excited state required for catalysis. Our work offers insight into how the POR active site geometry is finely tuned by multiple active site residues to support enzyme-mediated photochemistry and reduction of Pchlide, both of which are crucial to the existence of life on Earth. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.

VERA-CS User Support Activities for PoR 14

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

Kochunas, Brendan

2017-11-01

The purpose of this milestone is to document the user support activities that took place between 10/1/2016 and 3/31/2017 (PoR 14). In the normal PHI workflow, that also extends to several activities within RTM, a Kanban process is followed. This involves creating tickets for specific work items and track the progress to complete these specific work items.

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.

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.

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.

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

A role for POR1, a Rac1-interacting protein, in ARF6-mediated cytoskeletal rearrangements.

PubMed Central

D'Souza-Schorey, C; Boshans, R L; McDonough, M; Stahl, P D; Van Aelst, L

1997-01-01

The ARF6 GTPase, the least conserved member of the ADP ribosylation factor (ARF) family, associates with the plasma membrane and intracellular endosome vesicles. Mutants of ARF6 defective in GTP binding and hydrolysis have a marked effect on endocytic trafficking and the gross morphology of the peripheral membrane system. Here we report that expression of the GTPase-defective mutant of ARF6, ARF6(Q67L), remodels the actin cytoskeleton by inducing actin polymerization at the cell periphery. This cytoskeletal rearrangement was inhibited by co-expression of ARF6(Q67L) with deletion mutants of POR1, a Rac1-interacting protein involved in membrane ruffling, but not with the dominant-negative mutant of Rac1, Rac1(S17N). A synergistic effect between POR1 and ARF6 for the induction of actin polymerization was detected. Furthermore, we observed that ARF6 interacts directly with POR1 and that this interaction was GTP dependent. These findings indicate that ARF6 and Rac1 function on distinct signaling pathways to mediate cytoskeletal reorganization, and suggest a role for POR1 as an important regulatory element in orchestrating cytoskeletal rearrangements at the cell periphery induced by ARF6 and Rac1. PMID:9312003

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�

Effect of SPM-based cleaning POR on EUV mask performance

NASA Astrophysics Data System (ADS)

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

2011-11-01

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

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

NASA Astrophysics Data System (ADS)

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

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

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

Determinacion del error sistematico del momentum de muones producidos por interacciones neutrino-nucleon en el detector MINER$$\

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

Diaz Bautista, Gonzalo A.

El Modelo Estandar describe todas las partculas observadas en el naturaleza hasta el momento as como las caractersticas que gobiernan a las interacciones fundamentales entre ellas. En especial es posible identicar a las interacciones electromagnetica y debil, las cuales bajo determinadas condiciones de temperatura y energa pueden ser descritas a traves de una sola teora que engloba a ambas. A esta teora se le denomina electrodebil y tiene como nalidad caracterizar las propiedades de la interaccion maniesta a partir de la mezcla de las interacciones electromagnetica y debil, la que tambien lleva como nombre interaccion electrodebil. Particularmente, los neutrinos sonmore » de especial interes ya que, por un lado, interactuan por medio de la interaccion debil muy raramente en comparacion con otras partculas y, por el otro, no son acertadamente descritos por el Modelo Estandar. Por medio de observaciones experimentales que demostraban que los neutrinos cambian de sabor al propagarse, fenomeno llamado oscilaciones de neutrinos, se pudo llegar a la conclusion de que la implicancia de este fenomeno da como consecuencia que los neutrinos efectivamente s tienen masa, algo que entra en contradiccion con la descripcion inicial del Modelo Estandar, el cual los describe como partculas sin masa. Es de esta manera que las oscilaciones de neutrinos han sido y siguen siendo en la actualidad objeto de interes en la Fsica de Altas Energas tanto teorica como experimental. A n de poder realizar mediciones precisas de oscilaciones de neutrinos, los experimentos encargados de estas mediciones deben tratar de reducir sus incertidumbres en lo posible. Una de estas proviene de la caracterizacion de las secciones de choque de los neutrinos cuando interactuan con la materia, particularmente los nucleones al interior de los nucleos atomicos. El experimento MINERA esta orientado, entre otras cosas, a hacer una correcta caracterizacion de secciones de choque neutrino-nucleon por medio del

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

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.

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

Mapping the Laminin Receptor Binding Domains of Neisseria meningitidis PorA and Haemophilus influenzae OmpP2

PubMed Central

Mahdavi, Jafar; Oldfield, Neil J.; Wheldon, Lee M.; Wooldridge, Karl G.; Ala'Aldeen, Dlawer A. A.

2012-01-01

Neisseria meningitidis, Haemophilus influenzae and Streptococcus pneumoniae are major bacterial agents of meningitis. They each bind the 37/67-kDa laminin receptor (LamR) via the surface protein adhesins: meningococcal PilQ and PorA, H. influenzae OmpP2 and pneumococcal CbpA. We have previously reported that a surface-exposed loop of the R2 domain of CbpA mediates LamR-binding. Here we have identified the LamR-binding regions of PorA and OmpP2. Using truncated recombinant proteins we show that binding is dependent on amino acids 171–240 and 91–99 of PorA and OmpP2, respectively, which are predicted to localize to the fourth and second surface-exposed loops, respectively, of these proteins. Synthetic peptides corresponding to the loops bound LamR and could block LamR-binding to bacterial ligands in a dose dependant manner. Meningococci expressing PorA lacking the apex of loop 4 and H. influenzae expressing OmpP2 lacking the apex of loop 2 showed significantly reduced LamR binding. Since both loops are hyper-variable, our data may suggest a molecular basis for the range of LamR-binding capabilities previously reported among different meningococcal and H. influenzae strains. PMID:23049988

Mapping the laminin receptor binding domains of Neisseria meningitidis PorA and Haemophilus influenzae OmpP2.

PubMed

Abouseada, Noha M; Assafi, Mahde Saleh A; Mahdavi, Jafar; Oldfield, Neil J; Wheldon, Lee M; Wooldridge, Karl G; Ala'Aldeen, Dlawer A A

2012-01-01

Neisseria meningitidis, Haemophilus influenzae and Streptococcus pneumoniae are major bacterial agents of meningitis. They each bind the 37/67-kDa laminin receptor (LamR) via the surface protein adhesins: meningococcal PilQ and PorA, H. influenzae OmpP2 and pneumococcal CbpA. We have previously reported that a surface-exposed loop of the R2 domain of CbpA mediates LamR-binding. Here we have identified the LamR-binding regions of PorA and OmpP2. Using truncated recombinant proteins we show that binding is dependent on amino acids 171-240 and 91-99 of PorA and OmpP2, respectively, which are predicted to localize to the fourth and second surface-exposed loops, respectively, of these proteins. Synthetic peptides corresponding to the loops bound LamR and could block LamR-binding to bacterial ligands in a dose dependant manner. Meningococci expressing PorA lacking the apex of loop 4 and H. influenzae expressing OmpP2 lacking the apex of loop 2 showed significantly reduced LamR binding. Since both loops are hyper-variable, our data may suggest a molecular basis for the range of LamR-binding capabilities previously reported among different meningococcal and H. influenzae strains.

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

PubMed

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

2013-01-01

Laparoscopy cholecystectomy for the surgical treatment of cholelithiasis has been considered the gold standard. The referred pain to the shoulder (omalgia) may be present to 63% of the patients and limits outpatient management. The study was to evaluate the usefulness of acetazolamide associated with ketorolac for reduction of the omalgia to minimally invasive treatment. We performed a clinical trial, randomized, double blind in patients undergoing laparoscopic cholecystectomy to assess the reduction of post-operative omalgia comparing ketorolac and ketorolaco+acetazolamida. 31 patients in each group were studied. The study group: 250 mg of acetazolamide before anesthetic induction and 30 mg of ketorolac in the immediate postoperative period. one tablet of placebo prior to the anesthetic induction and 30 mg of ketorolac in the immediate postoperative. The presence of omalgia was assessed using the analog visual scale. The variables recorded included: age, sex, flow of carbon dioxide intra-abdominal pressure, surgical time, urgent or elective surgery, omalgia, severity of pain evaluated by analog visual scale, addition analgesia. Both groups were homogeneous and statistical analysis showed no differences in the variables studied. The omalgia in the study group was presented at 9.67% and in the group control was the 58.06% (p < 0.001). 250 mg oral acetazolamide associated 30 mg of ketorolac reduces significantly the development of omalgia in patients undergoing laparoscopic cholecystectomy.

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

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.

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 .

Trombocitopenia induzida por heparina em paciente com oclusão arterial aguda

PubMed Central

Pimenta, Rafael Elias Farres; Yoshida, Winston Bonetti; Rollo, Hamilton Almeida; Sobreira, Marcone Lima; Bertanha, Matheus; Mariúba, Jamil Victor de Oliveira; Jaldin, Rodrigo Gibin; de Camargo, Paula Angeleli Bueno

2016-01-01

Resumo A trombocitopenia induzida por heparina é uma complicação grave da terapêutica anticoagulante com heparina e está associada à formação de anticorpos antifator IV plaquetário. Costuma surgir a partir do quinto dia do tratamento, com queda de pelo menos 50% da contagem plaquetária. Em decorrência da ativação plaquetária concomitante, pode ocorrer quadro de trombose, venosa ou arterial, com repercussões clínicas graves. Apresentamos um caso de paciente portador de síndrome do anticorpo antifosfolípide, com quadro de oclusão arterial aguda, que foi tratado cirurgicamente e recebeu heparina não fracionada no intra e pós-operatório. No quinto dia de tratamento anticoagulante, apresentou queda maior de 50% da contagem de plaquetas em relação à contagem pré-heparina. A suspeita de trombocitopenia induzida por heparina e seus aspectos diagnósticos e terapêuticos serão abordados neste desafio terapêutico.

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

PubMed Central

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

2015-01-01

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

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

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.

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

PubMed

Keum, Brian TaeHyuk; Miller, Matthew J

2017-04-01

The purpose of this study was to develop the Perceived Online Racism Scale (PORS) to assess perceived online racist interpersonal interactions and exposure to online racist content among people of color. Items were developed through a multistage process involving a comprehensive literature review, focus-groups, qualitative data collection, and survey of online racism experiences. Based on a sample of 1,023 racial minority participants, exploratory and confirmatory factor analyses provided support for a 30-item bifactor model accounted by the general factor and the following 3 specific factors: (a) personal experience of racial cyber-aggression, (b) vicarious exposure to racial cyber-aggression, and (c) online-mediated exposure to racist reality. The PORS demonstrated measurement invariance across racial/ethnic groups in our sample. Internal reliability estimates for the total and subscale scores of the PORS were above .88 and the 4-week test-retest reliability was adequate. Limitations and future directions for research are discussed. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

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

PubMed

Mydlík, M; Derzsiová, K

2010-11-01

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

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.

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.

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

PubMed Central

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

2016-01-01

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

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

PubMed Central

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

2016-01-01

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

The enhanced immune responses induced by Salmonella enteritidis ghosts loaded with Neisseria gonorrhoeae porB against Salmonella in mice.

PubMed

Jiao, Hongmei; Yang, Hui; Zhao, Dan; He, Li; Chen, Jin; Li, Guocai

2016-11-01

Human health has been seriously endangered by highly prevalent salmonellosis and multidrug-resistant Salmonella strains. Current vaccines suffer from variable immune-protective effects, so more effective ones are needed to control Salmonella infection : Bacterial ghosts have been produced by the expression of lysis gene E from bacteriophage PhiX174 and can be filled with considerable exogenous substances such as DNA or drugs as a novel platform. In this study, Salmonella enteritidis (SE) ghosts were developed and loaded with Neisseria gonorrhoeae porin B (porB) to construct a novel inactive vaccine. Our new studies show that SE ghosts loaded with porB displayed increased production of pro-inflammatory cytokines (IL-1β, IL-6, IL-10 and IL-12p70) in bone marrow-derived dendritic cells (BMDCs), and elicited significantly higher specific systemic and mucosal immune responses to Salmonella than SE ghosts alone. In addition, the novel porB-loaded ghosts conferred higher protective effects on virulent Salmonella challenge. For the first time, we demonstrate that N. gonorrhoeae porB, as a novel adjuvant, can increase the immunogenicity of SE ghosts. Our studies suggested that Salmonella enteritidis ghosts loaded with Neisseria gonorrhoeae porin B might be a useful mucosal Salmonella vaccine candidate for practical use in the future. © FEMS 2016. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

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).

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

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

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.

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.

Diagnóstico diferencial en la encefalitis por anticuerpos contra el receptor NMDA

PubMed Central

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

2011-01-01

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

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

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).

Reconstrução tridimensional de arcos magnéticos por tomografia

NASA Astrophysics Data System (ADS)

Simões, P. J. A.; Costa, J. E. R.

2003-08-01

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

The Acquisition of Lexical Meaning in a Study Abroad Context: The Spanish Prepositions "por" and "para."

ERIC Educational Resources Information Center

Lafford, Barbara A.; Ryan, John M.

1995-01-01

Examination of the development of form/function relations of the prepositions "por" and "para" at different levels of proficiency in the interlanguage of study-abroad students in Granada, Spain, revealed "noncanonical" as well as "canonical" uses of these prepositions. The most common noncanonical uses were…

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

PubMed

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

2005-12-01

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

Adjuvant Effects Elicited by Novel Oligosaccharide Variants of Detoxified Meningococcal Lipopolysaccharides on Neisseria meningitidis Recombinant PorA Protein: A Comparison in Mice

PubMed Central

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

2014-01-01

Neisseria meningitidis lipopolysaccharide (LPS) has adjuvant properties that can be exploited to assist vaccine immunogenicity. The modified penta-acylated LPS retains the adjuvant properties of hexa-acylated LPS but has a reduced toxicity profile. In this study we investigated whether two modified glycoform structures (LgtE and IcsB) of detoxified penta-acylated LPS exhibited differential adjuvant properties when formulated as native outer membrane vesicles (nOMVs) as compared to the previously described LgtB variant. Detoxified penta-acylated LPS was obtained by disruption of the lpxL1 gene (LpxL1 LPS), and three different glycoforms were obtained by disruption of the lgtB, lgtE or icsB genes respectively. Mice (mus musculus) were immunized with a recombinant PorA P1.7-2,4 (rPorA) protein co-administered with different nOMVs (containing a different PorA serosubtype P1.7,16), each of which expressed one of the three penta-acylated LPS glycoforms. All nOMVs induced IgG responses against the rPorA, but the nOMVs containing the penta-acylated LgtB-LpxL1 LPS glycoform induced significantly greater bactericidal activity compared to the other nOMVs or when the adjuvant was Alhydrogel. Compared to LgtE or IcsB LPS glycoforms, these data support the use of nOMVs containing detoxified, modified LgtB-LpxL1 LPS as a potential adjuvant for future meningococcal protein vaccines. PMID:25545241

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

ERIC Educational Resources Information Center

Friedrich, Daniel S.

2010-01-01

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

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.

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.

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.

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.

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.

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

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

NASA Astrophysics Data System (ADS)

Morales Ramos, Egda M.

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

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.

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

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.

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

PubMed Central

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

2011-01-01

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

Acceptance test report for portable exhauster POR-007/Skid E

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

Kriskovich, J.R.

1998-07-24

This document describes Acceptance Testing performed on Portable Exhauster POR-007/Skid E. It includes measurements of bearing vibration levels, pressure decay testing, programmable logic controller interlocks, high vacuum, flow and pressure control functional testing. The purpose of Acceptance testing documented by this report was to demonstrate compliance of the exhausters with the performance criteria established within HNF-0490, Rev. 1 following a repair and upgrade effort at Hanford. In addition, data obtained during this testing is required for the resolution of outstanding Non-conformance Reports (NCR), and finally, to demonstrate the functionality of the associated software for the pressure control and high vacuummore » exhauster operating modes provided for by W-320. Additional testing not required by the ATP was also performed to assist in the disposition and close out of receiving inspection report and for application design information (system curve). Results of this testing are also captured within this document.« less

[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.

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.

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.

Study of the interaction mechanisms between absorbed NO{sub 2} and por-Si/SnO{sub x} nanocomposite layers

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

Bolotov, V. V.; Kan, V. E., E-mail: kan@obisp.oscsbras.ru; Makushenko, R. K.

2013-10-15

The interaction mechanisms between NO{sub 2} molecules and the surface of por-Si/SnO{sub x} nanocomposites obtained by magnetron deposition and chemical vapor deposition (CVD) are studied by infrared absorption spectroscopy and electron paramagnetic resonance methods. The observed increase in the free carrier concentration in the por-Si/SnO{sub x} nanocomposite layers is explained by a change in the charge state of P{sub b} centers due to the formation of neutral 'surface defect-adsorbed NO{sub 2} molecule' complexes with free carrier generation in the crystallite bulk. In the nanocomposite layers grown by the CVD method, the increase in the free hole concentration during NO{sub 2}more » adsorption is much less pronounced in comparison with the composite grown by magnetron deposition, which is caused by the competing interaction channel of NO{sub 2} molecules with electrically neutral P{sub b} centers.« less

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

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.

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

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.

[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.

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.

Acceptance test report for portable exhauster POR-008/Skid F

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

Kriskovich, J.R.

1998-07-24

Portable Exhauster POR-008 was procured via HNF-0490, Specification for a Portable Exhausted System for Waste Tank Ventilation. Prior to taking ownership, acceptance testing was performed at the vendors. However at the conclusion of testing a number of issues remained that required resolution before the exhausters could be used by Project W-320. The purpose of acceptance testing documented by this report was to demonstrate compliance of the exhausters with the performance criteria established within HNF-O49O, Rev. 1 following a repair and upgrade effort at Hanford. In addition, data obtained during this testing is required for the resolution of outstanding Non-conformance Reportsmore » (NCR), and finally, to demonstrate the functionality of the associated software for the pressure control and high vacuum exhauster operating modes provided for by W-320. Additional testing not required by the ATP was also performed to assist in the disposition and close out of receiving inspection report and for application design information (system curve). Results of this testing are also captured within this document.« less

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

NASA Astrophysics Data System (ADS)

Voelzke, Marcos Rincon; Gonzaga, Edson Pereira

2011-12-01

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

Using the PORS Problems to Examine Evolutionary Optimization of Multiscale Systems

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

Reinhart, Zachary; Molian, Vaelan; Bryden, Kenneth

2013-01-01

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

[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.

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

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.

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.

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.

Adult Student Retention and Achievement with Language-Based Modular Materials. POR FIN: Program Organizing Related Family Instruction in the Neighborhood.

ERIC Educational Resources Information Center

Bexar County School Board, San Antonio, TX.

The goal of the POR FIN research design was to develop a language-based curriculum emphasizing the audiolingual approach and integrating academic and social-functioning subject matter. The modular curriculum is designed so that each lesson is independent and complete in itself, and provides a high degree of motivation, retention, and achievement…

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.

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

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

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.

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

Characterisation by multilocus sequence and porA and flaA typing of Campylobacter jejuni isolated from samples of dog faeces collected in one city in New Zealand.

PubMed

Mohan, V; Stevenson, M A; Marshall, J C; French, N P

2017-07-01

To investigate the prevalence of Campylobacter spp. and C. jejuni in dog faecal material collected from dog walkways in the city of Palmerston North, New Zealand, and to characterise the C. jejuni isolates by multilocus sequence typing (MLST) and porA and flaA antigen gene typing. A total of 355 fresh samples of dogs faeces were collected from bins provided for the disposal of dog faeces in 10 walkways in Palmerston North, New Zealand, between August 2008-July 2009. Presumptive Campylobacter colonies, cultured on modified charcoal cefoperazone deoxycholate plates, were screened for genus Campylobacter and C. jejuni by PCR. The C. jejuni isolates were subsequently characterised by MLST and porA and flaA typing, and C. jejuni sequence types (ST) were assigned. Of the 355 samples collected, 72 (20 (95% CI=16-25)%) were positive for Campylobacter spp. and 22 (6 (95% CI=4-9)%) were positive for C. jejuni. Of the 22 C. jejuni isolates, 19 were fully typed by MLST. Ten isolates were assigned to the clonal complex ST-45 and three to ST-52. The allelic combinations of ST-45/flaA 21/porA 44 (n=3), ST-45/flaA 22/porA 53 (n=3) and ST-52/ flaA 57/porA 905 (n=3) were most frequent. The successful isolation of C. jejuni from canine faecal samples collected from faecal bins provides evidence that Campylobacter spp. may survive outside the host for at least several hours despite requiring fastidious growth conditions in culture. The results show that dogs carry C. jejuni genotypes (ST-45, ST-50, ST-52 and ST-696) that have been reported in human clinical cases. Although these results do not provide any evidence either for the direction of infection or for dogs being a potential risk factor for human campylobacteriosis, dog owners are advised to practice good hygiene with respect to their pets to reduce potential exposure to infection.

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.

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.

[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.

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

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.

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

ERIC Educational Resources Information Center

Rivera-Bermudez, Carmen D.

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

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.

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.

Protection by meningococcal outer membrane protein PorA-specific antibodies and a serogroup B capsular polysaccharide-specific antibody in complement-sufficient and C6-deficient infant rats.

PubMed

Toropainen, Maija; Saarinen, Leena; Vidarsson, Gestur; Käyhty, Helena

2006-05-01

The relative contributions of antibody-induced complement-mediated bacterial lysis and antibody/complement-mediated phagocytosis to host immunity against meningococcal infections are currently unclear. Further, the in vivo effector functions of antibodies may vary depending on their specificity and Fc heavy-chain isotype. In this study, a mouse immunoglobulin G2a (mIgG2a) monoclonal antibody (MN12H2) to meningococcal outer membrane protein PorA (P1.16), its human IgG subclass derivatives (hIgG1 to hIgG4), and an mIgG2a monoclonal antibody (Nmb735) to serogroup B capsular polysaccharide (B-PS) were evaluated for passive protection against meningococcal serogroup B strain 44/76-SL (B:15:P1.7,16) in an infant rat infection model. Complement component C6-deficient (PVG/c-) rats were used to assess the importance of complement-mediated bacterial lysis for protection. The PorA-specific parental mIgG2a and the hIgG1 to hIgG3 derivatives all induced efficient bactericidal activity in vitro in the presence of human or infant rat complement and augmented bacterial clearance in complement-sufficient HsdBrlHan:WIST rats, while the hIgG4 was unable to do so. In C6-deficient PVG/c- rats, lacking complement-mediated bacterial lysis, the augmentation of bacterial clearance by PorA-specific mIgG2a and hIgG1 antibodies was impaired compared to that in the syngeneic complement-sufficient PVG/c+ rat strain. This was in contrast to the case for B-PS-specific mIgG2a, which conferred similar protective activity in both rat strains. These data suggest that while anti-B-PS antibody can provide protection in the infant rats without membrane attack complex formation, the protection afforded by anti-PorA antibody is more dependent on the activation of the whole complement pathway and subsequent bacterial lysis.

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

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.

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.

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.

Seguridad del paciente en Radioterapia Intraoperatoria: Impacto de los elementos controlados por el Radiofisico

NASA Astrophysics Data System (ADS)

Tarjuelo, Juan Lopez

Introduccion: En la administracion de la radioterapia intervienen profesionales y equipos de tratamiento, por lo que existe el riesgo de error y se precisa que dicho equipamiento funcione conforme a lo esperado. A los radiofisicos les corresponde participar en las actividades de garantia o aseguramiento de la calidad, incluyendo el control de calidad de los equipos, y en la evaluacion de los riesgos asociados. La radioterapia intraoperatoria (RIO) es una tecnica radioterapica de intensificacion de dosis, altamente selectiva, dirigida a volumenes anatomicos restringidos durante el tratamiento quirurgico oncologico, basada en la administracion de una dosis absorbida alta por medio de un haz de electrones tras el examen visual directo del lecho tumoral. Como incorporar los ultimos avances en el refuerzo de la seguridad en radioterapia es una tarea ambiciosa y compleja, resulta mas concreta y de inmediata aplicacion su introduccion en la RIO. El objetivo es analizar los elementos que reducen los riesgos y aumentan la seguridad en la RIO y su dosimetria, y valorar la funcion del radiofisico en esta labor. Material y metodos: Se emplearon el planificador Radiance de GMV y el acelerador lineal de los tratamientos de RIO Elekta Precise, controlado con el verificador diario de haces Daily QA Check 1090 y medido con las camaras de ionizacion PPC 40, FC65-G y FC65-P de PTW-Freiburg, a su vez verificadas con fuentes radiactivas adecuadas de estroncio-90 modelos CDP y CDC de IBA Dosimetry. Se realizo un analisis de modos de fallo y efectos (failure mode and effect analysis, FMEA) con el fin de identificar los elementos que forman la RIO y aplicar las herramientas necesarias para la minimizacion de los riesgos y la mejora de la seguridad en la tecnica. Se estudiaron las verificaciones diarias de dicho acelerador Precise con el control estadistico de procesos (statistical process control, SPC) y se simularon intervenciones para devolverlo al estado llamado en control. El SPC

Fabrication of por-Si/SnO{sub x} nanocomposite layers for gas microsensors and nanosensors

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

Bolotov, V. V., E-mail: bolotov@obisp.oscsbras.ru; Korusenko, P. M.; Nesov, S. N.

2011-05-15

Two-phase nanocomposite layers based on porous silicon and nonstoichiometric tin oxide were fabricated by various methods. The structure, as well as elemental and phase composition, of the obtained nanocomposites were studied using transmission and scanning electron microscopy, Raman spectroscopy, Auger electron spectroscopy, and X-ray photoelectron spectroscopy. The results obtained confirm the formation of nanocomposite layers with a thickness as large as 2 {mu}m thick and SnO{sub x} stoichiometry coefficients x = 1.0-2.0. Significant tin diffusion into the porous silicon matrix with D{sub eff} Almost-Equal-To 10{sup -14} cm{sup 2} s{sup -1} was observed upon annealing at 770 K. Test sensor structuresmore » based on por-Si/SnO{sub x} nanocomposite layers grown by magnetron deposition showed fairly high stability of properties and sensitivity to NO{sub 2}.« less

Being a mother and a por día domestic worker. Companionship and deprivation.

PubMed

Bernal, P; Meleis, A I

1995-08-01

This article presents qualitative findings concerning women's maternal roles, based on interviews conducted in a study on role integration and health, in a Colombian sample of 60 women who are "por día" domestic workers. The results describe the women's worldview as they discuss the stresses and the satisfactions of their mothering roles. The results also include the coping strategies used to deal with the stresses inherent in the maternal role. Women describe how the companionship of their children, watching their children grow, and the nurturing they give their children provides them with pride and deep satisfaction. These satisfying aspects of their role are burdened by the stress related to worry about children's bad behavior, their illness, and a pervasive generalized sense of constant worry. Being single parents adds more stress to these women's lives. Participants coped emotionally through distraction and through talking with friends. Other coping strategies included calming self, problem solving, talking with children, and substance use. The authors conclude with a discussion of the relationship between poverty and work situation as contexts for understanding maternal roles.

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

[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.

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.

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

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.

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 .

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

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

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

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.

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

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

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

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.

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.

