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1.
J Fr Ophtalmol ; 44(8): 1190-1201, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34275664

RESUMO

BACKGROUND: To assess the time-efficiency of a designated operating room (OR) workflow in the introduction of femtosecond laser-assisted cataract surgery (FLACS, LenSx, Alcon®). The study was carried out in a public hospital a with high-volume of procedures. METHODS: We performed this prospective, controlled, surgical intervention study in the ophthalmology department of a Spanish tertiary referral public hospital. A total of 167 eyes were enrolled, including 62 eyes undergoing conventional phacoemulsification surgery. In phase I, patients were assigned either to FLACS-I (n=63) or conventional phacoemulsification surgery (n=62). One surgeon operated the femtosecond laser, and another completed the procedure, while a third performed conventional phacoemulsification. In the second phase (FLACS-II), all the surgeries were FLACS (n=42). One surgeon performed the FLACS procedure, and two different surgeons completed the surgeries in separate ORs. Surgical and turnover times of all the patients were recorded. RESULTS: Preparation time was statistically significantly lower in FLACS-I and FLACS-II (P<0.001), whereas the duration of the cataract procedure per se was higher in FLACS-II compared to conventional phacoemulsification (P=0.03). Phacoemulsification energy was higher in FLACS-II compared to FLACS-I (P=0.01), whereas laser-related surgical time was lower (P=0.001). Surgical complications and total surgical time showed no statistically significant differences between any of the three groups. CONCLUSIONS: This study suggests a time-efficient and suitable workflow model for FLACS, considering the specific requirements and restrictions of a fully booked public hospital. Even so, we have shown that the FLACS procedure does not take longer than conventional phacoemulsification when following a detailed plan for OR workflow. In addition, our data reflect an improvement in FLACS surgical times with ongoing experience. TRIAL REGISTRATION: NCT03931629 (retrospectively registered).


Assuntos
Extração de Catarata , Catarata , Terapia a Laser , Oftalmologia , Facoemulsificação , Hospitais Públicos , Humanos , Lasers , Estudos Prospectivos , Acuidade Visual , Fluxo de Trabalho
2.
Seizure ; 77: 7-14, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31882201

RESUMO

In clinical practice, the diagnosis of focal vs generalized epilepsy dictates the management of the patient. The distinction between generalized and focal epilepsy is at times imperfect and some epilepsies have features that fall in between these two extremes. An example is the occurrence of focal interictal and focal ictal abnormalities in generalized epilepsies. As a part of the special issue on "The epileptogenic zone in pediatric epilepsy surgery", this focused narrative review will discuss different focal abnormalities seen in generalized epilepsy. An overlap of focal and generalized epileptiform abnormalities may support a continuum between focal and generalized epilepsy. When evaluating patients in the "gray zone", other factors such as ictal semiology, neuroimaging, genetic testing and functional deficits may need to be considered to reach an accurate diagnosis. Being aware of possible occurrence of focal clinical and EEG features in generalized epilepsy will help clinicians select more preferred AED (s), avoiding potential iatrogenic side effects and inappropriate consideration for epilepsy surgery.


Assuntos
Eletroencefalografia , Epilepsias Parciais/diagnóstico , Epilepsia Generalizada/diagnóstico , Adulto , Criança , Epilepsias Parciais/fisiopatologia , Epilepsia Generalizada/fisiopatologia , Feminino , Humanos , Masculino
3.
Arch Soc Esp Oftalmol ; 80(3): 151-4, 2005 Mar.
Artigo em Espanhol | MEDLINE | ID: mdl-15803425

