Clinical characteristics and genetic analysis of 23 newborns with hypotonia as the main manifestation / 中国新生儿科杂志

Objective:To study the role of neonatal panel detection based on next generation sequencing (NGS) combined with multiplex ligation-dependent probe amplification (MLPA) in the etiological differentiation of neonatal hypotonia.Methods:The clinical characteristics and gene test results of newborns with hypotonia as the main clinical manifestation treated at the Department of Neonatology of Jiangxi Provincial Children's Hospital from March 2017 to March 2021 were retrospectively analyzed.Results:A total of 23 children with hypotonia and feeding difficulties diagnosed by gene tests were included. 17 cases (73.9%) had obvious abnormal appearance, and 11 cases (47.8%) had congenital heart disease (atrial septal defect and/or patent ductus arteriosus). Among the 23 infants, 21 were detected by panel gene, 10 by methylation specific MLPA (MS-MLPA) and 4 by MLPA (SMN1 / SMN2). 14 cases of Prader-Willi syndrome, 4 cases of spinal muscular atrophy, 3 cases of congenital myopathy and 2 cases of Schaaf-Yang syndrome were diagnosed. 11 cases died (47.8%), 9 cases had growth retardation (39.1%), 2 cases had normal growth and development (8.7%), and 1 case survived without detailed information (4.3%). Newborns with unknown etiology and low muscle tone are often complicated with abnormal appearance and congenital heart disease. Neonatal panel combined with MLPA is helpful for accurate diagnosis.Conclusions:The detection of neonatal panel combined with MLPA is cheap, and can provide accurate diagnosis for most newborns with unexplained hypotonia in a short diagnosis cycle, which is conducive to the early formulation of clinical decision-making, and guide the treatment, follow-up and genetic consultation of children.

Middle-Range Theory of Ineffective Breathing Pattern in children with Congenital Heart Disease / Teoria de Médio Alcance do Padrão Respiratório Ineficaz em Crianças com Cardiopatia Congênita / Teoría de Mediano Alcance del Patrón de Respiración Ineficiente en niños con cardiopatías congénitas

Abstract Objective: to develop and evaluate a middle-range theory for the Nursing Diagnosis of Ineffective Breathing Pattern in children with congenital heart disease. Method: a methodological study carried out in two stages: 1) development of a middle- range theory for Ineffective Breathing Pattern in children with congenital heart diseases from the analysis of the NANDA-International taxonomy, Callista Roy's Adaptation Model and a literature review; and 2) assessment of the middle-range theory developed using expert panel evaluation. Results: after three panel evaluations, the final version of the middle-range theory resulted in four metaparadigms, two key concepts, two pictorial diagrams, two propositions and a description of the interrelationships between the key concepts of Ineffective Breathing Pattern in children with congenital heart diseases and evidence for the Nursing practice. Conclusion: the middle-range theory developed and evaluated by experts identified stimuli and behaviors that can assist nurses in identifying the reasons why Ineffective Breathing Pattern is diagnosed and how it manifests itself in children with congenital heart disease, increasing understanding of the relationships between the causes and their temporality.

Resumo Objetivo: desenvolver e avaliar uma teoria de médio alcance para o Diagnóstico de Enfermagem de Padrão Respiratório Ineficaz em crianças com cardiopatia congênita. Método: um estudo metodológico realizado em duas etapas: 1) desenvolvimento de uma teoria de médio alcance para padrão respiratório ineficaz em crianças com doenças cardíacas congênitas a partir da análise da taxonomia NANDA-Internacional, modelo de adaptação de Callista Roy e uma revisão da literatura; e 2) avaliação da teoria de médio alcance desenvolvida por meio da avaliação de painéis de especialistas. Resultados: após três avaliações de painéis, a versão final da teoria de médio alcance resultou em quatro metaparadigmas, dois conceitos-chave, dois diagramas pictóricos, duas propostas e uma descrição das inter-relações entre os conceitos-chave do Padrão Respiratório Ineficaz em crianças com cardiopatias congênitas e evidências para a prática de Enfermagem. Conclusão: a teoria do médio alcance desenvolvida e avaliada por especialistas identificou estímulos e comportamentos que podem auxiliar os enfermeiros na identificação das razões pelas quais o Padrão Respiratório Ineficaz é diagnosticado e como ele se manifesta em crianças com cardiopatia congênita, aumentando a compreensão das relações entre as causas e sua temporalidade.

Resumen Objetivo: desarrollar y evaluar una teoría de mediano alcance para el Diagnóstico de Enfermería "Patrón de Respiración Ineficiente" en niños con cardiopatías congénitas. Método: estudio metodológico desarrollado en dos etapas: 1) Desarrollo de una teoría de mediano alcance para el Patrón de Respiración Ineficiente en niños con cardiopatías congénitas a partir del análisis de la taxonomía NANDA-Internacional, del Modelo de Adaptación de Callista Roy y de una revisión de la literatura; y 2) Evaluación de la teoría de mediano alcance desarrollada por medio de una evaluación de un panel de expertos. Resultados: después de tres evaluaciones a cargo del panel, la versión final de la teoría de mediano alcance derivó en cuatro metaparadigmas, dos conceptos clave, dos pictogramas, dos propuestas y una descripción de las interrelaciones entre los conceptos clave del Patrón de Respiración Ineficiente en niños con cardiopatías congénitas y evidencia para la práctica de Enfermería. Conclusión: la teoría de mediano alcance desarrollada y evaluada por expertos identificó estímulos y comportamientos que pueden ayudar a los enfermeros a identificar los motivos por los cuales se diagnostica el Patrón de Respiración Ineficiente y cómo se manifiesta en niños con cardiopatías congénitas, mejorando así la comprensión de las relaciones entre las causas y su temporalidad.