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

PubMed Central

Cruz, Carina Rebello; Finger, Ingrid

2014-01-01

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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

PubMed Central

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

2016-01-01

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

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

PubMed Central

Connor, Phillip; Massey, Douglas

2013-01-01

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

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

NASA Astrophysics Data System (ADS)

Martinez Mateo, Isidoro Jose

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

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

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

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

Mujeres felices por ser saludables: a breast cancer risk reduction program for Latino women.

PubMed

Fitzgibbon, Marian L; Gapstur, Susan M; Knight, Sara J

2003-05-01

Breast cancer is the most commonly diagnosed cancer and the most common cause of cancer mortality among Latino women. Several behavioral factors such as early detection and dietary practices could help decrease morbidity and mortality associated with breast cancer in this population. Unfortunately, there are few data regarding the efficacy of health-related interventions for young Latino women. Mujeres Felices por ser Saludables is a randomized intervention project designed to assess breast cancer risk reduction behavior among Latino women ages 20-40 years. The primary objectives of the project were to determine whether an 8-month integrated dietary/breast health intervention could lead to a greater reduction in dietary fat, increase in dietary fiber, increase in the frequency and proficiency of breast self examination (BSE), and reduction in anxiety related to BSE compared to controls. Herein we describe the overall design of the project and present baseline characteristics of the 256 randomized women. Our results suggest that the average daily intake of dietary fat (percentage of total energy) was slightly below 30% (percentage of total energy) among the women randomized. While over half of these women reported that they practice BSE, and few reported anxiety related to BSE, less than 27% of women were proficient in the recommended BSE technique. There are few data on the dietary and breast health behaviors of young low-acculturated Latino women. This study documents the feasibility of recruiting, randomizing, and obtaining both baseline dietary and breast health data on this unique and underserved population.

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

NASA Astrophysics Data System (ADS)

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

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

Relationship of CYP2D6, CYP3A, POR, and ABCB1 genotypes with galantamine plasma concentrations.

PubMed

Noetzli, Muriel; Guidi, Monia; Ebbing, Karsten; Eyer, Stephan; Zumbach, Serge; Giannakopoulos, Panteleimon; von Gunten, Armin; Csajka, Chantal; Eap, Chin B

2013-04-01

The frequently prescribed antidementia drug galantamine is extensively metabolized by the enzymes cytochrome P450 (CYP) 2D6 and CYP3A and is a substrate of the P-glycoprotein. We aimed to study the relationship between genetic variants influencing the activity of these enzymes and transporters with galantamine steady state plasma concentrations. In this naturalistic cross-sectional study, 27 older patients treated with galantamine were included. The patients were genotyped for common polymorphisms in CYP2D6, CYP3A4/5, POR, and ABCB1, and galantamine steady state plasma concentrations were determined. The CYP2D6 genotype seemed to be an important determinant of galantamine pharmacokinetics, with CYP2D6 poor metabolizers presenting 45% and 61% higher dose-adjusted galantamine plasma concentrations than heterozygous and homozygous CYP2D6 extensive metabolizers (median 2.9 versus 2.0 ng/mL · mg, P = 0.025, and 1.8 ng/mL · mg, P = 0.004), respectively. The CYP2D6 genotype significantly influenced galantamine plasma concentrations. The influence of CYP2D6 polymorphisms on the treatment efficacy and tolerability should be further investigated.

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.

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.

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

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.

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.

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

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

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.

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

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.

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.

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.

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.

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

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

The Sangre Por Salud Biobank: Facilitating Genetic Research in an Underrepresented Latino Community.

PubMed

Shaibi, Gabriel; Singh, Davinder; De Filippis, Eleanna; Hernandez, Valentina; Rosenfeld, Bill; Otu, Essen; Montes de Oca, Gregorio; Levey, Sharon; Radecki Breitkopf, Carmen; Sharp, Richard; Olson, Janet; Cerhan, James; Thibodeau, Stephen; Winkler, Erin; Mandarino, Lawrence

2016-01-01

The Sangre Por Salud (Blood for Health; SPS) Biobank was created for the purpose of expanding precision medicine research to include underrepresented Latino patients. It is the result of a unique collaboration between Mayo Clinic and Mountain Park Health Center, a federally qualified community health center in Phoenix, Arizona. This report describes the rationale, development, implementation, and characteristics of the SPS Biobank. Latino adults (ages 18-85 years) who were active patients within Mountain Park Health Center's internal medicine practice in Phoenix, Ariz., and had no history of diabetes were eligible. Participants provided a personal and family history of chronic disease, completed a sociodemographic, psychosocial, and behavioral questionnaire, underwent a comprehensive cardiometabolic risk assessment (anthropometrics, blood pressure and labs), and provided blood samples for banking. Laboratory results of cardiometabolic testing were returned to the participants and their providers through the electronic health record. During the first 2 years of recruitment into the SPS Biobank, 2,335 patients were approached and 1,432 (61.3%) consented to participate; 1,354 (94.5%) ultimately completed all requisite questionnaires and medical evaluations. The cohort is primarily Spanish-speaking (72.9%), female (73.3%), with a mean age of 41.3 ± 12.5 years. Most participants were born outside of the US (77.9%) and do not have health insurance (77.5%). The prevalence of overweight (35.5%) and obesity (45.0%) was high, as was previously unidentified prediabetes (55.9%), type 2 diabetes (7.4%), prehypertension (46.8%), and hypertension (16.2%). The majority of participants rated their health as good to excellent (72.1%) and, as a whole, described their overall quality of life as high (7.9/10). Collaborative efforts such as the SPS Biobank are critical for ensuring that underrepresented minority populations are included in precision medicine initiatives and biomedical

The Sangre Por Salud Biobank: Facilitating Genetic Research in an Underrepresented Latino Community

PubMed Central

Shaibi, Gabriel; Singh, Davinder; De Filippis, Eleanna; Hernandez, Valentina; Rosenfeld, Bill; Otu, Essen; de Oca, Gregorio Montes; Levey, Sharon; Breitkopf, Carmen Radecki; Sharp, Richard; Olson, Janet; Cerhan, James; Thibodeau, Stephen; Winkler, Erin; Mandarino, Lawrence

2018-01-01

Background/Aims The Sangre Por Salud (Blood for Health; SPS) Biobank was created for the purpose of expanding precision medicine research to include underrepresented Latino patients. It is the result of a unique collaboration between Mayo Clinic and Mountain Park Health Center, a federally qualified community health center in Phoenix, Arizona. This report describes the rationale, development, implementation, and characteristics of the SPS Biobank. Methods Latino adults (ages 18–85 years) who were active patients within Mountain Park Health Center’s internal medicine practice in Phoenix, Ariz., and had no history of diabetes were eligible. Participants provided a personal and family history of chronic disease, completed a sociodemographic, psychosocial, and behavioral questionnaire, underwent a comprehensive cardiometabolic risk assessment (anthropometrics, blood pressure and labs), and provided blood samples for banking. Laboratory results of cardiometabolic testing were returned to the participants and their providers through the electronic health record. Results During the first 2 years of recruitment into the SPS Biobank, 2,335 patients were approached and 1,432 (61.3%) consented to participate; 1,354 (94.5%) ultimately completed all requisite questionnaires and medical evaluations. The cohort is primarily Spanish-speaking (72.9%), female (73.3%), with a mean age of 41.3 ± 12.5 years. Most participants were born outside of the US (77.9%) and do not have health insurance (77.5%). The prevalence of overweight (35.5%) and obesity (45.0%) was high, as was previously unidentified prediabetes (55.9%), type 2 diabetes (7.4%), prehypertension (46.8%), and hypertension (16.2%). The majority of participants rated their health as good to excellent (72.1%) and, as a whole, described their overall quality of life as high (7.9/10). Conclusion Collaborative efforts such as the SPS Biobank are critical for ensuring that underrepresented minority populations are included in

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

NASA Astrophysics Data System (ADS)

Daros Gama, Leandro; Bagdonas Henrique, Alexandre

2010-07-01

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

Trayectoria de los tornillos pediculares lumbares y sacros: Comparación entre el abordaje por linea media versus el abordaje posterolateral tipo wiltse

PubMed Central

Gagliardi, Martín; Guiroy, Alfredo; Molina, Federico Fernández; Fasano, Francisco; Ciancio, Alejandro Morales; Mezzadri, Juan José; Jalón, Pablo

2017-01-01

Resumen Objetivos: El objetivo de este estudio fue comparar, en fusiones lumbosacras cortas, el ángulo de convergencia de los tornillos pediculares entre el abordaje posterolateral tipo Wiltse y el abordaje mediano convencional. Método: Se revisaron en forma retrospectiva los controles en tomografía axial computada (TAC) de 76 tornillos pediculares lumbares y sacros colocados por vía posterior, mediante un abordaje mediano convencional (n: 38) o por vía posterolateral transmuscular tipo Wiltse (n: 38). Se incluyeron fusiones lumbosacras cortas desde L3 a S1, en pacientes adultos, con patología degenerativa. Se excluyeron los tornillos con una brecha ósea >4 mm en cualquier dirección, los casos con instrumentaciones pediculares previas y aquellos con curvas en el plano coronal mayores de 20°. Resultados: Considerando la totalidad de los implantes, el ángulo de convergencia fue de 23,3° (+/- 15,82). La angulación promedio, en el grupo AW, fue de 29,3° (+/- 9,72). En el grupo AC, el grado de convergencia de los implantes fue de 17,2° (+/- 10,58). Esta diferencia fue estadísticamente significativa (P < 0,0001). Para el grupo AW, el grado de convergencia según nivel fue el siguiente: L3: 31,2° (+/- 1,9); L4: 31,4° (+/- 2,76); L5: 31,1° (+/- 5,62); S1: 24,2° (+/- 12,16). El promedio del ángulo del tornillo según nivel para el grupo AC fue: L3: 16° (+/- 7,16); L4: 20,3° (+/- 6,9) L5: 15,9° (+/- 13,38); S1: 15,2° (+/- 14,32). Los implantes del grupo AW tuvieron ángulos significativamente más convergentes que el grupo AC en todos los segmentos explorados. Conclusión: En las fusiones lumbosacras cortas, la utilización del abordaje tipo Wiltse permitió la colocación de tornillos pediculares con más convergencia que en el abordaje mediano convencional. La relevancia clínica de este hecho es desconocida y se requerirían trabajos prospectivos randomizados para determinar la misma. PMID:29142777

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

PubMed Central

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

2010-01-01

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

[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.

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

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.

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.

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.

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.

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.

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.

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.

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

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

Results of Mujeres Felices por ser Saludables: a dietary/breast health randomized clinical trial for Latino women.

PubMed

Fitzgibbon, Marian L; Gapstur, Susan M; Knight, Sara J

2004-10-01

Data are limited on the efficacy of health-focused interventions for young, low-acculturated Latino women. Because breast cancer is the most commonly diagnosed cancer and the most common cause of cancer mortality in this population, combined interventions that address both early detection and dietary patterns could help reduce both morbidity and mortality associated with breast cancer in this underserved population. Mujeres Felices por ser Saludables was randomized intervention study designed to assess the efficacy of an 8-month combined dietary and breast health intervention to reduce fat and increase fiber intake as well as to increase the frequency and proficiency of breast self-examination (BSE) and reduce anxiety related to BSE among Latinas. Blocked randomization in blocks of 6 was used to randomize 256 20- to 40-year-old Latinas to the intervention (n = 127) or control group (n = 129). The intervention group attended an 8-month multicomponent education program designed specifically for low-acculturated Latinas. The control group received mailed health education material on a schedule comparable to the intervention. A total of 195 women (76.2%) completed both the baseline and 8-month follow-up interviews. The intervention and control groups were similar on baseline sociodemographic characteristics. At the 8-month follow up, the intervention group reported lower dietary fat (P < .001) and higher fiber intake (p = .06); a higher proportion reported practicing BSE at the recommended interval (p < .001) and showed improved BSE proficiency (p < .001) compared to the control group. BSE-related anxiety was low for both groups at baseline, and no difference in reduction was observed. This project provides a successful model for achieving dietary change and improving breast health behavior in young, low-acculturated Latinas.

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

NASA Astrophysics Data System (ADS)

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

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

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

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.

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.

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.

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.

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.

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

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

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.

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

[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.

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

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

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.

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.

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.

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.

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

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

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

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.

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.

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.

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.

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.

Contaminación por mercurio de leche materna de madres lactantes de municipios de Antioquia con explotación minera de oro.

PubMed

Molina, Carlos Federico; Arango, Catalina María; Sepúlveda, Hernán

2018-05-01

Introducción. La leche materna es esencial para el desarrollo del ser humano, pero puede contener sustancias tóxicas provenientes de la contaminación ambiental, especialmente en las áreas mineras.Objetivo. Determinar la prevalencia de la contaminación con mercurio de la leche materna de mujeres lactantes residentes en los municipios con explotación minera de oro.Materiales y métodos. Se hizo un estudio transversal de 150 madres lactantes de cuatro municipios mineros de Antioquia (El Bagre, Segovia, Remedios y Zaragoza), a quienes se les hizo una encuesta sobre factores sociodemográficos, ocupacionales y ambientales relacionados con el mercurio, y se les tomaron muestras de leche materna, de orina y de cabello. Se calculó el promedio de la concentración de mercurio y las prevalencias municipales de contaminación.Resultados. El promedio de la concentración de mercurio en la leche materna fue de 2,5 (± desviación estándar 9,2) μg/L. La prevalencia de muestras de leche materna con niveles altos de mercurio fue de 11,7 %.Conclusión. En este estudio se evidencia un grave problema en las regiones mineras auríferas de Antioquia por el efecto de la contaminación con mercurio en sectores de la población más vulnerable.

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

PubMed Central

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

2014-01-01

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

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.

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.

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

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.

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.

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

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.

[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.

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

[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.

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

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.

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

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.

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

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

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

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

A protein secretion system linked to bacteroidete gliding motility and pathogenesis

PubMed Central

Sato, Keiko; Naito, Mariko; Yukitake, Hideharu; Hirakawa, Hideki; Shoji, Mikio; McBride, Mark J.; Rhodes, Ryan G.; Nakayama, Koji

2009-01-01

Porphyromonas gingivalis secretes strong proteases called gingipains that are implicated in periodontal pathogenesis. Protein secretion systems common to other Gram-negative bacteria are lacking in P. gingivalis, but several proteins, including PorT, have been linked to gingipain secretion. Comparative genome analysis and genetic experiments revealed 11 additional proteins involved in gingipain secretion. Six of these (PorK, PorL, PorM, PorN, PorW, and Sov) were similar in sequence to Flavobacterium johnsoniae gliding motility proteins, and two others (PorX and PorY) were putative two-component system regulatory proteins. Real-time RT-PCR analysis revealed that porK, porL, porM, porN, porP, porT, and sov were down-regulated in P. gingivalis porX and porY mutants. Disruption of the F. johnsoniae porT ortholog resulted in defects in motility, chitinase secretion, and translocation of a gliding motility protein, SprB adhesin, to the cell surface, providing a link between a unique protein translocation system and a motility apparatus in members of the Bacteroidetes phylum. PMID:19966289

Differential Regulation of Duplicate Light-Dependent Protochlorophyllide Oxidoreductases in the Diatom Phaeodactylum tricornutum

PubMed Central

Hunsperger, Heather M.; Cattolico, Rose Ann

2016-01-01

Background Diatoms (Bacilliariophyceae) encode two light-dependent protochlorophyllide oxidoreductases (POR1 and POR2) that catalyze the penultimate step of chlorophyll biosynthesis in the light. Algae live in dynamic environments whose changing light levels induce photoacclimative metabolic shifts, including altered cellular chlorophyll levels. We hypothesized that the two POR proteins may be differentially adaptive under varying light conditions. Using the diatom Phaeodactylum tricornutum as a test system, differences in POR protein abundance and por gene expression were examined when this organism was grown on an alternating light:dark cycles at different irradiances; exposed to continuous light; and challenged by a significant decrease in light availability. Results For cultures maintained on a 12h light: 12h dark photoperiod at 200μE m−2 s−1 (200L/D), both por genes were up-regulated during the light and down-regulated in the dark, though por1 transcript abundance rose and fell earlier than that of por2. Little concordance occurred between por1 mRNA and POR1 protein abundance. In contrast, por2 mRNA and POR2 protein abundances followed similar diurnal patterns. When 200L/D P. tricornutum cultures were transferred to continuous light (200L/L), the diurnal regulatory pattern of por1 mRNA abundance but not of por2 was disrupted, and POR1 but not POR2 protein abundance dropped steeply. Under 1200μE m−2 s−1 (1200L/D), both por1 mRNA and POR1 protein abundance displayed diurnal oscillations. A compromised diel por2 mRNA response under 1200L/D did not impact the oscillation in POR2 abundance. When cells grown at 1200L/D were then shifted to 50μE m−2 s−1 (50L/D), por1 and por2 mRNA levels decreased swiftly but briefly upon light reduction. Thereafter, POR1 but not POR2 protein levels rose significantly in response to this light stepdown. Conclusion Given the sensitivity of diatom por1/POR1 to real-time light cues and adherence of por2/POR2 regulation to

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.

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

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.

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

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

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.

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.

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.

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

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.

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

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.

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.

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.

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

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.

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

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.

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

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.

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.

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

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.

[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.

Population pharmacokinetic approach to evaluate the effect of CYP2D6, CYP3A, ABCB1, POR and NR1I2 genotypes on donepezil clearance

PubMed Central

Noetzli, Muriel; Guidi, Monia; Ebbing, Karsten; Eyer, Stephan; Wilhelm, Laurence; Michon, Agnès; Thomazic, Valérie; Stancu, Ioana; Alnawaqil, Abdel-Messieh; Bula, Christophe; Zumbach, Serge; Gaillard, Michel; Giannakopoulos, Panteleimon; von Gunten, Armin; Csajka, Chantal; Eap, Chin B

2014-01-01

Aims A large interindividual variability in plasma concentrations has been reported in patients treated with donepezil, the most frequently prescribed antidementia drug. We aimed to evaluate clinical and genetic factors influencing donepezil disposition in a patient population recruited from a naturalistic setting. Methods A population pharmacokinetic study was performed including data from 129 older patients treated with donepezil. The patients were genotyped for common polymorphisms in the metabolic enzymes CYP2D6 and CYP3A, in the electron transferring protein POR and the nuclear factor NR1I2 involved in CYP activity and expression, and in the drug transporter ABCB1. Results The average donepezil clearance was 7.3 l h−1 with a 30% interindividual variability. Gender markedly influenced donepezil clearance (P < 0.01). Functional alleles of CYP2D6 were identified as unique significant genetic covariate for donepezil clearance (P < 0.01), with poor metabolizers and ultrarapid metabolizers demonstrating, respectively, a 32% slower and a 67% faster donepezil elimination compared with extensive metabolizers. Conclusion The pharmacokinetic parameters of donepezil were well described by the developed population model. Functional alleles of CYP2D6 significantly contributed to the variability in donepezil disposition in the patient population and should be further investigated in the context of individual dose optimization to improve clinical outcome and tolerability of the treatment. PMID:24433464

Population pharmacokinetic approach to evaluate the effect of CYP2D6, CYP3A, ABCB1, POR and NR1I2 genotypes on donepezil clearance.

PubMed

Noetzli, Muriel; Guidi, Monia; Ebbing, Karsten; Eyer, Stephan; Wilhelm, Laurence; Michon, Agnès; Thomazic, Valérie; Stancu, Ioana; Alnawaqil, Abdel-Messieh; Bula, Christophe; Zumbach, Serge; Gaillard, Michel; Giannakopoulos, Panteleimon; von Gunten, Armin; Csajka, Chantal; Eap, Chin B

2014-07-01

A large interindividual variability in plasma concentrations has been reported in patients treated with donepezil, the most frequently prescribed antidementia drug. We aimed to evaluate clinical and genetic factors influencing donepezil disposition in a patient population recruited from a naturalistic setting. A population pharmacokinetic study was performed including data from 129 older patients treated with donepezil. The patients were genotyped for common polymorphisms in the metabolic enzymes CYP2D6 and CYP3A, in the electron transferring protein POR and the nuclear factor NR1I2 involved in CYP activity and expression, and in the drug transporter ABCB1. The average donepezil clearance was 7.3 l h(-1) with a 30% interindividual variability. Gender markedly influenced donepezil clearance (P < 0.01). Functional alleles of CYP2D6 were identified as unique significant genetic covariate for donepezil clearance (P < 0.01), with poor metabolizers and ultrarapid metabolizers demonstrating, respectively, a 32% slower and a 67% faster donepezil elimination compared with extensive metabolizers. The pharmacokinetic parameters of donepezil were well described by the developed population model. Functional alleles of CYP2D6 significantly contributed to the variability in donepezil disposition in the patient population and should be further investigated in the context of individual dose optimization to improve clinical outcome and tolerability of the treatment. © 2014 The British Pharmacological Society.

Differential regulation of duplicate light-dependent protochlorophyllide oxidoreductases in the diatom Phaeodactylum tricornutum

DOE PAGES

Hunsperger, Heather M.; Ford, Christopher J.; Miller, James S.; ...

2016-07-01

Diatoms (Bacilliariophyceae) encode two light-dependent protochlorophyllide oxidoreductases (POR1 and POR2) that catalyze the penultimate step of chlorophyll biosynthesis in the light. Algae live in dynamic environments whose changing light levels induce photoacclimative metabolic shifts, including altered cellular chlorophyll levels. We hypothesized that the two POR proteins may be differentially adaptive under varying light conditions. Using the diatom Phaeodactylum tricornutum as a test system, differences in POR protein abundance and por gene expression were examined when this organism was grown on an alternating light:dark cycles at different irradiances; exposed to continuous light; and challenged by a significant decrease in light availability.more » As a result, for cultures maintained on a 12h light: 12h dark photoperiod at 200μEm –2 s –1 ( 200L/D), both por genes were up-regulated during the light and down-regulated in the dark, though por1 transcript abundance rose and fell earlier than that of por2. Little concordance occurred between por1 mRNA and POR1 protein abundance. In contrast, por2 mRNA and POR2 protein abundances followed similar diurnal patterns. When 200L/D P. tricornutum cultures were transferred to continuous light ( 200L/L), the diurnal regulatory pattern of por1 mRNA abundance but not of por2 was disrupted, and POR1 but not POR2 protein abundance dropped steeply. Under 1200μEm –2 s –1 ( 1200L/D), both por1 mRNA and POR1 protein abundance displayed diurnal oscillations. A compromised diel por2 mRNA response under 1200L/D did not impact the oscillation in POR2 abundance. When cells grown at 1200L/D were then shifted to 50μEm –2 s –1 (50L/D), por1 and por2 mRNA levels decreased swiftly but briefly upon light reduction. Thereafter, POR1 but not POR2 protein levels rose significantly in response to this light stepdown.« less

A study on the stability of O{sub 2} on oxometalloporphyrins by the first principles calculations

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

Kubota, Yoshiyuki; Escano, Mary Clare Sison; Dy, Eben Sy

2007-05-21

The authors investigated the interaction of oxometalloporphyrins (MO(por))--specifically, MoO(por), WO(por), TiO(por), VO(por), and CrO(por)--with O{sub 2} by using first principles calculations. MoO(por) and WO(por) undergo reactions with O{sub 2}; on the other hand, TiO(por), VO(por), and CrO(por) do not. Next, they compared the interaction of MoO(por) and WO(por) with O{sub 2}. Activation barriers for the reactions of MoO(por) and WO(por) with a side-on O{sub 2} are small. For MoO(por)(O{sub 2}), the activation barrier for the reverse reaction that liberates O{sub 2} is also small; however, that for WO(por)(O{sub 2}) is large. The experimental results that photoirradiation with visible light ormore » heating of Mo {sup VI}O(tmp)(O{sub 2}) regenerates Mo {sup VI}O(tmp) by liberating O{sub 2} while W {sup VI}O(tmp)(O{sub 2}) does not [J. Tachibana, T. Imamura, and Y. Sasaki, Bull. Chem. Soc. Jpn. 71, 363 (1998)] are explained by the difference in activation barriers of the reverse reactions. This means that bonds formed between the W atom and O{sub 2} are stronger than those between the Mo atom and O{sub 2}. The bond strengths can be explained by differences in the energy levels between the highest occupied molecular orbital of MoO(por) and WO(por), which are mainly formed from the a orbitals of the central metal atom and {pi}{sup *} orbitals of O{sub 2}.« less

Type IX secretion: the generation of bacterial cell surface coatings involved in virulence, gliding motility and the degradation of complex biopolymers.

PubMed

Veith, Paul D; Glew, Michelle D; Gorasia, Dhana G; Reynolds, Eric C

2017-10-01

The Type IX secretion system (T9SS) is present in over 1000 sequenced species/strains of the Fibrobacteres-Chlorobi-Bacteroidetes superphylum. Proteins secreted by the T9SS have an N-terminal signal peptide for translocation across the inner membrane via the SEC translocon and a C-terminal signal for secretion across the outer membrane via the T9SS. Nineteen protein components of the T9SS have been identified including three, SigP, PorX and PorY that are involved in regulation. The inner membrane proteins PorL and PorM and the outer membrane proteins PorK and PorN interact and a complex comprising PorK and PorN forms a large ring structure of 50 nm in diameter. PorU, PorV, PorQ and PorZ form an attachment complex on the cell surface of the oral pathogen, Porphyromonas gingivalis. P. gingivalis T9SS substrates bind to PorV suggesting that after translocation PorV functions as a shuttle protein to deliver T9SS substrates to the attachment complex. The PorU component of the attachment complex is a novel Gram negative sortase which catalyses the cleavage of the C-terminal signal and conjugation of the protein substrates to lipopolysaccharide, anchoring them to the cell surface. This review presents an overview of the T9SS focusing on the function of T9SS substrates and machinery components. © 2017 John Wiley & Sons Ltd.

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.

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

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.

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

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

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

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.

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.

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.

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.

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.

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.

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.

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

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.

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.

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.

[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.

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.

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.

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.

The effect of β-saturated pyrrolic rings on the electronic structures and aromaticity of magnesium porphyrin derivatives: a density functional study.

PubMed

Wan, Liang; Qi, Dongdong; Zhang, Yuexing

2011-09-01

Density functional theory (DFT) calculation on the molecular structures, molecular orbitals, electronic absorption spectra, and magnetic properties of magnesium porphyrin (MgPor) and a series of five hydrogenated magnesium porphyrin complexes with different number of β-saturated pyrrolic rings, namely MgPor-β-1Hy, MgPor-β-opp-2Hy, MgPor-β-adj-2Hy, MgPor-β-3Hy, and MgPor-β-4Hy, clarifies the red-shift of the lowest energy absorption band from chlorophyll a to bacteriochlorophyll and reveals the strong chemical stability for both of them. The energy levels of highest occupied molecular orbitals (HOMO) and HOMO-1 for MgPor are reversed upon hydrogenation at β-positions (2 and 3, 7 and 8, 12 and 13, and 17 and 18) of porphyrin ring. Along with the increase of β-saturated pyrrolic rings from 1, 2, 3, to 4, the HOMO energy increases from -4.78 eV to -3.10 eV in a regular manner. In contrast, the lowest unoccupied molecular orbitals (LUMO) energy levels of MgPor, MgPor-β-1Hy, and MgPor-β-opp-2Hy are very similar with each other. As a result, the lowest energy absorption band involving main transition from HOMO to LUMO is red-shifted from MgPor-β-1Hy to MgPor-β-opp-2Hy which is representative of chlorophyll a and bacteriochlorophyll, respectively. Natural hydroporphyrins represented by MgPor, MgPor-β-1Hy, and MgPor-β-opp-2Hy have turned out to be aromatic and stable enough, in good accordance with the ubiquity of their derivatives in the nature. In contrast, MgPor-β-adj-2Hy, MgPor-β-3Hy, and MgPor-β-4Hy with relatively weak aromaticity seem to be unstable and therefore were not found in nature. Copyright © 2011 Elsevier Inc. All rights reserved.

