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1.
Medchemcomm ; 10(1): 120-127, 2019 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-30774860

RESUMO

A series of novel indazole-pyrone hybrids were synthesized by a one pot reaction between N-alkyl-6(5)-nitroindazoles and 2-pyrone (4-hydroxy-6-methyl-2H-pyran-2-one) using indium or stannous chloride as the reducing system in the presence of acetic acid in tetrahydrofuran. The hybrid molecules were obtained in good to excellent yields (72-92%) and characterized by NMR and single crystal X-ray diffraction. Nineteen compounds were tested in vitro against both Leishmania donovani (MHOM/ET/67/HU3, also called LV9) axenic and intramacrophage amastigotes. Among all, five compounds showed anti-leishmanial activity against intracellular L. donovani with an IC50 in the range of 2.25 to 62.56 µM. 3-(1-(3-Chloro-2-ethyl-2H-indazol-6-ylamino)ethylidene)-6-methyl-3H-pyran-2,4-dione 6f was found to be the most active compound for axenic amastigotes and intramacrophage amastigotes of L. donovani with IC50 values of 2.48 ± 1.02 µM and 2.25 ± 1.89 µM, respectively. However, the cytotoxicity of the most promising compound justifies further pharmacomodulations.

2.
Mar Genomics ; 8: 49-58, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23199880

RESUMO

Since the first molecular study of the suborder Notothenioidei in 1994, many phylogenetic studies have been published. Among these, those with a sufficient number of taxa have all suggested that the Nototheniidae, as currently defined, is monophyletic only with the inclusion of the Channichthyidae, Artedidraconidae, Bathydraconidae and Harpagiferidae. This is corroborated by more recent studies including more taxa, but in these studies either the number of nuclear markers or the number of taxa included remained low. We obtained sequences for a large sampling covering most nototheniid genera for five markers described previously for other samplings (COI, Rhodopsin retrogene, Pkd1, HECW2, and SSRP1) and one nuclear marker never used before in phylogenetic inference (PPM1d). The topology for the combined analysis of the nuclear coding genes, as well as the topology for SSRP1 (non-coding) and the combined analysis for all markers all support the paraphyly of Nototheniidae, the genus Notothenia (including Paranotothenia) is the sister group of the clade Channichthyidae, Artedidraconidae, Bathydraconidae and Harpagiferidae, and genus Gobionotothen is a sister group to both. As in previous studies, Trematomus, Lepidonotothen and Patagonotothen form a clade that also includes Indonotothenia cyanobrancha. The position of Pleuragramma antarctica, Dissostichus species and Aethotaxis mitopteryx remains unstable and dependant on markers and analyses. We therefore propose the inclusion of the four families of the High Antarctic clade in the Nototheniidae, and their transformation into subfamilies. We transfer Paranotothenia magellanica to the genus Notothenia, as Notothenia magellanica.


Assuntos
DNA Mitocondrial/genética , Marcadores Genéticos/genética , Perciformes/classificação , Perciformes/genética , Filogenia , Animais , Variação Genética , Dados de Sequência Molecular
3.
Mol Phylogenet Evol ; 65(1): 87-101, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22683562

RESUMO

The teleost suborder Notothenioidei is restricted to the Southern Ocean and has been described as a species flock spanning the whole of it. Within the suborder, the subfamily Trematominae is important for coastal Antarctic ecosystems. The eleven Trematomus species occupy a large range of ecological niches. The genus is monophyletic if the genus Pagothenia (two additional species) and Cryothenia amphitreta, also nested within it, are included. Although the Trematominae have received much interest, the relationships among these fourteen species are still unclear. Several recent studies have tried to resolve these interrelationships; however no complete and clear picture has emerged, probably because of the use of a low number of insufficiently variable markers. The only common results places T. scotti as the sister-group of the rest of the subfamily and T. loennbergi close to T. lepidorhinus. We use here more variable markers. Four nuclear markers, two of which are new, and a mitochondrial marker for the biggest trematomine sampling ever gathered (14 species, 78 specimens). We found that several nuclear haplotypes are shared by several species (mostly in very closely related species). The haplotype patterns coupled with the cytogenetics of the subfamily suggest that a phenomenon of incomplete lineage sorting (ILS) is likely to be at play. Using a calibration linked to fossil evidence, we evaluate the relative ages of each clade within the Trematominae to assess the proximity of the speciation events to one another. The main trematomine diversification was recent and sudden.


