BACKGROUND Congenital sideroblastic anemia(CSA)is a rare and heterogeneous group of genetic disorders.Conventional treatment include pyridoxine(vitamin B6)and allogeneic hematopoietic stem cell transplantation(allo-HS...BACKGROUND Congenital sideroblastic anemia(CSA)is a rare and heterogeneous group of genetic disorders.Conventional treatment include pyridoxine(vitamin B6)and allogeneic hematopoietic stem cell transplantation(allo-HSCT),and can alleviate anemia in the majority of cases.Nevertheless,some CSA cases remain unresponsive to pyridoxine or are unable to undergo allo-HSCT.Novel management approaches is necessary to be developed.To explore the response of luspatercept in treating congenital sideroblastic anemia.CASE SUMMARY We share our experience in luspatercept in a 4-year-old male patient with CSA.Luspatercept was administered subcutaneously at doses of 1.0 mg/kg/dose to 1.25 mg/kg/dose every 3 wk,three consecutive doses,evaluating the hematological response.Luspatercept leading to a significant improvement in the patient's anemia.The median hemoglobin during the overall treatment with three doses of luspatercept was 90(75-101)g/L,the median absolute reticulocyte count was 0.0593(0.0277-0.1030)×10^(12)/L,the median serum ferritin was 304.3(234.4-399)ng/mL,and the median lifespan of mature red blood cells was 80(57-92)days.Notably,no adverse reactions,such as headaches,dizziness,vomiting,joint pain,or back pain,were observed during the treatment period.CONCLUSION We believe that luspatercept might emerge as a viable therapeutic option for the maintenance treatment of CSA or as a bridging treatment option before hematopoietic stem cell transplantation.展开更多
The congenital dyserythropoietic anemias comprise a group of rare hereditary disorders of erythropoiesis, characterized by ineffective erythropoiesis as the predominant mechanism of anemia and by characteristic morpho...The congenital dyserythropoietic anemias comprise a group of rare hereditary disorders of erythropoiesis, characterized by ineffective erythropoiesis as the predominant mechanism of anemia and by characteristic morphological aberrations of the majority of erythroblasts in the bone marrow. Congenital dyserythropoietic anemia type II is the most frequent type. All types of congenital dyserythropoietic anemias distinctly share a high incidence of iron loading. Iron accumulation occurs even in untransfused patients and can result in heart failure and liver cirrhosis. We have reported about a patient who presented with liver cirrhosis and intractable ascites caused by congenital dyserythropoietic anemia type II. Her clinical course was further complicated by the development of autoimmune hemolytic anemia. Splenectomy was eventually performed which achieved complete resolution of ascites, increase of hemoglobin concentration and abrogation of transfusion requirements.展开更多
AIM: To clarify the incidence of congenital hemolytic anemias (CHA) in young cholelithiasis patients and to determine a possible screening test based on the results. METHODS: Young cholelithiasis patients (< 35 yea...AIM: To clarify the incidence of congenital hemolytic anemias (CHA) in young cholelithiasis patients and to determine a possible screening test based on the results. METHODS: Young cholelithiasis patients (< 35 years) were invited to our outpatient clinic. Participants were asked for comorbidities and family history. The number of gallstones were recorded. Blood samples were obtained to perform a complete blood count, standard Wright-Giemsa staining, reticulocyte count, hemoglobin (Hb) electrophoresis, serum lactate dehydrogenase and bilirubin levels, and lipid profile. RESULTS: Of 3226 cholecystectomy patients, 199 were under 35 years, and 190 with no diagnosis of CHA were invited to take part in the study. Fifty three patients consented to the study. The median age was 29 years (range, 17-35 years), 5 were male and 48 were female. Twelve patients (22.6%) were diagnosed as thalassemia trait and/or ?ron-deficiency anemia. Hblevels were significantly lower (P = 0.046), and mean corpuscular volume (MCV) and hematocrit levels were slightly lower (P = 0.072 and 0.082, respectively) than normal. There was also a significantly lower number of gallstones with the diagnosis (P = 0.007). CONCLUSION: In endemic regions, for young cholelithiasis patients (age under 35) with 2-5 gallstones, the clinician/surgeon should pay attention to MCV and Hb levels as indicative of CHA.展开更多