Legal Knowledge as a Tool for Social Change: La Mesa por la Vida y la Salud de las Mujeres as an Expert on Colombian Abortion Law.

PubMed

González Vélez, Ana Cristina; Jaramillo, Isabel Cristina

2017-06-01

In May 2006, Colombia's Constitutional Court liberalized abortion, introducing three circumstances under which the procedure would not be considered a crime: (1) rape or incest; (2) a risk to the woman's health or life; and (3) fetal malformations incompatible with life. Immediately following the court's ruling, known as Sentence C-355, members of La Mesa por la Vida y Salud de las Mujeres (hereinafter La Mesa) began to mobilize to ensure the decision's implementation, bearing in mind the limited impact that the legal framework endorsed by the court has had in other countries in the region. We argue that La Mesa's strategy is an innovative one in the field of legal mobilization insofar as it presumes that law can be shaped not just by public officials and universities but also by social actors engaged in the creation and diffusion of legal knowledge. In this regard, La Mesa has become a legal expert on abortion by accumulating knowledge about the multiple legal rules affecting the practice of abortion and about the situations in which these rules are to be applied. In addition, by becoming a legal expert, La Mesa has been able to persuade health providers that they will not risk criminal prosecution or being fired if they perform abortions. We call this effect of legal mobilization a "pedagogical effect" insofar as it involves the production of expertise and appropriation of knowledge by health professionals. We conclude by discussing La Mesa's choice to become a legal expert on abortion as opposed to recruiting academics to do this work or encouraging women to produce and disseminate this knowledge.

Effect of P450 Oxidoreductase Polymorphisms on the Metabolic Activities of Ten Cytochrome P450s Varied by Polymorphic CYP Genotypes in Human Liver Microsomes.

PubMed

Fang, Yan; Gao, Na; Tian, Xin; Zhou, Jun; Zhang, Hai-Feng; Gao, Jie; He, Xiao-Pei; Wen, Qiang; Jia, Lin-Jing; Jin, Han; Qiao, Hai-Ling

2018-06-27

Background/ Aims: Little is known about the effect of P450 oxidoreductase (POR) gene polymorphisms on the activities of CYPs with multiple genotypes. We genotyped 102 human livers for 18 known POR single nucleotide polymorphisms (SNPs) with allelic frequencies greater than 1% as well as for 27 known SNPs in 10 CYPs. CYP enzyme activities in microsomes prepared from these livers were determined by measuring probe substrate metabolism by high performance liquid chromatograph. We found that the effects of the 18 POR SNPs on 10 CYP activities were CYP genotype-dependent. The POR mutations were significantly associated with decreased overall Km for CYP2B6 and 2E1, and specific genotypes within CYP1A2, 2A6, 2B6, 2C8, 2D6 and 2E1 were identified as being affected by these POR SNPs. Notably, the effect of a specific POR mutation on the activity of a CYP genotype could not be predicted from other CYP genotypes of even the same CYP. When combining one POR SNP with other POR SNPs, a hitherto unrecognized effect of multiple-site POR gene polymorphisms (MSGP) on CYP activity was uncovered, which was not necessarily consistent with the effect of either single POR SNP. The effects of POR SNPs on CYP activities were not only CYP-dependent, but more importantly, CYP genotype-dependent. Moreover, the effect of a POR SNP alone and in combination with other POR SNPs (MSGP) was not always consistent, nor predictable. Understanding the impact of POR gene polymorphisms on drug metabolism necessitates knowing the complete SNP complement of POR and the genotype of the relevant CYPs. © 2018 The Author(s). Published by S. Karger AG, Basel.

Evaluating Por Nuestra Salud: A Feasibility Study.

PubMed

Marshall, Brenda; Gonzales, Gustavo; Kernan, William

2016-01-01

This feasibility study evaluated the impact of a culturally consistent diabetes educational program, led by a Latino pastor, on Latino community diabetes knowledge levels. Latino adults were recruited from two churches serving Latino populations, one identified as intervention, the other as nonintervention. Both churches received the American Diabetes Association's booklets on diabetes education, "Four Steps to Control Your Diabetes for Life." The intervention group also received weekly reviews of the booklet's information from the church pastor, who was educated about diabetes by a Latino family nurse practitioner. Pre- and postintervention levels of diabetes knowledge were measured using the Diabetes Knowledge Questionnaire. Mean changes in the Diabetes Knowledge Questionnaire (DKQ-24) survey from pretest to posttest indicated a significant increase in knowledge in both groups. Only the grades for the participants from the pastor-led group, however, moved from failure in knowledge to high levels of passing. One hundred percent of intervention group participants reported having read the literature. This pilot study supports the feasibility of a local Latino pastor, as a culturally consistent diabetes educator, to increase Latino parishioner's knowledge of diabetes. © 2015 Society for Public Health Education.

Heterologous expression of equine CYP3A94 and investigation of a tunable system to regulate co-expressed NADPH P450 oxidoreductase levels.

PubMed

Dettwiler, Ramona; Schmitz, Andrea L; Plattet, Philippe; Zielinski, Jana; Mevissen, Meike

2014-01-01

The activity of cytochrome P450 enzymes depends on the enzyme NADPH P450 oxidoreductase (POR). The aim of this study was to investigate the activity of the equine CYP3A94 using a system that allows to regulate the POR protein levels in mammalian cells. CYP3A94 and the equine POR were heterologously expressed in V79 cells. In the system used, the POR protein regulation is based on a destabilizing domain (DD) that transfers its instability to a fused protein. The resulting fusion protein is therefore degraded by the ubiquitin-proteasome system (UPS). Addition of "Shield-1" prevents the DD fusion protein from degradation. The change of POR levels at different Shield-1 concentrations was demonstrated by cytochrome c reduction, Western immunoblot analysis, and immunocytochemistry. The alteration of CYP3A94 activity was investigated using a substrate (BFC) known to detect CYP3A4 activity. Equine CYP3A94 was demonstrated to be metabolically active and its activity could be significantly elevated by co-expression of POR. Cytochrome c reduction was significantly increased in V79-CYP3A94/DD-POR cells compared to V79-CYP3A94 cells. Surprisingly, incubation with different Shield-1 concentrations resulted in a decrease in POR protein shown by Western immunoblot analysis. Cytochrome c reduction did not change significantly, but the CYP3A94 activity decreased more than 4-fold after incubation with 500 nM and 1 µM Shield-1 for 24 hours. No differences were obtained when V79-CYP3A94 POR cells with and without Shield-1 were compared. The basal activity levels of V79-CYP3A94/DD-POR cells were unexpectedly high, indicating that DD/POR is not degraded without Shield-1. Shield-1 decreased POR protein levels and CYP3A94 activity suggesting that Shield-1 might impair POR activity by an unknown mechanism. Although regulation of POR with the pPTuner system could not be obtained, the cell line V79-CYP3A94/DD-POR system can be used for further experiments to characterize the equine CYP3A94

Primary language and cultural background as factors in resident burnout in medical specialties: a study in a bilingual US city.

PubMed

Afzal, Khalid I; Khan, Farhan M; Mulla, Zuber; Akins, Ralista; Ledger, Elizabeth; Giordano, Frank L

2010-07-01

The aim of this study was to identify the degree of burnout among resident physicians enrolled in seven postgraduate training programs at Texas Tech University Health Sciences Center (TTUHSC), Paul L. Foster School of Medicine, El Paso, Texas, as it related to residents' age, gender, marital status, number of hours worked per week, primary language, race/ethnicity, and cultural background. : The Maslach Burnout Inventory Human Service Survey (MBI) was administered to measure the level of burnout according to the prevalence of emotional exhaustion (EE), depersonalization (DP), and reduced personal accomplishment (PA). : Eighty-one percent of the residents at TTUHSC participated in the study. Residents raised in the United States or Canada comprised 28% and 35% of the study, and all reported English as their primary language. The EE scale was significant for obstetrics/gynecology (OB/GYN) residents (prevalence odds ratio [POR] = 13.55, P = 0.02) and psychiatry (PSY) residents (POR = 6.50, P = 0.03). Emergency medicine (EM) residents (POR = 23.35, P = 0.002), OB/GYN (POR = 10.89, P = 0.02), and general surgery (GS) (POR = 6.24, P = 0.03) residents had high DP. Internal medicine (IM) residents (primarily Spanish-speaking) reported significantly low EE (POR = 0.22, P = 0.03) and PA (POR = 0.09, P = 0.001) scores. Residents from the United States or Canada who reported English as their primary language and noted their race as white, had high EE (POR = 3.06, P = 0.03; POR = 5.61, P = 0.0001; POR = 2.91, P = 0.004), DP (POR = 3.19, P = 0.02; POR = 8.34, P < or = 0.0001; POR = 4.70, P < or = 0.0001) and PA (POR = 2.61, P = 0.02; POR = 2.35, P = 0.05, POR 0.29, P = 0.3) scores. Using valid measures, this pilot study identified a statistically significant relationship between burnout and residents' race/ethnicity, primary language, and cultural background. Larger studies with similar focus would be necessary to generalize these findings. At-risk residents in bilingual

Reduction in hepatic drug metabolizing CYP3A4 activities caused by P450 oxidoreductase mutations identified in patients with disordered steroid metabolism

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

Flueck, Christa E.; Mullis, Primus E.; Pandey, Amit V., E-mail: amit@pandeylab.org

2010-10-08

Research highlights: {yields} Cytochrome P450 3A4 (CYP3A4), metabolizes 50% of drugs in clinical use and requires NADPH-P450 reductase (POR). {yields} Mutations in human POR cause congenital adrenal hyperplasia from diminished activities of steroid metabolizing P450s. {yields} We are reporting that mutations in POR may reduce CYP3A4 activity. {yields} POR mutants Y181D, A457H, Y459H, V492E and R616X lost 99%, while A287P, C569Y and V608F lost 60-85% CYP3A4 activity. {yields} Reduction of CYP3A4 activity may cause increased risk of drug toxicities/adverse drug reactions in patients with POR mutations. -- Abstract: Cytochrome P450 3A4 (CYP3A4), the major P450 present in human liver metabolizesmore » approximately half the drugs in clinical use and requires electrons supplied from NADPH through NADPH-P450 reductase (POR, CPR). Mutations in human POR cause a rare form of congenital adrenal hyperplasia from diminished activities of steroid metabolizing P450s. In this study we examined the effect of mutations in POR on CYP3A4 activity. We used purified preparations of wild type and mutant human POR and in vitro reconstitution with purified CYP3A4 to perform kinetic studies. We are reporting that mutations in POR identified in patients with disordered steroidogenesis/Antley-Bixler syndrome (ABS) may reduce CYP3A4 activity, potentially affecting drug metabolism in individuals carrying mutant POR alleles. POR mutants Y181D, A457H, Y459H, V492E and R616X had more than 99% loss of CYP3A4 activity, while POR mutations A287P, C569Y and V608F lost 60-85% activity. Loss of CYP3A4 activity may result in increased risk of drug toxicities and adverse drug reactions in patients with POR mutations.« less

Altered heme catabolism by heme oxygenase-1 caused by mutations in human NADPH cytochrome P450 reductase

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

Pandey, Amit V., E-mail: amit@pandeylab.org; Flueck, Christa E.; Mullis, Primus E.

2010-09-24

Research highlights: {yields} Mutations in POR identified from patients lead to reduced HO-1 activities. {yields} POR mutation Y181D affecting FMN binding results in total loss of HO-1 activity. {yields} POR mutations A287P, C569Y and V608F, lost 50-70% activity. {yields} Mutations in FAD binding domain, R457H, Y459H and V492E lost all HO-1 activity. {yields} POR polymorphisms P228L, R316W, G413S, A503V and G504R have normal activity. -- Abstract: Human heme oxygenase-1 (HO-1) carries out heme catabolism supported by electrons supplied from the NADPH through NADPH P450 reductase (POR, CPR). Previously we have shown that mutations in human POR cause a rare formmore » of congenital adrenal hyperplasia. In this study, we have evaluated the effects of mutations in POR on HO-1 activity. We used purified preparations of wild type and mutant human POR and in vitro reconstitution with purified HO-1 to measure heme degradation in a coupled assay using biliverdin reductase. Here we show that mutations in POR found in patients may reduce HO-1 activity, potentially influencing heme catabolism in individuals carrying mutant POR alleles. POR mutants Y181D, A457H, Y459H, V492E and R616X had total loss of HO-1 activity, while POR mutations A287P, C569Y and V608F lost 50-70% activity. The POR variants P228L, R316W and G413S, A503V and G504R identified as polymorphs had close to WT activity. Loss of HO-1 activity may result in increased oxidative neurotoxicity, anemia, growth retardation and iron deposition. Further examination of patients affected with POR deficiency will be required to assess the metabolic effects of reduced HO-1 activity in affected individuals.« less

Heterologous Expression of Equine CYP3A94 and Investigation of a Tunable System to Regulate Co-Expressed NADPH P450 Oxidoreductase Levels

PubMed Central

Dettwiler, Ramona; Schmitz, Andrea L.; Plattet, Philippe; Zielinski, Jana; Mevissen, Meike

2014-01-01

The activity of cytochrome P450 enzymes depends on the enzyme NADPH P450 oxidoreductase (POR). The aim of this study was to investigate the activity of the equine CYP3A94 using a system that allows to regulate the POR protein levels in mammalian cells. CYP3A94 and the equine POR were heterologously expressed in V79 cells. In the system used, the POR protein regulation is based on a destabilizing domain (DD) that transfers its instability to a fused protein. The resulting fusion protein is therefore degraded by the ubiquitin-proteasome system (UPS). Addition of “Shield-1” prevents the DD fusion protein from degradation. The change of POR levels at different Shield-1 concentrations was demonstrated by cytochrome c reduction, Western immunoblot analysis, and immunocytochemistry. The alteration of CYP3A94 activity was investigated using a substrate (BFC) known to detect CYP3A4 activity. Equine CYP3A94 was demonstrated to be metabolically active and its activity could be significantly elevated by co-expression of POR. Cytochrome c reduction was significantly increased in V79-CYP3A94/DD-POR cells compared to V79-CYP3A94 cells. Surprisingly, incubation with different Shield-1 concentrations resulted in a decrease in POR protein shown by Western immunoblot analysis. Cytochrome c reduction did not change significantly, but the CYP3A94 activity decreased more than 4-fold after incubation with 500 nM and 1 µM Shield-1 for 24 hours. No differences were obtained when V79-CYP3A94 POR cells with and without Shield-1 were compared. The basal activity levels of V79-CYP3A94/DD-POR cells were unexpectedly high, indicating that DD/POR is not degraded without Shield-1. Shield-1 decreased POR protein levels and CYP3A94 activity suggesting that Shield-1 might impair POR activity by an unknown mechanism. Although regulation of POR with the pPTuner system could not be obtained, the cell line V79-CYP3A94/DD-POR system can be used for further experiments to characterize the equine CYP3A

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

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.

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.

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.

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

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

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.

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

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.

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.

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

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

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.

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.

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.

P450 oxidoreductase deficiency: a disorder of steroidogenesis with multiple clinical manifestations.

PubMed

Miller, Walter L

2012-10-23

Cytochrome P450 enzymes catalyze the biosynthesis of steroid hormones and metabolize drugs. There are seven human type I P450 enzymes in mitochondria and 50 type II enzymes in endoplasmic reticulum. Type II enzymes, including both drug-metabolizing and some steroidogenic enzymes, require electron donation from a two-flavin protein, P450 oxidoreductase (POR). Although knockout of the POR gene causes embryonic lethality in mice, we discovered human POR deficiency as a disorder of steroidogenesis associated with the Antley-Bixler skeletal malformation syndrome and found mild POR mutations in phenotypically normal adults with infertility. Assay results of mutant forms of POR using the traditional but nonphysiologic assay (reduction of cytochrome c) did not correlate with patient phenotypes; assays based on the 17,20 lyase activity of P450c17 (CYP17) correlated with clinical phenotypes. The POR sequence in 842 normal individuals revealed many polymorphisms; amino acid sequence variant A503V is encoded by ~28% of human alleles. POR A503V has about 60% of wild-type activity in assays with CYP17, CYP2D6, and CYP3A4, but nearly wild-type activity with P450c21, CYP1A2, and CYP2C19. Activity of a particular POR variant with one P450 enzyme will not predict its activity with another P450 enzyme: Each POR-P450 combination must be studied individually. Human POR transcription, initiated from an untranslated exon, is regulated by Smad3/4, thyroid receptors, and the transcription factor AP-2. A promoter polymorphism reduces transcription to 60% in liver cells and to 35% in adrenal cells. POR deficiency is a newly described disorder of steroidogenesis, and POR variants may account for some genetic variation in drug metabolism.

Patterns of coral disease across the Hawaiian Archipelago: Relating disease to environment

USGS Publications Warehouse

Aeby, G.S.; Williams, G.J.; Franklin, E.C.; Kenyon, J.; Cox, E.F.; Coles, S.; Work, Thierry M.

2011-01-01

In Hawaii, coral reefs occur across a gradient of biological (host abundance), climatic (sea surface temperature anomalies) and anthropogenic conditions from the human-impacted reefs of the main Hawaiian Islands (MHI) to the pristine reefs of the northwestern Hawaiian Islands (NWHI). Coral disease surveys were conducted at 142 sites from across the Archipelago and disease patterns examined. Twelve diseases were recorded from three coral genera (Porites, Montipora, Acropora) with Porites having the highest prevalence. Porites growth anomalies (PorGAs) were significantly more prevalent within and indicative of reefs in the MHI and Porites trematodiasis (PorTrm) was significantly more prevalent within and indicative of reefs in the NWHI. Porites tissue loss syndrome (PorTLS) was also important in driving regional differences but that relationship was less clear. These results highlight the importance of understanding disease ecology when interpreting patterns of disease occurrence. PorTrm is caused by a parasitic flatworm that utilizes multiple hosts during its life cycle (fish, mollusk and coral). All three hosts must be present for the disease to occur and higher host abundance leads to higher disease prevalence. Thus, a high prevalence of PorTrm on Hawaiian reefs would be an indicator of a healthy coral reef ecosystem. In contrast, the high occurrence of PorGAs within the MHI suggests that PorGAs are related, directly or indirectly, to some environmental co-factor associated with increased human population sizes. Focusing on the three indicator diseases (PorGAs, PorTrm, PorTLS) we used statistical modeling to examine the underlying associations between disease prevalence and 14 different predictor variables (biotic and abiotic). All three diseases showed positive associations with host abundance and negative associations with thermal stress. The association with human population density differed among disease states with PorGAs showing a positive and PorTrm showing

Patterns of Coral Disease across the Hawaiian Archipelago: Relating Disease to Environment

PubMed Central

Aeby, Greta S.; Williams, Gareth J.; Franklin, Erik C.; Kenyon, Jean; Cox, Evelyn F.; Coles, Steve; Work, Thierry M.

2011-01-01

In Hawaii, coral reefs occur across a gradient of biological (host abundance), climatic (sea surface temperature anomalies) and anthropogenic conditions from the human-impacted reefs of the main Hawaiian Islands (MHI) to the pristine reefs of the northwestern Hawaiian Islands (NWHI). Coral disease surveys were conducted at 142 sites from across the Archipelago and disease patterns examined. Twelve diseases were recorded from three coral genera (Porites, Montipora, Acropora) with Porites having the highest prevalence. Porites growth anomalies (PorGAs) were significantly more prevalent within and indicative of reefs in the MHI and Porites trematodiasis (PorTrm) was significantly more prevalent within and indicative of reefs in the NWHI. Porites tissue loss syndrome (PorTLS) was also important in driving regional differences but that relationship was less clear. These results highlight the importance of understanding disease ecology when interpreting patterns of disease occurrence. PorTrm is caused by a parasitic flatworm that utilizes multiple hosts during its life cycle (fish, mollusk and coral). All three hosts must be present for the disease to occur and higher host abundance leads to higher disease prevalence. Thus, a high prevalence of PorTrm on Hawaiian reefs would be an indicator of a healthy coral reef ecosystem. In contrast, the high occurrence of PorGAs within the MHI suggests that PorGAs are related, directly or indirectly, to some environmental co-factor associated with increased human population sizes. Focusing on the three indicator diseases (PorGAs, PorTrm, PorTLS) we used statistical modeling to examine the underlying associations between disease prevalence and 14 different predictor variables (biotic and abiotic). All three diseases showed positive associations with host abundance and negative associations with thermal stress. The association with human population density differed among disease states with PorGAs showing a positive and PorTrm showing

Evaluation of six nucleic acid amplification tests used for diagnosis of Neisseria gonorrhoeae in Russia compared with an international strictly validated real-time porA pseudogene polymerase chain reaction.

PubMed

Shipitsyna, E; Zolotoverkhaya, E; Hjelmevoll, S O; Maximova, A; Savicheva, A; Sokolovsky, E; Skogen, V; Domeika, M; Unemo, M

2009-11-01

In Russia, laboratory diagnosis of gonorrhoea has been mainly based on microscopy only and, in some settings, relatively rare suboptimal culturing. In recent years, Russian developed and manufactured nucleic acid amplification tests (NAAT) have been implemented for routine diagnosis of Neisseria gonorrhoeae. However, these NAATs have never been validated to any international well-recognized diagnostic NAAT. This study aims to evaluate the performance characteristics of six Russian NAATs for N. gonorrhoeae diagnostics. In total, 496 symptomatic patients were included. Five polymerase chain reaction (PCR) assays and one real-time nucleic acid sequence based amplification (NASBA) assay, developed by three Russian companies, were evaluated on urogenital samples, i.e. cervical and first voided urine (FVU) samples from females (n = 319), urethral and FVU samples from males (n = 127), and extragenital samples, i.e. rectal and pharyngeal samples, from 50 additional female patients with suspicion of gonorrhoea. As reference method, an international strictly validated real-time porA pseudogene PCR was applied. The prevalence of N. gonorrhoeae was 2.7% and 16% among the patients providing urogenital and extragenital samples, respectively. The Russian NAATs and the reference method displayed high level of concordance (99.4-100%). The sensitivities, specificities, positive predictive values and negative predictive values of the Russian tests in different specimens were 66.7-100%, 100%, 100%, and 99.4-100%, respectively. Russian N. gonorrhoeae diagnostic NAATs comprise relatively good performance characteristics. However, larger studies are crucial and, beneficially, the Russian assays should also be evaluated to other international highly sensitive and specific, and ideally Food and Drug Administration approved, NAATs such as Aptima Combo 2 (Gen-Probe).

Alerta De Insecto-Escarabajo asiatico de antenoas largas

Treesearch

Marco A. Fonseca; Ronald F. Billings

Hay probablemente una sola generacion de ALB por a'o. Los escarabajos adultos por lo general estan presentes de mayo a octubre, pero se pueden encontrar mas temprano en la primavera o mas tarde en el oto?o si las temperaturas son calidas. Los adultos por lo general permanecen en el arbol del que emergieron o se pueden desplazar por distancias cortas hacia un...

Geographical variation of overweight, obesity and related risk factors: Findings from the European Health Examination Survey in Luxembourg, 2013-2015.

PubMed

Samouda, Hanen; Ruiz-Castell, Maria; Bocquet, Valery; Kuemmerle, Andrea; Chioti, Anna; Dadoun, Frédéric; Kandala, Ngianga-Bakwin; Stranges, Saverio

2018-01-01

The analyses of geographic variations in the prevalence of major chronic conditions, such as overweight and obesity, are an important public health tool to identify "hot spots" and inform allocation of funding for policy and health promotion campaigns, yet rarely performed. Here we aimed at exploring, for the first time in Luxembourg, potential geographic patterns in overweight/obesity prevalence in the country, adjusted for several demographic, socioeconomic, behavioural and health status characteristics. Data came from 720 men and 764 women, 25-64 years old, who participated in the European Health Examination Survey in Luxembourg (2013-2015). To investigate the geographical variation, geo-additive semi-parametric mixed model and Bayesian modelisations based on Markov Chain Monte Carlo techniques for inference were performed. Large disparities in the prevalence of overweight and obesity were found between municipalities, with the highest rates of obesity found in 3 municipalities located in the South-West of the country. Bayesian approach also underlined a nonlinear effect of age on overweight and obesity in both genders (significant in men) and highlighted the following risk factors: 1. country of birth for overweight in men born in a non-European country (Posterior Odds Ratio (POR): 3.24 [1.61-8.69]) and women born in Portugal (POR: 2.44 [1.25-4.43]), 2. low educational level (secondary or below) for overweight (POR: 1.66 (1.06-2.72)] and obesity (POR:2.09 [1.05-3.65]) in men, 3. single marital status for obesity in women (POR: 2.20 [1.24-3.91]), 4.fair (men: POR: 3.19 [1.58-6.79], women: POR: 2.24 [1.33-3.73]) to very bad health perception (men: POR: 15.01 [2.16-98.09]) for obesity, 5. sleeping more than 6 hours for obesity in unemployed men (POR: 3.66 [2.02-8.03]). Protective factors highlighted were: 1. single marital status against overweight (POR: [0.60 (0.38-0.96)]) and obesity (POR: 0.39 [0.16-0.84]) in men, 2. the fact to be widowed against overweight in

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

NASA Astrophysics Data System (ADS)

Iria Machado, Daniel; dos Santos, Carlos

2011-07-01

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

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

PubMed Central

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

2015-01-01

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

Risk factors associated with human Rift Valley fever infection: systematic review and meta-analysis.

PubMed

Nicholas, Dennis E; Jacobsen, Kathryn H; Waters, Nigel M

2014-12-01

To identify risk factors for human Rift Valley fever virus (RVFV) infection. A systematic review identified 17 articles reporting on 16 studies examining risk factors for RVFV. Pooled odds ratios (pOR) were calculated for exposures examined in four or more studies. Being male [pOR = 1.4 (1.0, 1.8)], contact with aborted animal tissue [pOR = 3.4 (1.6, 7.3)], birthing an animal [pOR = 3.2 (2.4, 4.2)], skinning an animal [pOR = 2.5 (1.9, 3.2)], slaughtering an animal [pOR = 2.4 (1.4, 4.1)] and drinking raw milk [pOR = 1.8 (1.2, 2.6)] were significantly associated with RVF infection after meta-analysis. Other potential risk factors include sheltering animals in the home and milking an animal, which may both involve contact with animal body fluids. Based on the identified risk factors, use of personal protective equipment and disinfectants by animal handlers may help reduce RVFV transmission during outbreaks. Milk pasteurisation and other possible preventive methods require further investigation. © 2014 John Wiley & Sons Ltd.

