RESUMO
The authors present some pathological findings in the skin and hair of the child affected by rather rare Bloch-Sulzberg syndrome manifested in incontinentia pigmenti, followed for 10 years. In this work are presented also some recent data about pathogenesis of the disease with X-chromosome dominant heredity, primary of neuroectodermal origincaused by mutation of nuclear factor kappa-B of essential modulator (NEMO) of the gene (chromosomal locus Xq28).
Assuntos
Incontinência Pigmentar/patologia , Criança , Feminino , Humanos , Pele/patologiaRESUMO
The authors refer to their experience with implantation of 23 IOL following the extraction of cataract, using the Baikoff's method (envelope technique). The ratio men:women in the treated group of patient was 13:10. In 19 patients the resultant vision acuity achieved the value of 6/18, or even better. Postoperative complications were represented by a temporary increase of intraocular pressure (occurred in 3 patients), fibrin reaction (occurred in 5 patients), deformation of the pupil (occurred in 3 patients) and vitreous body hemorrhage (occurred in 1 patient). The observation period lasted 3-6 months. The reason of deteriorated vision acuity which occurred in 4 cases was the presence of glaucoma chronicum simplex and degeneratio maculae luteae. (Tab. 3, Ref. 5.)
Assuntos
Lentes Intraoculares , Extração de Catarata , Feminino , Humanos , Masculino , Complicações Pós-Operatórias , Acuidade VisualRESUMO
The authors present a case report of 26 years old man with bilateral optic nerve neuropathy. Detection of heteroplasmic mutation of mitochondrial DNA at G3460A site confirmed the suspicion on Lebers hereditary optic nerve neuropathy (LHON). Genetic and environmental factors of the disease and various accompanying neurologic and other symptoms, which can together with the optic nerve defect participate in the development of of the LOHN clinical pattern are discussed. (Ref. 12.)
Assuntos
Atrofias Ópticas Hereditárias , Adulto , Humanos , Masculino , Atrofias Ópticas Hereditárias/diagnóstico , Atrofias Ópticas Hereditárias/genéticaRESUMO
The aim of the present study was to test the hypothesis that the age-associated decrease of tendon stiffness would necessitate greater muscle fascicle strains to produce similar levels of force during isometric contraction. Greater fascicle strains could force sarcomeres to operate in less advantageous regions of their force-length and force-velocity relationships, thus impairing the capacity to generate strong and explosive contractions. To test this hypothesis, sagittal-plane dynamic velocity-encoded phase-contrast magnetic resonance images of the gastrocnemius medialis (GM) muscle and Achilles tendon (AT) were acquired in six young (YW; 26.1 ± 2.3 yr) and six senior (SW; 76.7 ± 8.3 yr) women during submaximal isometric contraction (35% maximum voluntary isometric contraction) of the plantar flexor muscles. Multiple GM fascicle lengths were continuously determined by automatically tracking regions of interest coinciding with the end points of muscle fascicles evenly distributed along the muscle's proximo-distal length. AT stiffness and Young's modulus were measured as the slopes of the tendon's force-elongation and stress-strain curves, respectively. Despite significantly lower AT stiffness at older age (YW: 120.2 ± 52.3 N/mm vs. SW: 53.9 ± 44.4 N/mm, P = 0.040), contraction-induced changes in GM fascicle lengths were similar in both age groups at equal levels of absolute muscular force (4-5% fascicle shortening in both groups), and even significantly larger in YW (YW: 11-12% vs. SW: 6-8% fascicle shortening) at equal percentage of maximum voluntary contraction. These results suggest that factors other than AT stiffness, such as age-associated changes in muscle composition or fascicle slack, might serve as compensatory adaptations, limiting the degree of fascicle strains upon contraction.
Assuntos
Tendão do Calcâneo/fisiologia , Envelhecimento/fisiologia , Músculo Esquelético/fisiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Fenômenos Biomecânicos , Complacência (Medida de Distensibilidade)/fisiologia , Módulo de Elasticidade , Feminino , Humanos , Contração Isométrica/fisiologia , Imageamento por Ressonância Magnética , Rotação , Estresse Mecânico , Adulto JovemRESUMO
The principal expressions used within automated perimetry investigation, as well as differential light sensitivity, light sensitivity threshold, investigation strategy and raster are described. The work contains depictions of result investigative possibilities as follows: graphical, numeric, cumulative defect curve which enables automated perimetry only.