Assuntos
Evolução Biológica , Peixes/classificação , Filogenia , Animais , Regiões Antárticas , Teorema de Bayes , Núcleo Celular/genética , DNA Mitocondrial/genética , Peixes/genética , Haplótipos , Funções Verossimilhança , Análise de Sequência de DNA
4.
Eur Respir J ; 37(1): 157-63, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20530045

RESUMO

The interpretation of pulmonary function tests relies on reference values corrected for age, sex and height. Height may be difficult to measure in patients with deformities of the thoracic cage or those unable to stand up properly. Current practice is to substitute arm span to height, once corrected either by a fixed factor or by an age- and sex-dependent regression equation. However arm span may be difficult to measure in some patients. This study evaluated the relationship between arm span, measured height, height as mentioned on an identity document (ID), sex and age in a population of 2,452 Caucasian subjects with no chest or spine deformities. The present study demonstrates that age and sex have to be taken into account to best predict height from arm span or ID height values. The equations predicting height from ID height give the best diagnosis concordance compared to reference in males and females. Age correction does not improve concordance below 70 yrs. The estimation of height from ID height can be substituted to that from arm span when clinically relevant, providing ID height has been measured before the occurrence of stature problems.


Assuntos
Espirometria/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Antropometria , Braço , Estatura , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Análise de Regressão , Testes de Função Respiratória
5.
Arch Esp Urol ; 59(6): 653-9, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-16933500

RESUMO

OBJECTIVES: There are few studies on crystalluria in the developing countries. The aim of the present study was carrying out a first study in Morocco on the frequency and the chemical nature of the crystalluria according to the sex and the age of human individuals living in the Tadla Azilal moroccan area. METHOD: 200 samples resulting from the morning urines of morning fasting individuals of the two sexes and different ages were collected. The pH was measured by a portable pH-meter "Pocket pH-meter ad 170 pH". The identification of the chemical nature of the crystalluria was carried out using a polarized light microscope "Olympus BX41". Such identification was based on morphology, polarization, and the pH of the urinary crystals. RESULTS: In this series the positive frequency of crystalluria was 25.4% and was distributed on 3 age groups so that 27.9% in the youngest group, 32.6% in the middle aged group and 39.5% in the oldest one. The distribution on the sex is such as 53.4% in the man and 46.5% in the woman. A large majority (83.7%) of the crystalluria consists of homogeneous crystalluria. In the man, the Weddellite is dominant (69.6%) in the crystalluria while in the woman the Weddellite yields the place to the two phases of the uric acid (60%). CONCLUSIONS: The studied series presents a non high frequency of crystalluria, which increases with the age. The factor sex has weakly increased the frequency of crystalluria in the man compared to the woman. The oxalocalcic nature is dominant in the crystalluria resulting from the man while it is the uric nature that is so in the woman. Other studies are necessary to be able to understand the etiology of a such difference, in the chemical nature of the crystalluria, between the two sexes.


Assuntos
Doenças Metabólicas/urina , Adolescente , Adulto , Cristalização , Feminino , Humanos , Masculino , Doenças Metabólicas/epidemiologia , Marrocos/epidemiologia
6.
J Fr Ophtalmol ; 29(6): 625-8, 2006 Jun.
Artigo em Francês | MEDLINE | ID: mdl-16885891

