RESUMO
A 65-year-old man with diabetes and a history of fever of unknown origin 2 weeks earlier complained of sudden decreased vision in the left eye. The patient was diagnosed with bilateral West Nile virus (WNV) chorioretinitis associated with occlusive retinal vasculitis in the left eye. Swept-source optical coherence tomography angiography (SS-OCTA) of the left eye showed extensive, well-delineated, hypointense non-perfusion areas and perifoveal capillary arcade disruption in the superficial capillary plexus, as well as larger non-perfusion areas, capillary rarefaction, and diffuse capillary network attenuation and disorganization in the deep capillary plexus. OCTA may be a valuable tool for noninvasively assessing occlusive retinal vasculitis associated with WNV infection. It allows an accurate detection and precise delineation of areas of retinal capillary nonperfusion in both the superficial and deep capillary plexuses. [Ophthalmic Surg Lasers Imaging Retina. 2017;48:672-675.].
Assuntos
Coriorretinite/diagnóstico , Corioide/patologia , Infecções Oculares Virais/diagnóstico , Angiofluoresceinografia/métodos , Retina/patologia , Tomografia de Coerência Óptica/métodos , Febre do Nilo Ocidental/diagnóstico , Idoso , Anticorpos Antivirais/imunologia , Coriorretinite/virologia , Diagnóstico Diferencial , Infecções Oculares Virais/virologia , Fundo de Olho , Humanos , Masculino , Febre do Nilo Ocidental/virologia , Vírus do Nilo Ocidental/imunologiaRESUMO
BACKGROUND/AIMS: Allgrove syndrome is a rare autosomal recessive disorder characterized by alacrima, achalasia, and adrenal insufficiency. It is caused by mutations of the AAAS gene located on chromosome 12q13 encoding the WD-repeat protein ALADIN. The c.1331+1G>A mutation is one of the most common mutations described in the literature and was identified in Tunisian and Algerian populations. Herein, we describe the clinical and genetic profile of two families from Libya in North Africa associated with Allgrove syndrome. METHODS: Two unrelated families clinically diagnosed with Allgrove syndrome were evaluated for sequence variations in the AAAS gene. Blood samples were collected, and isolated DNA derived from the subjects was amplified. The entire sequence of the AAAS gene was analyzed by PCR-RFLP and direct sequencing. RESULTS: Molecular analysis revealed the major homozygous mutation (c.1331+1G>A) in all patients. The presence of a major mutation in Tunisia, Algeria and, as discovered in this report, in Libya in patients with Allgrove syndrome suggests the existence of an ancestral mutation and a founder effect in North Africa. CONCLUSIONS: The findings allow for a fast genetic counseling in North African families with Allgrove syndrome. To the best of our knowledge, this is the first report of Allgrove syndrome in Libya.
Assuntos
Insuficiência Adrenal/epidemiologia , Insuficiência Adrenal/genética , Acalasia Esofágica/epidemiologia , Acalasia Esofágica/genética , Efeito Fundador , Homozigoto , Proteínas do Tecido Nervoso/genética , Complexo de Proteínas Formadoras de Poros Nucleares/genética , Mutação Puntual , Feminino , Humanos , Líbia/epidemiologia , MasculinoRESUMO
The purpose of this study was to analyze the spectrum of presumed tubercular uveitis in Tunisia, North Africa. We retrospectively reviewed the clinical records of 38 patients (65 eyes) diagnosed with presumed tubercular uveitis at two referral centers in Tunisia, between January 2009 and December 2011. Mean age at presentation was 42.7 years. Twenty-four patients were women (63.2%) and 14 (36.8%) were men. Twenty-three eyes (35.4%) had posterior uveitis, 21 eyes (32.3%) had intermediate uveitis, 13 eyes (20%) had panuveitis, and 8 eyes (12.3%) had anterior uveitis. Ocular findings included vitritis in 67.7% of eyes, posterior synechiae in 47.7%, multifocal non-serpiginoid choroiditis in 23.1%, multifocal serpiginoid choroiditis in 21.5%, periphlebitis in 21.5%, and mutton-fat keratic precipitates in 20%. Anti-tubercular treatment was prescribed in 33 patients (86.8%) and was associated with systemic corticosteroids in 20 patients (52.6%) and periocular injections of corticosteroids in four patients (10.5%). After a mean follow-up of 14.2 months (range, 10-58), inflammation was controlled, with a significant improvement in visual acuity (VA) (p = 0.028). However, recurrences developed in two patients (5.3%). Final VA was better than 20/40 in 27 eyes (41.5%) and less than 20/200 in five eyes (7.7%). In Tunisia, all anatomic types are possible in tuberculosis-associated uveitis, but posterior and intermediate uveitis are more frequent. Vitritis, posterior synechiae, multifocal serpiginoid or non-serpiginoid choroiditis, and periphlebitis are the most common manifestations.
