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Structural integrity and cellular homeostasis of the embryonic stem cell niche are critical for normal tissue development. In the telencephalic neuroepithelium, this is controlled in part by cell adhesion molecules and regulators of progenitor cell lineage, but the specific orchestration of these processes remains unknown. Here, we studied the role of microRNAs in the embryonic telencephalon as key regulators of gene expression. By using the early recombiner Rx-Cre mouse, we identify novel and critical roles of miRNAs in early brain development, demonstrating they are essential to preserve the cellular homeostasis and structural integrity of the telencephalic neuroepithelium. We show that Rx-Cre;DicerF/F mouse embryos have a severe disruption of the telencephalic apical junction belt, followed by invagination of the ventricular surface and formation of hyperproliferative rosettes. Transcriptome analyses and functional experiments in vivo show that these defects result from upregulation of Irs2 upon loss of let-7 miRNAs in an apoptosis-independent manner. Our results reveal an unprecedented relevance of miRNAs in early forebrain development, with potential mechanistic implications in pediatric brain cancer.
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Homeostase , Proteínas Substratos do Receptor de Insulina/metabolismo , MicroRNAs/metabolismo , Proteínas Repressoras/metabolismo , Telencéfalo/embriologia , Telencéfalo/metabolismo , Junções Aderentes , Animais , Apoptose , Proliferação de Células , Humanos , Proteínas Substratos do Receptor de Insulina/genética , Camundongos , Camundongos Endogâmicos C57BL , MicroRNAs/genética , Proteínas do Tecido Nervoso/metabolismo , Neurogênese , Fator de Transcrição PAX6/metabolismo , Proteínas Repressoras/genética , Células-Tronco/metabolismo , Telencéfalo/citologia , Fatores de Transcrição/metabolismoRESUMO
The cardinal phenotypic hallmarks of Marfan syndrome (MFS) include cardiac, ocular, and skeletal abnormalities. Since the clinical phenotype of MFS is highly heterogeneous, with certain symptoms appearing as children age, the diagnostic process and establishing a genotype-phenotype association in childhood MFS can be challenging. The lack of sufficient childhood studies also makes it difficult to interpret the subject. This study aims to evaluate the relationship between clinical symptoms used as diagnostic criteria and FBN1 variations in children with MFS. This study investigated the relationships between genotypes and phenotypes in 131 children suspected of having Marfan syndrome (MFS). Diagnosis of MFS was made according to the revised Ghent nosology. FBN1 variants were categorized based on exon regions, type of variant, and pathogenicity classes. These FBN1 variants were then correlated with the clinical manifestations including cardiovascular, ocular, facial, and skeletal abnormalities. Out of the children, 43 were diagnosed with MFS. FBN1 variant was identified in 32 (74.4%) of the MFS children. MFS diagnosis could not be made in five (15.6%) FBN1 variant-positive children. The most common cardinal finding is cardiac anomalies n = 38 (88.3%). The most common FBN1 pathogenic variant was c.1786 T > C/p.Cys596Arg n = 4 (12.5%). The distribution of pathogenic variants was as follows: 29 (90.6%) missense, 2 (6.3%) frameshift, and 1 (3.1%) nonsense. The numbers of AD and EL of the variant-positive children were 16 (50%) and 14 (43.7%), respectively. Ocular abnormalities were more common in children with FBN1-positive MFS (p = 0.009). There was no difference in the number of cardiac abnormalities between FBN1-positive and FBN1-negative MFS patients (p = 0.139). Conclusion: This study examines the relationship between FBN1 variants and clinical features used as diagnostic criteria in MFS children. The findings emphasize the importance of long-term monitoring of heterogeneous clinical phenotypes and bioinformatic reanalysis in determining the genotype-phenotype relationship in children, as MFS symptoms can vary with age. What is Known: ⢠Marfan syndrome has highly variable phenotypic heterogeneity. ⢠The genotype-phenotype relationship in childhood Marfan syndrome is not clear enough due to the variation in the time of onset of the findings. What is New: ⢠This article provides regional data for the field of research on genotype-phenotype relationships in childhood Marfan syndrome. ⢠Long-term follow-up of clinical findings and bioinformatics reanalysis is an important requirement for a well-established genotype-phenotype relationship in childhood Marfan syndrome.