RESUMO

INTRODUCTION: Plateau iris predisposes to the onset of an angle-closure glaucoma attack without pupillary block. This is a morphological anomaly of the iris characterized by anterior insertion, root thickness greater than the norm, and anterior rotation of the ciliary processes into the posterior chamber, pushing the base of the iris into the angle. Argon laser iridoplasty is useful to retract the peripheral iris using the thermal effect of the laser to widen the iridocorneal angle. MATERIALS AND METHODS: The study investigated nine eyes of five patients who had had iridoplasty for iris plateau angle-closure glaucoma, diagnosed by dynamic gonioscopy (or indentation gonioscopy) and confirmed by ultrasound biomicroscopy (UBM). There were four females and one male, with a mean age of 42.2 years (range, 30-53 years). The mean intraocular pressure (IOP) before iridoplasty was 21.1 mmHg. The number of antiglaucoma treatments was 1 or 2, with all patients receiving miotic treatment. All patients had undergone argon laser iridotomy beforehand to remove the pupillary block frequently associated with iris plateau. Iridoplasty was done in two sessions with postoperative IOP-lowering treatment. The laser parameters used were: duration, 0.3 s; power, 500 mW; diameter, 300 microm. RESULTS: The postoperative IOP evaluated at 1 month was 14.4 mmHg with a reduction in the hypotensive treatment. No treatment was prescribed for four eyes, a single hypotensive treatment for four eyes, and two hypotensive medications for one eye. DISCUSSION: Pure iris plateau syndrome, leading to closure of the angle, is very rare compared to pupillary block, but these two mechanisms often co-exist. The physiopathology explains that the mechanism of isolated iris plateau is not modified by iridectomy. However, the advantage of argon laser iridoplasty, which retracts the periphery of the iris so as to widen the iridocorneal angle, must be emphasized. This technique can alleviate the need for high-risk filtering surgery, but longer follow-up is necessary to evaluate its duration and efficacy.


Assuntos
Glaucoma de Ângulo Fechado/complicações , Glaucoma de Ângulo Fechado/cirurgia , Iris/anormalidades , Iris/cirurgia , Terapia a Laser , Adulto , Argônio , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Síndrome
7.
Arch. esp. urol. (Ed. impr.) ; 59(6): 653-659, jul.-ago. 2006. tab
Artigo em En | IBECS | ID: ibc-049364

RESUMO

OBJETIVO: Hay pocos estudios sobre la cristaluria en países en desarrollo. El objeto de este estudio fue llevar a cabo un primer estudio en Marruecos sobre la frecuencia y la naturaleza química de la cristaluria de los habitantes de la zona de Tadla Azilal en función del sexo y la edad. MÉTODOS: Se recogieron 200 muestras de orina de la primera micción de la mañana de individuos en ayunas de ambos sexos y diferentes edades. Se midieron pHs con un medidor de pH portátil “ Pocket pHmeter ad 110 pH”. La identificación de la naturaleza química de la cristaluria se llevó a cabo utilizando un microscopio de luz polarizada Olympus BX41. La identificación se basó en la morfología, la polarización y el pH de los cristales urinarios. RESULTADOS: En esta serie, la frecuencia de cristaluria fue de 25,4% y se distribuía en tres grupos de edad, con 27,9% en el grupo más joven, 32,6% en el grupo de edad media y 39,5% en el grupo de mayor edad. La distribución por sexos fue de 53,4% en varones y 46,5% de mujeres. Una gran mayoría (83,7%) de la cristaluria era cristaluria homogénea. En el varón la cristaluria dominante es la de oxalato cálcico (weddelita) (69, 6%), mientras que en la mujer cede el puesto a las dos fases de ácido úrico (60%). CONCLUSIONES: Las serie del estudio no presentan una frecuencia elevada de cristaluria, aunque aumenta con la edad. La frecuencia de cristaluria aumenta levemente en el hombre en comparación con la mujer. El oxalato cálcico domina en la cristaluria del varón mientras que el ácido úrico lo hace en la mujer. Se necesitan otros estudios para poder entender la etiología de la diferente naturaleza de la cristaluria entre sexos


OBJECTIVES: There are few studies on crystalluria in the developing countries. The aim of the present study was carrying out a first study in Morocco on the frequency and the chemical nature of the crystalluria according to the sex and the age of human individuals living in the Tadla Azilal moroccan area. METHOD: 200 samples resulting from the morning urines of morning fasting individuals of the two sexes and different ages were collected. The pH was measured by a portable pH-meter “Pocket pH-meter ad 110 pH”. The identification of the chemical nature of the crystalluria was carried out using a polarized light microscope “Olympus BX41”. Such identification was based on morphology, polarization, and the pH of the urinary crystals. RESULTS: In this series the positive frequency of crystalluria was 25.4 % and was distributed on 3 age groups so that 27.9% in the youngest group, 32.6% in the middle aged group and 39.5% in the oldest one. The distribution on the sex is such as 53.4% in the man and 46.5% in the woman. A large majority (83.7%) of the crystalluria consists of homogeneous crystalluria. In the man, the Weddellite is dominant (69.6%) in the crystalluria while in the woman the Weddellite yields the place to the two phases of the uric acid (60%). CONCLUSIONS: The studied series presents a non high frequency of crystalluria, which increases with the age. The factor sex has weakly increased the frequency of crystalluria in the man compared to the woman. The oxalocalcic nature is dominant in the crystalluria resulting from the man while it is the uric nature that is so in the woman. Other studies are necessary to be able to understand the etiology of a such difference, in the chemical nature of the crystalluria, between the two sexes