Camina por Salud: Walking in Mexican-American Women

PubMed Central

Keller, Colleen S.; Gonzales, Adelita

2008-01-01

Forty-six percent of older Mexican-American women report no leisure time physical activity (PA); 38.1% are obese. This study (1) evaluated a PA intervention on reduction of risk for coronary heart disease (CHD) and (2) determined which variables affected adherence to PA. For 36 weeks, Group I walked 3 days/week; Group II walked 5 days/week. The investigators measured total body fat, regional fat, blood lipids, and adherence to PA The walking interventions favorably affected body fat, with significant differences in body mass index (BMI) reductions[F (2, 16) = 12.86, p = .001]. No statistical differences were noted in the anthropometric and blood lipid results from baseline to the 36-week measures. PMID:18457751

Desigualdad social y tendencias de mortalidad por diabetes.

PubMed

Medina-Gómez, Oswaldo; Medina-Reyes, E Ismael Seth

2017-01-01

To identify the trend of national diabetes mortality by level of marginality at the state and municipal levels. A descriptive study was conducted with records of deaths from diabetes in over 20 years from 1990 to 2013. The national mortality rate was calculated standardized by age according to the 2000 world population and the state level 2013 saw the projected naational population by join point analysis for trend analysis was performed. For the general population, the annual percentage change between 1990 and 1996 was 2.2, from 1996 to 2005 was 4.3, and from 2005 to 2013 was 0.1. The largest increase among women occurred between 1998 and 2005 while among men occurred between 1995 and 2006. At the state level was found higher annual percentage change between the towns with the highest degree of marginalization. The mortality of diabetes in women shows a significant decrease since 2004, among men, the mortality with a continuous upward trend, consistent with the trend that the disease has had in recent years. Copyright: © 2017 SecretarÍa de Salud

Disaster-related exposures and health effects among US Coast Guard responders to Hurricanes Katrina and Rita: a cross-sectional study.

PubMed

Rusiecki, Jennifer A; Thomas, Dana L; Chen, Ligong; Funk, Renée; McKibben, Jodi; Dayton, Melburn R

2014-08-01

Disaster responders work among poorly characterized physical and psychological hazards with little understood regarding health consequences of their work. A survey administered to 2834 US Coast Guard responders to Hurricanes Katrina and Rita provided data on exposures and health effects. Prevalence odds ratios (PORs) evaluated associations between baseline characteristics, missions, exposures, and health effects. Most frequent exposures were animal/insect vector (n = 1309; 46%) and floodwater (n = 817; 29%). Most frequent health effects were sunburn (n = 1119; 39%) and heat stress (n = 810; 30%). Significant positive associations were for mold exposure and sinus infection (POR = 10.39); carbon monoxide and confusion (POR = 6.27); lack of sleep and slips, trips, falls (POR = 3.34) and depression (POR = 3.01); being a Gulf-state responder and depression (POR = 3.22). Increasing protection for disaster responders requires provisions for adequate sleep, personal protective equipment, and access to medical and psychological support.

Making the invisible visible: improved electrospray ion formation of metalloporphyrins/-phthalocyanines by attachment of the formate anion (HCOO(-)).

PubMed

Hitzenberger, Jakob Felix; Dammann, Claudia; Lang, Nina; Lungerich, Dominik; García-Iglesias, Miguel; Bottari, Giovanni; Torres, Tomás; Jux, Norbert; Drewello, Thomas

2016-02-21

A protocol is developed for the coordination of the formate anion (HCOO(-)) to neutral metalloporphyrins (Pors) and -phthalocyanines (Pcs) containing divalent metals as a means to improve their ion formation in electrospray ionization (ESI). This method is particularly useful when the oxidation of the neutral metallomacrocycle fails. While focusing on Zn(II)Pors and Zn(II)Pcs, we show that formate is also readily attached to Mn(II), Mg(II) and Co(II)Pcs. However, for the Co(II)Pc secondary reactions can be observed. Upon collision-induced dissociation (CID), Zn(II)Por/Pc·formate supramolecular complexes can undergo the loss of CO2 in combination with transfer of a hydride anion (H(-)) to the zinc metal center. Further dissociation leads to electron transfer and hydrogen atom loss, generating a route to the radical anion of the Zn(II)Por/Pc without the need for electrochemical reduction, although the Zn(II)Por/Pc may have a too low electron affinity to allow electron transfer directly from the formate anion. In addition to single Por molecules, multi Por arrays were successfully analyzed by this method. In this case, multiple addition of formate occurs, giving rise to multiply charged species. In these multi Por arrays, complexation of the formate anion occurs by two surrounding Por units (sandwich). Therefore, the maximum attainment of formate anions in these arrays corresponds to the number of such sandwich complexes rather than the number of porphyrin moieties. The same bonding motif leads to dimers of the composition [(Zn(II)Por/Pc)2·HCOO](-). In these, the formate anion can act as a structural probe, allowing the distinction of isomeric ions with the formate bridging two macrocycles or being attached to a dimer of directly connected macrocycles.

Fecal Calprotectin Levels Are Closely Correlated with the Absence of Relevant Mucosal Lesions in Postoperative Crohn's Disease.

PubMed

Garcia-Planella, Esther; Mañosa, Míriam; Cabré, Eduard; Marín, Laura; Gordillo, Jordi; Zabana, Yamile; Boix, Jaume; Sáinz, Sergio; Domènech, Eugeni

2016-12-01

Fecal calprotectin (FC) is the best noninvasive biomarker of disease activity in inflammatory bowel disease. Its correlation with endoscopic mucosal lesions could save inconvenient, expensive, and repeated endoscopic examinations in particular clinical settings. To assess the correlation between FC and the existence and severity of endoscopic postoperative recurrence (POR), a group of clinically stable outpatients with Crohn's disease for whom an ileocolonoscopy was routinely planned to assess POR were invited to collect a stool sample before starting bowel cleansing to measure FC. POR was graded by means of Rutgeerts endoscopic score. One hundred nineteen ileocolonoscopies were included, 42% with endoscopic POR. FC was significantly lower in the absence of endoscopic POR and in the absence of any endoscopic lesion. The area under the receiver operating characteristic curve was 0.76 (95% confidence interval, 0.68-0.85) for the diagnosis of the absence of lesions and 0.75 (95% confidence interval, 0.66-0.84) for endoscopic POR. Better sensitivity and negative predictive value were observed when combining FC and serum C-reactive protein (CRP), leading to a sensitivity of 82%, a specificity of 53%, and negative and positive predictive values of 81% and 54%, respectively, for the prediction of endoscopic POR with a combination of FC 100 μg/g and CRP 5 mg/L cutoff values. FC correlates closely with endoscopic POR in clinically stable postoperative patients with Crohn's disease and, when used in combination with CRP, might save endoscopic examinations and allow for a high-grade suspicion of endoscopic POR in the long-term monitoring of these patients.

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

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.

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 .

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

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

[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.

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

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.

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.

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.

[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.

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

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

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.

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

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

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

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

[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.

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.

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.

Anti-inflammatory, Analgesic and Antiulcer properties of Porphyra vietnamensis.

PubMed

Bhatia, Saurabh; Sharma, Kiran; Sharma, Ajay; Nagpal, Kalpana; Bera, Tanmoy

2015-01-01

Aim of the present work was to investigate the anti-inflammatory, analgesic and antiulcer effects of red seaweed Porphyra vietnamensis (P. vietnamenis). Aqueous (POR) and alcoholic (PE) fractions were successfully isolated from P. vietnamenis. Further biological investigations were performed using a classic test of paw edema induced by carrageenan, writhing induced by acetic acid, hot plate method and naproxen induced gastro-duodenal ulcer. Among the fractions POR showed better activity. POR and PE significantly (p < 0.05) reduced carrageenan induced paw edema in a dose dependent manner. In the writhing test POR significantly (p < 0.05) reduced abdominal writhes than PE. In hot plate method POR showed better analgesic activity than PE. POR showed comparable ulcers reducing potential (p<0.01) to that of omeprazole, and has more ulcer reducing potential then PE. The results of this study demonstrated that P. vietnamenis aqueous fraction possesses biological activity that is close to the standards taken for the treatment of peripheral painful or/and inflammatory and ulcer conditions.

76 FR 24857 - Fresh Garlic From the People's Republic of China: Preliminary Intent To Rescind New Shipper Reviews

Federal Register 2010, 2011, 2012, 2013, 2014

2011-05-03

... sales are not bona fide. As such, we are preliminarily rescinding the NSR for Shenzhen Bainong and... sale or entry during the original, unextended POR, and therefore we are preliminarily rescinding the...-annual NSR POR. When the sale of the subject merchandise occurs within the POR specified by the...

An ortholog of farA of Aspergillus nidulans is implicated in the transcriptional activation of genes involved in fatty acid utilization in the yeast Yarrowia lipolytica

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

Poopanitpan, Napapol; Kobayashi, Satoshi; Fukuda, Ryouichi

2010-11-26

Research highlights: {yields} POR1 is a Yarrowia lipolytica ortholog of farA involved in fatty acid response in A. nidulans. {yields} Deletion of POR1 caused growth defects on fatty acids. {yields} {Delta}por1 strain exhibited defects in the induction of genes involved in fatty acid utilization. -- Abstract: The yeast Yarrowia lipolytica effectively utilizes hydrophobic substrates such as fatty acids and n-alkanes. To identify a gene(s) regulating fatty acid utilization in Y. lipolytica, we first studied homologous genes to OAF1 and PIP2 of Saccharomyces cerevisiae, but their disruption did not change growth on oleic acid at all. We next characterized a Y.more » lipolytica gene, POR1 (primary oleate regulator 1), an ortholog of farA encoding a transcriptional activator that regulates fatty acid utilization in Aspergillus nidulans. The deletion mutant of POR1 was defective in the growth on various fatty acids, but not on glucose, glycerol, or n-hexadecane. It exhibited slight defect on n-decane. The transcriptional induction of genes involved in {beta}-oxidation and peroxisome proliferation by oleate was distinctly diminished in the {Delta}por1 strains. These data suggest that POR1 encodes a transcriptional activator widely regulating fatty acid metabolism in Y. lipolytica.« less

NADPH–Cytochrome P450 Oxidoreductase: Roles in Physiology, Pharmacology, and Toxicology

PubMed Central

Ding, Xinxin; Wolf, C. Roland; Porter, Todd D.; Pandey, Amit V.; Zhang, Qing-Yu; Gu, Jun; Finn, Robert D.; Ronseaux, Sebastien; McLaughlin, Lesley A.; Henderson, Colin J.; Zou, Ling; Flück, Christa E.

2013-01-01

This is a report on a symposium sponsored by the American Society for Pharmacology and Experimental Therapeutics and held at the Experimental Biology 2012 meeting in San Diego, California, on April 25, 2012. The symposium speakers summarized and critically evaluated our current understanding of the physiologic, pharmacological, and toxicological roles of NADPH–cytochrome P450 oxidoreductase (POR), a flavoprotein involved in electron transfer to microsomal cytochromes P450 (P450), cytochrome b5, squalene mono-oxygenase, and heme oxygenase. Considerable insight has been derived from the development and characterization of mouse models with conditional Por deletion in particular tissues or partial suppression of POR expression in all tissues. Additional mouse models with global or conditional hepatic deletion of cytochrome b5 are helping to clarify the P450 isoform- and substrate-specific influences of cytochrome b5 on P450 electron transfer and catalytic function. This symposium also considered studies using siRNA to suppress POR expression in a hepatoma cell–culture model to explore the basis of the hepatic lipidosis phenotype observed in mice with conditional deletion of Por in liver. The symposium concluded with a strong translational perspective, relating the basic science of human POR structure and function to the impacts of POR genetic variation on human drug and steroid metabolism. PMID:23086197

Influence of cytochrome P450 oxidoreductase genetic polymorphisms on CYP1A2 activity and inducibility by smoking.

PubMed

Dobrinas, Maria; Cornuz, Jacques; Pedrido, Leticia; Eap, Chin B

2012-02-01

Cytochrome P4501A2 (CYP1A2) presents a high interindividual variability in its activity and also in its inducibility by smoking. Cytochrome P450 oxidoreductase (POR) is an electron transfer protein that catalyzes the activity of several cytochromes P450. We aimed to study the influence of POR genetic polymorphisms on CYP1A2 activity while smoking and after smoking cessation, as well as on CYP1A2 inducibility. CYP1A2 activity was determined by the paraxanthine/caffeine ratio in 184 smokers and in 113 of these smokers who were abstinent during a 4-week period. Participants were genotyped for POR rs17148944G>A, rs10239977C>T, rs3815455C>T, rs2286823G>A, rs2302429G>A, and rs1057868C>T (POR*28) polymorphisms. While smoking, none of the tested POR polymorphisms showed a significant influence on CYP1A2 activity. After smoking cessation, significantly higher CYP1A2 activity was found in POR rs2302429A carriers (P=0.038) and in carriers of rs17148944G-rs10239977C-rs3815455T-rs2286823G-rs2302429A-rs1057868T haplotype (P=0.038), whereas carriers of POR rs2286823A (P=0.031) and of the rs17148944G-rs10239977C-rs3815455C-rs2286823A-rs2302429G-rs1057868C haplotype (P=0.031) had decreased CYP1A2 activity. In the complete regression model, only POR rs2302429G>A showed a significant effect (P=0.017). No influence of POR genotypes or haplotypes was observed on the inducibility of CYP1A2. POR genetic polymorphisms influence CYP1A2 basal but not induced activity and do not seem to influence CYP1A2 inducibility. Future work is warranted to identify other clinical and genetic factors that may explain the variability in CYP1A2 activity and inducibility by smoking.

Deletion of P399{sub E}401 in NADPH cytochrome P450 oxidoreductase results in partial mixed oxidase deficiency

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

Flueck, Christa E., E-mail: christa.flueck@dkf.unibe.ch; Mallet, Delphine; Hofer, Gaby

2011-09-09

Highlights: {yields} Mutations in human POR cause congenital adrenal hyperplasia. {yields} We are reporting a novel 3 amino acid deletion mutation in POR P399{sub E}401del. {yields} POR mutation P399{sub E}401del decreased P450 activities by 60-85%. {yields} Impairment of steroid metabolism may be caused by multiple hits. {yields} Severity of aromatase inhibition is related to degree of in utero virilization. -- Abstract: P450 oxidoreductase (POR) is the electron donor for all microsomal P450s including steroidogenic enzymes CYP17A1, CYP19A1 and CYP21A2. We found a novel POR mutation P399{sub E}401del in two unrelated Turkish patients with 46,XX disorder of sexual development. Recombinant PORmore » proteins were produced in yeast and tested for their ability to support steroid metabolizing P450 activities. In comparison to wild-type POR, the P399{sub E}401del protein was found to decrease catalytic efficiency of 21-hydroxylation of progesterone by 68%, 17{alpha}-hydroxylation of progesterone by 76%, 17,20-lyase action on 17OH-pregnenolone by 69%, aromatization of androstenedione by 85% and cytochrome c reduction activity by 80%. Protein structure analysis of the three amino acid deletion P399{sub E}401 revealed reduced stability and flexibility of the mutant. In conclusion, P399{sub E}401del is a novel mutation in POR that provides valuable genotype-phenotype and structure-function correlation for mutations in a different region of POR compared to previous studies. Characterization of P399{sub E}401del provides further insight into specificity of different P450s for interaction with POR as well as nature of metabolic disruptions caused by more pronounced effect on specific P450s like CYP17A1 and aromatase.« less

"Spider"-shaped porphyrins with conjugated pyridyl anchoring groups as efficient sensitizers for dye-sensitized solar cells.

PubMed

Stangel, Christina; Bagaki, Anthi; Angaridis, Panagiotis A; Charalambidis, Georgios; Sharma, Ganesh D; Coutsolelos, Athanasios G

2014-11-17

Two novel "spider-shaped" porphyrins, meso-tetraaryl-substituted 1PV-Por and zinc-metalated 1PV-Zn-Por, bearing four oligo(p-phenylenevinylene) (oPPV) pyridyl groups with long dodecyloxy chains on the phenyl groups, have been synthesized. The presence of four pyridyl groups in both porphyrins, which allow them to act as anchoring groups upon coordination to various Lewis acid sites, the conjugated oPPV bridges, which offer the possibility of electronic communication between the porphyrin core and the pyridyl groups, and the dodecyloxy groups, which offer the advantage of high solubility in a variety of organic solvents of different polarities and could prevent porphyrin aggregation, renders porphyrins 1PV-Por and 1PV-Zn-Por very promising sensitizers for dye-sensitized solar cells (DSSCs). Photophysical measurements, together with electrochemistry experiments and density functional theory calculations, suggest that both porphyrins have frontier molecular orbital energy levels that favor electron injection and dye regeneration in DSSCs. Solar cells sensitized by 1PV-Por and 1PV-Zn-Por were fabricated, and it was found that they show power conversion efficiencies (PCEs) of 3.28 and 5.12%, respectively. Photovoltaic measurements (J-V curves) together with incident photon-to-electron conversion efficiency spectra of the two cells reveal that the higher PCE value of the DSSC based on 1PV-Zn-Por is ascribed to higher short-circuit current (Jsc), open-circuit voltage (Voc), and dye loading values. Emission spectra and electrochemistry experiments suggest a greater driving force for injection of the photogenerated electrons into the TiO2 conduction band for 1PV-Zn-Por rather than its free-base analogue. Furthermore, electrochemical impedance spectroscopy measurements prove that the utilization of 1PV-Zn-Por as a sensitizer offers a high charge recombination resistance and, therefore, leads to a longer electron lifetime.

Anti-inflammatory, Analgesic and Antiulcer properties of Porphyra vietnamensis

PubMed Central

Bhatia, Saurabh; Sharma, Kiran; Sharma, Ajay; Nagpal, Kalpana; Bera, Tanmoy

2015-01-01

Objectives: Aim of the present work was to investigate the anti-inflammatory, analgesic and antiulcer effects of red seaweed Porphyra vietnamensis (P. vietnamenis). Materials and Methods: Aqueous (POR) and alcoholic (PE) fractions were successfully isolated from P. vietnamenis. Further biological investigations were performed using a classic test of paw edema induced by carrageenan, writhing induced by acetic acid, hot plate method and naproxen induced gastro-duodenal ulcer. Results: Among the fractions POR showed better activity. POR and PE significantly (p < 0.05) reduced carrageenan induced paw edema in a dose dependent manner. In the writhing test POR significantly (p < 0.05) reduced abdominal writhes than PE. In hot plate method POR showed better analgesic activity than PE. POR showed comparable ulcers reducing potential (p<0.01) to that of omeprazole, and has more ulcer reducing potential then PE. Conclusions: The results of this study demonstrated that P. vietnamenis aqueous fraction possesses biological activity that is close to the standards taken for the treatment of peripheral painful or/and inflammatory and ulcer conditions. PMID:25767759

La Resonancia J/$$\\psi$$ y Sus Implicaciones Para La Masa Del W (in Spanish)

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

Sanchez-Hernandez, Alberto

Es un placer agradecer a mi asesor el doctor Heriberto Castilla Valdez por brindarme sus conocimientos, experiencia y paciencia en el desarrollo de esta tesis; tambien quiero agradecer al profesor H.E. Fisk, por su apoyo econemico en mi estancia en Fermilab. De igual forma agradezco a los doctores Arturo Fernandez Telles, Miguel Angel Perez Angen y Rebeca Juarez Wisozka quienes me introdujeron al campo de la fisica experimental de altas energfas. Agradezco tambien a Maribel Rios Cruz, Ruben Flores Mendieta, Juan Morales Corona, Fabiola Vazquez Valencia, Salvador Carrillo Moreno y Cecilia Uribe Estrada por su amistad y compaiierismo durante elmore » desarrollo de mi maestria. Un especial agradecimiento a Ian Adam y Kina Denisenko por su valiosa ayuda, comentarios y discusiones durante mi estancia en Fermilab. Por ultimo quisiera agradecer a mis profesores, amigos y familiares quienes siempre me apoyaron y alentaron y al Consejo N acional de Ciencia y Tecnologfa asf como al Departamento de Fisica de Cinvestav por su apoyo econemlco.« less

Influence of the doping type and level on the morphology of porous Si formed by galvanic etching

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

Pyatilova, O. V., E-mail: 5ilova87@gmail.com; Gavrilov, S. A.; Shilyaeva, Yu. I.

The formation of porous silicon (por-Si) layers by the galvanic etching of single-crystal Si samples (doped with boron or phosphorus) in an HF/C{sub 2}H{sub 5}OH/H{sub 2}O{sub 2} solution is investigated. The por-Si layers are analyzed by the capillary condensation of nitrogen and scanning electron microscopy (SEM). The dependences of the morphological characteristics of por-Si (pore diameter, specific surface area, pore volume, and thickness of the pore walls), which determine the por-Si combustion kinetics, on the dopant type and initial wafer resistivity are established.

Evidence for the bacterial origin of genes encoding fermentation enzymes of the amitochondriate protozoan parasite Entamoeba histolytica.

PubMed

Rosenthal, B; Mai, Z; Caplivski, D; Ghosh, S; de la Vega, H; Graf, T; Samuelson, J

1997-06-01

Entamoeba histolytica is an amitochondriate protozoan parasite with numerous bacterium-like fermentation enzymes including the pyruvate:ferredoxin oxidoreductase (POR), ferredoxin (FD), and alcohol dehydrogenase E (ADHE). The goal of this study was to determine whether the genes encoding these cytosolic E. histolytica fermentation enzymes might derive from a bacterium by horizontal transfer, as has previously been suggested for E. histolytica genes encoding heat shock protein 60, nicotinamide nucleotide transhydrogenase, and superoxide dismutase. In this study, the E. histolytica por gene and the adhE gene of a second amitochondriate protozoan parasite, Giardia lamblia, were sequenced, and their phylogenetic positions were estimated in relation to POR, ADHE, and FD cloned from eukaryotic and eubacterial organisms. The E. histolytica por gene encodes a 1,620-amino-acid peptide that contained conserved iron-sulfur- and thiamine pyrophosphate-binding sites. The predicted E. histolytica POR showed fewer positional identities to the POR of G. lamblia (34%) than to the POR of the enterobacterium Klebsiella pneumoniae (49%), the cyanobacterium Anabaena sp. (44%), and the protozoan Trichomonas vaginalis (46%), which targets its POR to anaerobic organelles called hydrogenosomes. Maximum-likelihood, neighbor-joining, and parsimony analyses also suggested as less likely E. histolytica POR sharing more recent common ancestry with G. lamblia POR than with POR of bacteria and the T. vaginalis hydrogenosome. The G. lamblia adhE encodes an 888-amino-acid fusion peptide with an aldehyde dehydrogenase at its amino half and an iron-dependent (class 3) ADH at its carboxy half. The predicted G. lamblia ADHE showed extensive positional identities to ADHE of Escherichia coli (49%), Clostridium acetobutylicum (44%), and E. histolytica (43%) and lesser identities to the class 3 ADH of eubacteria and yeast (19 to 36%). Phylogenetic analyses inferred a closer relationship of the E

First example of a modular porphyrinoid assembly capable of stabilizing different metal ions in a single molecular scaffold.

PubMed

Murugavel, Muthuchamy; Reddy, R V Ramana; Dey, Dhananjay; Sankar, Jeyaraman

2015-10-05

We report the synthesis and characterization of porphyrin-corrole-porphyrin (Por-Cor-Por) hybrids directly linked at the meso-meso positions for the first time. The stability and solubility of the trimer are carefully balanced by adding electron-withdrawing substituents to the corrole ring and sterically bulky groups on the porphyrins. The new hybrids are capable of stabilizing more than one metal ion in a single molecular scaffold. The versatility of the triad has been demonstrated by successfully stabilizing homo- (Ni) and heterotrinuclear (Ni-Cu-Ni) coordination motifs. The solid-state structure of the NiPor-CuCor-PorNi hybrid was revealed by single-crystal X-ray diffraction studies. The Ni(II) porphyrins are significantly ruffled and tilted by 83° from the plane of corrole. The robustness of the synthesized hybrids was reflected in the electrochemical investigations and the redox behaviour of the hybrids show that the oxidation processes are mostly corrole-centred. In particular it is worth noting that the Por-Cor-Por hybrid can further be manipulated due to the presence of substituent-free meso-positions on both the terminals. © 2015 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Management of post-operative Crohn's disease in 2017: where do we go from here?

PubMed

Nguyen, Vu; Kanth, Rajan; Gazo, Joshua; Sorrentino, Dario

2016-11-01

Postoperative recurrence (POR) of Crohn's disease is common after surgical resection. How to best manage POR remains uncertain. Areas covered: In this review, we will first describe the natural course and the best modalities to diagnose this surgical sequela. We will then focus on the potential risk factors for relapse and highlight the main shortcomings in the current study designs and endoscopic and clinical scoring systems, which may partly explain the unexpected outcomes of recent clinical trials. Finally, we will propose a strategy to address the management of POR. Expert commentary: Anti-tumor necrosis factor (Anti-TNF) agents are the most effective therapy to prevent POR in Crohn's disease. Patient risk stratification and active monitoring with scheduled ileocolonoscopy are cornerstones of optimal POR management. Further studies are needed to address areas of uncertainty including timing and duration of therapy and the role of therapeutic drug monitoring in this setting.

Developing a military nurse scientist program of research: A military women's health exemplar.

PubMed

Trego, Lori Lyn

Developing a feasible, fundable, and sustainable program of research (POR) is an essential career goal in research. Nurse scientists can lay the foundation for a salient POR as early as during their doctoral studies. The ensuing years of postdoctoral experiences are informative as they expand their research skills and knowledge around their research area of interest. Following graduation from a doctoral research program, novice military nurse scientists (MNS) are placed in positions that are conducive to fostering a POR. Military organizational support and the rich experiences of peers and mentors facilitate early career development of MNS. The purpose of this article is to present a conceptual framework for research career development of the novice MNS. Using an exemplar POR in military women's health, the concepts are operationalized to illustrate how the military environment enhances the development of a successful POR. Copyright © 2017 Elsevier Inc. All rights reserved.