BACKGROUND Congenital dyserythropoietic anemia type 1(CDA1)is an autosomal recessive disorder of ineffective erythropoiesis,resulting in increased iron storage.CDA1 is usually diagnosed in children and adolescents but...BACKGROUND Congenital dyserythropoietic anemia type 1(CDA1)is an autosomal recessive disorder of ineffective erythropoiesis,resulting in increased iron storage.CDA1 is usually diagnosed in children and adolescents but can rarely present in the neonatal period with severe anemia at birth.There are no prior reports of neonatal liver histologic findings of CDA1.We report a case of CDA1 in a newborn presenting with severe anemia,cholestasis and liver failure,where liver biopsy helped confirm the diagnosis.CASE SUMMARY A term infant,born via emergency Cesarean section,presented with cholestasis,hepatosplenomegaly,multiorgan failure and severe anemia at birth.A prior pregnancy was significant for fetal demise at 35 wk without autopsy or known etiology for the fetal demise.Parents are both healthy and there is no history of consanguinity.On further evaluation,the patient was found to have severe ferritin elevation and pulmonary hypertension.An extensive infectious and metabolic work-up was negative.Salivary gland biopsy was negative for iron deposition.At 2 wk of age,a liver biopsy showed findings consistent with CDA1.A genome rapid sequencing panel revealed novel variants in the CDAN1 gene.The patient’s liver dysfunction,cholestasis and organomegaly resolved,however she remains transfusion-dependent.CONCLUSION We report liver pathology findings of CDA1 with a novel genetic mutation for the first time in a newborn.展开更多
Peripheral cisternae and double membranes(PCDMs)in erythroid cells are a landmark of typeⅡcongenital dyserythropoietic anemia(CDA).To gain further insights into the mechanism of dyserythropoiesis,erythroblasts and er...Peripheral cisternae and double membranes(PCDMs)in erythroid cells are a landmark of typeⅡcongenital dyserythropoietic anemia(CDA).To gain further insights into the mechanism of dyserythropoiesis,erythroblasts and erythrocytes in bone marrow were studied in 22 Chinese patients with CDAⅡby transmission electron microscopy.The study demonstrated an increase in all patients in erythroblasts with PCDMs with development from pro-erythroblast to red blood cells.PCDMs often connected with cisternae of endoplasmic reticulum(ER)and the perinuclear space,and were accompanied by karyopyknosis,karyolysis and disruption in polychromatic and orthochromatic erythroblasts.The results suggest that PCDMs are transformed from ER during erythropoiesis and participate in the dissolution and deletion of late erythroid cells in patients with CDAⅡ.展开更多
Objective:This study aimed to analyze and evaluate the results of mid-term follow-up after fetal pulmonary valvuloplasty(FPV)in fetuses with pulmonary atresia with intact ventricular septum(PA/IVS).Methods:From August...Objective:This study aimed to analyze and evaluate the results of mid-term follow-up after fetal pulmonary valvuloplasty(FPV)in fetuses with pulmonary atresia with intact ventricular septum(PA/IVS).Methods:From August 31,2018,to May 31,2019,seven fetuses with PA/IVS and hypoplastic right heart were included in this study.All underwent echocardiography by the same specialist and were operated on by the same team.Intervention and echocardiography data were collected,and changes in the associated indices noted during follow-up were analyzed.Results:All seven fetuses successfully underwent FPV.The median gestational age at FPV was 27.54 weeks.The average FPV procedural time was 6 min.Persistent bradycardia requiring treatment occurred in 4/7 procedures.Finally,five pregnancies were successfully delivered,and the other two were aborted.Compared to data before fetal cardiac interventions(FCI),tricuspid valve annulus diameter/mitral valve annulus diameter(TV/MV)and right ventricle diameter/left ventricle diameter(RV/LV)of all fetuses had progressively improved.The maximum tricuspid regurgitation velocity decreased from 4.60 m/s to 3.64 m/s.The average follow-up time was 30.40±2.05 months.During the follow-up period,the diameter of the tricuspid valve ring in five children continued to improve,and the development rate of the tricuspid valve was relatively obvious from 6 months to 1 year after birth.However,the development of the right ventricle after birth was relatively slow.It was discovered that there were individual variations in the development of the right ventricle during follow-up.Conclusion:The findings support the potential for the development of the right ventricle and tricuspid valve in fetuses with PA/IVS who underwent FCI.Development of the right ventricle and tricuspid valve does not occur synchronously during pregnancy.The right ventricle develops rapidly in utero,but the development of tricuspid valve is more apparent after birth than in utero.展开更多
