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1.
Mol Syndromol ; 14(2): 143-151, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37064331

RESUMO

Introduction: PACS1-related neurodevelopmental disorder (PACS1-related NDD) is caused by pathogenic variants in the PACS1 gene and is characterized by a distinctive facial appearance, intellectual disability, speech delay, seizures, feeding difficulties, cryptorchidism, hernias, and structural anomalies of the brain, heart, eye, and kidney. There is a marked facial resemblance and a common multisystem affectation with patients carrying pathogenic variants in the WDR37 and PACS2 genes, although they vary in terms of severity and eye involvement. Case Presentation: Here, we describe 4 individuals with PACS1-related NDD from Mexico, all of them carrying a de novo PACS1 variant c.607C>T; p.(Arg203Trp) identified by exome sequencing. In addition to eye colobomata, this report identified corneal leukoma, cataracts, and tortuosity of retinal vessels as ophthalmic manifestations not previously reported in patients with PACS1-related NDD. Discussion: We reviewed the ocular phenotypes reported in 74 individuals with PACS1-related NDD and the overlaps with WDR37- and PACS2-related syndromes. We found that the 3 syndromes have in common the presence of colobomata, ptosis, nystagmus, strabismus, and refractive errors, whereas microphthalmia, microcornea, and Peters anomaly are found only among individuals with PACS1-related NDD and WDR37 syndrome, being more severe in the latter. This supports the previous statement that the so-called WDR37-PACS1-PACS2 axis might have an important role in ocular development and also that the specific ocular findings could be useful in the clinical differentiation between these related syndromes.

2.
Eur J Med Genet ; 65(12): 104653, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36330903

RESUMO

Adams-Oliver syndrome (AOS) is diagnosed in presence of aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). The autosomal recessive (AR) DOCK6-related form of AOS is most often associated with a severe phenotype including also central nervous system and ocular abnormalities. We report a sister and brother with different expression of the phenotype. Both were compound heterozygous pathogenic variants in the DOCK6 gene, including a heterozygous c.5939+2T > C intronic variant that was maternally inherited, and a heterozygous deletion of exons 10 to 21 that was paternally inherited. The sister had microcephaly, periventricular calcifications, minor retinal vasculopathy, and mild impaired neurodevelopment, but only very subtle limb abnormalities and no ACC. Her brother showed a classical DOCK6-related AOS phenotype, including a severe bilateral peripheral ischemic retinopathy. From a review of 22 molecularly confirmed cases with DOCK6-related AOS with ophthalmic examination, we found that 16 of them had retinal vascular pathology (72.7%), confirming as the major ocular anomaly. Documented intrafamilial variability in our family and the evidence revised from previous reports, confirm that AR DOCK6-related AOS expressivity can produce a "milder" phenotype without ACC or TTLD, which could be underdiagnosed in simplex cases because it is difficult to recognize out of a familial context. Therefore, in order to know its real magnitude is required the future inclusion of DOCK6 gene in NGS panels directed to the study of simplex cases of patients with microcephaly, periventricular calcifications, retinal vasculopathy, and/or cardiovascular defects.


Assuntos
Displasia Ectodérmica , Deformidades Congênitas dos Membros , Microcefalia , Feminino , Humanos , Masculino , Variação Biológica da População , Displasia Ectodérmica/genética , Displasia Ectodérmica/diagnóstico , Fatores de Troca do Nucleotídeo Guanina/genética , Deformidades Congênitas dos Membros/genética , Deformidades Congênitas dos Membros/diagnóstico , Microcefalia/genética , Couro Cabeludo
3.
Ophthalmic Epidemiol ; 28(3): 213-219, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-32838611

