Apart from listening to the cry of a healthy newborn,it is the declaration by the attending paediatrician in the labour room that the child is normal which brings utmost joy to parents.The global incidence of children...Apart from listening to the cry of a healthy newborn,it is the declaration by the attending paediatrician in the labour room that the child is normal which brings utmost joy to parents.The global incidence of children born with congenital anomalies has been reported to be 3%-6%with more than 90%of these occurring in low-and middle-income group countries.The exact percentages/total numbers of children requiring surgical treatment cannot be estimated for several reasons.These children are operated under several surgical disciplines,viz,paediatric-,plastic reconstructive,neuro-,cardiothoracic-,orthopaedic surgery etc.These conditions may be life-threatening,e.g.,trachea-oesophageal fistula,critical pulmonary stenosis,etc.and require immediate surgical intervention.Some,e.g.,hydrocephalus,may need intervention as soon as the patient is fit for surgery.Some,e.g.,patent ductus arteriosus need‘wait and watch’policy up to a certain age in the hope of spontaneous recovery.Another extremely important category is that of patients where the operative intervention is done based on their age.Almost all the congenital anomalies coming under care of a plastic surgeon are operated as elective surgery(many as multiple stages of correction)at appropriate ages.There are advantages and disadvantages of intervention at different ages.In this article,we present a review of optimal timings,along with reasoning,for surgery of many of the common congenital anomalies which are treated by plastic surgeons.Obstetricians,paediatricians and general practitioners/family physicians,who most often are the first ones to come across such children,must know to guide the parents appropriately and convincingly impress upon the them as to why their child should not be operated immediately and also the consequences of too soon or too late.展开更多
Congenital radio-ulnar synostosis (CRUS) is a rare skeletal malformation of the upper limb and the most common congenital functional disorder of the elbow joint, causing limitation in forearm rotational movements, whi...Congenital radio-ulnar synostosis (CRUS) is a rare skeletal malformation of the upper limb and the most common congenital functional disorder of the elbow joint, causing limitation in forearm rotational movements, which may lead to difficulties with some activities of daily living. We reported a 4-year-old girl with congenital bilateral proximal radio-ulnar synostosis who presented with functional discomfort due to limitation of the prono-supination movements of the forearms and abnormal gestures when handling objects. She has clinical and radiological features of congenital radio-ulnar synostosis (CRUS). However, the parents declined corrective surgery because of wrong perception of the condition to be normal. This case highlighted the poor health seeking behavior and wrong illness perception prevalent in the developing countries.展开更多
Background: Congenital Uterine Anomalies are malformations of the Uterus which occur during embryonic life and result from the abnormal formation, fusion or resorption of the Mullerian ducts. Most of them are asymptom...Background: Congenital Uterine Anomalies are malformations of the Uterus which occur during embryonic life and result from the abnormal formation, fusion or resorption of the Mullerian ducts. Most of them are asymptomatic and diagnosis is done incidentally or during examinations performed for other purposes. We report three cases of women with pregnancies in malformed uteri. Aim: To depict the diagnostic challenges and therapeutic aspects of management of pregnancies in congenitally malformed Uteri. Case Presentation: The first case was a 22-year-old student who came to consult for a second opinion on the management of an ectopic pregnancy. A 2D Ultrasound done prior revealed an ectopic pregnancy but failed to specify its location in a rudimentary uterine horn. Management with a Multi-dose Methotrexate regimen was initiated but progress was not favorable. She came to us for a second opinion on management. Diagnostic laparoscopy was done and revealed an ectopic pregnancy in a rudimentary uterine horn. This was confirmed by histopathology. Management consisted of resection of the rudimentary horn and a right total salpingectomy. The second case was that of a woman who presented with spotting in early pregnancy. An Obstetric 2D ultrasound done revealed a bicornuate Uterus with a Gestational sac in one horn. She was placed on progesterone supplementation for 2 weeks, with regular antenatal contacts. She had an elective cesarean section at 39 weeks. Surgery revealed a complete Bicornuate Uterus. The post-operative period was uneventful with no complications. The third case was that of a woman with a past history of five successive spontaneous abortions, who presented with spotting at about 8 weeks of gestation. An Obstetric Ultrasound done revealed a Bicornuate Uterus and an embryo in one cornus. She was admitted, given her poor obstetric history, for about 14 days and placed on progesterone supplementation till 20 weeks of gestation. Antenatal contacts were regular and she had an emergency cesarean section at 36 weeks. There were no complications in the post operative period. Conclusion: The high degree of diagnostic accuracy makes 3D ultrasound the diagnostic modality of choice. Nevertheless, 2D and Hysterosalpingography can be used as well. Management of pregnancies in women with congenital Uterine anomalies varies per case as presenting symptoms and outcomes with pregnancies are not alike. When diagnosed out of pregnancy, and depending on the type of anomaly, surgical management may be recommended.展开更多
