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ABSTRACT Twin reversed arterial perfusion (TRAP) sequence is a rare complication of monochorionic twinning whereby a donor twin perfuses an acardiac twin via aberrant vascular anastomoses. The resulting paradoxical retrograde blood flow supplying the acardiac twin is oxygen-poor, leading to some of the most severe malformations encountered in humans. Though the first descriptions of acardiac twins date back to at least the 16th century, the pathophysiologic processes which underpin the development of TRAP sequence are still being elucidated. Theories on the pathogenesis of TRAP sequence include deficiencies intrinsic to the embryo and primary abnormalities of the placental vasculature. Autopsy studies continue to provide clues to the underlying pathogenesis of TRAP sequence, and the characterization of the spectrum of manifestations that can be observed in acardiac twins. Herein, we present the clinical, autopsy, and molecular findings in a unique case of TRAP sequence. Novel findings include a primitive cloaca-like structure and chromosomal aberrations involving 6q11.1 and 15q25.1.
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As a highly prevalent global condition, myopia significantly impacts the ocular health of young individuals in China. Orthokeratology lens, as a rigid corneal contact lens, has demonstrated effective control over the progression of myopia; however, its mechanism of action remains incompletely elucidated. As one of the factors influencing visual acuity, higher-order aberrations will undergo marked changes after orthokeratology, with particular emphasis on the alterations in spherical aberrations and coma. The changes in corneal morphology induced by orthokeratology lead to significant positive increase in both spherical aberration and coma. Furthermore, the elevation of spherical aberration and coma demonstrates a negative correlation with the rate of axial length growth following orthokeratology. The interplay among spherical aberration, coma, defocus, accommodation, astigmatism, and pseudo-accommodation may constitute the underlying mechanism governing the control of myopia through orthokeratology.
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Objetivo: Caracterizar las aberraciones corneales de bajo orden en pacientes con ametropías miópicas. Métodos: Se realizó un estudio descriptivo, observacional y transversal, con una muestra de 104 ojos de 104 pacientes adultos con ametropías miópicas y un grupo control de 104 ojos de 104 voluntarios emétropes, que asistieron a consulta de Cirugía Refractiva del Instituto Cubano de Oftalmología. Se definieron las variables demográficas, clínicas y para la cuantificación de las aberraciones corneales la elevación-depresión y el valor cuadrático medio, aportadas mediante el mapa aberrométrico del Pentacam HR. Resultados: Hubo un predominio del sexo femenino, el rango de edad estuvo comprendido entre 18 y 39 años en ambos grupos. La mediana del equivalente esférico de los pacientes de ametropías miópicas fue -3,25 dioptrías, con agudeza visual sin corrección de 0,10, esfera de -2,63 D y cilindro de -1,00 D, 91 ojos (87,50 por ciento) tenían astigmatismo miópico compuesto. Los valores de elevación-depresión y el valor cuadrático medio de bajo orden fueron mayores en los pacientes con ametropías miópicas que los emétropes (p< 0,001). El astigmatismo vertical, desenfoque y el astigmatismo horizontal no presentaron diferencia estadísticamente significativa entre ambos grupos. Conclusiones: La miopía con o sin astigmatismo se debe estudiar y tratar como una aberración de bajo orden. Los valores de elevación-depresión y cuadrático medio son superiores en los ojos con ametropías miópicas respecto a los emétropes(AU)
Objective: To characterize low-order corneal aberrations in patients with myopic ametropia. Methods: A descriptive, observational and cross-sectional study was carried out with a sample of 104 eyes of 104 adult patients with myopic ametropia and a control group of 104 eyes of 104 emmetropic volunteers, who attended the Refractive Surgery Clinic of the Cuban Institute of Ophthalmology. Demographic and clinical variables were defined, and for the quantification of corneal aberrations, elevation-depression and average square value, provided by means of the Pentacam HR aberrometric map. Results: There was a predominance of female sex, the age range was between 18 and 39 years in both groups. The median spherical equivalent of myopic ametropia patients was -3.25 diopters, with uncorrected visual acuity of 0.10, sphere of -2.63 D and cylinder of -1.00 D, 91 eyes (87.50 percent) had compound myopic astigmatism. Elevation-depression values and low-order root average square value were higher in patients with myopic ametropes than emmetropes (p< 0.001). Vertical astigmatism, defocus and horizontal astigmatism showed no statistically significant difference between the two groups. Conclusions: Myopia with or without astigmatism should be studied and treated as a low-order aberration. The elevation-depression and average square values are higher in eyes with myopic ametropia than in emmetropic eyes(AU)
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Humans , Female , Adult , Refractive Errors/etiology , Epidemiology, Descriptive , Observational Studies as TopicABSTRACT
Objetivo: Determinar las aberraciones corneales en pacientes con indicación de cirugía refractiva con láser de excímeros. Métodos: Se realizó un estudio retrospectivo, transversal, descriptivo, con 161 ojos de 81 pacientes adultos, de ambos sexos con indicación de cirugía con láser de excímeros para la corrección de su defecto refractivo. Se definieron como variables edad, sexo, desenfoque, astigmatismo, coma, trefoil y aberración esférica, las que se determinaron por el estudio topográfico de rutina con el topógrafo KeratronTM Scout, Optikon. Resultados: Se obtuvieron los siguientes valores promedios: desenfoque -4,17 ± 0,29 D (-16,15 a 8,5 D) y absoluto 4,94 ± 0,199 (10 a 16,5 D), astigmatismo -1,56 ± 0,09 D (-9,44 a -0,09 D), coma 0,25 ± 0,016 (0,01 a 1,5 D), trefoil 0,204 ± 0,016 (0,01 a 1,18 D) y aberración esférica 0,316 ± 0,018 D (0,0 a 1,27D). En el 75 % de los casos los valores absolutos de desenfoque fueron inferiores a 6,56, de astigmatismo inferior a 0,33 D, de coma menor que 0,33, trefoil inferior a 0,25 y aberraciones esféricas menores que 0,32 D. Conclusiones: Los valores promedio de las aberraciones corneales desenfoque, astigmatismo, coma, trefoil y aberración esférica se encuentran en el rango de los valores reportados en la literatura científica y la distribución de los valores de las aberraciones corneales presentan desplazamiento de la mayoría de los casos hacia los valores más bajo del rango de determinación.
