... on the right side and a narrowed palpebral fissure on the left side after a burn accident. ... right eyelids were reconstructed, and the left palpebral fissure was lengthened by using microsurgical techni...
NBII National Biological Information Infrastructure
We describe the case of a 71-year-old man who developed classic Kaposi's sarcoma with conjunctival-palpebral involvement. The diagnosis was made based on clinical and histopathological findings. The lesions of the palpebral and conjunctival teguments were of a nodular tumorous aspect, their clinical particularities similar to other tegumental involvement. ...
PubMed
... A Food Safety Modernization Act (Lei de Modernização da Segurança Alimentar, FSMA na ... a abordagem da FDA com relação à segurança alimentar, até hoje um ...
Center for Food Safety and Applied Nutrition (CFSAN)
The interest for anthrax is permanent because of its difficult diagnosis, its severe prognosis, and the possibility of its dissemination during biological war and bioterrorism. Cutaneous anthrax is an infectious disease caused by Bacillus anthracis. Palpebral localizations are rare, raising problems of differential diagnosis. The case of a 21-year-old male with ...
The aim of this study was to elucidate the width and length of the superior palpebral muscle by using anti-?-smooth muscle actin antibody. Ten orbits of 5 adult Korean cadavers were used. Eyelids were cut in vertical planes through midpupilliary, medial limbus, and lateral limbus and in horizontal planes at the anterior border of the superior transverse ligament and 2 mm ...
... in the process. Thus, ossified structures isolated in soft tissues are rarely recovered. This, combined with the relatively poor resolving power of conventional X-radiography, probably accounts for why .....
... the orbit, bordering the posterior opening of the lacrimal duct, which is completely included within the lacrimal. Both anterior and posterior palpebrals were preserved in ... ...
Paleness Palpation Palpebral slant - eye PAM Pancreas divisum Pancreas transplant Pancreatic abscess Pancreatic carcinoma Pancreatic islet cell tumor Pancreatic pseudocyst...
Science.gov Websites
The palpebral conjunctiva is an attractive location to qualitatively examine for the presence of anemia; however, this method of diagnosis has not been shown to be accurate. A spectroscopic examination of the palpebral conjunctiva enables the use of a quantitative parameter as a basis for diagnoses. Visible range diffuse reflectance spectra from the ...
NASA Astrophysics Data System (ADS)
This paper is concerned with long term operation of hydro-thermal power systems. The problem is approached by a deterministic optimization technique coupled to an inflow forecasting model in open-loop feedback framework in monthly basis. The paper aims to...
National Technical Information Service (NTIS)
The concept of a Morphological Language (ML) is defined: a finite number of complete lattices; the operators of infimum and supremum for each of these lattices; and the mappings of erosion, dilation, anti-erosion, and anti-dilation inside each lattice as ...
Laboratory spectral measurements were carried out in order to determine the Eucalyptus sp. and Araucaria angustifolia detached leaves spectral reflectance, using a Spectron radiometer SE-590. The Eucalyptus sp. leaves were stored for several storage times...
O OLACPD atuará com uma abordagem exclusiva para a formação de parcerias científicas internacionais. As colaborações bem-sucedidas exigem um objetivo comum, recursos adequados e o compromisso de governos, fundações e outras partes interessadas.
Cancer.gov
The objective is to present a developing methodology that uses Geographic Information Systems (GIS): (1) to aid the making of land suitability maps through the use of topographic maps and data/maps of soil surveys; and (2) to verify the actual land use in...
A methodology that uses remote sensing data in the thermal infrared spectral band (8-14 microns) to detect water stress in corn (Zea mays L.) is presented. Using hourly canopy radiant temperature measured with a PRT-5 radiometer and air temperature during...
BACKGROUNDFrom the standpoint of normal embryologic development, the palpebral fissures are generally considered to be determined by and dependent on the underlying optic vesicles, outpouchings of the frontal area of the developing fetal brain. It has been suggested that short palpebral fissures are a reflection of an underlying defect in specific areas of ...
PubMed Central
-slanting palpebral fissures, a beaked nose with long columella, high arched palate, and grimacing smile. Many
E-print Network
... calm, and the animals became sedated without apparent stress. No excitement stage or seizure activity occurred. Muscle relaxation was profound, and palpebral reflexes were slight to ... ...
... necrosis of pancreatic acinar cells and hemorrhages of conjunctiva in the chickens. Japanese strains isolated in 2004 ... tip of the comb, and hemorrhages of palpebral conjunctiva, liver, cerebellum, and ...
... palpebral edema, and, in the later stages, lethargy, anorexia, dehydration, emaciation, and death, appeared within 4 wk ... Animals were classed as diseased if they displayed anorexia, conjunctivitis, deh...
... opposite midpoint of palpebral lobe, with weak dorsal inflation, background sculpture of very fine granules, subdued medium ... into posterior border; middle body with moderate ventral inflation, entirely...
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...
Contents: Mortality from Malignant Neoplasms in the Town of Split during the Ten Year Period (1957-1966); Clinical and Laboratory Findings in Alcohol Streatosis and Liver Steatofibrosis; Conduction Anesthesia of the Palpebral Zone; Roentgen Diagnosis of E...
Contents: Significance and role of the Medical Association of Croatia in the future development of Yugoslav medicine; Ice cream sampling in Zagreb in 1966; Allergic recurrent palpebral edema in childrem with eosinophillic meningitis; Primary aldosteronism...
PurposeThe conjunctival epithelium is a continuous sheet of cells with regional characteristics that appear to be similar. This study was designed to investigate the distribution and levels of expression of a subset of microfilament regulators in the forniceal, palpebral, and bulbar conjunctival epithelia.MethodsBalb/C mice were used. The localizations of paxillin, focal ...
The utilization of LANDSAT-MSS data is evaluated for geomorphological mapping at 1:100 scale in a semiarid environment for regional planning purposes. An integrated mapping approach was used. The study site is located in northern Bahia State and covers ne...
OBJECTIVESTo estimate oculometric parameters of Graves� ophthalmopathy in comparison to healthy eyes using digital photography and digital image analysis.INTRODUCTION Graves� ophthalmopathy is the main cause of eye proptosis. Because these protrusions cause clinically perceived distortions in orbital architecture, digital photographs can be used to detect and quantify these changes.METHODSWe ...
Hydrogen peroxide is an effective and commonly used contact lens disinfectant that is also used as a preservative in certain ocular medications. We describe the effects of hydrogen peroxide on the cornea and anterior chamber following its topical application via a contact lens or as drops. The conditions for interaction of hydrogen peroxide with corneal and palpebral tissues ...
