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2001-06-01
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),...Full Text Available
Intracranial alveolar echinococcosis: CT and MRI
1994-05-01
Intracranial alveolar echinococcosis is uncommon. We report a patient with right frontal lobe and palpebral lesions secondary to a primary hepatic focus with secondary lesion in the lung. The intracranial and palpebral cystic masses were totally removed and both proved to be alveolar hydatid cysts. An unusual feature in this case is CT and MRI demonstration of dural and bony extension. (orig.)
Intracranial alveolar echinococcosis: CT and MRI
1994-01-01
Intracranial alveolar echinococcosis is uncommon. We report a patient with right frontal lobe and palpebral lesions secondary to a primary hepatic focus with secondary lesion in the lung. The intracranial and palpebral cystic masses were totally removed and both proved to be alveolar hydatid cysts. An unusual feature in this case is CT and MRI demonstration of dural and bony extension. (orig.)
Mental Retardation and Accelerated Growth: Inappropriate Secretion of Human Growth Hormone.
The paper reports detailed studies on a male child who presented with a syndrome characterized by accelerated growth, mental retardation, inner epicanthic folds, flat occiput, hypertelorism, tongue enlargement, down-slanting palpebral fissures, advanced b...
Current Techniques in Surgical Correction of Congenital Ptosis
2010-01-01
Ptosis refers to vertical narrowing of the palpebral fissure secondary to drooping of the upper eyelid to a lower than normal position. Ptosis is considered congenital if present at birth or if it is...Full Text Available
Computed tomography of post-traumatic orbito-palpebral emphysema
1981-11-01
Two cases of orbito-palpebral emphysema are described. Both having a history of recent facial trauma, emphysema occurred after blowing the nose. They were studied by computed tomography and plain x-ray film, including tomograms of the orbit. The emphysema was revealed by computed tomography and x-ray film, but more clearly by the former technique. The fracture lines of the orbit were revealed in only one case by x-ray film, but in both cases by computed tomography. The authors stress that computed tomography is the best technique for the study of orbital emphysema.
Portable exhausters POR-004 SKID B, POR-005 SKID C, POR-006 SKID D storage plan
This document provides a storage plan for portable exhausters POR-004 SKID B, POR-005 SKID C, AND POR-006 SKID D. The exhausters will be stored until they are needed by the TWRS (Tank Waste Remediation Systems) Saltwell Pumping Program. The storage plan provides criteria for portable exhauster storage, periodic inspections during storage, and retrieval from storage.
Portable exhauster POR-007/Skid E and POR-008/Skid F storage plan
This document provides storage requirements for 1,000 CFM portable exhausters POR-O07/Skid E and POR-008/Skid F. These requirements are presented in three parts: preparation for storage, storage maintenance and testing, and retrieval from storage. The exhauster component identification numbers listed in this document contain the prefix POR-007 or POR-008 depending on which exhauster is being used.
Portable exhauster POR-007/Skid E and POR-008/Skid F storage plan
This document provides storage requirements for 1,000 CFM portable exhausters POR-O07/Skid E and POR-008/Skid F. These requirements are presented in three parts: preparation for storage, storage maintenance and testing, and retrieval from storage. The exhauster component identification numbers listed in this document contain the prefix POR-007 or POR-008 depending on which exhauster is being used.
Portable exhauster POR-007/Skid E and POR-008/Skid F storage plan
1998-07-25
This document provides storage requirements for 1,000 CFM portable exhausters POR-O07/Skid E and POR-008/Skid F. These requirements are presented in three parts: preparation for storage, storage maintenance and testing, and retrieval from storage. The exhauster component identification numbers listed in this document contain the prefix POR-007 or POR-008 depending on which exhauster is being used.
Conjunctival Melanoma: A New Clinical and Therapeutical Approach
2010-01-01
Abstract Melanoma involving the conjunctiva is extremely rare. Graver prognosis has been reported with primary conjunctival melanoma than with their cutaneous counterparts [Collin et al.: Aust N Z J Ophthalmol 1986;14:29-34]. Among conjunctival melanomas, two significant risk factors for tumour-related death have been identified: (i) age older than 55 years and (ii) unfavourable tumour location (caruncle, cornea, fornix, palpebral conjunctiva) [Werschnik and Lommatzsch: Am J Clin Oncol 2002;25:248-255]. Here we present a rare case of lentigo maligna involving the palpebral, bulbar conjunctiva and the caruncle. We describe dermoscopic patterns observed and the use of a novel ocular melanoma therapy with topical imiquimod. Copyright Copyright 2010 S. Karger AG, Basel
Resumen de informacin revisada por expertos acerca de la fatiga, una afeccin caracterizada por extremo cansancio e incapacidad para funcionar por la falta de energa, que a menudo se observa como una complicacin del cncer y su tratamiento.
Problem solving technique in ocular prosthetic reconstruction
1990-01-01
This study was conducted on twelve subjects. Who had undergone surgical enucleation of the eye as a result of accidents. Their cosmetic problem was corrected by serial construction of cone formers with bigger sizes and lining modification of stock eye prostheses. The method resulted in sufficient room for the retention of the eye prosthesis and gradually improved the cosmetic problem developed from narrow palpebral fissures. (author)
Lip commissure to eyelid transposition for repair of feline eyelid agenesis
2010-01-01
Abstract Repair of eyelid agenesis in nine eyes of five cats using a lip commissure to eyelid transposition is described. The procedure is a modification of the technique described by Pavletic for reconstruction of the canine inferior eyelid and provides skin, mucosa, a mucocutaneous junction, and muscle to reconstruct the superior and inferior eyelid and lateral canthus. The technique was successful in all eyes and resulted in improvement in corneal protection, cosmesis and in several cats a return of the palpebral reflex.
A protein secretion system linked to bacteroidete gliding motility and pathogenesis
2010-01-05
Full Text Available.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.
1986-01-01
This study explores perceptions of risks to health (POR), risk taking behavior (RTB), and associated illness from the perspectives of medical anthropology and epidemiology. Specific objectives included investigation of the following: (1) general POR: (2) POR from indoor air pollution (IAP) and parental usage of IAP sources; (3) the relationship between POR and RTB; factors affecting POR and RTB; (4) the construction of risk domains; (5) sources of intracultural variation in POR, RTB, and the partitioning of risk domains; (6) patterns of indoor heating in central Michigan; and (7) respiratory illness symptoms (RIS) in children from exposure to indoor heating with a woodburning stove (WBS). POR and RTB were investigated in random and ethnographic samples, RIS in a random sample with an internal comparison group, and indoor heating in a random sample. Interview schedules were developed for each phase of inquiry. The instrument used to investigate POR and RTB includes both qualitative and quantitative scales for POR assessment. Findings of this study provide an ethnography of risk, an inferential analysis of POR/RTB, and a preliminary assessment of risks of RIS from heating with WBS.