Objective: To determine corneal aberrations in patients indicated for excimer laser refractive surgery. Methods: A retrospective, cross-sectional and descriptive study was carried out with 161 eyes of 81 adult patients of both sexes with indication of excimer laser surgery for the correction of their refractive defect. Age, sex, defocus, astigmatism, coma, trefoil and spherical aberration were defined as variables, determined by routine topographic study with the KeratronTM Scout topographer, Optikon. Results: The following average values were obtained: defocus of -4.17 ± 0.29 D (-16.15 to 8.5 D) and absolute of 4.94 ± 0.199 (10 to 16.5 D), astigmatism of -1.56 ± 0.09 D (-9.44 to -0.09 D), coma of 0.25 ± 0.016 (0.01 to 1.5 D), trefoil of 0.204 ± 0.016 (0.01 to 1.18 D) and spherical aberration of 0.316 ± 0.018 D (0.0 to 1.27D). In 75 % of the cases, the absolute values for defocus were lower than 6.56; for astigmatism, lower than 0.33 D; for coma, lower than 0.33; for trefoil, lower than 0.25; and for spherical aberrations, lower than 0.32 D. Conclusions: The average values of corneal aberrations for defocus, astigmatism, coma, trefoil and spherical aberration are in the range of values reported in the scientific literature, while the distribution of corneal aberrations values present displacement of most of the cases towards the lower values of the determination range.
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@#Introduction: Chronic lymphocytic leukaemia (CLL) is the most frequent adult leukaemia in the Western world. The clinical presentation varies greatly, from very indolent cases to those with aggressive and fast advancing disease. This variation has significant implications for clinical approaches, therapeutic tactics, and, ultimately, survival durations from diagnosis. Acquired chromosomal aberrations play a key role in CLL aetiology. Due to difficulty to obtain abnormal metaphases for analysis, few methods such as fluorescence in-situ hybridization (FISH) and multiplex ligation-dependent probe assay (MLPA) were employed to detect chromosomal aberration however the methods are limited to specific locus only. Thus, this study is aimed to detect the chromosomal aberrations using DNA microarray platform. Methods: In this retrospective study, DNA archive obtained from 7 CLL patients which collected at diagnosis and subjected to Affymetrix CytoScan® 750K single nucleotide polymorphism (SNP) array following the manufacture procedure. The raw data obtained were analysed using the Chromosome Analysis Suite (ChAS) software (Affymetrix) using annotations of genome version GRCh38 (hg38). Result: Out of 7 patients, 4 of them showing deletion of 13q while 3 of them showing deletion of 14q in various region . Some of the deleted loci were too small (0.42-0.6Mb) to be detected by conventional cytogenetic analysis (CCA). There was also the presence of additional chromosomal aberrations that could be missed by CCA, FISH, or MLPA due to cryptic deletion or duplication that was as small as 0.4MB in size. Conclusion: The present study showed that low resolution chromosomal aberration was able to be detected using DNA microarray platform in comparison to CCA, FISH and MLPA.
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Objective:To investigate the clinical value of isolated fetal echogenic bowel (FEB) as an indicator for invasive prenatal diagnosis.Methods:This retrospective study enrolled 183 pregnant women who were diagnosed with isolated FEB and underwent invasive prenatal diagnosis in Fujian Maternity and Child Health Hospital from August 2013 to January 2021. Clinical data including the results of conventional karyotyping and chromosomal microarray analysis (CMA), cytomegalovirus (CMV) DNA loads in amniotic fluid and pregnancy outcomes were reviewed analyzed. Chi-square test was used for statistical analysis Results:Karyotyping was performed on all of the 183 fetuses and three (1.64%) aneuploidies (one case of trisomy 21, one trisomy 18 and one 47,XYY syndrome) were detected. One trisomy 21 and four pathogenic (P)/likely pathogenic (LP) copy number variation (CNV) were detected among 108 fetuses who received CMA. The detection rate of P/LP chromosomal abnormalities by CMA was higher than that by karyotyping, but there was no significant difference between them [4.63% (5/108) vs 0.93% (1/108), χ 2=1.54, P>0.05]. In addition, three cases of variants of uncertain significance (VOUS) were detected by CMA. CMV DNA loads of fetal cells in the amniotic fluid samples of the 166 cases were determined, and only one (0.6%) was positive (CMV DNA up to 7.01×10 6 copies/ml), and no abnormalities were found in karyotype analysis and CMA detection. A total of 176 cases were followed up, and among them only one case of intrauterine infection and seven cases (three aneuploidies and four P/LP CNV) of chromosomal abnormalities were terminated after genetic counseling. Three fetuses with VOUS and other 165 fetuses without chromosomal abnormalities had a good prognosis after birth. Conclusions:Isolated FEB may be the abnormal ultrasound finding in fetuses with chromosomal abnormalities or CMV infection. Prenatal genetic testing and the exclusion of intrauterine infection are important for management during pregnancy and prognosis assessment of FEB.