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Fibrilina-1 , Genótipo , Síndrome de Marfan , Fenótipo , Humanos , Síndrome de Marfan/genética , Síndrome de Marfan/diagnóstico , Criança , Feminino , Masculino , Fibrilina-1/genética , Pré-Escolar , Adolescente , Turquia/epidemiologia , Lactente , Estudos de Associação Genética , Mutação , AdipocinasRESUMO
Purpose: To compare the clinical outcomes, feasibility, and safety between groups with sutured and sutureless wound closure in congenital ectopia lentis (CEL) patients. Methods: Patients with CEL who received phacoemulsification combined with intrascleral fixation of capsular hook (CH) and implantation of capsular tension ring (CTR) and in-the-bag intraocular lens (IOL) were included in this study. Results: A total of 68 eyes of 34 patients aged 18 years or younger were enrolled in this study. Incisions of 21 patients (34 eyes) did not require sutures while sutures were applied in 21 patients (34 eyes). Postoperative uncorrected distance visual acuity, best corrected distance visual acuity and intraocular pressure measurements were comparable on follow-up visits (P > 0.05). The magnitude of surgically induced astigmatism was significantly greater (P = 0.001) in the suture group (Median: 0.47; IQ: 1.63, 2.97) than in the sutureless group (Median: 0.88; IQ: 0.63, 1.35). No cases of endophthalmitis and retinal detachment were found postoperatively in either group, while suture-related complications were observed in the sutured group, including loose suture with discomfort in 5 (14.71%) eyes, loose suture with mucus infiltration in 3 (8.82%) eyes. In total, 22 sutures (64.71%) of 34 eyes required removal. Conclusions: Sutureless clear corneal incision in CEL patients can achieve satisfactory clinical results comparable to sutured wound closure in terms of the efficacy and safety. Advantages of this approach are the reduced risk of suture-related complications, no need for additional surgery under general anesthesia for suture removal, and less cost.
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Córnea , Ectopia do Cristalino , Implante de Lente Intraocular , Procedimentos Cirúrgicos sem Sutura , Acuidade Visual , Humanos , Feminino , Masculino , Ectopia do Cristalino/cirurgia , Adolescente , Criança , Implante de Lente Intraocular/métodos , Implante de Lente Intraocular/efeitos adversos , Procedimentos Cirúrgicos sem Sutura/métodos , Procedimentos Cirúrgicos sem Sutura/efeitos adversos , Córnea/cirurgia , Córnea/patologia , Facoemulsificação/métodos , Facoemulsificação/efeitos adversos , Técnicas de Sutura/efeitos adversos , Resultado do Tratamento , Estudos de Viabilidade , SuturasRESUMO
BACKGROUND: Ectopia lentis is the dislocation of the natural crystalline lens and usually presents in the setting of trauma or other systemic diseases. Herein, we describe a case of an otherwise healthy four-year-old boy with isolated ectopia lentis whose partial lens dislocation was captured on a smartphone by the patient's father several days prior. CASE PRESENTATION: A four-year-old boy with no past medical, developmental, or trauma history presented with bilateral partial anterior lens dislocation with pupillary block. Initial ophthalmic evaluation two months prior was notable for uncorrected visual acuity at 20/100 OD, 20/250 OS, bilateral iridodenesis, and partially dislocated lenses inferonasally OD and inferiorly OS on slit lamp. Genetic testing found no abnormalities. Ten months later, the patient developed sudden onset of left eye pain. A dislocated lens and temporarily dilated left pupil were captured on a smartphone by the patient's father. He was evaluated 3 days later after a second episode and found to have hand motion vision OS, a fixed 8 mm left pupil with the crystalline lens subluxed into the pupil space and accompanying intraocular pressure OS of 40 mmHg. The lens was surgically removed with a limited anterior vitrectomy. Four and a half years after surgery, visual acuity was 20/125 OS with aphakic correction. The right eye eventually underwent prophylactic lensectomy and was 20/30 in aphakic correction. CONCLUSIONS: This report presents a unique presentation of isolated ectopia lentis with anterior lens dislocation and pupillary block and illustrates the role of smartphone photography in assisting in the triage of eye emergencies.