Assuntos
Masculino , Feminino , Adulto , Adolescente , Humanos , Doenças Metabólicas/urina , Cristalização , Doenças Metabólicas/epidemiologia , Marrocos/epidemiologia
8.
Eur J Ophthalmol ; 14(1): 26-36, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-15005582

RESUMO

PURPOSE: Nonpenetrating trabeculectomy, also called nonpenetrating deep sclerectomy (NPDS), is a filtering surgery where the internal wall of Schlemm's canal is excised, allowing subconjunctival filtration without actually entering the anterior chamber. This, technique was developed to minimize the complications of trabeculectomy. The authors investigated its safety and efficacy in a retrospective noncomparative study. METHODS: A total of 258 eyes (179 patients, mean age 61.4 +/- 11.56 years) with uncontrolled open angle glaucoma with prior medical therapy were treated. NPDS with a biocompatible collagen device (157 eyes) sutured to deep scleral bed or with the use of a 5-fluorouracil sponge (90 eyes) were analyzed. The main outcome measure was postoperative intraocular pressure (IOP) with an average follow-up of 54.4 +/- 17.07 months (range 1-85). Efficacy was determined 1 month, 3 months, and every 6 months after the procedure for 6 years. RESULTS: Mean preoperative IOP was 24.47 +/- 5.92 mmHg. Mean postoperative IOP was 14.44 +/- 5.31 mmHg (average lowering of the IOP was 38.94 +/- 23.81%) at 1 month, 15.16 +/- 4.57 mmHg (35.73 +/- 21.35%) at 3 months, 15.87 +/- 4.24 mmHg (32.45 +/- 20.52%) at 6 months, 16.32 +/- 4.53 mmHg (29.96 +/- 23.69%) at 12 months, 17.12 +/- 4.45 mmHg (26.51 +/- 23.93%) at 18 months, 16.77 +/- 4.44 mmHg (28.18 +/- 21.73%) at 24 months, 16.43 +/- 4.15 mmHg (28.89 +/- 23.69%) at 30 months, 16.34 +/- 4.12 mmHg (30.05 +/- 21.61%) at 36 months, 16.16 +/- 4.01 mmHg (30.06 +/- 22.55%) at 42 months, 15.71 +/- 3.74 mmHg (32.49 +/- 19.08%) at 48 months, 15.61 +/- 3.48 mmHg (31.26 +/- 21.01%) after 5 years, and 15.81 +/- 3.79 mmHg (33.73 +/- 20.9%) after 6 years. YAG goniopuncture was performed in 47.3% of cases with a mean follow-up of 12 +/- 13 months. These goniopunctures were effective in lowering IOP after a long-term follow-up (24 months). Additional 5-fluorouracil injections were used in 7% of cases. Visual field (Octopus or Humphrey mean defect and corrected loss variance or loss variance) was not modified (p < 0.01). Number of preoperative glaucoma medications was 2.01 +/- 0.58 and number of postoperative glaucoma medications was 0.85 +/- 0.92. Complications were peroperative microperforations in 27 eyes (10.5%), shallow anterior chamber in 2 eyes, hyphema in 2 eyes (0.8%), cataract in 5 eyes (2%), and dellen in 1 eye (0.4%). No cases of endophthalmitis or choroidal detachment were found. After surgery, 23 eyes (8.9%) required a new filtering surgical procedure, and diode laser cyclophotocoagulation was necessary in 2 eyes (0.8%). The probability success rate, defined as an IOP lower than 21 mmHg, was 66.46% (Kaplan Meier) at 60 months off all glaucoma medications and 80.32% with medical or new surgical treatment. CONCLUSIONS: NPDS appears to be an effective and safe filtering procedure for lowering IOP and could be an alternative to trabeculectomy in open angle glaucoma with the advantage of having fewer complications.