2009-01-01
The structure of the porin complexes of Neisseria meningitidis was assessed in the vaccine strain H44/76 and its homologous mutants lacking the main porins (PorA and PorB) and other outer membrane (OM) components (RmpM and FetA). The analysis using 1-D blue native (BN) electrophoresis, 2-D BN/SDS-PAGE and 2-D diagonal electrophoresis, followed by LC/MS-MS (for 1-D gels) or MALDI-TOF (for 2-D gels) revealed at least six porin complexes in the wild-type strain with molecular masses (MW) ranging from 145 to 195 kDa and variable composition: The two higher MW complexes are formed by PorA, PorB and RmpM, the following three are formed by PorA and PorB, and the lower MW one is formed by only PorB. Complexes in the mutants lacking either PorA, PorB or RmpM, but not those in the mutant lacking Fet...
1984-01-01
The strategy for the management of the various malignant tumours of the orbit was tabulated and also illustrated in diagrams. Table 1. Strategy for retinoblastoma. Table 2. Strategy for malignant melanoma: (a) intra-ocular, (b) epibulbar. Table 3. Strategy for squamous cell carcinoma: (a) conjunctival, (b) palpebral. Table 4. Strategy for basal cell carcinoma: (a) palpebral, (b) intra-orbital. Table 5. Strategy for rhabdomyosarcoma (and embryoma) of the orbit. Table 6. Strategy for lymphosarcoma of the orbit. Table 7. Strategy for other tumours of the orbit or adnexa: (A) hystiocytosis X, (B) adenocarcinoma of the lachrymal gland, (C) optic nerve glioma, (D) para-nasal sinus tumours involving orbit. Table 8. Strategy for systemic or metastatic disease involving the orbit or contents: (a) intra-ocular [(i) leukaemia, (ii) carcinoma of the breast or of the bronchus], (b) ...
2009-01-01
We have analysed the structure of meningococcal outer membrane complexes and found that the main complexes are formed by different combinations of PorA and/or PorB molecules, associated to other proteins such as RmpM. In view of the growing knowledge of the importance of conformational epitopes in the immune responses to many pathogens, our aim in this study was to analyse the interactions of PorA and PorB by reconstitution of both recombinant porins into liposomes and determine the relevance of these interactions for the immune response. Recombinant PorA and PorB incorporated into liposomes associate forming complexes that are homomeric when only one of the porins is present, but heteromeric when both neisserial porins are present, mimicking those found previously in native outer membrane...
Prenatally detected trisomy 7 mosaicism in a dysmorphic child.
Trisomy 7 mosaicism was detected prenatally in cultured amniocytes but not in fetal lymphocytes. The child that was born had pigmentary changes of the skin and facial asymmetry suggestive of a chromosomal mosaicism. Skin fibroblasts were studied and trisomy 7 mosaicism was confirmed. At 3 years of age the boy had developed mentally within normal limits. However, dysmorphic findings include sparse hair, short left palpebral fissure, ptosis of the left eyelid, strabismus, enamel dysplasia, low-set and posteriorly rotated ears and undescended testes. These findings share some common features with previously reported cases of trisomy 7 mosaicism.
Pathology Case Study: Brain Tumor and Oral, Lung, and Palpebral Masses
The University of Pittsburgh School of Medicines Department of Pathology has compiled a series of case studies to help both students and instructors. In this neuropathology case, a previously healthy 61-year-old man is presented with progressive weakness in the left arm and leg. The patients test results and microscopic images are included in the case study. Clicking on the Final Diagnosis section will take you to a detailed description of the patients condition from the attending doctor. A list of references, which students could use to get more background information, is also included at the bottom of the section.
Dental team management for a patient with Klippel-Feil syndrome: case report.
Klippel-Feil syndrome (KFS) is a rare congenital abnormality characterized by a short neck, a low posterior hairline, and limited head movement. Occasionally, patients with KFS may also show signs of deafness, intellectual disability, cardiac malformation, palpebral ptosis, facial nerve paralysis, cleft palate, and scoliosis. Although some researchers have documented this syndrome, scant attention has been paid to craniomaxillofacial manifestations and dental treatment of patients with KFS. The objective of this case report was to describe the planning and execution of dental treatment for a 10-year-old male patient with KFS.
MR imaging of the lacrimal gland
1996-04-01
The lacrimal gland consists of the proper lacrimal gland and accessory lacrimal glands. The anterior portion of the proper lacrimal gland is divided into two lobes, an orbital and a palpebral lobes by the aponeurosis of the levator muscle. The study evaluated MRI of 86 normal lacrimal glands, 43 normal volunteers (22 male, 21 female, age: 0-81 years old, mean age: 43.5 years), and 21 lacrimal gland masses (5 malignant lymphomas, 7 pseudolymphomas, 3 pseudotumors, 5 benign mixed tumors, 1 malignant mixed tumor) and correlated with histopathological findings. MRI was performed with a 1.5T unit for all normal subjects and 2 lacrimal gland masses, and with 0.5T unit for 19 masses. The signal intensity of both lobes of lacrimal glands is grossly same as the cerebral gray matter. The intensity within the gland was different slightly according to fat component, which was confirmed histologically. This intensity difference has disappeared on chemical shift fat suppression images. The mean thickness of orbital lobe of lacrimal gland was 2.57 mm, palpebral lobe, 1.74 mm and glandular bridge, 4.49 mm. The thickness of the posterior bridge in older people age over 60 was significantly decreased, and that of orbital lobe of the lacrimal gland in female was thicker than male. The malignant lymphomas inclined to involve the palpebral lobe of the lacrimal gland, and benign mixed tumors did the orbital lobe and glandular bridge of the lacrimal gland. The benign mixed tumor was round and well-definded, while others was molded and infiltrative. The signal intensity was homogeneous in malignant lymphomas, pseudolymphomas and a case of pseudotumors with homogeneous enhancement, while heterogeneous in benign and malignant mixed tumors and 2 cases of pseudotumors. High intensity components on T{sub 2}-weighted images are characteristic for benign and malignant mixed tumors. (author)
Trastorno de tensin postraumtica (PDQ) (Patient)
Resumen de informacin revisada por expertos acerca del trastorno por tensin postraumtica en los pacientes con cncer, supervivientes del cncer y miembros de la familia. Se discuten la evaluacin y tratamiento de este trastorno.