RESUMO

PURPOSE: Identifying at-risk infants for retinopathy of prematurity (ROP) is complex in countries with emerging economies as infants that lack conventional risk factors, such as low birth weight (BW) and young gestational age (GA), still go on to develop severe ROP. Potential biomarkers, like serum insulin-like growth factor 1 (IGF-1) and slow postnatal weight gain, have been identified as good predictors for ROP in developed countries. We sought to determine the relationship between IGF-1 levels and ROP in two Latin American countries where the burden of disease is still significant. METHODS: Prospective cohort study of infants in Guadalajara, Mexico and La Plata, Argentina. Filter-paper bloodspot IGF-1 assays were performed weekly from birth until hospital discharge or 40 weeks' postmenstrual age (PMA). RESULTS: 112 infants were studied with a median BW of 1412 g (range 620 g-2390 g) and a median GA of 33 weeks (range 25-37). There was no significant difference in IGF-1 between infants who developed ROP and those who did not. CONCLUSION: Low IGF-1 was not associated with ROP in these infants. The lack of an association between ROP and IGF-1 in Latin America supports the observation that growth-based predictive models do not perform as well in this setting where more mature babies still develop severe ROP.


Assuntos
Fator de Crescimento Insulin-Like I , Retinopatia da Prematuridade , Peso ao Nascer , Idade Gestacional , Humanos , Lactente , Recém-Nascido de Baixo Peso , Recém-Nascido , Recém-Nascido Prematuro , América Latina/epidemiologia , Estudos Prospectivos , Retinopatia da Prematuridade/diagnóstico , Retinopatia da Prematuridade/epidemiologia , Fatores de Risco
4.
J Ophthalmol ; 2020: 5864565, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32587762

RESUMO

The purpose of this article is to describe how fundus images are obtained using a low-cost device: the "Visual Ear Wax Cleaner Tool" portable endoscope (Soonhua Inc., China) connected to a smartphone, after installation of free applications ("Inskam" and "CameraFI") using the smartphone screen as a monitor and after medication mydriasis, local anesthesia, and blepharostat placement. With this endoscope, video recording and fundus imaging are easily performed, for the case of patients at the risk of developing retinopathy of prematurity (ROP), facilitating timely screening in order to start treatment in patients who require it. This fundus imaging technique shares certain similarities with the RetCam® (Clarity, Pleasaton California) system, which performs real-time fundus imaging providing the ability to record and document findings and capture images from the video footage, with high quality and definition, although with a smaller angle of vision. The capture of images using a smartphone allows storing and sharing the images. These are devices which are generally accessible and portable and which use simplified energy sources, requiring very simple training. The low-cost, easy-to-learn technique and quick sharing of images through communication networks make this a tool to be considered for the practice of telemedicine.

5.
Congenit Anom (Kyoto) ; 59(5): 174-178, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30225942

RESUMO

Here, we report a patient with ring chromosome 6 [r(6)], associated with anterior segment dysgenesis (ASD) and other anomalies. The phenotype was due to a 1880 kb microdeletion at 6p25.3 identified by whole-genome array analysis, and was mainly attributable to a FOXC1 haploinsufficiency. Currently 37 patients with r(6) have been reported. We found that facial dysmorphism, ASD, heart anomalies, brain anomalies, and hearing loss are constant features only in severe cases of r(6), mainly related to hemizygosity of FOXC1. Thus, overlaps with other FOXC1 related phenotypes, such as the 6p25 deletion syndrome, Axenfeld-Rieger syndrome type 3, and ASD type 3. Contrarily, those patients whose r(6) does not disrupt FOXC1, have mild or moderate phenotypes and do not exhibit ASD.