The enhanced palpebral spring and the gold weight are the modern devices that should nearly completely replace tarsorrhaphy in the management of ocular problems secondary to facial paralysis. They actually reanimate the lid, rather than merely hold the lids closed in a disfigured position, as does tarsorrhaphy. The surgical techniques of each procedure, results, and pros and ...
A 40-year-old man presented with a pigmented lesion of the palpebral conjunctiva and margin of the right lower eyelid. Because of suspicion of melanoma, the lesion was resected. Microscopic examination revealed 2 distinct components: a dominant blue nevus in the tarsus consisting of bland pigmented spindle and epithelioid cells that dissected among the orbicularis muscle ...
Post-vaccination eyes and eyelid complications are seldom seen. Clinically different, they are not only due to the small-pox vaccination which is no longer performed but may also be seen with various kinds of viral vaccines as well as bacterial vaccines except for polymyelitis and tetanus. We believe that vaccination contraindications, direction for use and propylactic treatment are useful. ...
A case of trisomy 20p resulting from a maternal translocation t(3;20) is described. QM and BUdR banding techniques were used for its identification. A round face with oblique palpebral fissures, strabismus, cardiac and vertebral abnormalities, mild psychomotor retardation, together with poor coordination and speech impediment, are the most typical features of the proband. ...
The effect of an ocular administration of the alpha-1 adrenergic agonist phenylephrine was studied in 23 cases of grass sickness and 12 control horses. In the horses with grass sickness there was a significantly greater mean increase in the size of the palpebral fissure, as measured by the change in the angle of the eyelashes to the head observed from a frontal view. ...
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 ...
Energy Citations Database
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 ...
Purpose:To examine the histopathology of palpebral conjunctiva in patients with thyroid-related orbitopathy. Based on previously published anecdotes, the hypothesis is that conjunctiva shows increased inflammation and fibrosis.Methods:This was a comparative case series. Superior palpebral conjunctiva was examined from two groups. The study group consisted ...
We report on craniomicromelic syndrome in a male fetus. This case had the previously reported features of prenatal onset growth retardation, underossified cranial bones, wide sutures and fontanels, small face as compared to head, small palpebral fissures, pinched nose, microstomia, micrognathia, and narrow thorax. The consistent combination of these features with short ...
Purpose: Conjunctival epithelia play an important role in forming a physical protective barrier of the ocular surface. To protect the integrity of the ocular surface, the conjunctival epithelial cells (CECs) must be self-renewing from local stem cells. In this study, the distribution of conjunctival epithelial stem/progenitor cells was determined. Methods: In a long-term bromodeoxyuridine (BrdU) ...
PurposeMany surgical techniques have been developed to address eyelid retraction with varying results. Identifying and evaluating the anatomical and pathophysiological factors involved will assist in its surgical treatment. This prospective study evaluated the graded levator hinge procedure, in combination with a M�llerectomy and/or lateral canthoplasty when indicated, in an attempt to precisely ...
In exposing facial fractures for reduction and fixation with coronal, subciliary, subtarsal, and upper buccal sulcus approaches, the supraorbital and infraorbital nerves are susceptible to injury. The location of the supraorbital and infraorbital nerves can be predicted by palpating for the supraorbital notch. Significant edema as seen with facial fractures can make these ...
Neste trabalho ampliamos a discuss�o da abordagem hol�stica para o ensino de astronomia que temos desenvolvido nos �ltimos anos, analisamos novos resultados e apresentamos exemplos pr�ticos para interessados em experiment�-la. A constata��o b�sica a orientar este enfoque � que cursos introdut�rios em astronomia costumam ser excessiva e prematuramente ...
To reduce the risk of recurrence and malignant transformation, pleomorphic adenomas of the lacrimal gland should be removed intact, without prior biopsy. Seventy one of the 78 patients in this series were referred without previous surgery, and, on clinical or radiological evidence, 63 (89%) tumours were correctly diagnosed and totally excised, with preservation of a margin of the surrounding ...
Dacryops is a closed cyst that develops on the palpebral lobe of the lacrimal gland, manifesting in the region of the external canthus. Its slow and insidious growth causes mechanical and aesthetic problems that do not regress spontaneously. Treatment involves excision of the cyst while sparing the adjacent glandular tissues. In cases associated with hypolacrimation, ...
Anemia is a serious worldwide disorder affecting 2 billion people globally. While the only clinically accepted method of diagnosis remains an invasive blood draw and laboratory analysis, numerous attempts have been made to measure total blood hemoglobin noninvasively. Although the palpebral conjunctiva can be used as a poor qualitative indicator of anemia, a quantitative ...
A syndrome is described comprising: 1, impossibility to close only one eye (right or left) at a time, or each eye alternatively with intact capability of closing both eyes; 2, unvoluntary screwing up of an eye during voluntary closing of another (palpebro-palpebral synkinesia); 3, head turning to the side of an eye closed (palpebrocervical synkinesia); 4, with the hands ...
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 ...
Fibrosis of the extraocular muscles can be an acquired or congenital disorder (CFEOM). The congenital disorder(1) is a complex strabismus with congenital restrictive ophthalmoplegia with or without ptosis. The surgery is challenging because the eye muscles are replaced by fibrous tissue or fibrous bands and in most cases the results are not satisfactory. We present the first case report of ...
Kabuki syndrome is characterized by long palpebral fissures, large ears, a depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. There have been few prior detailed descriptions of strabismus or stereopsis in these patients. We report a patient with Kabuki syndrome who showed small-angle strabismus and poor stereopsis. This case ...
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 ...
PurposeTo report a case of lichen planus in a patient with a history of herpes simplex virus keratitis.MethodsCase report.ResultsA 60-year-old woman with chronic conjunctivitis and a history of herpes simplex virus keratitis was evaluated for irritation and a plaque on her right upper and lower eyelid palpebral conjunctivae. A surgical excision showed acanthosis and an ...
This syndrome comprises of bilateral femoral hypoplasia and unusual facies comprises of short nose with broad tip, elongated philtrum, thin upper lip, small lower jaw, cleft palate and antimongolian slant of palpebral fissure. Etiology is idiopathic, sporadic, few families have been reported to have autosomal dominant inheritance. We report a case with the additional finding ...
The aim of this study was to elucidate a branch of the infraorbital artery (IOA) crossing the arcus marginalis into the orbit that might be vulnerable during a procedure of midface lift or fat sliding or a transposition in lower blepharoplasty.Eleven orbits of 6 Korean cadavers were dissected after injecting red latex into the external carotid artery. The IOA and nerve were identified. A branch of ...