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Objective:To analyze the genetic etiology and prognosis in fetuses with increased nuchal translucency (NT) in order to assist in the clinical prenatal genetic counseling and diagnosis.Methods:This study retrospectively enrolled 1 658 cases of singleton pregnancy (<35 years old) receiving invasive prenatal diagnosis, including karyotype analysis and/or chromosome microarray analysis or copy number variation (CNV) sequencing, due to NT value ≥2.5 mm in the first trimester in Henan Provincial People's Hospital from August 2014 to December 2021. They were divided into different groups according to the thickness of NT (≥2.5-<3.0, ≥3.0-<3.5, ≥3.5-<4.5, ≥4.5-<5.5, ≥5.5-<6.5 and ≥6.5 mm groups) and abnormal ultrasound findings (isolated increased NT group, increased NT complicated by soft markers/non-severe structural abnormality group and increased NT complicated by severe structural abnormality group). The results of invasive prenatal diagnosis and pregnancy outcomes were compared between different groups using Chi-square test and trend Chi-square test. Results:The detection rates of numerical abnormalities of chromosomes were 15.8% (262/1 658) and 17.6% (252/1 431) when the NT thickness cut-off value were 2.5 mm or 3.0 mm, respectively. Overall, the detection rate of numerical abnormalities of chromosomes increased with thickness of NT ( χ2trend=180.75, P<0.001), ranging from 6.6% (44/671) in the NT≥2.5-<3.5 mm group to 45.6% (113/248) in the NT≥5.5 mm group. The incidence of pathogenic/likely pathogenic CNV(P/LP CNV) did not increased with NT thickness ( χ2trend=3.26, P=0.071), and the highest detection rate was observed in the NT≥4.5-<5.5 mm group (9.0%, 19/211). The detection rate of numerical abnormalities of chromosomes plus P/LP CNV in the isolated NT≥2.5-<3.0 mm group and NT≥3.0-<3.5 mm group were 5.3% (10/188) and 9.6% (36/375), respectively, however, the difference was not statistically significant ( χ2=3.06, P=0.080). The detection rates of numerical abnormalities of chromosomes plus P/LP CNV in the isolated NT≥3.5-<4.5 mm group and NT≥2.5-<3.0 mm complicated by soft markers/ non-severe structural abnormality group were 12.7% (52/410) and 24.1% (7/29), respectively, and the risk were 2.6 times (95% CI: 1.3-5.2) and 5.7 times (95% CI: 2.0-16.4) of the isolated NT≥2.5-<3.0 mm group, respectively. The pregnancy termination rate increased with the NT thickness ( χ2trend=304.42, P<0.001), ranging from 10.8% (23/212) in the NT≥2.5-<3.0 mm group to 90.7% (117/129) in the NT≥6.5 mm group. After exclusion of the pregnancies terminated due to numerical abnormalities of chromosomes and P/LP CNV, 87.6% (862/984) of the fetus with increased NT were born alive. Conclusions:The detection rate of numerical abnormalities of chromosomes increases with the thickness of NT. Invasive prenatal diagnosis is required for non-advance aged singleton pregnant women when fetuses present with isolated NT≥2.5 mm with or without soft markers/structural abnormalities.
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AIM: To evaluate the effect of preoperative degrees of myopic astigmatism and anterior corneal curvature on the functional optical zone(FOZ)after transepithelial photorefractive keratectomy(TransPRK).METHODS: Retrospective study was conducted on 78 patients(130 eyes)with myopia and myopic astigmatism who underwent TransPRK, and they were divided into control group(cylinder 0D), moderate astigmatism group(-0.50～-2.00D)and high astigmatism group(>-2.00～<-6.00D). The FOZ was measured and compared among the three groups 6mo after operation. The correlations between attempted correction, anterior corneal curvature, corneal aberrations, Q value, and the FOZ were analyzed.RESULTS: At 6mo after operation, the mean FOZ was 5.16±0.12mm in the control group, 5.29±0.23mm in the moderate astigmatism group, and 5.49±0.23mm in the high astigmatism group(P<0.001), and the FOZ of the high astigmatism group was significantly higher than moderate astigmatism and control group(P<0.05, P<0.001); Pearson correlation analysis showed that the changes in spherical equivalent, total corneal higher-order aberrations(HOAs), coma, and spherical aberration were all negatively correlated with FOZ(all P<0.05); and FOZ positively correlated with changes in the steep curvature(K2), mean curvature(Km), corneal astigmatism, and Q value(all P<0.01). Multiple linear regression analysis showed that there was still positive correlation between preoperative K2 and FOZ after adjusting for other risk factors(P<0.001).CONCLUSION: Patients with high astigmatism can obtain a larger FOZ and less induced coma after TransPRK. A larger FOZ can be achieved in eyes with steeper keratometry.
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Objectives: The purpose of this study was to evaluate the mutagenic potential of fluoxetine and fluoxetine-galactomannan. Methods: Chromosomal aberration test and Salmonella typhimurium/microsome mutagenicity assay. Results: The results showed that fluoxetine (250 µg/mL) can cause chromosomal breaks of treated leukocytes and increase the frequency of reversion of the tester strains of S. typhimurium / microsome assay only at the highest concentration (5 mg/mL), while fluoxetine encapsulated in galactomannan did not cause these changes (leukocytes and S. typhimuriums strains). Conclusion: In summary, fluoxetine showed a mutagenic effect detectable only at high concentrations in both eukaryotic and prokaryotic models. Furthermore, the fluoxetine/galactomannan complex, in this first moment, prevented the mutagenicity attributed to fluoxetine, emphasizing that the present encapsulation process can be an alternative in preventing these effects in vitro.