RESUMO

INTRODUCTION: A practical nomogram has been designed in order to present the results obtained from the Ocular Hypertension Study (Gordon et al. Arch Ophthalmol 2002; 120: 714-720), where the relation between intraocular pressure (IOP) and corneal thickness becomes apparent, involving the risk of evolution from ocular hypertension into glaucoma within a 6 year period. MATERIAL AND METHODS: We used a multiple logarithmic regression for the nine parameters shown in figure 1 of the above mentioned paper. RESULTS: A correlation coefficient of 0.91 (p<0.001) permits to establish the following equation: Probability of evolution (%) = 13539.5 x (1.1385IOP) x (0.9818(CORNEAL THICKNESS)). This implies that a variation of 10 microns on corneal thickness leads to an IOP's modification of 1.5 mmHg in the same sense. From these data, we designed the nomogram included in this paper. CONCLUSIONS: IOP and pachymetry together allow an estimation of the risk of evolution from ocular hypertension into glaucoma in a graphical practical way. From this indirect estimation, the influence of corneal thickness on IOP's measure seems to be much higher than previously estimated.


Assuntos
Nomogramas , Hipertensão Ocular/diagnóstico , Progressão da Doença , Humanos , Pressão Intraocular/fisiologia , Modelos Logísticos , Risco , Tonometria Ocular
4.
Am J Med Genet ; 20(4): 677-84, 1985 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-3993688

RESUMO

A t(X;3) (q26;q13.2) was found in three generations of a family. Female carriers exhibited normal reproductive function, whereas all three postpuberal male carriers showed spermatogenesis arrest at meiosis I. Additionally, a 2 3/12-year-old girl had duplication 3qter resulting from an adjacent-1 segregation.


Assuntos
Cromossomos Humanos 1-3 , Oligospermia/genética , Translocação Genética , Cromossomo X , Adolescente , Adulto , Pré-Escolar , Aberrações Cromossômicas , Bandeamento Cromossômico , Feminino , Heterozigoto , Humanos , Cariotipagem , Linfócitos/ultraestrutura , Masculino , Meiose , Linhagem , Espermatogênese , Espermatozoides/citologia , Testículo/citologia
5.
J Clin Pathol ; 36(6): 697-700, 1983 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-6853734

RESUMO

A new fluorimetric method for the quantification of red blood cell (RBC) sorbitol dehydrogenase is described. It is based on the oxidation of sorbitol to fructose, in presence of NAD+, catalysed by the RBC-sorbitol dehydrogenase. The quantity of NADH formed is then measured in a filter fluorimeter. Comparison with an indirect spectrophotometric assay yielded good correlation; however, the present method offers several advantages: it is more rapid, simple and inexpensive. It should be useful to screen for sorbitol dehydrogenase deficiency in large numbers of individuals, particularly patients with diabetes or cataracts.


Assuntos
Eritrócitos/enzimologia , L-Iditol 2-Desidrogenase/sangue , Desidrogenase do Álcool de Açúcar/sangue , Fluorometria/métodos , Humanos , Cinética , Espectrofotometria
6.
Arch Med Res ; 26(2): 111-3, 1995.
Artigo em Inglês | MEDLINE | ID: mdl-7620274

RESUMO

DNA samples from seven G-6-PD deficient Mexican mestizo patients were analyzed. Three different G-6-PD genotypes were observed: G-6-PD A-202A/376G (three patients), G-6-PD A-376G/968C (three patients) and G-6-PD Seattle844C. The present results, along with previous reports, suggest not only G-6-PD A-genotypes are relatively common but also G-6-PD deficiency seems to be heterogeneous at DNA level in Mexico.


Assuntos
Deficiência de Glucosefosfato Desidrogenase/genética , Glucosefosfato Desidrogenase/genética , África/etnologia , Análise Mutacional de DNA , Testes Genéticos , Genótipo , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Deficiência de Glucosefosfato Desidrogenase/etnologia , Humanos , Itália/etnologia , Masculino , México/epidemiologia , Espanha/etnologia
7.
Arch Med Res ; 23(1): 25-32, 1992.
Artigo em Inglês | MEDLINE | ID: mdl-1308788