To the Editor:Congenital hemolytic anemia (CHA) can be caused by the defect of any component in red blood cell (RBC),including hemoglobinopathies,membrane and cytoskeleton defects,and metabolic enzymopathies etc.And i...To the Editor:Congenital hemolytic anemia (CHA) can be caused by the defect of any component in red blood cell (RBC),including hemoglobinopathies,membrane and cytoskeleton defects,and metabolic enzymopathies etc.And it is characterized by early present normocytic/macrocytic anemia,reticulocytosis,and elevated unconju-gated bilirubin.展开更多
Background:Fetal balloon atrial septoplasty(BAS)is performed through the restrictive foramen ovale in fetal cases with established hypoplastic left heart syndrome(HLHS)and an intact or highly restrictive atrial septum...Background:Fetal balloon atrial septoplasty(BAS)is performed through the restrictive foramen ovale in fetal cases with established hypoplastic left heart syndrome(HLHS)and an intact or highly restrictive atrial septum(RAS).Methods:In the current report,we present a case of high position BAS in a fetus with HLHS/RAS.Results:Echocardiography confirmed an adequate atrial opening above the foramen ovale and fetal pleural effusion resolved spontaneously 1 day after the procedure.Conclusion:To the best of our knowledge,the creation of a high position hole in the thinner part of the atrial septum,instead of the restrictive tiny hole,has not been reported in fetal cases with HLHS/RAS.展开更多
BACKGROUND Unilateral small-sized kidney is a radiological term referring to both the congenital and acquired causes of reduced kidney volume.However,the hypoplastic kidney may have peculiar clinical and radiological ...BACKGROUND Unilateral small-sized kidney is a radiological term referring to both the congenital and acquired causes of reduced kidney volume.However,the hypoplastic kidney may have peculiar clinical and radiological characterizations.AIM To evaluate the clinical presentations,complications,and management approaches of the radiologically diagnosed unilateral hypoplastic kidney.METHODS A retrospective review of the records of patients with a radiological diagnosis of unilateral hypoplastic kidney between July 2015 and June 2020 was done at Assiut Urology and Nephrology Hospital,Assiut University,Egypt.RESULTS A total of 33 cases were diagnosed to have unilateral hypoplastic kidney with a mean(range)age of 39.5±11.2(19-73)years.The main clinical presentation was loin pain(51.5%),stone passer(9.1%),anuria(12.1%),accidental discovery(15.2%),or manifestations of urinary tract infections(12.1%).Computed tomography was the most useful tool for radiological diagnosis.However,radioisotope scanning could be requested for verification of surgical interventions and nephrectomy decisions.Urolithiasis occurred in 23(69.7%)cases and pyuria was detected in 22(66.7%)cases where the infection was documented by culture and sensitivity test in 19 cases.While the non-complicated cases were managed by assurance only(12.1%),nephrectomy(15.2%)was performed for persistent complications.However,symptomatic(27.3%)and endoscopic(45.6%)approaches were used for the management of correctable complications.CONCLUSION Unilateral hypoplastic kidney in adults has various complications that range from urinary tract infections to death from septicemia.Diagnosis is mainly radiological and management is usually conservative or minimally invasive.展开更多