Assuntos
Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/genética , Fatores de Transcrição Forkhead/genética , Deleção de Genes , Fenótipo , Bandeamento Cromossômico , Deleção Cromossômica , Cromossomos Humanos Par 6/genética , Feminino , Humanos , Recém-Nascido , Cariótipo , Masculino , Cromossomos em Anel , Adulto Jovem
6.
Ophthalmic Epidemiol ; 25(5-6): 412-418, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30081687

RESUMO

PURPOSE: To estimate the prevalence of blindness, visual impairment, diabetes mellitus, and diabetic retinopathy in patients aged 50 years and older in the State of Nuevo León, Mexico. METHODS: Ninety-one clusters of 60 people aged 50+ were selected randomly and a rapid assessment of avoidable blindness (RAAB) was conducted. Participants had their visual acuity and cause of visual impairment assessed, underwent a random glucose test and fundoscopy under mydriasis if they had diabetes. The diabetic retinopathy (DR) degree was classified according to the Scottish diabetic retinopathy grading scheme. RESULTS: From the sample 5,055 (92.6%) people were examined. The blindness prevalence was 1.7% (95% Confidence Interval: 1.3-2.1%). Cataract (32.6%), DR (29.1%) and glaucoma (16.3%) were the leading causes of blindness. The prevalence of severe, moderate, and early visual impairment was 1.0%, 5.1%, and 7.7%, respectively. Among respondents, 31% had diabetes and 8.1% of them was not diagnosed prior to the study. Of all participants with diabetes, 50% had glucose levels of 200 mg/dl or higher and 15.7% had sight-threatening diabetic retinopathy. CONCLUSIONS: Besides strengthening of cataract intervention activities, more ophthalmic services for diabetic retinopathy and glaucoma control are needed in Nuevo León to provide timely intervention to prevent blindness.


Assuntos
Cegueira/epidemiologia , Retinopatia Diabética/epidemiologia , Inquéritos Epidemiológicos , Medição de Risco/métodos , Transtornos da Visão/epidemiologia , Acuidade Visual , Cegueira/fisiopatologia , Cegueira/prevenção & controle , Retinopatia Diabética/complicações , Retinopatia Diabética/fisiopatologia , Feminino , Humanos , Masculino , México/epidemiologia , Pessoa de Meia-Idade , Prevalência , Estudos Retrospectivos , Fatores de Risco , Transtornos da Visão/complicações , Transtornos da Visão/fisiopatologia
7.
Pediatr Res ; 81(3): 473-479, 2017 03.
Artigo em Inglês | MEDLINE | ID: mdl-27842054

RESUMO

BACKGROUND: Retinopathy of prematurity (ROP) is a potentially blinding, retinal neovascular disease. Systemic prolactin accesses the retina to regulate blood vessels. Prolactin is proangiogenic and can be cleaved to antiangiogenic vasoinhibins. We investigated whether circulating prolactin and vasoinhibins associate with incidence and progression of ROP. METHODS: A prospective, longitudinal, case-control study covering postnatal weeks 1 to 9 measured serum prolactin, vasoinhibins, and vascular endothelial growth factor (VEGF) weekly in 90 premature infants diagnosed as ROP or control. RESULTS: Prolactin levels were higher in ROP than in control patients before (106.2 ± 11.3 (SEM) vs. 64.7 ± 4.9 ng/ml, postnatal week 1) and during (120.6 ± 10 vs. 84.7 ± 7.5ng/ml, postnatal week 5) ROP diagnosis. Prolactin, but not gestational age, birth weight, Apgar score, sepsis, or ventilation time, correlated with ROP. The relative risk (RR) of developing ROP increased if Prolactin (PRL) levels were higher than thresholds of 80 ng/ml (RR = 1.55, 95% CI: 1.06-2.28), 100 ng/ml (RR = 1.63, 95% CI: 1.14-2.34), or 120 ng/ml (RR = 1.95, 95% CI: 1.41-2.68). Vasoinhibin levels were 39.7% higher (95% CI: 4.5-77.5) in the circulation of ROP than in control patients at postnatal week 1 and similar thereafter, whereas VEGF serum levels were always similar. CONCLUSION: High serum prolactin and vasoinhibin levels predict and may impact ROP progression.


