ObjectiveTo investigate the clinical characteristics and surgical management of the familial exudative vitreoretinopathy (FEVR)-associated rhegmatogenous retinal detachment (RRD). MethodsRetrospective noncomparative case series. Thirty-three eye of 32 patients were diagnosed FEVR-associated RRD by Fluorescein fundus angiography. There were 26 males and 6 females. The male to female ratio is 4.3:1 with an average age of 19.35±8.83 years. The detection of best corrected visual acuity (BCVA), refraction status, fundus photograph and fluorescein fundus angiography(FFA)were underwent in all patients. FEVR was confirmedby FFA and positive family history. The BCVA, refraction status, morphology of retinal detachment, location, size and shape of retinal hole, presence and grade of proliferative vitreoretinopathy (PVR), and subretinal proliferation were recorded. ResultsAs for the refractive status, the scope of refraction was +2.0 D to-13.0 D andthe BCVA were range from light perception to 0.7. Atrophy holes which located at the temporal half were responsible for retinal detachment in all cases. Besides, horseshoe tears were noted in 6 eyes (18.18%), while macular tears were noted in 2 eyes of RRD (6.06%). The PVR greater than stage C2 was noticed in 10 eyes (30.30%), while subretinal proliferation was presented in 23 eyes (69.70%). ConclusionsMale predominance, juvenile onset and associated with moderate to high myopia are the main characteristics in FEVR-associated RRD. Atrophy holes at the temporal half and the subretinal proliferations were most commonly in FEVR-associated RRD. Detailed fuduns and FFA examination of the fellow eye should be undergone to avoid misdiagnosis.
ObjectiveTo observe and analyze the pathogenic gene types and clinical phenotypes of Leber congenital amaurosis (LCA).MethodsA retrospective clinical study. Six patients with LCA confirmed by genetic testing and 18 family members were included in the study. The patients came from six unrelated families. The family was investigated with a specific hereditary eye disease enrichment panel which contained 463 known pathogenic genes and based on targeted exome capture technology first to indentify the potential pathogenic genes and mutations. Then the TULP1, RPGRIP1, GUCY2D pathogenic mutations were conformed by Sanger sequencing. The pathogenicity of the gene variation was searched through relevant databases and PubMed literature, and its function was explained by protein prediction software.ResultsOf the 6 patients, 3 were males and 3 were females; the age was from 3 to 33 years. Nystagmus, finger pressing eyes, photophobia, and night blindness were seen in 5 cases; electroretinogram showed 3 cases of extinction or near extinction; and 4 cases of retinopathy. The results showed patients with compound heterozygous mutation of c.1318C＞T and c.1142T＞G, homozygous mutation ofc.1318C＞T and compound heterozygous mutation of c.1153G＞A and c.1561C＞T of TULP1 in Family 1, Family 2 and Family 5, respectively. There were compound heterozygous mutations of RPGRIP1 c.391delG and c.1468-2A＞G in Family 3 and c.715delA and c.1765C＞T in Family 6, respectively. Homozygous mutation of c.3177_3178delAC of GUCY2D was found in Family 4.The parents of all six patients were carriers of corresponding heterozygous mutations.TULP1 gene c.1142T＞G, RPGRIP1 gene c.391delG, c.715delA and c.1765C＞T and GUCY2D gene c.3177_3178delAC mutations were novel mutations and unreported. The 381th amino acid locus of product protein of TULP1 gene was highly conserved among species. The protein prediction software predicted that the mutation pathogenic. The c.391delG, c.715delA and c.1765C＞T mutations of RPGRIP1 gene and c.3177_3178delAC mutation of GUCY2D gene can lead to early translation termination of their product proteins, which are pathogenic variants.ConclusionThe pathogenic mutations of TULP1, RPGRIP1 and GUCY2D genes led to LCA 15, LCA 6 and LCA 1 in six families.