BACKGROUND Aortic arch stenting is continuously emerging as a safe and effective option to alleviate aortic arch stenosis and arterial hypertension.CASE SUMMARY We present a 15-year-old girl with aortic arch hypoplasi...BACKGROUND Aortic arch stenting is continuously emerging as a safe and effective option to alleviate aortic arch stenosis and arterial hypertension.CASE SUMMARY We present a 15-year-old girl with aortic arch hypoplasia who had undergone implantation of an uncovered 22 mm Cheatham-Platinum stent due to severe(native)aortic arch stenosis.On follow-up seven months later,she presented a significant re-stenosis of the aortic arch.A second stent(LD Max 26 mm)was implanted and both stents were dilated up to 16 mm.After an initially unremarkable post-interventional course,the patient presented with hoarseness five days after the intervention.MRI and CT scans ruled out an intracranial pathology,as well as thoracic hematoma,arterial dissection,and aneurysm around the intervention site.Laryngoscopy confirmed left vocal fold paresis attributable to an injury to the left recurrent laryngeal nerve(LRLN)during aortic arch stenting,as the nerve loops around the aortic arch in close proximity to the area of the implanted stents.Following a non-invasive therapeutic approach entailing regular speech therapy,the patient recovered and demonstrated no residual clinical symptoms of LRLN palsy after six months.CONCLUSION Left recurrent laryngeal nerve palsy is a rare complication of aortic arch stenting not previously reported.展开更多
Background: The primary concern of the Fontan procedure has been atrial arrhythmias, but little attention has been given to hemodynamic changes. This study’s purpose was to examine the hemodynamics and arrhythmias of...Background: The primary concern of the Fontan procedure has been atrial arrhythmias, but little attention has been given to hemodynamic changes. This study’s purpose was to examine the hemodynamics and arrhythmias of the Intra/extracardiac fenestrated Fontan, and determine any advantages/disadvantages of this newer Fontan procedure. Methods: Patients undergoing the intra/ extracardiac fenestrated Fontan procedure at this institute between December 2009 and June 2017 were included in this retrospective evaluation of preoperative and postoperative hemodynamics during cardiac catheterization. End Diastolic Pressure (EDP), Pulmonary Artery Pressure (PAP), Left Atrial Pressure (LAP), and Transpulmonary Gradient (TPG) were the hemodynamic markers of interest. Occurrence of arrhythmias was also examined preoperatively, less than 2 weeks postoperatively, and greater than 2 weeks postoperatively. Morbidities and mortalities were also evaluated. Results: Fourteen patients underwent the procedure between December 2009 and June 2017. Preoperative data was available in all of these patients. Postoperative data was partially incomplete for atrial arrhythmias and hemodynamic data. EDP rose from 9.29 ± 3.50 mmHg to 10.33 ± 3.12 mmHg. PAP rose from 12.57 ± 2.50 mmHg to 14.27 mmHg. TPG dropped from 5.00 ± 2.29 mmHg to 3.25 ± 1.67 mmHg. LAP rose from 7.57 ± 2.87 mmHg to 10.30 ± 1.95 mmHg. Atrioventricular valve (AVV) regurgitation remained the same pre and postoperatively. 8 of 13 patients developed arrhythmias at less than 2 weeks postoperatively, and 5 of 12 patients developed arrhythmias at greater than 2 weeks postoperatively. There were no morbidities or mortalities. Conclusions: We found a statistically significant change in EDP, PAP, LAP, and TPG levels. It is unclear whether this is an advantage or disadvantage. The significance of these changes is unclear in this small population of patients. Further evaluation of hemodynamics, arrhythmias, morbidities and mortalities associated with the intra/extracardiac Fontan procedure is needed.展开更多
Background:Still little is known about the impact on right ventricle function of the 2 main approaches to Norwood palliation in Hypoplastic left heart syndrome,the right ventricle-pulmonary artery shunt(RVPAS)and the ...Background:Still little is known about the impact on right ventricle function of the 2 main approaches to Norwood palliation in Hypoplastic left heart syndrome,the right ventricle-pulmonary artery shunt(RVPAS)and the modified Blalock-Taussig shunt(mBTS).Methods:The cohort included 27 patients with Hypoplastic left heart syndrome(10 in the mBTS group,17 in the RVPAS group).Longitudinal strain,tricuspid annulus peak systolic excursion and fractional area change were evaluated before Norwood and in four different breakpoints in the steady-state after Norwood procedure(30-days,90-days,140-days and 200-days after Norwood).Results:No significant differences were found in all standard echocardiographic functional parameters between the two groups at any times.However,when we compared right ventricle function before and after Norwood procedure,longitudinal strain significantly improved in mBTS group compared to pre-surgical assessment(after 90-days:mBTS+27,35%±43,47 vs.RVPAS-8,20%±25,25,p=0,03;after 200-days:mBTS+10.19%±36.58 vs.RVPAS-21.64%±30.43,p=0.04).Conclusion:The mBTS group,which did not receive any ventriculotomy,showed a significant increase in right ventricle longitudinal strain during convalescence.These data support the use of longitudinal strain in Hypoplastic left heart syndrome evaluation and may suggest potential value in terms of cardiac mechanics in using mBTS,preserving the right ventricle integrity.展开更多
