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1.
Exp Ther Med ; 25(1): 58, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36588817

RESUMO

The present article describes a case of a 24-year-old patient who suffered from acute pancreatitis. The patient simultaneously developed visual acuity loss and changes in the visual field. When examined, the finding was physiological, including the fundoscopy. Neither fluorescein angiography or optical coherence tomography demonstrated any retinal abnormalities; electroretinography was physiological as well. The visual evoked potentials (VEP) showed abnormalities in amplitudes. Patient's visual field was reduced to 40˚. The follow-up examination 13 months after the first symptoms proved a progression of changes in the visual field and prolonged latency of P100 peak in VEP. The retinal nerve fibre layer stayed unchanged, but the vessel density on the optic nerve head decreased. Magnetic resonance brain imaging showed non-specific subcortical and paraventricular focuses in the white matter of both hemispheres. There were no other abnormalities detected by magnetic resonance imaging. Neurological examination was normal. In conclusion, the present study verified this decrease of visual functions as a lesion in the visual pathway using VEP, which was also confirmed by magnetic resonance brain imaging.

2.
Genes (Basel) ; 12(11)2021 11 18.
Artigo em Inglês | MEDLINE | ID: mdl-34828422

RESUMO

The aim of this study was to identify RS1 pathogenic variants in Czech patients with X-linked retinoschisis (XLRS) and to describe the associated phenotypes, including natural history, in some cases. Twenty-one affected males from 17 families were included. The coding region of RS1 was directly sequenced and segregation of the identified mutations was performed in available family members. In total, 12 disease-causing variants within RS1 were identified; of these c.20del, c.275G>A, c.[375_379del; 386A>T], c.539C>A and c.575_576insT were novel, all predicted to be null alleles. The c.539C>A mutation occurred de novo. Three patients (aged 8, 11 and 19 years) were misdiagnosed as having intermediate uveitis and treated with systemic steroids. Repeat spectral domain optical coherence tomography examinations in four eyes documented the transition from cystoid macular lesions to macular atrophy in the fourth decade of life. Four individuals were treated with topical dorzolamide and in two of them, complete resolution of the cystic macular lesions bilaterally was achieved, while one patient was noncompliant. Rebound phenomenon after discontinuation of dorzolamide for 7 days was documented in one case. Misdiagnosis of XLRS for uveitis is not uncommon; therefore, identification of disease-causing variants is of considerable benefit to the affected individuals.


Assuntos
Retinosquise/genética , Adolescente , Anti-Hipertensivos/administração & dosagem , Anti-Hipertensivos/uso terapêutico , Criança , Pré-Escolar , República Tcheca , Proteínas do Olho/genética , Frequência do Gene , Humanos , Lactente , Mutação , Linhagem , Retinosquise/tratamento farmacológico , Retinosquise/patologia , Sulfonamidas/administração & dosagem , Sulfonamidas/uso terapêutico , Tiofenos/administração & dosagem , Tiofenos/uso terapêutico , Tomografia de Coerência Óptica
3.
J Clin Med ; 10(16)2021 Aug 12.
Artigo em Inglês | MEDLINE | ID: mdl-34441839

RESUMO

Fabry disease (FD) is a rare X-linked disorder of glycosphingolipid metabolism caused by pathogenic variants within the alpha-galactosidase A (GLA) gene, often leading to neurological manifestations including stroke. Multiple screening programs seeking GLA variants among stroke survivors lacked detailed phenotype description, making the interpretation of the detected variant's pathogenicity difficult. Here, we describe detailed clinical characteristics of GLA variant carriers identified by a nationwide stroke screening program in the Czech Republic. A total of 23 individuals with 8 different GLA variants were included in the study. A comprehensive diagnostic workup was performed by a team of FD specialists. The investigation led to the suggestion of phenotype reclassification for the G325S mutation from late-onset to classical. A novel variant R30K was found and was classified as a variant of unknown significance (VUS). The typical manifestation in our FD patients was a stroke occurring in the posterior circulation with an accompanying pathological finding in the cerebrospinal fluid. Moreover, we confirmed that cornea verticillata is typically associated with classical variants. Our findings underline the importance of detailed phenotype description and data sharing in the correct identification of pathogenicity of gene variants detected by high-risk-population screening programs.

4.
Cas Lek Cesk ; 156(3): 147-149, 2017.
Artigo em Tcheco | MEDLINE | ID: mdl-28722460

RESUMO

Hair plays an important role in human life. Quantitative or qualitative changes of hair are therefore perceived unfavorably. The psychological consequences of hair loss are described in both androgenic alopecia and alopecia areata. Alopecia areata should be distinguished from other diagnostic units such as trichotillomania. The issue of hair disease requires a multidisciplinary collaboration, in which the dermatologist has a key role to play.