IAIISPS - PROGRAMA CIENTIFICO INICIAL (ISP)
... documento significa e incluye cualquier programa o actividad auspiciada por el IAI en las areas de ... que aumenten o programas que actualmente estan financiados por otras fuentes o b) la implementacion ...
2010-01-01
Human heme oxygenase-1 (HO-1) carries out heme catabolism supported by electrons supplied from the NADPH through NADPH P450 reductase (POR, CPR). Previously we have shown that mutations in human POR cause a rare form of congenital adrenal hyperplasia. In this study, we have evaluated the effects of mutations in POR on HO-1 activity. We used purified preparations of wild type and mutant human POR and in vitro reconstitution with purified HO-1 to measure heme degradation in a coupled assay using biliverdin reductase. Here we show that mutations in POR found in patients may reduce HO-1 activity, potentially influencing heme catabolism in individuals carrying mutant POR alleles. POR mutants Y181D, A457H, Y459H, V492E and R616X had total loss of HO-1 activity, while POR mutations A287P, C569Y a...
System design description for portable 1,000 CFM exhauster Skids POR-007/Skid E and POR-008/Skid F
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.
2010-04-13
PorB is the second most prevalent outer membrane protein in Neisseria meningitidis. PorB is required for neisserial pathogenesis and can elicit a Toll-like receptor mediated host immune...Full Text Available
NASA - News Release - NASA - Home
... ?stas finas pel?culas acu?feras utilicen ?sta fuente de hidr?geno como alimento." ... no dependen de los nutrientes generados por las plantas con clorofila, ... Las comunidades dependientes del hidr?geno, por ejemplo, requieren una fuente ... Por muchos a?os, industrias en el Valley del Ruhr en Alemania han ...
Fatiga (PDQ) (Health Professional)
Resumen de informacin revisada por expertos acerca de la fatiga, una afeccin caracterizada por extremo cansancio e incapacidad para funcionar por la falta de energa, que a menudo se observa como una complicacin del cncer y su tratamiento.
2005-01-01
Unemo M, Norlen O, Fredlund H. The porA pseudogene of Neisseria gonorrhoeae- low level of genetic polymorphism and a few, mainly identical, inactivating mutations. APMIS 2005;113:410-9. N. meningitidis is the only Neisseria species known to express two outer membrane porins, PorA and PorB. However, a porA pseudogene has been identified in N. gonorrhoeae. The present study investigated the prevalence and genetic polymorphism of this porA pseudogene in 87 different N. gonorrhoeae strains. The porA pseudogene was identified in all isolates. The pseudogene comprised 12 (5.5%), of which 10 were located in the promoter spacer, and 11 (1.0%) polymorphic nucleotide sites in the upstream segment containing the promoter region, i.e. the putative -10 and -35 sequences and the promoter spacer in-betwe...
Development of novel cell surface display in Corynebacterium glutamicum using porin
2009-01-01
We have developed a novel cell surface display in Corynebacterium glutamicum using porin proteins as anchor proteins. Porins are localized at C. glutamicum mycolic acid layer and exist as a hexamer. We used ?-amylase from Streptococcus bovis 148 (AmyA) as a model protein to be displayed on the C. glutamicum cell surface. AmyA was fused to the C terminus of the porins PorB, PorC, or PorH. Expression vectors using fused proteins under the control of the cspB promoter were constructed and introduced into the C. glutamicum Cm strain. Immunostaining microscopy and flow cytometric analysis revealed that PorB-AmyA, PorC-AmyA, and PorH-AmyA were displayed on the C. glutamicum cell surface. AmyA activity was only detected in the cell fraction of C. glutamicum cells that displayed AmyA fused to PorB...
Upper face and orbit "degloving" dog bite injury.
A 70-year-old woman who attempted suicide lay unconscious on her floor for an unknown time period while her 2 pet dachshunds chewed her upper face and bilateral periorbital areas including all 4 eyelids, both lacrimal glands, all of the conjunctiva from both eyes, the extraocular muscles on the left side only, and anterior orbital fat from both sides. A subtotal exenteration was performed on her left orbit and a temporoparietal fasciocutaneous flap was used to reconstruct her right orbit with buccal mucosa replacing both the bulbar and palpebral conjunctiva. To the authors' knowledge, this is the first report of such extensive orbital injuries from dog bites.
Unilateral facial myokymia in a dog with an intracranial meningioma
2010-01-01
A 23-month-old castrated male Cavalier King Charles spaniel was evaluated because of a 6-month history of unusual rippling/undulating movements of the right facial muscles that were continuous and persisted during sleep. Neurological examination revealed narrowing of the right palpebral fissure and unilateral right-sided facial myokymia that was characterised by myokymic, and to a lesser degree, neuromyotonic discharges on concentric needle electromyographic examination. After persisting unchanged for almost 2.5 years from its onset, the facial myokymia gradually disappeared over a 6-month period concomitant with the emergence of a persistent ipsilateral facial paralysis and head tilt. At 5 years and 9 months after the first examination, signs of ipsilateral lacrimal, pharyngeal and laryng...
2010-01-01
Abstract Objective To summarize the medical knowledge surrounding aardvarks to date, to describe the ophthalmic examination of a specimen with a chronic history of an upper eyelid lesion, of an assumed blind left eye, and to detail the anesthesia procedure performed. Procedure A 23-year-old aardvark was examined under general anesthesia and multiple ocular abnormalities were detected in the left eye (globe deviation, corneal opacities, iridodonesis, and aphakia). A thickening of the palpebral conjunctiva affecting the medial upper eyelid with erosion of the normal eyelid margin anatomy was identified. The adnexal lesion was resected by a wedge resection and histopathology was performed. Suture breakdown 3 days postoperatively required a second surgery, where buried sutures were used. The s...
Un cas rare de maladie de Basedow chez un patient hemodialyse chronique
2010-01-01
Introduction and aims: 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. Case report: 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 ends, 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 r...
2010-01-01
Purpose: To evaluate the safety and efficacy of transcutaneous injections of botulinum toxin type A (Dysport) in the treatment of upper lid retraction associated with thyroid eye disease (TED). Methods: A total of 25 eyes of 16 patients including 11 female and 5 male subjects with stable TED condition were enrolled into the study. Mean age was 35.7 years (21-55). A transcutaneous injection of 20U Dysport was administered into each eyelid at the central superior tarsal border, aiming at the levator aponeurosis and Muller muscle. All patients were followed regularly for 4 to 6 months. Any complications, such as ptosis, diplopia, pain, or lid ecchymosis were recorded. Results: All patients experienced considerable reduction of palpebral fissure height. The mean lowering of the lid was 4.24 mm...