RESUMO

Aldose reductase catalyzes the NADPH-linked reduction of hexoses to their respective sugar-alcohols, which are involved in the pathogenesis of "sugar-cataracts". In the lenses, the reaction catalyzed by G-6-PD is the source of NADPH supply blocking sugar-alcohol formation and consequently prevents or delays the onset of "sugar-cataracts". We have investigated the effect of G-6-PD deficiency, either experimentally induced or genetically transmitted, on the sorbitol accumulation in whole cells incubated in high glucose media and on the "sugar-cataracts" formation in a galactosemic rat model. We also screened 31 Negro male adults with diabetes mellitus for red cell G-6-PD deficiency. G-6-PD deficiency produced a significant inhibition on sorbitol accumulation in rat lenses and human red cells incubated in 50 mM glucose. In the galactosemic rat model G-6-PD deficiency experimentally induced with acetaminophen delayed the development of cataracts. Finally, two diabetic individuals were G-6-PD deficient and did not show cataracts whereas cataracts were identified in six other diabetic patients.


Assuntos
Aldeído Redutase/metabolismo , Deficiência de Glucosefosfato Desidrogenase/metabolismo , L-Iditol 2-Desidrogenase/metabolismo , Sorbitol/metabolismo , Acetaminofen/farmacologia , Acetaminofen/toxicidade , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Animais , População Negra/genética , Catarata/etiologia , Catarata/metabolismo , Catarata/prevenção & controle , Criança , Cloranfenicol/farmacologia , Costa Rica/epidemiologia , Desidroepiandrosterona/farmacologia , Complicações do Diabetes , Diabetes Mellitus/metabolismo , Modelos Animais de Doenças , Eritrócitos/metabolismo , Galactosemias/complicações , Galactosemias/metabolismo , Glucosefosfato Desidrogenase/antagonistas & inibidores , Deficiência de Glucosefosfato Desidrogenase/induzido quimicamente , Deficiência de Glucosefosfato Desidrogenase/complicações , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Deficiência de Glucosefosfato Desidrogenase/genética , Humanos , Incidência , Cristalino/metabolismo , Masculino , Pessoa de Meia-Idade , NADP/metabolismo , Oxirredução , Ratos , Ratos Sprague-Dawley
8.
Gac Med Mex ; 132(4): 433-7, 1996.
Artigo em Espanhol | MEDLINE | ID: mdl-8964384

RESUMO

We present a case of acute lethal poisoning by oil of "epazote" (oil of chenopodium), in a 2 y 9 m female. The volatile oil was administered according to the advice of a "curandera" (female healer), in a total quantity of 40 ml. Clinical features of the poisoning were: vomiting, deep coma, seizures, mydriasis, apnea, metabolic acidosis, neurogenic shock and death. The EEG suggested a diffuse encephalopathy, the CT scan with an image of severe brain edema and ventricular collapse. Relevant postmortem findings were brain edema and neuronal necrosis, pneumonia, enteritis, pericholangitis, mild pancreatitis and tubular necrosis. The phytochemical analysis of volatile oil identified ascaridol, the main active compound of the chenopodium herbs, in a quantity of 39 mg/ml (1,560 mg in the dose administered), and Chenopodium graveolens as the plant employed to prepare it. According to the age of the patient, 60 mg of ascaridol would be the recommended dose formerly used in the treatment of parasitic disease. Thus 1,560 mg was 26 times higher than the recommended dose, and exceeded by 56% the dose of 1,000 mg reported as lethal in humans.


Assuntos
Óleos de Plantas/intoxicação , Terpenos/intoxicação , Pré-Escolar , Evolução Fatal , Feminino , Humanos
9.
Brain Struct Funct ; 216(2): 137-49, 2011 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-21153903