Objetivos: avaliar o potencial mutagênico da fluoxetina e da fluoxetina-galactomanana. Métodos: Teste de aberração cromossômica e ensaio de mutagenicidade de Salmonella typhimurium /microssoma. Resultados: a fluoxetina (250 µg/mL) pode causar quebras cromossômicas de leucócitos tratados e aumentar a frequência de reversão das cepas testadoras de S. typhimurium /microssoma apenas na concentração mais alta (5 mg/mL), enquanto a fluoxetina encapsulada em galactomanano não causou essas alterações (leucócitos e cepas de S. typhimurium). Conclusão: a fluoxetina mostrou um efeito mutagênico detectável apenas em altas concentrações em modelos eucarióticos e procarióticos. Além disso, o complexo fluoxetina/galactomanan, neste primeiro momento, evitou a mutagenicidade atribuída à fluoxetina, ressaltando que o presente processo de encapsulamento pode ser uma alternativa na prevenção desses efeitos in vitro.
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Fluoxetine , Chromosome Aberrations , Salmonella typhimurium , Chromosome Breakage , Microsomes , Mutagenicity TestsABSTRACT
Objetivo: Determinar el cambio de la sensibilidad al contraste en pacientes operados de miopía con técnicas de superficie y su relación con la aberrometría ocular. Métodos: Se realizó un estudio experimental con 324 ojos de 162 pacientes miopes atendidos en la consulta de Cirugía Refractiva del Instituto Cubano de Oftalmología "Ramón Pando Ferrer" en el período de enero 2019 y marzo de 2020 y que fueron operados de cirugía refractiva con láser de excímero, técnicas de superficie y perfil de ablación asférico. La sensibilidad al contraste fue la variable principal de comparación entre ambas técnicas quirúrgicas. Se formaron dos grupos de pacientes, cuya asignación fue secuencial, al primer grupo, se le realizó la técnica quirúrgica PRK-MMC (81) y al segundo LASEK-MMC (81) con un seguimiento de 3 meses. Resultados: Predominaron las mujeres con miopía leve y edades entre 21 y 28 años. A los tres meses la sensibilidad al contraste, agudeza visual sin corrección, equivalente esférico y el valor cuadrático medio total mejoraron de manera significativa, mostrando una relación positiva con la sensibilidad al contraste en ambos grupos, sin diferencias entre ellos. Conclusiones: La sensibilidad al contraste mejora con técnicas de superficie y posee una relación positiva y significativa con los resultados visuales, refractivos y aberrométricos. El estudio de las aberraciones oculares proporciona un arma fundamental para valorar la calidad óptica del ojo humano, información que permite conocer la calidad visual que se puede esperar en los pacientes evaluados(AU)
Objective: To determine the change in contrast sensitivity in patients operated on for myopia with surface techniques and its relationship with ocular aberrometry. Methods: An experimental study was carried out with 324 eyes of 162 myopic patients treated at the Refractive Surgery Clinic of the Cuban Institute of Ophthalmology "Ramón Pando Ferrer" between January 2019 and March 2020 who underwent refractive surgery with excimer laser and surface techniques and aspheric ablation profile. Contrast sensitivity was the main variable of comparison between both surgical techniques. Two groups of patients were sequentially assigned, the first group underwent PRK-MMC (81) and the second LASEK-MMC (81) with a 3-month follow-up. Results: Women with mild myopia and ages between 21 and 28 years predominated. After 3 months contrast sensitivity, uncorrected visual acuity, spherical equivalent and total average square value improved significantly, showing a positive relationship with contrast sensitivity in both groups, with no differences between them. Conclusions: Contrast sensitivity improves with surface techniques and has a positive and significant relationship with visual, refractive and aberrometric outcomes. The study of ocular aberrations provides a fundamental tool to assess the optical quality of the human eye, information that allows us to know the vision quality that can be expected in the patients evaluated(AU)
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Humans , Female , Adult , Contrast Sensitivity , Myopia/surgeryABSTRACT
Purpose: Phacoemulsification with intraocular lens (IOL) implantation is the standard of care for cataractous eyes. Monofocal IOLs are spherical or aspheric. The aspheric design of IOLs reduces the spherical and higher-order aberrations and impacts contrast sensitivity post cataract surgery. There are some studies, but data in the Indian setting with the IOLs we used is lacking. We aimed to compare the effect of implantation of spheric and aspheric foldable intraocular lenses on postoperative quality of vision, spherical aberration, and contrast sensitivity. Methods: This prospective observational study was conducted at a tertiary care hospital with an ophthalmology specialty, data collection from January 2017 to May 2018 in 100 patients. Patients meeting the inclusion criteria were selected. Their preoperative and postoperative data were collected and divided into groups based on whether spherical or aspheric IOL was implanted after cataract surgery. Variables assessed were visual acuity on days 7 and 30, spherical aberrations, and contrast sensitivity was assessed at 1?month postoperative. Results: The mean age of the patients in this study was 64 ± 8 years with a majority of patients (60%) being females. There is no significant difference in postoperative visual acuity between the two groups. Internal SA was significantly lower (~50%) in eyes implanted with aspheric IOLs (P value = 0.004, 0.0001) compared with the spherical group. Contrast sensitivity of patients of the aspheric group was significantly better (P value <0.05). Conclusion: The optical design of the aspheric IOLs reduced spherical aberrations and increased contrast sensitivity.