Early and midterm results of the Rastelli operation in Fuwai hospital / 中华胸心血管外科杂志

Objective@#To describe eraly and midterm outcome of the Rastelli repair in Fuwai hospital Patients.@*Methods@#From May 2010 to March 2017, 71 patients with transposition of the great arteries(TGA)with ventricular septal defect(VSD)and right ventricular outflow tract obstruction(RVOTO) or double outlet right ventricle(DORV)with VSD and RVOTO underwent Rastelli repair. 48 cases male , 23 cases female . Age at operation is(4.7±2.7) years. There are 10 TGA cases, 27 DORV cases, 34 CTGA cases in this group. 30 patients(42.3% , 30/71)received palliative operation prior to the Rastelli procedure, including 13 BT shunt and 17 bi-Glenn operation. 31 patients(43.7%, 31/71 )underwent the Rastelli procedure with VSD enlargement. Right ventricle-to-pulmonary artery connection were created with the use of 9 homografts, 56 valved bovine jugular vein, 6 man-made valved Gore-Tex conduit. The overall mean right ventricle-to-pulmonary artery conduit size was(17.9±3.3)mm.@*Results@#CPB time was(209.0±83.4)minutes, aortic crossclamping time was(132.0±71.1)minutes, mechanical ventilation time was(102.6±81.7)h. Early mortality was 1.4%(1/71). morbidity in hospital was 16.9%, 4 patients with Ⅲ AVB implanted permanent pacemaker, Subxiphoid pericardial window drainage in 3 cases, delayed sternal closure in 3 and re-thoratomy for hemaostsis in 2.Follow up is from 4 months to 6.8 years. Overall survival was 97.2% and 97.2% at 1 and 5 years, respectively. Freedom from RVOTO was 98.6% and 84.1% at 1 and 5 years, respectively. Freedom from reintervention was 98.6% and 90.0% at 1 and 5years, respectively. 1 patients performed a conduit replacement. Seven patients performed 10 times balloon dilatation . Time-related freedom from recurrent LVOTO on echocardiogram in all patients, and the pressure gradient of the LV to the aorta was(10.5±8.8 )mmHg at the most recent follow-up.@*Conclusion@#The Rastelli operation remains the preferred procedure for part of the DORV , CTGA , TGA with VSD and severe fixed valvular or subvalvular PS. The Rastelli procedure can be performed with low early mortality. There is frequent need for late reoperation, especially for conduit replacement.

Surgical management of early Fontan failure:Fontan takedown / 中华胸心血管外科杂志

To analyze the outcomes of early Fontan failure after Fontan takedown. Methods A retrospective study of early Fontan Failure(EFF) children undergoing Fontan takedown from November 2013 to December 2017 was performed. Fontan takedown was defined as takedown back to an intermediate circulation, superior cavopulmonary connection. Fontan takedown was performed in 14 patients. There were 9 boys and 5 girls. Children were on average aged(4. 3 ± 1. 4) years when they had Fontan procedure. The mean weight was(14. 3 ±2. 7)kg. Operative procedure was extra-cardiac Fontan in 5 children, 9 had intra-cardiac Fontan. Fenestration was used in 11/14 patients. The outcomes were summarized with statistics, and risk factors for mortality after Fontan takedown were identified. Results The mortality after Fontan takedown was 4/ 14(28. 6％). In two patients(14. 3％), ECMO was followed after takedown, one of them died after two days. The time of ICU stay and hospital stay was relatively long(17. 0 ±11. 2)days and(33. 8 ±19. 4)days. The interval time between the Fontan procedure and the takedown operation is the risk fact after Fontan takedown. Conclusion Fontan takedown can be used as an effective management for the early Fontan failure, still with a high risk of mortality. Early diagnosis and takedown is recommended for EFF.

Effects of scleral buckling and vitrectomy for familial exudative vitreoretinopathy / 中华眼底病杂志

Objective To observe the surgical effects of scleral buckling and vitrectomy for familial exudative vitreoretinopathy (FEVR).Methods 34 eyes of 27 patients with FEVR who underwent either scleral buckling or vitrectomy were enrolled in this study.There are stage 2B in 2 eyes (5.88％),stage 3B in 7 eyes (20.59％),stage4Ain 1 eye (2.94％),stage4Bin 16 eyes (47.06％),stage 5 in8 eyes (23.53％).5 eyes associated with rhegmatogenous retinal detachment.The surgical approaches had been chosen according to the disease stage,severity,extent and morphology of the proliferative membrane.13 eyes (stage 2B in 2 eyes,3B in 4 eyes,and 4 in 7 eyes) underwent scleral buckling and 21 eyes (stage 3B in 3 eyes,4 in 10eyes,and 5 in 8 eyes) underwent vitreoretinal surgery.The main outcome measurement was the anatomic status of the macula,which was recorded as attached,partially attached or remain detached.The mean follow up was (18.00 ± 14.61) months (range 4 to 60 months).Results Among 13 eyes received scleral buckling,the macula was attached in 2 eyes with stage 2B (15.38％),partially attached in 11 eyes (84.62％) including 4 eyes with stage 3B,1 eye with stage 4A and 6 eyes with stage 4B.Among 21 eyes received vitrectomy,the macula was attached in 8 eyes (38.10％) including 2 eyes with stage 3B,4 eyes with stage 4 and 2 eyes with stage 5;the macula was partially attached in 9 eyes (42.86 ％) inducing 4 eyes with stage 4 and 5 eyes with stage 5;the macula remained detached in 4 eyes (19.05％) including 1 eye with stage 3B,2 eyes with stage 4 and 1 eye with stage 5.Conclusion If the surgical approaches were chosen based on the stage of FEVR and the severity,extent and morphology of the proliferative membrane,the surgery is effective and beneficial to FEVR patients.

Clinical manifestations and pathological characteristics of retrolental membranes secondary to persistent hyperplastic primary vitreous / 中华实验眼科杂志

Background Persistent hyperplastic primary vitreous (PHPV) is a congenital eye disease of children,because its clinical manifestations are nonspecific,it is easy to be misdiagnosed as congenital cataract and the prognosis is poor.There has been more researches on PHPV clinical characteristics than its histopathological feature and immunochemistry.Objective This study was to investigate the clinical characteristics of PHPV and the pathological characteristics of retrolental membranes secondary to PHPV.Methods The clinical data of 6 PHPV eyes from 6 patients during May 2005 to December 2014 were retrospectively analyzed.All the PHPV eyes received a combinating procedure of cataract extraction and anterior vitrectomy.The retrolental membranes were collected during surgery for the histopathological examination by hematoxylin & eosin staining and periodic acid-Schiff (PAS)staining.Immunochemistry was used to detect the expression of Vimentin,smooth muscle actin (SMA),S-100,glial fibrillary acidic protein (GFAP),neuron specific enolase (NSE),epithelial membrane antigen (EMA),CD34 and proliferating cell nuclear antigen (PCNA) in the retrolental membranes.Results Monocular PHPV was found in 6 cases since born,with the main clinical manifestation of similar to congenital cataract.The ocular axial was shorter in 5 PHPV eyes than that of the contralateral eye by A-sonography,and 1 eye accompanied by eye nystagmus,strabismus and small cornea.The retrolental membranes were seen during the surgery in all cases,and the white band through the vitreous in 2 eyes.Pathological examination showed that the retrolental membrane was mainly composed of loose or myxoid connective tissue fibers,the capillaries and small veins.PAS positive tissue,residual transparent artery and differentiated adipocytes were exhibited in some specimens.Immunohistochemistry indicated that spindle-shape cells in the retrolental membranes presented the characteristics of mesenchymal cells,and some cells appeared the myofibroblast characteristics with the low proliferation activity.The development of the lens and the ciliary body was abnormal because of the stretching of retrolental membranes into the lens capsule in 1 PHPV eye.The follow-up was performed for 6-9 years in 4 eyes,with the best corrected visual acuity (BCVA) for 0.06,light perception,0.05 and 0.07 respectively.The intraocular pressure was normal in all the eyes.Conclusions PHPV is usually misdiagnosed as congenital cataract and shows a poor postoperative BCVA.PHPV occurs mainly due to an incomplete regression of the embryonic vitreous and hyaloid vasculature and eventual abnormality of lens.