57 cases with G6PD deficiency and 62 with normal G6PD activities as controls in Chonghua County, Guangdong Province were examined in the respects of visual acuity, color vision, corneal sensitivity, lens, vitreous and...57 cases with G6PD deficiency and 62 with normal G6PD activities as controls in Chonghua County, Guangdong Province were examined in the respects of visual acuity, color vision, corneal sensitivity, lens, vitreous and fundus.The results showed that the incidences of congenital lenticular opacities and congenital color blindness in G6PD deficiency group were higher than those in the controls. However,there were no findings such as pale conjunctiva, sallow sclera, pallor papillae and macular edema, which could be seen frequently in patients with favism. The hemoglobin values of all the cases were within normal range, which indicated that the subjects with G6PD deficiency usually didn’t manifest hemolysis but only had a hereditary susceptibility, and the ocular findings in favism might result from hemolytic anemia, tissue anoxia and unknown toxic substances from vicia faba.展开更多
目的总结Ⅰ期Norwood手术围术期处理的经验。方法2004年7月～2006年3月,应用Ⅰ期Norwood手术治疗3例患左心发育不全综合征(hypoplastic left heart syndrome,HLHS)及单心室合并左心流出道梗阻的患婴。第1例行升主动脉与主肺动脉侧侧吻合...目的总结Ⅰ期Norwood手术围术期处理的经验。方法2004年7月～2006年3月,应用Ⅰ期Norwood手术治疗3例患左心发育不全综合征(hypoplastic left heart syndrome,HLHS)及单心室合并左心流出道梗阻的患婴。第1例行升主动脉与主肺动脉侧侧吻合,体-肺分流重建肺循环血流;第2例利用主肺动脉重建升主动脉以及弓部,Core-Tex人造血管连接右心室和肺动脉(Sano Shunt术式)重建肺循环血流;第3例同样应用Sano Shunt术式重建肺循环血流。结果前2例手术取得成功,随访24～34个月,两例均已成功进行Ⅱ期Norwood手术,心功能Ⅰ～Ⅱ级;第3例术后早期死亡,死因是重度低心输出量综合征。结论Norwood手术是治疗左心发育不全综合征和单心室合并左心流出道梗阻疾病的有效治疗方法之一,选择适当的手术方式和术前、术后维持体-肺循环动态平衡是取得良好手术疗效的关键。展开更多
基金National Natural Science Foundation of China,No.81890992.
文摘BACKGROUND Congenital sideroblastic anemia(CSA)is a rare and heterogeneous group of genetic disorders.Conventional treatment include pyridoxine(vitamin B6)and allogeneic hematopoietic stem cell transplantation(allo-HSCT),and can alleviate anemia in the majority of cases.Nevertheless,some CSA cases remain unresponsive to pyridoxine or are unable to undergo allo-HSCT.Novel management approaches is necessary to be developed.To explore the response of luspatercept in treating congenital sideroblastic anemia.CASE SUMMARY We share our experience in luspatercept in a 4-year-old male patient with CSA.Luspatercept was administered subcutaneously at doses of 1.0 mg/kg/dose to 1.25 mg/kg/dose every 3 wk,three consecutive doses,evaluating the hematological response.Luspatercept leading to a significant improvement in the patient's anemia.The median hemoglobin during the overall treatment with three doses of luspatercept was 90(75-101)g/L,the median absolute reticulocyte count was 0.0593(0.0277-0.1030)×10^(12)/L,the median serum ferritin was 304.3(234.4-399)ng/mL,and the median lifespan of mature red blood cells was 80(57-92)days.Notably,no adverse reactions,such as headaches,dizziness,vomiting,joint pain,or back pain,were observed during the treatment period.CONCLUSION We believe that luspatercept might emerge as a viable therapeutic option for the maintenance treatment of CSA or as a bridging treatment option before hematopoietic stem cell transplantation.
文摘The congenital dyserythropoietic anemias comprise a group of rare hereditary disorders of erythropoiesis, characterized by ineffective erythropoiesis as the predominant mechanism of anemia and by characteristic morphological aberrations of the majority of erythroblasts in the bone marrow. Congenital dyserythropoietic anemia type II is the most frequent type. All types of congenital dyserythropoietic anemias distinctly share a high incidence of iron loading. Iron accumulation occurs even in untransfused patients and can result in heart failure and liver cirrhosis. We have reported about a patient who presented with liver cirrhosis and intractable ascites caused by congenital dyserythropoietic anemia type II. Her clinical course was further complicated by the development of autoimmune hemolytic anemia. Splenectomy was eventually performed which achieved complete resolution of ascites, increase of hemoglobin concentration and abrogation of transfusion requirements.
