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1.
Graefes Arch Clin Exp Ophthalmol ; 262(2): 615-621, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37782346

RESUMO

PURPOSE: Oculoplastic surgeons excise and reconstruct eyelid tumors, although plastic surgeons have traditionally managed these cases. Current demand of this surgery is growing, and planning referral services is a health management necessity. This pilot study retrospectively reviewed same population eyelid specimens excised by both disciplines comparing data. METHODS: Clinical and epidemiologic features of 1423 eyelid lesions biopsied between 2015- 2020 in Emek Medical Center (EMC), Israel were reviewed. RESULTS: Among 1423 specimens, 1210 (85.0%) were benign and 213 (15.0%) were malignant/pre-malignant. Mean age at diagnosis was significantly higher in malignant tumors than in benign tumors (76 and 59 years respectively, p value < 0.001). The most common benign eyelid lesions were soft fibroma (20.1%), seborrheic keratosis (11.0%) and melanocytic nevus (10.3%). The most common malignant/pre-malignant eyelid tumors were basal cell carcinoma (BCC) (9.2%), actinic keratosis (2.6%) and Bowen's disease (1.9%). Ophthalmology removed 37 malignant/pre-malignant lesions (5.4%) out of 683 compared to plastics removing 142 malignant/pre-malignant lesions out of 740 (19.2%) specimens. Eyelid malignancy in the plastics department was significantly higher than in the ophthalmology department (p value < 0.001). 270 (70.0%) lesions caused by UV exposure were removed by plastics and 116 (30.0%) were removed by ophthalmology (p value < 0.001). CONCLUSIONS: Eyelid lesions in patients aged 76 or older are more likely to be malignant. Ophthalmology eyelid specimens in younger patients are more commonly benign and related to inflammation. Specimens from the plastics department are more commonly malignant, related to UV-exposure, and are from older patients. This difference may be due to a misconception that plastic surgeons have more eyelid cancer reconstruction experience than oculoplastic surgeons, or less awareness of the oculoplastic expertise available today.


Assuntos
Carcinoma Basocelular , Neoplasias Palpebrais , Oftalmologia , Neoplasias Cutâneas , Humanos , Neoplasias Palpebrais/epidemiologia , Neoplasias Palpebrais/cirurgia , Estudos Retrospectivos , Projetos Piloto , Pálpebras/cirurgia , Pálpebras/patologia , Carcinoma Basocelular/epidemiologia , Carcinoma Basocelular/cirurgia , Carcinoma Basocelular/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia
2.
Isr Med Assoc J ; 25(1): 42-46, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36718736

RESUMO

BACKGROUND: Chronic suppurative otitis media is a long-standing middle ear infection with a perforated tympanic membrane. Tympanoplasty is the mainstay of treatment. Most surgeons prefer to operate on dry ears; however, this may be difficult to achieve. OBJECTIVES: To investigate the effect of otorrhea and positive cultures on the outcome of tympanoplasty. METHODS: This retrospective analysis reviewed patients with chronic suppurative otitis media who underwent tympanoplasty 2008-2015. Patients were divided into three groups: active discharge and bacterial growth, active discharge without bacterial growth, and no ear discharge. Surgical outcomes were compared among the groups. RESULTS: Among 101 patients included, 43 ears (42.6%) had discharge preoperatively, 58 (57.4%) were dry. Overall closure rate was 81.2% (82/101). Preoperative active discharge closure rate was 88.3% (38/43) and without discharge 75.9% (44/58). There were 38 positive cultures preoperatively and five negative cultures. Cultures were not obtained in 58 cases. Success rates were 89.5%, 80%, and 75.9%, respectively. No significant difference was found between patients who had positive or negative cultures before the procedure (P > 0.48) or among the three groups (P = 0.25). The most common bacteria were Pseudomonas aeruginosa (n=17), followed by Staphylococcus species (n=10). None was significantly associated with operative failure (P = 0.557). The postoperative air threshold difference was not affected by culture results (P = 0.3). CONCLUSIONS: Tympanoplasty success rates and postoperative air threshold differences were not affected by the presence of preoperative otorrhea or positive ear cultures. Surgery can be performed even when the ear is not dry.


