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.
Cilia are hair-like protuberance on cells of the human body that play a vital role in organs generation and maintenance. Abnormalities of ciliary structure and function affect almost every system of the body, such as the brain, eyes, liver, kidney, bone, reproductive system and so on. Retinal photoreceptor cells are one of sensory neurons which convert light stimuli into neurological responses. This process, called phototransduction, takes place in the outer segments (OS) of rod and cone photoreceptors. OS are specialized sensory cilia, and disruptions in cilia genes, which are causative in a growing number of non-syndromic retinal dystrophies, such as retinitis pigmentosa, Leber’s congenital amaurosis. These syndromes are genetically heterogeneous, involving mutations in a large number of genes. They show considerable clinical and genetic overlap. At present, there are few researches on retinal ciliopathies and clinical treatment strategy. This review shows a comprehensive overview of ciliary dysfunction and visual development related diseases, which contributes to understand the characteristics of these diseases and take early intervention in clinic.
Objective
To explore the feasibility of transcatheter closure of congenital heart disease (CHD) under the guidance of transthoracic echocardiography (TTE).
Methods
A total of 37 patients with CHD who received transcatheter closure under the guidance of transthoracic echocardiography from November 2013 through November 2015 in our hospital were recruited. There were 15 males and 22 females, aged 1 to 16 years. Among them 32 patients suffered atrial septal defect and 5 patients had patent ductus arteriosus. The transcatheter closure of CHD was performed under the guidance of TTE. The patients underwent echocardiography follow-up at one, three and six months after surgery.
Results
Closure devices were successfully implanted in 37 patients under TTE guidance. The procedure was simple and safe. During the follow-up, no severe complication such as valvular injury, pericardial effusion, residual shunt and peripheral vascular injury occurred.
Conclusion
Transcatheter closure of CHD under TTE guidance is a feasible method and worth further clinical application.
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.
ObjectiveTo observe clinical phenotypes and analyze the pathogenic genes of Leber congenital amaurosis (LCA). MethodsA retrospective clinical study. From 2019 to 2020, 2 patients diagnosed with LCA by genetic testing in Tianjin Medical University Eye Hospital and their 6 unaffected family members were enrolled in the study. Two patients were from 2 unrelated families, both were probands. The patient's medical history was inquired in detail, slit lamp microscopy, ultra-widefield fundus photography, autofluorescence, and flash visual evoked potential (F-VEP) were performed. Peripheral vein blood (3-5 ml) was collected and genomic DNA was extracted from all study subjects. A total of 381 pathogetic genes associated with inherited retinal diseases, were selected by targeted exome sequencing capture strategy. Sanger sequencing was used to verify suspected pathogenic mutations. Candidate pathogenic mutations were identified after bioinformatics analysis. Sanger sequencing, real-time quantitative polymerase chain reaction and family co-identification were used to confirm the final mutations. ResultsTwo patients were male, aged 3 and 27 years. One case had vision loss in both eyes, accompanied by nystagmus and acupressure eye sign since childhood. The clinical hallmark of the proband (F1-Ⅱ-3) in F1 includes clearly boundary of optic disc, normal retinal blood vessels and macular fovea. The implied period of the maximum forward wave in both eyes of F-VEP was roughly normal, and its amplitude decreased significantly. The phenotype of the proband (F2-Ⅱ-1) in F2 includes optic nerve head pallor, bone-spicule intraretinal pigmentation, “gold-foil maculopathy”, retina patchy hypo-autofluorescence in both eyes. There was no abnormal phenotype in the eyes of the family members. According to the genetic diagnosis, the proband (F1-Ⅱ-3) carried the GUCY2D gene c.835G>A (p.D279N) (M1) and exon 9-19 deletion (M2) compound heterozygous mutations, in which M1 was derived from healthy mother and M2 was derived from healthy father. The proband (F2-Ⅱ-1) carried CRB1 gene c.1576C>T(R526X) (M3) and c.1522T>C (C508R) (M4) compound heterozygous mutations, in which M3 from the healthy father, M4 from the healthy mother. M2 and M4 were novel mutations. ConclusionGUCY2D gene mutations lead to LCA1 type in the F1 family, CRB1 gene mutations lead to LCA8 type in the F2 family; there are significant different phenotypes caused by different pathogenic genes.