A redu��o do custo de combust�vel de uma manobra � atualmente a grande prioridade de todos os programas espaciais existentes no mundo. As manobras assistidas pela gravidade s�o uma �tima forma de se contornar o problema pois proporcionam economias com vasto impacto no custo final da miss�o. Neste trabalho � feito um estudo particular do controle orbital de um sat�lite artificial ...
PURPOSE: To evaluate whether tumor-associated lymphangiogenesis contributes to prognosis of conjunctival malignant melanomas and to study its association with other tumor characteristics. DESIGN: Nonrandomized, retrospective case series. PARTICIPANTS: A total of 109 consecutive patients with primary conjunctival malignant melanoma. METHODS: Proliferating lymphatic vessels were identified ...
PURPOSE:: The purpose of this study is to describe a novel canthopexy technique-the lateral canthal resuspension sine canthotomy (LCR-SC)-performed via an upper-eyelid incision and to compare it with the lateral tarsal strip procedure (LTS). METHODS:: This is a retrospective study in which the pre- and postoperative photographs of 20 patients per group who had LCR-SC, LCR-SC + midface lift ...
Facial nerve palsy may result from a broad spectrum of causes, which is largely due to its topographic complexity. Different types of cross plastic surgery and nerve autografting and muscle transplantation and transposition are used to recover nerve function. Lagophthalmos is a most severe sequel of facial nerve palsy. Blephorrhaphy and tarsorrhaphy, operations for removal of lower eyelid ...
The authors present their approach in face reconstruction after carcinological demolition. CASE REPORT: A 40-years-old patient presented an epidermoid carcinoma starting at the level of the right jawbone, few differentiated, massively destroying the roof of the maxillary sinus with subcutaneous and cutaneous infiltration in front and extension to the orbit. A broad right hemifacial right ...
Synkinetic movements of the upper eyelids may be noted in association with movements of either extraocular muscles or other muscles of the face. Patients with oculopalpebral or facial-palpebral synkinesis may also have ptosis of the involved eyelid. The clinical and therapeutic features of this association are specific. We mainly distinguish two forms of synkinetic movements, ...
We report on two severely mentally retarded male children of consanguineous parents who seem to be affected by an identical syndrome. The main physical anomalies are typical facial stigmata with a broad nasal bridge, a bulbous nose, upward slanting palpebral fissures, microretrognathia, low hair line, and large ears with an incompletely developed upper helix. In addition, both ...
A wild Peregrine Falcon (Falco peregrinus) was presented with extensive bilateral fluorescein positive corneal damage. Local therapy and bilateral tarsorrhaphies resulted in slow improvement over 5 weeks. When bilateral 360 degree conjunctival flaps were used subsequently, healing proceeded more rapidly over the next 8 weeks. Although bulbar conjunctival flaps have been reported as difficult in ...
A 16 year old girl presented with irritation and watering of the right eye for 3 months. On examination, the superior perilimbal sclera was ectatic with incarcerated uveal tissue covered by conjunctiva. The conjunctiva showed discreet, yellow white mucoid spots. Excision biopsy of the conjunctiva showed subepithelial spherules of sporangia containing numerous endospores, suggestive of ...
We report on two brothers, born to double first cousin Jordanian Arab parents, with a syndrome comprising severe hypertelorism with upslanted palpebral fissures, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures. Both have severe myopia, mild to moderate sensori-neural hearing loss and borderline intelligence. Results of ...
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 ...
IN our human gene localization studies we have sought abnormal inheritance patterns of qualitative gene markers and have evaluated possible gene dose effects through quantitative enzyme assays in patients with abnormal chromosome constitutions. During these studies a patient with the cat cry syndrome was found to have a half normal value for red blood cell triosephosphate isomerase (EC 5.3.1.1). ...
The University of Pittsburgh School of Medicine�s 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 patient�s test results and microscopic images are included in the case study. ...
NSDL National Science Digital Library
The phenotype of a girl at age of 12 years with a partial trisomy 4q caused by unique direct duplication 4q27 --> q31.3 included the thick, broad and straight eyebrows, upward slanting palpebral fissures, a deep-set eyes, narrow bridge and long back of the nose, flattened philtrum columns, narrow of vermilion borders of both upper and lower lips, protrusion of maxillary ...
We describe a male neonate with a duplication of 1(q25qter) due to de novo unbalanced translocation (1;19)(q25;pter). He had macrocephaly, wide sutures and wide anterior fontanelle, bilateral temporoparietal bossing, downward slanting palpebral fissures, low set, posteriorly rotated ears, downturned mouth corners, thin upper lip, retrognathia, high arched palate, triangular ...
Contact sensitivity to systemically administered drugs occurs mainly among healthcare workers and is frequently caused by antibiotics. A 32-year-old nurse presented with a 1� year history of hand dermatitis and a 2 month history of palpebral eczema, which were clearly work related. Patch tests with standard and gloves series were negative. Testing of the products commonly ...
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 ...
This is the first documented study of the anatomical details of the contents of the normal koala orbit, excluding the bulbus oculi. Baseline data were established which are necessary for understanding and treating ocular disease in the koala (Phascolarctos cinereus). The anatomy of the orbital contents of the koala were examined and described from animals that presented dead or were euthanized for ...
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 ...
Hunter-McAlpine syndrome is an autosomal dominant disorder consisting of variable manifestations including craniosynostosis, almond-shaped palpebral fissures, small mouth, mild acral-skeletal anomalies, short stature, and mental deficiency. We report on a 9-year-old boy with this phenotype with more severe skeletal abnormalities than previously described. Chromosomes showed ...
After irradiation of the palpebral conjunctiva of rabbits with /sup 90/ Sr BETA rays (5400 rep/min for 1, 5, 10, 15, 30, and 60 min), histochemical changes of succinic dehydrogenase activity were studied. The activity decreased after irradiation; the longer the irradiation time, the more marked the decrease. The enzymically produced diformazan granules became coarse ...
Noonan-like/multiple giant cell lesion syndrome (NS/MGCLS) is a rare condition with phenotypic overlap with Noonan syndrome (NS). Once thought to be a specific and separate entity, it is now suggested to be a variant of the NS spectrum. We report a patient with classical cardinal features of NS, including short stature, mild ptosis, hypertelorism, down-slating palpebral ...
During the first thirty years of the XXth century, parasitologists and epidemiologists who were at the origin of the nosography and etiology of parasitic diseases were faced with several overlapping problems. A person can be infected simultaneoulsy by several different parasites. The delineation of clinical signs is an essential step, in the field and without the help of the laboratory, to ...