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Aims: In this study, we aimed to investigate the intercorrelations between tear film break up time, measured non-invasively using non-invasive keratographic break-up time (NIKBUT), higher order aberrations (HOA) and quality of vision (QoV) in pseudophakic patients.Study Design: Cross-sectional.Methods: Thirty-five pseudophakic aged patients aged 50 years or older, and 35 control phakic patients aged 17 to 23 years with corrected visual acuity of 20/20 were included in this study. All subjects underwent similar examination including QoV questionnaire, aberrometry to measure HOA, and NIKBUT. HOA was measured with the OPD-Scan/ ARK 10000 corneal analyzer (Nidek CO. Ltd), expressed as Root Mean Square (RMS) HOA and NIKBUT was assessed using non-invasive TF-Scan module Keratograph 5M (K5M), equipped with modified tear film scanning function (Oculus, Wetzlar, Germany). Statistical analysis was performed to find the correlation between NIKBUT, HOA and QoV.Results: Patients in the pseudophakic group were significantly older (median age 66 vs. 20 years; P<0.01), had shorter NIKBUT (10.5 vs. 17.2; P<0.01), lower QoV score (1.63 vs. 0.68; P=0.04), and higher RMS HOA (0.5 vs. 0.26; P<0.01) compared to control group. NIKBUT was inversely correlated with RMS HOA (r = -0.19; p = 0.03) and RMS HOA was significantly correlated with QoV, even after adjustment for age and gender (r = -0.21; P0.04). NIKBUT <9.93s was correlated with lower QoV. The area under the curve was 0.81 (95% CI = 0.67 � 0.95, p = 0.012), and had 100% sensitivity and 61% specificity.Conclusion: Shorter NIKBUT was correlated with greater HOA and greater HOA was correlated with lower QoV. NIKBUT value of shorter than 9.93s could potentially predict pseudophakic patients who will likely experience visual symptoms leading to decreased QoV; thus, the use of artificial tears might be beneficial.
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Purpose: Vision is one of the most important senses. The first stage of vision is the creation of the observed object抯 image on the retina. The quality of the retinal image is affected by several factors, such as diffraction, sampling on the retina, chromatic aberration, scattering and higher order aberrations. The measurement of the quality is achieved both with subjective (visual acuity, contrast sensitivity) and objective methods (PSF, MTF, Strehl ratio, RMS). The purpose of this project is the measurement of higher order aberrations of the anterior corneal surface (with a Placido corneal topographer) and of the contrast sensitivity (with a Pelli Robson optotype). Then, we will try to find if there is a correlation between them.Methods and Materials: 20 persons participated in this survey, divided in two groups of 10 persons each. The first group (group 1) included subjects up to 39 years old and the second group (group 2) from 40 years and up. The participants didn抰 have any pathological problems, except lower order refractive errors. Both eyes of each individual were included in the procedure. First, the higher order aberrations of the anterior corneal surface were measured, with the implementation of a Placido corneal topographer. This was followed by a measurement of the contrast sensitivity. The whole procedure took place under two lighting conditions, both photopic and mesopic. The examination presentation of the higher order aberrations is performed with the use of Zernike polynomials.Results: The results of the measuring procedure showed that for the first group, under photopic conditions (luminance 32.70 cd/m2) the mean value (� standard deviation) for the higher order aberrations RMS and decimal logarithm contrast sensitivity was 0.073 � 0.018?m and 1.54 � 0,16 (contrast 2.88 � 1.24%) respectively. For the second group the corresponding values were 0.080 � 0.036?m and 1.59 � 0.16 (contrast 2.57 � 1.24%). Accordingly, under mesopic conditions (luminance 1.14 cd/m2) the values for the first group were 0.252 � 0.064 ?m and 1.27 � 0.15 (contrast 5.37 � 2.06%), while for the second were 0.253 � 0.069?m and 1.32 � 0.12 (contrast 4.79 � 1.35%). Spherical aberration and coma (horizontal and vertical) were also measured for both groups under photopic and mesopic conditions. The results showed that for the first group, under photopic conditions, RMS for coma and spherical aberration is 0.033 � 0.014 ?m and 0.022 � 0.011 ?m respectively, while for the second group 0.041 � 0.027 ?m and 0.024 � 0.008 ?m. Under mesopic conditions, the relevant results are 0.139 � 0.065 ?m and 0.124 � 0.035?m for the first group and 0.149 � 0.066 ?m and 0.107 � 0.038 ?m for the second group.Finally, we should mention here that the equivalent defocus error corresponding to the higher order aberration RMS was estimated. The results for all the participants (without age separation), are 0.23 � 0.09D (photopic conditions) and 0.28 � 0.07D (mesopic conditions).Conclusions: From the statistical analysis of the results we conclude that there exists a symmetry between left and right eyes regarding higher order aberrations. Furthermore, it seems that age is not a significant factor for differences on the magnitude of higher order aberrations both under photopic and mesopic conditions as well. Similar conclusions are also reached for the contrast sensitivity measurements. In addition, we have observed that a correlation exists between the higher order aberrations of the anterior corneal surface and the contrast sensitivity, for both photopic and mesopic conditions. Correlation also exists between coma and contrast only under photopic conditions. But there is no significant correlation between spherical aberration and contrast. The age difference of these two groups has not an effect on the results. Finally, the equivalent defocus is too small, both for photopic and mesopic conditions and between each other, in order to be clinically significant.