Assuntos
Testes de Campo Visual , Humanos , Testes de Campo Visual/instrumentação , Testes de Campo Visual/métodosRESUMO
The aim of this prospective study has been to evaluate effectivity of laser peripheral iridoplasty (ALPI) as a first choice therapy for intraocular pressure (IOP) reduction in acute primary angle-closure glaucoma (PACG). The study included 12 patients with the first attack of acute glaucoma in whom IOP in spite of continuing medical therapy for 12 hours persisted at the level of 5.32 kPa (40.0 mmHg) and higher. We used Argon laser manufactured by HGM E-005. Laser parameters were: spot size 300-500 um, time 0.2-0.5 s, intensity 300-500 mW. Laser burns were placed to the whole circumference of the iridocorneal angle numbering 50-60 with the use of Goldmann contact lens. Applanation tonometry was used to measure IOP shortly before the laser therapy and 1 and 2 hours after ALPI. The mean IOP prior to treatment was 6.00 +/- 1.46 kPa (51.7 +/- 11.04 mmHg). The mean IOP 1 hour after ALPI was 2.77 +/- 0.44 kPa (20.83 +/- 3.31 mmHg) and after 2 hours 2.39 +/- 0.26 kPa (18.0 +/- 2.0 mmHg) which represents 45.8% reduction in IOP. Two hours after treatment all patients had transparent corneas. The results of this study confirm that ALPI effectively reduces IOP and enhances transparency of the cornea in acute PACG for the definitive treatment by laser iridotomy.
Assuntos
Glaucoma de Ângulo Fechado/cirurgia , Iris/cirurgia , Terapia a Laser , Doença Aguda , Idoso , Feminino , Glaucoma de Ângulo Fechado/fisiopatologia , Humanos , Pressão Intraocular , Terapia a Laser/efeitos adversos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Acuidade VisualRESUMO
Non-selected group of 53 patients with primary open-angle glaucoma, divided into the 4 groups according to the degree of optic disc atrophy with c/d ratio: I. 0.3-0.45, II. 0.46-0.6, III. 0.61-0.8, and IV. > than 0.81 statistically compared with perimetric results divided also into the 4 groups of relevance: I. negative or relative scotoma, II. spotted or arcuate and also absolute defects without the connection with blind spot, III. arcuate also absolute defects connected with blind spot, IV. larger than upward defects. Mutual relation of these groups evaluated by Friedman's correlative coefficient of nonparametric data (= 0,3317) and graphically by Chi quadrat test. Discussed problem of early changes of visual field and c/d ratio at glaucoma and the use of correlation between the functional changes and structural characteristics of optic disc.
Assuntos
Glaucoma de Ângulo Aberto/fisiopatologia , Testes de Campo Visual , Campos Visuais , Glaucoma de Ângulo Aberto/patologia , Humanos , Disco Óptico/patologiaRESUMO
A blood flow rate in the arteria and vena centralis retinae was measured by Doppler-ultrasonographic method in a group of 36 patients of an average age of 59.35 years. The patients did not suffer any cardiovascular disease, glaucoma, diabetes mellitus-factors which influence the blood viscosity. In the arteria centralis retinae, there was measured a maximum systolic rate of 10.25 +/- 2.66 cm/s and a end diastolic rate of 5.24 +/- 1.27 cm/s. In the vena centralis retinae, there was measured an average maximum flow rate of 5.89 +/- 1.72 cm/s and end diastolic rate of 4.1 +/- 1.28 cm/s (minimum 2.12; maximum 6.2 cm/s). A procedure of examination and terms of its optimalisation are described there.
Assuntos
Artéria Retiniana/fisiologia , Veia Retiniana/fisiologia , Ultrassonografia Doppler , Velocidade do Fluxo Sanguíneo , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valores de ReferênciaRESUMO
Percentage relation of the neuroretinal rim area to the total optic disc area was examined planimetrically in relation to the age of 116 probands having no optic disease and divided into the age decades from 3 to 7. In 3rd decade percentage of the neuroretinal rim area was on average 90.26% (min. 81.2; max. 93.6 standard deviation 3,225). In 4th decade average area was 89.92% (min. 83.7; max. 96.5 standard deviation 3,494). In 5th decade average area of the neuroretinal rim area was 88.583% (min. 78.6; max. 95.5 standard deviation 4,496). In 7th decade average are was 82.448% (min. 73.8; max. 93.5 standard deviation 4,758). Significance of the value differences found by means of t-Student non-pair test: significant differences were found between the parametres in 3rd and 6th decades (p is less than 0.01); between 3rd and 7th decades (p is less than 0.001); between 4th and 6th decades (p is less than 0.01); between 4th and 7th decades (p is less than 0.001); between 5th and 7th age decades (p is less than 0.001) and between 6th and 7th age decades (p is less than 0.01). No significant differences were found between the parametres of the age decades 3 and 5, 3 and 4, 4 and 5, 6 and 7.
Assuntos
Envelhecimento/patologia , Disco Óptico/anatomia & histologia , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Angiofluoresceinografia , Humanos , Pessoa de Meia-IdadeRESUMO
The authors describe a female patient with bilateral colobomatous malformations of the uvea in conjunction with anorectal atresia and other symptoms suggesting Schmid-Fraccaro's syndrome called also cat eye syndrome. Using fluorescent hybridization in situ, the authors identified the supernumerous bisatellite marker chromosome derived from chromosome 22 which made it possible to confirm the suspected diagnosis.