Assuntos
Otite Média Supurativa , Otite Média , Humanos , Timpanoplastia/efeitos adversos , Timpanoplastia/métodos , Otite Média Supurativa/cirurgia , Otite Média Supurativa/complicações , Otite Média Supurativa/microbiologia , Estudos Retrospectivos , Resultado do Tratamento , Otite Média/complicações , Doença Crônica
3.
Aesthet Surg J ; 41(6): NP559-NP566, 2021 05 18.
Artigo em Inglês | MEDLINE | ID: mdl-32887989

RESUMO

BACKGROUND: Dermal filler injections continue to grow in popularity as a method of facial rejuvenation. This increase in the number of injections performed has resulted in an increasing number of types of filler-related complications. OBJECTIVES: We report a series of cases where dermal filler injected in the face migrated to the orbit. Treatment methods and possible mechanisms of this newly reported complication are discussed. METHODS: A retrospective, multicenter analysis was performed on patients with dermal filler migration to the orbit after facial filler injections. RESULTS: Seven patients (6 females, 1 male; age range, 42-67 years) presented with orbital symptoms after filler injection and were subsequently found to have dermal filler in the orbit. Four out of 7 patients underwent orbitotomy surgery, 1 patient underwent lacrimal surgery, 1 patient had strabismus surgery, and 1 patient was treated with hyalurodinase injections. All patients have remained stable postoperatively. CONCLUSIONS: Orbital complications secondary to migrated filler may occur long after the initial procedure. Because the site of the complication is distant from the injection site, patients and physicians may not immediately make the connection. Furthermore, this may lead to unnecessary examinations and a delay in diagnosis while looking for standard orbital masses. Dermal fillers should therefore be considered in the differential diagnosis of patients presenting with new-onset orbital masses.


Assuntos
Técnicas Cosméticas , Preenchedores Dérmicos , Adulto , Idoso , Técnicas Cosméticas/efeitos adversos , Preenchedores Dérmicos/efeitos adversos , Feminino , Humanos , Ácido Hialurônico , Masculino , Pessoa de Meia-Idade , Órbita/diagnóstico por imagem , Estudos Retrospectivos
4.
Int Ophthalmol ; 41(11): 3599-3605, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34173153

RESUMO

PURPOSE: The pathogenesis of ocular surface squamous neoplasia is not fully understood. Therefore, we evaluated the role of oncogenic viruses in the pathogenesis of ocular surface squamous neoplasia in Israel. METHODS: Patients with ocular surface squamous neoplasia were enrolled in this retrospective study. The specimens were taken during 2004-2015 from two big centers: Emek Medical Center, Afula and the Hadassah Medical Center, Jerusalem. All the specimens (totally 26) were analyzed by immunohistochemistry for evidence of oncogenic viruses that included Human Papilloma virus, Herpes Simplex virus and Cytomegalovirus infection and 14 samples were examined by polymerase chain reaction. In addition, all the samples were examined for Epstein Barr virus infection by immunohistochemistry and Epstein Barr encoding region test. RESULTS: Twenty-six patients were included with a mean age of 61.81 [Formula: see text] 3.83 years (mean [Formula: see text]. Immunohistochemistry staining and Epstein Barr encoding region test did not detect any of the oncogenic viruses in the 26 samples. Human Papilloma virus-16 and -18, and Herpes Simplex virus were detected by polymerase chain reaction in 14.2%, 7% and 7%, respectively. CONCLUSION: We conclude from our study that oncogenic viruses may play a role in the pathogenesis of ocular surface squamous neoplasia in Israel.


Assuntos
Carcinoma de Células Escamosas , Infecções por Vírus Epstein-Barr , Neoplasias Oculares , Carcinoma de Células Escamosas/epidemiologia , Pré-Escolar , Neoplasias Oculares/epidemiologia , Herpesvirus Humano 4 , Humanos , Vírus Oncogênicos , Estudos Retrospectivos
5.
Int Ophthalmol ; 38(1): 271-277, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28364339

RESUMO

OBJECTIVE: Evaluation of the medical data of patients with orbital and adnexal lymphoma. DESIGN: Cohort study of all cases diagnosed with orbital or adnexal lymphoma at Meir Medical Center between 1993 and 2007. PARTICIPANTS: Twenty-six patients, with intraorbital or subconjunctival masses with orbital involvement, were examined and followed up between 1 and 8 years. MATERIALS AND METHODS: Examined data included: clinical presentation, age, gender, imaging, tumor location, surgical management, and pathological diagnosis. RESULTS: Presenting signs and symptoms included proptosis, eyelid lesions, tearing, chemosis, decreased visual acuity, ptosis, pain, squint, and optic nerve compression. In five cases, lymphoma was misdiagnosed on neuroimaging. Bone changes were seen in four patients. All cases were B cell lymphomas; with the majority (22 cases) of small B cell type; consisting of primary extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue and two cases of small cell lymphoma. One small cell lymphomas was of follicular type on a background of CLL, and the other was CLL/SLL type. Fourteen cases were primary orbital disease, and 12 cases were systemic disease. Macroscopic appearance of lymphoma at open biopsy was characteristic in most cases. Flow cytometry phenotyping gave rapid reliable diagnosis of the disease. CONCLUSIONS: Epiphora or chemosis in the presence of an orbital mass should alert the ophthalmologist to suspect lymphoma. Lymphoma may be easily misinterpreted on neuroimaging for other diseases. Bone changes seen on CT are more common than is generally perceived. Macroscopic appearance at open biopsy was characteristic.