Wide-field fundus fluorescein angiogram assisted photocoagulation on familial exudative vitreoretinopathy / 中华眼底病杂志

Objective To observe the application value and therapeutic efficacy of wide-field digital pediatric retinal imaging system (Retcam Ⅲ) fundus fluorescein angiograms (FFA) assisted photocoagulation on familial exudative vitreoretinopathy (FEVR).Methods The study included 46 eyes of 34 patients with staging 2 FEVR.All patients received color fundus photography and FFA under general anesthesia.The blood vessel reliability of color fundus photography and FFA was comparatively determined.Binocular indirect ophthalmoscope laser photocoagulation was applied to peripheral retina with abnormal leakage as indicated by FFA,the wavelength was 532nm,the duration was 0.25 s and the energy was 200-280 mW.After laser photocoagulation,fundus imaging and FFA was repeated.Further laser photocoagulation was immediately added to areas with vessel leakage but missing the photocoagulation.After treatment,the mean follow-up duration was 14.4 months.The follow up focused on neovascularization,exudative lesions,vitreous traction and merging of photocoagulation spots within 3 months,and on fibrosis membrane resulting in macular traction,tractional retinal detachment,vitreous hemorrhage or Coats disease-like retinal exudates after 3 months.Results It was hard to identify the blood vessels based on the color fundus images and some avascular zone maybe missed.Neovascularization can't be determined by shape of the blood vessels.On the other hand,those new blood vessels can be easily recognized by FFA as leakage sites at the boundary of avascular zone.The surgeon could quickly and accurately locate the FEVR area guided by the color fundus images and FFA from same angle under binocular indirect ophthalmoscope.During the treatment,there was no retinal FEVR area missed laser photocoagulation for all patients.There was no neovascularization,exudative lesions,vitreous traction within 3 months,and no fibrosis membrane,tractional retinal detachment,vitreous hemorrhage or Coats disease-like retinal exudates after 3 months.There were no ocular and systemic complications during and after the FFA and laser photocoagulation.Conclusion Wide-field Retcam Ⅲ FFA can help retinal specialists to identify abnormal neovascularization,locate the lesion area,and thus increase the success rate of laser photocoagulation,reduce the ocular and systemic complications for FEVR.

Analysis of the influencing factors of surgical effect for neonatal severe complicated congenital heart disease / 中华胸心血管外科杂志

Objective To analyze the influencing factors of surgical management for neonatal complicated congenital heart disease(CCHD),sumarize the clinical experience and improve the surgical effect.Methods The clinical data of 154 neonates with complicated congenital heart disease who were undergone surgical management from August 2008 to August 2013 were retrospectively analysed.Results There were 14 cases of death with a mortality rate of 9.1％ (14/154),including 4 cases of preoperative death.The operative motality is 6.7％ (10/150),including 3 cases of single malformations(D-TGA/VSD,PA/VSD,IAA),and 7 cases of multiple malformation(HRHS/PS in 2,D-TGA/COA in 1,D-TAG/PS in 1,COA/SV in 1,SV/PA/IVS in 1 and D-TGA/COA/SV in 1).140 cases accepted regular follow-up after hospital discharge from 3 months to 5 years,8 of them underwent secondary surgery and all survived.Conclusion Timely diagnosis,actively improvement for preoperative internal environment,fine operative technique,individual cardiopulmonary bypass and intensive postoperative care are all important influencing factors of surgical effect for neonatal severe complicated congenital heart disease.

Changes of serum lipids in patients with Bietti crystalline dystrophy / 中华实验眼科杂志

Background Bietti crystalline dystrophy (BCD) is a congenital and autosomal recessive hereditary eye disease characterized by multiple glistening intraretinal crystals scattered over the fundus.Studies determined abnormality of fatty acid metabolism probably is associated with BCD.However,the study on the alteration of blood lipid level in BCD patients is rare.Objective This trail was to study the change of serum lipids in BCD patients.Methods A total of 50 patients with bilateral BCD and 50 matched healthy volunteers were included from November 2011 to March 2013 in Beijing Tongren Eye Center with the approval of Ethic Committee of Beijing Tongren Hospital.Written informed consent was obtained from each subject before any medial examination.Peripheral blood of 3 ml was collected from the subjects.The serum concentrations of triglyceride (TG),total cholesterol (TC),low density lipoprotein cholesterol (LDL-C) and high density lipoprotein cholesterol (HDL-C) were measured and analyzed.The examination outcome was identified based on the criteria of China Adult Dyslipidemia Prevention Guideline (Version 2007).Results Abnormality of serum lipid content was detected in 58.00％ patients (29/50),and hypertriglyceridemia and hypercholesteremia were in 34.48％ (10/29),respectively,and mixed hyperlipidaemia was in 27.59 ％ (8/29).The serum levels of TG,TC and LDL-C were (1.63± 1.19) mmol/L,(5.10±1.05) mmol/L and (3.27±0.97) mmol/L in the BCD group,which were significantly higher than (0.93± 0.33) mmol/L,(4.33 ±0.56) mmol/L,(2.63 ±0.51) mmol/L of the normal group (t =4.036,4.496,4.095,all at P=0.000).Conclusions The serum lipid levels elevate in BCD patients,which might be related to the occurrence of BCD.