Assuntos
Glaucoma de Ângulo Aberto/cirurgia , Esclerostomia/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Materiais Biocompatíveis , Colágeno , Feminino , Fluoruracila/administração & dosagem , Seguimentos , Humanos , Pressão Intraocular , Complicações Intraoperatórias , Masculino , Pessoa de Meia-Idade , Próteses e Implantes , Estudos Retrospectivos , Segurança , Acuidade Visual , Campos Visuais
9.
J Fr Ophtalmol ; 26 Spec No 2: S23-30, 2003 Oct.
Artigo em Francês | MEDLINE | ID: mdl-14646828

RESUMO

This study reports four clinical cases of papillary drusen associated with OHT. The authors show the advantages of HRT, OCT2, and GDx for exploring the optic nerve and/or the retinal nerve fiber layer (RNFL). The repercussions of drusen on the optic nerve head may precede visual field failure. Better knowledge of the interpretation of these new imaging techniques may help define the respective roles of drusen and OHT, in case of visual field attack, and treatment modalities. These new procedures may help us to monitor drusen and their progression potential.


Assuntos
Drusas do Disco Óptico/diagnóstico , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
10.
J Fr Ophtalmol ; 26(2): 137-41, 2003 Feb.
Artigo em Francês | MEDLINE | ID: mdl-12660586

RESUMO

PURPOSE: The aim of this study was to evaluate a scoring system for chronic open-angle glaucoma. We devised an empirical scoring system grading severity of the disease and correlated this with treatment. MATERIAL: and methods: Ninety patients were evaluated on 11 parameters: 1) Family history of glaucoma: blindness (2), yes (1) no (1); 2) Age: infantile (4), juvenile (4); 3) Race: Caucasian (0), Asian (1), Afro-Caribbean (2); 4) Myopia: 0-6 diopters (1), 6-12 diopters (2),>12 diopters (3); 5) Pigment dispersion or pseudoexfoliation (1); 6) Intraocular pressure without treatment:>30 mmHg (4); 25-30 mmHg (3), 20-25 mmHg (2); 7) Corneal central thickness:<500 micro m (3),>500 micro m (0); 8) Optic disc appearance: suspect (1), pathological (4); 9) Visual field defect: early (1), moderate (3), advanced (5); 10) Vascular risk factors: yes (1), no (0); 11) Loss of eyesight in one eye due to glaucoma (4). Scoring values were 2-34. We correlated this score with patient treatment: medical or surgical, number of glaucoma medications. RESULTS: Patients were divided into three groups: group 1 (36 patients), score 0-8; group 2 (24 patients), score 9-13; group 3 (30 patients), score above 13. Distribution between patients treated with medicine (mean number of medications) and patients with filtering surgery was: group 1, medical treatment with 1.63+/-0.73 medications, surgery 4/36; group 2, medical treatment with 2.00+/-0.7 medications, surgery 17/24 and group 3, medical treatment with 2.12+/-0.67 medications, surgery 27/30. In group 1, 88% of the patients did not have filtering surgery, but 90% of the patients in group 3 had filtering surgery. CONCLUSION: This scoring system seems to be an easy and practical tool to evaluate chronic open-angle glaucoma, which could also be used to evaluate target pressure. Other studies are necessary to validate this scoring system.


Assuntos
Glaucoma de Ângulo Aberto/diagnóstico , Adolescente , Adulto , Criança , Doença Crônica , Humanos , Índice de Gravidade de Doença
11.
Clin Genet ; 60(3): 220-5, 2001 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-11595024