Thyroid ophthalmopathy revisited Oftalmopatia tireoidea revisitada
2009-01-01
Thyroid ophthalmopathy is an autoimmune orbital disorder closely associated with Graves' disease, although both conditions may also occur isolatedly. Thyroid ophthalmopathy may precede, coincide or follow the thyroid dysfunction onset and may rarely occur in euthyroid and hypothyroid patients. The extra ocular muscles are most frequently involved and become enlarged resulting in ophthalmoplegia and proptosis. Other relevant signs include palpebral retraction, conjunctival hyperemia and periorbitary edema. Visual loss may occur in association with compressive optic neuropathy at the orbital apex. Thyroid ophthalmopathy is characterized by inflammation, congestion, hypertrophy and fibrosis involving fat and the orbital muscles. The disease activity is divided into two phases: an acute or inflammatory phase and a second one corresponding to an inactive phase ...
2010-01-01
Abstract Purpose To carry out a descriptive investigation into the most relevant morphological features of the chinchilla eye and bony orbit, as well as to perform selected ophthalmic diagnostic tests with the aim of establishing normal anatomic and physiologic references for this species. Method A total of 57 healthy, chinchillas were used to test most of the parameters in this investigation. Besides morphologic observations of the globe and adnexa, selected ocular tests and parameters were investigated, including blink frequency, palpebral fissure length (PFL), Schirmer tear test (STT), esthesiometry, intraocular pressure (IOP), central corneal thickness (CCT), B-mode echobiometric measurements of the globe and culture of the normal conjunctival bacterial microbiota. Morphologic observat...
We have evaluated an infant with a striking combination of craniofacial anomalies, arachnodactyly, and severe developmental failure. She died at the age of 5 months during a recurrent apneic episode. She also had protruding eyes, downward slant of palpebral fissures, short upturned nose, midface hypoplasia, micrognathia, extreme underdevelopment of the epiglottis, and severe feeding difficulties. The patient closely resembled four other previously reported patients. It is suggested that these five patients represent the same malformation syndrome, a well-recognizable separate entity. Our patient also had a pericentric inversion of chromosome 10; a possible association of this with the phenotype cannot be excluded. 7 refs., 1 fig., 1 tab.
1995-09-11
We have evaluated an infant with a striking combination of craniofacial anomalies, arachnodactyly, and severe developmental failure. She died at the age of 5 months during a recurrent apneic episode. She also had protruding eyes, downward slant of palpebral fissures, short upturned nose, midface hypoplasia, micrognathia, extreme underdevelopment of the epiglottis, and severe feeding difficulties. The patient closely resembled four other previously reported patients. It is suggested that these five patients represent the same malformation syndrome, a well-recognizable separate entity. Our patient also had a pericentric inversion of chromosome 10; a possible association of this with the phenotype cannot be excluded. 7 refs., 1 fig., 1 tab.
Probable Opitz trigonocephaly C syndrome with medulloblastoma
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 the future for the occurrence of malignancy. 33 refs., 4 figs., 1 tab.
Probable Opitz trigonocephaly C syndrome with medulloblastoma
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 the future for the occurrence of malignancy. 33 refs., 4 figs., 1 tab.
Squamous cell carcinoma (SCC) and squamous papilloma are rarely reported as primary lesions of the cornea in dogs. One case of corneal papilloma and 3 cases of SCC, each arising as a primary central corneal neoplasm rather than spreading from adjacent limbal conjunctiva, were reviewed. The most common cause of SCC in animals is chronic exposure of lightly pigmented epithelium to UV light; however, all dogs in this study had a history of chronic pigmentary keratitis. Three of the 4 dogs were of brachycephalic breeds with naturally proptotic eyes and oversized palpebral fissures that may have exposed the cornea to greater excessive solar radiation. Alternatively, mechanical factors that caused chronic changes in the cornea may have been causative factors for induction of primary dysplastic or neoplastic changes. Primary corneal neoplasia should be considered in the differential diagnosis of corneal masses.
Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the NSD1 gene
2009-01-01
The major diagnostic manifestations in Sotos syndrome include frontal bossing, downward slanting palpebral fissures, a prominent jaw, learning disability, and childhood overgrowth. Over 90% of clinically diagnosed patients have an abnormality in the NSD1 gene. We investigated the dental manifestations of this disorder and found one or several premolar teeth were absent in 9 out of 13 (69%) affected children and adolescents. A heterozygous mutation in the NSD1 gene was identified in 12 patients, including all patients with hypodontia. The severity of the hypodontia seemed to increase with the severity of aberration of the NSD1. More than 50% of the patients had enamel defects or excessive tooth wear. Dental age, based on tooth formation, was within the normal range. A characteristic occlusi...
2007-01-01
Here we describe the clinical, histopathological and molecular studies of a female proband that died at 2months of age in the context of a syndromic polymicrogyria. There was no significant family history. Clinical and radiological features included poor contact, cleft palate, facial dysmorphic features with frontal bossing, down-slanting and small palpebral fissures, inferior epicanthic folds, low-set and malformed ears, flat nose, retrognathism and short neck, minor limb anomalies, polymicrogyria that appear more severe in the perisylvian regions and cerebellar vermis hypoplasia. Autopsy findings revealed a patent foramen ovale with persistent left superior vena cava, left renal hypoplasia and microphthalmia. This description does not fit with any of the known syndromes with polymicrogyr...
Perioperative care of a patient with Beare-Stevenson syndrome
2005-01-01
Summary Beare-Stevenson syndrome is a craniofacial syndrome consisting of a specific pattern of craniosynostosis resulting in a cloverleaf skull deformity and hydrocephalus, down-slanting palpebral fissures, proptosis, hypertelorism, strabismus, dysmorphic ears, choanal atresia, cleft palate, cutis gyratum, acanthosis nigricans, and abnormal genitalia. Its primary cause has been identified as a single amino acid substitution in fibroblast growth factor receptor 2. Of primary importance to the anesthesiologist are issues related to airway management resulting from midface hypoplasia, choanal atresia, and airway abnormalities (tracheal stenosis). Additional issues affecting airway management include associated cervical spine and foramen magnum abnormalities. The authors present their experie...