Perioperative care of total anomalous pulmonary venous connection in newborns and babies within 6 months / 中华胸心血管外科杂志

Objective To summarize perioperative care and effect of surgical treatment of total anomalous pulmonary venous connection (TAPVC) in newborns and babies within 6 months.Methods From September 2001 to May 2013,ninetytwo consecutive patients with TAPVC received surgical correction under cardiopulmonary bypass (CPB) with moderate or deep hypothermia.The anatomic subtype included supracardiac type 48,intracardiac type 36,infracardiac type 6 and mixed type 2.There were 36 newboms.Pathological diagnosis was made by echocardiogram,computerized tomography and operative findings during operation.The option of procedure was determined by findings.Respirator assisted breathing after operation and cardiac function was maintained by a variety of positive inotropic drugs,to prevent the happening of the pulmonary hypertension crisis.Results Severely low cardiac output syndrome occurred in 8 patients and they died within 24 hours after operation.The remaining cases postoperative recover smoothly and receive postoperative follow-up about 1 month to 12 years,3 cases of postoperative pulmonary vein stenosis (PPVS) occurred.Conclusion Total anomalous pulmonary venous connection should be surgical treatment as soon as possible with satisfied effect.The key of perioperative care is maintenance of left heart function,negative balance of liquid,prevention and treatment of pulmonary hypertension.

Peritoneal dialysis in 30 infants and children with acute renal insufficiency after complex congenital heart disease surgery / 中华胸心血管外科杂志

Objective To analyse peritoneal dialysis(PD) in 30 infants and children with acute renal insufficiency after complex congenital heart disease surgery,sum up the clinical experience of PD therapy infants and children with acute renal insufficiency after complex congenital heart disease surgery.Methods The clinical records of 30 infants and children during January 2010 to June 2012 were analysed retrospectively,with 23 male and 7 female,aged from 7 days to 18 months[average (8.28 ± 5.17) months],weight 2.5-14 kg[average (5.15 ± 3.89) kg].The reasons for PD:7 cases because of oliguria (urine ＜ 1 ml · h-1 · kg-1,duration ＞ 4 h) and the other 23 cases because of anuria.Results One case with total anomalous pulmonary venous connection(TAPVC) died of left heart failure,1 case with transposition of the great arteries died of multiple organ failure,and the other 28 cases were all cured,cure rate 93.33％.Conclusion PD is easy,safe and low-cost,has definite curative effect in infants and children with acute renal insufficiency after complex congenital heart disease surgery,worth to popularize.

A modification of surgical procedure for infracardiac total anomalous pulmonary venous connection / 中华胸心血管外科杂志

Objective Infracardiac total anomalous pulmonary venous connection, a rare congenital cardiac defect, is associated with high mortality. A modification was designed for the procedure to reduce the post-operative obstruction in the pulmonary venous. Methods From September 2005 to December 2007, seven patients with infracardiac total anomalous pulmonary venous connection were treated with repair surgery through right side approach. The patients' age at operation was (70.57 ±44.67) days , the weight was (4.07 ±0.87) kg. Three patients had pulmonary venous obstruction, and 2 with small PFO. A modified right - side approach for repairing this defect was used. Results No death occurred after the operation. The postoperative complications included low cardiac output in 5 patients (71.43%), pulmonary hypertension crisis in 3patients ( 42.86% ) , mechanical ventilation for more than 7 days, which happened in 2 patients (28.58%) and pulmonary infection. All of the patients received follow-up. No residual shunt and pulmonary venous return obstruction were identified on echocardiogram(with a velocity from 1.2 m/s to 1.47 m/s). The heart function of patients was within the normal range(EF 0.70 -0.79, FS 0.32 -0.44). Conclusion The modified surgical procedure for the correction of infracardiac total anomalous pulmonary venous connection by right side approach was associated with favorite clinical outcomes, The post-operative outcomes depended on the size of anastomosis between the common vein and left atrium and the patency of the pulmonary venous return. Adequate size of anastomosis and maintenance of the spatial structures in adjacent regions were helpful in decreasing the adverse effect of postoperative obstruction.

Characteristics and diagnostic value of fundus fluorescein angiography for familial exudative vitreoretinopathy / 中华眼底病杂志

Objective To investigate the characteristics and diagnostic value of fundus fluorescein angiography(FFA)for familial exudative vitreoretinopathy(FEVR).Methods 34 children(68 eyes)with FEVR and 64 parents(1 28 eyes)were included.All the clients were received examinations of slit-lamp biomicroscopy and indirect ophthalmoscopy.Meanwhile the children were examined by Retcam Ⅱ,the best corrected visual acuity of parents were recorded.The children and their parents were classified according to the ocular findings.Among 68 eyes of children,3 eyes(4.41% )were normal,4 eyes(5.88% )were in stage 1,7 eyes(10.29% )were in stage 2,2 eyes(2.94% )were in stage 3,8 eyes(11.76% )were in stage 4 and 44 eyes(64.71% )were in stage 5.Among 128 eyes of parents,74 eyes(57.81% )were normal,51eyes(39.84% )were in stage 1,1 eyes(O.78% )were in stage 2 and 2 eyes(1.56% )were in stage 5.FFA was performed on the children with RetcamⅡunder anesthesia and on the parents with HR2 in order to observe the FFA characteristics in different stage.Results FFA characte ristics in children included uncompleted vascularization of the periphery,peripheral avascular zone(stage 1);neovascularization and/or peripheral subretinal and intraretinal exudation(stage 2);subtotal retinal detachment with attached foyea (stage 3);subtotal retinal detachment with detached foyea(stage 4)and total retinal detachment(stage 5).FFA characteristics in parents included abrupt cessation of the peripheral retinal capillary network and a peripheral avascular zone(stage 1); abnormal peripheral arteriovenous shunts, neovascularization or exudation(stage 2)and atrophia bulbi(stage 5).Conclusions FEVR in different stage has different FFA characteristics.FFA plays an important role in early diagnosis of FEVR.