RESUMO

Primary open-angle glaucoma (POAG) is a highly prevalent optic neuropathy and a major cause of irreversible blindness, with elevation of intraocular pressure (IOP) being a primary risk factor. The trabecular meshwork-inducible glucocorticoid response (TIGR)/MYOCILIN (MYOC) gene coding region is mutated in 3-4% of POAG patients. Here, in a retrospective study of 142 POAG patients, we evaluated the influence on glaucoma phenotype of a novel biallelic polymorphism (-1000C/G) located in the upstream region of the MYOC gene. Allele frequencies were similar among patients and controls. However, the G allele (frequency 17.6%), also designated as MYOC.mt1, was associated with an increased IOP (+4.9 mmHg, p=0.0004) and a more damaged visual field (p=0.02). Both effects were predominant in females. Moreover, whereas IOP in MYOC.mt1 noncarriers decreased very markedly to the normal range between diagnosis and inclusion in the study (p=3 x 10(-5) in both males and females), reflecting successful therapy, it decreased less noticeably in MYOC.mt1+ male patients (p=0.005) and not at all in MYOC.mt1+ female patients. MYOC.mt1 appears therefore to be an indicator of poor IOP control and greater visual field damage in diagnosed POAG patients, potentially due to a lack of response to therapeutic intervention. Its typing might help in the selection of treatment paradigms for the management of POAG patients.


Assuntos
Proteínas do Olho/genética , Glaucoma de Ângulo Aberto/genética , Glicoproteínas/genética , Polimorfismo de Nucleotídeo Único , Regiões Promotoras Genéticas , Alelos , Proteínas do Citoesqueleto , Feminino , Genótipo , Humanos , Masculino , Fenótipo , Polimorfismo Genético , Estudos Retrospectivos , Fatores Sexuais
13.
Eur Respir J ; 12(4): 759-63, 1998 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-9817141

RESUMO

This study aimed to assess the ability of an auto-nasal continuous positive airway pressure (nCPAP) device (REM + auto; NPBFD, Nancy, France) to predict the optimal constant nCPAP level. The apnoea/hypopnoea detection facility of the auto-nCPAP device was deliberately disabled and nasal mask pressure vibration detection was the only mode of pressure setting. The auto-nCPAP device was tested on 10 previously untreated patients with obstructive sleep apnoea during a single night, with ambulatory polysomnography performed in a conventional hospital room; the efficacy of the fixed pressure determined by the auto-nCPAP device was assessed by an ambulatory full polysomnography 2 weeks after the initiation of treatment at home. The fixed nCPAP pressure was effective (apnoea/hypopnoea and arousal indices <10 events x h(-1)) in all but two of the 10 patients studied. When the fixed nCPAP pressure was increased by 2 cmH2O in these two patients, sleep and respiration were normalized. Since only 12 ambulatory polysomnographic recordings were used to determine the effective nasal continuous positive airway pressure level, and as the device restored normal breathing and sleep in all 10 patients, it was concluded that this method of nasal continuous positive airway pressure titration may improve cost-effectiveness and reduce waiting lists in sleep laboratories.


Assuntos
Respiração com Pressão Positiva/economia , Respiração com Pressão Positiva/instrumentação , Síndromes da Apneia do Sono/terapia , Ronco/terapia , Ventiladores Mecânicos/economia , Adulto , Feminino , Custos de Cuidados de Saúde , Humanos , Masculino , Máscaras , Pessoa de Meia-Idade , Polissonografia , Respiração com Pressão Positiva/métodos , Prognóstico , Síndromes da Apneia do Sono/diagnóstico , Ronco/diagnóstico , Resultado do Tratamento
14.
Am J Med Genet ; 76(5): 438-45, 1998 Apr 13.
Artigo em Inglês | MEDLINE | ID: mdl-9556305

RESUMO

Open-angle glaucoma (POAG) is a highly prevalent cause of visual impairment. Six families grouping 71 living patients affected with juvenile-onset and middle-age POAG (age at diagnosis ranging from 10 to 65 years) were linked to the GLC1A locus. All patients carried a mutation of an evolutionarily conserved asparagine residue to a lysine at position 480 (N480K) in the olfactomedin-homology domain, which is encoded by the third exon of the GLC1A gene. The N480K mutation was also identified in 14 unaffected carriers who are at high risk of developing POAG. Although four of the families had ancestors identified in Northern France, the pedigrees could not be interconnected by genealogical investigation. However, haplotype analysis indicated that all the carriers had inherited the N480K mutation from the same founder. Screening of a selected set of 67 POAG patients who originated from Northern France and underwent trabeculectomy before the age of 50, detected one patient with the N480K mutation associated with the same disease haplotype already characterized in the 6 families. This group of 72 POAG patients is the largest one having a GLC1A mutation in common and provides a unique tool to investigate the factors influencing the variable expressivity of the GLC1A gene.