Ocular parameters in a captive colony of fruit bats
2010-01-01
Abstract Objectives To establish normal reference ranges of ocular parameters including phenol read thread, palpebral fissure length, horizontal and vertical corneal diameter, upright and hanging intraocular pressure (IOP) and to report ophthalmic examination findings of the anterior segment and lens, in a population of captive fruit bats. Animals studied Eyes of 30 bats of three species were included in this study: 10 (5 males, 5 females) Malayan Flying Foxes (Pteropus vampyrus), 10 (5 males, 5 females) Little Golden-mantled Flying Foxes (Pteropus pumilus), and 10 (4 males, 6 females) Island Flying Foxes (Pteropus hypomelanus). Results The most common ophthalmic examination findings included iris-iris persistent pupillary membranes (83%), nuclear sclerosis (56.7%), prominent arterial circ...
Nuclear dacryoscintography in oncologic patients postoperative the tumour of the face
2002-01-01
Introduction: Dacryoscintigraphy is a non invasive method of patency of the drainage of lacrimal system. In normal lacrimal drainage the radioactivity instilled through in the palpebral fissure is immediately drained for the lacrimal sac at 5 to 10 seconds. During the following 30 to 50 seconds there is a drainage of the canaliculi, nasolacrimal sac and from the nasal inferior meatus. The canaliculus, the lacrimal sac and the nasolacrimal duct are well defined on delayed images. Before any surgery in this region these segments have to be identified . Objective: The purpose of this study is to evaluated oncologic patients subjected to surgery of facial tumours at the Head and Neck department of the Nacional Institute Cancer. Material and Method: 1. Patients: 50 oncologic patients subjected the face tumour surgeries. 2. Material: 99 mTc pertechnetate, Gama camera, films. 3. ...
Noonan Syndrome: Introduction and Basic Clinical Features
2009-01-01
Abstract Noonan syndrome (NS) is a fairly common (1 per 1,000-2,500 live births) autosomal dominantly inherited disorder and the most common syndromal cause of congenital heart disease after Down's syndrome. The clinical features vary with age, but typical signs of NS include characteristic facial features with hypertelorism, down-slanting palpebral fissures, low-set posteriorly rotated ears, chest and spinal deformities, short stature, specific heart defects, learning disabilities and mild mental retardation. This article gives a brief introduction to NS and its basic clinical features using the established and generally accepted NS scoring system based on family history and facial, cardiac, growth, chest wall and other criteria. Aspects discussed include the definition, epidemiology, eti...
NEUROBLASTOMA IN A PATIENT WITH COFFIN-SIRIS SYNDROME
2009-01-01
We report the case of an 8-year-old boy with the phenotypic features of Coffin-Siris syndrome diffuse hypertrichosis, flat occiput, scant scalp hair, flat supraorbital arch, triangular eyebrows, horizontal palpebral fissure, anteverted nares, triangular philtrum, coarse lips, high-arched palate, micrognathia, low set and dorsaly rotated ears, short neck, wide thorax, widely set nipples, transverse palmar crease, psychomotor delay, urinary malformations (paraurethral diverticulum, hypoplasia of left kidney associated with vesicoureteral reflux grade 3-4), bilateral inguinal hernia, and dorsolumbar kyphoscoliosis. In the follow-up he presented a retroperitoneal neuroblastoma. Although this type of tumor has been referred to develop in several genetic and mutimalformative syndromes, it seems ...
2010-01-01
Chromosome 6q duplications have been documented repeatedly, allowing the delineation of a "6q duplication syndrome," characterized by hypertelorism, downslanting palpebral fissures, tented upper lip, short neck, severe mental and growth retardation, and joint contractures. Most reported cases result from malsegregation of a reciprocal translocation leading to a terminal 6q duplication and partial monosomy of another chromosome. Only 11 cases of de novo pure duplication have been reported so far. The breakpoints do not appear to be recurrent, but in most cases they have not been characterized molecularly, precluding genotype-phenotype correlation. We report on an 8-year-old girl with a phenotype consistent with mild 6q duplication syndrome, including characteristic physical findings, mild m...
Midline orofacial cleft defects in association with type 1 Duane's retraction syndrome
2009-01-01
Anomalies of ocular motility associated with Duane's retraction syndrome (DRS) have often been perceived as isolated phenomena arising as a result of congenital ocular miswiring between the lateral and medial recti muscles. Interestingly, the reporting of concomitant ocular and systemic anomalies arising in the setting of DRS discounts this narrow perception and highlights the importance of a thorough investigation for non-ocular comorbidities. A 37-year-old Caucasian male presented for a routine ocular examination with complaints of gradual reduction in uncorrected near vision. Our testing confirmed the characteristic deficit of abduction, palpebral fissure narrowing and globe retraction consistent with a type 1 Duane's defect of the right eye. A midline cleft lip and palate were also not...
2010-01-01
We describe two brothers with moderate to severe mental retardation, short stature, an unusual skull shape, early anterior balding, unusual facial morphology, hypogonadotrophic hypogonadism, small genitalia, and small patellae. The older sib had generalized hypotonia without focal neurological abnormalities or myotonia. His brother had epileptic fits in infancy and tonic-clonic seizures from 5 years on, and died at 8 years of age during a seizure with possibly an intra-cerebral haemorrhage. Both brothers had a very similar face characterized by a high anterior hair line, small and upslanting palpebral fissures, deeply set eyes, a broad nasal tip, and everted lower lip. Additional studies in the older sib included a CGH array, and molecular testing of PQBP1 and FRAXA, all with normal result...
Marked Improvement in Segawa Syndrome After l-Dopa and Selegiline Treatment
2010-01-01
Three brothers, born to parents who were first cousins, were referred for progressive diffuse dystonia. Initial physical examinations revealed minor dysmorphic features, e.g., bifrontal narrowing, downslanting palpebral fissures, low-set ears, upturned nostrils, and microretrognathia, as well as neurodevelopmental delay. Absence of eye contact and head control, diffuse dystonia, hypokinesia, choreoathetosis, tremor, increased deep tendon reflexes, diffuse muscle atrophy, and spasticity were evident during neurologic evaluations. After laboratory investigations, imaging studies, and the exclusion of other causes of childhood dystonia, the children were diagnosed with Segawa syndrome. A molecular analysis of the tyrosine hydroxylase gene revealed a novel P492R (1475 C
2009-01-01
Functional anatomy indicates the specificities of the most mobile zone of the face. Ageing process analysis, with the help of CT scan and MRI, confirm the validity of the Face recurve concept: the repetition of the contraction of certain fascicles of the mimic muscles is responsible for the deep fat diminution. For the first time, two fascicles of the orbicularis oculi muscle, malar part, are demonstrated to cause the recession of the inferior orbital rim and of the mid part of the malar bone. Medical and surgical indications are differenciated, depending on the palpebral and midface skin excess. In case of noticeable skin excess, the concentric malar lift can remove vertically the major part of it, reposition the deep and superficial fat at it's original location and weaken the age marker...