Summary: The purpose of this study was to evaluate the value of multi-detector computed tomography (MDCT) angiography for the diagnosis of congenital aortic arch anomalies and present the radiological images of con...Summary: The purpose of this study was to evaluate the value of multi-detector computed tomography (MDCT) angiography for the diagnosis of congenital aortic arch anomalies and present the radiological images of congenital aortic arch anomalies in Chinese children. MDCT angiography and transthoracic echocardiography (TTE) were applied for the diagnosis of congenital aortic arch anomalies in 362 Chi- nese children between May 2006 and December 2011 (age ranges from 5 days to 12 years; mean age, 3.3 years). Surgery and/or catheter angiography (CA) were conducted in all patients to confirm the final diagnosis. In the 362 Chinese children with congenital heart anomalies, congenital aortic arch anomalies were definitely diagnosed in 198 children and 164 children ruled out by operation and/or (CA). Among the 198 children with anomalies, coarctation of aorta (CoA), interruption of aortic arch (IAA), fight aor- tic arch, aberrant right subclavian artery and double aortic arch were diagnosed in 134, 32, 20, 10 and 2 children respectively, and there were 6 cases with uncommon congenital aortic arch anomalies: 2 had double aortic arch including 1 with five branches of the aortic arch, 2 had isolation of the right sub- clavian artery with two patent ductus arteriosus (PDA), 1 had an isolation of the common carotid artery with a PDA, and 1 had double PDA with a single ventricle and pulmonary artery atresia. Among the 32 children with IAA, 28 were of type A, and 4 were of type B. The diagnostic sensitivity, specificity and accuracy of MDCT angiography for congenital aortic arch anomaiies were 100% (198/198), 98% (161/164) and 99% (359/362), respectively. The diagnostic sensitivity, specificity and accuracy of TTE were 92% (182/198), 81% (133/164) and 87% (315/362), respectively. In conclusion, MDCT angiogra- phy is a reliable, noninvasive imaging technique for the diagnosis of congenital aortic arch anomalies in children. Sometimes, even more information can be obtained from this technique than from conven- tional angiography.展开更多
Accurate prenatal diagnosis of complex congenital cardiovascular anomalies, vascular ones in particular, is still challenging. A fetal cardiovascular cast model can provide a copy of the cardiac chambers and great ves...Accurate prenatal diagnosis of complex congenital cardiovascular anomalies, vascular ones in particular, is still challenging. A fetal cardiovascular cast model can provide a copy of the cardiac chambers and great vessels with normal or pathological structures. This study was aimed to demonstrate three-dimensional anatomy of complex congenital cardiovascular anomalies in fetuses by means of corrosion casting. Twenty fetuses with prenatal-ultrasound-diagnosed complex cardiovascular anomalies were enrolled in this study(19 to 35 gestational weeks). Fetal cardiovascular cast models were made by a corrosion casting technique. The specimens were injected with casting material via the umbilical vein, and then immersed in strong acid after casting fluid was solidified, to disclose the geometries of cardiovascular cavities. Nineteen cast models were successfully made from 20 specimens. The casts distinctly showed the morphological malformations and spatial relationship between cardiac chambers and great vessels. One hundred and eleven abnormalities were revealed by casting in the 19 specimens, including 34 abnormalities located in the cardiac chambers(3, 4 and 27 anomalies in the atria, atrioventricular valves and ventricles, respectively), and 77 in the great vessels(28, 20, 24 and 5 anomalies in the aorta and its branches, the pulmonary artery, the ductus arteriosus and the major veins, respectively). Corrosion casting can display three-dimensional anatomy of fetal complex cardiovascular anomalies. This improves our understanding of related pathomorphology and prenatal diagnosis.展开更多
BACKGROUND Isolated single coronary artery is a rare congenital anomaly.R-I subtype single coronary artery is even rarer.In this subtype,a very large right coronary artery extends in the coronary sulcus to the anterio...BACKGROUND Isolated single coronary artery is a rare congenital anomaly.R-I subtype single coronary artery is even rarer.In this subtype,a very large right coronary artery extends in the coronary sulcus to the anterior base of the heart where it produces the left anterior descending coronary artery.Currently,only a few case reports are available in the literature for this anomaly.CASE SUMMARY Here,we report the case of a 62-year-old woman who presented to the cardiology clinic with decreased exercise tolerance and poor blood pressure control.The patient underwent coronary angiography(CAG)and emission computed tomography(ECT).CAG images revealed a single gigantic right coronary artery(R-I type)arising from the right coronary sinus with branches supplying the left coronary territory.The ECT results confirmed myocardial ischemia at the location of the absent left coronary artery.The ECT findings confirmed that ischemia was consistent with the vascular loss location in CAG images.In such anomalies,there is a compensatory widening of the coronary artery lumen.Medical treatment was administered,and the patient was discharged.CONCLUSION Isolated single coronary arteries are associated with ischemia and potentially fatal acute coronary events.Hence,controlling risk factors is critical.展开更多
Dermoid cysts are benign tumors originating from germ cells, which can form in various locations, including the nasal area in rare cases. They are of unknown exact etiology, but it is suggested that it is due to abnor...Dermoid cysts are benign tumors originating from germ cells, which can form in various locations, including the nasal area in rare cases. They are of unknown exact etiology, but it is suggested that it is due to abnormal tissue migration during early embryonic development. Nasal dermoid cysts albeit rare, can present in various forms such as sinuses, fistulas, or intracranially extending tracts. They can be asymptomatic and incidentally discovered or present with a visible external mass or sinus that is either painful, infected or cosmetically concerning. If nasal dermoid cysts with an intra-nasal bone sinus tract are left untreated, they can lead to life-threatening complications. This report describes the case of a 6-year-old girl with a nasal dermoid cyst connected to a superficial punctum by an intra-nasal tract. She had undergone surgical excision of a nasal swelling previously diagnosed as a dermoid cyst. One year later, she returned to our clinic with a recurrence of the nasal swelling. Imaging tests revealed a nasal dermoid cyst with a tract extending to the nasal tip, without intracranial expansion. The cyst, along with the entire tract, was successfully removed surgically, and the postoperative follow-up indicated no complications. Histopathology confirmed the diagnosis of a dermoid cyst. This case underscores the significance of considering the dermoid tract in nasal cyst cases and the necessity of its complete removal to prevent recurrence.展开更多