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Ectopia do Cristalino , Subluxação do Cristalino , Distúrbios Pupilares , Humanos , Ectopia do Cristalino/diagnóstico , Ectopia do Cristalino/cirurgia , Masculino , Pré-Escolar , Subluxação do Cristalino/diagnóstico , Subluxação do Cristalino/cirurgia , Subluxação do Cristalino/etiologia , Distúrbios Pupilares/diagnóstico , Distúrbios Pupilares/etiologia , Acuidade Visual/fisiologia , Vitrectomia/métodosRESUMO
INTRODUCTION: Weill-Marchesani syndrome (WMS) is a hereditary connective tissue disorder with substantial heterogeneity in clinical features and genetic etiology, so it is essential to define the full mutation spectrum for earlier diagnosis. In this study, we report Weill-Marchesani-like syndrome (WMS-like) change to autosomal dominance inheritance caused by novel haplotypic mutations in latent transforming growth factor beta-binding protein 2 (LTBP2). METHODS: Twenty-five members from a 4-generation Chinese family were recruited from Guangzhou, of whom nine were diagnosed with WMS-like disease, nine were healthy, and seven were of "uncertain" clinical status because of their young age. All members received detailed physical and ocular examinations. Whole-exome sequencing, Sanger sequencing, and real-time PCR were used to identify and verify the causative mutations in family members. RESULTS: Genetic sequencing revealed novel haplotypic mutations on the same LTBP2 chromosome associated with WMS-like, c. 2657C>A/p.T886K in exon 16 and deletion of exons 25-36. Real-time PCR and Sanger sequencing verified both mutations in patients with clinically diagnosed WMS-like, and in one "uncertain" child. In these patients, the haplotypic mutations led to ectopia lentis, short stature, and obesity. CONCLUSION: Our study revealed that WMS-like may be associated with haplotypic LTBP2 mutations with autosomal dominant inheritance.
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Proteínas de Ligação a TGF-beta Latente , Mutação , Linhagem , Síndrome de Weill-Marchesani , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , China/epidemiologia , Análise Mutacional de DNA , População do Leste Asiático/genética , Sequenciamento do Exoma , Haplótipos , Proteínas de Ligação a TGF-beta Latente/genética , Reação em Cadeia da Polimerase em Tempo Real , Síndrome de Weill-Marchesani/genética , Síndrome de Weill-Marchesani/diagnósticoRESUMO
Purpose: We report the successful surgical treatment of a case of spontaneous complete anterior crystalline lens luxation in a patient affected by retinitis pigmentosa (RP), associated with elevated intraocular pressure and pupillary block. Additionally, we review the current literature regarding the association between ectopia lentis and RP. Case description: A 44-year-old female RP patient presented to our emergency department reporting severe ocular pain in her left eye (LE) and sickness. She had no history of ocular trauma and did not report systemic disorders. The best corrected visual acuity at presentation was 1/20 in her LE, the intraocular pressure was 60 mmHg, and slit lamp examination showed in her LE a complete dislocation of the lens in the anterior chamber, with mydriasis, atalamia, and a pupillary block. The patient had been administered intravenous mannitol 18% solution and dorzolamide-timolol eye drops and was hospitalized for urgent lens extraction. Anterior segment optical coherence tomography and ultrasound biomicroscopy were performed before surgery. Decompressive 23-gauge pars plana vitrectomy and phacoemulsification were performed, and the capsular bag was removed due to marked zonular weakness, with deferred intraocular lens implant. Conclusions: Acute angle closure glaucoma in patients with RP may be rarely caused by spontaneous anterior lens dislocation. To our knowledge, this is the first report of spontaneous anterior lens dislocation in an RP patient, documented through photographs, anterior segment optical coherence tomography, and ultrasound biomicroscopy.