Protective effects of sodium ferulate in vascular endothelial function during cardiopulmonary bypass / 中华胸心血管外科杂志

ObjectiveCardiopulmonary bypass (CPB) and its related ischemia reperfusion injury may cause endothelial cell injury.To study the protective effects of sodium ferulate in vascular endothelial function during CPB by testing the changes of vascular endothelial cell( CEC),nitric oxide( NO) and endothelin-1 ( ET-1 ) in children with congenital heart disease.MethodsSixty patients with congenital heart disease,including 28 males and 32 females were studied.The mean age was (19.7 ±10.4) months and body weight (10.5 ±6.1) kg.There were 37 VSD,8 ASD,7 TOF,5 TAPVC and 3 CAVC,among them 26 patients had pulmonary hypertension.They were randomly divided in to two groups:sodium ferulate group ( group S,n = 30),and control group ( group C,n =30) .Sodium ferulate (8 mg/kg) was given intravenously before CPB.Blood samples were taken from the arterial line at following time points:before CPB (TO),bypass 30 min(Tl ),the termination of CPB (T2 ),2h after operation ( T3 ) and 6h after operation ( T4 ),respectively for determination the concentration of vascular endothelial cell (CEC) in the blood,the concentration of nitric oxide (NO) and endothelin-1 ( ET-1) in the plasma.ResultsThere were no significant difference for the two groups regarding above parameters at TO ( P > 0.05).The level of CEC was significantly elevated after CPB in both groups ( P < 0.05 ) .CEC were lower at T2 in group S than in group C ( P < 0.05 ) .NO was decreased in both groups,but was higher in group S at T2,T3 and T4 ( P < 0.05 ) .The concentration of plasma ET-1 was not significantly different before CPB,but there was a slight decrease at T1,and then it was significantly increased in both groups (P<0.05).But it was lower in group S than in group C at T1,T2,T3 and T4(P<0.05 orP<0.01).ConclusionThere was severe endothelial cell damage during CPB.Sodium Ferulate can effectively antagonize the secretion of ET-1 to promote the formation of NO.Therefore,it reduces CPB-induced endothelial cell damage and protects vascular endothelial function during CPB.

Mudança de conduta cirúrgica motivada pela ecocardiografia transesofágica intraoperatória / Changes in surgical conduct due to the results of intraoperative transesophageal echocardiography / Cambio de conducta quirúrgica motivada por la ecocardiografía transesofágica intraoperatoria

JUSTIFICATIVA E OBJETIVOS: A utilização da ecocardiografia transesofágica (ETE) é de valor indiscutível em procedimentos cirúrgicos como valvoplastias, cirurgias da aorta torácica e correções de cardiopatias congênitas. Entre as grandes vantagens da utilização da ETE destacam-se a pouca invasividade do método e a capacidade de agregar informações que podem alterar o curso da cirurgia. O objetivo deste relato foi apresentar um caso onde a condução cirúrgica da paciente foi alterada em decorrência de novos diagnósticos feitos pela ecocardiografia transesofágica no intraoperatório e ressaltar a importância da utilização do eco transesofágico em cirurgias para correção de cardiopatia congênita. RELATO DO CASO: Paciente do sexo feminino, 28 anos, ASA II, com história de dispneia progressiva aos médios e depois pequenos esforços, veio encaminhada de outro serviço para correção cirúrgica eletiva de estenose da valva pulmonar diagnosticada pela ecocardiografia transtorácica. A ecocardiografia transesofágica intraoperatória evidenciou presença do forâmen oval patente, estenose infundibular da via de saída do ventrículo direito e comunicação interventricular (CIV) perimembranosa subaórtica medindo 0,4 cm com fluxo da esquerda para direita. Após a entrada da paciente em circulação extracorpórea foram confirmados os diagnósticos mencionados acima, e a cirurgia realizada incluiu o fechamento do forâmen oval e da CIV e a ressecção da estenose do infundíbulo. Não houve intercorrências cirúrgicas, e a paciente foi encaminhada intubada para a unidade de terapia intensiva. CONCLUSÕES: A ecocardiografia transesofágica em pacientes submetidos à correção de cardiopatia congênita é de extrema utilidade, pois, além de ajudar no manejo hemodinâmico do paciente, pode trazer novas informações, capazes de melhorar o resultado final da cirurgia.

BACKGROUND AND OBJECTIVES: Transesophageal echocardiography (TEE) is extremely useful in surgeries like valvuloplasty, of the thoracic aorta, and correction of congenital cardiopathies. The low degree of invasiveness and the capacity to aggregate information that can change the course of the surgery are among the advantages of TEE. The objective of this report was to present a case in which the surgical conduct was changed due to a new diagnosis provided by intraoperative transesophageal echocardiography, and to emphasize the importance of using the transesophageal echo in surgeries to correct congenital cardiopathies. CASE REPORT: A 28-year old female, ASA II, with a history of dyspnea progressing from medium to small efforts was referred by another department for elective surgical correction of stenosis of the pulmonary valve diagnosed by transthoracic echocardiography. Intraoperative transesophageal echocardiography showed patent foramen ovale, infundibular stenosis of the right ventricular outlet, and perimembranous subaortic interventricular communication (IVC) of 0.4 cm with left to right shunt. After beginning ECC, the above mentioned diagnoses were confirmed and the surgery included closure of the foramen ovale and IVC, and resection of the infundibular stenosis. Intraoperative intercurrences were not observed and the patient was intubated when she was transferred to the intensive care unit. CONCLUSIONS: Transesophageal echocardiography is extremely useful in patients undergoing surgical correction of congenital cardiopathies because, besides helping the hemodynamic management, it can provide new information capable of improving the final result of the surgery.

JUSTIFICATIVA Y OBJETIVOS: La utilización de la ecocardiografía transesofágica (ETE) es de un valor indiscutible en los procedimientos quirúrgicos como valvuloplastias, cirugías de la aorta torácica y correcciones de cardiopatías congénitas. Entre las grandes ventajas de la utilización de la ETE se destacan la poca invasión del método y la capacidad de agregar informaciones que pueden alterar el curso de la cirugía. El objetivo de este relato fue presentar un caso donde la conducción quirúrgica de la paciente fue alterada como consecuencia de nuevos diagnósticos detectados por la ecocardiografía transesofágica en el intraoperatorio y resaltar la importancia de la utilización del eco transesofágico en las cirugías para la corrección de la cardiopatía congénita. RELATO DEL CASO: Paciente del sexo femenino, 28 años, ASA II, con historial de disnea progresiva a los medios y después de pequeños esfuerzos. Llegó remitida de otro servicio para la corrección quirúrgica electiva de estenosis de la valva pulmonar diagnosticada por la ecocardiografía transtorácica. La ecocardiografía transesofágica intraoperatoria arrojó la presencia del foramen oval patente, estenosis infundibular de la vía de salida del ventrículo derecho y comunicación interventricular (CIV) perimembranosa subaórtica, midiendo 0,4 cm con flujo de la izquierda hacia la derecha. Después que la paciente entró en circulación extracorpórea, fueron confirmados los diagnósticos mencionados anteriormente y la cirugía realizada incluye el cierre del foramen oval y de la CIV, y la resección de la estenosis del infundíbulo. No se registraron intercurrencias quirúrgicas, y la paciente fue derivada, ya intubada, a la unidad de cuidados intensivos. CONCLUSIONES: La ecocardiografía transesofágica en pacientes sometidos a la corrección de cardiopatía congénita es de extrema utilidad, porque además de ayudar en el manejo hemodinámico del paciente, puede traer nuevas informaciones, capaces de...