Assuntos
Alopecia em Áreas , Tricotilomania , Alopecia em Áreas/diagnóstico , Alopecia em Áreas/etiologia , Cabelo , Humanos , Tricotilomania/diagnóstico
5.
Ophthalmologica ; 230(1): 34-42, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23751929

RESUMO

PURPOSE: Evaluation of the cost and effectiveness of therapy for patients with the wet form of age-related macular degeneration (AMD) in routine clinical practice. METHODS: A retrospective multicentre evaluation of changes in the best-corrected visual acuity in applied kinds of therapy and a comparison with the cost of individual therapeutic procedures. RESULTS: An overall total of 788 eyes of 763 patients with an average age of 73.2 ± 8.6 years was evaluated for a 1-year minimum period. In the ranibizumab and pegaptanib therapy groups, a reduction of 1.3 letters (p = 0.303) and 1.4 letters (p = 0.197) was found, respectively. In the group of photodynamic therapy (PDT) with verteporfin, a reduction of 5.2 letters was achieved (p < 0.001). Under the conditions of routine practice in the Czech Republic, the annual cost is highest (EUR 5,467.63/patient) in patients with pegaptanib therapy. The annual cost in patients with ranibizumab therapy is lower by EUR 1,220.16. The cost is nearly half (EUR 2,783.65) in the group treated with PDT with verteporfin. CONCLUSION: An initiation of AMD therapy by ranibizumab is cost-effective as compared to pegaptanib. Both ranibizumab and pegaptanib are significantly more efficient as compared to PDT with verteporfin. Therapy with ranibizumab and pegaptanib, as compared to PDT with verteporfin, prevents the loss of 1 line of vision on the ETDRS chart for EUR 1,225.98 and 2,286.18, respectively.


Assuntos
Anticorpos Monoclonais Humanizados/uso terapêutico , Aptâmeros de Nucleotídeos/uso terapêutico , Custos de Cuidados de Saúde/estatística & dados numéricos , Porfirinas/uso terapêutico , Degeneração Macular Exsudativa/tratamento farmacológico , Idoso , Idoso de 80 Anos ou mais , Inibidores da Angiogênese/economia , Inibidores da Angiogênese/uso terapêutico , Anticorpos Monoclonais Humanizados/economia , Aptâmeros de Nucleotídeos/economia , Análise Custo-Benefício , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Fotoquimioterapia/economia , Fármacos Fotossensibilizantes/economia , Fármacos Fotossensibilizantes/uso terapêutico , Porfirinas/economia , Ranibizumab , Estudos Retrospectivos , Resultado do Tratamento , Verteporfina , Acuidade Visual
6.
Artigo em Inglês | MEDLINE | ID: mdl-23202275

RESUMO

AIMS: To determine the effectiveness of second line treatments in patients with neovascular AMD who did not respond adequately to primary treatment. METHODS: Retrospective, multicentre assessment. The frequency of primary treatment failure and outcomes of subsequent secondary treatment were assessed according to the type of primary treatment, type of CNV and change in BCVA over a 12 month period. RESULTS: At the time of assessment 750 entries (750 treated eyes, 725 treated patients) had follow-up longer than 12 months. A treatment change required 7.7% subjects treated with ranibizumab, 20.5% with pegaptanib and 22% with PDT and verteporfin. Average BCVA of all patients at the beginning of primary treatment was 50.7 ± 3 letters and 43 ± 3.5 letters in 12(th) month (P<0.001). The mean decrease in BCVA was 7.7 ± 0.6 letters during the first 6 months of observation. During the next 6 months, no significant change occurred. The change of primary therapy was required on average after 6.5 ± 2.1 months. CONCLUSION: BCVA loss was the most significantly decelerated in patients who received ranibizumab as a secondary therapy following unsuccessful treatment with pegaptanib sodium.