RESUMO

The insula is the fifth lobe of the brain and it is the least known. Hidden under the temporal, frontal and parietal opercula, as well as under dense arterial and venous vessels, its accessibility is particularly restricted. Functional data on this region in humans, therefore, are scarce and the existing evidence makes conclusions on its functional and somatotopic organization difficult. 5 patients with intractable epilepsy underwent an invasive presurgical evaluation with implantation of diagnostic invasive-depth electrodes, including insular electrodes that were inserted using a mesiocaudodorsal to laterorostroventral approach. Altogether 113 contacts were found to be in the insula and were stimulated with alternating currents during preoperative monitoring. Different viscerosensitive and somatosensory phenomena were elicited by stimulation of these electrodes. A relatively high density of electrode contacts enabled us to delineate several functionally distinct areas within the insula. We found somatosensory symptoms to be restricted to the posterior insula and a subgroup of warmth or painful sensations in the dorsal posterior insula. Viscerosensory symptoms were elicited by more anterior electrode contacts with a subgroup of gustatory symptoms occurring after stimulation of electrode contacts in the central part of the insula. The anterior insula did not show reproducible responses to stimulation. In line with previous studies, we found evidence for somato- and viscerosensory cortex in the insula. In addition, our results suggest that there is a predominantly posterior and central distribution of these functions in the insular lobe.


Assuntos
Mapeamento Encefálico/métodos , Córtex Cerebral/anatomia & histologia , Córtex Cerebral/fisiologia , Epilepsia/fisiopatologia , Sensação/fisiologia , Adulto , Análise de Variância , Estimulação Encefálica Profunda/métodos , Eletrodos Implantados , Eletroencefalografia/métodos , Feminino , Humanos
14.
J Bacteriol ; 131(3): 719-25, 1977 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-142762

RESUMO

The final products of the arginine catabolism that can be utilized as a nitrogen source in Neurospora crassa are ammonium, glutamic acid, and glutamine. The effect of these compounds on arginase induction by arginine was studied. In wild-type strain 74-A, induction by arginine was almost completely repressed by glutamic acid plus ammonium, whereas ammonium or glutamic acid alone had only moderate effects. Arginine products of catabolism also repressed arginase induction. A mutant, ure-1, which lacks urease activity, hyperinduced its arginase with arginine as a nitrogen source. The addition of either ammonium or glutamine produced effects similar to those in the wild-type strain. The effect of ammonium on arginase induction is mediated through its conversion into glutamine. This was demonstrated in mutant am-1, which lacks L-glutamate dehydrogenase activity. In this mutant, the effect of glutamic acid was reduced, and, with ammonium, it was completely lost. The addition of glutamine or glutamic acid plus ammonium to this strain decreased by threefold the induction of arginase by arginine. Proline, a final product of arginine catabolism, competitively inhibited arginase activity. This effect and the repression of arginase by glutamine are examples of negative modulation of the first enzyme in a catabolic pathway by its final products.


Assuntos
Arginase/biossíntese , Neurospora crassa/enzimologia , Neurospora/enzimologia , Nitrogênio/metabolismo , Amônia/metabolismo , Arginase/metabolismo , Arginina/metabolismo , Indução Enzimática , Repressão Enzimática , Glutamato Desidrogenase/biossíntese , Glutamatos/metabolismo , Glutamina/metabolismo , Mutação , Neurospora crassa/metabolismo , Ornitina/metabolismo , Prolina/metabolismo , Urease/biossíntese
15.
Blood Cells Mol Dis ; 26(4): 387-94, 2000 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-11042039