Duane syndrome is an ocular motility disorder consisting of deficient horizontal eye movements, eyelid retraction, palpebral fissure narrowing, and abnormal vertical eye movements. It occurs in 1%-5% of patients with strabismus and has also been reported in several syndromes and chromosome abnormalities. Although most cases are sporadic, autosomal-dominant inheritance is seen ...
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 diagnosed within the first year of life. Correction of congenital ptosis is one of the most difficult challenges ophthalmologists face. Multiple surgical procedures are available ...
Deletions of the long arm of the Y chromosome have previously been associated with azoospermia and short stature. We report the results of a detailed clinical and molecular study of nine males with partial deletions of Yq. Special emphasis was laid on congenital anomalies and dysmorphic features. Some of the patients have developmental problems or distinct facial features, namely a small chin and ...
We describe the clinical characteristics of a provisionally unique form of distal arthrogryposis. The anomalies observed in affected individuals are more severe than those in distal arthrogryposis type 1 and are similar to but less dramatic than those described in distal arthrogryposis type 2A (Freeman-Sheldon syndrome). Consequently, we label this disorder distal arthrogryposis type 2B (DA2B). ...
We report on a 4-{1/2} year old girl with apparent CHARGE association who had a de novo inverted duplication (14) (q22{r_arrow}24.3), iris colobomas, ventricular septal defect, soft tissue choanal atresia, intellectual impairment, growth retardation, sensorineural deafness, apparently low set ears, and upslanting palpebral fissures. Family history was unremarkable and parental ...
We report the case of a 43-day-old boy with branchio-oculo-facial syndrome (BOFS) and congenital heart defect. On clinical examination, he presented growth retardation, epicanthal folds, small palpebral fissures, telecanthus, broadened nasal bridge, lip pseudocleft, micrognathia, dysplastic and posteriorly-rotated ears, branchial clefts, short and webbed neck, supernumerary ...
Embora os Par�metros Curriculares Nacionais do Ensino M�dio (PCN-EM) e as orienta��es complementares a esses Par�metros (PCN+) apontem a import�ncia de uma abordagem significativa de conceitos relacionados � astronomia nas aulas de F�sica, muitos estudantes terminam o Ensino M�dio (EM) sem compreender a raz�o de certos acontecimentos de origem celeste, ...
A 78 year old Japanese woman was transferred to our hospital for the treatment of a fracture of the left femoral neck in April, 2010. She had been taking oral corticosteroid (prednisolone 5 mg/day) for the treatment of idiopathic interstitial pneumonia since 2003, and had been treated by home oxygen therapy since 2007. She fell in the restroom at home and hurt herself, and was transferred to our ...
Background/aims: The management of lower eyelid retraction can be challenging, and established techniques to correct it are not always successful. Previous reports have suggested a role for the ultrathin high density porous polyethylene lower eyelid spacer (Medpor LES) in such patients. The authors report the experience of three surgeons implanting Medpor LES over 1 year, and ascertain whether ...
1 The clinical pharmacological properties of viloxazine hydrochloride (ICI 58,834, Vivalan), a new antidepressant of novel chemical structure, have been investigated in a series of double-blind randomized studies comparing it with placebo and imipramine. Throughout the studies, viloxazine hydrochloride was given in single doses of 100 mg (expressed as base), and imipramine hydrochloride was given ...
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 ...
A 28-year-old woman presented with a 2-year history of idiopathic, chronic blepharitis unresponsive to several courses treatment of corticosteroid eye drops. Physical examination was notable for edematous, erythematous plaques of the lower eyelids with madarosis in the absence of preceding skin scarring. Biopsy specimen was obtained and diagnosis of discoid lupus erythematosus (DLE) was made. DLE ...
The goal of this work was to characterize the morphology of fetuses of Myocastor coypus bonariensis (coypu) after 60, 90, 120 and 135 days post-coitus (d.p.c.). At all the ages, gestational sacs showed an elliptical shape. Placentas were discoidal, with a unilobular external appearance in fetuses of 60 d.p.c. and with lobulations separated by a groove in fetuses of other ages. The umbilical cord, ...
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), ...
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 ...
Variabilidade � tipicamente uma caracter�stica de AGNs, sendo observada em toda a faixa eletromagn�tica. Em rela��o �s escalas de tempo, varia��es desde horas at� de algumas d�cadas foram encontradas por v�rios autores. Em alguns casos, an�lises temporais de curvas de luz mostram a exist�ncia de periodicidade nas varia��es observadas. Um exemplo de objeto que preenche ...
Nesse trabalho foi identificada por meio de um question�rio a vis�o de mundo sobre o Universo espa�o e tempo entre 270 estudantes de Ensino M�dio de tr�s escolas de S�o Paulo. Constatou-se pouco conhecimento dos temas investigados sendo que apenas 20% dos alunos relacionaram as semanas com as fases da lua enquanto 28% associaram as esta��es do ano � inclina��o do eixo de ...
The Niikawa-Kuroki syndrome is a rare syndrome characterized by multiple congenital anomalies, mental retardation, postnatal growth deficiency, dermatoglyphic abnormalities and a characteristic facial appearance. More than 100 cases of the syndrome have been described in Europe. Here we report a 10 year old girl with this syndrome. Recurrent infections of the middle ear as well as delayed motor ...
INTRODUCTION: The ideal approach to orbital medial wall fractures remains controversial. Only the coronal approach exposes the medial wall completely. The transcaruncular approach enables a clear and wide view of the medial wall without any visible scar compared to usual transcutaneous techniques. This approach can be combined with a transconjunctival approach, thus providing an extended exposure ...
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 ...
We report a case of unequal mitotic chromatid exchange, which has rarely been reported as a mechanism for microscopic chromosomal anomalies. The proposita was born at 40 weeks, after an uneventful pregnancy, of parents with a negative family history. The baby was small for gestational age and had dysmorphic features, including scaphocephaly, bilateral epicanthal folds and ...
Toriello-Carey syndrome is a rare multiple congenital anomaly syndrome comprising agenesis of the corpus callosum, telecanthus, short palpebral fissures, abnormal ears, Pierre Robin sequence, and cardiac anomaly. Autosomal recessive inheritance has been hypothesized and chromosome abnormalities have been reported. The present case is a girl with agenesis of the corpus ...
In this study, we examined the development of the upper eyelids to provide a basic understanding of gross anatomical structures and information relative to mechanisms of congenital anomalies in the upper eyelids. We studied the upper eyelids by external and histological observation in 48 human embryos and in fetuses from 5 to 36 weeks postfertilization. The upper eyelid fold began to develop at ...