Assuntos
Proteínas de Ciclo Celular/sangue , Prolactina/sangue , Retinopatia da Prematuridade/sangue , Inibidores da Angiogênese/uso terapêutico , Estudos de Casos e Controles , Progressão da Doença , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Masculino , Estudos Prospectivos , Retinopatia da Prematuridade/epidemiologia , Retinopatia da Prematuridade/patologia , Fator A de Crescimento do Endotélio Vascular/sangue
8.
Neonatology ; 110(2): 135-40, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27088589

RESUMO

BACKGROUND: Retinopathy of prematurity (ROP), a potentially blinding disease, affects preterm infants. High levels of oxygen saturation are a well-known risk factor for ROP. OBJECTIVES: To assess the frequency of ROP type 1 needing treatment after improved oxygen monitoring (2011) in a Mexican preterm population selected for WINROP analyses and to retrospectively revalidate WINROP, an online surveillance system identifying infants at risk of developing ROP type 1. METHODS: Preterm infants born with birth weight (BW) <1,750 g and/or at gestational age (GA) ≤34 weeks, screened for ROP in 2012-2014 at the Hospital Civil de Guadalajara, Mexico were included (n = 151). Eighty-five infants with GA <32 weeks qualified for WINROP analyses. GA, BW, maximal ROP stage, ROP treatment and weekly weights were recorded. The results in the present study were compared to those of a previous WINROP study in the same hospital (2005-2010; n = 352). RESULTS: In the present WINROP cohort, 11.8% of the infants born at GA <32 weeks received treatment compared to 51.0% of the infants in the previous WINROP cohort. One infant (3%) born at GA ≥32 weeks received treatment during the present study period compared to 35.6% during the previous period. WINROP displayed 80.0% sensitivity in infants born at GA <32 weeks in the present study compared to 84.7% in the previous study. CONCLUSIONS: Uncontrolled oxygen supplementation is the major risk factor for severe ROP in infants born at GA ≥32 weeks. After improved oxygen monitoring, the frequency of ROP treatment was dramatically reduced at the Hospital Civil de Guadalajara, Mexico.


Assuntos
Lactente Extremamente Prematuro , Recém-Nascido de muito Baixo Peso , Oxigênio/efeitos adversos , Retinopatia da Prematuridade/epidemiologia , Retinopatia da Prematuridade/prevenção & controle , Algoritmos , Idade Gestacional , Humanos , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Masculino , México/epidemiologia , Triagem Neonatal , Oxigênio/uso terapêutico , Estudos Retrospectivos , Fatores de Risco
10.
Rev Panam Salud Publica ; 37(1): 7-12, 2015 Jan.
Artigo em Espanhol | MEDLINE | ID: mdl-25791183

RESUMO

OBJECTIVE: Determine the prevalence of blindness and avoidable visual impairment in Argentina, its causes, the coverage of cataract surgery, and the barriers that hinder access to these services. METHODS: Cross-sectional population study conducted between May and November 2013 using the standard methodology for rapid assessment of avoidable blindness (RAAB), with a random cluster sampling of 50 people aged 50 years or more, -representative of the entire country. Participants' visual acuity (VA) was measured and the lens and posterior pole were examined by direct ophthalmoscopy. An assessment was made of the causes of having VA < 20/60, the coverage and quality of cataract surgery, and the barriers to accessing treatment. RESULTS: 3 770 people were assessed (92.0% of the projected number). The prevalence of blindness was 0.7% (confidence interval of 95%: 0.4-1.0%). Unoperated cataract was the main cause of blindness and severe visual impairment (44.0% and 71.1%, respectively), while the main cause of moderate visual impairment was uncorrected refractive errors (77.8%). Coverage of cataract surgery was of 97.1%, and 82.0% of operated eyes achieved VA ≥ 20/60. The main barriers to receiving this treatment were fear of the surgical procedure or of a poor result (34.9%), the cost (30.2%), and not having access to the treatment (16.3%). CONCLUSIONS: There is a low prevalence of blindness in the studied population and cataract is the main cause of blindness and severe visual impairment. Efforts should continue to extend coverage of cataract surgery, enhance preoperative evaluation, improve calculations of the intraocular lenses that patients need, and correct post-operative refractive errors with greater precision.