Association between arsenic exposure from drinking water and proteinuria: results from the Health Effects of Arsenic Longitudinal Study

PubMed Central

Chen, Yu; Parvez, Faruque; Liu, Mengling; Pesola, Gene R; Gamble, Mary V; Slavkovich, Vesna; Islam, Tariqul; Ahmed, Alauddin; Hasan, Rabiul; Graziano, Joseph H; Ahsan, Habibul

2011-01-01

Background Proteinuria has been recognized as a marker for an increased risk of chronic renal disease. It is unclear whether arsenic (As) exposure from drinking water is associated with proteinuria. Methods We evaluated the association between As exposure from drinking water and proteinuria in 11 122 participants in the Health Effects of Arsenic Longitudinal Study (HEALS). Proteinuria was detected by urinary dipstick tests at baseline and at 2-year intervals. As exposure variables included baseline well As and changes in urinary As during follow-up modelled as time-dependent variables in the analyses. Results At baseline, well As was positively related to prevalence of proteinuria; prevalence odds ratios (PORs) for proteinuria in increasing quintiles of well As (≤7, 8–39, 40–91, 92–179 and 180–864 µg/l) were 1.00 (ref), POR 0.99 [95% confidence interval (CI) 0.77–1.27], POR 1.23 (95% CI 0.97–1.57), POR 1.50 (95% CI 1.18–1.89) and POR 1.59 (95% CI 1.26–2.00) (P for trend <0.01). Hazard ratios for incidence of proteinuria were POR 0.83 (95% CI 0.67–1.03) and POR 0.91 (95% CI 0.74–1.12) for participants with a decreasing level of >70 and 17–70 µg/l in urinary As over time, respectively, and were POR 1.17 (95% CI 0.97–1.42) and POR 1.42 (95% CI 1.16–1.73) for participants with an increasing level of 16–68 and >68 µg/l in urinary As over time, respectively, compared with the group with relatively little changes in urinary As as the reference group (urinary As −16 to 15 µg/l). Conclusion The findings suggest that there are adverse effects of As exposure on the risk of proteinuria and the effects are modifiable by recent changes in As exposure. PMID:21343184

Recombinant Salivary Proteins of Phlebotomus orientalis are Suitable Antigens to Measure Exposure of Domestic Animals to Sand Fly Bites

PubMed Central

Sima, Michal; Ferencova, Blanka; Warburg, Alon; Rohousova, Iva; Volf, Petr

2016-01-01

Background Certain salivary proteins of phlebotomine sand flies injected into the host skin during blood-feeding are highly antigenic and elicit strong antibody-mediated immune responses in repeatedly-exposed hosts. These antibodies can be measured by enzyme-linked immuno sorbent assays (ELISAs) using salivary gland homogenates (SGHs) as the source of antigens and serve as a markers for exposure to biting sand flies. Large-scale screening for anti-sand fly saliva antibodies requires replacement of SGH with recombinant salivary proteins. In East Africa, Phlebotomus orientalis is the main vector of Leishmania donovani, a trypanosomatid parasite causing visceral leishmaniasis. We tested recombinant salivary proteins derived from Ph. orientalis saliva to study exposure of domestic animals to this sand fly species. Methodology/Principal Findings Antigenic salivary proteins from Ph. orientalis were identified by immunoblot and mass spectrometry. Recombinant apyrase rPorSP15, yellow-related protein rPorSP24, ParSP25-like protein rPorSP65, D7-related protein rPorSP67, and antigen 5-related protein rPorSP76 were tested using ELISA with sera of domestic animals from L. donovani foci in Ethiopia where Ph. orientalis is present. Our results highlighted recombinant yellow-related protein rPorSP24 as the most promising antigen, displaying a high positive correlation coefficient as well as good sensitivity and specificity when compared to SGH. This recombinant protein was the most suitable one for testing sera of dogs, sheep, and goats. In addition, a different antigen, rPorSP65 was found efficacious for testing canine sera. Conclusions/Significance Recombinant salivary proteins of Ph. orientalis, specifically rPorSP24, were shown to successfully substitute SGH in serological experiments to measure exposure of domestic animals to Ph. orientalis, the vector of L. donovani. The results suggest that rPorSP24 might be a suitable antigen for detecting anti-Ph. orientalis antibody

Recombinant Salivary Proteins of Phlebotomus orientalis are Suitable Antigens to Measure Exposure of Domestic Animals to Sand Fly Bites.

PubMed

Sima, Michal; Ferencova, Blanka; Warburg, Alon; Rohousova, Iva; Volf, Petr

2016-03-01

Certain salivary proteins of phlebotomine sand flies injected into the host skin during blood-feeding are highly antigenic and elicit strong antibody-mediated immune responses in repeatedly-exposed hosts. These antibodies can be measured by enzyme-linked immuno sorbent assays (ELISAs) using salivary gland homogenates (SGHs) as the source of antigens and serve as a markers for exposure to biting sand flies. Large-scale screening for anti-sand fly saliva antibodies requires replacement of SGH with recombinant salivary proteins. In East Africa, Phlebotomus orientalis is the main vector of Leishmania donovani, a trypanosomatid parasite causing visceral leishmaniasis. We tested recombinant salivary proteins derived from Ph. orientalis saliva to study exposure of domestic animals to this sand fly species. Antigenic salivary proteins from Ph. orientalis were identified by immunoblot and mass spectrometry. Recombinant apyrase rPorSP15, yellow-related protein rPorSP24, ParSP25-like protein rPorSP65, D7-related protein rPorSP67, and antigen 5-related protein rPorSP76 were tested using ELISA with sera of domestic animals from L. donovani foci in Ethiopia where Ph. orientalis is present. Our results highlighted recombinant yellow-related protein rPorSP24 as the most promising antigen, displaying a high positive correlation coefficient as well as good sensitivity and specificity when compared to SGH. This recombinant protein was the most suitable one for testing sera of dogs, sheep, and goats. In addition, a different antigen, rPorSP65 was found efficacious for testing canine sera. Recombinant salivary proteins of Ph. orientalis, specifically rPorSP24, were shown to successfully substitute SGH in serological experiments to measure exposure of domestic animals to Ph. orientalis, the vector of L. donovani. The results suggest that rPorSP24 might be a suitable antigen for detecting anti-Ph. orientalis antibody-mediated reactions also in other host species.

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

NASA Astrophysics Data System (ADS)

Uilhoorn, Frits E.

2013-06-01

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

Weathering resistance of thin plasma polymer films on pre-coated steel =

NASA Astrophysics Data System (ADS)

Serra, Ricardo Gil Henriques

O trabalho apresentado teve origem no projecto de investigacao “Tailored Thin Plasma Polymers Films for Surface Engineering of Coil Coated Steel”, financiado pelo Programa Europeu ECSC Steel Research. Sistemas de aco galvanizado pre-pintado em banda a base de poliester e poliuretano foram submetidos a um processo de polimerizacao por plasma onde um filme fino foi depositado de modo a modificar as propriedades de superficie. Foram usados reactores de catodo oco, microondas e radio frequencia para a deposicao do polimero fino. Os sistemas preparados foram analisados de modo a verificar a influencia do processo de polimerizacao por plasma na alteracao das propriedades barreira dos sistemas pre-pintados em banda. Foi estudado o efeito dos diferentes passos do processo de polimerizacao por plasma, bem como o efeito de diferentes variaveis operatorias. A mistura precursora foi variada de modo a modificar as propriedades da superficie de modo a poder vir a obter maior hidrofobicidade, maior resistencia a marcas digitais, bem como maior facilidade de limpeza. Os testes foram conduzidos em solucao de NaCl 0,5 M. Para o trabalho foram usadas tecnicas de analise da morfologia da superficie como Microscopia de Forca Atomica e Microscopia Electronica de Varrimento. As propriedades electroquimicas dos sistemas foram estudadas por Espectroscopia de Impedancia Electroquimica. A estrutura dos filmes gerados no processo de polimerizacao por plasma foi caracterizada por Microscopia de Transmissao Electronica. A modificacao das propriedades opticas devido ao processo de polimerizacao por plasma foi tambem obtida.

Prognosis and cost-effectiveness of IVF in poor responders according to the Bologna Criteria.

PubMed

Busnelli, Andrea; Somigliana, Edgardo

2018-02-01

Poor ovarian response (POR) to controlled ovarian hyperstimulation for in vitro fertilization (IVF) is one of the most challenging issue in the field of reproductive medicine. However, even if improving IVF outcome in poor responders (PORs) represents a main priority, the lack of a unique definition of POR has hampered research in this area. In order to overcome this impediment, an ESHRE Campus Workshop was organized in Bologna in 2010 and reached a consensus on the criteria for the diagnosis of POR ("Bologna Criteria"). In this review we aimed to estimate the prognostic potential of the ESHRE definition, to elucidate its possible weaknesses and to analyze the economic aspects of IVF in a population of poor responders (PORs). Available evidence confirmed that the Bologna criteria are able to select a population with a poor IVF prognosis thus supporting their validity. Nonetheless, different aspects of the definition have been criticized. The main points of debate concern the homogeneity of the population identified, the cut-off values chosen for the ovarian reserve tests and the risks factors other than age associated with POR. Data concerning the economic profile of IVF in PORs are scanty. The only published study on the argument showed that IVF in these cases is not cost-effective. However, considering the potential substantial impact of cost-effectiveness analyses on public health policies, there is the need for further and independent validations.

Estimación de pequeñas perturbaciones en satélites geocéntricos como un problema inverso

NASA Astrophysics Data System (ADS)

Zadunaisky, P. E.

El movimiento geocéntrico de un satélite artificial es simulado automáticamente por un sistema de ecuaciones diferenciales de segundo orden que incluyen dos funciones perturbadoras. La primera representa el segundo término del potencial gravitatorio de la Tierra y la segunda corresponde al frenado atmosférico. Asumiendo como conocidas, por hipótesis o por mediciones, la posición y velocidad del satélite en instantes sucesivos se estiman las perturbaciones a intervalos sucesivos por un método determinístico. Para ilustrar el método y comprobar la precisión de nuestros resultados hemos simulado dos ejemplos incluyendo valores conocidos de las perturbaciones que luego comparamos con los resultados de nuestro método. El método puede aplicarse por ejemplo para el intervalo de una revolución satelital lo cual permitiría el diseño inmediato de una maniobra correctiva de la órbita satelital.

El Estado de los Bosques de Puerto Rico, 2003

Treesearch

Thomas J. Brandeis; Eileen H. Helmer; Sonja N. Oswalt

2003-01-01

La cobertura forestal de Puerto Rico sigue aumentando y ahora asciende a un 57 por ciento en la isla de Puerto Rico, 85 por ciento en Vieques y 88 por ciento en Culebra. Los bosques subtropicales secos ocupan 50 346 ha, 6832 ha, 2591 ha y 6217 ha en las islas de Puerto Rico, Vieques, Culebra y Mona, respectivamente. El bosque subtropical húmedo, la zona de vida...

"Power-on resets" in cardiac implantable electronic devices during magnetic resonance imaging.

PubMed

Higgins, John V; Sheldon, Seth H; Watson, Robert E; Dalzell, Connie; Acker, Nancy; Cha, Yong-Mei; Asirvatham, Samuel J; Kapa, Suraj; Felmlee, Joel P; Friedman, Paul A

2015-03-01

Magnetic resonance imaging (MRI) has been safely performed in some patients with cardiac implantable electronic devices (CIEDs) under careful monitoring and prespecified conditions. Pacemaker-dependent patients are often excluded, partly because of the potential for "power-on reset" (PoR), which can lead to a change from asynchronous to inhibited pacing with consequent inhibition of pacing due to electromagnetic interference during MRI. The purpose of this study was to review risk factors for PoR during MRI. A prospective study was performed between January 2008 and May 2013 in patients with CIEDs undergoing clinically indicated MRI. Eligible patients were not pacemaker dependent. Devices were interrogated before and after MRI, programmed to an asynchronous mode or an inhibition mode with tachyarrhythmia therapies turned off, and reprogrammed to their original settings after MRI. MRI scans (n = 256) were performed in 198 patients with non-MRI-conditional CIEDs between 2008 and 2013 (median age 66 years; interquartile range 57-77 years; 59% men). PoR occurred during 9 MRI scans (3.5%) in 8 patients. PoR was more frequent with Medtronic devices than with other generator brands (n = 9/139 vs 0/117 [6% vs 0%]; P = .005). Devices with PoR were all released before 2002 and were implanted from 1999 to 2004. Effects of PoR included a decrease in heart rate during MRI (n = 4) and transient anomalous battery life indication (n = 1). All devices functioned normally after MRI. PoR occurs infrequently but can cause deleterious changes in pacing mode and heart rate. MRI should not be performed in pacemaker-dependent patients with older at-risk generators. Continuous monitoring during MRI is essential because unrecognized PoR may inhibit pacing or accelerate battery depletion due to high pacing output. Copyright © 2015 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.

Hospitalization costs of severe bacterial pneumonia in children: comparative analysis considering different costing methods.

PubMed

Nunes, Sheila Elke Araujo; Minamisava, Ruth; Vieira, Maria Aparecida da Silva; Itria, Alexander; Pessoa, Vicente Porfirio; Andrade, Ana Lúcia Sampaio Sgambatti de; Toscano, Cristiana Maria

2017-01-01

To determine and compare hospitalization costs of bacterial community-acquired pneumonia cases via different costing methods under the Brazilian Public Unified Health System perspective. Cost-of-illness study based on primary data collected from a sample of 59 children aged between 28 days and 35 months and hospitalized due to bacterial pneumonia. Direct medical and non-medical costs were considered and three costing methods employed: micro-costing based on medical record review, micro-costing based on therapeutic guidelines and gross-costing based on the Brazilian Public Unified Health System reimbursement rates. Costs estimates obtained via different methods were compared using the Friedman test. Cost estimates of inpatient cases of severe pneumonia amounted to R$ 780,70/$Int. 858.7 (medical record review), R$ 641,90/$Int. 706.90 (therapeutic guidelines) and R$ 594,80/$Int. 654.28 (Brazilian Public Unified Health System reimbursement rates). Costs estimated via micro-costing (medical record review or therapeutic guidelines) did not differ significantly (p=0.405), while estimates based on reimbursement rates were significantly lower compared to estimates based on therapeutic guidelines (p<0.001) or record review (p=0.006). Brazilian Public Unified Health System costs estimated via different costing methods differ significantly, with gross-costing yielding lower cost estimates. Given costs estimated by different micro-costing methods are similar and costing methods based on therapeutic guidelines are easier to apply and less expensive, this method may be a valuable alternative for estimation of hospitalization costs of bacterial community-acquired pneumonia in children. Determinar e comparar custos hospitalares no tratamento da pneumonia bacteriana adquirida na comunidade por diferentes metodologias de custeio, na perspectiva do Sistema Único de Saúde. Estudo de custo, com coleta de dados primários de uma amostra de 59 crianças com 28 dias a 35 meses de idade

The role of galectin-1 in in vitro and in vivo photodynamic therapy with a galactodendritic porphyrin.

PubMed

Pereira, Patrícia M R; Silva, Sandrina; Ramalho, José S; Gomes, Célia M; Girão, Henrique; Cavaleiro, José A S; Ribeiro, Carlos A F; Tomé, João P C; Fernandes, Rosa

2016-11-01

Conventional photodynamic agents used in clinic are porphyrin-based photosensitizers. However, they have low tumour selectivity, which may induce unwanted side-effects and damage to healthy tissues. In this study, we used a porphyrin with dendritic units of galactose (PorGal 8 ) developed by us, which can target the galactose-binding protein, galectin-1, known to be overexpressed in many tumour tissues. In vitro and in vivo studies had been conducted for the validation of PorGal 8 effectiveness. We showed a specific uptake of PorGal 8 and induction of apoptotic cell death by generating oxidative stress and alterations in the cytoskeleton of bladder cancer cells overexpressing galectin-1. We further validated the photodynamic efficiency of PorGal 8 in athymic nude mice (Balb/c nu/nu) bearing subcutaneously implanted luciferase-positive bladder cancer xenografts, overexpressing galectin-1 protein. PorGal 8 (5 μmol/kg, intraperitoneal), injected 24 h before light delivery (50.4 J/cm 2 ), inhibited tumour growth. We conclude that the use of PorGal 8 enables selective target and cytotoxicity by photodynamic therapy in cancer cells overexpressing galectin-1, preventing undesired phototoxicity in the surrounding healthy tissues. Copyright © 2016 Elsevier Ltd. All rights reserved.

Empirical Analysis of Using Erasure Coding in Outsourcing Data Storage With Provable Security

DTIC Science & Technology

2016-06-01

the fastest encoding performance among the four tested schemes. We expected to observe that Cauchy Reed-Solomonwould be faster than Reed- Solomon for all...providing recoverability for POR. We survey MDS codes and select Reed- Solomon and Cauchy Reed- Solomon MDS codes to be implemented into a prototype POR...tools providing recoverability for POR. We survey MDS codes and select Reed- Solomon and Cauchy Reed- Solomon MDS codes to be implemented into a

Co-infection of classic swine H1N1 influenza virus in pigs persistently infected with porcine rubulavirus.

PubMed

Rivera-Benitez, José Francisco; De la Luz-Armendáriz, Jazmín; Saavedra-Montañez, Manuel; Jasso-Escutia, Miguel Ángel; Sánchez-Betancourt, Ivan; Pérez-Torres, Armando; Reyes-Leyva, Julio; Hernández, Jesús; Martínez-Lara, Atalo; Ramírez-Mendoza, Humberto

2016-02-29

Porcine rubulavirus (PorPV) and swine influenza virus infection causes respiratory disease in pigs. PorPV persistent infection could facilitate the establishment of secondary infections. The aim of this study was to analyse the pathogenicity of classic swine H1N1 influenza virus (swH1N1) in growing pigs persistently infected with porcine rubulavirus. Conventional six-week-old pigs were intranasally inoculated with PorPV, swH1N1, or PorPV/swH1N1. A mock-infected group was included. The co-infection with swH1N1 was at 44 days post-infection (DPI), right after clinical signs of PorPV infection had stopped. The pigs of the co-infection group presented an increase of clinical signs compared to the simple infection groups. In all infected groups, the most recurrent lung lesion was hyperplasia of the bronchiolar-associated lymphoid tissue and interstitial pneumonia. By means of immunohistochemical evaluation it was possible to demonstrate the presence of the two viral agents infecting simultaneously the bronchiolar epithelium. Viral excretion of PorPV in nasal and oral fluid was recorded at 28 and 52 DPI, respectively. PorPV persisted in several samples from respiratory tissues (RT), secondary lymphoid organs (SLO), and bronchoalveolar lavage fluid (BALF). For swH1N1, the viral excretion in nasal fluids was significantly higher in single-infected swH1N1 pigs than in the co-infected group. However, the co-infection group exhibited an increase in the presence of swH1N1 in RT, SLO, and BALF at two days after co-infection. In conclusion, the results obtained confirm an increase in the clinical signs of infection, and PorPV was observed to impact the spread of swH1N1 in analysed tissues in the early stage of co-infection, although viral shedding was not enhanced. In the present study, the interaction of swH1N1 infection is demonstrated in pigs persistently infected with PorPV. Copyright © 2016 Elsevier B.V. All rights reserved.

Monóxido de carbono

EPA Pesticide Factsheets

La mayoria de los accidentes causados por envenenamiento por monoxido de carbono (CO) se producen en los hogares y estan relacionados a nuestras actividades diarias como cocinar y usar la calefaccion.

Genetic variations in NADPH-CYP450 oxidoreductase in a Czech Slavic cohort

PubMed Central

Tomková, Mária; Panda, Satya Prakash; Šeda, Ondřej; Baxová, Alice; Hůlková, Martina; Masters, Bettie Sue Siler; Martásek, Pavel

2015-01-01

Background Gene polymorphisms encoding the enzyme NADPH–cytochrome P450 oxidoreductase (POR) contribute to inter-individual differences in drug response. Aim To estimate polymorphic allele frequencies of the POR gene in a Czech Slavic population. Materials & Methods The gene POR was analyzed in 322 Czech Slavic individuals from a control cohort by sequencing and HRM analysis. Results Twenty-five SNP genetic variations were identified. Of these variants, 7 were new, unreported SNPs, including two SNPs in the 5´flanking region (g.4965 C>T and g.4994 G>T), one intronic variant (c.1899 −20C>T), one synonymous SNP (p.20Ala=) and three nonsynonymous SNPs (p.Thr29Ser, p.Pro384Leu and p.Thr529Met). The p.Pro384Leu variant exhibited reduced enzymatic activities compared to wild type. Conclusion New POR variant identification indicates that the number of uncommon variants might be specific for each subpopulation being investigated, particularly germane to the singular role that POR plays in providing reducing equivalents to all CYPs in the endoplasmic reticulum. PMID:25712184

Completing the surrogate motherhood process: parental order reporters' attitudes towards surrogacy arrangements, role ambiguity and role conflict.

PubMed

Purewal, Satvinder; Crawshaw, Marilyn; van den Akker, Olga

2012-06-01

This study investigated the attitudes of parental order reporters (PORs) towards their work with surrogacy arrangements and their experiences of role conflict and role ambiguity. A questionnaire was used to assess PORs' perceptions of their role in parental order [PO] applications, attitudes towards surrogacy arrangements and the legal process and the influence of role ambiguity or conflict. Questionnaires were distributed to all PORs employed by the Children and Family Court Advisory and Support Service in England. Thirty-three PORs participated (response rate 46%) who, on average, had each completed five PO applications (range 1-40). Positive attitudes towards surrogacy and the child's needs for openness about origins were found. Concerns about the inadequacy of preparation and assessment arrangements, overseas arrangements and non-regulation of surrogacy agencies were evident. PORs with high-role ambiguity were more likely to report less positive attitudes towards the emotional consequence of surrogacy on offspring. High scores on role ambiguity and role conflict were reflected in less positive attitudes towards the parties' preparation towards parenthood. These results have implications for training, policy and practice in this area.

Neuraminidase activity of blue eye disease porcine rubulavirus: Specificity, affinity and inhibition studies.

PubMed

Santos-López, Gerardo; Borraz-Argüello, María T; Márquez-Domínguez, Luis; Flores-Alonso, Juan Carlos; Ramírez-Mendoza, Humberto; Priem, Bernard; Fort, Sébastien; Vallejo-Ruiz, Verónica; Reyes-Leyva, Julio; Herrera-Camacho, Irma

2017-10-01

Porcine rubulavirus (PorPV), also known as La Piedad Michoacan Virus (LPMV) causes encephalitis and reproductive failure in newborn and adult pigs, respectively. The hemagglutinin-neuraminidase (HN) glycoprotein is the most exposed and antigenic of the virus proteins. HN plays central roles in PorPV infection; i.e., it recognizes sialic acid-containing cell receptors that mediate virus attachment and penetration; in addition, its neuraminidase (sialic acid releasing) activity has been proposed as a virulence factor. This work describes the purification and characterization of PorPV HN protein (isolate PAC1). The specificity of neuraminidase is restricted to sialyl(α2,3)lactose (3SL). HN showed typical Michaelis-Menten kinetics with fetuin as substrate (km=0.029μM, Vmax=522.8nmolmin -1 mg -1 ). When 3SL was used as substrate, typical cooperative kinetics were found (S 50 =0.15μM, Vmax=154.3nmolmin -1 mg -1 ). The influenza inhibitor zanamivir inhibited the PorPV neuraminidase with IC 50 of 0.24μM. PorPV neuraminidase was activated by Ca 2+ and inhibited by nucleoside triphosphates with the level of inhibition depending on phosphorylation level. The present results open possibilities to study the role of neuraminidase in the pathogenicity of PorPV infection and its potential inhibitors. Copyright © 2017 Elsevier Ltd. All rights reserved.

Prevalence of asthma and chronic obstructive pulmonary disease in Aboriginal and non-Aboriginal populations: A systematic review and meta-analysis of epidemiological studies

PubMed Central

Ospina, Maria B; Voaklander, Donald C; Stickland, Michael K; King, Malcolm; Senthilselvan, Ambikaipakan; Rowe, Brian H

2012-01-01

BACKGROUND: Asthma and chronic obstructive pulmonary disease (COPD) have considerable potential for inequities in diagnosis and treatment, thereby affecting vulnerable groups. OBJECTIVE: To evaluate differences in asthma and COPD prevalence between adult Aboriginal and non-Aboriginal populations. METHODS: MEDLINE, EMBASE, specialized databases and the grey literature up to October 2011 were searched to identify epidemiological studies comparing asthma and COPD prevalence between Aboriginal and non-Aboriginal adult populations. Prevalence ORs (PORs) and 95% CIs were calculated in a random-effects meta-analysis. RESULTS: Of 132 studies, eight contained relevant data. Aboriginal populations included Native Americans, Canadian Aboriginals, Australian Aboriginals and New Zealand Maori. Overall, Aboriginals were more likely to report having asthma than non-Aboriginals (POR 1.41 [95% CI 1.23 to 1.60]), particularly among Canadian Aboriginals (POR 1.80 [95% CI 1.68 to 1.93]), Native Americans (POR 1.41 [95% CI 1.13 to 1.76]) and Maori (POR 1.64 [95% CI 1.40 to 1.91]). Australian Aboriginals were less likely to report asthma (POR 0.49 [95% CI 0.28 to 0.86]). Sex differences in asthma prevalence between Aboriginals and their non-Aboriginal counterparts were not identified. One study compared COPD prevalence between Native and non-Native Americans, with similar rates in both groups (POR 1.08 [95% CI 0.81 to 1.44]). CONCLUSIONS: Differences in asthma prevalence between Aboriginal and non-Aboriginal populations exist in a variety of countries. Studies comparing COPD prevalence between Aboriginal and non-Aboriginal populations are scarce. Further investigation is needed to identify and account for factors associated with respiratory health inequalities among Aboriginal peoples. PMID:23248798

Disconnection of the Perirhinal and Postrhinal Cortices Impairs Recognition of Objects in Context But Not Contextual Fear Conditioning

PubMed Central

2017-01-01

The perirhinal cortex (PER) is known to process object information, whereas the rodent postrhinal cortex (POR), homolog to the parahippocampal cortex in primates, is thought to process spatial information. A number of studies, however, provide evidence that both areas are involved in processing contextual information. In this study, we tested the hypothesis that the rat POR relies on object information received from the PER to form complex representations of context. Using three fear-conditioning (FC) paradigms (signaled, unsignaled, and renewal) and two context-guided object recognition tasks (with 3D and 2D objects), we examined the effects of crossed excitotoxic lesions to the POR and the contralateral PER. Performance of rats with crossed lesions was compared with that of rats with ipsilateral POR plus PER lesions and sham-operated rats. We found that rats with contralateral PER–POR lesions were impaired in object–context recognition but not in contextual FC. Therefore, interaction between the POR and PER is necessary for context-guided exploratory behavior but not for associating fear with context. Our results provide evidence for the hypothesis that the POR relies on object and pattern information from the PER to encode representations of context. The association of fear with a context, however, may be supported by alternate cortical and/or subcortical pathways when PER–POR interaction is not available. Our results suggest that contextual FC may represent a special case of context-guided behavior. SIGNIFICANCE STATEMENT Representations of context are important for perception, memory, decision making, and other cognitive processes. Moreover, there is extensive evidence that the use of contextual representations to guide appropriate behavior is disrupted in neuropsychiatric and neurological disorders including developmental disorders, schizophrenia, affective disorders, and Alzheimer's disease. Many of these disorders are accompanied by changes in

Paleoenvironmental implications of taxonomic variation among δ 15 N values of chloropigments

NASA Astrophysics Data System (ADS)

Higgins, Meytal B.; Wolfe-Simon, Felisa; Robinson, Rebecca S.; Qin, Yelun; Saito, Mak A.; Pearson, Ann

2011-11-01

Natural variations in the ratios of nitrogen isotopes in biomass reflect variations in nutrient sources utilized for growth. In order to use δ 15N values of chloropigments of photosynthetic organisms to determine the corresponding δ 15N values of biomass - and by extension, surface waters - the isotopic offset between chlorophyll and biomass must be constrained. Here we examine this offset in various geologically-relevant taxa, grown using nutrient sources that may approximate ocean conditions at different times in Earth's history. Phytoplankton in this study include cyanobacteria (diazotrophic and non-diazotrophic), eukaryotic algae (red and green), and anoxygenic photosynthetic bacteria (Proteobacteria), as well as environmental samples from sulfidic lake water. Cultures were grown using N 2, NO 3-, and NH 4+ as nitrogen sources, and were examined under different light regimes and growth conditions. We find surprisingly high variability in the isotopic difference (δ 15N biomass - δ 15N chloropigment) for prokaryotes, with average values for species ranging from -12.2‰ to +11.7‰. We define this difference as ɛpor, a term that encompasses diagenetic porphyrins and chlorins, as well as chlorophyll. Negative values of ɛpor reflect chloropigments that are 15N-enriched relative to biomass. Notably, this enrichment appears to occur only in cyanobacteria. The average value of ɛpor for freshwater cyanobacterial species is -9.8 ± 1.8‰, while for marine cyanobacteria it is -0.9 ± 1.3‰. These isotopic effects group environmentally but not phylogenetically, e.g., ɛpor values for freshwater Chroococcales resemble those of freshwater Nostocales but differ from those of marine Chroococcales. Our measured values of ɛpor for eukaryotic algae (range = 4.7-8.7‰) are similar to previous reports for pure cultures. For all taxa studied, values of ɛpor do not depend on the type of nitrogen substrate used for growth. The observed environmental control of ɛpor

Disconnection of the Perirhinal and Postrhinal Cortices Impairs Recognition of Objects in Context But Not Contextual Fear Conditioning.