文摘AIM: To clarify the incidence of congenital hemolytic anemias (CHA) in young cholelithiasis patients and to determine a possible screening test based on the results. METHODS: Young cholelithiasis patients (< 35 years) were invited to our outpatient clinic. Participants were asked for comorbidities and family history. The number of gallstones were recorded. Blood samples were obtained to perform a complete blood count, standard Wright-Giemsa staining, reticulocyte count, hemoglobin (Hb) electrophoresis, serum lactate dehydrogenase and bilirubin levels, and lipid profile. RESULTS: Of 3226 cholecystectomy patients, 199 were under 35 years, and 190 with no diagnosis of CHA were invited to take part in the study. Fifty three patients consented to the study. The median age was 29 years (range, 17-35 years), 5 were male and 48 were female. Twelve patients (22.6%) were diagnosed as thalassemia trait and/or ?ron-deficiency anemia. Hblevels were significantly lower (P = 0.046), and mean corpuscular volume (MCV) and hematocrit levels were slightly lower (P = 0.072 and 0.082, respectively) than normal. There was also a significantly lower number of gallstones with the diagnosis (P = 0.007). CONCLUSION: In endemic regions, for young cholelithiasis patients (age under 35) with 2-5 gallstones, the clinician/surgeon should pay attention to MCV and Hb levels as indicative of CHA.
文摘BACKGROUND Congenital dyserythropoietic anemia type 1(CDA1)is an autosomal recessive disorder of ineffective erythropoiesis,resulting in increased iron storage.CDA1 is usually diagnosed in children and adolescents but can rarely present in the neonatal period with severe anemia at birth.There are no prior reports of neonatal liver histologic findings of CDA1.We report a case of CDA1 in a newborn presenting with severe anemia,cholestasis and liver failure,where liver biopsy helped confirm the diagnosis.CASE SUMMARY A term infant,born via emergency Cesarean section,presented with cholestasis,hepatosplenomegaly,multiorgan failure and severe anemia at birth.A prior pregnancy was significant for fetal demise at 35 wk without autopsy or known etiology for the fetal demise.Parents are both healthy and there is no history of consanguinity.On further evaluation,the patient was found to have severe ferritin elevation and pulmonary hypertension.An extensive infectious and metabolic work-up was negative.Salivary gland biopsy was negative for iron deposition.At 2 wk of age,a liver biopsy showed findings consistent with CDA1.A genome rapid sequencing panel revealed novel variants in the CDAN1 gene.The patient’s liver dysfunction,cholestasis and organomegaly resolved,however she remains transfusion-dependent.CONCLUSION We report liver pathology findings of CDA1 with a novel genetic mutation for the first time in a newborn.
文摘Peripheral cisternae and double membranes(PCDMs)in erythroid cells are a landmark of typeⅡcongenital dyserythropoietic anemia(CDA).To gain further insights into the mechanism of dyserythropoiesis,erythroblasts and erythrocytes in bone marrow were studied in 22 Chinese patients with CDAⅡby transmission electron microscopy.The study demonstrated an increase in all patients in erythroblasts with PCDMs with development from pro-erythroblast to red blood cells.PCDMs often connected with cisternae of endoplasmic reticulum(ER)and the perinuclear space,and were accompanied by karyopyknosis,karyolysis and disruption in polychromatic and orthochromatic erythroblasts.The results suggest that PCDMs are transformed from ER during erythropoiesis and participate in the dissolution and deletion of late erythroid cells in patients with CDAⅡ.
文摘Objective:This study aimed to analyze and evaluate the results of mid-term follow-up after fetal pulmonary valvuloplasty(FPV)in fetuses with pulmonary atresia with intact ventricular septum(PA/IVS).Methods:From August 31,2018,to May 31,2019,seven fetuses with PA/IVS and hypoplastic right heart were included in this study.All underwent echocardiography by the same specialist and were operated on by the same team.Intervention and echocardiography data were collected,and changes in the associated indices noted during follow-up were analyzed.Results:All seven fetuses successfully underwent FPV.The median gestational age at FPV was 27.54 weeks.The average FPV procedural time was 6 min.Persistent bradycardia requiring treatment occurred in 4/7 procedures.Finally,five pregnancies were successfully delivered,and the other two were aborted.Compared to data before fetal cardiac interventions(FCI),tricuspid valve annulus diameter/mitral valve annulus diameter(TV/MV)and right ventricle diameter/left ventricle diameter(RV/LV)of all fetuses had progressively improved.The maximum tricuspid regurgitation velocity decreased from 4.60 m/s to 3.64 m/s.The average follow-up time was 30.40±2.05 months.During the follow-up period,the diameter of the tricuspid valve ring in five children continued to improve,and the development rate of the tricuspid valve was relatively obvious from 6 months to 1 year after birth.However,the development of the right ventricle after birth was relatively slow.It was discovered that there were individual variations in the development of the right ventricle during follow-up.Conclusion:The findings support the potential for the development of the right ventricle and tricuspid valve in fetuses with PA/IVS who underwent FCI.Development of the right ventricle and tricuspid valve does not occur synchronously during pregnancy.The right ventricle develops rapidly in utero,but the development of tricuspid valve is more apparent after birth than in utero.