Assuntos
Cegueira/epidemiologia , Transtornos da Visão/epidemiologia , Idoso , Idoso de 80 Anos ou mais , Argentina/epidemiologia , Catarata/epidemiologia , Extração de Catarata/estatística & dados numéricos , Estudos Transversais , Retinopatia Diabética/epidemiologia , Feminino , Inquéritos Epidemiológicos , Humanos , Masculino , Pessoa de Meia-Idade , Erros de Refração/epidemiologia , Estudos de Amostragem , Transtornos da Visão/prevenção & controle
11.
Rev. panam. salud pública ; 37(1): 7-12, Jan. 2015. tab
Artigo em Espanhol | LILACS | ID: lil-742272

RESUMO

Objetivo. Determinar la prevalencia de ceguera y deficiencia visual evitable en Argentina, sus causas, la cobertura de cirugía de catarata y las barreras que impiden acceder a esos servicios. Métodos. Estudio poblacional transversal realizado entre mayo y noviembre de 2013 mediante la metodología estándar de evaluación rápida de ceguera evitable. Se realizó un muestreo aleatorio por conglomerados de 50 personas de 50 años de edad o más, representativo de todo el país. A los participantes se les midió la agudeza visual (AV) y se examinó el cristalino y el polo posterior por oftalmoscopía directa. Se evaluaron las causas de tener AV < 20/60, la cobertura de cirugía de catarata y su calidad, y las barreras para acceder a ese tratamiento. Resultados. Se evaluaron 3 770 personas (92,0% de lo previsto). La prevalencia de ceguera fue de 0,7% (intervalo de confianza de 95%: 0,4-1,0%). La catarata no operada fue la principal causa de ceguera y deficiencia visual severa (44,0% y 71,1%, respectivamente), mientras que de la deficiencia visual moderada fueron los errores de refracción no corregidos (77,8%). La cobertura de cirugía de catarata fue de 97,1%, y 82,0% de los ojos operados lograron una AV ≥ 20/60. Las principales barreras para someterse a este tratamiento fueron el temor a la cirugía o a un mal resultado (34,9%), el costo (30,2%) y no tener acceso al tratamiento (16,3%). Conclusiones. La prevalencia de ceguera en la población estudiada es baja y la catarata es la principal causa de ceguera y deficiencia visual severa. Se debe continuar aumentando la cobertura de cirugía de catarata, perfeccionar la evaluación preoperatoria, hacer un cálculo más adecuado del lente intraocular que necesita el paciente y corregir con mayor precisión los defectos refractivos postoperatorios.


Objective. Determine the prevalence of blindness and avoidable visual impairment in Argentina, its causes, the coverage of cataract surgery, and the barriers that hinder access to these services. Methods. Cross-sectional population study conducted between May and November 2013 using the standard methodology for rapid assessment of avoidable blindness (RAAB), with a random cluster sampling of 50 people aged 50 years or more, ­representative of the entire country. Participants' visual acuity (VA) was measured and the lens and posterior pole were examined by direct ophthalmoscopy. An assessment was made of the causes of having VA < 20/60, the coverage and quality of cataract surgery, and the barriers to accessing treatment. Results. 3 770 people were assessed (92.0% of the projected number). The prevalence of blindness was 0.7% (confidence interval of 95%: 0.4-1.0%). Unoperated cataract was the main cause of blindness and severe visual impairment (44.0% and 71.1%, respectively), while the main cause of moderate visual impairment was uncorrected refractive errors (77.8%). Coverage of cataract surgery was of 97.1%, and 82.0% of operated eyes achieved VA ≥ 20/60. The main barriers to receiving this treatment were fear of the surgical procedure or of a poor result (34.9%), the cost (30.2%), and not having access to the treatment (16.3%). Conclusions. There is a low prevalence of blindness in the studied population and cataract is the main cause of blindness and severe visual impairment. Efforts should continue to extend coverage of cataract surgery, enhance preoperative evaluation, improve calculations of the intraocular lenses that patients need, and correct post­operative refractive errors with greater precision.