ObjectiveTo analyze the early outcomes of 203 neonates with low birth weight (<2 500 g) undergoing cardiac surgery, and to analyze the causes of death during hospitalization.MethodsFrom June 2003 to June 2017, medical records of 203 neonates with low birth weight undergoing congenital heart surgery in Guangdong General Hospital were reviewed retrospectively. There were 124 males and 79 females, including 151 premature infants. The average birth weight was 1 719±515 g, the average age at operation was 32.7±20.2 d and the average weight at operation was 1 994±486 g. The causes of death during hospitalization (including neonates given up on treatments) were analyzed.ResultsTotally 103 patients had pneumonia, 98 patients needed mechanical ventilation to support breathing and 26 patients needed emergency operation before operation. All patients undergoing congenital heart surgery were treated with general anesthesia with tracheal intubation, including 107 patients under non cardiopulmonary bypass (CPB) and 96 patients under CPB with a mean CPB time of 96.5±71.7 min and a mean aorta cross-clamp time of 51.8±45.5 min. The average postoperative mechanical ventilation time was 9.1±21.5 d and the average postoperative length of stay was 26.7±19.3 d. The major postoperative complications included pneumonia, anemia, atelectasis, septicemia, intrapleural hemorrhage, diaphragm paralysis and cardiac dysfunction. Twenty-nine patients died during hospitalization and the overall mortality rate was 14.3%. Four patients died in the operation room, 14 patients died 72 hours after operation and 2 patients were given up. The main causes of hospitalized death were low cardiac output syndrome, severe infection, disseminated intravascular coagulation disorder, acute renal failure and pulmonary hypertension crisis.ConclusionOverall, early cardiac surgery for low birth weight neonates is safe and effective. The difficulty of the cardiac surgery is the key to the prognosis. Strengthening perioperative management can improve the quality of operation and reduce the risk of mortality and morbidity during hospitalization.
ObjectiveTo observe the characteristics of images of optic coherence tomography (OCT) for the macular region of congenital retinoschisis and investigate its significance.MethodsThe data of OCT of 11 patients (20 eyes) with congenital macular retinoschisis diagnosed by direct or preplacedmirror ophthalmoscopy, fundus fluorescein angiography (FFA), and electroretinography (ERG) were retrospectively analyzed.ResultsThe images of OCT showed split in the mid portion of sensory retina at the macula in all eyes. The retina of fovea centralis was divided by the split into two slightly thickening layers. In addition, in a few number of cases, the parafoveal sensory retina which became much thickening with 2 splits, was divided into 3 layers.ConclusionThe characteristic of images of OCT in macular congenital retinoschisis is the split cavity at the middle layer of the retina, and OCT has a high sensitivity in the diagnosis of congenital retinoschisis. (Chin J Ocul Fundus Dis, 2005,21:93-96)
Objective To study the inflammation response and the biocompatibil ity of valved bovine jugular vein conduit (BJVC) and valved bovine jugular vein patch (VBJV-P) in treating complex congenital heart disease (CHD). Methods From December 2007 to March 2008, 16 patients with complex CHD were treated. Of 16 patients, 6 underwent conjunction right ventricular to pulmonary artery with BJVC and broaden right ventricular outflow tract (RVOT) with VBJV-P (BJVC group), and 10 underwent broaden RVOT with self pericardial patch (control group). In BJVC group, there were 3 males and 3 females, aging (5.6 ± 3.6) years, and including 1 case of type I truncus arteriosus, 1 case of type I truncus arteriosus with ventricular septal defect and patent foramen ovale, 1 case of congenital pulmonary atresia with ventricular septal defect and patent arterial duct, and 3 cases of Fallot’s tetrad. In control group, there were 5 males and 5 females, aging(4.3 ± 3.1) years, all being Fallot’s tetrad. The periphery vein blood of the two groups was collected during operation and after operation, and the levels of cytokine were detected with ELISA method. Meanwhile the cl inical data of the two groups were collected. Results There were no significant differences at levels of TNF-α and IL-6 between BJVC group and control group 1 week after operation (P gt; 0.05), and there was significant difference at level of IL-10 [(25.7 ± 5.0) pg/mL vs (19.5 ± 4.7) pg/ mL, P lt; 0.05]. There were no significant differences at levels of IL-6 and IL-10 within groups both in control group and in BJVC group (P gt; 0.05) between 1 week after operation and the anesthesia inducing period. And there was significant difference at level of TNF-α in BJVC group [(77.0 ± 1.6) pg/mL vs (82.9 ± 1.3) pg/mL, P lt; 0.05] and in control group [(78.6 ± 3.4) pg/mL vs (83.1 ± 1.9) pg/mL, P lt; 0.05] between 1 week after operation and the anesthesia inducing period. There were no statistically significant differences (P gt; 0.05) in leukocyte count and body temperature between BJVC group and control group. The X-ray films showed no abnormal ity in BJVC group and control group before operation and after operation. No hepatic and renal dysfunction occurred in control group; and 2 patients had hepatic dysfunction, which may be caused by antibiotics. Conclusion BJVC has a good biocompatibil ity in treating complexty CHD.