Choanal atresia (CA) is a rare occlusion of the posterior choanae. Unilateral cases have been reported more than bilaterally, and it’s more often right-sided in those patients. According to the literature, mixed bony...Choanal atresia (CA) is a rare occlusion of the posterior choanae. Unilateral cases have been reported more than bilaterally, and it’s more often right-sided in those patients. According to the literature, mixed bony-membranous atresia is the most common type. There is a high incidence of craniofacial and visceral anomalies associated with congenital choanal atresia. Therefore, investigation for associated congenital anomalies is an important step before the surgery. We report 2 cases of incidental finding of unilateral choanal atresia in a 21- and 17-year-old with nasal discharge being the only complaint in the former and nasal obstruction with headache in the latter. The patients were then scheduled for day-surgery as a case of choanal atresia for transnasal, endoscopic repair and posterior septectomy. The patients were discharged home on the same day with the absence of restenosis or other complications.展开更多
Specialized centers are needed for nephrology and urology care of children.The justifications are the specialized nature of care needed and the growing incidence and prevalence.Children with chronic kidney disease(CKD...Specialized centers are needed for nephrology and urology care of children.The justifications are the specialized nature of care needed and the growing incidence and prevalence.Children with chronic kidney disease(CKD)are at risk of morbidity,mortality,and decreased quality of life.Current pediatric practice structures are apparently poorly suited for the increasing demands of chronic disease in children.Kidney diseases account for around 8%-10%of total outpatients and 12%of admissions to the pediatric ward in hospitals.The major causes of pediatric CKD in registries are congenital anomalies of the kidney and urinary tract(around 50%),followed by inherited nephropathies and glomerulonephritis.The nephrologist’s role is important for specialized investigations and treatment.Urologist’s services are essential for the wide variety of conditions from birth to early adult age for complete cure and complementing medical management.Children have a right to treatments and to resources that are as sophisticated and advanced as those available to adults.Simple and sophisticated care for all children with ailments of the kidneys and related structures is important for ensuring‘health for all’.The availability of‘Child Kidney Care Centers’will go a long way in improving the lives of affected children.展开更多
Purpose:To summarize our experience in the management of congenital anomalies in the kidney and urinary tract(CAKUT)in adults.Materials and methods:We conducted a retrospective chart review of all adult patients who u...Purpose:To summarize our experience in the management of congenital anomalies in the kidney and urinary tract(CAKUT)in adults.Materials and methods:We conducted a retrospective chart review of all adult patients who underwent primary surgical intervention for CAKUT between 1998 and 2021.Results:The study included 102 patients with a median age of 25(interquartile range,23-36.5).Of these,85(83.3%)patients reported normal prenatal ultrasound,and the remaining 17(16.7%)patients were diagnosed with antenatal hydronephrosis.These patients were followed-up conservatively postnatally and were discharged from follow-up because of the absence of indications for surgical intervention or because they decided to leave medical care.All studied adult patients presented with the following pathologies:67 ureteropelvic junction obstructions,14 ectopic ureters,9 ureteroceles,and 6 primary obstructive megaureters,and the remaining 6 patients were diagnosed with vesicoureteral reflux.Forty-three percent of the patients had poorly functioning moieties associated with ectopic ureters or ureteroceles.Notably,67%of patients underwent pyeloplasty,9%underwent endoscopic puncture of ureterocele,3%underwent ureteral reimplantation,6%underwent endoscopic correction of reflux,7%underwent partial nephrectomy of non-functioning moiety,and the remaining 9%underwent robotic-assisted laparoscopic ureteroureterostomy.The median follow-up period after surgery was 33 months(interquartile range,12-54).Post-operative complications occurred in 5 patients(Clavien-Dindo 1-2).Conclusions:Patients with CAKUT present clinical symptoms later in life.Parents of patients diagnosed during fetal screening and treated conservatively should be aware of this possibility,and children should be appropriately counseled when they enter adolescence.Similar surgical skills and operative techniques used in the pediatric population may be applied to adults.展开更多
AIM To show imaging results from application of fourdimensional(4D) ultrasound lightening technique(HDlive^(TM)) in clinical obstetrics practice. METHODS Normal and abnormal fetuses at second and third trimester of pr...AIM To show imaging results from application of fourdimensional(4D) ultrasound lightening technique(HDlive^(TM)) in clinical obstetrics practice. METHODS Normal and abnormal fetuses at second and third trimester of pregnancy undergoing routine scan with 4D HDlive^(TM)(5DUS) in the rendering mode are described. Realistic features of fetal structures were provided by 5DUS in the rendering mode. Normal anatomy as well as pathology like cleft lip, hypoplastic face, micrognathia, low-set ears, corpus callosum, arthrogryposis, aortic arch, left congenital diaphragmatic hernia are highlighted in this study. Anatomical details of the fetuses were provided by 5DUS with higher quality imaging modality compared to those obtained using conventional 2D/3D ultrasound. RESULTS Realistic views of fetal anatomy details were displayed by means of 5DUS in the rendering mode, with high image quality obtained either in low-risk or in high-risk obstetrics population. Corpus callosum, esophagus, and aortic arch were obtained in normal fetuses. Cleft lip, cleft lip and palate, micrognathia, hypoplastic face, lowset ears, arthrogryposis, left congenital diaphragmatic hernia, exomphalos, and clitoris hypertrophy were clearly rendered by 5DUS application.CONCLUSION The use of 5DUS in the rendering mode, when clinical available, was diagnostic in a variety of congenital anomalies, aided understanding of the parents-tobe and improved prenatal counseling and perinatal management.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
In the 1990s, misoprostol (synthetic prostaglandin E1 analogue) was found to be an effective abortive agent when taken orally and became widely used in Latin America as a means to terminate unwanted pregnancies. A var...In the 1990s, misoprostol (synthetic prostaglandin E1 analogue) was found to be an effective abortive agent when taken orally and became widely used in Latin America as a means to terminate unwanted pregnancies. A variety of congenital anomalies have been observed among the children of women who ingested misoprostol, but failed to terminate their pregnancy. We report here eight years of experience in Panama with the detection and follow-up of the malformations seen in infants associated with the use of misoprostol prostaglandin during the first trimester of pregnancy. During the period between April 1995 and March 2003, we identified 63 infants at the Panama’s Children’s Hospital who were exposed to misoprostol while in the womb and who were born with malformations. These infants were evaluated by a team of neonatologists, geneticists, cardiologists, ophthalmologists, and radiologists.展开更多