Assuntos
Anticorpos Monoclonais Humanizados/uso terapêutico , Aptâmeros de Nucleotídeos/uso terapêutico , Degeneração Macular/tratamento farmacológico , Idoso , República Tcheca , Feminino , Humanos , Masculino , Ranibizumab , Sistema de Registros , Estudos Retrospectivos , Falha de Tratamento
8.
Neuro Endocrinol Lett ; 30 Suppl 1: 219-24, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-20027174

RESUMO

OBJECTIVES: The aim of this study, performed in 2008, was to evaluate the consequences of severe occupational intoxication with 2,3,7,8-tetrachloro-dibenzo-p-dioxin (TCDD) that occurred during production of the herbicide trichlorophenoxyacetic acid in the period 1965-1968. DESIGN: Examination of 11 men, mean age 64.4+/-1.5 years, included: internal and neurological examination, eye fundus examination, TCDD in plasma, thyroid-stimulating hormone (TSH), testosterone and serum lipids, ultrasonography of the carotid artery, nerve conduction study (NCS), electroencephalography (EEG), visual evoked potential (VEP), Lanthony test of acquired visual impairment, single photon emission computer tomography (SPECT) of the brain, neuropsychological examination and carbohydrate-deficient transferrin (CDT), a marker of chronic ethanol intake. RESULTS: Mean TCDD level in 2008 was still 274.0+/-181.2 pg/g blood lipids (reference level is 2-3 pg/g). All (100%) patients had residues of chloracne/chloracne consequences, atherosclerotic changes on the eye fundus and plaques in the carotid arteries. Progression of intima-media thickness (IMT) from a mean of 0.84+/-0.14 mm in 2003 to 1.09+/-0.18 mm in 2008 was observed. Ninety-one per cents of patients had impairment in SPECT of the brain; and 55% of patients had hyperfixation of the perfusion indicator as a measure of increased neuronal activity. Additionally, 91 % of patients were treated for hyperlipidaemia, 73 % for hypertension, 55 % for diabetes type 2, 45 % for ischemic heart disease, and 36 % for psychological disorders. The Lanthony test demonstrated acquired dyschromatopsia in 80 % of patients. Mean colour confusion index (CCI) was 1.438, which indicates impairment since 2003, when the index was 1.302. CDT was in the normal range and did not correlate with CCI. Neuropsychological status appeared stabilized in all 8 patients examined, with impairment in one or more parameter (memory, attention, verbal fluency, psychomotor speed, motorics) in comparison to the norm. CONCLUSION: Forty years after intoxication, the blood level of TCDD is still 100 times higher than in the general population. Other PCDD/Fs were not elevated. A high percentage of subjects suffer from neurological and vascular disorders. No association of alcohol consumption with neurological impairment was seen, and the highly significant correlation between CCI and TCDD blood concentration suggests that acquired colour impairment was associated with TCDD but not with alcohol consumption. IMT significantly increased during past 5 years. The patients obviously need complex treatment, including intense hypolipidaemic and antidepressant therapy.


Assuntos
Doença Crônica/epidemiologia , Poluentes Ambientais/toxicidade , Exposição Ocupacional , Dibenzodioxinas Policloradas/toxicidade , Colesterol/sangue , Poluentes Ambientais/sangue , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Dibenzodioxinas Policloradas/sangue , Prevalência , Triglicerídeos/sangue
9.
Rev Environ Health ; 21(2): 119-38, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-16898675

RESUMO

The environmental contaminant 2,3,7,8-tetrachlordibenzo-p-dioxin (TCDD) belongs to the category of highly toxic, persistent organic pollutants that accumulate in animal fat and plant tissues. Today, background TCDD levels in human fat are showing a decreasing trend. The food chain is the main source of exposure in the human population. TCDD regulates the expression of a wide range of drug-metabolizing enzymes and has an impact on a large number of biological systems. The most pronounced effects have occurred in occupational settings following the uncontrolled formation of TCDD after industrial accidents, as well as in rare intentional intoxications. Although the acute effects of TCDD exposure are well described in the literature, the long-term consequences have been underevaluated. The most well-known symptoms of severe acute intoxication are chloracne, porphyria, transient hepatotoxicity, and peripheral and central neurotoxicity. Because of the long-term persistence of TCDD in the human body, atherosclerosis, hypertension, diabetes, vascular ocular changes, and signs of neural system damage, including neuropsychological impairment, can be present several decades after massive exposure. Such chronic effects are nonspecific, multifactorial, and may be causally linked to TCDD only in heavily intoxicated subjects. This opinion is supported by the dose-dependent effect of TCDD found in exposed workers and by experimental animal studies.


Assuntos
Exposição Ambiental/efeitos adversos , Poluentes Ambientais/toxicidade , Dibenzodioxinas Policloradas/toxicidade , Aterosclerose/induzido quimicamente , Diabetes Mellitus/induzido quimicamente , Oftalmopatias/induzido quimicamente , Humanos , Hipertensão/induzido quimicamente , Doenças do Sistema Nervoso/induzido quimicamente
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