We report a case of a 52-year-old female patient who developed overcorrection, due to brow overuse, post surgery for bilateral aponeurotic ptosis. The patient had undergone levator palpebrae superioris plication bilaterally. Due to brow overuse habituated by long standing ptosis, the patient presented with superior scleral show, post ptosis surgery. The lid contour was normal in both eyes and when ...
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 ...
In cases of extropia with an exodeviation angle over 50 prism diopter (PD), a 3- or 4-muscle surgery is a rational option. But, in patients with sensory exotropia, there is usually a strong preference for a monocular procedure to avoid surgery on the single seeing eye. Thus, we confined surgery to visually poor eyes, and performed a medial rectus muscle resection with a mean of 10.3 mm (range, ...
The authors present a case of near-total upper and lower eyelid defects treated with a first web space free flap after a chemical burn injury. A first web space free flap was raised from the ipsilateral foot and transferred to the defect with its base turned toward the medial canthal area. The first dorsal metatarsal artery and veins were anastomosed to the superficial temporal artery and veins, ...
A 5-year-old boy and his father with Pfeiffer syndrome are described. They had acrocephaly, hypertelorism, antimongoloid slant of the palpebral fissures, protrusion of the eyes, large and broad nose, small mandible, irregularly placed teeth, additional upper canine, high-arched palate, partial syndactyly of fingers and toes, brachydactyly of toes, valgus deformity of ...
No vector transmitted cases of Chagas disease had been notified in the state of S�o Paulo since the 1970s. However, in March, 2006, the death of a six-year-old boy from the municipality of Itaporanga was notified to the Center for Epidemiological Survey of the S�o Paulo State Health Secretariat: an autochthonous case of acute Chagas disease. The postmortem histopathological examination ...
Oculodentodigital syndrome (ODD) is a rare, usually autosomal-dominant disorder that is characterized by developmental abnormalities of the face, eyes, teeth, and limbs. The most common clinical findings include a long, narrow nose, short palpebral fissures, type III syndactyly, and dental abnormalities including generalized microdontia and enamel hypoplasia. Recently, it has ...
A 27-year-old white woman presented with enophthalmos in the right eye. The visual acuity was 20/20 in both eyes. External examination showed 7 mm of enophthalmos of the right eye with deepened superior palpebral sulcus compared with the left eye. After Valsalva maneuver, the right eye became 4-mm exophthalmic compared with the left eye. Extraocular movements were full. There ...
We report on an aneuploidy syndrome due to the unbalanced segregation of a familial translocation (4;21)(p16.3;q22.1) causing a partial 4p monosomy and a partial 21q trisomy. The three affected children presented with severe failure to thrive, short stature, microcephaly, profound hypotonia, and mental retardation. The face, very similar in the three children, is characterized by frontal bossing, ...
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 ...
We describe a partial duplication of the chromosome 16 short arm [46,XY,dup(16)(p11.2p13.1)] in an Iranian girl with autism, neurodevelopmental delay, mental retardation, very poor memory, and dysmorphism including sparse hair, upslanting palpebral fissures, long philtrum, micrognathia, hypotonia, small feet and hands, syndactyly of the fingers, and hypoplastic thumbs. The ...
BACKGROUND: Ethnic characteristics of the Asian upper eyelid include the lack of a superior palpebral fold, excessive fat, laxity of pretarsal skin, and a medial epicanthal fold. We present the lazy S-curve epicanthoplasty for correction of the medial epicanthal fold. METHODS: The lazy S-curve incision was made as an entrance step. Then the connective and orbicularis oculi ...
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 ...
Ocular complications from facial nerve paralysis can be quite devastating. Facial nerve paralysis results in cosmetic as well as functional problems. Paralysis of the upper eyelids leads to lagophthalmos, which results in incomplete closure of the lid over the cornea, leading to potential complication of corneal ulceration. The management of the affected eye in patients with facial palsy has been ...
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 ...
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 ...
We described four offspring of a consanguineous couple with arterial tortuosity "syndrome" (ATS). The affected children had extensive arterial involvement although the clinical presentations were quite variable. Clinical manifestations included cutis laxa or soft/thin skin, joint laxity or contractures, and arachnodactyly. Aortic tortuosity and pulmonary artery aneurysms with or without peripheral ...
A infant girl had red stellate skin lesions on the cheeks and neck, and mildly short palpebral fissures. Her skin abnormality was typical of microphthalmia with linear skin defects (MLS), a newly recognized syndrome consisting of congenital linear skin defects and ocular abnormalities in females monosomic for Xp22. She died suddenly and unexpectedly at age 4 months; the cause ...
SummaryEsophageal atresia (EA) is a common life-threatening congenital anomaly that occurs in 1/3,000 newborns. Little is known of the genetic factors that underlie EA. Oculodigitoesophageoduodenal (ODED) syndrome (also known as �Feingold syndrome�) is a rare autosomal dominant disorder with digital abnormalities, microcephaly, short palpebral fissures, mild learning ...
ObjectiveTo determine whether children who do not develop fetal alcohol syndrome (FAS) despite heavy alcohol exposure are at risk for eye abnormalitiesStudy designWe screened 9628 pregnant women and identified 101 women who were drinking ? 2 ounces of absolute alcohol per day and 101 non-drinking control women. We followed 43 exposed and 55 control offspring ages 4 to 9 years and performed masked, ...
Kabuki syndrome is a genetic disorder of unknown etiology characterized by mental retardation, growth deficiency, and peculiar face (i.e., long palpebral fissures, eversion of the lateral third of the lower eyelids, prominent ears, and broad and depressed nasal tip). Oral manifestations commonly observed in Kabuki syndrome may comprise cleft lip/palate, bifid tongue and uvula, ...
Treacher Collins syndrome (TCS) is a rare autosomal dominant disorder characterized by craniofacial deformities. It is the most common type of mandibulofacial dysostosis (MFD). The objective of this study is to do cytogenetic analysis of a TCS family. Physical examination and all available medical records were reviewed. 50 GTG-banded metaphases were analysed to detect any structural or numerical ...
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 ...
The second of twins males expired of respiratory insufficiency shortly after birth. Unusual facial appearance included prominent forehead, flat nasal bridge, widely separated inner canthi, downward slanting eyes with narrow palpebral fissures, epicanthic folds, small mouth and micrognathia, and apparently low-set ears; there was also cryptorchidism bilaterally and a simian ...
We report eyelid margin changes in 3 patients after docetaxel treatment for breast cancer. These patients were referred to Cincinnati Eye Institute for eyelash abnormalities and/or epiphora and all had been treated with docetaxel in the near past. The ophthalmic complaints started soon after chemotherapy. All 3 cases showed varying degrees of palpebral mucosal inflammation and ...