Assuntos
Humanos , Criança , Atividades Cotidianas , Crianças com Deficiência/educação , Crianças com Deficiência/reabilitação , Educação Inclusiva , Prática Clínica Baseada em Evidências , Terapia Ocupacional , Avaliação de Resultados em Cuidados de Saúde , Relações Pais-Filho
13.
Bol. méd. Hosp. Infant. Méx ; 70(5): 344-350, sep.-oct. 2013. tab
Artigo em Espanhol | LILACS | ID: lil-702410

RESUMO

El aumento en la sobrevida de los recién nacidos prematuros, las características del cuidado neonatal y la escasez de programas para la prevención, detección y tratamiento de la retinopatía del prematuro provocan que esta enfermedad sea la principal causa de ceguera infantil prevenible en México. El advenimiento de agentes antiangiogénicos de uso oncológico, y su uso -no autorizado, aunque con buenos resultados- en el tratamiento de enfermedades vaso proliferativas en la retina del paciente adulto, así como la presencia de reportes anecdóticos en la literatura y series de casos con serias fallas metodológicas han sugerido su utilización en el tratamiento de la retinopatía del prematuro. Desafortunadamente, estos agentes, utilizados indiscriminadamente, presentan absorción sistémica y causan efectos secundarios en el organismo del paciente prematuro. Además, no existen estudios de seguimiento a largo plazo que garanticen la seguridad de su uso en esta población. El presente artículo describe la situación en nuestro país y advierte sobre los riesgos de estos medicamentos en la población de pacientes prematuros.


The increase in survival rates among preterm infants, characteristics of neonatal care for such infants and a lack of suitable programs for preventing, detecting and treating retinopathy of prematurity (ROP) are factors that have made this disease the main cause of preventable blindness among children in Mexico. The advent of antiangiogenic agents in cancer treatment and their off-label use with favorable results in the treatment of proliferative vessel disease of the retina among adult patients, as well as anecdotal reports in the literature and a series of cases showing serious methodological flaws, have prompted their use in the treatment of retinopathy of prematurity. Unfortunately, these agents used indiscriminately in our country have a systemic absorption and secondary effects on the preterm patient's body. There are no long-term monitoring studies that guarantee their safe use in this segment of the population. This article describes the situation in our country and warns of the risks posed by the use of this type of drug on the preterm infant population.

14.
Arch Ophthalmol ; 130(6): 720-3, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22801831

RESUMO

OBJECTIVE: To retrospectively validate the WINROP (weight, insulin-like growth factor I, neonatal, retinopathy of prematurity [ROP]) algorithm in identification of type 1 ROP in a Mexican population of preterm infants. METHODS: In infants admitted to the neonatal intensive care unit at Hospital Civil de Guadalajara from 2005 to 2010, weight measurements had been recorded once weekly for 192 very preterm infants (gestational age [GA] <32 weeks) and for 160 moderately preterm infants (GA ≥32 weeks). Repeated eye examinations had been performed and maximal ROP stage had been recorded. Data are part of a case-control database for severe ROP risk factors. RESULTS: Type 1 ROP was found in 51.0% of very preterm and 35.6% of moderately preterm infants. The WINROP algorithm correctly identified type 1 ROP in 84.7% of very preterm infants but in only 5.3% of moderately preterm infants. For infants with GA less than 32 weeks, the specificity was 26.6%, and for those with GA 32 weeks or more, it was 88.3%. CONCLUSIONS: In this Mexican population of preterm infants, WINROP detected type 1 ROP early in 84.7% of very preterm infants and correctly identified 26.6% of infants who did not develop type 1 ROP. Uncertainties in dating of pregnancies and differences in postnatal conditions may be factors explaining the different outcomes of WINROP in this population.