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Ectopia do Cristalino , Retinose Pigmentar , Humanos , Feminino , Adulto , Ectopia do Cristalino/complicações , Ectopia do Cristalino/diagnóstico , Retinose Pigmentar/complicações , Retinose Pigmentar/diagnóstico , Acuidade Visual , Facoemulsificação/métodos , Vitrectomia/métodos , Tomografia de Coerência Óptica/métodosRESUMO
Background/Objectives: To evaluate how the surgical technique and type of implanted intraocular lens influence the postoperative visual acuity and complications in ectopia lentis associated to Marfan syndrome patients. Materials and Methods: The medical records and videos of ectopia lentis surgeries in patients (children and adults) with Marfan syndrome, were retrospectively reviewed and compared. The study included 33 eyes that underwent four different intraocular lens implantation (IOL) techniques: IOL in conjunction with a simple capsular tension ring, IOL in conjunction with a Cionni modified capsular tension ring (m-CTR), two-point scleral IOL fixation and IOL with one haptic in the bag and one haptic sutured to the sclera. Results: Vision significantly improved from a mean preoperative visual acuity of 0.1122 to a mean postoperative visual acuity of 0.4539 in both age groups (p < 0.0001), with no difference in the primary outcome between children and adults. The most common surgical technique used in both age groups was IOL in conjunction with an m-CTR. There was only one major postoperative complication requiring additional surgery. Conclusions: Zonular weakness mainly influenced by age was the most important selection criterion for the surgical approach. Regardless of the technique employed, the postoperative visual acuity was improved in both adults and children.
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Ectopia do Cristalino , Implante de Lente Intraocular , Síndrome de Marfan , Acuidade Visual , Humanos , Síndrome de Marfan/complicações , Síndrome de Marfan/cirurgia , Síndrome de Marfan/fisiopatologia , Ectopia do Cristalino/cirurgia , Ectopia do Cristalino/etiologia , Adulto , Criança , Feminino , Masculino , Implante de Lente Intraocular/métodos , Implante de Lente Intraocular/efeitos adversos , Adolescente , Estudos Retrospectivos , Pessoa de Meia-Idade , Resultado do Tratamento , Pré-Escolar , Adulto JovemRESUMO
PURPOSE: Subluxation of the crystalline lens (Ectopia Lentis, EL) can lead to significant visual impairment and serves as a diagnostic criterion for genetic disorders such as the Marfan syndrome. There is no established criterion to diagnose and quantify EL. We prospectively investigated the distance between the zonular fibre insertion and the limbus (ZLD) in healthy subjects as a parameter to assess the position of the lens, quantify EL and provide normative data. METHODS: This prospective, observational, cross-sectional study includes one-hundred-fifty eyes of 150 healthy participants (mean age 28 years, range 4-68). Pupils were dilated with tropicamide 0.5% and phenylephrine 2.5% eyedrops. ZLD was measured in mydriasis at the slit lamp as the distance between the most central visible insertions of the zonular fibres on the lens surface and the corneoscleral limbus. Vertical pupil diameter (PD) and refractive error were recorded. If zonular fibre insertions were not visible, the distance between limbus and the pupillary margin was recorded as ZLD. RESULTS: 145 right and 5 left eyes were examined. 93% of study subjects were Caucasian, 7% were Asian. In eyes with visible zonular fibre insertions (n = 76 eyes), ZLD was 1.30 ± 0.28 mm (mean ± SD, range 0.7-2.1) and PD was 8.79 ± 0.57 mm (7.5-9.8). In the remaining 74 eyes, ZLD was 1.38 ± 0.28 mm (0.7-2.1), and PD was 8.13 ± 0.58 mm (6.7-9.4). For all eyes, ZLD was 1.34 ± 0.29 mm (0.7-2.1), and PD was 8.47 ± 0.66 mm (6.7-9.8). Refractive error and sex did not significantly affect ZLD. Smaller PD and older age were associated with larger ZLD (P < 0.001 and P = 0.036, respectively). CONCLUSION: Average ZLD was 1.34 mm in eyes of healthy subjects. Older age correlated with larger ZLD. These normative data will aid in diagnosing and quantifying EL.