X-linked mental retardation (XLMR) affects 1-2/1,000 males and accounts for approximately 10% of all mental retardation (MR). We have ascertained a syndromic form of XLMR segregating within a five-generation family with seven affected males. Prominent characteristics include mild to severe MR, cortical malformation, microcephaly, seizures, thin build with distinct facial features including a long ...
To establish a technique for moderate and severe blepharoptosis to exert the function of residual levator muscle, 30 patients (38 eyes) who had moderate and severe blepharoptosis were treated, and the results including complications were followed up and valued. Operation was performed via anterior transcutaneous incision. After separating levator muscle and tarsus, the amount excision of levator ...
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 ...
Prader-Willi syndrome (PWS) is a complex genetic disorder. It is characterized by hypotonia, short stature, hypogonadism, mental retardation, behavioral problems, and hyperphagia, which result in excessive obesity (Lindgren et al., 2000). The abnormal body composition resembles children seen with growth hormone deficiency (Carrel & Allen, 2001) . The dysmorphic features characteristic of PWS ...
Duane retraction syndrome (DRS) is a congenital eye movement disorder characterized most typically by partial or complete failure of abduction and narrowing of palpebral fissure with globe retraction on adduction. Recently mutations of the SALL4 gene on chromosome 20 have been linked to DRS associated with radial forearm malformations (Okihiro syndrome). In this prospective, ...
Accumulating evidence from structural brain imaging studies on individuals with fetal alcohol spectrum disorder (FASD) has supported links between prenatal alcohol exposure and brain morphological deficits. Although global and regional volumetric reductions appear relatively robust, the effects of alcohol exposure on cortical thickness and relationships with facial dysmorphology are not yet known. ...
A large Moslem Arabic family from the North of Israel is presented in which nine individuals are affected with short stature (5th centile and below), variable pterygium of neck or short neck with limited range of motion, pterygium of elbows, short palms, and brachydactyly. Other abnormalities of the fingers include syndactyly, camptodactyly, and/or hypermobility of the small joints. The face ...
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 ...
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 ...
Feingold syndrome (FS) is a dominantly inherited combination of microcephaly with or without learning disabilities, hand and foot abnormalities, short palpebral fissures and esophageal/duodenal atresia. The syndrome has autosomal dominant inheritance with full penetrance, and variable expressivity. Digital anomalies are almost always present. The gene for FS is localized to a ...
In this study development of the semilunar plica was examined histologycally by making sections through the eyes of eleven foetuses at different stages of gestation, two newborns and an old man. We found that in the early stages of its development the semilunar fold covered a bigger part of the orbit and later did not keep up with the growth of the eyeball and the lids. In its development three ...
PurposeThe inherited bone marrow failure syndromes (IBMFS) are a heterogeneous group of genetic disorders that share the inability of the bone marrow to produce an adequate number of blood cells. The four most frequent syndromes are Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA) and Shwachman-Diamond syndrome (SDS). All four syndromes have been associated with ...
Sendo a Astronomia uma das ci�ncias mais antigas da humanidade, e considerando sua import�ncia hist�rica e cultural, � de extrema relev�ncia que t�picos relacionados a ela sejam tratados nas escolas. Embora os Par�metros Curriculares Nacionais do Ensino M�dio (PCN-EM) e as Orienta�iacute;es Complementares aos Par�metros (PCN+) apontem a import�ncia de uma ...
A astronomia, embora seja uma ci�ncia popular, com in�meras descobertas de interesse p�blico, ainda � apresentada desconsiderando-se os aspectos hist�ricos e cient�ficos relacionados ao seu desenvolvimento, sendo geralmente veiculada nos meios de comunica��o de maneira pouco esclarecedora e n�o raro com imprecis�es. Neste trabalho analisou-se a concep��o de um grupo de ...
Em 2002 o ensino de Astronomia foi proposto como um dos temas estruturadores pelos Par�metros Curriculares Nacionais e sugerido como facilitador para que o aluno compreendesse a F�sica como constru��o humana e parte do seu mundo vivencial, mas raramente seus conceitos foram ensinados. A presente pesquisa discute dois aspectos relacionados � abordagem de Astronomia. O ...
O estudo da distribui��o de metalicidades de gigantes K no Bojo indica um largo intervalo com valores entre 0.1 a 10 vezes o valor solar. As raz�es elementais Ca/Fe, Si/Fe, Mg/Fe s�o t�picas de estrelas do halo, apontando para um processo r�pido de enriquecimento, via estrelas masssivas (SN's tipo II). No entanto, este cen�rio n�o combina com os resultados derivados de nebulosas ...
We studied 40 patients with the clinical diagnostic of chronic urticaria from January to June, 1995 and excluded 4 patients who did not fulfilled the entry criteria. 29 women and 7 men with age from 4 to 62 years old. We performed a basic clinics history and the oral challenge tests (PRO) included Tartrazine (Ta), Sodium Metabisulfite (MS), Potasium Metabisulfite (MP) and Sodium Bisulfite (BS) in ...
A cases of myotubular myopathy in a 10 years old girl is reported. Clinically, palpebral ptosis, ocular movements limitation, facial diplegia, positivity of Gower's test, muscular hypotrophy distal, foot drop and deep absent reflexes were found. These signals were described by most of authors, besides symptoms referred, like partial urinary incontinency and frequent vomits. ...
Authors report a series of 192 eyelid epithelial tumors (187 patients) treated by curietherapy (192 iridium) at the Centre Claudius-Regaud, from January 1977 to December 1982. Curietherapy is an interstitial radiotherapy technique which inserts radio-active lines directly in the epithelial area. The first part of treatment consisted in using disposable vascular catheters as after loading ...
The appearance of the Acquired Immune Deficiency Syndrome (AIDS) meant a revolution in medicine, which has also affected Ophthalmology: the routine presence of ophthalmological pathologies which until then had been exceptional, such as retinitis due to cytomegalovirus (CMV), and the appearance of other new pathologies such as progressive outer retinal necrosis (PORN). The generalised use of high ...
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 ...
Ocular abnormal head posture (AHP) or torticollis is a frequent sign in pediatric pathology The incidence is 5.6% in ophthalmological practice and 3.19% in pediatric ophthalmological practice. The abnormal head posture is adopted to improve visual acuity maintain binocular single vision, center residual visual field with the body or for cosmetic reasons. Face turn is the most frequent abnormal ...
The genomic architecture of the 10q22q23 region is characterised by two low-copy repeats (LCRs3 and 4), and deletions in this region appear to be rare. We report the clinical and molecular characterisation of eight novel deletions and six duplications within the 10q22.3q23.3 region. Five deletions and three duplications occur between LCRs3 and 4, whereas three deletions and three duplications have ...