Assuntos
Linfoma de Zona Marginal Tipo Células B/diagnóstico , Estadiamento de Neoplasias , Neoplasias Orbitárias/diagnóstico , Tomografia Computadorizada por Raios X/métodos , Idoso , Idoso de 80 Anos ou mais , Biópsia , Terapia Combinada , Diagnóstico Diferencial , Feminino , Citometria de Fluxo , Seguimentos , Humanos , Linfoma de Zona Marginal Tipo Células B/terapia , Masculino , Pessoa de Meia-Idade , Neoplasias Orbitárias/terapia , Estudos Retrospectivos , Fatores de Tempo
6.
Graefes Arch Clin Exp Ophthalmol ; 255(9): 1811-1817, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28623400

RESUMO

BACKGROUND: Eyelid motion analysis can provide important information about ophthalmic, neurologic, and systemic diseases. Routine assessment of eyelid function is currently based mainly on clinical examination estimating Levator Function and static palpebral fissure measurements. Most clinical tools developed to date are cumbersome expensive and difficult to operate. Currently there is no widely available, affordable device providing user friendly precision based evaluation of eyelid kinematics. Our goal is to develop a novel device for evaluation of eyelid kinematics providing rapid defined diagnosis of diseases involving eyelid movement. METHODS: A real-time prototype eyelid motion monitoring system was designed based on magnetic field sensors detecting movement of a tiny magnet located on the upper eyelid. Motion is recorded and analyzed using specially developed hardware and software, respectively, enabling both real-time and off-line data presentation. The Eyelid Motion Monitor correlates between blinking characteristics of eyelid movement and the output voltages produced by the system. Blink detection is defined as peak in voltage, caused by eyelid closure or opening. The device was tested on 20 healthy volunteers with normal clinical blinking patterns. RESULTS: The Eyelid Motion Monitor succeeded in detecting full blink motion. The system easily extracts different parameters of eyelid kinetics. CONCLUSIONS: An inexpensive prototype novel device was developed for monitoring and analyzing eyelid motion characteristics, including the inter-blink interval, eye closing/opening duration and entire blink duration. The device should allow early objective non- invasive diagnosis and follow-up of disease progression. It could be of great potential value in many ophthalmic, neurologic, and systemic diseases.


Assuntos
Piscadela/fisiologia , Movimentos Oculares/fisiologia , Pálpebras/fisiologia , Monitorização Fisiológica/instrumentação , Adolescente , Adulto , Idoso , Desenho de Equipamento , Feminino , Voluntários Saudáveis , Humanos , Imãs , Masculino , Pessoa de Meia-Idade , Adulto Jovem
7.
Isr Med Assoc J ; 18(1): 27-31, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26964276

RESUMO

UNLABELLED: Background: One of the most alarming ocular injury trends in recent years has been the proliferation of paintball guns and the proportional increase in the number of ocular eye injuries caused by paintballs. OBJECTIVES: To describe five cases of paintball eye injuries that resulted in loss of functional vision in four of them. METHODS: We conducted a retrospective review of the clinical course in five patients with paintball eye injuries treated in the ophthalmology departments of two medical centers. RESULTS: Five young males were evaluated for paintball injuries caused by blunt trauma. There was one case of full-thickness laceration (globe rupture). Four patients required one to five surgical interventions: three of these involved the removal of traumatic cataract including two eyes with significant zonular dehiscence treated by lens capsule conservation using anchoring devices, one retinal surgery and two glaucoma filtration surgeries. However, final visual outcome was not favorable due to irreversible retinal damage. CONCLUSIONS: Paintball trauma often results in significant ocular injury and loss of functional vision despite successful surgical intervention. Most injuries occur in under-supervised settings and are easily preventable. Improved safety measures, strict regulation enforcement and appropriate public education could prevent such serious damage.