Assuntos
Tuberculose Ocular/epidemiologia , Uveíte/epidemiologia , Adulto , Idoso , Análise de Variância , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Tuberculose Ocular/complicações , Tuberculose Ocular/tratamento farmacológico , Tunísia/epidemiologia , Uveíte/etiologia , Uveíte/patologia , Adulto JovemRESUMO
UNLABELLED: Abstract Purpose: To characterize and analyze ocular involvement associated with visual loss in a cohort of patients with rickettsial disease. METHODS: Retrospective study of 16 eyes of 14 patients. RESULTS: Mean initial visual acuity (VA) was 20/63 (range, 20/800-20/25). White retinal lesions infiltrating inner retina was the most common finding occurring in 14 eyes (87.5%). It was associated with a serous retinal detachment (SRD), accurately detectable by optical coherence tomography, in 11 eyes (78.6%). Other findings included optic neuropathy in 7 eyes (43.75%), cystoid macular edema in 1 eye (6.25%), branch retinal artery occlusion in 1 eye (6.25%), and choroidal neovascularization in 1 eye (6.25%). Thirteen patients were treated with a 2-week course of oral doxycycline 200 mg/day. Mean final VA was 20/40. CONCLUSIONS: Inner retinitis, associated with mild vitritis and SRD, and optic neuropathy are the most common vision-threatening ocular manifestations of rickettsial disease.
Assuntos
Cegueira/etiologia , Infecções Oculares Bacterianas/complicações , Infecções por Rickettsia/complicações , Rickettsia/imunologia , Acuidade Visual , Adolescente , Adulto , Anticorpos Antibacterianos/análise , Cegueira/diagnóstico , Cegueira/fisiopatologia , Diagnóstico Diferencial , Infecções Oculares Bacterianas/diagnóstico , Infecções Oculares Bacterianas/microbiologia , Feminino , Angiofluoresceinografia , Seguimentos , Fundo de Olho , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Infecções por Rickettsia/diagnóstico , Infecções por Rickettsia/microbiologia , Tomografia de Coerência Óptica , Adulto JovemRESUMO
IMPORTANCE: There is wide variation in the management of thyroid nodules identified on ultrasound imaging. OBJECTIVE: To quantify the risk of thyroid cancer associated with thyroid nodules based on ultrasound imaging characteristics. METHODS: Retrospective case-control study of patients who underwent thyroid ultrasound imaging from January 1, 2000, through March 30, 2005. Thyroid cancers were identified through linkage with the California Cancer Registry. RESULTS: A total of 8806 patients underwent 11,618 thyroid ultrasound examinations during the study period, including 105 subsequently diagnosed as having thyroid cancer. Thyroid nodules were common in patients diagnosed as having cancer (96.9%) and patients not diagnosed as having thyroid cancer (56.4%). Three ultrasound nodule characteristics--microcalcifications (odds ratio [OR], 8.1; 95% CI, 3.8-17.3), size greater than 2 cm (OR, 3.6; 95% CI, 1.7-7.6), and an entirely solid composition (OR, 4.0; 95% CI, 1.7-9.2)--were the only findings associated with the risk of thyroid cancer. If 1 characteristic is used as an indication for biopsy, most cases of thyroid cancer would be detected (sensitivity, 0.88; 95% CI, 0.80-0.94), with a high false-positive rate (0.44; 95% CI, 0.43-0.45) and a low positive likelihood ratio (2.0; 95% CI, 1.8-2.2), and 56 biopsies will be performed per cancer diagnosed. If 2 characteristics were required for biopsy, the sensitivity and false-positive rates would be lower (sensitivity, 0.52; 95% CI, 0.42-0.62; false-positive rate, 0.07; 95% CI, 0.07-0.08), the positive likelihood ratio would be higher (7.1; 95% CI, 6.2-8.2), and only 16 biopsies will be performed per cancer diagnosed. Compared with performing biopsy of all thyroid nodules larger than 5 mm, adoption of this more stringent rule requiring 2 abnormal nodule characteristics to prompt biopsy would reduce unnecessary biopsies by 90% while maintaining a low risk of cancer (5 per 1000 patients for whom biopsy is deferred). CONCLUSIONS AND RELEVANCE: Thyroid ultrasound imaging could be used to identify patients who have a low risk of cancer for whom biopsy could be deferred. On the basis of these results, these findings should be validated in a large prospective cohort.
Assuntos
Glândula Tireoide/diagnóstico por imagem , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Nódulo da Glândula Tireoide/diagnóstico por imagem , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Sistema de Registros , Estudos Retrospectivos , Risco , Sensibilidade e Especificidade , Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/patologia , Nódulo da Glândula Tireoide/patologia , UltrassonografiaRESUMO
INTRODUCTION: Lipoid proteinosis (LP), also known as hyalinosis (or lipoidosis) cutis et mucosae or Urbach-Wiethe disease, is a rare autosomal recessive disorder. It is associated with deposits of protein-lipid complexes in various tissues including the skin and mucous membranes. Ophthalmologic manifestations are frequent and can affect visual prognosis. CASE: This 28-year-old patient presented vesiculobullous lesions of the face that developed into varioloid scars associated with hoarseness. Ophthalmologic examination revealed unilateral lesions including hyaline deposits on the palpebral margins, iris, and trabecular zone, complicated by uveitis, cataract, and glaucoma, which caused the functional loss of the left eye. Histological examination of a cutaneous biopsy confirmed the diagnosis. DISCUSSION: Involvement of the eyelids is characteristic, and moniliform blepharosis is pathognomonic and frequent. This case featured a rare intraocular form (uveitis). Deposits may be found on the conjunctiva, cornea, trabecula and Bruch membrane. Conjunctival or cutaneous biopsy confirms the diagnosis. Available treatment is quite limited.