ObjectiveTo investigate the effect and safety of the pulmonary vasodilators in pediatric patients after Fontan operation. MethodsThis retrospective study evaluated the clinical utility of pulmonary vasodilators in pediatric patients with Fontan surgery. Between January and December 2013, 42 consecutive patients with single ventricle physiology who underwent a modified Fontan procedure of total cavapulmonary collection (TCPC) were enrolled. After extubated oral intake started, 24 patients (the treated group) received the pulmonary vasodilator treatment, while 18 patients (the untreated group) didn't not receive the treatment. ResultsNo inpatient death occurred after surgery. The primary endpoints were time of stay in hospital and time of chest tube drainage. There was no statistical difference between the two groups. Instead, patients in the treatment group seemed to have longer time of hospital stay (22 to 21 days) and chest tube drainage (14.0 to 8.5 days) than those in the untreated group. Compared with the untreated group, patients in the treatment group were younger (P=0.082) with no statistical difference, and had higher postoperative Lac with statistic difference (P=0.031), longer ventilation time with no statistical difference (P=0.050), and lower postoperative oxygen saturation with statistic difference (P=0.065). No clinically significant adverse events relating to pulmonary vasodilator therapy occurred during this study and, in particular, no significant abnormalities in hepatic, renal function tests were observed in pediatric Fontan patients. ConclusionsPulmonary vasodilator agents were found to be particularly used in the patients with serious conditions in our study. Our study results failed to show significant improvement of pulmonary vasodilator drugs after Fontan surgery in decreasing time of pleural drainage and time of stay in hospital.
Objective To explore the feasibility and efficacy in therapy of pectus excavatum using novel modified Nuss procedure after congenital heart disease (CHD) operation. Methods Thirty-six children (including 22 males and 14 females with an average age of 4.5±2.2 years ranging 2.8-18.0 years) with pectus excavatum after CHD operation from January 2011 to March 2015 were selected as an observation group. Thirty-eight pectus excavatum children (including 24 males and 14 females with an average age of 4.0±2.5 years ranging 2.8-20.0 years) without CHD from July to September 2013 were selected as a control group. The novel modified Nuss procedure was performed on the patients in both groups. The operation time, intraoperative blood loss, hospital stay as well as postoperative complications between two groups were reviewed and analyzed. Results In the observation group, the operation time was 50-72 (60.50±3.60) min and hospital stay was 4-6 (4.41±0.80) d. Meanwhile, the intraoperative blood loss was 5-10 (5.82±0.35) ml. In the control group, the operation time was 12-45 (20.15±0.68) min, hospital stay was 4-7 (4.61±0.63) d and the intraoperative blood loss was 3-8 (4.62±0.28) ml. The operation time was significantly longer in the observation group than that in the control group (P<0.05). But there was no significant difference in intraoperative blood loss or hospital stay between the two groups (P>0.05). No cardiac rupture happened in the two groups. Conclusion The novel modified Nuss procedure is safe and feasible for pectus excavatum after CHD operation with optimal outcomes.
Abstract: The cyanotic congenital heart defect remains a focal point to study in congenital heart diseases. A successfully developed model of cyanotic congenital heart defect can contribute to a profound advancement of clinical diagnosis and treatment. Various kinds of animal models simulating cyanotic heart diseases have been created and improved step by step , such as experimental pulmonary arteriovenous fistulas, inferior vena cava-left atrium shunt, pulmonary artery-left atrium shunt and breeding animals in mionect ic environment. As an important means, they are used to investigate the animal’s pathophysilolgocal characteristics in cyanotic and hypoxic state. However, it need a further exploration since these models are not fully perfect yet.