文摘To the Editor:Congenital hemolytic anemia (CHA) can be caused by the defect of any component in red blood cell (RBC),including hemoglobinopathies,membrane and cytoskeleton defects,and metabolic enzymopathies etc.And it is characterized by early present normocytic/macrocytic anemia,reticulocytosis,and elevated unconju-gated bilirubin.
基金supported by grants from National Natural Science Foundation of China(NO 81770316)Mount Tai Scholarship ProjectQingdao Outstanding Health Professional Development Fund(2017)
文摘Background:Fetal balloon atrial septoplasty(BAS)is performed through the restrictive foramen ovale in fetal cases with established hypoplastic left heart syndrome(HLHS)and an intact or highly restrictive atrial septum(RAS).Methods:In the current report,we present a case of high position BAS in a fetus with HLHS/RAS.Results:Echocardiography confirmed an adequate atrial opening above the foramen ovale and fetal pleural effusion resolved spontaneously 1 day after the procedure.Conclusion:To the best of our knowledge,the creation of a high position hole in the thinner part of the atrial septum,instead of the restrictive tiny hole,has not been reported in fetal cases with HLHS/RAS.
文摘BACKGROUND Unilateral small-sized kidney is a radiological term referring to both the congenital and acquired causes of reduced kidney volume.However,the hypoplastic kidney may have peculiar clinical and radiological characterizations.AIM To evaluate the clinical presentations,complications,and management approaches of the radiologically diagnosed unilateral hypoplastic kidney.METHODS A retrospective review of the records of patients with a radiological diagnosis of unilateral hypoplastic kidney between July 2015 and June 2020 was done at Assiut Urology and Nephrology Hospital,Assiut University,Egypt.RESULTS A total of 33 cases were diagnosed to have unilateral hypoplastic kidney with a mean(range)age of 39.5±11.2(19-73)years.The main clinical presentation was loin pain(51.5%),stone passer(9.1%),anuria(12.1%),accidental discovery(15.2%),or manifestations of urinary tract infections(12.1%).Computed tomography was the most useful tool for radiological diagnosis.However,radioisotope scanning could be requested for verification of surgical interventions and nephrectomy decisions.Urolithiasis occurred in 23(69.7%)cases and pyuria was detected in 22(66.7%)cases where the infection was documented by culture and sensitivity test in 19 cases.While the non-complicated cases were managed by assurance only(12.1%),nephrectomy(15.2%)was performed for persistent complications.However,symptomatic(27.3%)and endoscopic(45.6%)approaches were used for the management of correctable complications.CONCLUSION Unilateral hypoplastic kidney in adults has various complications that range from urinary tract infections to death from septicemia.Diagnosis is mainly radiological and management is usually conservative or minimally invasive.
文摘BACKGROUND Aortic arch stenting is continuously emerging as a safe and effective option to alleviate aortic arch stenosis and arterial hypertension.CASE SUMMARY We present a 15-year-old girl with aortic arch hypoplasia who had undergone implantation of an uncovered 22 mm Cheatham-Platinum stent due to severe(native)aortic arch stenosis.On follow-up seven months later,she presented a significant re-stenosis of the aortic arch.A second stent(LD Max 26 mm)was implanted and both stents were dilated up to 16 mm.After an initially unremarkable post-interventional course,the patient presented with hoarseness five days after the intervention.MRI and CT scans ruled out an intracranial pathology,as well as thoracic hematoma,arterial dissection,and aneurysm around the intervention site.Laryngoscopy confirmed left vocal fold paresis attributable to an injury to the left recurrent laryngeal nerve(LRLN)during aortic arch stenting,as the nerve loops around the aortic arch in close proximity to the area of the implanted stents.Following a non-invasive therapeutic approach entailing regular speech therapy,the patient recovered and demonstrated no residual clinical symptoms of LRLN palsy after six months.CONCLUSION Left recurrent laryngeal nerve palsy is a rare complication of aortic arch stenting not previously reported.