Blepharophimosis-mental retardation syndromes (BMRS) include a group of clinically and etiologically heterogeneous conditions, which can occur as isolated features or as part of distinct disorders displaying multiple congenital anomalies. We report on two siblings, a 6-year-old girl and an 18-month-old male, presenting with overlapping clinical findings. Major characteristics included facial ...
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 ...
One of the recently recognized microdeletion syndromes is the 16p11.2 deletion syndrome (593?kb; ?29.5?Mb to ?30.1?Mb), associated with developmental delay, autism spectrum disorder, epilepsy, and obesity. Less frequently reported is a smaller 220?kb deletion, adjacent and distal to this 16p11.2 deletion, which has been referred to as the atypical 16p11.2 deletion (220?kb; ?28.74?Mb to ?28.95?Mb). ...
Down syndrome is usually caused by complete trisomy 21. Rarely, it is due to partial trisomy of the segment 21q22. We report on a 33-month-old girl with tetrasomy 21 pter {yields} q22.1 resulting from an extra chromosome idic(21)(q22.1). She has craniofacial traits typical of Down syndrome, including brachycephaly, third fontanel, upward slanting palpebral fissures, round ...
CASE DESCRIPTION - A 6-year-old castrated male Llewelyn Setter was evaluated because of an acute onset of myalgia and respiratory distress. CLINICAL FINDINGS - Physical examination revealed a stiff stilted gait, swollen muscles that appeared to cause signs of pain, panting, and ptyalism. The dog had a decrease in palpebral reflexes bilaterally and a decrease in myotatic ...
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 ...
Skin reddening with or without additional changes such as pinpoint intracutaneous hemorrhages and/or minute superficial scratches was observed in 165 out of 739 physical examinations (reddening with additional changes: n = 81; reddening only: n = 84). The most common site where reddening was observed was the neck region (reddening with additional changes: n = 30; reddening only: n = 34). In over ...
Individuals with heavy prenatal alcohol exposure can experience significant deficits in cognitive and psychosocial functioning and alterations in brain structure that persist into adulthood. In this report, data from 99 participants collected across three sites (Los Angeles and San Diego, California, and Cape Town, South Africa) were analyzed to examine relationships between brain structure, ...
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 ...
We describe an autopsy case in which a patient with diabetic ketoacidosis (DKA) was found in a head-down position. A female in her late 70s was found dead in her home in a supine position on the kitchen floor. The upper part of her body was hanging down over the edge of the kitchen floor to the backyard through the open window. External examination revealed congestion of the head and upper region ...
BackgroundPartial trisomy of the short arm of chromosome 9 is among the most common autosomal structural chromosomal anomalies leading to chromosomal imbalance in human. Clinical characteristics are craniofacial dysmorphism including hypertelorism, prominent nose, deep-set eyes, and down-slanting palpebral fissures. The degree of clinical severity in partial trisomy 9p roughly ...
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 ...
Noonan syndrome describes a rare multisystem condition that manifests with Turner syndrome phenotype combined with numerous systemic and facial characteristics. The most common systemic findings include cardiac defects, short stature, chest deformity, hearing loss, and bleeding diatheses. Patients with Noonan syndrome are also at a greater risk of developing various types of malignancies. Facial ...
We newly prepared a unique one-side-coated insert that releases drug from only uncoated side. The purpose of this study is to determine whether ocular and systemic absorption of ophthalmic drug could be altered by an inserting direction of the insert in rabbit eyes. One-side-coated insert was prepared by attaching a polypropylene tape on the one side of the polymer disc of poly(2-hydroxypropyl ...
ABSTRACT: 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 ...
Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects ...
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 ...
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 ...
The del(9p) syndrome is characterized by mental retardation, trigonocephaly, midface hypoplasia, upward slanting palpebral fissures, a long philtrum, and is typically associated with a breakpoint at 9p22. Seventeen unrelated patients with del(9p) and their parents were analyzed by high resolution chromosome studies, molecular analysis using a series of highly polymorphic ...
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 ...
Meckel syndrome (MKS) is a rare lethal autosomal recessive disorder characterized by the presence of occipital encephalocele, cystic kidneys, fibrotic changes of the liver and polydactyly. Joubert syndrome (JS)-related disorders (JSRDs) or cerebello-oculo-renal syndromes (CORS) are a group of recessively inherited conditions characterized by a molar tooth sign (MTS) on cranial MRI, a set of core ...
TARP syndrome, comprising Talipes equinovarus, atrial septal defect (ASD), Robin sequence (micrognathia, glossoptosis, and cleft palate), and persistence of the left superior vena cava, is an X-linked condition with pre- or postnatal lethality in affected males. Based on linkage studies and massively parallel sequencing of X-chromosome exons in two families, the disease-causing gene was identified ...
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 ...
The phenotype of Gorlin-Goltz syndrome or basal cell nevus syndrome (BCNS, #109400, OMIM), a Mendelian trait due to PTCH mutations has been reported in a few cases of interstitial deletion of chromosome 9q. We present an 11-year-old girl with clinical features consistent with BCNS including bridging of sella turcica, biparietal bossing, downward slanting palpebral fissures, ...
Deletions of the 22q11.2 region distal to the 22q11.21 microdeletion syndrome region have recently been described in individuals with mental retardation and congenital anomalies. Because these deletions are mediated by low-copy repeats (LCRs), located distal to the 22q11.21 DiGeorge/velocardiofacial microdeletion region, duplications are predicted to occur with a frequency equal to the deletion. ...
Total ginsenosides have been shown to have therapeutic actions as antidepressants. We report a major active ingredient of total ginsenosides, the ginsenoside Rb3 (Rb3), which may have antidepressant-like effects. Using the forced swim test, tail suspension test, and learned helplessness procedure, we found that Rb3 had significant anti-immobility effects in mice in the forced swim and tail ...
Fluorescence in situ hybridization (FISH) was used to delineate the structural rearrangement of two satellited 1p chromosomes identified in a prenatal and in a postnatal case. Prenatal case: chromosome analysis of amniotic cells on a 37-year-old G2, PO, SAb1 woman, referred for advanced maternal age, revealed a 46,XX,1ps karyotype. Parental chromosome analyses showed that the satellited chromosome ...
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease caused by FOXL2 gene mutations. However, only one missense mutation has been found in family with BPES type I. Here, we report a novel missense mutation in the forkhead domain of the FOXL2 gene (c.340A > G, NM_023067) resulted in the replacement of lysine by glutamic acid at amino acid position 114 ...