Assuntos
Traumatismos em Atletas/etiologia , Traumatismos Oculares/etiologia , Jogos e Brinquedos/lesões , Adolescente , Adulto , Traumatismos em Atletas/patologia , Traumatismos em Atletas/cirurgia , Traumatismos Oculares/patologia , Traumatismos Oculares/cirurgia , Dispositivos de Proteção dos Olhos , Seguimentos , Humanos , Masculino , Pintura , Estudos Retrospectivos , Adulto Jovem
8.
Graefes Arch Clin Exp Ophthalmol ; 253(5): 811-6, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25673253

RESUMO

PURPOSE: In this pilot study we aimed to examine the association between eyelid fornices triamcinolone injections and clinical activity score in patients with active thyroid orbitopathy. METHODS: Adult patients aged 18 years or older, diagnosed with active thyroid orbitopathy and a clinical activity score ≥ 3 were recruited to this interventional prospective pilot study between 2010 and 2013. Three upper and lower fornices injections of triamcinolone acetate 20 mg (40 mg/ml) were administered at 4-week intervals. Each patient included was followed up for a period of 6 months. Clinical activity score was estimated at each monthly visit. Extraocular muscle thickness was measured by ultrasound examination at entrance and at the last visit. RESULTS: Eleven eyes of seven patients were included in our study. Initial clinical activity score was 3.81 ± 1.80 and fell to 0.63 ± 0.72 during a 6-month follow-up. There was a significant difference in clinical activity score between the baseline examination and the following visits (p-value < 0.0001). Ultrasound examination showed a significant decrease in medial and lateral rectus muscle thickness following treatment; median difference -0.93 and -0.58, respectively (p-value < 0.005). Lid retraction was reduced by the treatment. Side effects included a transitory increase in intraocular pressure in one patient, which was controlled with topical medication. CONCLUSIONS: In this pilot study a series of three separate triamcinolone fornix injections at 4-week intervals reduces the inflammatory effects of thyroid orbitopathy, as measured by clinical activity score. The treatment was simple, effective, and safe eliminating the side effects associated with systemic corticosteroid use.


Assuntos
Glucocorticoides/uso terapêutico , Oftalmopatia de Graves/tratamento farmacológico , Doenças Orbitárias/tratamento farmacológico , Triancinolona Acetonida/uso terapêutico , Pálpebras , Feminino , Glucocorticoides/efeitos adversos , Hemoglobinas Glicadas/análise , Oftalmopatia de Graves/diagnóstico , Oftalmopatia de Graves/fisiopatologia , Humanos , Injeções Intraoculares , Masculino , Pessoa de Meia-Idade , Músculos Oculomotores/diagnóstico por imagem , Doenças Orbitárias/diagnóstico , Doenças Orbitárias/fisiopatologia , Projetos Piloto , Estudos Prospectivos , Triancinolona Acetonida/efeitos adversos , Ultrassonografia
9.
Int Ophthalmol ; 33(4): 349-54, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23275189

RESUMO

Intraocular pressure is affected by corneal thickness and biomechanics. Following ablative corneal refractive surgery, corneal structural changes occur. The purpose of the study is to determine the relationship between the mean central corneal thickness (CCT) and the change in intraocular pressure measurements following various corneal ablation techniques, using different measurement methods. Two hundred myopic eyes undergoing laser in situ keratomileusis (LASIK) or photorefractive keratectomy (PRK) were enrolled into a prospective, non-randomized study. Corneal parameters examined included full ocular examination, measurement of CCT, corneal topography, corneal curvature and ocular refractivity. Intraocular pressure measurements were obtained using three different instruments-non-contact tonometer, Goldmann applanation tonometer and TonoPen XL (TonoPen-Central and TonoPen-Peripheral). All measurements were performed pre-operatively and 4 months post-operatively. Post-operative intraocular pressure was significantly lower than pre-operative values, with all instruments (p value < 0.001, Student's t-test). The post-operative intraocular pressure decrease was smallest using the Tonopen-XL compared to the Goldmann applanation tonometer and non-contact tonometer (p value < 0.001, ANOVA). Intraocular pressure readings are significantly reduced following corneal ablation surgery. We determined in our myopic patient cohort that the TonoPen XL intraocular pressure measurement method is the least affected following PRK and LASIK as compared to other techniques.