PubMed

Heimer-McGinn, Victoria R; Poeta, Devon L; Aghi, Krishan; Udawatta, Methma; Burwell, Rebecca D

2017-05-03

The perirhinal cortex (PER) is known to process object information, whereas the rodent postrhinal cortex (POR), homolog to the parahippocampal cortex in primates, is thought to process spatial information. A number of studies, however, provide evidence that both areas are involved in processing contextual information. In this study, we tested the hypothesis that the rat POR relies on object information received from the PER to form complex representations of context. Using three fear-conditioning (FC) paradigms (signaled, unsignaled, and renewal) and two context-guided object recognition tasks (with 3D and 2D objects), we examined the effects of crossed excitotoxic lesions to the POR and the contralateral PER. Performance of rats with crossed lesions was compared with that of rats with ipsilateral POR plus PER lesions and sham-operated rats. We found that rats with contralateral PER-POR lesions were impaired in object-context recognition but not in contextual FC. Therefore, interaction between the POR and PER is necessary for context-guided exploratory behavior but not for associating fear with context. Our results provide evidence for the hypothesis that the POR relies on object and pattern information from the PER to encode representations of context. The association of fear with a context, however, may be supported by alternate cortical and/or subcortical pathways when PER-POR interaction is not available. Our results suggest that contextual FC may represent a special case of context-guided behavior. SIGNIFICANCE STATEMENT Representations of context are important for perception, memory, decision making, and other cognitive processes. Moreover, there is extensive evidence that the use of contextual representations to guide appropriate behavior is disrupted in neuropsychiatric and neurological disorders including developmental disorders, schizophrenia, affective disorders, and Alzheimer's disease. Many of these disorders are accompanied by changes in

Porous silicon for drug delivery systems

NASA Astrophysics Data System (ADS)

Abramova, E. N.; Khort, A. M.; Yakovenko, A. G.; Kornilova, D. S.; Slipchenko, E. A.; Prokhorov, D. I.; Shvets, V. I.

2018-01-01

The article deals with main principles of the formation of porous silicon (por-Si) to produce containers for drug delivery systems. Most important por-Si characteristics to produce nanocontainers with required parameters are determined.

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

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.

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

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.

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.

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.

[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

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 .

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

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.

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.

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.

[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

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.

Moléculas orgánicas obtenidas en simulaciones experimentales del medio interestelar.

NASA Astrophysics Data System (ADS)

Muñoz-Caro, Guillermo Manuel

Las nubes moleculares son regiones de formación de estrellas, con temperaturas cinéticas entre 10-50 K y densidades de 103-106 átomos cm-3. Su materia está formada por gas y polvo interestelar. Estas partículas de polvo están cubiertas por una fina capa de hielo, de unos 0.01 μm, que contiene H2O y a menudo CO, CO2, CH3OH y NH3. El hielo es presumiblemente irradiado por fotones ultravioleta y rayos cósmicos en las zonas poco profundas de las nubes moleculares y las regiones circunestelares. En un sistema de vacío, P ˜ 10-7 mbar, simulamos la deposición de hielo a partir de 10 K y la irradiación ultravioleta por medio de una lámpara de descarga de hidrógeno activada con microondas. La evolución del hielo se observa por medio de un espectrómetro infrarrojo. De este modo es posible determinar la composición del hielo observado en el medio interestelar y predecir la presencia de moléculas aún no detectadas en el espacio, que han sido producto del procesamiento del hielo en nuestros experimentos. También es posible calentar el sistema hasta temperatura ambiente para sublimar el hielo depositado. Cuando el hielo ha sido previamente irradiado, se observa un residuo compuesto por moléculas orgánicas complejas, algunas prebióticas, como varios ácidos carboxílicos, aminas, amidas, ésteres y en menor proporción moléculas heterocíclicas y aminoácidos. Algunas de estas moléculas podrían detectarse en estado gaseoso por medio de observaciones milimétricas y de radio. También podrían estar presentes en el polvo cometario, cuyo análisis químico está planeado por las misiones Stardust y Rosetta. Mientras tanto, nuestro grupo está llevando a cabo el análisis de partículas de polvo interplanetario (IDPs), algunas de las cuales pueden ser de origen cometario. Al igual que ocurre con los productos obtenidos por irradiación del hielo en nuestros experimentos, algunas IDPs son ricas en material orgánico que contiene oxígeno.

PubMed

Scotta, Ana Verónica; Bongiovanni, Guillermina Azucena; Soria, Elio Andrés

2018-03-21

Antecedentes: Clorpirifos es un pesticida altamente tóxico, que puede producir inmunotoxicidad con efectos deletéreos sobre la salud a nivel mundial. Por otro lado, las plantas americanas pueden tener derivados con actividad protectora e inmunoestimulante. Por lo tanto, debe evaluarse el potencial de estas plantas frente a clorpirifos. Objetivo: Identificar extractos acuosos bioactivos de Lantana grisebachii (LG), Aspidosperma quebracho-blanco (AQ), Peumus boldus (PB), e Ilex paraguariensis (IP), contra la toxicidad de clorpirifos sobre esplenocitos de hembras Balb/c. Materiales y Métodos: Esplenocitos fueron tratados in vitro por 72 horas con 0-35 µg/mL de clorpirifos, 0-100 µg/mL de cada extracto (LG, AQ, PB, IP) y 0-5 µg/mL de concanavalina A. Luego, se midió y analizó estadísticamente viabilidad y muerte celular (tinciones de resazurina y yoduro de propidio), hidroperóxidos, lipoperóxidos (ensayos basados en naranja de xilenol), actividad de la ?-glutamiltranspeptidasa (método de Szasz). Resultados: Clorpirifos redujo la viabilidad celular de forma dosis dependiente, lo que fue contrarrestado por AQ e IP, los que fueron menos activos en las células inducibles por concanavalina A (p<0,05). La toxicidad por clorpirifos implicó la inducción de la ?-glutamiltranspeptidasa con la consecuente reducción de los peróxidos, mientras que AQ y principalmente IP antagonizaron dichas respuestas (p<0,05). Conclusiones: Los extractos de Ilex paraguariensis y Aspidosperma quebracho-blanco protegieron in vitro a los esplenocitos frente a clorpirifos. Este efecto dependió del tipo celular, dado que las células inducibles por concanavalina A fueron más susceptibles a este tóxico.

Sistemas de transporte inteligentes en cruces fronterizos internacionales : un estudio abarcador : facilitando el comercio y mejorando la seguridad en el transporte

DOT National Transportation Integrated Search

2001-04-01

El Programa de Permisosen Fronteras Internacionales (IBC por sus siglas en ingls) fue iniciado bajo la previsin del Acta de Eficiencia de Transporte Terrestre Intermodal (ISTEA por sus siglas en ingls) en 1991. El programa fue concebido origina...

Evaluation of a 3year intervention to increase adoption of safer nursery crop production practices.

PubMed

Chapman, Larry J; Newenhouse, Astrid C; Karsh, Ben-Tzion

2010-01-01

We conducted a 3year intervention to increase awareness and adoption of eight more profitable nursery crop production practices that reduced certain traumatic and musculoskeletal injury hazards. We disseminated information to nursery managers across seven states using information channels they were known to rely on (e.g. trade publications, public events, university Extension, other managers). We evaluated rolling, independent, probability samples (n=1200) with mail questionnaires before the intervention and after each of 3 intervention years. We also evaluated samples (n=250) from a comparison group of New Zealand nursery managers. The intervention was associated with increased awareness of four of the eight practices among US managers after year 3 compared to their baseline: zippers (20 vs. 32%, p=0.000), stools (11 vs. 22%, p=0.001), pruners (29 vs. 40%, p=0.014), and tarps (24 vs. 33%, p=0.009). There were no changes in adoption. New Zealand manager awareness was increased for hoes after year 2 compared to their baseline (35 vs. 52%, p=0.010). A modest, regionwide information dissemination intervention was associated with increased awareness, but not adoption.

Nuevos sistemas de frecuencia intermedia para el IAR

NASA Astrophysics Data System (ADS)

Olalde, J. C.; Perilli, D.; Larrarte, J. J.

Se presenta el diagrama en bloques de los nuevos sistemas de Frecuencia Intermedia para los dos radiómetros instalados en el IAR. Entre las características más importantes del sistema podemos mencionar la posibilidad de conectar cualquiera de las dos antenas a los ``backend" disponibles: analizador espectral de alta resolución (META II) de 0,05 Hz, autocorrelador de 1008 canales y contínuo. Se incorporan al sistema nuevos sintetizadores de frecuencia implementados con PLL y la moderna técnica de síntesis digital directa. Por último, el conjunto del sistema es susceptible de ser configurado por las computadoras de adquisición de datos, supervisadas por otra, que entrega el estado de funcionamiento actual y evita la selección de configuraciones incorrectas por parte del usuario.

Novel approach for III-N on Si (111) templates fabrication by low-temperature PA MBE using porous Si layer

NASA Astrophysics Data System (ADS)

Zolotukhin, D.; Seredin, P.; Lenshin, A.; Goloshchapov, D.; Mizerov, A.

2017-11-01

We report on successful growth of GaN nanorods by low-temperature plasma-assisted molecular beam epitaxy on a Si(111) substrate with and without preformed thin porous Si layer (por-Si). The deposited GaN initially forms islands which act as a seed for the wires. Porous structure of the por-Si layer helps to control nucleation islands sizes and achieve homogeneous distribution of the nanorods diameters. In addition 850 nm-thick crack-free GaN layer was formed on Si(111) substrate with preformed por-Si layer.

Microbicidas Metodo de Prevencion en VIH/SIDA Controlado por Mujeres

PubMed Central

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

2016-01-01

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

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

PubMed

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

2009-03-01

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

Decade of Venezuela’s President Hugo Chavez, Por Ahora

DTIC Science & Technology

2009-04-01

minor production source of opium and cocoa , Venezuela is important in the transit of narcotics between Columbia and the US. 60 61 Mindful of this, a...took over.91 To highlight the significance of oil to Venezuela , in 2006, oil represented 91% of its exports compared to 80% five years earlier.92...methodology to examine the last ten years of Venezuelas Hugo Chavez presidency and the significant aspects in terms of US security. The paper contents

On the Use of "Por" Plus Agent with "Se" Construction

ERIC Educational Resources Information Center

De Mello, George

1978-01-01

Two explanations for the role of "se" in such constructions as "Se construyen casas" are given by grammarians; one states that it is a passive interpretation ("Houses are built"), the other advocates an impersonal interpretation ("One builds houses"). Different views are presented and analyzed. (Author/NCR)

Time spent traveling in motor vehicles and its association with overweight and abdominal obesity in Colombian adults who do not own a car.

PubMed

Flórez Pregonero, Alberto; Gómez, Luis Fernando; Parra, Diana C; Cohen, Daniel D; Arango Paternina, Carlos Mario; Lobelo, Felipe

2012-06-01

This study examined associations between time spent traveling in motor vehicles per week (TSTMV) and BMI and abdominal obesity (AO) among Colombian adults residing in urban areas who do not own car. Secondary data analysis of the 2005 National Nutrition Survey of Colombia was conducted. TSTMV was assessed using the long International Physical Activity Questionnaire. Body composition was measured in 7900 adults. Polytomous and binary logistic regressions were conducted, stratified by gender and adjusted for confounders, including physical activity (PA). Forty-two percent of participants were either overweight or obese according to their BMI, and 22.4% had AO. Males in the middle (10 to 149 min) and highest (>150 min) TSTMV tertiles were more likely to be overweight (POR=1.58, 95% CI=1.13-2.21 and POR=1.55, 95% CI=1.12-2.15 respectively, p-trend=0.012), obese (POR=2.39, 95% CI=1.43-3.99 and POR=1.93, 95% CI=1.22-3.08 respectively, p trend=0.019) and to have AO (POR=1.81, 95% CI=1.18-2.78 and POR=1.73, 95% CI=1.18-2.54 respectively, p-trend=0.009). Associations were not significant in females. TSTMV was positively associated with overweight and AO in adult Colombian males even after adjusting for PA. These findings highlight the potential deleterious health effects of sedentary behaviors such as prolonged traveling time, independently of having met PA recommendations. Copyright © 2012 Elsevier Inc. All rights reserved.

[Not Available].

PubMed

San Mauro Martin, Ismael; Mendive Dubourdieu, Paula; Paredes Barato, Víctor; Garicano Vilar, Elena

2016-07-19

Introducción: la tradición de la comida picante desempeña un papel muy importante en el gusto por este tipo de comida y su tolerancia. Las preferencias alimentarias muestran influencia genética y ambiental.Objetivos: estudiar la tolerancia y el gusto por el picante de tres poblaciones, y la influencia hereditaria y del ambiente.Métodos:se realizó una encuesta a 522 sujetos, de tres continentes (Asia, Europa y Latinoamérica) en tres idiomas (español, inglés y chino) a través de Internet. Se realizaron preguntas acerca de la tolerancia al picante, el gusto por los alimentos picantes, su uso, la edad de comienzo de consumo, el gusto del padre y de la madre y si ella lo consumía durante el embarazo y/o lactancia.Resultados: existe diferencia entre el gusto por el picante del hijo y el sexo (p < 0,001), la tolerancia (p < 0,001) y, solo en el sexo femenino, el gusto de la madre por el picante (p < 0,001), su consumo durante el embarazo (p < 0,001) y la lactancia (p = 0,005) y el gusto del padre por el picante (p = 0,003). Existe correlación entre el continente de residencia (p = 0,007) y de nacimiento (p = 0,012) y la tolerancia a los alimentos picantes.Conclusión: la influencia de los progenitores, el género y la composición corporal se relacionaron con gustos y tolerancias diferentes.

Sunburn and sun-protective behaviors among adults with and without previous nonmelanoma skin cancer: a population-based study

PubMed Central

Fischer, Alexander H.; Wang, Timothy S.; Yenokyan, Gayane; Kang, Sewon; Chien, Anna L.

2016-01-01

Background Individuals with previous nonmelanoma skin cancer (NMSC) are at increased risk for subsequent skin cancer, and should therefore limit UV exposure. Objective To determine whether individuals with previous NMSC engage in better sun protection than those with no skin cancer history. Methods We pooled self-reported data (2005 and 2010 National Health Interview Surveys) from US non-Hispanic white adults (758 with and 34,161 without previous NMSC). We calculated adjusted prevalence odds ratios (aPOR) and 95% confidence intervals (95% CI), taking into account the complex survey design. Results Individuals with previous NMSC versus no history of NMSC had higher rates of frequent use of shade (44.3% versus 27.0%; aPOR=1.41; 1.16–1.71), long sleeves (20.5% versus 7.7%; aPOR=1.55; 1.21–1.98), a wide-brimmed hat (26.1% versus 10.5%; aPOR=1.52; 1.24–1.87), and sunscreen (53.7% versus 33.1%; aPOR=2.11; 95% CI=1.73–2.59), but did not have significantly lower odds of recent sunburn (29.7% versus 40.7%; aPOR=0.95; 0.77–1.17). Among subjects with previous NMSC, recent sunburn was inversely associated with age, sun avoidance, and shade but not sunscreen. Limitations Self-reported cross-sectional data and unavailable information quantifying regular sun exposure. Conclusion Physicians should emphasize sunburn prevention when counseling patients with previous NMSC, especially younger adults, focusing on shade and sun avoidance over sunscreen. PMID:27198078

Factors associated with anemia in refugee children.

PubMed

Hassan, K; Sullivan, K M; Yip, R; Woodruff, B A

1997-11-01

A nutrition survey was performed in 1990 among children 6 through 35 mo of age living in Palestinian refugee camps in Syria, Jordan, the West Bank, Gaza Strip and Lebanon. Overall, 67% [95% confidence interval (CI): 66, 68] were anemic (hemoglobin <110 g/L), ranging from 54% in the West Bank to 75% in Syria. The following factors were significantly associated with anemia in one or more of three age groups (6-11.9, 12-23.9 and 24-35.9 mo) by logistic regression: living in Syria, Lebanon, or Gaza [with prevalence odds ratios (POR) in the range of 1.4-2.6 depending on the age group and area, relative to children living in Jordan]; never having been breast-fed (POR = 1.7); male sex (POR = 1.2); maternal illiteracy (POR = 1.4 relative to those with >/=6 y of education); having a recent (within 2 wk) or current episode of fever or diarrhea; and stunting. Recent or current illness and stunting interacted in two age groups with the general trend of stunted children with recent or current illness having high POR. Early childhood anemia is associated with factors reflecting poor socioeconomic status and recent diarrheal and febrile illnesses in Palestinian refugee camps.

Risk of specific congenital abnormalities in offspring of women with diabetes.

PubMed

Nielsen, G L; Nørgard, B; Puho, E; Rothman, K J; Sørensen, H T; Czeizel, A E

2005-06-01

To assess the extent to which the increased risk of congenital abnormalities seen in women with pre-gestational insulin-treated diabetes mellitus is unspecific or related to the embryology of specific organs. Cases with congenital abnormalities were identified in the population-based Hungarian Congenital Abnormality Registry from 1980 to 1996 with two newborn children without congenital abnormality selected from the National Birth Registry as controls. We adjusted for parity, maternal age, and use of antipsychotic drugs. Among cases we found 63/22,843 babies with maternal diabetes compared with 50/38,151 in the control group [adjusted prevalence odds ratio (POR) 2.1; 95% CI 1.5-3.1]. The association was strongest for the following congenital abnormalities: renal agenesis (POR: 14.8; 95% CI, 3.5-62.1), obstructive congenital abnormalities of the urinary tract (POR: 4.3; 95% CI, 1.3-13.9), cardiovascular congenital abnormalities (POR: 3.4; 95% CI, 2.0-5.7), and multiple congenital abnormalities (POR: 5.0; 95% CI, 2.4-10.2). These data indicate that pre-gestational maternal diabetes is associated with strong teratogenic effects on the kidney, urinary tract, and heart, and strongly associated with multiple congenital abnormalities. We found no material association between diabetes and spinal congenital abnormalities and limb deficiencies.

Using MOMP typing as an epidemiological tool to investigate outbreaks caused by milkborne Campylobacter jejuni isolates in California

USDA-ARS?s Scientific Manuscript database

We describe using major outer membrane protein (MOMP) typing as a screen to compare the C. jejuni porA gene sequences of clinical outbreak strains from human stool with the porA sequences of dairy farm strains isolated during two milkborne campylobacteriosis outbreak investigations in California. Th...

Unidades generadoras de energía eléctrica para servicios públicos: Revocación del Plan de Energía Limpia: Propuesta

EPA Pesticide Factsheets

La EPA está proponiendo la revocación del Plan de Energía Limpia (CPP, por sus siglas en inglés) – después de completar una revisión minuciosa como fue dictaminada por la Orden Ejecutiva de Independencia Energética.

78 FR 29322 - Silicon Metal From the People's Republic of China: Final Results and Final No Shipments...

Federal Register 2010, 2011, 2012, 2013, 2014

2013-05-20

... People's Republic of China: Final Results and Final No Shipments Determination of Antidumping Duty... the People's Republic of China (``PRC'').\\1\\ The period of review (``POR'') is June 1, 2011, through... any reviewable transactions during the POR. \\1\\ See Silicon Metal From the People's Republic of China...

77 FR 28570 - Honey From Argentina: Extension of Time Limit for the Final Results of Antidumping Duty...

Federal Register 2010, 2011, 2012, 2013, 2014

2012-05-15

... DEPARTMENT OF COMMERCE International Trade Administration [A-357-812] Honey From Argentina... administrative review for the 2009-2010 period of review (POR) of honey from Argentina. See Honey From Argentina... producers/exporters of honey from Argentina during the POR.\\1\\ \\1\\ See Preliminary Results for a detailed...

El nuevo panorama de la Dinámica Galáctica

NASA Astrophysics Data System (ADS)

Pivovaroff, Michael James

En general, la tendencia imperante en Dinámica Galáctica ha sido considerar que los movimientos estelares son básicamente regulares y que el caos no tiene mayor relevancia en los sistemas estelares. Sin embargo, en el último lustro se vienen acumulando pruebas de la importancia del movimiento caótico en ciertos sistemas estelares que existen en la naturaleza. Por una parte, sobre todo el grupo de David Merritt, lo ha mostrado en los casos de galaxias elípticas con concentraciones centrales de materia; por otra parte, en nuestro propio grupo, lo hemos mostrado para el caso de los satélites galácticos. Las consecuencias de estos hallazgos son tanto de tipo técnico, por la necesidad de construir modelos que contengan órbitas caóticas, como astrofísico, por los efectos del caos sobre la estacionariedad y evolución de los sistemas estelares en los que se presenta.

Tyrosine oxidation in heme oxygenase: examination of long-range proton-coupled electron transfer.

PubMed

Smirnov, Valeriy V; Roth, Justine P

2014-10-01

Heme oxygenase is responsible for the degradation of a histidine-ligated ferric protoporphyrin IX (Por) to biliverdin, CO, and the free ferrous ion. Described here are studies of tyrosyl radical formation reactions that occur after oxidizing Fe(III)(Por) to Fe(IV)=O(Por(·+)) in human heme oxygenase isoform-1 (hHO-1) and the structurally homologous protein from Corynebacterium diphtheriae (cdHO). Site-directed mutagenesis on hHO-1 probes the reduction of Fe(IV)=O(Por(·+)) by tyrosine residues within 11 Å of the prosthetic group. In hHO-1, Y58· is implicated as the most likely site of oxidation, based on the pH and pD dependent kinetics. The absence of solvent deuterium isotope effects in basic solutions of hHO-1 and cdHO contrasts with the behavior of these proteins in the acidic solution, suggesting that long-range proton-coupled electron transfer predominates over electron transfer.

Genetic variations in NADPH-CYP450 oxidoreductase in a Czech Slavic cohort.

PubMed

Tomková, Mária; Panda, Satya Prakash; Šeda, Ondřej; Baxová, Alice; Hůlková, Martina; Siler Masters, Bettie Sue; Martásek, Pavel

2015-01-01

Estimating polymorphic allele frequencies of the NADPH-CYP450 oxidoreductase (POR) gene in a Czech Slavic population. The POR gene was analyzed in 322 individuals from a control cohort by sequencing and high resolution melting analysis. We identified seven unreported SNP genetic variations, including two SNPs in the 5' flanking region (g.4965C>T and g.4994G>T), one intronic variant (c.1899-20C>T), one synonymous SNP (p.20Ala=) and three nonsynonymous SNPs (p.Thr29Ser, p.Pro384Leu and p.Thr529Met). The p.Pro384Leu variant exhibited reduced enzymatic activities compared with wild-type. New POR variant identification indicates the number of uncommon variants might be specific for each subpopulation being investigated, particularly germane to the singular role that POR plays in providing reducing equivalents to all CYP450s in the endoplasmic reticulum. Original submitted 15 September 2014; Revision submitted 17 November 2014.

Observational study to calculate addictive risk to opioids: a validation study of a predictive algorithm to evaluate opioid use disorder.

PubMed

Brenton, Ashley; Richeimer, Steven; Sharma, Maneesh; Lee, Chee; Kantorovich, Svetlana; Blanchard, John; Meshkin, Brian

2017-01-01

Opioid abuse in chronic pain patients is a major public health issue, with rapidly increasing addiction rates and deaths from unintentional overdose more than quadrupling since 1999. This study seeks to determine the predictability of aberrant behavior to opioids using a comprehensive scoring algorithm incorporating phenotypic risk factors and neuroscience-associated single-nucleotide polymorphisms (SNPs). The Proove Opioid Risk (POR) algorithm determines the predictability of aberrant behavior to opioids using a comprehensive scoring algorithm incorporating phenotypic risk factors and neuroscience-associated SNPs. In a validation study with 258 subjects with diagnosed opioid use disorder (OUD) and 650 controls who reported using opioids, the POR successfully categorized patients at high and moderate risks of opioid misuse or abuse with 95.7% sensitivity. Regardless of changes in the prevalence of opioid misuse or abuse, the sensitivity of POR remained >95%. The POR correctly stratifies patients into low-, moderate-, and high-risk categories to appropriately identify patients at need for additional guidance, monitoring, or treatment changes.

Transmission scenarios of major vector-borne diseases in Colombia, 1990-2016.

PubMed

Padilla, Julio César; Lizarazo, Fredy Eberto; Murillo, Olga Lucía; Mendigaña, Fernando Antonio; Pachón, Edwin; Vera, Mauricio Javier

2017-03-29

Introducción. Las enfermedades transmitidas por vectores representan más de 17 % de todas las enfermedades infecciosas y causan anualmente un millón de defunciones a nivel mundial. En Colombia, la malaria, el dengue, la enfermedad de Chagas y las leishmaniasis son condiciones endemoepidémicas persistentes.Objetivo. Determinar el comportamiento epidemiológico de las enfermedades transmitidas por vectores en zonas urbanas y rurales de Colombia entre 1990 y 2016.Materiales y métodos. Se hizo un estudio descriptivo del comportamiento epidemiológico de las principales enfermedades transmitidas por vectores en zonas urbanas y rurales de Colombia entre 1990 y 2016, con la información proveniente de fuentes oficiales secundarias.Resultados. En el periodo estudiado se registraron 5'360.134 casos de enfermedades transmitidas por vectores, de los cuales 54,7 % fueron de malaria y 24,9 % de dengue. Estos casos concentraron el 80 % de la carga acumulada de casos de enfermedades transmitidas por vectores. Las medianas de las tasas de incidencia fueron 1.371 y 188 por 100.00 habitantes para malaria y dengue, respectivamente. Además, los casos de chikungunya fueron 774.831 desde su introducción en el 2014 y, los de Zika, 117.674 desde su aparición en 2015. En las zonas rurales predominaron las enfermedades parasitarias transmitidas por vectores como la malaria, las leishmaniasis y la enfermedad de Chagas. A nivel urbano, predominaron el dengue, el chikungunya y el Zika.Conclusiones. La transmisión en Colombia de estas enfermedades es persistente en las zonas urbanas y en las rurales, y de tipo endemoepidémico en los casos de malaria, dengue, leishmaniasis y enfermedad de Chagas. Dicha transmisión se ha dado de manera focalizada y con patrones variables de intensidad. Asimismo, se mantienen las condiciones que han favorecido la transmisión emergente de nuevas arbovirosis.