RESUMO

In a screening for glucose-6-phosphate dehydrogenase (G-6-PD) deficiency in 1985 unrelated male subjects from the general population (Groups A and B) belonging to four states of the Pacific coast, 21 G-6-PD-deficient subjects were detected. Screening for mutations at the G-6-PD gene by PCR-restriction enzyme in these 21 G-6-PD-deficient subjects as well as in 14 G-6-PD-deficient patients with hemolytic anemia belonging to several states of Mexico showed two common G-6-PD variants: G-6-PD A-(202A/376G) (19 cases) and G-6-PD A-(376G/968C) (9 cases). In 7 individuals the mutations responsible for the enzyme deficiency remain to be determined. Furthermore, four silent polymorphic sites at the G-6-PD gene (PvuII, PstI, 1311, and NlaIII) were investigated in the 28 individuals with G-6-PD A- variants and in 137 G-6-PD normal subjects. As expected, only 10 different haplotypes were observed. To date, in our project aiming to determine the molecular basis of G-6-PD deficiency in Mexico, 60 unrelated G-6-PD-deficient Mexican males-25 in previous studies and 35 in the present work-have been studied. More than 75% of these individuals are from states of the Pacific coast (Sinaloa, Nayarit, Jalisco, Michoacán, Guerrero, Oaxaca, and Chiapas). The results show that although G-6-PD deficiency is heterogeneous at the DNA level in Mexico, only three polymorphic variants have been observed: G-6-PD A-(202A/376G) (36 cases), G-6-PD A-(376G/968C) (13 cases), and G-6-PD Seattle(844C) (2 cases). G-6-PD A- variants are relatively distributed homogeneously and both variants explain 82% of the overall prevalence of G-6-PD deficiency. The variant G-6-PD A-(202A/376G) represents 73% of the G-6-PD A- alleles. Our data also show that the variant G-6-PD A-(376G/968C)-which has been observed in Mexico in the context of two different haplotypes-is more common than previously supposed. The three polymorphic variants that we observed in Mexico are on the same haplotypes as found in subjects from Africa, the Canary Islands, and Spain.


Assuntos
Glucosefosfato Desidrogenase/genética , Haplótipos , Indígenas Norte-Americanos/genética , Mutação , DNA/química , DNA/genética , Análise Mutacional de DNA , Frequência do Gene , Deficiência de Glucosefosfato Desidrogenase/genética , Humanos , Masculino , México , Polimorfismo Genético
16.
J Bacteriol ; 155(1): 1-7, 1983 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-6134713

RESUMO

The final products of the catabolism of arginine that can be utilized as nitrogen sources by Neurospora crassa are ammonium, glutamic acid, and glutamine. Of these compounds, only glutamine represses arginase and glutamine synthetase. We report here the isolation and characterization of a mutant of N. crassa whose arginase, glutamine synthetase, and amino acid accumulations are resistant to glutamine repression (glnI). This mutant has a greater capacity than the wild type (glns) to accumulate most of the arginine and some of the glutamine in osmotically sensitive compartments while growing exponentially. Nonetheless, the major part of the glutamine remains soluble and metabolically available for repression. We propose that the lower repression of glutamine synthetase by glutamine in this mutant could be a necessary condition for sustaining the higher flow of nitrogen for the accumulation of amino acids observed in ammonium excess and that, if glutamine is the nitrogen signal that regulates the arginine accumulation of the vesicle, the glnr mutant has also escaped this control. Finally, in the glnr mutant, some glutamine resynthesis is necessary for arginine biosynthesis and accumulation.


Assuntos
Glutamina/metabolismo , Mutação , Neurospora crassa/genética , Neurospora/genética , Aminoácidos/metabolismo , Arginase/genética , Indução Enzimática , Glutamato Sintase/genética , Glutamato-Amônia Ligase/genética , Cinética , Neurospora crassa/crescimento & desenvolvimento , Neurospora crassa/metabolismo , Fenótipo , Especificidade da Espécie
17.
Ann Genet ; 26(3): 191-2, 1983.
Artigo em Inglês | MEDLINE | ID: mdl-6606384

RESUMO

The utility of a simplified diagram of procedures for screening specimens for genetic disorders in galactose metabolism is stressed. Both, early detection and institution of the dietetic treatment are imperative since these inherited disorders have clinical and pathological consequences which can be very severe in galactose-1-phosphate uridyltransferase and uridine diphosphate galactose-4-epimerase deficiencies.