Assuntos
Córnea/patologia , Pressão Intraocular/fisiologia , Ceratomileuse Assistida por Excimer Laser In Situ , Lasers de Excimer/uso terapêutico , Miopia/fisiopatologia , Ceratectomia Fotorrefrativa , Adulto , Análise de Variância , Paquimetria Corneana , Topografia da Córnea , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Miopia/cirurgia , Estudos Prospectivos , Adulto Jovem
10.
Harefuah ; 152(8): 486-9, 498, 497, 2013 Aug.
Artigo em Hebraico | MEDLINE | ID: mdl-24167936

RESUMO

Lebers hereditary optic neuropathy (LHON) is a maternally inherited disease characterized by subacute severe visual loss in both eyes, which usually manifests in young adulthood. The disease has maternal inheritance due to mitochondrial DNA mutation. The final diagnosis is genetic. There is still no proven treatment, but there is significant progress in developments on the genetics of the disease to reach gene therapy. In this article we review the latest literature relevant to this disease.


Assuntos
DNA Mitocondrial/genética , Atrofia Óptica Hereditária de Leber/fisiopatologia , Transtornos da Visão/etiologia , Terapia Genética/métodos , Humanos , Mutação , Atrofia Óptica Hereditária de Leber/genética , Índice de Gravidade de Doença , Adulto Jovem
11.
Sci Rep ; 13(1): 18059, 2023 10 23.
Artigo em Inglês | MEDLINE | ID: mdl-37872236

RESUMO

Molluscum contagiosum presenting as a periorbital region abscess is unusual. The virus generally causes a self-limiting localized disease in children. Presentation as an abscess has been reported mainly in immunocompromised patients. We performed a retrospective study of ten children treated for Molluscum contagiosum infection presenting as periorbital abscess. Data investigated included age, immunocompetence, systemic antibiotic treatment, clinical findings, and histopathology. All children were immunocompetent. Bacterial cultures taken in six of the ten children were positive in two. Seven patients received oral antibiotics before presentation but required IV antibiotics on admission. One patient received IV antibiotics only. All antibiotic treatment had very limited effect. Two patients had no antibiotic treatment. CT imaging in one case where orbital cellulitis was suspected showed no significant intraorbital findings with anterior involvement only. Nine out of ten children had surgery and intra-operative cryotherapy at our center with immediate improvement and recovery. One child whose parents initially refused surgical excision had initial limited clinical improvement of periorbital swelling with antibiotics. However, the lesions were excised shortly following discharge from our hospital at another medical center with a complete cure. Molluscum is a cause of periorbital abscess in immunocompetent children which should be part of the differential diagnosis in periorbital/adnexal infection. Antibiotic treatment has a limited effect, and the abscess is most likely a virally triggered reaction. Surgical excision and intra-operative cryotherapy are curative of the disease in our experience.


Assuntos
Oftalmopatias , Molusco Contagioso , Humanos , Criança , Molusco Contagioso/diagnóstico , Molusco Contagioso/terapia , Molusco Contagioso/patologia , Abscesso/diagnóstico , Abscesso/terapia , Estudos Retrospectivos , Antibacterianos
12.
Am J Ophthalmol ; 254: 31-35, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37257549

RESUMO

PURPOSE: To determine whether there is an increased incidence of Demodex of the eyelashes among patients after cataract extraction surgery. DESIGN: Prospective, noncomparative clinical study. METHODS: A cohort of patients who underwent cataract extraction surgery had several eyelashes removed preoperatively that were examined independently by the hospital laboratory for the presence of the Demodex mite. This was repeated 3 weeks after surgery. During several postoperative weeks, patients received the standard treatment of steroid drops alone for a period as individually required. RESULTS: A total of 62 patients were included in the study (31 men and 31 women), with a mean age of 71.04 years (range, 47-87). In the group positive for Demodex, the male-to-female ratio was 2:3 (P = .2772). Demodex colonization was observed in 22.58% of samples before cataract surgery and in 32.26% after cataract surgery and topical postoperative steroid therapy (P = .0143). CONCLUSIONS: There is a statistically significant increase in Demodex colonization of eyelashes after cataract surgery and postoperative topical steroid treatment. Although Demodex colonization does not necessarily cause blepharitis, our findings of increased colonization should raise the possibility of Demodex blepharitis being considered by ophthalmologists in patients with chronic postoperative eye discomfort after cataract surgery. This study was carried out at the Emek Medical Center.