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Objetivo. Evaluar la asociación del higroma quístico retronucal (HQR) y anomalías cromosómicas fetales. Métodos. Estudio observacional retrospectivo de 323 fetos del primer trimestre con riesgo para anomalías cromosómicas diagnosticados por ecografía entre las 11 y 13,6 semanas. Resultados. De 323 fetos con riesgo para anomalías cromosómicas, se encontró 132 casos de anomalías cromosómicas (40,9%). Se identificaron 145 casos de HQR; en 64 (56,6%) se realizó biopsia de vellosidades coriales y en 81 (43,5%) amniocentesis, hallándose cariotipo anómalo en 82 (56,6%). De 88 fetos con HQR aislado, 33 casos (37,5%) tuvieron alguna anomalía cromosómica; en 58 fetos con HQR asociado a otros hallazgos anormales, se encontró que en 43 fetos (74,1%) hubo anomalías cromosómicas, y de ellos 24 (41,4%) tenían onda de flujo (OVF) anormal del ductus venoso, 17 (29,3%) tenían edema generalizado, 8 casos (13,8%) con cardiopatía, 7 (12,1%) ausencia del hueso nasal. Los valores predictivos del HQR fueron: sensibilidad (S) 62,1%, especificidad (E) 67%, valor predictivo positivo (VPP) 56,6%, valor predictivo negativo (VPN) 71,9%, p<0,001, OR: 3,3. El HQR asociado a otros hallazgos anormales, tuvo los siguientes valores predictivos: S 52,4%, E 76,2%, VPP 76,2%, OR: 3,5, LR+: 2,2, p<0,000. El edema generalizado y el ductus venoso anormal tuvieron los valores predictivos más altos: VPP 88,2% y 83,3%, respectivamente. Las anomalías cromosómicas encontradas con mayor frecuencia fueron: T21 (53,7%), monosomía X (18,3%), T18 (15,9%), T13 (6,1%). Conclusiones. El higroma quístico retronucal es un marcador de riesgo con alto valor predictivo para anomalías cromosómicas, siendo mayor cuando está asociado a otros hallazgos ecográficos anormales. La identificación ecográfica del HQR en el tamizaje prenatal del primer trimestre debería ser indicación para recomendar una prueba diagnóstica para anomalías cromosómicas.
Objective: To evaluate the association of retronucal cystic hygroma (RCH) and fetal chromosomal abnormalities. Methods: Retrospective observational study of 323 first trimester fetuses at risk for chromosomal abnormalities diagnosed by ultrasound between 11 and 13.6 weeks. Results: Of 323 fetuses at risk for chromosomal abnormalities, 132 cases of chromosomal abnormalities were found (40.9%). A total of 145 cases of RCH were identified; chorionic villus biopsy was performed in 64 (56.6%) and amniocentesis in 81 (43.5%); an abnormal karyotype was found in 82 (56.6%). Of 88 fetuses with isolated RCH, 33 (37.5%) had some chromosomal abnormality. In 58 fetuses with RCH associated with other abnormal findings, chromosomal abnormalities were found in 43 fetuses (74.1%) and of these 24 (41.4%) had abnormal ductus venosus flow wave (DVF), 17 (29.3%) had generalized edema, 8 cases (13.8%) with cardiopathy, 7 (12,1%) with absent nasal bone. The predictive values of RCH were sensitivity (S) 62.1%, specificity (Sp) 67%, positive predictive value (PPV) 56.6%, negative predictive value (NPV) 71.9%, p<0.001, OR: 3.3. RCH associated with other abnormal findings were S 52.4%, Sp 76.2%, PPV 76.2%, OR: 3.5, LR+: 2.2, p<0.000. Generalized edema and abnormal ductus venosus had the highest predictive values: PPV 88.2% and 83.3%, respectively. The most frequently found chromosomal abnormalities were T21 (53.7%), monosomy X (18.3%), T18 (15.9%), T13 (6.1%). Conclusions: Retronucal cystic hygroma is a risk marker with high predictive value for chromosomal abnormalities, being higher when associated with other abnormal ultrasound findings. Ultrasonographic identification of RCH in first trimester prenatal screening should be an indication to recommend diagnostic testing for chromosomal abnormalities.
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Purpose: To assess impact of tear optics on repeatability of a Scheimpflug device with a Hartmann Shack aberrometer and a ray tracing aberrometer. Methods: One hundred healthy and 100 postrefractive surgery eyes underwent dry eye evaluation including Schirmer抯 test and tear film break?up time (TBUT). They underwent optical quality analyzer (OQAS, Visio metrics S.L, Terrassa, Spain) to assess objective scatter index (OSI), three scans each on Pentacam AXL wave (OCULUS Optikgerate Gmbh, Wetzlar, Germany), iTrace (Tracey� Technologies, Texas, USA) for flat, steep keratometry, thinnest corneal thickness, root mean square higher?order aberrations (RMS HOA), RMS lower?order aberrations (LOA), spherical aberrations, RMS COMA. Repeatability of Pentacam AXL wave and iTrace in healthy and postrefractive eyes (OSI >1 vs OSI <1) was studied using within?subject standard deviation (Sw) test杛etest repeatability (TRT), coefficient of variation (COV). Results: OSI showed an inverse association with TBUT (P < 0.001). All measurements with Pentacam AXL wave with OSI < 1 had excellent repeatability, intraclass correlation coefficient (ICC) ranging from 0.88 for HOA, to 0.92 for LOA. The Sw, TRT, and COV of all aberration measurements were significantly lower (better) than those of iTrace. In eyes with OSI ?1, the repeatability with Pentacam AXL wave dropped with ICC ranging from 0.77 for HOA, to 0.84 for LOA with lower Sw, TRT, and COV of all aberration measurements as compared to iTrace. Maximum variation was seen with HOA and minimum with LOA. Conclusion: Tear optics affected repeatability of Pentacam wave and iTrace. Pentacam wave had better repeatability in eyes with a poor tear film as compared to iTrace. Thus, the tear film can impact repeatability of an instrument and it is important to assess the tear film prior to imaging patients, which can change the way we interpret and image these patients.