Assuntos
Galactosemias/prevenção & controle , Erros Inatos do Metabolismo/diagnóstico , UDPglucose 4-Epimerase , Carboidratos Epimerases/deficiência , Galactoquinase/deficiência , Galactosemias/enzimologia , Humanos , Recém-Nascido , UTP-Hexose-1-Fosfato Uridililtransferase/deficiência
18.
Blood Cells Mol Dis ; 23(1): 88-94, 1997.
Artigo em Inglês | MEDLINE | ID: mdl-9215753

RESUMO

Several studies carried out between 1965 and 1985 showed that G-6-PD deficiency in Mexico is heterogeneous at the biochemical level and that the G-6-PD A- phenotype is relatively common. We have now investigated the molecular basis of G-6-PD deficiency in Mexico. Up-to-date 60 chromosomes with G6PD mutations have been studied, 16 in previous studies and 44 in the present work. Molecular analysis of DNA from G-6-PD deficient Mexican mestizos and their relatives show that G-6-PD A- genotypes are relatively common but also that in Mexico G-6-PD deficiency is heterogeneous at the DNA level. Thus, five different genotypes have been observed: G-6-PD A-(202A/376G) (41 chromosomes), G-6-PD A-(376G/968C) (14 chromosomes), G-6-PD Seattle844C (3 chromosomes), G-6-PD "Mexico City"680A (1 chromosome) and G-6-PD Guadalajara1159T (1 chromosome). The G-6-PD A-(202A/376G), G-6-PD A-(376G/968C) and G-6-PD Seattle844C mutations in Mexico are on the same Pvu II/ Pst I/ 1311 / Nla III haplotypes as found in individuals from Africa, Spain and the Canary Islands. Consequently, these mutations were probably imported to Mexico through African slaves and/or the Spanish immigrants during and after the colonization.


Assuntos
Deficiência de Glucosefosfato Desidrogenase/genética , Glucosefosfato Desidrogenase/genética , Mutação , Adulto , Feminino , Genótipo , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Haploidia , Humanos , Indígenas Norte-Americanos/genética , Masculino , México/epidemiologia , População Branca/genética
19.
Ann Genet ; 22(3): 182-4, 1979.
Artigo em Inglês | MEDLINE | ID: mdl-316678

RESUMO

A simple, rapid (2 hours), fluorescent test for the activity of blood adenosine deaminase (ADA) is described. The test which can be performed on both heparinized and dried blood, is based on the conversion of adenosine to inosine and ammonium in the presence of ADA. The enzyme activity is visually estimated by the oxidation of NADH (fluorescent) to NAD+ (non-fluorescent) in a coupled reaction with glutamate dehydrogenase. The disappearance of fluorescence indicates ADA activity in the sample. The advantages are discussed of the use of this test for the study of the autosomal recessive severe combined immunodeficiency.


Assuntos
Adenosina Desaminase/sangue , Nucleosídeo Desaminases/sangue , Adenosina Desaminase/deficiência , Ensaios Enzimáticos Clínicos , Fluorescência , Humanos , Síndromes de Imunodeficiência/diagnóstico , Erros Inatos do Metabolismo/diagnóstico
20.
Ann Genet ; 32(1): 33-5, 1989.
Artigo em Inglês | MEDLINE | ID: mdl-2751245

RESUMO

An electrophoretic study of sorbitol dehydrogenase (SORD) in sperm and seminal plasma (SP) was realized. In SP, three phenotypes (one slow band, one fast, and both bands) were observed, corroborating the electrophoretic variability of SP-SORD formerly reported by us, while, in sperm, SORD showed a phenotype of one band faster than the one of SP. Biochemical studies showed that thiol groups participate in the mobility of the SP fast band; furthermore, an interchange of the bands of SP-SORD was observed which suggests that the isozymes are due to conformational isomerism or to molecular aggregates.


Assuntos
L-Iditol 2-Desidrogenase/metabolismo , Sêmen/enzimologia , Espermatozoides/enzimologia , Desidrogenase do Álcool de Açúcar/metabolismo , Eletroforese em Gel de Poliacrilamida , Humanos , L-Iditol 2-Desidrogenase/genética , Masculino
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