文摘Background: The primary concern of the Fontan procedure has been atrial arrhythmias, but little attention has been given to hemodynamic changes. This study’s purpose was to examine the hemodynamics and arrhythmias of the Intra/extracardiac fenestrated Fontan, and determine any advantages/disadvantages of this newer Fontan procedure. Methods: Patients undergoing the intra/ extracardiac fenestrated Fontan procedure at this institute between December 2009 and June 2017 were included in this retrospective evaluation of preoperative and postoperative hemodynamics during cardiac catheterization. End Diastolic Pressure (EDP), Pulmonary Artery Pressure (PAP), Left Atrial Pressure (LAP), and Transpulmonary Gradient (TPG) were the hemodynamic markers of interest. Occurrence of arrhythmias was also examined preoperatively, less than 2 weeks postoperatively, and greater than 2 weeks postoperatively. Morbidities and mortalities were also evaluated. Results: Fourteen patients underwent the procedure between December 2009 and June 2017. Preoperative data was available in all of these patients. Postoperative data was partially incomplete for atrial arrhythmias and hemodynamic data. EDP rose from 9.29 ± 3.50 mmHg to 10.33 ± 3.12 mmHg. PAP rose from 12.57 ± 2.50 mmHg to 14.27 mmHg. TPG dropped from 5.00 ± 2.29 mmHg to 3.25 ± 1.67 mmHg. LAP rose from 7.57 ± 2.87 mmHg to 10.30 ± 1.95 mmHg. Atrioventricular valve (AVV) regurgitation remained the same pre and postoperatively. 8 of 13 patients developed arrhythmias at less than 2 weeks postoperatively, and 5 of 12 patients developed arrhythmias at greater than 2 weeks postoperatively. There were no morbidities or mortalities. Conclusions: We found a statistically significant change in EDP, PAP, LAP, and TPG levels. It is unclear whether this is an advantage or disadvantage. The significance of these changes is unclear in this small population of patients. Further evaluation of hemodynamics, arrhythmias, morbidities and mortalities associated with the intra/extracardiac Fontan procedure is needed.
文摘Background:Still little is known about the impact on right ventricle function of the 2 main approaches to Norwood palliation in Hypoplastic left heart syndrome,the right ventricle-pulmonary artery shunt(RVPAS)and the modified Blalock-Taussig shunt(mBTS).Methods:The cohort included 27 patients with Hypoplastic left heart syndrome(10 in the mBTS group,17 in the RVPAS group).Longitudinal strain,tricuspid annulus peak systolic excursion and fractional area change were evaluated before Norwood and in four different breakpoints in the steady-state after Norwood procedure(30-days,90-days,140-days and 200-days after Norwood).Results:No significant differences were found in all standard echocardiographic functional parameters between the two groups at any times.However,when we compared right ventricle function before and after Norwood procedure,longitudinal strain significantly improved in mBTS group compared to pre-surgical assessment(after 90-days:mBTS+27,35%±43,47 vs.RVPAS-8,20%±25,25,p=0,03;after 200-days:mBTS+10.19%±36.58 vs.RVPAS-21.64%±30.43,p=0.04).Conclusion:The mBTS group,which did not receive any ventriculotomy,showed a significant increase in right ventricle longitudinal strain during convalescence.These data support the use of longitudinal strain in Hypoplastic left heart syndrome evaluation and may suggest potential value in terms of cardiac mechanics in using mBTS,preserving the right ventricle integrity.
文摘57 cases with G6PD deficiency and 62 with normal G6PD activities as controls in Chonghua County, Guangdong Province were examined in the respects of visual acuity, color vision, corneal sensitivity, lens, vitreous and fundus.The results showed that the incidences of congenital lenticular opacities and congenital color blindness in G6PD deficiency group were higher than those in the controls. However,there were no findings such as pale conjunctiva, sallow sclera, pallor papillae and macular edema, which could be seen frequently in patients with favism. The hemoglobin values of all the cases were within normal range, which indicated that the subjects with G6PD deficiency usually didn’t manifest hemolysis but only had a hereditary susceptibility, and the ocular findings in favism might result from hemolytic anemia, tissue anoxia and unknown toxic substances from vicia faba.