ObjectiveTo explore risk factors associated with mortality and restenosis after the surgery for congenital pulmonary venous stenosis (CPVS) combined with congenital heart disease.MethodsFrom May 2007 to August 2019, 58 patients received surgical relief of CPVS combined with congenital heart disease, including 24 males and 34 females, aged 17.2±26.3 months, weighing 8.8±8.2 kg. Endpoints were death and restenosis, and the risk factors were analyzed. A univariate and multivariate risk analyses were performed.ResultsPreoperative pulmonary venous stenosis severity score (PVSSS) was 4.5±2.7. Average pulmonary vein counts with CPVS was 1.9±1.0. There were 2 (3.4%) early deaths. The mean follow-up time was 2-145 (49.8±40.0) months. The 1-, 2-, 3- and 5-year overall survival rates were 86.7%, 81.3%, 78.5% and 73.6%, respectively, and the pulmonary venous restenosis-free rates were 79.6%, 68.5%, 68.5% and 68.5%, respectively. Preterm birth was an independent risk factor for mortality. The pulmonary venous peak flow rate ≥1.2 m/s at discharge was an independent risk factor for mortality and restenosis.ConclusionThe prognosis of CPVS is still poor. Postoperative residual stenosis at discharge is an independent risk factor for death and restenosis.
ObjectiveTo explore the hemodynamic effects of inhaled nitric oxide (iNO) on postoperative hemodynamic in patients with cyanotic congenital heart disease (CHD) combined with decreased pulmonary blood flow.MethodsFrom 2014 to 2018, there were 1 764 patients who received corrective repair of cyanotic CHD with decreased pulmonary blood flow in the Department of Pediatric Cardiac Surgery of Fuwai Hospital. We included 61 patients with the ratio of right ventricular systolic pressure to systolic blood pressure (SBP) ≥75% after weaning from cardiopulmonary bypass. There were 41 males and 20 females, with the age of 20.5 (9.0, 39.0) months and weight of 12.5±7.8 kg. The patients were divided into two groups: a conventional group (33 patients, conventional therapy only) and a combined therapy group (28 patients, iNO combined with conventional therapy). The hemodynamics during the first 24 hours after iNO therapy and the in-hospital outcomes of the two groups were investigated and compared.ResultsThere was no statistical difference between the two groups in demographic characteristics and surgical parameters (P>0.05). The hemodynamic effects of iNO within 24 hours included the decrease in the vasoactive inotropic score (VIS, 21.6±6.6 vs. 17.3±7.2, P=0.020) along with the increase in blood pressure (SBP: 73.7±9.7 mm Hg vs. 90.8±9.1 mm Hg, P<0.001) , the decrease in central venous pressure (10.0±3.1 mm Hg vs. 7.9±2.1 mm Hg, P=0.020), the decrease in lactate (2.2±1.7 mmol/L vs. 1.2±0.5 mmol/L, P<0.001) and increase in urine output [2.8±1.7 mL/(kg·h) vs. 4.9±2.2 mL/(kg·h), P<0.001]. The decrease of VIS at 24 h after the surgery in the conventional therapy group was not statistically significant (22.1±7.9 vs. 20.0±8.5, P=0.232). Besides, we discovered that the need for renal replacement therapy (RRT) was less in the combined therapy group than that in the conventional therapy group, especially in the moderate complicated surgery [risk adjustment in congenital heart surgery (RACHS-1) ≤3] subgroup (9.5% vs. 40.7%, P=0.016).ConclusionIn pediatric patients after corrective repair of cyanotic and pulmonary blood follow decreased CHD with increased pulmonary vascular resistance, iNO combined with conventional therapy can improve the hemodynamics effectively. Compared with the conventional therapy, the combined therapy with iNO can decrease the VIS and the need for RRT, which is beneficial to the postoperative recovery of patients.
Objective To evaluate the functional and aesthetic evaluation of external fixator lengthening through plantar approach for fourth brachymetatarsia. Methods A retrospective analysis was conducted on 20 patients (23 feet) with fourth brachymetatarsia who met the selection criteria between January 2016 and January 2024, including 3 males and 17 females, with 8 left, 9 right, and 3 bilateral cases. The mean age was 24.7 years (range, 14-51 years). The preoperative metatarsal shortening length was (13.8±3.2) mm. The preoperative American Orthopaedic Foot and Ankle Society (AOFAS) forefoot score was 79.5±3.9, the visual analogue scale (VAS) score of appearance satisfaction was 1.7±0.8, and the appearance index (AI) score was 13.6±0.9. All patients underwent external fixator lengthening through plantar approach. The lengthening length of metatarsal bone, lengthening ratio, healing time, and healing index were recorded. Functional outcomes were assessed using the AOFAS forefoot score, VAS score of appearance satisfaction, and quality-of-life impact with AI questionnaire. Results All 20 patients were followed up 14-55 months with an average of 36.3 months. During the follow-up, complications occurred in 4 cases (17.4%), including 2 cases of metatarsophalangeal joint stiffness, which had no significant effect on the function and appearance. Delayed union of osteotomy occurred in 1 case (healed at 12 weeks after operation). Pin loosening occurred in 1 case and recovered after outpatient reinforcement. No complications related to plantar scar occurred. At last follow-up, the lengthening length of metatarsal bone was (13.9±3.1) mm, and the lengthening ratio was 25.8%±5.6%. All cases achieved bony union, with a mean healing time of (64.3±12.5) days and a healing index of (46.9±4.8) d/cm. At last follow-up, AOFAS score was 98.9±2.1, the VAS score of appearance satisfaction was 9.3±0.7, and the AI score was 0.6±0.8, which significantly improved when compared with those before operation (t=27.398, P<0.001; t=32.994, P<0.001; t=56.135, P<0.001). Conclusion External fixator lengthening through plantar approach is a safe and effective technique for fourth brachymetatarsia, achieving satisfactory functional and aesthetic outcomes.