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Ectopia do Cristalino , Cristalino , Humanos , Ectopia do Cristalino/diagnóstico , Masculino , Feminino , Estudos Prospectivos , Estudos Transversais , Adulto , Criança , Adolescente , Pessoa de Meia-Idade , Adulto Jovem , Idoso , Pré-Escolar , Cristalino/diagnóstico por imagem , Cristalino/patologia , Limbo da Córnea/patologia , Pupila/efeitos dos fármacosRESUMO
BACKGROUND: Congenital ectopia lentis (CEL) is a hereditary eye disease which severely impacts preschool children's visual function and development. This study aimed to evaluate the longitudinal changes in spherical equivalent (SE) refractive error in preschool children with CEL. METHODS: A retrospective cohort study was conducted at Zhongshan Ophthalmic Center, Guangzhou, China. Medical records of CEL patients under 6-year-old who were diagnosed with Marfan syndrome at the initial visit from January 2014 to March 2022 were collected and were divided into surgery and non-surgery groups. Mean change rate of SE in the two groups was evaluated, and the potential associated factors of SE change rate were investigated by mixed-effect regression model. RESULTS: A total of 94 preschool patients from 14 provinces of China were included. Among the 42 children of the surgery group, the mean age with standard deviation (SD) was 5.02 ± 0.81 years and patients experienced a myopic shift of -0.05 ± 0.09 D/month in average. The mean age with SD of the 52 children of the non-surgery group was 4.34 ± 1.02 years, and the mean myopic shift was -0.09 ± 0.14 D/month. The mixed-effect regression model identified that higher degree of myopia at baseline was associated with slower myopic shift both in surgery (ß = 0.901, 95% CI: 0.822 ~ 0.980, P < 0.001) and in non-surgery group (ß = 1.006, 95% CI: 0.977 ~ 1.034, P < 0.001) in CEL patients. Surgical treatment (ß = 2.635, 95% CI: 1.376 ~ 3.894, P < 0.001) was associated with slower myopic shift in all participants CEL patients. CONCLUSIONS: Myopic progression was slower in the surgery group than in the non-surgery group of CEL. Preschool CEL patients who met the surgical indication are suggested being performed with timely surgery to slow down the myopic progression.
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Ectopia do Cristalino , Miopia , Erros de Refração , Humanos , Pré-Escolar , Criança , Refração Ocular , Ectopia do Cristalino/diagnóstico , Ectopia do Cristalino/cirurgia , Estudos Retrospectivos , Erros de Refração/diagnóstico , Miopia/diagnósticoRESUMO
A 2-year-old male child presented to us with absent left testis in scrotum since birth. Parents noted a pinkish white globular mass in medial aspect of left thigh. At the time of presentation (2 years old) he had a 2 x 2 cm, firm, subcutaneous swelling located on the medial aspect of the left thigh. Ultrasonography was suggestive of left ectopic testis of size 1 x 1.2cm in the femoral region. Orchidopexy was done. In our case the term scrotoschisis will not be appropriate as testicular extrusion has occurred through femoral region and not the scrotum. This can be considered as extracorporeal testicular ectopia or bubonoschisis, respective to the location of the defect. We are reporting a case of extra corporeal testicular ectopia through the femoral region for the first time.
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Weill-Marchesani syndrome (WMS) manifests as ectopia lentis (EL), microspherophakia and short stature, which is caused by ADAMTS10, LTBP2, or ADAMTS17 gene defects. This study aims to investigate the characteristics and genotype-phenotype correlations of WMS with ADAMTS17 mutations. WMS patients with ADAMTS17 variants were identified by whole-exome sequencing from 185 patients with EL. All the included patients underwent comprehensive ocular and systemic examinations. ADAMTS17 variants were reviewed from included patients, published literature, and public databases. Bioinformatics analysis, co-segregation analysis, species sequence analysis, and protein silico modeling were used to verify the pathogenic mutations. A total of six novel ADAMTS17 mutations (c.1297C > T, c.2948C > T, c.1322+2T > C, c.1716C > G, c.1630G > A, and c.1669C > T) were identified in four WMS probands in our EL cohort (4/185, 2.16%). All probands and their biological parents presented with apparent short stature compared with the standard value. In particular, one child was detected with valvular heart disease, which has not previously been reported in patients with ADAMTS17 mutations. Conserved residues were greatly affected by the substitution of amino acids caused by these six mutations. Short stature could be considered a clue for EL patients with ADAMTS17 mutations, and much more attention needs to be paid to heart disorders among these patients. This study not only reported the characteristics of ADAMTS17 mutation-related WMS but also helped to recognize the genotype-phenotype correlations in these patients.