Objective To provide evidence for more accurate diagnosis of birth defects based on the pathoauatomy of congenital malformations. Methods Data used in this study were obtained fi'om Luliang City Hospital and three co...Objective To provide evidence for more accurate diagnosis of birth defects based on the pathoauatomy of congenital malformations. Methods Data used in this study were obtained fi'om Luliang City Hospital and three county hospitals of Shanxi province between February 2004 and March 2006. Autopsy and pathological examination of 160 dead fetuses and stillbirths were performed. Photos of dead fetuses and stillbirths were taken, tissues were cut into sections for pathological examination under microscope, all pathological information was recorded, and percentage of birth defects was calculated. Results The proportion of dead fetuses and stillbirths with or without congenital malformations was 84.4% (135/160) and 15.6% (25/160), respectively. There were 16 categories of major external and internal birth defects in 135 cases of such defects. Congenital heart defects, anencephaly and spina bifida had a higher prevalence rate in the study period. The prevalence rate of non-malformation death and birth defects 〈 28 gestational weeks and internal anomalies ≥ 28 gestational weeks was 14.61% (61/4175) and 17.25% (72/4175), respectively. A total of 413 in situ anomalies were found in 135 cases of autopsy. Spina bifida, anencephaly, congenital heart defects, aplasia or accessory lobe of lung, renal agenesis and dysplasis and congenital hydrocephaly were more closely associated with severe malformations than with mitis malformations. The cases of dead fetuses and stillbirths with multiple malformations (/〉 2 in situ anomalies) had a higher proportion (74.1%), whereas those with isolated malformations had a lower proportion (25.93%). Conclusion The occurrence of congenital malformations in different embryonic developmental stages affects multiple organs. Postmortem examination of internal and multiple malformations of fetal deaths and stillbirths can provide more accurate diagnostic information for birth defects.展开更多
Background:The incidence of congenital coronary artery anomalies (CCAAs) is different between ethnic groups,but there is no report about Uyghur CCAAs because of the limitation of inspection methods.This study deter...Background:The incidence of congenital coronary artery anomalies (CCAAs) is different between ethnic groups,but there is no report about Uyghur CCAAs because of the limitation of inspection methods.This study determined the prevalence of Uyghur CCAAs and analysis the difference of CCAAs between Uyghur and Han ethnic groups by the method of multi-slice computed tomography coronary angiography (MSCTCA).Methods:Seven thousand four hundred and sixty-nine MSCTCA were analyzed for the CCAAs retroactively,1934 were Uyghur patients while 4746 were Han patients.All the coronary artery images dates obtained by MSCTCA were evaluated for the CCAAs by two doctors.Results:Nineteen kinds of CCAAs were found:(1) The overall incidence of CCAAs was 2.72% (203/7469) among all patients,2.34% (111/4746) among Han patients whereas a significant higher 3.93% (76/1934) among Uyghur patients (χ^2 =12.780,P 〈 0.05); (2) the incidence of CCAAs among male patients was 2.48% (76/3069) in Han while 4.33% (56/1293) in Uyghur (χ^2 =10.663,P 〈 0.05); (3) the incidence of CCAAs on the left side was 1.07% (51/4746) among Han patients while 2.17% (42/934) among Uyghur patients (χ^2 =12.047,P 〈 0.05); (4) among these 19 kinds of CCAAs,there were significant differences of the incidence of the following kinds of CCAAs between Uyghur and Han:Left coronary artery (LCA) high location (χ^2 =8.320,P =0.004),right coronary artery (RCA) originate from left coronary sinus (χ^2 =5.450,P =0.020),and RCA originate from left Coronary sinus + LCA high location (P =0.024).Conclusions:There exists some difference in CCAAs between Uyghur and Han ethnic groups.The CCAAs incidence of Uyghur is higher than that of Han,especially in male patients and on the left side; among all kinds of CCAAs,the incidence of LCA high location,RCA originate from left coronary sinus,RCA originate from left coronary sinus + LCA high locations of Uyghur is higher than Han.展开更多
BACKGROUND Hemifacial microsomia(HFM)is a rare congenital malformation characterized by a combination of various anomalies,including the face,ears,eyes,and vertebrae.Prenatal diagnosis for HFM is possible,and quite ac...BACKGROUND Hemifacial microsomia(HFM)is a rare congenital malformation characterized by a combination of various anomalies,including the face,ears,eyes,and vertebrae.Prenatal diagnosis for HFM is possible,and quite accurate ultrasound can detect obvious defects.The etiology is still unknown,although some hypotheses have been proposed,including gene mutation,chromosome anomaly,and environmental risk factors.However,there are few reports of pulmonary hypoplasia and dextrocardia in HFM.CASE SUMMARY A 2-year-old boy presented to the ear reconstruction department of our hospital complaining of deviation of the face to the right side and auricular anomaly.Physical examination revealed facial asymmetry,preauricular skin tags,and concha-type microtia with stricture of the external auditory canal on the right side.Head magnetic resonance imaging showed bilateral semicircular canal dysplasia and bilateral internal auditory canals stenosis.Audiometric examination showed bilateral severe sensorineural hearing loss.Chest radiography and computed tomography showed dextrocardia and right pulmonary hypoplasia.CONCLUSION This case presented a rare finding and an unusual association of 3 malformations,ipsilateral HFM,pulmonary agenesis,and dextrocardia.展开更多