Assuntos
Proteínas do Olho/genética , Efeito Fundador , Ligação Genética , Glaucoma de Ângulo Aberto/genética , Glicoproteínas/genética , Adolescente , Adulto , Idade de Início , Idoso , Criança , Proteínas do Citoesqueleto , Análise Mutacional de DNA , França , Regulação da Expressão Gênica , Glaucoma de Ângulo Aberto/diagnóstico , Haplótipos , Heterozigoto , Humanos , Pessoa de Meia-Idade , Linhagem , Mutação Puntual
15.
J Med Genet ; 34(7): 546-52, 1997 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-9222961

RESUMO

The GLC1A locus for autosomal dominant juvenile and middle age onset primary open angle glaucoma (OAG) has been mapped to chromosome 1q21-q31. OAG, however, is a heterogeneous disease. We tested linkage of OAG and ocular hypertension (OHT), a major risk factor for OAG, to GLC1A in eight French families with multiple cases of juvenile and middle age onset OAG. There was strong evidence of genetic heterogeneity, four families being linked to GLC1A and two or three others being unlinked, depending on whether the complete OAG phenotype was analysed alone or jointly with OHT. Peak intraocular pressure (IOP) did not differ significantly between the two groups of families, while linkage to GLC1A conferred a highly increased risk of developing OAG and of having severe glaucomatous optic neuropathy. Testing linkage of familial OAG to GLC1A may therefore have prognostic value too.


Assuntos
Glaucoma de Ângulo Aberto/genética , Pressão Intraocular/genética , Hipertensão Ocular/genética , Nervo Óptico/patologia , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Criança , Cromossomos Humanos Par 1 , Feminino , Heterogeneidade Genética , Ligação Genética , Glaucoma de Ângulo Aberto/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Hipertensão Ocular/patologia , Linhagem , Fatores de Risco
16.
Arch. chil. oftalmol ; 54(2): 133-40, 1997. ilus, tab
Artigo em Inglês | LILACS | ID: lil-229102

RESUMO

The purpose of this study is to evaluate the middle term tonometric results of a new filtering procedure, the non penetrating deep sclerectomy with or without collagen device, in primary open-angle glaucome. This technic aims to eliminate or minimize the complications of classical trabeculectomy


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Colágeno/administração & dosagem , Glaucoma de Ângulo Aberto/cirurgia , Esclera/cirurgia , Implantes de Medicamento/uso terapêutico , Estudos Retrospectivos
17.
J Fr Ophtalmol ; 19(11): 659-66, 1996.
Artigo em Francês | MEDLINE | ID: mdl-9033887

RESUMO

PURPOSE: To evaluate the middle term tonometric results of a new filtering procedure, the non penetrating deep sclerectomy with collagen device, in primary open-angle glaucoma. This technique aims to eliminate or minimize the complications of classical trabeculectomy. MATERIAL AND METHOD: This procedure has been developed by Koslov et al. Under a limbal-base conjunctival flap and a superficial scleral flap, the ablation of a deep scleral flap takes away the external wall of Schlemm's canal, leaving only the Descemet membrane. A visible filtration across the opened Schlemm's canal and Descemet membrane is obtained. To improve the aqueous filtration, a cylindric collagen device, made from biocompatible porcine scleral tissue, known for its high water content, is fixed in the deep scleral bed with a 10/0 nylon suture. This device provides a support for the elimination route of aqueous humor and acts like a sponge, carrying the liquid by capillary action. It is sterilized by irradiation. Full guarantee against viral contamination is provided. This procedure ends in one suture (40/0 nylon) of superficial scleral flap and conjunctival closing suture. We conducted a retrospective study. Our material included 159 patients (92 males, 65 females), 2/9 eyes. The mean age was 65 years (11-91). The mean follow-up : 8 months (3-20). The types of glaucoma were: POAG: 183 eyes; juvenile POAG: 18 eyes: pigmentary glaucoma: 11 eyes; capsular glaucoma: 7 eyes, 58 eyes (40 patients) presented one or several risk factors of failure for filtering surgery. RESULTS: The mean pre-operative IOP was 24 mmHg +/- 6.60; 15.7 +/- 5.30 at the end of the follow-up (delta average IOP: 9.1 +/- 7.1). The probability success rate (IOP < or = 20 mmHg), according to the Kaplan-Meier Method, was 89% at six months, 75.6% at 16 months. With monotherapy with beta blockers, 79% at 16 months. It was better in the without risk factors group. The mean change in visual acuity was inferior to 0.1 at the end of the follow-up. Except several hyphemas, no complications of the trabeculectomy were observed. The reelevation of IOP was due to an internal obstruction (goniosynechiae or bad filtration), it was treated with Nd-Yag laser with a 2/3 of success rate. External obstruction was treated by 5FU injections into the bleb. CONCLUSION: Non penetrating deep sclerectomy with collagen device can be an excellent alternative to trabeculectomy in open and wide angles. It does not modify visual actuity. It carries less complications than trabeculectomy and the use of antimitotic agents is safer.