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Ectopia do Cristalino , Glaucoma , Síndrome de Weill-Marchesani , Humanos , Síndrome de Weill-Marchesani/genética , Mutação , Ectopia do Cristalino/genética , Estudos de Associação Genética , Proteínas ADAMTS/genética , Proteínas de Ligação a TGF-beta Latente/genéticaRESUMO
PURPOSE: Congenital ectopia lentis (CEL) and heart abnormalities are common clinical symptoms in patients with Marfan syndrome (MFS) and related fibrillinopathies, which is caused by mutations in fibrillin-1 (FBN1) gene. This study aims to explore the ocular and cardiovascular characteristics and their association with genotype in children with MFS and related fibrillinopathies. METHODS: Seventy-nine children diagnosed with CEL and with FBN1 mutations confirmed via whole-exome sequencing were included for genotypes and phenotypes analysis. The axial length (AL), corneal curvature, and refractive status were included for ocular phenotypes analysis. The cardiovascular examination was performed by echocardiography, and aortic root Z score was calculated to evaluate the severity of aortic dilatation. The heart disorders were classified as aortic root dilatation, valvular disorders, and others. Both the ocular and cardiac manifestations were collected for comprehensive analysis and compared among patients with different genotypes, including the mutation involving cysteine substitution or mutation in different regions. RESULTS: In CEL children with FBN1 mutations, 77.2% patients could be diagnosed as MFS. It was observed that children with mutations in exons 22-42 had significant higher aortic root Z score (P = 0.003) and higher incidence of cardiovascular disorders (P = 0.004). Additionally, children with cysteine substitution mutations had significant higher aortic root Z score (P = 0.011), and the aortic root Z score was positively associated with axial length (AL) in children under 6 years old (P = 0.035). Those with long AL (≥ 26 mm) had significant higher incidence of valve disorders (P = 0.023). In addition, nearly half the children with CEL (46.8%) were diagnosed with cardiovascular disease for the first time. CONCLUSIONS: CEL children with FBN1 mutations involving cysteine substitution or mutations in exons 22-42 or with long AL had higher risks of severe cardiovascular complications. Knowing the phenotype may help in anticipating severe cardiovascular disease in CEL patients.
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PURPOSE: To evaluate the peripheral vascular changes and effects of these on macular microvasculature in asymptomatic family members of familial exudative vitreoretinopathy (FEVR) patients. METHODS: This is a retrospective study including 61 eyes of asymptomatic family members of FEVR patients. Retinal abnormalities were assessed via ultra-widefield fluorescein angiography (UWF-FA) and optical coherence tomography angiography (OCTA). The eyes were grouped into 3: the first group comprised of eyes with normal findings on UWF-FA; the second group comprised of eyes with abnormal findings on UWF-FA but without any retinal ischemia; and the third group involved eyes with retinal ischemia or neovascularization. RESULTS: Best corrected visual acuity (BCVA) was 20/20 in all eyes. Forty eyes (65.6%) had abnormalities on UWF-FA. The most common feature was peripheral vascular looping, increased tortuosity, and anastomosis (63.9%). ODM/ODD ratio was higher in group 3 compared to groups 1 and 2. Deep foveal VD was lower in group 1 compared to groups 2 and 3. The mean FAZ area and perimeter were smaller in groups 2 and 3 compared to group 1. CONCLUSION: Even asymptomatic family members of FEVR patients may have significant peripheral retinal vascular abnormalities which may be associated with smaller optic disc, macular ectopia, and macular microvascular changes.