Avaliação pulmonar em crianças portadoras de cardiopatia congênita acianótica e hiperfluxo pulmonar através de tomografia computadorizada / Evaluación pulmonar en niños portadores de cardiopatía congénita acianótica e hiperflujo pulmonar a través de tomografía computadorizada / Computed tomography in pulmonary evaluation of children with acyanotic congenital heart defect and pulmonary hyperflow

JUSTIFICATIVA E OBJETIVOS: Disfunção respiratória é frequente em crianças com cardiopatias congênitas acianóticas com hiperfluxo pulmonar (CCAHP), porém pouco é conhecido sobre a estrutura pulmonar destes pacientes. O objetivo deste estudo foi quantificar os volumes de gás e tecido e a distribuição da aeração pulmonar nesta população. MÉTODOS: Após aprovação do Comitê de Ética institucional e obtenção do consentimento escrito pós-informado, foram obtidas tomografias computadorizadas torácicas em sete crianças com CCAHF. As imagens pulmonares direita e esquerda foram contornadas em todas as imagens e os volumes e pesos pulmonares foram computados a partir dos dados volumétricos. As comparações entre esquerda e direita foram analisadas usando teste t de Student pareado e as correlações através de regressão exponencial. RESULTADOS: A idade mediana foi 20 meses e o peso foi de 9,9 kg. Volume pulmonar total (VPT) foi de 66,7 ± 23,1 mL.kg-1, o de tecido 33,5 ± 15,7 mL.kg-1 e o de gás 33,1 ± 8,3 mL.kg-1. O pulmão direito representou 57,9 por cento e o pulmão esquerdo 42,1 por cento do VPT (p < 0,001). O volume pulmonar de gás à direita foi 60,5 por cento do volume de gás total (p< 0,001) e a quantidade de parênquima pulmonar normalmente aerado foi significativamente menor à esquerda (27,6 ± 6,8 vs . 18,1 ± 8 por cento p < 0,001). CONCLUSÕES: As crianças portadoras de CCAHP apresentaram aumento no volume de tecido pulmonar maior que o esperado, possivelmente por edema intersticial. A aeração pulmonar está reduzida no pulmão esquerdo pela compressão imposta pelo coração ao pulmão subjacente.

BACKGROUND AND OBJECTIVES: Respiratory dysfunction is common in children with acyanotic congenital heart defects (ACHD) with pulmonary hyperflow; however, little is known about the pulmonary structure of those patients. The objective of this study was to quantify the volumes of air and tissue, as well as the distribution of pulmonary aeration in this population. METHODS: After approval by the Ethics Committee of the institution and signing of an informed consent, seven children with ACHD with pulmonary hyperflow underwent computed tomographies of the chest. All images included the left and right pulmonary contour, and pulmonary volumes and weight were calculated using volumetric data. Paired Student t test was used to compare left and right, and exponential regression was used for correlations. RESULTS: Patients had a mean age of 20 months and weight of 9.9 kg. Total pulmonary volume (TPV) was 66.7 ± 23.1 mL.kg-1, tissue volume of 33.5 ± 15.7 mL.kg-1, and air volume of 33.1 ± 8.3 mL.kg-1. The right lung represented 57.9 percent of TPV and the left, 42.1 percent (p < 0.001). The pulmonary volume of air on the right was 60.5 percent of the total air volume (p < 0.001), and the volume of pulmonary parenchyma normally aerated was significantly lower on the left (27.6 ± 6.8 vs . 18.1 ± 8 percent, p < 0.001). CONCLUSIONS: The volume of lung tissue was greater than expected in children with ACHD with pulmonary hyperflow, possibly due to interstitial edema. Pulmonary aeration is reduced in the left lung due to the compression of the lung by the heart.

JUSTIFICATIVA Y OBJETIVOS: La disfunción respiratoria es frecuente en niños con cardiopatías congénitas acianóticas con hiperflujo pulmonar (CCAHP), sin embargo, se conoce muy poco sobre la estructura pulmonar de esos pacientes. El objetivo de este estudio, fue cuantificar los volúmenes de gas y tejido y la distribución de la aeración pulmonar en esa población. MÉTODOS: Después de la aprobación por parte del Comité de Ética Institucional y de la obtención del consentimiento escrito informado, se obtuvieron tomografías computadorizadas torácicas en siete niños con CCAHF. Las imágenes pulmonares derecha e izquierda fueron perfiladas en todas las imágenes, y los volúmenes y los pesos pulmonares fueron computados a partir de los datos volumétricos. Las comparaciones entre izquierda y derecha fueron analizadas usando el test t de Student pareado y las correlaciones a través de regresión exponencial. RESULTADOS: La edad mediana fue de 20 meses y el peso fue de 9,9 kg. El volumen pulmonar total (VPT) 66,7 ± 23,1 mL.kg-1, y del tejido 33,5 ± 15,7 mL.kg-1 y el del gas 33,1 ± 8,3 mL.kg-1. El pulmón derecho representó un 57,9 por ciento y el pulmón izquierdo 42,1 por ciento del VPT (p < 0,001). El volumen pulmonar de gas a la derecha fue de un 60,5 por ciento del volumen de gas total (p < 0,001) y la cantidad de parénquima pulmonar normalmente aerado fue significativamente menor a la izquierda (27,6 ± 6,8 vs . 18,1 ± 8 por ciento, p < 0,001). CONCLUSIONES: Los niños portadores de CCAHP presentaron un aumento en el volumen de tejido pulmonar mayor que lo esperado, posiblemente por edema intersticial. La aeración pulmonar está reducida en el pulmón izquierdo por la compresión impuesta por el corazón al pulmón subyacente.