Assuntos
Colágeno , Glaucoma de Ângulo Aberto/cirurgia , Próteses e Implantes , Esclera/cirurgia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Materiais Biocompatíveis , Criança , Colágeno/uso terapêutico , Feminino , Cirurgia Filtrante/métodos , Humanos , Pressão Intraocular , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Tempo
20.
Rev Mal Respir ; 3(2): 73-85, 1986.
Artigo em Francês | MEDLINE | ID: mdl-3726263

RESUMO

This study has compared a daily 6-month short-course chemotherapy regimen and a daily 12-month standard duration regimen in the treatment of smear positive pulmonary tuberculosis in a rural area of Algeria where the population contains a relatively high proportion of nomads. The 6-month regimen (6M) was isoniazid and rifampicin throughout with ethambutol and pyrazinamide in addition for the first 2 months, and the 12-month regimen (12M) was isoniazid and ethambutol supplemented by streptomycin during the first month. All the 601 patients admitted had one or more sputum smears positive on examination in the local laboratory and 70% had a positive culture in the reference laboratory in Algiers. Most patients were admitted to hospital initially for one or two months where chemotherapy was fully supervised and subsequently it was self-administered. In both nomads and settled residents known to have fully sensitive strains of tubercle bacilli pretreatment the 6-month regimen was highly effective with no failures during chemotherapy and only 3% relapses after stopping chemotherapy in 126 patients compared with a combined failure rate during chemotherapy and relapse rate of 21% in the 152 patients receiving the 12-month regimen (P less than 0.001). The results in patients with isoniazid-resistant strains pretreatment were also significantly better for the 6-month than for the 12-month regimen, one of 15 and 8 of 17 patients respectively being classified as failures or relapses (P = 0.03). To assess the results which might be achieved by these regimens under programme conditions the outcome at 3 years was also assessed in all patients admitted to the study irrespective of whether the disease was confirmed in the reference laboratory or at independent assessment and whether or not the allocated chemotherapy was modified or further courses of chemotherapy were given. At 3 years, 82% of the 6M and 80% of the 299 12M patients had achieved a favourable status and only one 6M patient and 4 12M patients were still known to have active disease with a positive culture. A further 23 6M and 22 12M patients were known to have died, 11 in each series probably or definitely from tuberculosis. The remaining 28 6M and 34 12M patients were lost from follow-up, but 24 and 22 respectively had completed their allocated chemotherapy before defaulting. It was estimated that, overall, 272 (94%) of the 6M and 263 (91%) of the 12M patients had a favourable status at 3 years.(ABSTRACT TRUNCATED AT 400 WORDS)


Assuntos
Antituberculosos/administração & dosagem , Tuberculose Pulmonar/tratamento farmacológico , Adulto , Argélia , Esquema de Medicação , Resistência Microbiana a Medicamentos , Etambutol/uso terapêutico , Feminino , Seguimentos , Humanos , Isoniazida/uso terapêutico , Masculino , Pirazinamida/uso terapêutico , Recidiva , Rifampina/uso terapêutico , Estreptomicina/uso terapêutico , Migrantes , Tuberculose Pulmonar/diagnóstico , Tuberculose Pulmonar/mortalidade
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