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Família , Vasos Retinianos , Humanos , Vitreorretinopatias Exsudativas Familiares , Estudos Retrospectivos , Angiofluoresceinografia/métodos , Tomografia de Coerência Óptica/métodos , IsquemiaRESUMO
BACKGROUND: This study aimed to identify an initial screening tool for congenital ectopia lentis (CEL) by comparing ocular biological parameters in children with myopia. METHODS: A retrospective case-control study was conducted at one tertiary referral centre, from October 2020 to June 2022. Axial length (AL), corneal curvature (CC), refractive astigmatism (RA), corneal astigmatism (CA), internal astigmatism (IA), the difference between the axis of RA and CA [AXIS(RA-CA)], white-to-white corneal diameter (WTW), and axial length-corneal radius ratio (AL/CR) were compared in 28 eyes of CEL patients, and 60 eyes of myopic patients matched for age and refraction. The spherical equivalent of each eye was < -3.00 D. Area under the curve (AUC) of the receiver operating characteristic curves were calculated. RESULTS: The differences in RA, AL, mean keratometry (Kmed), maximum keratometry (Kmax), minimum keratometry (Kmin), CA, IA, AXIS(RA-CA), WTW, and AL/CR between the CEL and myopic groups were statistically significant (p < 0.05; p < 0.001; p < 0.001; p < 0.001; p < 0.001; p < 0.05; p < 0.001; p < 0.001; p < 0.001; p < 0.001, respectively). In logistic regression analysis RA, IA, AXIS(RA-CA), and AL/CR were significantly associated with CEL (p < 0.05). AUCs for RA, IA, AXIS(RA-CA), and AL/CR were 0.694, 0.853, 0.814, and 0.960, respectively. AUCs for AL/CR in SE< -6.00 D subgroup was 0.970, and 0.990 in -6.00 D ≤ SE < -3.00 D group. An AL/CR < 3.024 was the optimal cut-off point differentiating the CEL and control groups (sensitivity, 92.9%; specificity, 88.30%). CONCLUSIONS: A smaller AL/CR could identify CEL in children with myopia. An AL/CR cut-off value of 3.024 may be the most sensitive and specific parameter for the differential diagnosis of CEL in patients with mild to high myopia.
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Astigmatismo , Ectopia do Cristalino , Miopia , Humanos , Pré-Escolar , Ectopia do Cristalino/diagnóstico , Ectopia do Cristalino/complicações , Astigmatismo/diagnóstico , Astigmatismo/complicações , Estudos Retrospectivos , Estudos de Casos e Controles , Refração Ocular , Córnea , Miopia/diagnóstico , Miopia/complicaçõesRESUMO
Ectopia cordis is a rare congenital defect with high mortality, and it remains challenging to radiologists, neonatologists and surgeons. CT angiography provides key information that aids in the decision-making process for possible surgical intervention. This pictorial essay describes CT angiography features in six neonates with ectopia cordis.
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Ectopia Cordis , Cardiopatias Congênitas , Recém-Nascido , Humanos , Criança , Ectopia Cordis/diagnóstico por imagem , Ectopia Cordis/cirurgia , Angiografia por Tomografia Computadorizada , Angiografia , Tomografia Computadorizada por Raios X , Cardiopatias Congênitas/cirurgiaRESUMO
Pelviureteric junction obstruction, also known as ureteropelvic junction obstruction, is a congenital narrowing of the urinary excretory tract at the junction between the renal pelvis and the ureter and is a common cause of congenital pelvicalyceal dilatation. The outcome is variable, from spontaneous resolution to renal parenchymal function loss in cases of untreated high-grade obstruction. Abnormalities in renal ascent, rotation and vascularity can be associated with pelviureteric junction obstruction and easily overlooked radiologically. In this pictorial review, we explore the anatomical, radiological and surgical correlations of pelviureteric junction obstruction in the context of a normal kidney and a spectrum of renal abnormalities, including hyper-rotation (also known as renal malrotation), failed renal ascent, fusion anomalies and accessory crossing renal vessels. For each scenario, we provide technical tips on how to identify the altered anatomy at the first ultrasound assessment and correlation with scintigraphic, cross-sectional and postoperative imaging where appropriate. A detailed ultrasound protocol specifically to assess and characterise pelviureteric junction obstruction in paediatric patients is also offered.