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Introducción: la discapacidad intelectual se considera un problema de salud pública global, la prevalencia oscila entre el 1% al 3% de la población mundial, cifra de la que se estima el origen genético estaría representado por el 5-7% de síndromes subteloméricos. El objetivo de la presente investigación fue determinar la frecuencia de discapacidad intelectual de etiología genética debida a rearreglos cromosómicos crípticos en 69 pacientes del IDAI. Material y Métodos. El estudio descriptivo de corte transversal se realizó en el Instituto de Genética en 69 pacientes con discapacidad intelectual de 5 a 18 años del Instituto de Adaptación Infantil (IDAI). El estudio fue dividido en tres etapas, la primera consistió en la elaboración de la historia clínica genética, seguidamente, se realizó el estudio de cariotipo en sangre periférica a todos los pacientes, finalmente, con la sospecha diagnóstica se realizó citogenética molecular a nueve de ellos, empleando una sonda locus específica. Resultados. Se encontró 43.48% de rearreglos cromosómicos, 24.67% correspondió a síndromes crípticos, de estos el 7.25% respondió a síndromes subteloméricos. Se observó mayor afectación en la población masculina: 45 hombres (65%) y 24 mujeres (35%), obteniendo una razón de sexo de 1.88 a favor del sexo masculino. Conclusiones. Se debe considerar la causa genética en toda discapacidad intelectual idiopática, sobre todo la debida a rearreglos cromosómicos crípticos . Para confirmar la sospecha diagnóstica se emplean técnicas de citogenética clásica y de hibridación fluorescente in situ , de esta manera se llega a un diagnóstico más preciso para coadyuvar en el asesoramiento genético del paciente.
Introduction. Intellectual disability is considered a global public health problem, the prevalence ranges from 1% to 3% of the world population, a figure whose genetic origin is estimated to be represented by 5-7% of subtelomeric syndromes. The objective of this research was to determine the frequency of intellectual disability of genetic etiology due to cryptic chromosomal rearrangements in 69 patients of IDAI. Material and methods. The descriptive cross-sectional study was carried out at the Institute of Genetics in 69 patients with intellectual disabilities from 5 to 18 years of age from the Institute for Child Adaptation (IDAI). The study was divided into three stages, the first consisted of preparing the genetic clinical history, then peripheral blood karyotyping was performed on all patients, finally, with suspected diagnosis, molecular cytogenetics was performed on nine of them, using a locus-specific probe. Results. 43.48% of chromosomal rearrangements were found, 24.67% corresponded to cryptic syndromes, of these 7.25% responded to subtelomeric syndromes. Greater involvement was observed in the male population: 45 men (65%) and 24 women (35%), obtaining a sex ratio of 1.88 in favor of the male sex. Conclusions. The genetic cause must be considered in all idiopathic intellectual disability, especially that due to cryptic chromosomal rearrangements. To confirm the diagnostic suspicion, classical cytogenetics and fluorescent in situ hybridization techniques are used, thus reaching a more precise diagnosis to assist in the genetic counseling of the patient.
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Intellectual Disability , In Situ Hybridization, FluorescenceABSTRACT
Objective:To analyze the type and characteristics of fetal cardiac abnormalities and their relationships with genetic abnormalities and clinical prognosis.Methods:The clinical data of 162 pregnant women with fetal cardiac abnormalities who came to the prenatal diagnosis center of Peking University First Hospital and performed genetic tests from February 2013 to February 2021 were reviewed. Genetic testing methods included chromosome karyotype analysis, array-based comparative genomic hybridization (aCGH) and pathogenic gene detection. Fetuses with isolated cardiac abnormalities and no fatal genetic abnormalities were assessed using the fetal cardiac birth defects clinical outcome score and followed up.Results:(1) Ultrasonography results: among the 162 fetuses, 86 cases (53.1%, 86/162) had isolated cardiac abnormalities, and 76 cases (46.9%, 76/162) had extra-cardiac abnormalities; single cardiac abnormalities were in 84 (51.9%,84/162) cases, and multiple cardiac abnormalities occurred in 78 cases (48.1%,78/162). (2) Genetic examination results: there were 39 cases (24.1%, 39/162) of pathogenic genetic abnormalities, including 35 cases (21.6%, 35/162) of pathogenic chromosome karyotype abnormality, 3 cases (1.9%, 3/162) of pathogenic copy number variant (CNV), and 1 case (0.6%, 1/162) of pathogenic gene variation. The detection rates of pathogenic genetic abnormalities were 16.3% (14/86) in fetuses with isolated cardiac abnormalities and 32.9% (25/76) in fetuses with cardiac abnormalities and extra-cardiac abnormalities, and the difference was statistically significant ( χ2=6.094, P=0.014). The detection rate of genetic abnormalities was 28.6% (24/84) in the single cardiac abnormalities, among which ventricular septal defect was 36.7% (11/30), atrioventricular septal defect was 8/13, tetralogy of Fallot was 3/17, persistent trancus arteriosus was 1/1, cardiac tumor was 1/1; no genetic abnormality was detected in the other single cardiac abnormality types (22 cases in total). The main types of pathogenic genetic abnormalities were trisomy 21 (41.7%, 10/24) and trisomy 18 (41.7%, 10/24). (3) Pregnancy outcome and fetal prognosis: among 72 fetuses with isolated heart abnormalities without pathogenic genetic abnormalities, there were 4 cases of grade Ⅰ, all of which continued pregnancy; 39 cases of grade Ⅱ, with 21 cases induced labor, 18 cases continued pregnancy; 26 cases of grade Ⅲ, with 23 cases induced labor, 3 cases continued pregnancy; 3 cases of grade Ⅳ, all of which induced labor. Totally, there were 47 cases induced labor and 25 cases continued pregnancy, 24 cases (96.0%, 24/25) of which were alive. Conclusions:When fetal cardiac abnormalities are detected by prenatal ultrasound, comprehensive cardiac and extra-cardiac ultrasound assessment and further genetic testing are recommended. Fetuses excluded pathogenic genetic abnormalities and extra-cardiac abnormalities should perform clinical prognostic score evaluation through multidisciplinary collaboration, to improve maternal and fetal outcomes.