Giant Cobblestone-like Papillae During Isotretinoin Therapy
2009-01-01
Purpose: To report a case of giant cobblestone-like papillae that appeared during oral isotretinoin therapy. Design: Case report. Methods: A 14-year-old boy presented with bilateral eye itching for 1 week. Bilateral upper palpebral conjunctival cobblestone-like papillae, superficial punctate keratitis, and shield ulcer in the left cornea were seen. At the time, he was treated with oral isotretinoin for 6 months. Results: Following cessation of isotretinoin, the ulcer and SPK healed, and the papillae disappeared completely after an 8-week course. Conclusion: Giant cobblestone-like papillae and corneal shield ulcer may be considered as a probable isotretinoin-induced ocular adverse event.
2006-01-01
BACKGROUND: Pfeiffer syndrome (PS; OMIM #101600) is an autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, broad thumbs, brachydactyly, broad great toes, and variable syndactyly. CASE: We report a case of PS (type 3) with tracheal and visceral involvement and sacrococcygeal eversion. The patient shows facial dysmorphism with macrocephaly, dolichocephaly, and trigonocephaly, and an asymmetric skull, bilateral and severe exophthalmia with shallow orbits and ocular hypertelorism, downslanting palpebral fissures, constant strabismus, short anterior cranial base, and midface hypoplasia. CONCLUSIONS: Molecular analysis of the FGFR2 gene in this patient revealed a point mutation (c.890G
Feline conjunctival melanoma: histopathological characteristics and clinical outcomes
2010-01-01
Abstract Purpose We report on the histopathology and clinical features of 21 cases of feline conjunctival melanoma. Methods A total of 18 cases are from the COPLOW collection and three cases from Antech Diagnostics. We tabulated the location of the tumor, pigmentation, cell shape, mitotic index and presence of multinucleated tumor cells. Surveys were sent to referring ophthalmologists to obtain further information about each case. Results The mean age of the cats was 12.4 years. A total of 11 cases were neutered males, six spayed females, and one each of intact female and male. Thirteen of the 21 cases were located on the bulbar conjunctiva, three on third eyelid only, three on palpebral conjunctiva. Sixteen tumors were pigmented while five were amelanotic. Seventeen of the cases consisted...
2010-01-01
Syringomyelia (SM) is a disorder in which a cyst forms within the spinal cord. This cyst, called a syrinx, expands and elongates over time, destroying the center of the cord. Horner syndrome is an infrequent illness caused by a lesion of the cervical sympathetic nerve fiber. Its clinical features are facial anhidrosis, ptosis, miosis, and hypochromia iridis of the affected side. A full-term male newborn infant was admitted with weakness in bilateral upper extremities and narrowing of the palpebral fissure on the right side. Ophthalmologic examination revealed a smaller right pupil. Muscle power in bilateral upper limbs was 1/5. Chest X-ray and cranial magnetic resonance imaging were normal. Magnetic resonance imaging of the cervicothoracic spine showed SM at C4-T2 level. Electromyographic ...
Anatomic Properties of the Upper Eyelid in Asian Americans
2009-01-01
BACKGROUND With increasing demand for "double eyelid" surgery within the United States, it becomes prudent for U.S. surgeons to become familiar with Asian eyelid anatomy. OBJECTIVE To identify and describe anatomic characteristics of the Asian upper eyelid. METHODS A cross-sectional descriptive series of 9 Korean-American and 10 Chinese-American subjects. Standardized photographs of the eyes were analyzed. Three types of eyelid anatomy were described: single eyelid, low eyelid crease, and double eyelid. RESULTS The incidence rate for the three types of eyelid anatomies varied between Chinese and Korean Americans. The mean palpebral fissure height, width, and inclination were not statistically different between the two populations. A few subjects had asymmetric eyelid configurations. Chines...
2009-01-01
We report on three individuals of Muslim Arab origin from a village located in Northern Israel affected by an apparent autosomal recessive syndrome characterized by distinctive facial phenotype of which the most prominent feature is ocular hypertelorism. The other clinical features of the syndrome include variable degree of mental retardation, genital abnormalities dominated by short penis, and skeletal abnormalities including chest deformity (combination of upper pectus carinatum with lower pectus excavatum), and short palms with broad short fingers. Affected individuals displayed distinctive facial features including upslanting palpebral fissures, thick eyebrows, long philtrum, wide mouth with thin upper lip and upturned corners of the mouth, widows peak, broad nasal bridge, and simple e...
2010-01-01
We previously described two unrelated patients showing characteristic facial and skeletal features, overlapping with the kyphoscoliosis type Ehlers-Danlos syndrome (EDS) but without lysyl hydroxylase deficiency [Kosho et al. (2005) Am J Med Genet Part A 138A:282-287]. After observations of them over time and encounter with four additional unrelated patients, we have concluded that they represent a new clinically recognizable type of EDS with distinct craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. The patients exhibited strikingly similar features according to their age: craniofacial, large fontanelle, hypertelorism, short and downslanting palpebral fissures, blue sclerae, short nose with h...
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation
2008-01-01
We identified a duplication of 22q13.1-q13.2 in a 10-year-old girl and demonstrated that this duplication was the recombinant product of a maternal intrachromosomal insertion. Phenotypic characteristics included prominent forehead, small low-set ears, hypertelorism, epicanthal folds, small palpebral fissures, short philtrum, and syndactyly. MRI of the brain revealed high signal abnormalities in the periventricular white matter, a hypoplastic corpus callosum, under-rotated hippocampus on the left and atrophic hippocampus on the right. Since age 5, the childs behavior has shown cyclic maniacal episodes with severely disorganized mood and behavior. Psychiatric and cognitive assessment led to a diagnosis of bipolar disorder not otherwise specified, manic episodes, attention deficit hyperactivi...
2010-01-01
An Mg-Al layered double hydroxide containing intercalated NO3^- anions (LDH-N) was synthesized and subsequently submitted to a reaction with triethanolamine as modifying agent (LDH-TEA). A neutral iron(III) porphyrin was immobilized onto both solids LDH-N and LDH-TEA, and the catalytic activity of the resulting FePor-LDH-N and FePor-LDH-TEA was evaluated in the oxidation of (Z)-cyclooctene, cyclohexane, and heptane using iodosylbenzene as oxidant. Characterization of FePor-LDH-N and FePor-LDH-TEA by UV-vis, FTIR, XRD, XPS, EPR, TGA/DTA, and SEM was also accomplished. The products from the catalytic reactions were analyzed by GC, using an FID detector. The catalytic activity of FePor-LDH-TEA in the oxidation of cyclohexane was around 5 times higher than that obtained with FePor-LDH-N, which...