<strong>Introduction:</strong><b><span style="font-family:;" "=""> </span></b><span style="font-family:Verdana;">Scrotoschisis is a very rar...<strong>Introduction:</strong><b><span style="font-family:;" "=""> </span></b><span style="font-family:Verdana;">Scrotoschisis is a very rare congenital defect of the scrotum characterized by the exteriorization of one or two testes. We report a case of right scrotoschisis in a newborn as well as a review of the literature for an approach of probable etiology.</span><span style="font-family:;" "=""> </span><b><span style="font-family:Verdana;">Patient and Observation:</span></b><b><span style="font-family:;" "=""> </span></b><span style="font-family:Verdana;">A newborn baby of 8 hours of life, weighing 3200</span><span style="font-family:;" "=""> </span><span style="font-family:Verdana;">g was referred to our department for a right scrotal defect with exteriorization of the testis associated with fluid swelling of the left bursa. The 18-year-old mother, primiparous and primigeste followed all the prenatal consultations with eutocic delivery. After clinical investigation the diagnosis of right scrotosisis and left hydrocele was retained. Surgical treatment was carried out by primary closure after orchidopexy and exploration of the contralateral bursa, the content of which was calcified meconium bathed in a yellowish liquid. The post-operative consequences were simple.</span><span style="font-family:;" "=""> </span><b><span style="font-family:Verdana;">Conclusion:</span></b><b><span style="font-family:;" "=""> </span></b><span style="font-family:Verdana;">Scrotoschisis is an extremely rare birth defect whose etiology is poorly understood. However, it could be the cause of meconium peritonitis secondary to a scarred f</span><span style="font-family:Verdana;">a</span><span style="font-family:Verdana;">tal intestinal perforation.</span>展开更多
The abnormal origin of the right coronary artery from the left aortic sinus coursing between the aorta and the pulmonary trunk is a rare congenital anomaly. It may remain asymptomatic or may result in cardiac morbidit...The abnormal origin of the right coronary artery from the left aortic sinus coursing between the aorta and the pulmonary trunk is a rare congenital anomaly. It may remain asymptomatic or may result in cardiac morbidity or mortality. In the past, an anomalous origin of the right coronary artery from the left sinus of Valsalva was considered a benign finding;it is now evident that this anomaly can be associated with atypical chest pain, myocardial ischemia, and sudden death. We thought that;the diagnosis of left sinus Valsalva aneurysm, described by transtorasic echocardiography and transeusophageal echocardiography, might need demonstrated advanced scanning techniques.展开更多
Background Primary vesicoureteral reflux(VUR)is a common congenital anomaly of the kidney and urinary tract(CAKUT)in childhood.The present study identified the possible genetic contributions to primary VUR in children...Background Primary vesicoureteral reflux(VUR)is a common congenital anomaly of the kidney and urinary tract(CAKUT)in childhood.The present study identified the possible genetic contributions to primary VUR in children.Methods Patients with primary VUR were enrolled and analysed based on a national multi-center registration network(Chinese Children Genetic Kidney Disease Database,CCGKDD)that covered 23 different provinces/regions in China from 2014 to 2019.Genetic causes were sought using whole-exome sequencing(WES)or targeted-exome sequencing.Results A total of 379 unrelated patients(male:female 219:160)with primary VUR were recruited.Sixty-four(16.9%)children had extrarenal manifestations,and 165(43.5%)patients showed the coexistence of other CAKUT phenotypes.Eighty-eight patient(23.2%)exhibited impaired renal function at their last visit,and 18 of them(20.5%)developed ESRD at the median age of 7.0(IQR 0.9–11.4)years.A monogenic cause was identified in 28 patients(7.39%).These genes included PAX2(n=4),TNXB(n=3),GATA3(n=3),SLIT2(n=3),ROBO2(n=2),TBX18(n=2),and the other 11 genes(one gene for each patient).There was a significant difference in the rate of gene mutations between patients with or without extrarenal complications(14.1%vs.6%,P=0.035).The frequency of genetic abnormality was not statistically significant based on the coexistence of another CAKUT(9.6%vs.5.6%,P=0.139,Chi-square test)and the grade of reflux(9.4%vs.6.7%,P=0.429).Kaplan–Meier survival curve showed that the presence of genetic mutations did affect renal survival(Log-rank test,P=0.01).PAX2 mutation carriers(HR 5.1,95%CI 1.3–20.0;P=0.02)and TNXB mutation carriers(HR 20.3,95%CI 2.4–168.7;P=0.01)were associated with increased risk of progression to ESRD.Conclusions PAX2,TNXB,GATA3 and SLIT2 were the main underlying monogenic causes and accounted for up to 46.4%of monogenic VUR.Extrarenal complications and renal function were significantly related to the findings of genetic factors in children with primary VUR.Like other types of CAKUT,several genes may be responsible for isolated VUR.展开更多
Kidney disease is manifested in a wide variety of phenotypes,many of which have an important hereditary component.To delineate the genotypic and phenotypic spectrum of pediatric nephropathy,a multicenter registration ...Kidney disease is manifested in a wide variety of phenotypes,many of which have an important hereditary component.To delineate the genotypic and phenotypic spectrum of pediatric nephropathy,a multicenter registration system is being imple-mented based on the Chinese Children Genetic Kidney Disease Database(CCGKDD).In this study,all the patients with kidney and urological diseases were recruited from 2014 to 2020.Genetic analysis was conducted using exome sequencing for families with multiple affected individuals with nephropathy or clinical suspicion of a genetic kidney disease owing to early-onset or extrarenal features.The genetic diagnosis was confirmed in 883 of 2256(39.1%)patients from 23 provinces in China.Phenotypic profiles showed that the primary diagnosis included steroid-resistant nephrotic syndrome(SRNS,23.5%),glomerulonephritis(GN,32.2%),congenital anomalies of the kidney and urinary tract(CAKUT,21.2%),cystic renal disease(3.9%),renal calcinosis/stone(3.6%),tubulopathy(9.7%),and chronic kidney disease of unknown etiology(CKDu,5.8%).The pathogenic variants of 105 monogenetic disorders were identified.Ten distinct genomic disorders were identified as pathogenic copy number variants(CNVs)in 11 patients.The diagnostic yield differed by subgroups,and was highest in those with cystic renal disease(66.3%),followed by tubulopathy(58.4%),GN(57.7%),CKDu(43.5%),SRNS(29.2%),renal calcinosis/stone(29.3%)and CAKUT(8.6%).Reverse phenotyping permitted correct identification in 40 cases with clinical reassessment and unexpected genetic conditions.We present the results of the largest cohort of children with kidney disease in China where diagnostic exome sequencing was performed.Our data demonstrate the utility of family-based exome sequencing,and indicate that the combined analysis of genotype and phenotype based on the national patient registry is pivotal to the genetic diagnosis of kidney disease.展开更多