76 FR 26241 - Certain Frozen Warmwater Shrimp From Thailand: Notice of Court Decision Not in Harmony With Final...

Federal Register 2010, 2011, 2012, 2013, 2014

2011-05-06

... Shrimp From Thailand: Notice of Court Decision Not in Harmony With Final Results of Administrative Review... Thailand covering the period of review (POR) of February 1, 2006, through January 31, 2007. DATES... administrative review of certain frozen warmwater shrimp from Thailand covering the POR of February 1, 2006...

Proyecto Energético Palmdale; Decisión del Permiso Final

EPA Pesticide Factsheets

Proyecto Energético Palmdale: EPA Región 9 por el presente emite aviso de su decisión final, el cumplimiento con la Ley Federal de Aire Limpio, para la construcción de una planta generadora de electricidad de ciclo combinado y alimentada por gas natural

PubMed

Escandón-Nagel, Neli

2016-11-29

Introducción: si bien el Trastorno por Atracón es un trastorno de la conducta alimentaria que  no se da exclusivamente en personas obesas, es más común en este grupo que en sujetos con normopeso, sin embargo no todas las personas con malnutrición por exceso presentan Trastorno por Atracón. Objetivo: identificar el conocimiento actual respecto a las diferencias y semejanzas existentes entre personas con malnutrición por exceso con y sin Trastorno por Atracón.Método: para lograr el objetivo anterior, se realizó una revisión de artículos científicos en torno al tema.Resultados: primero se analizó la comorbilidad psicopatológica en obesidad y después se detectaron similitudes y diferencias entre los grupos de interés, tanto en sintomatología general, como así también en sintomatología de la conducta alimentaria. Además, se identificaron algunos aspectos controversiales, en que existe evidencia contradictoria respecto a la comparación intergrupal.Conclusión: de esta revisión se concluye que en el estudio de la obesidad se hace necesario conocer en mayor profundidad las características del subgrupo de pacientes que además presenta Trastorno por Atracón,  ya que estas personas poseen características distintivas cuyo conocimiento permitirá ofrecer tratamientos integrales más adecuados a las necesidades de los pacientes, lo que posibilitará, en consecuencia, diseñar intervenciones más eficaces.

[Not Available].

PubMed

Latorre-Román, Pedro Ángel; Martínez-López, Emilio José; Ruiz-Ariza, Alberto; Izquierdo-Rus, Tomás; Salas-Sánchez, Jesús; García-Pinillos, Felipe

2016-06-30

Objetivo: el objetivo de este estudio es evaluar las propiedades psicométricas del cuestionario de disfrute por el ejercicio físico (PACES) en adolescentes con sobrepeso y obesidad.Métodos: participaron 139 adolescentes con sobrepeso y obesidad: 91 niñas (edad = 13,85 ± 1,92 años; índice de masa corporal [IMC] = 26,83 ± 3,16 kg/m2) y 48 niños (edad = 14,29 ± 1,62 años; IMC = 28,31 ± 3,74 kg/m2). Para analizar el disfrute por la actividad física se empleó el cuestionario Physical Activity Enjoyment Scale (PACES).Resultados: los resultados del análisis factorial exploratorio y confirmatorio han mostrado una estructura de dos factores; a su vez el PACES presenta una consistencia interna muy alta (alfa de Cronbach = 0,908). La fiabilidad test-retest indica una buena concordancia temporal (Spearman rho = 0,815, p < 0,001). Por último, el PACES en adolescentes con sobrepeso y obesidad manifiesta una validez convergente adecuada con la intencionalidad de ser activo (MIFA), la atracción por la actividad física (CAPA), la resistencia cardiorrespiratoria y los pliegues suprailiacoy subescapular.Conclusión: los resultados confirman que el PACES es una medida válida y fiable del disfrute por la actividad física en adolescentes con sobrepeso y obesidad. El disfrute por la actividad física puede ser relevante en la participación de los adolescentes con sobrepeso y obesidad en estas actividades.

LIL3, a Light-Harvesting Complex Protein, Links Terpenoid and Tetrapyrrole Biosynthesis in Arabidopsis thaliana1[OPEN

PubMed Central

Rothbart, Maxi; Herbst, Josephine; Wittmann, Daniel; Gruhl, Kirsten

2017-01-01

The LIL3 protein of Arabidopsis (Arabidopsis thaliana) belongs to the light-harvesting complex (LHC) protein family, which also includes the light-harvesting chlorophyll-binding proteins of photosystems I and II, the early-light-inducible proteins, PsbS involved in nonphotochemical quenching, and the one-helix proteins and their cyanobacterial homologs designated high-light-inducible proteins. Each member of this family is characterized by one or two LHC transmembrane domains (referred to as the LHC motif) to which potential functions such as chlorophyll binding, protein interaction, and integration of interacting partners into the plastid membranes have been attributed. Initially, LIL3 was shown to interact with geranylgeranyl reductase (CHLP), an enzyme of terpene biosynthesis that supplies the hydrocarbon chain for chlorophyll and tocopherol. Here, we show another function of LIL3 for the stability of protochlorophyllide oxidoreductase (POR). Multiple protein-protein interaction analyses suggest the direct physical interaction of LIL3 with POR but not with chlorophyll synthase. Consistently, LIL3-deficient plants exhibit substantial loss of POR as well as CHLP, which is not due to defective transcription of the POR and CHLP genes but to the posttranslational modification of their protein products. Interestingly, in vitro biochemical analyses provide novel evidence that LIL3 shows high binding affinity to protochlorophyllide, the substrate of POR. Taken together, this study suggests a critical role for LIL3 in the organization of later steps in chlorophyll biosynthesis. We suggest that LIL3 associates with POR and CHLP and thus contributes to the supply of the two metabolites, chlorophyllide and phytyl pyrophosphate, required for the final step in chlorophyll a synthesis. PMID:28432258

Sunburn and sun-protective behaviors among adults with and without previous nonmelanoma skin cancer (NMSC): A population-based study.

PubMed

Fischer, Alexander H; Wang, Timothy S; Yenokyan, Gayane; Kang, Sewon; Chien, Anna L

2016-08-01

Individuals with previous nonmelanoma skin cancer (NMSC) are at increased risk for subsequent skin cancer, and should therefore limit ultraviolet exposure. We sought to determine whether individuals with previous NMSC engage in better sun protection than those with no skin cancer history. We pooled self-reported data (2005 and 2010 National Health Interview Surveys) from US non-Hispanic white adults (758 with and 34,161 without previous NMSC). We calculated adjusted prevalence odds ratios (aPOR) and 95% confidence intervals (CI), taking into account the complex survey design. Individuals with previous NMSC versus no history of NMSC had higher rates of frequent use of shade (44.3% vs 27.0%; aPOR 1.41; 95% CI 1.16-1.71), long sleeves (20.5% vs 7.7%; aPOR 1.55; 95% CI 1.21-1.98), a wide-brimmed hat (26.1% vs 10.5%; aPOR 1.52; 95% CI 1.24-1.87), and sunscreen (53.7% vs 33.1%; aPOR 2.11; 95% CI 1.73-2.59), but did not have significantly lower odds of recent sunburn (29.7% vs 40.7%; aPOR 0.95; 95% CI 0.77-1.17). Among those with previous NMSC, recent sunburn was inversely associated with age, sun avoidance, and shade but not sunscreen. Self-reported cross-sectional data and unavailable information quantifying regular sun exposure are limitations. Physicians should emphasize sunburn prevention when counseling patients with previous NMSC, especially younger adults, focusing on shade and sun avoidance over sunscreen. Copyright © 2016 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

LIL3, a Light-Harvesting Complex Protein, Links Terpenoid and Tetrapyrrole Biosynthesis in Arabidopsis thaliana.

PubMed

Hey, Daniel; Rothbart, Maxi; Herbst, Josephine; Wang, Peng; Müller, Jakob; Wittmann, Daniel; Gruhl, Kirsten; Grimm, Bernhard

2017-06-01

The LIL3 protein of Arabidopsis ( Arabidopsis thaliana ) belongs to the light-harvesting complex (LHC) protein family, which also includes the light-harvesting chlorophyll-binding proteins of photosystems I and II, the early-light-inducible proteins, PsbS involved in nonphotochemical quenching, and the one-helix proteins and their cyanobacterial homologs designated high-light-inducible proteins. Each member of this family is characterized by one or two LHC transmembrane domains (referred to as the LHC motif) to which potential functions such as chlorophyll binding, protein interaction, and integration of interacting partners into the plastid membranes have been attributed. Initially, LIL3 was shown to interact with geranylgeranyl reductase (CHLP), an enzyme of terpene biosynthesis that supplies the hydrocarbon chain for chlorophyll and tocopherol. Here, we show another function of LIL3 for the stability of protochlorophyllide oxidoreductase (POR). Multiple protein-protein interaction analyses suggest the direct physical interaction of LIL3 with POR but not with chlorophyll synthase. Consistently, LIL3-deficient plants exhibit substantial loss of POR as well as CHLP, which is not due to defective transcription of the POR and CHLP genes but to the posttranslational modification of their protein products. Interestingly, in vitro biochemical analyses provide novel evidence that LIL3 shows high binding affinity to protochlorophyllide, the substrate of POR. Taken together, this study suggests a critical role for LIL3 in the organization of later steps in chlorophyll biosynthesis. We suggest that LIL3 associates with POR and CHLP and thus contributes to the supply of the two metabolites, chlorophyllide and phytyl pyrophosphate, required for the final step in chlorophyll a synthesis. © 2017 American Society of Plant Biologists. All Rights Reserved.

Faecal calprotectin and magnetic resonance imaging in detecting Crohn's disease endoscopic postoperative recurrence.

PubMed

Baillet, Pierre; Cadiot, Guillaume; Goutte, Marion; Goutorbe, Felix; Brixi, Hedia; Hoeffel, Christine; Allimant, Christophe; Reymond, Maud; Obritin-Guilhen, Hélène; Magnin, Benoit; Bommelaer, Gilles; Pereira, Bruno; Hordonneau, Constance; Buisson, Anthony

2018-02-07

To assess magnetic resonance imaging (MRI) and faecal calprotectin to detect endoscopic postoperative recurrence in patients with Crohn's disease (CD). From two tertiary centers, all patients with CD who underwent ileocolonic resection were consecutively and prospectively included. All the patients underwent MRI and endoscopy within the first year after surgery or after the restoration of intestinal continuity [median = 6 mo (5.0-9.3)]. The stools were collected the day before the colonoscopy to evaluate faecal calprotectin level. Endoscopic postoperative recurrence (POR) was defined as Rutgeerts' index ≥ i2b. The MRI was analyzed independently by two radiologists blinded from clinical data. Apparent diffusion coefficient (ADC) was lower in patients with endoscopic POR compared to those with no recurrence (2.03 ± 0.32 vs 2.27 ± 0.38 × 10 -3 mm²/s, P = 0.032). Clermont score (10.4 ± 5.8 vs 7.4 ± 4.5, P = 0.038) and relative contrast enhancement (RCE) (129.4% ± 62.8% vs 76.4% ± 32.6%, P = 0.007) were significantly associated with endoscopic POR contrary to the magnetic resonance index of activity (MaRIA) (7.3 ± 4.5 vs 4.8 ± 3.7; P = 0.15) and MR scoring system ( P = 0.056). ADC < 2.35 × 10 -3 mm²/s [sensitivity = 0.85, specificity = 0.65, positive predictive value (PPV) = 0.85, negative predictive value (NPV) = 0.65] and RCE > 100% (sensitivity = 0.75, specificity = 0.81, PPV = 0.75, NPV = 0.81) were the best cut-off values to identify endoscopic POR. Clermont score > 6.4 (sensitivity = 0.61, specificity = 0.82, PPV = 0.73, NPV = 0.74), MaRIA > 3.76 (sensitivity = 0.61, specificity = 0.82, PPV = 0.73, NPV = 0.74) and a MR scoring system ≥ MR1 (sensitivity = 0.54, specificity = 0.82, PPV = 0.70, and NPV = 0.70) demonstrated interesting performances to detect endoscopic POR. Faecal calprotectin values were significantly higher in patients with endoscopic POR (114 ± 54.5 μg/g vs 354.8 ± 432.5 μg/g; P = 0.0075). Faecal calprotectin > 100 �

Faecal calprotectin and magnetic resonance imaging in detecting Crohn’s disease endoscopic postoperative recurrence

PubMed Central

Baillet, Pierre; Cadiot, Guillaume; Goutte, Marion; Goutorbe, Felix; Brixi, Hedia; Hoeffel, Christine; Allimant, Christophe; Reymond, Maud; Obritin-Guilhen, Hélène; Magnin, Benoit; Bommelaer, Gilles; Pereira, Bruno; Hordonneau, Constance; Buisson, Anthony

2018-01-01

AIM To assess magnetic resonance imaging (MRI) and faecal calprotectin to detect endoscopic postoperative recurrence in patients with Crohn’s disease (CD). METHODS From two tertiary centers, all patients with CD who underwent ileocolonic resection were consecutively and prospectively included. All the patients underwent MRI and endoscopy within the first year after surgery or after the restoration of intestinal continuity [median = 6 mo (5.0-9.3)]. The stools were collected the day before the colonoscopy to evaluate faecal calprotectin level. Endoscopic postoperative recurrence (POR) was defined as Rutgeerts’ index ≥ i2b. The MRI was analyzed independently by two radiologists blinded from clinical data. RESULTS Apparent diffusion coefficient (ADC) was lower in patients with endoscopic POR compared to those with no recurrence (2.03 ± 0.32 vs 2.27 ± 0.38 × 10-3 mm²/s, P = 0.032). Clermont score (10.4 ± 5.8 vs 7.4 ± 4.5, P = 0.038) and relative contrast enhancement (RCE) (129.4% ± 62.8% vs 76.4% ± 32.6%, P = 0.007) were significantly associated with endoscopic POR contrary to the magnetic resonance index of activity (MaRIA) (7.3 ± 4.5 vs 4.8 ± 3.7; P = 0.15) and MR scoring system (P = 0.056). ADC < 2.35 × 10-3 mm²/s [sensitivity = 0.85, specificity = 0.65, positive predictive value (PPV) = 0.85, negative predictive value (NPV) = 0.65] and RCE > 100% (sensitivity = 0.75, specificity = 0.81, PPV = 0.75, NPV = 0.81) were the best cut-off values to identify endoscopic POR. Clermont score > 6.4 (sensitivity = 0.61, specificity = 0.82, PPV = 0.73, NPV = 0.74), MaRIA > 3.76 (sensitivity = 0.61, specificity = 0.82, PPV = 0.73, NPV = 0.74) and a MR scoring system ≥ MR1 (sensitivity = 0.54, specificity = 0.82, PPV = 0.70, and NPV = 0.70) demonstrated interesting performances to detect endoscopic POR. Faecal calprotectin values were significantly higher in patients with endoscopic POR (114 ± 54.5 μg/g vs 354.8 ± 432.5 μg/g; P = 0.0075). Faecal

76 FR 34296 - Proposed Collection; Comment Request for Forms 1040-PR and 1040-SS

Federal Register 2010, 2011, 2012, 2013, 2014

2011-06-13

... Form 1040-PR, Planilla para la Declaraci[oacute]n de la Contribuci[oacute]n Federal sobre el Trabajo... Trabajo por Cuenta Propia (Incluyendo el Cr[eacute]dito Tributario Adicional por Hijos para Residentes... Subtitle A, and provide credit to the taxpayer's social security account. Anejo H-PR is used to compute...

77 FR 77017 - Certain Orange Juice From Brazil: Notice of Court Decision Not in Harmony With Final Results of...

Federal Register 2010, 2011, 2012, 2013, 2014

2012-12-31

..., International Trade Administration, Department of Commerce. SUMMARY: On October 24, 2012, the United States... juice (OJ) from Brazil covering the period of review (POR) of March 1, 2008, through February 28, 2009... administrative review of OJ from Brazil covering the POR of March 1, 2008, through February 28, 2009. See Certain...

La EPA ayuda a restaurar el laboratorio de ciencias de Puerto Rico y las capacidades de monitorear la calidad del aire

EPA Pesticide Factsheets

La EPA continúa ayudando a Puerto Rico a responder tras los daños causados por los huracanes Irma y María. La EPA, conforme a una misión asignada por FEMA, y en estrecha cooperación con el gobierno de Puerto Rico, se encuentra apoya

Two dimensional self-assembly zinc porphyrins and zinc phthalocyanines heterojunctions with record high power conversion efficiencies.

PubMed

Yu, Junting; Jiang, Zhou; Hao, Yifan; Zhu, Qianhong; Zhao, Mingliang; Jiang, Xue; Zhao, Jijun

2018-05-15

Compared to inorganic solar cells, the power conversion efficiencies (PCEs) of organic solar cells are much lower, but they are compensated by many merits such as lower cost, less weight, and tunable structures, making them prospective for further applications. Porphyrin and phthalocyanine are the two most significant materials for organic solar cells due to their strong light-absorbing properties and semiconductor characteristics. However, there is little research on the 2D heterojunction solar cells based on these two materials, meanwhile the PCEs of them are still low. Here we have self-assembled several 2D Zinc-porphyrins (ZnPors) and performed first-principles simulation to demonstrate their good stability, suitable light harvesting, and high charge carrier mobility. By perfectly matching lattice constants and band levels between those 2D ZnPors and our previous proposed ZnPcs, eleven type-II organic heterojunctions are constructed to further improve their charge separation capability. Those advantages endow 2D ZnPors and ZnPcs appreciable PCEs for solar cell. Among them, the theoretical PCE of 2D ZnPors/ZnPcs heterojunctions achieves as high as 19.84%, which prevails all reported organic solar cells, and even approaches the PCEs of inorganic solar cells. These results indicate that our 2D ZnPors and 2D ZnPcs are good candidate materials for future organic solar cells. © 2018 IOP Publishing Ltd.

Two dimensional self-assembly zinc porphyrin and zinc phthalocyanine heterojunctions with record high power conversion efficiencies

NASA Astrophysics Data System (ADS)

Yu, Junting; Jiang, Zhou; Hao, Yifan; Zhu, Qianhong; Zhao, Mingliang; Jiang, Xue; Zhao, Jijun

2018-06-01

Compared to inorganic solar cells, the power conversion efficiencies (PCEs) of organic solar cells are much lower, but they are compensated by many merits such as lower cost, less weight, and tunable structures, making them prospective for further applications. Porphyrin and phthalocyanine are the two most significant materials for organic solar cells due to their strong light-absorbing properties and semiconductor characteristics. However, there is little research on the 2D heterojunction solar cells based on these two materials, meanwhile the PCEs of them are still low. Here we have self-assembled several 2D zinc porphyrins (ZnPors) and performed first-principles simulation to demonstrate their good stability, suitable light harvesting, and high charge carrier mobility. By perfectly matching lattice constants and molecular energy levels between those 2D ZnPors and our previous proposed zinc phthalocyanines (ZnPcs), 11 type-II organic heterojunctions are constructed to further improve their charge separation capability. Those advantages endow 2D ZnPors and ZnPcs appreciable PCEs for solar cells. Among them, the theoretical PCE of 2D ZnPors/ZnPcs heterojunctions achieves as high as 19.84%, which exceeds all reported organic solar cells, and even approaches the PCEs of inorganic solar cells. These results indicate that our 2D ZnPors and 2D ZnPcs are good candidate materials for future organic solar cells.

78 FR 79665 - Welded Carbon Steel Standard Pipe and Tube Products From Turkey: Final Results of Antidumping...

Federal Register 2010, 2011, 2012, 2013, 2014

2013-12-31

... Pipe and Tube Products From Turkey: Final Results of Antidumping Duty Administrative Review; 2011-2012... pipe and tube products (welded pipe and tube) from Turkey.\\1\\ The period of review (POR) is May 1, 2011... during the POR.\\2\\ \\1\\ See Welded Carbon Steel Standard Pipe and Tube Products from Turkey: Preliminary...

Differentiation‐associated urothelial cytochrome P450 oxidoreductase predicates the xenobiotic‐metabolizing activity of “luminal” muscle‐invasive bladder cancers

PubMed Central

Arlt, Volker M.; Indra, Radek; Joel, Madeleine; Stiborová, Marie; Eardley, Ian; Ahmad, Niaz; Otto, Wolfgang; Burger, Maximilian; Rubenwolf, Peter; Phillips, David H.; Southgate, Jennifer

2018-01-01

Extra‐hepatic metabolism of xenobiotics by epithelial tissues has evolved as a self‐defence mechanism but has potential to contribute to the local activation of carcinogens. Bladder epithelium (urothelium) is bathed in excreted urinary toxicants and pro‐carcinogens. This study reveals how differentiation affects cytochrome P450 (CYP) activity and the role of NADPH:P450 oxidoreductase (POR). CYP1A1 and CYP1B1 transcripts were inducible in normal human urothelial (NHU) cells maintained in both undifferentiated and functional barrier‐forming differentiated states in vitro. However, ethoxyresorufin O‐deethylation (EROD) activity, the generation of reactive BaP metabolites and BaP‐DNA adducts, were predominantly detected in differentiated NHU cell cultures. This gain‐of‐function was attributable to the expression of POR, an essential electron donor for all CYPs, which was significantly upregulated as part of urothelial differentiation. Immunohistology of muscle‐invasive bladder cancer (MIBC) revealed significant overall suppression of POR expression. Stratification of MIBC biopsies into “luminal” and “basal” groups, based on GATA3 and cytokeratin 5/6 labeling, showed POR over‐expression by a subgroup of the differentiated luminal tumors. In bladder cancer cell lines, CYP1‐activity was undetectable/low in basal PORlo T24 and SCaBER cells and higher in the luminal POR over‐expressing RT4 and RT112 cells than in differentiated NHU cells, indicating that CYP‐function is related to differentiation status in bladder cancers. This study establishes POR as a predictive biomarker of metabolic potential. This has implications in bladder carcinogenesis for the hepatic versus local activation of carcinogens and as a functional predictor of the potential for MIBC to respond to prodrug therapies. PMID:29323757

Association of low dietary intake of fiber and liquids with constipation: evidence from the National Health and Nutrition Examination Survey.

PubMed

Markland, Alayne D; Palsson, Olafur; Goode, Patricia S; Burgio, Kathryn L; Busby-Whitehead, Jan; Whitehead, William E

2013-05-01

Epidemiological studies support an association of self-defined constipation with fiber and physical activity, but not liquid intake. The aims of this study were to assess the prevalence and associations of dietary fiber and liquid intake to constipation. Analyses were based on data from 10,914 adults (≥20 years) from the 2005-2008 cycles of the National Health and Nutrition Examination Surveys. Constipation was defined as hard or lumpy stools (Bristol Stool Scale type 1 or 2) as the "usual or most common stool type." Dietary fiber and liquid intake from total moisture content were obtained from dietary recall. Co-variables included: age, race, education, poverty income ratio, body mass index, self-reported general health status, chronic illnesses, and physical activity. Prevalence estimates and prevalence odds ratios (POR) were analyzed in adjusted multivariable models using appropriate sampling weights. Overall, 9,373 (85.9%) adults (4,787 women and 4,586 men) had complete stool consistency and dietary data. Constipation rates were 10.2% (95% confidence interval (CI): 9.6, 10.9) for women and 4.0% (95% CI: 3.2, 5.0) for men (P<.001). After multivariable adjustment, low liquid consumption remained a predictor of constipation among women (POR: 1.3, 95% CI: 1.0, 1.6) and men (POR: 2.4, 95% CI: 1.5, 3.9); however, dietary fiber was not a predictor. Among women, African-American race/ethnicity (POR: 1.4, 95% CI: 1.0, 1.9), being obese (POR: 0.7, 95% CI: 0.5,0.9), and having a higher education level (POR: 0.8, 95% CI: 0.7, 0.9) were significantly associated with constipation. The findings support clinical recommendations to treat constipation with increased liquid, but not fiber or exercise.

Association of Low Dietary Intake of Fiber and Liquids with Constipation: Evidence from the National Health and Nutrition Examination Survey (NHANES)

PubMed Central

Markland, Alayne D.; Palsson, Olafur; Goode, Patricia S.; Burgio, Kathryn L.; Busby-Whitehead, Jan; Whitehead, William E.

2013-01-01

Objective Epidemiological studies support an association of self-defined constipation with fiber and physical activity, but not liquid intake. The aims of this study were to assess the prevalence and associations of dietary fiber and liquid intake to constipation. Methods Analyses were based on data from 10,914 adults (≥20 years) from the 2005-2008 cycles of the National Health and Nutrition Examination Surveys (NHANES). Constipation was defined as hard or lumpy stools (Bristol Stool Scale types 1 or 2) as the “usual or most common stool type.” Dietary fiber and liquid intake from total moisture content were obtained from dietary recall. Co-variables included: age, race, education, poverty income ratio, body mass index, self-reported general health status, chronic illnesses, and physical activity. Prevalence estimates and prevalence odds ratios (POR) were analyzed in adjusted multivariable models using appropriate sampling weights. Results Overall, 9,373 (85.9%) adults (4,787 women and 4,586 men) had complete stool consistency and dietary data. Constipation rates were 10.2% (95% CI: 9.6,10.9) for women and 4.0 (95% CI: 3.2,5.0) for men (p<.001). After multivariable adjustment, low liquid consumption remained a predictor of constipation among women (POR: 1.3, 95% CI: 1.0,1.6) and men (POR: 2.4, 95% CI: 1.5,3.9); however, dietary fiber was not a predictor. Among women, African-American race/ethnicity (POR: 1.4, 95% CI: 1.0,1.9), being obese (POR: 0.7, 95% CI: 0.5,0.9), and having a higher education level (POR: 0.8, 95% CI: 0.7,0.9) were significantly associated with constipation. Conclusions The findings support clinical recommendations to treat constipation with increased liquid, but not fiber or exercise. PMID:23567352

Factors associated with the incidence of pressure ulcer during hospital stay.

PubMed

Matozinhos, Fernanda Penido; Velasquez-Melendez, Gustavo; Tiensoli, Sabrina Daros; Moreira, Alexandra Dias; Gomes, Flávia Sampaio Latini

2017-05-25

Estimating the incidence rate of pressure ulcers and verifying factors associated with this occurrence in a cohort of hospitalized patients. This is a cohort study in which the considered outcome was the time until pressure ulcer occurrence. Estimated effect of the variables on the cumulative incidence ratio of the outcome was performed using the Cox proportional hazards model. Variable selection occurred via the Logrank hypothesis test. The sample consisted of 442 adults, with 25 incidents of pressure ulcers. Patients with high scores on the Braden scale presented a higher risk of pressure ulcer incidence when compared to those classified into the low score category. These results reinforce the importance of using the Braden Scale to assist in identifying patients more likely to develop pressure ulcers. Estimar a taxa de incidência de úlcera por pressão e verificar fatores associados a essa ocorrência em uma coorte de pacientes hospitalizados. Trata-se de estudo de coorte no qual o desfecho foi a ocorrência da úlcera por pressão. A estimativa do efeito das variáveis para a proporção de incidência acumulada do desfecho foi realizada utilizando o modelo de riscos proporcionais de Cox. A seleção das variáveis ocorreu por meio do teste de hipóteses Logrank. A amostra foi composta de 442 adultos, com 25 casos incidentes de úlcera por pressão. Pacientes com altos escores na escala de Braden apresentaram maior risco de incidência de úlcera por pressão quando comparados com aqueles classificados na categoria de baixo escore. Os resultados reforçam a importância do uso da Escala de Braden para auxiliar na identificação dos pacientes com maior probabilidade de desenvolver úlcera por pressão.