ObjectiveTo analyze the perdictive value of Screening Tool for the Assessment of Malnutrition in Pediatrics (STAMP) for malnutrition or postoperative complications in children with critical congenital heart disease (CHD).MethodsA total of 875 children with critical CHD who were hospitalized in West China Hospital, Sichuan University form August 2019 to February 2021, including 442 males and 433 females with a median age of 30 (12, 48) months, were assessed by STAMP in Health Information System. Clinical data of postoperative complications were collected.Results(1) Based on World Health Organization Z-score as gold standard, 24.5% had malnutrition risk, and 34.3% were diagnosed with malnutrition. According to STAMP, the children were with medium malnutrition risk of 37.9% and high malnutrition risk of 62.1%. There was a statistical difference of incidence rate of malnutrition and detection rate of STAMP malnutrition risk in gender, age, ICU stay or length of mechanical ventilation (P<0.05); (2) with the optimal cut-off point of 5.5 in STAMP for malnutrition, the sensitivity, specificity, positive predictive value, negative predictive value and area under the curve (AUC) were 68.3%, 84.3%, 48.1%, 88.3% and 0.82, respectively; (3) 12.0% of the children were with postoperative complications; (4) with the optimal cut-off point of 5.5 in STAMP for postoperative complications, the sensitivity, specificity, positive predictive value, negative predictive value and AUC were 83.8%, 73.1%, 18.8%, 99.1% and 0.85, respectively.ConclusionChildren with critical CHD have a higher incidence of malnutrition risk and postoperative complications. STAMP has a good perdictive value for malnutrition or postoperative complications, however, the sensitivity and specificity of STAMP are affected by the gold standard or the cut-off point.
Objective To analyze the occurrence of acute gastrointestinal injury (AGI) after pediatric cardiac surgery with cardiopulmonary bypass (CPB) and its impact on prognosis, and to explore the risk factors and early warning indicators for AGI, in order to identify and diagnose AGI at an early stage. Methods This is a prospective observational study. The patients under 14 years with congenital heart disease receiving surgeries with CPB who were admitted to the pediatric ICU of West China Hospital, Sichuan University from December 2020 to December 2021 were included. The general information, perioperative gastrointestinal symptoms and intra-abdominal pressure, surgery-related information, postoperative organ function and prognosis of the children were collected. The patients were divided into an AGI group and a non-AGI group according to the 2012 European Society of Critical Care Medicine AGI diagnostic criteria. ResultsA total of 137 patients were enrolled, including 68 males and 69 females with a median age of 20.0 (6.0, 43.0) months. There were 60 patients in the AGI group and 77 patients in the non-AGI group, with an AGI incidence of 43.80%. The incidences of overall adverse outcomes, low cardiac output syndrome, and infectious complications were higher in the AGI group, and the vasoactive-inotropic score (VIS), mechanical ventilation time, ICU stay, and hospital stay were higher or longer in the AGI group, the differences were statistically significant (P<0.001). AGI was an independent risk factor for the overall adverse outcomes (OR=3.191, 95%CI 1.187 to 8.579, P=0.021). Univariate and multivariate logistic regression analyses indicated that weight, male, CPB time and intraoperative VIS were independent predictors for AGI after pediatric cardiac surgery. The receiver operating characteristic curve indicated that the patients with an intraoperative VIS>10.5 points and CPB time>96.5 min might have a higher possibility of postoperative AGI. ConclusionThe incidence of AGI in pediatric cardiac surgery with CPB is high, and it is an independent risk factor for overall adverse outcomes. Weight, male, CPB time , and intraoperative VIS are independent risk factors for AGI.