文摘Apart from listening to the cry of a healthy newborn,it is the declaration by the attending paediatrician in the labour room that the child is normal which brings utmost joy to parents.The global incidence of children born with congenital anomalies has been reported to be 3%-6%with more than 90%of these occurring in low-and middle-income group countries.The exact percentages/total numbers of children requiring surgical treatment cannot be estimated for several reasons.These children are operated under several surgical disciplines,viz,paediatric-,plastic reconstructive,neuro-,cardiothoracic-,orthopaedic surgery etc.These conditions may be life-threatening,e.g.,trachea-oesophageal fistula,critical pulmonary stenosis,etc.and require immediate surgical intervention.Some,e.g.,hydrocephalus,may need intervention as soon as the patient is fit for surgery.Some,e.g.,patent ductus arteriosus need‘wait and watch’policy up to a certain age in the hope of spontaneous recovery.Another extremely important category is that of patients where the operative intervention is done based on their age.Almost all the congenital anomalies coming under care of a plastic surgeon are operated as elective surgery(many as multiple stages of correction)at appropriate ages.There are advantages and disadvantages of intervention at different ages.In this article,we present a review of optimal timings,along with reasoning,for surgery of many of the common congenital anomalies which are treated by plastic surgeons.Obstetricians,paediatricians and general practitioners/family physicians,who most often are the first ones to come across such children,must know to guide the parents appropriately and convincingly impress upon the them as to why their child should not be operated immediately and also the consequences of too soon or too late.
文摘Congenital radio-ulnar synostosis (CRUS) is a rare skeletal malformation of the upper limb and the most common congenital functional disorder of the elbow joint, causing limitation in forearm rotational movements, which may lead to difficulties with some activities of daily living. We reported a 4-year-old girl with congenital bilateral proximal radio-ulnar synostosis who presented with functional discomfort due to limitation of the prono-supination movements of the forearms and abnormal gestures when handling objects. She has clinical and radiological features of congenital radio-ulnar synostosis (CRUS). However, the parents declined corrective surgery because of wrong perception of the condition to be normal. This case highlighted the poor health seeking behavior and wrong illness perception prevalent in the developing countries.
文摘Background: Congenital Uterine Anomalies are malformations of the Uterus which occur during embryonic life and result from the abnormal formation, fusion or resorption of the Mullerian ducts. Most of them are asymptomatic and diagnosis is done incidentally or during examinations performed for other purposes. We report three cases of women with pregnancies in malformed uteri. Aim: To depict the diagnostic challenges and therapeutic aspects of management of pregnancies in congenitally malformed Uteri. Case Presentation: The first case was a 22-year-old student who came to consult for a second opinion on the management of an ectopic pregnancy. A 2D Ultrasound done prior revealed an ectopic pregnancy but failed to specify its location in a rudimentary uterine horn. Management with a Multi-dose Methotrexate regimen was initiated but progress was not favorable. She came to us for a second opinion on management. Diagnostic laparoscopy was done and revealed an ectopic pregnancy in a rudimentary uterine horn. This was confirmed by histopathology. Management consisted of resection of the rudimentary horn and a right total salpingectomy. The second case was that of a woman who presented with spotting in early pregnancy. An Obstetric 2D ultrasound done revealed a bicornuate Uterus with a Gestational sac in one horn. She was placed on progesterone supplementation for 2 weeks, with regular antenatal contacts. She had an elective cesarean section at 39 weeks. Surgery revealed a complete Bicornuate Uterus. The post-operative period was uneventful with no complications. The third case was that of a woman with a past history of five successive spontaneous abortions, who presented with spotting at about 8 weeks of gestation. An Obstetric Ultrasound done revealed a Bicornuate Uterus and an embryo in one cornus. She was admitted, given her poor obstetric history, for about 14 days and placed on progesterone supplementation till 20 weeks of gestation. Antenatal contacts were regular and she had an emergency cesarean section at 36 weeks. There were no complications in the post operative period. Conclusion: The high degree of diagnostic accuracy makes 3D ultrasound the diagnostic modality of choice. Nevertheless, 2D and Hysterosalpingography can be used as well. Management of pregnancies in women with congenital Uterine anomalies varies per case as presenting symptoms and outcomes with pregnancies are not alike. When diagnosed out of pregnancy, and depending on the type of anomaly, surgical management may be recommended.
基金supported by the Natural Science Foundation of Hubei Province (No. 2012FFB04422)
文摘Summary: The purpose of this study was to evaluate the value of multi-detector computed tomography (MDCT) angiography for the diagnosis of congenital aortic arch anomalies and present the radiological images of congenital aortic arch anomalies in Chinese children. MDCT angiography and transthoracic echocardiography (TTE) were applied for the diagnosis of congenital aortic arch anomalies in 362 Chi- nese children between May 2006 and December 2011 (age ranges from 5 days to 12 years; mean age, 3.3 years). Surgery and/or catheter angiography (CA) were conducted in all patients to confirm the final diagnosis. In the 362 Chinese children with congenital heart anomalies, congenital aortic arch anomalies were definitely diagnosed in 198 children and 164 children ruled out by operation and/or (CA). Among the 198 children with anomalies, coarctation of aorta (CoA), interruption of aortic arch (IAA), fight aor- tic arch, aberrant right subclavian artery and double aortic arch were diagnosed in 134, 32, 20, 10 and 2 children respectively, and there were 6 cases with uncommon congenital aortic arch anomalies: 2 had double aortic arch including 1 with five branches of the aortic arch, 2 had isolation of the right sub- clavian artery with two patent ductus arteriosus (PDA), 1 had an isolation of the common carotid artery with a PDA, and 1 had double PDA with a single ventricle and pulmonary artery atresia. Among the 32 children with IAA, 28 were of type A, and 4 were of type B. The diagnostic sensitivity, specificity and accuracy of MDCT angiography for congenital aortic arch anomaiies were 100% (198/198), 98% (161/164) and 99% (359/362), respectively. The diagnostic sensitivity, specificity and accuracy of TTE were 92% (182/198), 81% (133/164) and 87% (315/362), respectively. In conclusion, MDCT angiogra- phy is a reliable, noninvasive imaging technique for the diagnosis of congenital aortic arch anomalies in children. Sometimes, even more information can be obtained from this technique than from conven- tional angiography.