Assuntos
Blefarite , Extração de Catarata , Catarata , Infecções Oculares Parasitárias , Pestanas , Infestações por Ácaros , Ácaros , Humanos , Masculino , Feminino , Idoso , Animais , Infestações por Ácaros/diagnóstico , Infestações por Ácaros/tratamento farmacológico , Infestações por Ácaros/epidemiologia , Estudos Prospectivos , Blefarite/diagnóstico , Blefarite/tratamento farmacológico , Blefarite/etiologia , Extração de Catarata/efeitos adversos , Infecções Oculares Parasitárias/diagnóstico , Infecções Oculares Parasitárias/tratamento farmacológico , Infecções Oculares Parasitárias/epidemiologia
13.
Mol Vis ; 18: 2915-21, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23233793

RESUMO

PURPOSE: To investigate the genetic basis for autosomal recessive cone-rod dystrophy in a consanguineous Israeli Christian Arab family. METHODS: Patients underwent a detailed ophthalmic examination, including funduscopy, electroretinography (ERG), visual field testing, and optical coherence tomography. Genome-wide homozygosity mapping using a single nucleotide polymorphism array was performed to identify homozygous regions shared between the two affected individuals. Mutation screening of the underlying gene was performed with direct sequencing. In silico analysis was used to predict the effect of the mutation on splicing. RESULTS: The family included two affected individuals. Clinical findings included progressive deterioration of visual acuity, photophobia, defective color vision, loss of central visual fields, pigmentary deposits localized mainly in the peripheral retina, a thinned and atrophic macular region, retinal vessel attenuation, absent ERG cone responses, and reduced ERG rod responses. Homozygosity mapping revealed several homozygous intervals shared among the affected individuals. One, a 12Mb interval on chromosome 10, included the CDHR1 gene. Direct sequencing revealed a single base transversion, c.1485+2T>G, located in the conserved donor splice site of Intron 13. This mutation cosegregated with the disease in the family, and was not detected in 208 Israeli Christian Arab control chromosomes. In silico analysis predicted that this mutation eliminates the Intron 13 donor splice site. CONCLUSIONS: Only three distinct pathogenic mutations of CDHR1 have been reported to date in patients with autosomal recessive retinal degeneration. Here we report a novel splice site mutation of CDHR1, c.1485+2T>G, underlying autosomal recessive cone-rod dystrophy in a consanguineous Israeli Christian Arab family. This report expands the spectrum of pathogenic mutations of the CDHR1 gene.


Assuntos
Árabes , Caderinas/genética , Mutação , Proteínas do Tecido Nervoso/genética , Sítios de Splice de RNA , Células Fotorreceptoras Retinianas Cones/metabolismo , Retinose Pigmentar/genética , Adulto , Proteínas Relacionadas a Caderinas , Estudos de Casos e Controles , Consanguinidade , Análise Mutacional de DNA , Eletrorretinografia , Feminino , Genes Recessivos , Homozigoto , Humanos , Íntrons , Israel , Linhagem , Células Fotorreceptoras Retinianas Cones/patologia , Retinose Pigmentar/etnologia , Retinose Pigmentar/patologia , Testes de Campo Visual
14.
Mol Vis ; 17: 3548-55, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-22219650

RESUMO

PURPOSE: This study investigated the genetic basis for Usher syndrome type 1 (USH1) in four consanguineous Israeli Arab families. METHODS: Haplotype analysis for all known USH1 loci was performed in each family. In families for which haplotype analysis was inconclusive, we performed genome-wide homozygosity mapping using a single nucleotide polymorphism (SNP) array. For mutation analysis, specific primers were used to PCR amplify the coding exons of the MYO7A, USH1C, and USH1G genes including intron-exon boundaries. Mutation screening was performed with direct sequencing. RESULTS: A combination of haplotype analysis and genome-wide homozygosity mapping indicated linkage to the USH1B locus in two families, USH1C in one family and USH1G in another family. Sequence analysis of the relevant genes (MYO7A, USH1C, and USH1G) led to the identification of pathogenic mutations in all families. Two of the identified mutations are novel (c.1135-1147dup in MYO7A and c.206-207insC in USH1G). CONCLUSIONS: USH1 is a genetically heterogenous condition. Of the five USH1 genes identified to date, USH1C and USH1G are the rarest contributors to USH1 etiology worldwide. It is therefore interesting that two of the four Israeli Arab families reported here have mutations in these two genes. This finding further demonstrates the unique genetic structure of the Israeli population in general, and the Israeli Arab population in particular, which due to high rates of consanguinity segregates many rare autosomal recessive genetic conditions.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Árabes , Mutação , Miosinas/genética , Proteínas do Tecido Nervoso/genética , Síndromes de Usher/genética , Alelos , Sequência de Bases , Proteínas de Ciclo Celular , Criança , Pré-Escolar , Mapeamento Cromossômico , Consanguinidade , Proteínas do Citoesqueleto , Análise Mutacional de DNA , Éxons , Feminino , Ligação Genética , Variação Genética , Haplótipos , Homozigoto , Humanos , Íntrons , Israel , Masculino , Dados de Sequência Molecular , Miosina VIIa , Linhagem , Síndromes de Usher/etnologia
15.
Biomolecules ; 11(8)2021 08 12.
Artigo em Inglês | MEDLINE | ID: mdl-34439864