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Objective:To investigate the application value of noninvasive prenatal DNA screening combined with nuchal translucency thickness measurement in the diagnosis of fetal chromosome aneuploidy.Methods:A total of 5 730 pregnant women who were screened for fetal chromosomal diseases in the Quzhou Maternal and Child Health Hospital from January 2017 to March 2019 were included in this study. All of them underwent noninvasive prenatal DNA screening and nuchal translucency thickness measurement. The results of amniocentesis were used as the gold standard to evaluate the diagnostic efficacy of noninvasive prenatal DNA screening, nuchal translucency thickness measurement and their combination.Results:Noninvasive prenatal DNA screening revealed that 64 (1.12%) women out of 5 730 pregnant women had high risk of developing chromosomal abnormalities. Ultrasound examination results showed that nuchal translucency was thickened in 140 (2.44%) women. The outcome of adverse pregnancy increased with the increase of nuchal translucency thickness. Among the 68 pregnant women who underwent amniocentesis, 51 women developed chromosomal abnormalities, with trisomy 21 syndrome being the majority (23/51,45.10%). The diagnostic efficacy of noninvasive prenatal DNA screening combined with nuchal translucency thickness measurement in the diagnosis of fetal chromosomal aneuploidy reached the ideal level.Conclusion:Noninvasive prenatal DNA screening combined with nuchal translucency thickness measurement has a high clinical application value. The combined method can be used as the main prenatal DNA screening method for pregnant women and it can effectively avoid the birth of children with chromosomal abnormalities.
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Objective:To analyze the clinical and genetic characteristics of a 27-year-old male patient with intellectual disability and his pedigree to provide a reference for genetic counseling and prenatal diagnosis.Methods:G-banding and array comparative genomic hybridization (aCGH) were performed to analyze the karyotypes and genomic copy number variations of the proband (Ⅲ-1) and his family members. Based on the results, prenatal diagnosis was performed for one pregnant woman (Ⅲ-2) in the pedigree who is the sister of the proband.Results:All karyotyping were normal in the family members, while aCGH results showed a 1 533 kb microduplication in the Xq25 region of the proband, his mother (Ⅱ-3), his uncle (Ⅱ-2), and his sister (Ⅲ-2), which was confirmed to be pathogenic. The proband and his uncle presented with intellectual disability, bradylalia, and facial dysmorphism. In contrast, his mother and sister showed normal phenotypes. His sister's fetal karyotype and aCGH results were normal, and the pregnancy continued. A male baby (Ⅳ-1) was delivered vaginally at term and showed no physical or intellectual abnormalities during a 46-month follow-up.Conclusions:Xq25 microduplication might be the cause of intellectual disability in the proband. STAG2 is probably the essential gene in Xq25 region.
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Objective:To analyze the indications for prenatal diagnosis and summarize the pregnancy outcomes and its influencing factors of pregnant women with fetal sex chromosome aneuploidy (SCA).Methods:This study retrospectively enrolled 1 372 fetuses prenatally diagnosed with SCA in Medical Genetics Center of Guangdong Women and Children Hospital from January 2013 to December 2021. The relationship between prenatal diagnosis indications and SCA as well as between ultrasound abnormalities, pregnancy outcomes and SCA types were analyzed by Chi-square test and trend Chi-square test. Results:The most common prenatal diagnosis indication was abnormal non-invasive prenatal testing (NIPT) (61.6%, 845/1 372). The most common SCA type was 47,XXY in cases with indications of abnormal NIPT and advanced maternal age, mosaic in cases with high or borderline risk of Down syndrome, and 45,X in cases with increased nuchal translucency or cystic hygroma. Of 1 372 pregnant women with fetal SCA, 17 were lost to follow-up, seven had intrauterine fetal death, and 1 348 (98.3%) were followed up for pregnancy outcomes including 36.3% (489/1 348) continued pregnancies and 63.7% (859/1 348) terminations. Pregnancy termination rates decreased sequentially in pregnant women carrying fetuses with 45,X, 47,XXY, mosaic, 47,XXX and 47,XYY [99.2% (247/249), 74.5% (307/412), 67.8% (156/230), 36.6% (86/235) and 28.4% (63/222), χ2trend=352.76, P<0.001]. There was no significant difference in pregnancy termination rates among the cases with different mosaic mutations (all P>0.05). The pregnancy termination rate was higher in fetuses with SCA complicated by ultrasound structural abnormalities than in those without ultrasound abnormalities and those with ultrasound soft markers [91.5% (182/199) vs 57.1% (535/937) and 67.0% (142/212), χ2 were 83.68 and 36.85, both P<0.001]. Moreover, the pregnancy termination rate in fetuses with SCA complicated by ultrasound soft markers was higher than those without ultrasound abnormalities ( χ2=7.13, P<0.05). Conclusions:NIPT abnormality is the most common indication for prenatal diagnosis of SCA. The types of SCA and ultrasound findings are important factors determining whether the pregnancy would be continued or not.