Según un nuevo informe de las principales organizaciones oncológicas de la nación, las tasas de mortalidad por cáncer disminuyeron en promedio 2,1 por ciento por año de 2002 a 2004; casi el doble de la disminución anual de 1,1 por ciento por año de 1993 a 2002. Estos resultados se encuentran en el "Informe Anual a la Nación sobre el Estado del Cáncer de 1975 a 2004. Preguntas y respuestas
On-line event reconstruction using a parallel in-memory data base
PORS is a system designed for on-line event reconstruction in high energy physics (HEP) experiments. It uses the CPREAD reconstruction program. Central to the system is a parallel in-memory database which is used as communication medium between parallel workers. A farming control structure is implemented with PORS in a natural way. The database provides structured storage of data with a short life time. PORS serves as a case study for the construction of a methodology on how to apply parallel in-memory databases to HEP software providing systematic structuring of HEP data, easier parallelization and consequently a simpler development and maintenance of code. PORS runs on a SPARCenter 2000 8-node shared memory computer.
El Instituto Nacional del Cáncer publica nuevo atlas de mortalidad por cáncer
El Instituto Nacional del Cáncer (NCI, por sus siglas en inglés) ha publicado un nuevo atlas, el Atlas de Mortalidad por Cáncer en los Estados Unidos, 1950-94, que muestra los patrones geográficos de las tasas de mortalidad por cáncer durante más de cuatro décadas, en más de 3.000 condados a lo largo del país.
2008-01-01
Las hemorragias alveolares difusas son cuadros clinicos que pueden ser catastroficos si no se diagnostican y tratan a tiempo. Suelen estar causadas en gran parte por vasculitis de vasos pequenos pulmonares. Existen 3 grandes grupos: a) las pauciinmunitarias, generalmente asociadas a capilaritis y anticuerpos citoplasmicos antineutrofilos; b) las producidas por depositos inmunologicos, que pueden detectarse mediante inmunofluorescencia, y c) un gran grupo miscelaneo, que incluye toxicidad por farmacos, infecciones y causas idiopaticas. El diagnostico se basa en la integracion de signos, sintomas, estudios serologicos y morfologicos. Se debe recomendar la realizacion de una biopsia por videotoracoscopia en los pacientes con hemorragia alveolar difusa de causa inexplicada, sin un diagnostico ...
Development of novel cell surface display in Corynebacterium glutamicum using porin.
We have developed a novel cell surface display in Corynebacterium glutamicum using porin proteins as anchor proteins. Porins are localized at C. glutamicum mycolic acid layer and exist as a hexamer. We used alpha-amylase from Streptococcus bovis 148 (AmyA) as a model protein to be displayed on the C. glutamicum cell surface. AmyA was fused to the C terminus of the porins PorB, PorC, or PorH. Expression vectors using fused proteins under the control of the cspB promoter were constructed and introduced into the C. glutamicum Cm strain. Immunostaining microscopy and flow cytometric analysis revealed that PorB-AmyA, PorC-AmyA, and PorH-AmyA were displayed on the C. glutamicum cell surface. AmyA activity was only detected in the cell fraction of C. glutamicum cells that displayed AmyA fused to PorB, PorC or PorH and AmyA activity was not detected in the supernatants of C. glutamicum culture broths after 72 h cultivation. Thus, we have demonstrated that C. glutamicum porins are very efficient anchor proteins for protein display in C. glutamicum.
Boletín del Instituto Nacional del Cáncer - 03-30-2010
En un informe publicado en Internet el 2 de marzo en el British Medical Journal por un grupo de investigadores de la Divisin de Epidemiologia y Gentica del Cncer del NCI, encabezado por el doctor Sholom Wacholder, se examin el riesgo de aborto espontneo despus de la vacunacin con Cervarix para el VPH en dos estudios clnicos multicntricos en fase III; uno fue patrocinado por GlaxoSmith-Kline (GSK) y el otro por el NCI en Costa Rica.
Psychiatric disorders in adults with Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome (RTS) is a multiple anomaly/mental retardation syndrome currently mapped to 16p13.3 and characterized by microephaly, hypertelorism, downslanting palpebral fissures, curved nose, elongated nasal columelia and broad thumbs and great toes, often with medial or lateral angulation. Although there are reports of attentional problems and impulsivity among children with RTS there have been no studies to date of behavioral characteristics of the syndrome. Since 1988 we have identified 7 adults with classic RTS and psychiatric disorders among 1500 mentally retarded individuals ascertained primarily for behavioral and psychiatric problems; these patients all had microcephaly, characteristic facies and broad halluces, frequently with angulation. An additional 6 adults with psychiatric disorders had some features suggesting RTS but not classic for the disorder; these patients had microcephaly, characteristic nasal configuration and somewhat broad thumbs but lacked hypertelorism, downslant of palpebral fissures, angulation of halluces, and/or other dysmorphic features typical of classic RTS. Among the seven with classic RTS, three had tic disorder and/or Obsessive Compulsive Disorder, one had Bipolar Disorder with Psychotic Features and one had Major Depressive Disorder with obsessive-compulsive features. The six with some RTS features had similar psychiatric disorders. All patients were extremely sensitive to side effects of antidopaminergic medication, with the exception of clozapine. This clustering of psychiatric disorders and sensitivity suggests possible dysfunction of dopaminergic and serotonergic systems in at least some patients with RTS. The 16p13.3 region should be examined for possible genes affecting metabolism or receptors of these neurotransmitters.
Psychiatric disorders in adults with Rubinstein-Taybi syndrome
1994-09-01
Rubinstein-Taybi syndrome (RTS) is a multiple anomaly/mental retardation syndrome currently mapped to 16p13.3 and characterized by microephaly, hypertelorism, downslanting palpebral fissures, curved nose, elongated nasal columelia and broad thumbs and great toes, often with medial or lateral angulation. Although there are reports of attentional problems and impulsivity among children with RTS there have been no studies to date of behavioral characteristics of the syndrome. Since 1988 we have identified 7 adults with classic RTS and psychiatric disorders among 1500 mentally retarded individuals ascertained primarily for behavioral and psychiatric problems; these patients all had microcephaly, characteristic facies and broad halluces, frequently with angulation. An additional 6 adults with psychiatric disorders had some features suggesting RTS but not classic for the disorder; these patients had microcephaly, characteristic nasal configuration and somewhat broad thumbs but lacked hypertelorism, downslant of palpebral fissures, angulation of halluces, and/or other dysmorphic features typical of classic RTS. Among the seven with classic RTS, three had tic disorder and/or Obsessive Compulsive Disorder, one had Bipolar Disorder with Psychotic Features and one had Major Depressive Disorder with obsessive-compulsive features. The six with some RTS features had similar psychiatric disorders. All patients were extremely sensitive to side effects of antidopaminergic medication, with the exception of clozapine. This clustering of psychiatric disorders and sensitivity suggests possible dysfunction of dopaminergic and serotonergic systems in at least some patients with RTS. The 16p13.3 region should be examined for possible genes affecting metabolism or receptors of these neurotransmitters.