RESUMO

Orbital (slow flow) cavernous venous hemangiomas (OCVH) are the most common benign orbital tumors in adults. The c-KIT is a tyrosine kinase receptor, which is expressed on several types of cells, is thought to play a key role in tumor pathogenesis. The purpose of this study was to evaluate the presence of the receptor c-KIT in OCVH. Our retrospective study examined 16 orbital cavernous venous hemangiomas from 16 cases operated on between 2006-2016 at Emek Medical Center. The mean tumor size was 18.4 mm. Symptoms appeared between 6 months and 22 years before operation. All specimens were analyzed for the c-KIT receptor through immunohistochemistry. The c-KIT was expressed by the endothelium in all 16 preparates. Staining was strong in two cases, moderate in six, and weak in eight cases, with no statistically significant correlation between staining and tumor size (p = 0.69) or the symptom duration (p = 0.15). We conclude that c-KIT may play an important role in the pathogenesis of OCVH. This pilot study is significant in that tumor-targeted therapy such as Imatinib Mesylate and Sunitinib may have a role in treating surgically complicated cases located in the orbital apex. A large multicenter collaborative study is necessary to examine the role of c-KIT in OCVH.


Assuntos
Regulação Neoplásica da Expressão Gênica , Hemangioma Cavernoso/metabolismo , Neoplasias Orbitárias/metabolismo , Proteínas Proto-Oncogênicas c-kit/biossíntese , Adolescente , Adulto , Idoso , Criança , Feminino , Hemangioma Cavernoso/genética , Hemangioma Cavernoso/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Orbitárias/genética , Neoplasias Orbitárias/patologia , Proteínas Proto-Oncogênicas c-kit/genética , Adulto Jovem
16.
Arq Bras Oftalmol ; 85(2): 182-185, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34431903

RESUMO

Neurological manifestations of novel coronavirus disease 3019 (COVID-19) remain unclear. We report the case of a 44-year-old febrile man who presented with double vision and headache 2 d after initial symptoms of fatigue, generalized muscle weakness, and loss of appetite. He was subsequently diagnosed with COVID-19 and transient abducens nerve paresis. He did not present with any respiratory symptoms or additional specific neurological findings. We recommend that with the rising number of cases across the world, physicians develop a greater index of suspicion for COVID-19 in patients with cranial neuropathies, even in those with mild disease without typical respiratory symptoms.


Assuntos
Doenças do Nervo Abducente , COVID-19 , Nervo Abducente , Doenças do Nervo Abducente/diagnóstico , Doenças do Nervo Abducente/etiologia , Adulto , COVID-19/complicações , Diplopia/complicações , Diplopia/etiologia , Humanos , Masculino , Paresia/complicações
17.
Sci Rep ; 11(1): 11016, 2021 05 26.
Artigo em Inglês | MEDLINE | ID: mdl-34040074

RESUMO

The orbital apex is an undefined but well understood concept of Orbital Surgeons. We sought to determine the surgical apex area specifically where the volume ratio decreases significantly impacting on the optic nerve. A retrospective analysis using PACS program processing, measured the right retrobulbar space volume changes in 100 randomly selected cases without orbital pathology where CT was performed for non-ophthalmic indications. Volume of the retrobulbar space was measured between two recognizable landmarks. The first landmark being the point of exit of the optic nerve from the eye and the second landmark the optic nerve's point of exit from the orbit. The measured length between these two points was divided into five equal segments, V1-V5. The volumes of all 5 segments were compared and the most significant area of volume depletion was established. The mean numeric value of measured orbital volumes was compared. A ratio difference of V1/V2 was less than 2, V2/V3 was 2.32 (± 0.27), V3/4 was 3.24 (± 0.39), and V4/V5 was 5.67 (± 1.66). The most remarkable difference in ratio was between V4 and V5 (mean 5.67 ± 1.66 with p < .0001). The V3 segment (the posterior 3/5 of the retrobulbar space volume) is the location where decrease in orbital volume impacts, and measured ratios are statistically significant. We defined the surgical apex as the posterior 3/5 of the retro-bulbar orbital space. It is consequently the area of higher risk for optic nerve compression. This definition could be routinely utilized by ophthalmologists and neuroradiologists when evaluating masses affecting the orbit.