基金supported by grants from the National Natural Science Foundation of China(No.81530056 and No.81501494)Hubei Province Health and Family Planning Scientific Research Project(No.WJ2015MB016)
文摘Accurate prenatal diagnosis of complex congenital cardiovascular anomalies, vascular ones in particular, is still challenging. A fetal cardiovascular cast model can provide a copy of the cardiac chambers and great vessels with normal or pathological structures. This study was aimed to demonstrate three-dimensional anatomy of complex congenital cardiovascular anomalies in fetuses by means of corrosion casting. Twenty fetuses with prenatal-ultrasound-diagnosed complex cardiovascular anomalies were enrolled in this study(19 to 35 gestational weeks). Fetal cardiovascular cast models were made by a corrosion casting technique. The specimens were injected with casting material via the umbilical vein, and then immersed in strong acid after casting fluid was solidified, to disclose the geometries of cardiovascular cavities. Nineteen cast models were successfully made from 20 specimens. The casts distinctly showed the morphological malformations and spatial relationship between cardiac chambers and great vessels. One hundred and eleven abnormalities were revealed by casting in the 19 specimens, including 34 abnormalities located in the cardiac chambers(3, 4 and 27 anomalies in the atria, atrioventricular valves and ventricles, respectively), and 77 in the great vessels(28, 20, 24 and 5 anomalies in the aorta and its branches, the pulmonary artery, the ductus arteriosus and the major veins, respectively). Corrosion casting can display three-dimensional anatomy of fetal complex cardiovascular anomalies. This improves our understanding of related pathomorphology and prenatal diagnosis.
文摘BACKGROUND Isolated single coronary artery is a rare congenital anomaly.R-I subtype single coronary artery is even rarer.In this subtype,a very large right coronary artery extends in the coronary sulcus to the anterior base of the heart where it produces the left anterior descending coronary artery.Currently,only a few case reports are available in the literature for this anomaly.CASE SUMMARY Here,we report the case of a 62-year-old woman who presented to the cardiology clinic with decreased exercise tolerance and poor blood pressure control.The patient underwent coronary angiography(CAG)and emission computed tomography(ECT).CAG images revealed a single gigantic right coronary artery(R-I type)arising from the right coronary sinus with branches supplying the left coronary territory.The ECT results confirmed myocardial ischemia at the location of the absent left coronary artery.The ECT findings confirmed that ischemia was consistent with the vascular loss location in CAG images.In such anomalies,there is a compensatory widening of the coronary artery lumen.Medical treatment was administered,and the patient was discharged.CONCLUSION Isolated single coronary arteries are associated with ischemia and potentially fatal acute coronary events.Hence,controlling risk factors is critical.
文摘Dermoid cysts are benign tumors originating from germ cells, which can form in various locations, including the nasal area in rare cases. They are of unknown exact etiology, but it is suggested that it is due to abnormal tissue migration during early embryonic development. Nasal dermoid cysts albeit rare, can present in various forms such as sinuses, fistulas, or intracranially extending tracts. They can be asymptomatic and incidentally discovered or present with a visible external mass or sinus that is either painful, infected or cosmetically concerning. If nasal dermoid cysts with an intra-nasal bone sinus tract are left untreated, they can lead to life-threatening complications. This report describes the case of a 6-year-old girl with a nasal dermoid cyst connected to a superficial punctum by an intra-nasal tract. She had undergone surgical excision of a nasal swelling previously diagnosed as a dermoid cyst. One year later, she returned to our clinic with a recurrence of the nasal swelling. Imaging tests revealed a nasal dermoid cyst with a tract extending to the nasal tip, without intracranial expansion. The cyst, along with the entire tract, was successfully removed surgically, and the postoperative follow-up indicated no complications. Histopathology confirmed the diagnosis of a dermoid cyst. This case underscores the significance of considering the dermoid tract in nasal cyst cases and the necessity of its complete removal to prevent recurrence.
文摘Choanal atresia (CA) is a rare occlusion of the posterior choanae. Unilateral cases have been reported more than bilaterally, and it’s more often right-sided in those patients. According to the literature, mixed bony-membranous atresia is the most common type. There is a high incidence of craniofacial and visceral anomalies associated with congenital choanal atresia. Therefore, investigation for associated congenital anomalies is an important step before the surgery. We report 2 cases of incidental finding of unilateral choanal atresia in a 21- and 17-year-old with nasal discharge being the only complaint in the former and nasal obstruction with headache in the latter. The patients were then scheduled for day-surgery as a case of choanal atresia for transnasal, endoscopic repair and posterior septectomy. The patients were discharged home on the same day with the absence of restenosis or other complications.