Anestesia em paciente com insensibilidade congênita a dor e anidrose / Anestesia en paciente con insensibilidad congénita al dolor y anhidrosis / Anesthesia in a patient with congenital insensitivity to pain and anhidrosis

JUSTIFICATIVA E OBJETIVOS: A insensibilidade congênita a dor e anidrose (ICDA) ou neuropatia hereditária sensorial e autonômica tipo IV (NHSA tipo IV) é neuropatia autossômica recessiva rara do grupo das neuropatias hereditárias sensoriais e autonômicas (NHSA), caracterizada por insensibilidade ao estímulo doloroso, anidrose e retardo mental. Existem poucos relatos sobre a conduta anestésica em pacientes com ICDA devido sua extrema raridade. O objetivo deste relato foi apresentar a conduta anestésica em paciente com ICDA submetida à artrodese de tornozelo esquerdo com colocação de haste e discutir as características de interesse para a anestesia nestes pacientes. RELATO DO CASO: Paciente com história de ICDA foi admitida para artrodese de tornozelo esquerdo devido à artropatia de Charcot. Na sala de operação foi monitorizada com eletrocardiógrafo, índice bispectral, SEF 95 por cento, pressão arterial não invasiva e saturação periférica da hemoglobina, medicada com midazolam como pré-anestésico e submetida à anestesia venosa com propofol e cisatracúrio. Não houve a necessidade de administração de analgésicos. Após intubação traqueal, foi acrescentada monitorização da pressão expiratória final do gás carbônico e da temperatura esofágica. Não apresentou complicações no período perioperatório. Teve alta hospitalar no segundo dia de pós-operatório. CONCLUSÕES: Embora apresentem insensibilidade à dor, alguns pacientes apresentam hiperestesia tátil, o que poderia causar sensações desagradáveis durante a manipulação cirúrgica. Apesar de relatos na literatura de pacientes submetidos a bloqueios no neuroeixo e até mesmo a procedimentos sem anestesia, neste caso utilizou-se a anestesia venosa que proporcionou condições adequadas para o procedimento anestésico-cirúrgico.

ACKGROUND AND OBJECTIVES: Congenital insensitivity to pain and Anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV (HSAN IV) is a rare autosomal recessive neuropathy of the group of hereditary sensory and autonomic neuropathies (HSAN) characterized by insensitivity to pain, anhidrosis, and mental retardation. Since it is a rare condition, reports on the anesthetic conduct in patients with CIPA are not easily found in the literature. The objective of this report was to present the anesthetic conduct in a patient with CIPA undergoing left ankle arthrodesis with placement of an implant, and to discuss the characteristics of this disorder that concern anesthesiologists the most. CASE REPORT: A female patient with a history of CIPA was admitted for left ankle arthrodesis due to Charcot arthropathy. In the operating room, the patient was monitored with an electrocardiograph, bispectral index, 95 percent SEF, non-invasive blood pressure, and peripheral hemoglobin saturation; she was pre-medicated with midazolam and underwent intravenous anesthesia with propofol and cisatracurium. The administration of analgesics was not necessary. After tracheal intubation, monitoring of end-expiratory pressure of carbon dioxide and esophageal temperature were added. The patient did not develop postoperative complications. She was discharged from the hospital on the second postoperative day. CONCLUSIONS: Although there is insensitivity to pain, some patients present tactile hyperesthesia that can cause unpleasant feelings during surgical manipulation. Despite reports in the literature of patients undergoing neuroaxis blocks, and even procedures without anesthesia, intravenous anesthesia, which provided adequate conditions for the anesthetic-surgical procedure was used in this case.

JUSTIFICATIVA Y OBJETIVOS: La falta de sensibilidad congénita al dolor y la anhidrosis (ICDA) o neuropatía hereditaria sensorial y autonómica tipo IV (NHSA tipo IV), es una neuropatía autosómica recesiva rara del grupo de las neuropatías hereditarias sensoriales y autonómicas (NHSA), caracterizada por la insensibilidad al estímulo doloroso, anhidrosis y retraso mental. Existen pocos relatos sobre la conducta anestésica en pacientes con ICDA, debido a su extrema raridad. El objetivo de este relato, fue presentar la conducta anestésica en paciente con ICDA sometida a la artrodesis de tobillo izquierdo con colocación de vástago y discutir las características de interés para la anestesia en esos pacientes. RELATO DEL CASO: Paciente con historial de ICDA que fue admitida para artrodesis de tobillo izquierdo debido a la artropatía de Charcot. En la sala de operación, fue monitorizada con electrocardiógrafo, índice bispectral, SEF 95 por ciento, presión arterial no invasiva y saturación periférica de la hemoglobina, y medicada con midazolam como preanestésico. Posteriormente fue sometida a anestesia venosa con propofol y cisatracurio. No hubo necesidad de administrar analgésicos. Después de la intubación traqueal, se le monitoreó la presión expiratoria final del gas carbónico y de la temperatura esofágica. No presentó complicaciones en el período perioperatorio. Obtuvo su alta al segundo día del postoperatorio. CONCLUSIONES: Aunque presenten insensibilidad al dolor, algunos pacientes debutan con hiperestesia táctil, lo que podría causar sensaciones desagradables durante la manipulación quirúrgica. A pesar de los relatos en la literatura de pacientes sometidos a bloqueos en el neuro eje, e incluso a procedimientos sin anestesia, en ese caso se usó la anestesia venosa, proporcionando condiciones adecuadas para el procedimiento anestésico-quirúrgico.

Anestesia para correção cirúrgica de blalock-taussig e implante de marca-passo em adulto portador de ventrículo único: relato de caso / Anesthesia for blalock-taussig shunt and pacemaker placement in an adult patient with univentricular heart: case report