Assuntos
Algoritmos , Peso ao Nascer/fisiologia , Recém-Nascido Prematuro , Fator de Crescimento Insulin-Like I/metabolismo , Triagem Neonatal/métodos , Retinopatia da Prematuridade/diagnóstico , Países em Desenvolvimento , Idade Gestacional , Humanos , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , México , Retinopatia da Prematuridade/sangue , Retinopatia da Prematuridade/classificação , Estudos Retrospectivos
15.
Ophthalmic Epidemiol ; 18(6): 264-8, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22053835

RESUMO

BACKGROUND: Retinopathy of Prematurity (ROP) is the main cause of preventable blindness in premature babies. Currently, there is a shortage of trained ophthalmologists, which has resulted in an alarming increase in cases of vision loss and related complications. This study's aim was to determine the utility of examinations conducted by non-ophthalmologist physicians to assess posterior pole vessel abnormalities in eyes at risk for ROP. METHOD: Non-ophthalmologist physicians (pediatrician and neonatologist) were trained to use an indirect ophthalmoscope to view the posterior pole of babies at risk for ROP. Examinations were conducted on both eyes of premature infants born before 35 weeks gestational age (GA) starting at the third week after birth and weekly thereafter. The presence of Plus disease was identified by the non-ophthalmologist and results compared to the clinical examination by a pediatric ophthalmologist experienced in ROP detection and treatment. Chi-square was used for proportions and the Mann Whitney U test for medians. Fagan's nomogram was determined for diagnostic usability. The Kappa index was used to rate inter-observer agreement. RESULTS: Results of 228 examinations performed on 150 premature infants were analyzed to determine the correlation of the non-ophthalmologist findings and the eye examination. For any vascular change in posterior pole diagnostic, findings were 87% and 87% accuracy for pediatrician and neonatologist, 82% and 83% sensitivity, 90% and 90% specificity respectively. There was no significant difference found in the detection of Plus disease for the examinations performed by the ophthalmologist compared to those performed by the non-ophthalmologist (P < 0.05). CONCLUSIONS: After training in the use of an indirect ophthalmoscope, non-ophthalmologist physicians can reliably detect posterior pole retinal vessel changes for ROP diagnosis.


Assuntos
Triagem Neonatal/métodos , Retinopatia da Prematuridade/diagnóstico , Distribuição de Qui-Quadrado , Humanos , Recém-Nascido , Recém-Nascido Prematuro , México , Neonatologia/métodos , Oftalmoscopia/métodos , Pediatria/métodos , Estatísticas não Paramétricas
16.
Eur J Med Genet ; 54(1): 76-81, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-20932945

RESUMO

The Yunis-Varón syndrome (YVS) represents a rare autosomal recessive syndrome of easy recognition characterized by cleidocraneal dysplasia, absence of thumbs and halluces, distal aphalangia, ectodermal anomalies, and poor outcome. Here, we report two sisters with YVS who also had papillo-macular atrophic chorioretinopathy with "salt-and-pepper" appearance that could not be attributed to environmental or metabolic causes. Our best hypothesis is that the ocular findings in our two patients are part of the phenotypic manifestations of YVS. We suggest that an extensive ophthalmologic examination should be carried out in all children with YVS in order to define the frequency and nature of the ocular findings in these patients.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades do Olho/diagnóstico , Anormalidades Múltiplas/genética , Displasia Cleidocraniana/diagnóstico , Displasia Ectodérmica/diagnóstico , Evolução Fatal , Feminino , Genes Recessivos , Humanos , Lactente , Cariotipagem , Deformidades Congênitas dos Membros/diagnóstico , Micrognatismo/diagnóstico , Irmãos
18.
Salud Publica Mex ; 45(1): 54-7, 2003.
Artigo em Espanhol | MEDLINE | ID: mdl-12649962