Assuntos
Doenças do Nervo Óptico , Órbita , Tomografia Computadorizada por Raios X , Humanos , Masculino , Estudos Retrospectivos
18.
Am J Ophthalmol ; 227: 139-142, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33737033

RESUMO

PURPOSE: To assess the prevalence of ophthalmic findings in patients with Darier disease, an autosomal dominant genetic skin disorder, in an effort to evaluate the need for eye examinations in the management of the disease. DESIGN: Prospective observational case series. METHODS: Thirty-six individuals with Darier disease were evaluated by both ocular assessment questionnaire and a comprehensive ophthalmic examination (visual acuity, refraction, external examination, and slit-lamp examination) with emphasis on the eyelids, conjunctiva, and cornea. In addition, questionnaire-based medical interview and skin examination were conducted. RESULTS: According to the medical questionnaire, 39% of patients reported eye problems, 36% dry eye, and 42% eye fatigue after prolonged reading. Ocular examination revealed Darier disease lesions on the eyelids in 55% of the patients, blepharitis in 44%, conjunctival hyperemia in 28%, and short tear film break-up time in 83%. There was no significant relationship between any of these ophthalmic findings and systemic retinoid therapy, sex, or age. CONCLUSIONS: The high prevalence of blepharitis and dry eye highlights the importance of ophthalmologic evaluation of patients with Darier disease.


Assuntos
Doenças da Túnica Conjuntiva/epidemiologia , Doenças da Córnea/epidemiologia , Doença de Darier/epidemiologia , Síndromes do Olho Seco/epidemiologia , Doenças Palpebrais/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Doenças da Túnica Conjuntiva/diagnóstico , Doenças da Córnea/diagnóstico , Doença de Darier/diagnóstico , Síndromes do Olho Seco/diagnóstico , Doenças Palpebrais/diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Prospectivos , Refração Ocular/fisiologia , Microscopia com Lâmpada de Fenda , Inquéritos e Questionários , Acuidade Visual/fisiologia
19.
Eur J Ophthalmol ; 19(5): 861-5, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19787610

RESUMO

PURPOSE: To carry out a pilot study comparing the size of various types of metallic intraocular foreign bodies as imaged on computed tomographic (CT) scan to their actual size, and to determine the features of different types of metals on CT scan. METHODS: Metallic foreign bodies of predetermined standardized sizes were prepared from iron, silver, copper, aluminium, and lead. The metallic pieces/shards were each inserted into the vitreous of a cow's eye and helical CT scan (MX twin, Picker) was performed to image the intraocular foreign bodies, using soft tissue and bone window settings. Slice section thickness was 1.3 mm, with intervals of 0.6 mm. Milliampere per second was 265 and pitch 0.7. RESULTS: The size of all types of metals as measured on CT was larger than the actual size. Iron was enlarged by a factor of 2.29, silver 1.77, copper 1.26, and aluminum 1.17. All metals had features including central core, ring density, and artifacts which varied for each type of metal, giving each one a characteristic appearance CONCLUSIONS: Helical CT scan could be useful in estimating the type and size of an intraocular metal foreign body made from iron, silver, copper, aluminium, or lead.


Assuntos
Alumínio/química , Corpos Estranhos no Olho/diagnóstico por imagem , Ferimentos Oculares Penetrantes/diagnóstico por imagem , Metais Pesados/química , Tomografia Computadorizada Espiral/métodos , Animais , Bovinos , Projetos Piloto
20.
J Ophthalmic Vis Res ; 13(2): 175-182, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29719647

RESUMO

Infections of the orbit and periorbita are relatively frequent, and can cause significant local and systemic morbidity. Loss of vision occurs in more than 10% of patients, and systemic sequelae can include meningitis, intracranial abscess, and death. Numerous organisms infect the orbit, but the most common are bacteria. There are many methods through which orbital infections occur, with infection from the neighboring ethmoid sinuses the most likely cause for all age groups. Prompt management is essential in suspected orbital cellulitis, and involves urgent intravenous antibiotics, rehydration, and treatment of any co-existent underlying systemic disease, e.g., diabetes, renal failure. This review summarizes the common infectious processes of the orbit in both pediatric and adult groups. We review pathophysiology, symptoms, signs, and treatment for infectious orbital processes.

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