JUSTIFICATIVA E OBJETIVOS: O ventrículo único é uma cardiopatia complexa rara e grave, sem possibilidade de tratamento cirúrgico curativo, associada à alta mortalidade durante a primeira infância. O objetivo desse artigo foi descrever um caso raro de paciente adulto com ventrículo único não-operado que se internou para realização de valvoplastia pulmonar via hemodinâmica e acabou sendo submetido à cirurgia de Blalock-Taussig modificado e implante de marca-passo epicárdico. Teve como objetivo complementar chamar a atenção para as particularidades anestésicas do paciente adulto portador de cardiopatia congênita não-corrigida. RELATO DO CASO: Paciente de 34 anos, 60 kg, portadora de cardiopatia congênita complexa tipo ventrículo único, estenose infundibulovalvar pulmonar importante e hipertensão pulmonar moderada. Admitida no hospital sem condições de correção cirúrgica e com história pregressa de várias sangrias terapêuticas para tratamento de policitemia. Foi internada devido a piora da hipoxemia, um episódio de síncope e bloqueio atrioventricular total (BAVT) de início recente. À internação apresentava estabilidade hemodinâmica, freqüência cardíaca de 42 bpm, SpO2 de 73 por cento, cianose central e de extremidades e pressão arterial de 120 × 70 mmHg. Foi proposta a realização de cateterismo e valvoplastia pulmonar via hemodinâmica. Por causa da impossibilidade de realização dessa técnica com sucesso, foi indicada a realização de cirurgia de Blalock-Taussig com implante de marca-passo. O procedimento foi realizado no dia seguinte sem intercorrências e a paciente teve alta hospitalar sete dias após o procedimento cirúrgico com SpO2 de 85 por cento, hematócrito de 49 por cento e melhora da dispnéia. CONCLUSÕES: O sucesso do procedimento anestésico para correção cirúrgica de cardiopatia congênita complexa demanda conhecimento da fisiopatologia da doença, bem como das particularidades inerentes à técnica anestésica utilizada.

BACKGROUND AND OBJECTIVES: Univentricular heart is a complex, rare, and severe cardiopathy, with no possibility of curative surgical treatment, associated with a high mortality in the first years of life. The objective of this article was to describe a rare case of an adult patient with uncorrected single ventricle who was admitted for pulmonary valvuloplasty but was submitted to a modified Blalock-Taussig and placement of an epicardic pacemaker. The complementary objective of this report was to address the anesthetic particularities of adult patients with uncorrected congenital cardiopathy. CASE REPORT: A 34 years old female patient, weighing 60 kg, with a complex congenital cardiopathy with a single ventricle, important infundibular pulmonary stenosis and moderate pulmonary hypertension was admitted to the hospital without conditions to undergo surgical correction. The patient had a history several therapeutic bleedings to treat polycythemia. She was admitted due to worsening hypoxemia, an episode of syncope, and recent onset of third degree atrioventricular block. On admission, the patient was hemodynamically stable, heart rate of 42 bpm, SpO2 73 percent, central cyanosis and cyanosis of the extremities, and blood pressure 120 × 70 mmHg. Cardiac catheterization and pulmonary valvuloplasty were proposed. Due to the impossibility of success of this technique, Blalock-Taussig procedure with placement of a pacemaker was indicated. The procedure was performed in the following day without intercurrences, and the patient was discharged 7 days after the surgery, with SpO2 85 percent, hematocrit 49 percent, and improvement of the dyspnea. CONCLUSIONS: The success of anesthesia for surgical correction of complex congenital cardiopathy requires knowledge on the pathophysiology of the disorder, as well as the particularities inherent to the anesthetic technique used.

JUSTIFICATIVA Y OBJETIVOS: El ventrículo único es una cardiopatía compleja, rara y grave sin posibilidad de tratamiento quirúrgico curativo, asociada a una alta mortalidad durante la primera infancia. El objetivo de este artículo fue el de describir un caso raro de paciente adulto con ventrículo único no operado que se internó para la realización de valvoplastia pulmonar vía hemodinámica y que terminó siendo sometido a la cirugía de Blalock-Taussig modificado e implante de marcapaso epicárdico. Tuvo como objetivo complementario destacar las particularidades anestésicas del paciente adulto portador de cardiopatía congénita no corregida. RELATO DEL CASO: Paciente de 34 años, 60 kg, portadora de cardiopatía congénita compleja tipo ventrículo único, estenosis infundíbulo valvar pulmonar importante e hipertensión pulmonar moderada. Admitida en el hospital sin condiciones de corrección quirúrgica y con historial anterior de varias sangrías terapéuticas para tratamiento de policitemía. Se le internó debido al empeoramiento de la hipoxemia, un episodio de síncope y bloqueo atrioventricular total (BAVT) de inicio reciente. En el momento de su internación presentaba estabilidad hemodinámica, frecuencia cardíaca de 42 lpm, SpO2 de 73 por ciento, cianosis central y de extremidades y presión arterial de 120 × 70 mmHg. Fue propuesta la realización de cateterismo y valvoplastía pulmonar vía hemodinámica. Debido a la imposibilidad de la realización de esa técnica con éxito, fue indicada la realización de cirugía de Blalock-Taussig con implante de marcapaso. El procedimiento fue realizado al día siguiente sin intercurrencias y la paciente tuvo alta hospitalaria 7 días después del procedimiento quirúrgico con SpO2 de 85 por ciento, hematócrito de 49 por ciento y mejoría de la disnea. CONCLUSIONES: El éxito del procedimiento anestésico para la corrección quirúrgica de cardiopatía congénita compleja exige el conocimiento de la fisiopatología de la ...

Clinical characters of congenital retinal vascular anomalies / 中华眼底病杂志

Objective To detect the clinical characters and the classification of the congenital retinal vascular anomalies. Methods Nine cases (12 eyes) of congenital retinal vascular anomalies were exa- mined by ocular examination and fundus fluorescein angiography (FFA), in which 3 cases (4 eyes) were examined by indocyanine green angiography (ICGA) simultaneously. Results The congenital retinal vascular anomalies were located at the posterior pole in 8 cases (10 eyes), and extended to peripheral retina in 1 case (2 eyes). Congenital retinal vascular anomalies were classified as follows: congenital retinal macrovessel (1 case, 1 eye); congenital retinal arteriolar tortuosity (2 cases, 3 eyes); inherited retinal venous beading (1 case, 2 eyes); and congenital prepapillary vascular loops (5 cases, 6 eyes). Four cases (5 eyes) were associated with spontaneous hemorrhage induced by physical exertion (Valsalva maneuver). Conclusion Most of the congenital retinal anomalies are located at the posterior pole, involving arteries and veins, and can be associated with spontaneous hemorrhage induced by Valsalva maneuver.

Identification of mutation of the X-linked juvenile retinoschisis gene / 中华眼底病杂志

Objective To analyze the pathogenesy and mutation of X-linked juvenile retinoschisis (XLRS) 1 gene in XLRS families, and to provide the theory basis in directing gene diagnosis. Methods The mutation of XLRS1 gene code in two XLRS families were detected and screened by polymerase chain reaction (PCR) and DNA direct sequence determination. Results Pro193Ser mutation was detected in family 1. Conclusion Pro193Ser mutation could be found in XLRS families, which can be used for genetic consultation and prenatal gene diagnosis.