Liquid Nitrogen Cryotherapy for Surface Eye Disease (An AOS Thesis)
2008-12-01
Full Text Available.PurposeTo evaluate the effects of new treatments with liquid nitrogen cryotherapy on some external eye conditions.MethodsIn 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.ResultsFour 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.ConclusionsLiquid 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.
Deletion of locus D15S113 in a mother and son without features of Angelman syndrome
Deletions of the proximal long arm of chromosome 15 result in Angelman syndrome when inherited from the mother and Prader-Willi syndrome when inherited from the father. The minimal critical deletion region for Angelman syndrome has been reported to include D15S74 (B1.5), D15S10 (TD3-21), and D15S113 (LS6-1). We report a mother and son who have deletions that include D15S113 but who do not have features of Angelman syndrome. D.H. is a 10-year-old white male referred for genetic evaluation due to mental retardation. He has mild to moderate mental retardation and minor dysmorphic features, including downslanting palpebral fissures, prominent nose, broad forehead, small chin, midface hypoplasia, and large ears. His mother (B.S.) has slightly downslanting palpebral fissures and a borderline intellectual deficit. Neither individual has the seizures, excessive laughter, hand clapping, ataxia or facial dysmorphism which are characteristic of Angelman syndrome. The linear order of probes mapping to 15q11-q13 is 15cen-D15S11-D15S13-D15S10-D15S113-GABRB3-D15S12-tel. The proximal border of the deletion in our patients lies between D15S10 and D15S113. The fact that these two individuals do not have Angelman syndrome, despite deletion of D15S113, suggests that the Angelman syndrome critical deletion region should be further refined to exclude the D15S113 locus. In addition, the findings of a more severe intellectual impairment in the son than in the mother suggests that the region immediately telomeric to the critical deletion region for Angelman syndrome may contain imprintable genes that influence intellectual function.
Deletion of locus D15S113 in a mother and son without features of Angelman syndrome
1994-09-01
Deletions of the proximal long arm of chromosome 15 result in Angelman syndrome when inherited from the mother and Prader-Willi syndrome when inherited from the father. The minimal critical deletion region for Angelman syndrome has been reported to include D15S74 (B1.5), D15S10 (TD3-21), and D15S113 (LS6-1). We report a mother and son who have deletions that include D15S113 but who do not have features of Angelman syndrome. D.H. is a 10-year-old white male referred for genetic evaluation due to mental retardation. He has mild to moderate mental retardation and minor dysmorphic features, including downslanting palpebral fissures, prominent nose, broad forehead, small chin, midface hypoplasia, and large ears. His mother (B.S.) has slightly downslanting palpebral fissures and a borderline intellectual deficit. Neither individual has the seizures, excessive laughter, hand clapping, ataxia or facial dysmorphism which are characteristic of Angelman syndrome. The linear order of probes mapping to 15q11-q13 is 15cen-D15S11-D15S13-D15S10-D15S113-GABRB3-D15S12-tel. The proximal border of the deletion in our patients lies between D15S10 and D15S113. The fact that these two individuals do not have Angelman syndrome, despite deletion of D15S113, suggests that the Angelman syndrome critical deletion region should be further refined to exclude the D15S113 locus. In addition, the findings of a more severe intellectual impairment in the son than in the mother suggests that the region immediately telomeric to the critical deletion region for Angelman syndrome may contain imprintable genes that influence intellectual function.
S'COOL: ?Por qu? necesitamos sus observaci?nes?
P?gina Principal · Para Participantes · Aprender M?s · Para Maestros · Para Ni?os · Observaciones Errantes ... La necesidad por la verdad en tierra firme ...
Programa de Centros Oncológicos del Instituto Nacional del Cáncer
Hoja informativa acerca de los centros oncológicos designados por el Instituto Nacional del Cáncer por su excelencia científica y numerosos recursos enfocados en el cáncer y en problemas relacionados con el cáncer.
Los Puntos Lagrangianos L4 y L5
25 May 2004 ... Probemos esto para los ?ngulos A y B, dibujando desde el ?ngulo C una l?nea ... y dividiendo ambos lados por ab nos da el resultado requerido. ... V y la del veh?culo por v, puesto que la distancia = velocidad x tiempo ...
1967-07-01
A study of the spanish potatoe market is carried o nt in order to know the possibilities of preservation by irradiation. The study is initiated with a recompilation of statistical data on the production and consumption of potatoes by regions and seasons. Last years losses are then estimated. (Author) 9 refs.
1967-01-01
A study of the spanish potatoe market is carried o nt in order to know the possibilities of preservation by irradiation. The study is initiated with a recompilation of statistical data on the production and consumption of potatoes by regions and seasons. Last years losses are then estimated. (Author) 9 refs
Enteritis por radiación PDQ Redirect Spanish
El sumario de informacin del PDQ Enteritis por radiacin ha sido incorporado al sumario de informacin Complicaciones gastrointestinales. Para proseguir utilice unos de los siguientes enlaces.(The Radiation Enteritis PDQ information summary has been
Adaptive strategies of lichen species to cold environments ...
formada por liquenes y por una menor cantidad de otras criptogamas y dos ... bajas temperaturas para abstenerse de respirar y asi alcanzar un balance de ... HPLC > High-Performance Liquid Chromatograph · Ancillary Description ...
A trav?s de un misterioso brillo rojo se controla la salud de las ...
30 Ago 2010 ... Una se?al ?nica detectada por el sat?lite Aqua, de la NASA, ... la salud y la productividad de las plantas oce?nicas alrededor del mundo. ... la luz solar y los nutrientes en comida, por medio de la fotos?ntesis. ...
A trav?s de un misterioso brillo rojo se controla la salud de las ...
28 May 2009... luz solar y los nutrientes en comida, por medio de la fotos?ntesis. ... Arriba: Un mapa global de la luz roja flourescente emitida por el fitoplancton. ... El hierro que se necesita para el crecimiento de las plantas ...
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