Missed Opportunities for Human Immunodeficiency Virus and Syphilis Testing Among Men Who Have Sex With Men in China: A Cross-Sectional Study.

PubMed

Ong, Jason J; Fu, Hongyun; Pan, Stephen; Smith, M Kumi; Wu, Dan; Wei, Chongyi; Cao, Bolin; Ma, Wei; Yang, Ligang; Tang, Weiming; Tucker, Joseph D

2018-06-01

Men who have sex with men (MSM) are at high risk of human immunodeficiency virus (HIV)/syphilis. To inform strategies for dual testing, we describe patterns of HIV/syphilis testing, and examine factors associated with never testing for HIV/syphilis in China. An online survey (2016) was completed by MSM from 8 cities: men born biologically male, 16 years or older, and had sex with another man at least once during their lifetime. Demographic, sexual behavioral, and HIV/syphilis testing data were collected. Multivariable multinomial logistic regression identified characteristics associated with men who never tested for HIV/syphilis compared with men who ever tested for both infections. Overall, 2105 men participated. Among them, 35.1% (738/2105) never tested for HIV/syphilis, and in those ever tested for HIV, only half (54.0%, 709/1312) had tested for syphilis. Relative to men who had ever tested for both infections, those with increased probability of never testing for HIV/syphilis include non-gay sexual identity (prevalence odds ratio [POR] 1.86; 95% confidence interval [CI], 1.45-2.37), not disclosed their sexuality/sexual history with men other than their regular partner (POR, 2.22; 95% CI, 1.75-2.78]) or with health professionals (POR, 11.11; 95% CI, 7.69-14.29), no condomless sex with casual partners in the last 3 months (POR, 1.89; 95% CI, 1.37-2.56), no community engagement in sexual health (POR, 15.16; 95% CI, 9.40-24.45), and mainly met partners offline (POR, 1.49; 95% CI, 1.16-1.92). There are significant gaps in lifetime testing for HIV/syphilis among Chinese MSM. Strategies to target never testers and integrate syphilis testing within HIV testing services are urgently needed. Future opportunities include point-of-care dual test kits, and testing in China's expanding primary healthcare system.

Does open-air exposure to volatile organic compounds near a plastic recycling factory cause health effects?

PubMed

Yorifuji, Takashi; Noguchi, Miyuki; Tsuda, Toshihide; Suzuki, Etsuji; Takao, Soshi; Kashima, Saori; Yanagisawa, Yukio

2012-01-01

After a plastic reprocessing factory began to operate in August 2004, the residents around the factory in Neyagawa, Osaka, Japan, began to complain of symptoms. Therefore, we conducted an exposure assessment and a population-based epidemiological study in 2006. To assess exposure, volatile organic compounds (VOCs) and total VOCs were measured at two locations in the vicinity of the factory. In the population-based study, a total of 3,950 residents were targeted. A self-administered questionnaire was used to collect information about subjects' mucocutaneous or respiratory symptoms. Using logistic regression models, we compared the prevalence of symptoms in July 2006 by employing the farthest area from the factory as a reference, and prevalence odds ratios (PORs) and their 95% confidence intervals (CIs) were estimated. The concentration of total VOCs was higher in the vicinity of the factory. The prevalence of mucocutaneous and respiratory symptoms was the highest among the residents in the closest area to the factory. Some symptoms were significantly increased among the residents within 500 m of the factory compared with residents of an area 2800 m from the factory: e.g., sore throat (POR=3.2, 95% CI: 1.3-8.0), eye itch (POR=3.0, 95% CI: 1.5-6.0), eye discharge (POR=6.0, 95% CI: 2.3-15.9), eczema (POR=3.0, 95% CI: 1.1-7.9) and sputum (POR=2.4, 95% CI: 1.1-5.1). Despite of the limitations of this study, these results imply a possible association of open-air VOCs with mucocutaneous and respiratory symptoms. Because this kind of plasticre cycling factory only recently came into operation, more attention should be paid to the operation of plastic recycling factories in the environment.

PubMed

Dipierri, José Edgardo; Bronberg, Rubén Adrian

2017-09-08

Debido al incremento de casos de microcefalia por virus Zika en Brasil el Ministerio de Salud de Argentina recomienda incrementar la vigilancia de esta malformación. A fin de profundizar el conocimiento del comportamiento epidemiológico de microcefalia en el país se analiza la mortalidad infantil por microcefalia entre 1998-2012. Los datos proceden de la Dirección de Estadísticas e Información de Salud (DEIS). Se calculó por provincias y regiones la tasa de mortalidad infantil por microcefalia (TMI-M) y se realizó un análisis de agrupamiento a nivel departamental. Las tasas más elevadas se observaron en las regiones y provincias del norte del país. La distribución espacial de la TMI-M guarda relación con las prevalencias de microcefalia en recién nacidos. Esta distribución se relaciona con la mayor pobreza y consanguinidad del norte de la Argentina, factores sinérgicos predisponentes de la ocurrencia de malformaciones congénitas en general y de microcefalia en particular.

Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency.

PubMed

Bonamichi, Beatriz D S F; Santiago, Stella L M; Bertola, Débora R; Kim, Chong A; Alonso, Nivaldo; Mendonca, Berenice B; Bachega, Tania A S S; Gomes, Larissa G

2016-10-01

P450 oxidoreductase deficiency (PORD) is a variant of congenital adrenal hyperplasia that is caused by POR gene mutations. The POR gene encodes a flavor protein that transfers electrons from nicotinamide adenine dinucleotide phosphate (NADPH) to all microsomal cytochrome P450 type II (including 21-hydroxylase, 17α-hydroxylase 17,20 lyase and aromatase), which is fundamental for their enzymatic activity. POR mutations cause variable impairments in steroidogenic enzyme activities that result in wide phenotypic variability ranging from 46,XX or 46,XY disorders of sexual differentiation, glucocorticoid deficiency, with or without skeletal malformations similar to Antley-Bixler syndrome to asymptomatic newborns diagnosed during neonatal screening test. Little is known about the PORD long-term evolution. We described a 46,XX patient with mild atypical genitalia associated with severe bone malformation, who was diagnosed after 13 years due to sexual infantilism. She developed large ovarian cysts and late onset adrenal insufficiency during follow-up, both of each regressed after hormone replacement therapies. We also described a late surgical approach for the correction of facial hypoplasia in a POR patient.

Observational study to calculate addictive risk to opioids: a validation study of a predictive algorithm to evaluate opioid use disorder

PubMed Central

Brenton, Ashley; Richeimer, Steven; Sharma, Maneesh; Lee, Chee; Kantorovich, Svetlana; Blanchard, John; Meshkin, Brian

2017-01-01

Background Opioid abuse in chronic pain patients is a major public health issue, with rapidly increasing addiction rates and deaths from unintentional overdose more than quadrupling since 1999. Purpose This study seeks to determine the predictability of aberrant behavior to opioids using a comprehensive scoring algorithm incorporating phenotypic risk factors and neuroscience-associated single-nucleotide polymorphisms (SNPs). Patients and methods The Proove Opioid Risk (POR) algorithm determines the predictability of aberrant behavior to opioids using a comprehensive scoring algorithm incorporating phenotypic risk factors and neuroscience-associated SNPs. In a validation study with 258 subjects with diagnosed opioid use disorder (OUD) and 650 controls who reported using opioids, the POR successfully categorized patients at high and moderate risks of opioid misuse or abuse with 95.7% sensitivity. Regardless of changes in the prevalence of opioid misuse or abuse, the sensitivity of POR remained >95%. Conclusion The POR correctly stratifies patients into low-, moderate-, and high-risk categories to appropriately identify patients at need for additional guidance, monitoring, or treatment changes. PMID:28572737

[Not Available].

PubMed

Ortega, Rosa M

2016-07-19

El artículo de San Mauro y cols. profundiza en un tema de interés prioritario como es el estudio de los hábitos de ingesta de fluidos en personas de cuatro países: España, Portugal, México y Uruguay, para analizar si se cumplen (y si se conocen) las pautas de hidratación marcadas como adecuadas por organismos oficiales y, en concreto, por la EFSA. Es indudable la importancia de una correcta hidratación pues mientras que se puede vivir meses, o años, con una alimentación incorrecta, la deshidratación puede llevar a la muerte en un escaso periodo de tiempo. Por otra parte, un aporte ligeramente insuficiente de fluidos perjudica la salud, capacidad funcional y calidad de vida del individuo, por lo que debe ser evitada. Incluso algunos estudios encuentran hábitos y estilo de vida menos saludables en individuos con menor consumo de fluidos y pautas de hidratación más incorrectas.

Postinfectious bronchiolitis obliterans

PubMed

2018-06-01

La bronquiolitis obliterante es una enfermedad pulmonar crónica infrecuente y grave producto de una lesión del tracto respiratorio inferior. En nuestro país, es más frecuente observarla secundaria a una lesión viral grave, en especial, por adenovirus. La bronquiolitis obliterante se caracteriza por la oclusión parcial o total del lumen de los bronquiolos respiratorios y terminales por tejido inflamatorio y fibrosis, que produce la obstrucción crónica de la vía aérea. Este consenso discute el estado actual del conocimiento en las diferentes áreas de la bronquiolitis obliterante secundaria a una lesión infecciosa.

Mortalidade em florestas de Pinus palustris causada por tempestade de raios

Treesearch

Kenneth W. Outcalt; Jorge Paladino Corrêa de Lima; Jose Américo de Mello Filho

2002-01-01

The importance of lightning as an ignition source for the fire driven Pinus palustris ecosystem is widely recognized. Lightning also impacts this system on a smaller scale by causing individual tree mortality. The objective of this study was to determine the level of mortality due to lightning activity at the Department of Energy's Savannah...

Betavoltaic device in por-SiC/Si C-Nuclear Energy Converter

NASA Astrophysics Data System (ADS)

Akimchenko, Alina; Chepurnov, Victor; Dolgopolov, Mikhail; Gurskaya, Albina; Kuznetsov, Oleg; Mashnin, Alikhan; Radenko, Vitaliy; Radenko, Alexander; Surnin, Oleg; Zanin, George

2017-10-01

The miniature and low-power devices with long service life in hard operating conditions like the Carbon-14 beta-decay energy converters indeed as eternal resource for integrated MEMS and NEMS are considered. Authors discuss how to create the power supply for MEMS/NEMS devices, based on porous SiC/Si structure, which are tested to be used as the beta-decay energy converters of radioactive C-14 into electrical energy. This is based on the silicon carbide obtaining by self-organizing mono 3C-SiC endotaxy on the Si substrate. The new idea is the C-14 atoms including in molecules in the silicon carbide porous structure by this technology, which will increase the efficiency of the converter due to the greater intensity of electron-hole pairs generation rate in the space charge region. The synthesis of C-14 can be also performed by using the electronically controlled magneto-optic chamber.

Applying Cognitive Linguistics to Teaching the Spanish Prepositions "Por" and "Para"

ERIC Educational Resources Information Center

Lam, Yvonne

2009-01-01

L2 prepositions are traditionally taught in a non-explanatory manner by having students learn each use individually. This study examines the effectiveness of an alternative explanatory approach based on cognitive linguistics, which considers the multiple uses of a preposition as related. Consequently, learners can be shown a general schema that…

"Por Los Ojos De Madres": Latina Mothers' Understandings of College Readiness

ERIC Educational Resources Information Center

Cortez, Laura Jean; Martinez, Melissa Ann; Sáenz, Victor B.

2014-01-01

In this study, data from six focus groups with 30 Latina mothers in South Texas were analyzed utilizing a "funds of knowledge" approach to uncover their understandings of college readiness and their role in ensuring their children are college ready. Findings indicate that Latina mothers perceived college readiness in a holistic fashion,…

Intoxicação experimental por Niedenzuella stannea (Malpighiaceae) em ovinos

USDA-ARS?s Scientific Manuscript database

Niedenzuella stannea a sodium monofluoroacetate-containing plant cause of sudden death in cattle in southern Mato Grosso State. This study describes the toxicity and clinical and pathological findings of experimental poisoning by N. stannea in sheep. Fruits, mature leaves and young leaves of the pla...

Enfermedad diarreica aguda por Escherichia coli patógenas en Colombia

PubMed Central

Gómez-Duarte, Oscar G.

2014-01-01

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

Mirta Yáñez's Dystopic Vision of Havana

ERIC Educational Resources Information Center

González, Flora M.

2017-01-01

In her 2010 novel "Sangra por la herida," the Cuban novelist, poet, and essayist Mirta Yáñez constructs a panoramic view of metropolitan Havana, following the model of Latin American fiction starting in the 1980s based on a revised version of the detective novel. "Sangra por la herida" functions best as a narrative that…

Perception of recovery of households affected by 2008 Wenchuan earthquake: A structural equation model

PubMed Central

Lin, Le; Wang, Ying; Liu, Tianxue

2017-01-01

Much of the literature on recovery focuses on the economy, the physical environment and infrastructure at a macro level, which may ignore the personal experiences of affected individuals during recovery. This paper combines internal factors at a micro level and external factors at a macro level to model for understanding perception of recovery (PoR). This study focuses on areas devastated by the 2008 Wenchuan earthquake in China. With respect to three recovery-related aspects (house recovery condition (HRC), family recovery power (FRP) and reconstruction investment (RI)), structural equation modeling (SEM) was applied. It was found that the three aspects (FRP, HRC and RI) effectively explain how earthquake affected households perceive recovery. Internal factors associated with FRP contributed the most to favourable PoR, followed by external factors associated with HRC. Findings identified that for PoR the importance of active recovery within households outweighed an advantageous house recovery condition. At the same time, households trapped in unfavourable external conditions would invest more in housing recovery, which result in wealth accumulation and improved quality of life leading to a high level of PoR. In addition, schooling in households showed a negative effect on improving PoR. This research contributes to current debates around post-disaster permanent housing policy. It is implied that a one-size-fits-all policy in disaster recovery may not be effective and more specific assistance should be provided to those people in need. PMID:28854217

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

ERIC Educational Resources Information Center

Moss, Jeanette

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

Hydrocarbon oxidation by beta-halogenated dioxoruthenium(VI) porphyrin complexes: effect of reduction potential (RuVI/V) and C-H bond-dissociation energy on rate constants.

PubMed

Che, Chi-Ming; Zhang, Jun-Long; Zhang, Rui; Huang, Jie-Sheng; Lai, Tat-Shing; Tsui, Wai-Man; Zhou, Xiang-Ge; Zhou, Zhong-Yuan; Zhu, Nianyong; Chang, Chi Kwong

2005-11-18

beta-Halogenated dioxoruthenium(VI) porphyrin complexes [Ru(VI)(F(28)-tpp)O(2)] [F(28)-tpp=2,3,7,8,12,13, 17,18-octafluoro-5,10,15,20-tetrakis(pentafluorophenyl)porphyrinato(2-)] and [Ru(VI)(beta-Br(8)-tmp)O(2)] [beta-Br(8)-tmp=2,3,7,8,12,13,17,18-octabromo-5,10,15,20- tetrakis(2,4,6-trimethylphenyl)porphyrinato(2-)] were prepared from reactions of [Ru(II)(por)(CO)] [por=porphyrinato(2-)] with m-chloroperoxybenzoic acid in CH(2)Cl(2). Reactions of [Ru(VI)(por)O(2)] with excess PPh(3) in CH(2)Cl(2) gave [Ru(II)(F(20)-tpp)(PPh(3))(2)] [F(20)-tpp=5,10,15,20-tetrakis(pentafluorophenyl)porphyrinato(2-)] and [Ru(II)(F(28)-tpp)(PPh(3))(2)]. The structures of [Ru(II)(por)(CO)(H(2)O)] and [Ru(II)(por)(PPh(3))(2)] (por=F(20)-tpp, F(28)-tpp) were determined by X-ray crystallography, revealing the effect of beta-fluorination of the porphyrin ligand on the coordination of axial ligands to ruthenium atom. The X-ray crystal structure of [Ru(VI)(F(20)-tpp)O(2)] shows a Ru=O bond length of 1.718(3) A. Electrochemical reduction of [Ru(VI)(por)O(2)] (Ru(VI) to Ru(V)) is irreversible or quasi-reversible, with the E(p,c)(Ru(VI/V)) spanning -0.31 to -1.15 V versus Cp(2)Fe(+/0). Kinetic studies were performed for the reactions of various [Ru(VI)(por)O(2)], including [Ru(VI)(F(28)-tpp)O(2)] and [Ru(VI)(beta-Br(8)-tmp)O(2)], with para-substituted styrenes p-X-C(6)H(4)CH=CH(2) (X=H, F, Cl, Me, MeO), cis- and trans-beta-methylstyrene, cyclohexene, norbornene, ethylbenzene, cumene, 9,10-dihydroanthracene, xanthene, and fluorene. The second-order rate constants (k(2)) obtained for the hydrocarbon oxidations by [Ru(VI)(F(28)-tpp)O(2)] are up to 28-fold larger than by [Ru(VI)(F(20)-tpp)O(2)]. Dual-parameter Hammett correlation implies that the styrene oxidation by [Ru(VI)(F(28)-tpp)O(2)] should involve rate-limiting generation of a benzylic radical intermediate, and the spin delocalization effect is more important than the polar effect. The k(2) values for the oxidation of styrene and

JIATF-SWB: Building an Operational Bridge for the Southwest Border

DTIC Science & Technology

2011-04-12

mexican_cartels_integr.htm. (accessed 20 March 2011). 4 Office of the President. “Obtener la base de datos de Fallecimientos ocurridos por presunta rivalidad...Obtener la base de datos de Fallecimientos ocurridos por presunta rivalidad delincuencial en el periodo diciembre 2006 a diciembre 2010... basing , technical, intelligence, and training support to JIATF-SWB. 15. SUBJECT TERMS Mexico, Southwest Border, USNORTHCOM, Interagency, 16

European Command Hazardous Material Management Program

DTIC Science & Technology

2011-05-12

cause the hazard>; ES: Puede provocar cáncer <indíquese la vía de exposición si se ha demostrado concluyentemente que el peligro no se produce por...demostrado concluyentemente que el peligro no se produce por ninguna otra vía>. H302: Harmful if swallowed; ES: Nocivo en caso de ingestión. H317: May

NADPH: Protochlorophyllide Oxidoreductase-Structure, Catalytic Function, and Role in Prolamellar Body Formation and Morphogenesis

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

Timko, Michael P

2013-02-01

The biosynthesis of chlorophyll is a critical biochemical step in the development of photosynthetic vascular plants and green algae. From photosynthetic bacteria (cyanobacteria) to algae, non-vascular plants, gymnosperms and vascular plants, mechanisms have evolved for protochlorophyllide reduction a key step in chlorophyll synthesis. Protochlorophyllide reduction is carried out by both a light-dependent (POR) and light-independent (LIPOR) mechanisms. NADPH: protochlorophyllide oxidoreductase (EC 1.3.1.33, abbreviated POR) catalyzes the light-dependent reduction of protochlorophyllide (PChlide) to chlorophyllide (Chlide). In contrast, a light-independent protochlorophyllide reductase (LIPOR) involves three plastid gene products (chlL, chlN, and chlB) and several nuclear factors. Our work focused on characterization ofmore » both the POR and LIPOR catalyzed processes.« less

Transcultural adaptation of the Johns Hopkins Fall Risk Assessment Tool.

PubMed

Martinez, Maria Carmen; Iwamoto, Viviane Ernesto; Latorre, Maria do Rosário Dias de Oliveira; Noronha, Adriana Moreira; Oliveira, Ana Paula de Sousa; Cardoso, Carlos Eduardo Alves; Marques, Ifigenia Augusta Braga; Vendramim, Patrícia; Lopes, Paula Cristina; Sant'Ana, Thais Helena Saes de

2016-08-29

to perform the transcultural adaptation and content validity analysis of the Johns Hopkins Fall Risk Assessment Tool to assess both fall risk and fall-related injury risk for hospitalized elderly in Brazil. the transcultural adaptation consisted of translating the scale to Portuguese (Brazil), back-translating it into its language of origin, establishing a consensus version, and having an expert committee verify its transcultural equivalence. Content assessment was conducted by a committee of judges, ending with the calculation of the items and scales' content validity index. Nurses tested the tool. the scale's translated version went through two evaluation rounds by the judges, based on which, the items with unsatisfactory performance were changed. The content validity index for the items was ≥80.0% and the global index 97.1%. The experimental application showed the scale is user-friendly. the scale presents valid content for the assessment of fall risk and risk of fall-related injuries and is easy to use, with the potential to contribute to the proper identification of risks and the establishment of care actions. realizar a adaptação transcultural para uso no Brasil e a avaliação da validade de conteúdo da Johns Hopkins Fall Risk Assessment Tool para avaliação de risco de quedas e de danos por quedas em pacientes adultos hospitalizados. adaptação transcultural consistiu na tradução da escala para a língua portuguesa (Brasil), retrotradução para a língua de origem, versão de consenso e análise da equivalência transcultural por um comitê de especialistas. A avaliação do conteúdo foi realizada por meio de um comitê de juízes, finalizando com o cálculo do índice de validade de conteúdo dos itens e da escala. Foi realizada a aplicação experimental do instrumento por enfermeiros. a versão traduzida da escala passou por duas rodadas de avaliação pelos juízes, a partir das quais os itens com desempenho insatisfatório foram modificados

[Visceral leishmaniasis. Pediatric case report].

PubMed

Gomila H, Andrés; Vanzo, Carolina; Garnero, Analía; Peruzzo, Luisina; Badalotti, Mónica

2017-08-01

La leishmaniasis es una enfermedad causada por parásitos obligados intracelulares pertenecientes al género Leishmania y que reconoce tres formas clínicas principales: cutánea, visceral y mucocutánea. Es una patología del grupo de las "enfermedades desatendidas". Es la única enfermedad tropical transmitida a través de vectores que se ha mantenido endémica por décadas en el sur de Europa. La leishmaniasis visceral representa la forma más grave. Se caracteriza por fiebre, pérdida de peso, anemia y hepatoesplenomegalia. Su período de incubación oscila entre 2 semanas y 18 meses. La leishmaniasis se considera una enfermedad reemergente a nivel mundial. Algunos de los factores que favorecen esta situación son los cambios en las condiciones climáticas, migraciones y urbanizaciones deficitarias en saneamiento ambiental. Se presenta el caso de un niño europeo que estaba vacacionando en Córdoba y fue derivado a nuestro Hospital por fiebre y pancitopenia, lo que generó un abordaje multidisciplinario con resolución clínica favorable. Sociedad Argentina de Pediatría.

Guidelines for Clinical Practice: Hymenoptera sting allergy in children: 2017 update

PubMed

2017-10-01

Las picaduras por himenópteros son frecuentes en la infancia. La mayoría producen reacciones locales, consecuencia de un mecanismo inflamatorio, no alérgico, no tienen progresión y se resuelven con simples medidas terapéuticas. Las reacciones más extensas, generalmente, están asociadas a mecanismos alérgicos, mediados por inmunoglobulina E. Su máxima expresión, la anafilaxia, presenta síntomas cutáneos, respiratorios, cardiovasculares, digestivos y/o neurológicos, con riesgo de muerte. La prevalencia de anafilaxia en pacientes con mastocitosis sistémica es más alta. La familia Hymenoptera, que incluye hormigas coloradas, abejas y avispas, es la causante de las picaduras de mayor riesgo, potencialmente fatales. Los pilares del diagnóstico son la historia clínica, la identificación del insecto, y las pruebas diagnósticas cutáneas y/o in vitro interpretadas por el especialista en Alergia e Inmunología. La inmunoterapia con veneno es el tratamiento de elección para prevenir reacciones anafilácticas por picaduras de himenópteros.

Clustering of four major lifestyle risk factors among Korean adults with metabolic syndrome.

PubMed

Ha, Shin; Choi, Hui Ran; Lee, Yo Han

2017-01-01

The purpose of this study was to investigate the clustering pattern of four major lifestyle risk factors-smoking, heavy drinking, poor diet, and physical inactivity-among people with metabolic syndrome in South Korea. There were 2,469 adults with metabolic syndrome aged 30 years or older available with the 5th Korean National Health and Nutrition Examination Survey dataset. We calculated the ratio of the observed to expected (O/E) prevalence for the 16 different combinations and the prevalence odds ratios (POR) of four lifestyle risk factors. The four lifestyle risk factors tended to cluster in specific multiple combinations. Smoking and heavy drinking was clustered (POR: 1.86 for male, 4.46 for female), heavy drinking and poor diet were clustered (POR: 1.38 for male, 1.74 for female), and smoking and physical inactivity were also clustered (POR: 1.48 for male). Those who were male, younger, low-educated and living alone were much more likely to have a higher number of lifestyle risk factors. Some helpful implications can be drawn from the knowledge on clustering pattern of lifestyle risk factors for more effective intervention program targeting metabolic syndrome.

Crystallization and preliminary crystallographic analysis of selenomethionine-labelled progesterone 5β-reductase from Digitalis lanata Ehrh

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

Egerer-Sieber, Claudia; Herl, Vanessa; Müller-Uri, Frieder

2006-03-01

Progesterone 5β-reductase is the first stereospecific enzyme in the pathway for the synthesis of cardenolides. To elucidate the structural mechanism of this reaction, we crystallized the selenomethionine-labelled enzyme from D. lanata and report the preliminary analysis of a MAD data set collected from these crystals. Progesterone 5β-reductase (5β-POR) catalyzes the reduction of progesterone to 5β-pregnane-3,20-dione and is the first stereospecific enzyme in the putative biosynthetic pathway of Digitalis cardenolides. Selenomethionine-derivatized 5β-POR from D. lanata was successfully overproduced and crystallized. The crystals belong to space group P4{sub 3}2{sub 1}2, with unit-cell parameters a = 71.73, c = 186.64 Å. A MADmore » data set collected at 2.7 Å resolution allowed the identification of six out of eight possible Se-atom positions. A first inspection of the MAD-phased electron-density map shows that 5β-POR is a Rossmann-type reductase and the quality of the map is such that it is anticipated that a complete atomic model of 5β-POR will readily be built.« less

Increasing Access to Modern Multidisciplinary Breast Cancer Care

DTIC Science & Technology

1999-08-01

Hogan, Ed.M., Georgina De La Torre, B.A., Mary E. Avellone, Ph.D. Northwestern University Medical School Hispanics participate less in breast...Increasing Adherence to Physicians’ Screening Mammography 32-38 Recommendations Project 5: Mujeres Felices por ser Saludables: Happy Healthy Women. A...availability: Results of a controlled clinical trial. Archives of Internal Medicine, 1999; 159:393-398. 38 PROJECT 5 - Mujeres Felices por Ser Saludables

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

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.

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

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

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

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

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