RESUMO

OBJECTIVE: To evaluate knowledge of and disposition towards organ and tissue donation for transplantation among the adult population of metropolitan Guadalajara, Jalisco, Mexico. MATERIAL AND METHODS: A survey was conducted by personal interview with street-recruited persons over 18 years of age using a 29-item questionnaire. Metropolitan Guadalajara was divided into four municipalities and a proportional number of interviews was assigned to each one based on number of inhabitants, socio-economic stratum, age and gender. RESULTS: Four hundred individuals were interviewed. Approximately 80% knew about organ donation and 65% knew that it was legal; however, only 24% had discussed the topic with their relatives. Seventy-one percent did not know how to donate organs and only 25% knew about organ donor cards. On the other hand, 66% were willing to donate, 16.5% would not donate and 17% were undecided. Bodily mutilation was the main reason (40%) given to not donate. 89% would authorize organ donation from a deceased relative, assuming the relative had previously expressed the desire to donate; on the contrary, only 29% would give such an authorization without their relative's prior consent. Finally, 65% considered the driver's license an adequate mean to express their desire to donate and 50% considered the information the mass media disseminated on the subject to be insufficient. CONCLUSIONS: The majority of the metropolitan Guadalajara population knew about organ donation and would be willing to donate their organs. However, a high percentage did not know how to donate and considered the information disseminated on the subject insufficient. An on-going mass media campaign could resolve this matter and hopefully increase organ donation among this population.


Assuntos
Transplante de Órgãos/estatística & dados numéricos , Doadores de Tecidos/estatística & dados numéricos , Adolescente , Adulto , Feminino , Humanos , Masculino , México , Pessoa de Meia-Idade , Inquéritos e Questionários , População Urbana
19.
Salud pública Méx ; 45(1): 54-57, ene.-feb. 2003. tab
Artigo em Espanhol | LILACS | ID: lil-333565

RESUMO

OBJETIVO: Evaluar el conocimiento y la disposición de la donación de órganos y tejidos con fines de trasplante entre la población adulta del área metropolitana de Guadalajara, Jalisco, México. MATERIAL Y MÉTODOS: Se realizó una encuesta aplicando un cuestionario de 29 reactivos a personas mayores de 18 años de edad, mediante entrevista directa en la vía pública. La zona metropolitana se dividió en cuatro municipios, asignándose a cada uno de éstos el número de encuestas en proporción al número de habitantes, estrato socioeconómico, edad y género. Se calcularon frecuencias y ji2 para diferencias de proporciones. RESULTADOS: Se encuestaron 400 individuos. El 80.4 por ciento conocía acerca de la donación de órganos y 65 por ciento sabía que está permitido por la ley; sin embargo, solamente 24 por ciento había comentado el tema en familia. El 71 por ciento de los encuestados desconocía cómo donar sus órganos y sólo 25 por ciento sabía de la existencia de la tarjeta de donación. Por otra parte, 66 por ciento estarían dispuestos a donarlos, 16.5 por ciento no lo harían y 17 por ciento estaban indecisos. La mutilación corporal fue la razón principal (40 por ciento) para no donar. El 89 por ciento estarían dispuestos a autorizar la extracción de órganos de un familiar, siempre que éste hubiera manifestado su deseo en vida; de lo contrario, sólo 29 por ciento procederían con la autorización. Finalmente, 65 por ciento consideró la licencia de conducir como un medio adecuado de expresar el deseo de donar y 50 por ciento considera insuficiente la información que sobre el tema se ha difundido por los medios de comunicación. CONCLUSIONES: La mayoría de la población de la zona metropolitana de la ciudad de Guadalajara tiene conocimiento sobre la donación de órganos y estaría dispuesta a donarlos. Sin embargo, un alto porcentaje desconoce el cómo hacerlo y considera insuficiente la información difundida sobre el tema. Una campaña permanente a través de los medios de comunicación masiva podría solucionar lo anterior e incrementaría la donación de órganos en esta población


Assuntos
Adolescente , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transplante de Órgãos/estatística & dados numéricos , Doadores de Tecidos/estatística & dados numéricos , México , Inquéritos e Questionários , População Urbana
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