Background? The periorbital area is a barometer of chronologic and environmental age for which patients usually seek rejuvenation; fractional CO(2) laser plays a key role among the variety of available dermatologic treatments. Objectives? The purpose of this study is to evaluate the efficacy and safety of Fractional CO(2) laser in eyelid tightening and periorbital wrinkles. Methods? Forty-five ...
Purpose.The rat facial nerve (CN VII) controls the orbicularis oculi (OO) muscle, which contracts to close the palpebral fissure during blinking. It was recently observed that rats are able to achieve nearly complete eye closure shortly after CN VII lesion, and hypothesized that the retractor bulbi (RB) muscle assumes an important compensatory role after CN VII lesion. This ...
Gopher tortoise (Gopherus polyphemus) populations on four tracts of public lands in northern and central Florida were studied from 1998 to 2001 to assess the effects of mycoplasmal upper respiratory tract disease (URTD). Adult gopher tortoises (n=205) were marked for identification, serum and nasal flush samples were obtained for mycoplasmal diagnostic assays, and clinical signs of URTD (nasal ...
We report on 2 similarly affected cousins with a compound imbalance resulting from a familial t(5;9)(q34;p23) and entailing both an ?17-Mb 5q terminal duplication and an ?12-Mb 9p terminal deletion as determined by G-banding, subtelomere FISH, and aCGH. The proband's karyotype was 46,XX,der(9)t(5;9)(q34;p23)mat.ish der(9)t(5;9)(q34;p23)(9pter-,5qter+).arr 5q34q35(163,328,000-180,629,000)�3, ...
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 ...
We describe a newborn boy with multiple anomalies, including bilateral split foot and an interstitial deletion of chromosome 2 (q24.2-q31.1). Four additional cases in 2 families involving similar deletions have been reported. Bilateral digital anomalies of hands and feet were seen in all 5 cases, including a wide cleft between the first and second toes, wide halluces, brachsyndactyly of the toes, ...
Deletions of 15q11-q13 typically result in Angelman syndrome when inherited from the mother and Prader-Willi syndrome when inherited from the father. The critical deletion region for Angelman syndrome has recently been restricted by a report of an Angelman syndrome patient with a deletion spanning less than 200 kb around the D15S113 locus. We report here on a mother and son with a deletion of ...
IntroductionTrisomy 18 is the second most common autosomal trisomy after Down syndrome (trisomy 21). A variety of anomalies of the central nervous system are observed in cases of trisomy 18. The association between trisomy 18 and congenital hydrocephalus is very rare.Case presentationA 4-month-old male Egyptian baby boy was referred to Assiut University hospital for evaluation of his large-sized ...
Members of the Kr�ppel-like family of transcription factors regulate diverse developmental processes in various organs. Previously, we have demonstrated the role of Klf4 in the mouse ocular surface. Herein, we determined the role of the structurally related Klf5, using Klf5-conditional null (Klf5CN) mice derived by mating Klf5-LoxP and Le-Cre mice. Klf5 mRNA was detected as early as embryonic ...
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 ...
In this paper we present the detailed clinical and cytogenetic analysis of a prenatally detected complex Congenital Diaphragmatic Hernia (CDH) patient with a mosaic unbalanced translocation (5;12). High-resolution whole genome SNP array confirmed a low-level mosaicism (20%) in uncultured cells, underlining the value of array technology for identification studies. Subsequently, targeted ...
This dissertation discusses two related clinical applications of visible regime diffuse reflectance spectroscopy as well as two new configurations of liquid crystal microspectrometer suitable in these applications. Total hemoglobin concentration can be determined, and thus anemia diagnosed, using diffuse reflectance signals from the inner lining of the eyelid, the palpebral ...
A small, mosaic, C-band negative marker chromosome was detected in amniocyte cultures during prenatal diagnosis due to advanced maternal age. Following spontaneous premature labor at 29 weeks gestation, a dysmorphic infant was delivered, with flat nasal bridge, short palpebral fissures, micrognathia, high forehead, low-set ears, telecanthus and corneal dystrophy. Additional ...
The clinical features of this female patient (severe developmental delay, prominent finger pads, long palpebral fissures, short stature and history of hypotonia) suggested a diagnosis of Kabuki Make-up syndrome (KMS). Cytogenetic analyses showed this patient had a small ring X chromosome in 83% of cells and the parents were karyotypically normal. We hypothesized that deletion ...
Submicroscopic duplications of the genomic interval deleted in Miller-Dieker syndrome (MDS) were recently identified by array-based comparative genomic hybridization (a-CGH) studies, describing new genomic disorders in the MDS locus. These rearrangements of varying size, from 59-88 kb to 4 Mb, were non-recurrent, and appear to result from diverse molecular mechanisms. Only five patients had ...
Partial absence of the sacrum is a rare congenital defect that also occurs as an autosomal-dominant trait, whereas imperforate/ectopic anus is a relatively common malformation, usually observed in multiple congenital anomalies syndromes. We report on a girl born to healthy consanguineous parents (first cousins once removed) with anal imperforation and associated rectovaginal fistula and partial ...
Trisomy 13, or Patau syndrome is a rare chromosomal disorder characterized by a triad of cleft lip and palate, postaxial polydactyly and microcephaly. Complete, partial, or mosaic forms of the disorder can occur. Mosaic trisomy 13 is very rare, it occurs in only 5% of all patients with trisomy 13 phenotype. Metopic synostosis (MS) is premature fusion of the metopic suture, which is part of the ...
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 ...
Distal duplication, or trisomy 15q, is an extremely rare chromosomal disorder characterized by prenatal and postnatal overgrowth, mental retardation, and craniofacial malformations. Additional abnormalities typically include an unusually short neck, malformations of the fingers and toes, scoliosis and skeletal malformations, genital abnormalities, particularly in affected males, and, in some ...
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 ...
We present a 12-year-old girl with de novo karyotype 46,XX,del(12)(p11.1p12.1). Array CGH revealed in addition to a 10.466?Mb interstitial deletion on 12p11.1?12p12.1 a 0.191?Mb deletion on 2p16.3. The girl presented with mild facial dysmorphism consisting of microcephaly, hypertelorism, downslanting palpebral fissures, strabismus, broad nasal base, bulbous nose, short ...
BackgroundOnly 29 cases of constitutional 9q22 deletions have been published and all have been sporadic. Most associate with Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS, MIM #109400) due to haploinsufficiency of the PTCH1 gene (MIM *601309).Methods and ResultsWe report two mentally retarded female siblings and their cognitively normal father, all carrying a similar 5.3 Mb ...
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 ...