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Hidronefrose , Nefropatias , Rim Displásico Multicístico , Obstrução Ureteral , Criança , Humanos , Estudos Transversais , Rim/anormalidades , Obstrução Ureteral/cirurgia , Rim Displásico Multicístico/complicações , Nefropatias/complicaçõesRESUMO
To evaluate the characteristics and outcomes of fetuses with atrial appendage aneurysm (AAA) diagnosed by fetal echocardiography. The fetal echocardiography records of 1956 fetuses were evaluated retrospectively. Nine pregnancies who had been diagnosed with fetal AAA prenatally and evaluated after delivery were enrolled in the study. Perinatal and obstetric outcomes were analyzed. The incidence of fetal AAA in our series was 0.46%. Seven fetuses (77.8%) had right AAA, 1 fetus had left AAA (11.1%) and 1 fetus (11.1%) had bilateral AAA. The average gestational age at the first observation and/or diagnosis and gestational age at delivery was 22.3 ± 1.9 weeks and 34.7 ± 4.9 weeks, respectively. Incidences of associated cardiac anomaly, pericardial effusion, and nonimmune hydrops fetalis (NIHF) were 44.4%, 22.2%, and 11.1%, respectively. There was no chromosomal abnormality detected in 4 pregnancies where karyotype analysis was performed. There were 2 neonatal (22.2%) and 1 fetal (11.1%) deaths in our study group. Detailed cardiac and structural ultrasonographic examination should be performed in pregnancies with fetal AAA.
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BACKGROUND: Brain imaging has been utilized as a diagnostic tool in the workup of persistent pediatric dysphagia, yet the indications for imaging and the prevalence of Chiari malformation (CM) have not been established. OBJECTIVE: to evaluate the prevalence of CM anomalies in children who underwent brain magnetic resonance imaging (MRI) for pharyngeal dysphagia and to review the clinical findings in the CM group compared to the non-CM group. METHODS: A retrospective cohort study of children who underwent MRI as part of the workup for the diagnosis of dysphagia in a tertiary care children's hospital between 2010 and 2021. RESULTS: 150 patients were included. The mean age at diagnosis of dysphagia was 1 ± 3.4 years, and the mean age at MRI was 3.5 ± 4.2 years. Common comorbidities in our cohort included prematurity (n = 70, 46.7 %), gastroesophageal reflux (n = 65, 43.3 %), neuromuscular/seizure disorder (n = 53,35.3 %), and underlying syndrome (n = 16, 10.7 %). Abnormal brain findings were seen in 32 (21.3 %) patients, of whom 5 (3.3 %) were diagnosed with CM-I and 4 (2.7 %) patients with tonsillar ectopia. Clinical characteristics and dysphagia severity were similar between patients with CM-I/tonsillar ectopia and patients without tonsillar herniation. CONCLUSIONS: Brain MRI should be pursued as part of the work-up for persistent dysphagia in pediatric patients given the relatively higher prevalence of CM-I. Multi-institutional studies are required to establish the criteria and timing of brain imaging in patients with dysphagia.
Assuntos
Malformação de Arnold-Chiari , Transtornos de Deglutição , Criança , Pré-Escolar , Humanos , Malformação de Arnold-Chiari/complicações , Malformação de Arnold-Chiari/diagnóstico por imagem , Malformação de Arnold-Chiari/epidemiologia , Encéfalo/patologia , Transtornos de Deglutição/epidemiologia , Transtornos de Deglutição/etiologia , Imageamento por Ressonância Magnética , Prevalência , Estudos RetrospectivosRESUMO
Modern trends in advancement of phaco surgery techniques in patients with ectopia lentis (including patients with Marfan syndrome) are characterized by the transition from complete removal of the lens (lensectomy) to aspiration of the lens substance and attempts to preserve and reposition the capsular bag. This case study analyzes the results of surgical treatment of bilateral ectopia lentis in a 6-year-old patient with Marfan syndrome. The specifics of microinvasive phaco surgery consisted in capsular bag preservation and endocapsular fixation of the intraocular lens. The article presents the results of ophthalmological observation over a seven-year period.
Assuntos
Ectopia do Cristalino , Lentes Intraoculares , Lentes , Síndrome de Marfan , Humanos , Criança , Ectopia do Cristalino/complicações , Ectopia do Cristalino/diagnóstico , Síndrome de Marfan/complicações , Síndrome de Marfan/diagnóstico , Olho ArtificialRESUMO
This review describes hereditary diseases in which ectopia lentis may be present as one of the symptoms, considers the basic diagnostic concepts of lens disposition, and analyzes the options in surgical treatment of ectopia lentis and optical correction of aphakia.