ObjectiveTo observe the optical coherence tomography (OCT) features of X-linked juvenile retinoschisis (XLRS) and its relationship and visual acuity. Methods Twenty-three XLRS patients (38 eyes) were enrolled in this study.All patients underwent best corrected visual acuity (BCVA) and frequency-domain optical coherence tomography (SD-OCT) examination. The international standard visual acuity chart was used for BCVA test and the results were then converted into logarithm of the minimum angle of resolution (logMAR) visual acuity. The mean logMAR BCVA of all patients was 0.41±0.28. Topcon 3D-OCT 1000 and Topcon DRI-OCT were applied to detect the retinal layers of retinoschisis. Based on the OCT features, retinoschisis was classified into 3 types, including splitting between outer nuclear layer (ONL) and outer plexiform layer (OPL), inner nuclear layer morphology (INL) splitting, splitting between ganglion cell layer (GCL) and nerve fiber layer (NFL). Based on the OCT features of fovea, there were photoreceptor inner segment (IS)/outer segment (OS) presence group and IS/OS absence group. ResultsThere were 17 eyes (44.7%) with splitting between ONL/OPL, 38 eyes (100%) with INL splitting, 13 eyes (34.2%) with splitting between GCL/NFL. INL splitting can coexist with splitting in other retinal layers. There were 25 eyes (65.8%) with splitting in 2 or more retinal layers. The mean logMAR BCVA were 0.32±0.17 and 0.44±0.22 respectively in the IS/OS absence group and presence group, the difference was statistically significant (t=6.531, P=0.008).The mean fovea thickness (FT) were(517.10±96.92)and(523.08±72.84) μm respectively in the IS/OS absence group and presence group, the difference was not statistically significant (t=2.282, P=0.061). There was no correlation between logMAR BCVA and FT (r=0.200, P=0.929). ConclusionsIn patients with XLRS, the foveomacular schisis involved in multiple retinal layers and most frequently in the INL. The defect of IS/OS is the important reason of the low visual acuity.
Objective To identify and observe the pathogenic gene variant and clinical phenotype in a family with Leber congenital amaurosis (LCA). MethodsA retrospective clinical study. Two patients and four family members from one LCA family (type 7), diagnosed via genetic testing at the First Affiliated Hospital of Xi'an Jiaotong University in January 2024 were included. Detailed patient and family histories were collected. All patients underwent examinations including best-corrected visual acuity (BCVA), intraocular pressure, color fundus photography, fundus autofluorescence (FAF), flash visual evoked potential (F-VEP), full-field electroretinography (ff-ERG), and optical coherence tomography (OCT). Family members underwent BCVA and color fundus photography examinations. Peripheral venous blood (5 ml) was collected from the patients and the four family members for genomic DNA extraction. High-throughput sequencing was used to screen for pathogenic gene variants. Identified variants were verified by Sanger sequencing. All variants were classified according to the American College of Medical Genetics and Genomics (ACMG) guidelines. Bioinformatics software including Mutation Taster, Polyphen-2, PROVEAN, and REVEL was used to analyze the pathogenicity of the variants. Results The proband (Ⅱ-2), a 14-year-old female, was born to consanguineous parents (first cousins). Her BCVA was 0.1 in both eyes; intraocular pressure was normal; the anterior segments showed no significant abnormalities. Color fundus photography showed waxy optic discs and a "coin-shaped," "salt-and-pepper" appearance in the retina. FAF revealed large areas of hypoautofluorescence in the macular region. OCT showed shallowing or disappearance of the foveal, disorganized retinal layers, and absence of the ellipsoid zone. F-VEP showed recordable P2 waves with no significant delay in peak time but slightly reduced amplitude. ff-ERG showed significantly reduced or non-detectable amplitudes of the scotopic and photopic a- and b-waves. The proband's elder sister (Ⅱ-1) had similar BCVA and fundus findings. The proband's parents (Ⅰ-1, Ⅰ-2), younger brother (Ⅱ-3), and younger sister (Ⅱ-4) showed no significant ocular phenotypic abnormalities. Genetic testing revealed that the proband and her elder sister were homozygous for the CRX gene variant c.122G>A:p.Arg41Gln. The proband's father, mother, and younger brother were heterozygous carriers of the same CRX variant; the younger sister showed no variation at this locus. Based on the clinical presentation, ff-ERG, and genetic test results, the final diagnosis was LCA type 7. According to ACMG guidelines, the c.122G>A variant was classified as likely pathogenic. Mutation Taster and Polyphen-2 software predicted the variant to be damaging; the REVEL score was 0.929, indicating a likely pathogenic variant. Conclusions The homozygous CRX gene variant c.122G>A:p.Arg41Gln causes autosomal recessive LCA type 7 in this family. LCA is characterized by early onset and severe visual impairment.