Assuntos
Oftalmopatias/etiologia , Proteinose Lipoide de Urbach e Wiethe/diagnóstico , Adulto , Feminino , Rouquidão/etiologia , Humanos , Proteinose Lipoide de Urbach e Wiethe/complicações , Dermatopatias Vesiculobolhosas/etiologiaRESUMO
Xéroderma pigmentosum (XP) is a rare genetic disease characterised by defective repair of DNA damage. We report a retrospective study of the ophtalmologic manifestations of 16 patients with xéroderma pigmentosum, the ophtalmologic manifestations were present in 62% of cases. The age of patients was 7 to 22 years. Photophobia were seen in all patients. Multiple tumors were seen with 5 squamous cell carcinoma. Tumor size was 1 to 6 cm. Ocular involvement occurs in up to 80% of cases of XP. Infection, néoplasia, conjonctiva are the most commun finding. Patients with XP can acquire squamous cell carcinoma at an early age.
Assuntos
Oftalmopatias/genética , Xeroderma Pigmentoso/complicações , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Estudos RetrospectivosRESUMO
BACKGROUND: Strabismus surgery is underwent with general anaesthesia since it's a paediatric surgery in the majority of cases. The aim of our study is to analyse the safety and tolerance of peribulbar anaesthesia for strabismus surgery. PATIENTS AND METHODS: sixty two patients underwent strabismus surgery with a peribulbar anaesthesia. All patients had premedication the evening before and two hours bef6re the surgery. All patients were examined to evaluate the efficacy and the safety of such anaesthesia. RESULTS: The main age was 31,5 years. Forty patients were female and twenty two were male. None had report pain. Three patients report just incomfort during surgery. Orthoptic results were acceptable. CONCLUSION: Peribulbar anaesthesia has shown to be an effective alternative for general anaesthesia for strabismus surgery in an attempt to reduce the morbidity and mortality. It take importance particularly in patients of high-risk characteristics and in monocular surgery.
Assuntos
Anestesia Local/métodos , Estrabismo/cirurgia , Adolescente , Adulto , Idoso , Anestésicos Combinados/administração & dosagem , Anestésicos Locais/administração & dosagem , Bupivacaína/administração & dosagem , Feminino , Seguimentos , Humanos , Injeções , Lidocaína/administração & dosagem , Masculino , Pessoa de Meia-Idade , Fatores de Tempo , Resultado do TratamentoRESUMO
BACKGROUND: The non-Hodgkin's lymphomas are a group of neoplasms characterized by proliferation of malignant lymphocytes. There is a wide variety of presenting signs and symptoms depending on the site of involvement and aggressiveness of the disease. Many organs in the body may be affected. Ocular and orbital localisations are rare, usually discovered in the older people and are exceptional in childhood. CASE REPORT: A 9-year old girl consulted for exophthalmia of the left eye without neither inflammation nor visual function alteration. The magnetic resonance imaging revealed a voluminous orbital tumour, probably a rhabdomyosarcoma. Two biopsies were done on the tumour without conclusion. The biopsy done on a frontal metastasis affirmed the diagnosis of non-Hodgkin's lymphoma. Chemotherapy led to tumour regression and involution of the exophthalmia. The aim of this study is to evaluate the clinical features and treatment of child orbital lymphoma.
Assuntos
Linfoma de Células B , Neoplasias Orbitárias , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Biópsia , Criança , Exoftalmia/etiologia , Feminino , Seguimentos , Humanos , Linfoma de Células B/diagnóstico , Linfoma de Células B/tratamento farmacológico , Linfoma de Células B/patologia , Imageamento por Ressonância Magnética , Órbita/patologia , Neoplasias Orbitárias/diagnóstico , Neoplasias Orbitárias/tratamento farmacológico , Neoplasias Orbitárias/patologia , Fatores de TempoRESUMO
This article reports the results of a mammography screening program of breast cancer, realized in the department of Radiology, Charles Nicolle hospital. A free screening mammography with two incidences was offered to women aged from 40 to 70 years old. 2200 mammographies were realized from May 1995 till July 1997. Women having a positive test benefited of a diagnostic explorations in the same unity. The positive test rate was 24%. Predictive positive value was 31%. This program allowed to detect 10 subclinical cancers, corresponding to a rate of detection of 4.5 cancers for 1000 women. This program is a first experience which demonstrated the feasibility of the mammography screening to wide scale and allowed the medical and paramedical team to acquire an experience.