文摘Specialized centers are needed for nephrology and urology care of children.The justifications are the specialized nature of care needed and the growing incidence and prevalence.Children with chronic kidney disease(CKD)are at risk of morbidity,mortality,and decreased quality of life.Current pediatric practice structures are apparently poorly suited for the increasing demands of chronic disease in children.Kidney diseases account for around 8%-10%of total outpatients and 12%of admissions to the pediatric ward in hospitals.The major causes of pediatric CKD in registries are congenital anomalies of the kidney and urinary tract(around 50%),followed by inherited nephropathies and glomerulonephritis.The nephrologist’s role is important for specialized investigations and treatment.Urologist’s services are essential for the wide variety of conditions from birth to early adult age for complete cure and complementing medical management.Children have a right to treatments and to resources that are as sophisticated and advanced as those available to adults.Simple and sophisticated care for all children with ailments of the kidneys and related structures is important for ensuring‘health for all’.The availability of‘Child Kidney Care Centers’will go a long way in improving the lives of affected children.
文摘Purpose:To summarize our experience in the management of congenital anomalies in the kidney and urinary tract(CAKUT)in adults.Materials and methods:We conducted a retrospective chart review of all adult patients who underwent primary surgical intervention for CAKUT between 1998 and 2021.Results:The study included 102 patients with a median age of 25(interquartile range,23-36.5).Of these,85(83.3%)patients reported normal prenatal ultrasound,and the remaining 17(16.7%)patients were diagnosed with antenatal hydronephrosis.These patients were followed-up conservatively postnatally and were discharged from follow-up because of the absence of indications for surgical intervention or because they decided to leave medical care.All studied adult patients presented with the following pathologies:67 ureteropelvic junction obstructions,14 ectopic ureters,9 ureteroceles,and 6 primary obstructive megaureters,and the remaining 6 patients were diagnosed with vesicoureteral reflux.Forty-three percent of the patients had poorly functioning moieties associated with ectopic ureters or ureteroceles.Notably,67%of patients underwent pyeloplasty,9%underwent endoscopic puncture of ureterocele,3%underwent ureteral reimplantation,6%underwent endoscopic correction of reflux,7%underwent partial nephrectomy of non-functioning moiety,and the remaining 9%underwent robotic-assisted laparoscopic ureteroureterostomy.The median follow-up period after surgery was 33 months(interquartile range,12-54).Post-operative complications occurred in 5 patients(Clavien-Dindo 1-2).Conclusions:Patients with CAKUT present clinical symptoms later in life.Parents of patients diagnosed during fetal screening and treated conservatively should be aware of this possibility,and children should be appropriately counseled when they enter adolescence.Similar surgical skills and operative techniques used in the pediatric population may be applied to adults.
文摘AIM To show imaging results from application of fourdimensional(4D) ultrasound lightening technique(HDlive^(TM)) in clinical obstetrics practice. METHODS Normal and abnormal fetuses at second and third trimester of pregnancy undergoing routine scan with 4D HDlive^(TM)(5DUS) in the rendering mode are described. Realistic features of fetal structures were provided by 5DUS in the rendering mode. Normal anatomy as well as pathology like cleft lip, hypoplastic face, micrognathia, low-set ears, corpus callosum, arthrogryposis, aortic arch, left congenital diaphragmatic hernia are highlighted in this study. Anatomical details of the fetuses were provided by 5DUS with higher quality imaging modality compared to those obtained using conventional 2D/3D ultrasound. RESULTS Realistic views of fetal anatomy details were displayed by means of 5DUS in the rendering mode, with high image quality obtained either in low-risk or in high-risk obstetrics population. Corpus callosum, esophagus, and aortic arch were obtained in normal fetuses. Cleft lip, cleft lip and palate, micrognathia, hypoplastic face, lowset ears, arthrogryposis, left congenital diaphragmatic hernia, exomphalos, and clitoris hypertrophy were clearly rendered by 5DUS application.CONCLUSION The use of 5DUS in the rendering mode, when clinical available, was diagnostic in a variety of congenital anomalies, aided understanding of the parents-tobe and improved prenatal counseling and perinatal management.
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In the 1990s, misoprostol (synthetic prostaglandin E1 analogue) was found to be an effective abortive agent when taken orally and became widely used in Latin America as a means to terminate unwanted pregnancies. A variety of congenital anomalies have been observed among the children of women who ingested misoprostol, but failed to terminate their pregnancy. We report here eight years of experience in Panama with the detection and follow-up of the malformations seen in infants associated with the use of misoprostol prostaglandin during the first trimester of pregnancy. During the period between April 1995 and March 2003, we identified 63 infants at the Panama’s Children’s Hospital who were exposed to misoprostol while in the womb and who were born with malformations. These infants were evaluated by a team of neonatologists, geneticists, cardiologists, ophthalmologists, and radiologists.
基金funded by National"973"project on Population and Health(No.2007CB511901)China Postdoctoral Science Fundation Funded Project(No.200801016)+2 种基金National Health Baby Promotion Program(No.FP2000NO13)Education Ministry Key Program(No.02185)National Yang Zi Scholar Program,211 and 985 projects of Peking University(No.20020903)
文摘Objective To provide evidence for more accurate diagnosis of birth defects based on the pathoauatomy of congenital malformations. Methods Data used in this study were obtained fi'om Luliang City Hospital and three county hospitals of Shanxi province between February 2004 and March 2006. Autopsy and pathological examination of 160 dead fetuses and stillbirths were performed. Photos of dead fetuses and stillbirths were taken, tissues were cut into sections for pathological examination under microscope, all pathological information was recorded, and percentage of birth defects was calculated. Results The proportion of dead fetuses and stillbirths with or without congenital malformations was 84.4% (135/160) and 15.6% (25/160), respectively. There were 16 categories of major external and internal birth defects in 135 cases of such defects. Congenital heart defects, anencephaly and spina bifida had a higher prevalence rate in the study period. The prevalence rate of non-malformation death and birth defects 〈 28 gestational weeks and internal anomalies ≥ 28 gestational weeks was 14.61% (61/4175) and 17.25% (72/4175), respectively. A total of 413 in situ anomalies were found in 135 cases of autopsy. Spina bifida, anencephaly, congenital heart defects, aplasia or accessory lobe of lung, renal agenesis and dysplasis and congenital hydrocephaly were more closely associated with severe malformations than with mitis malformations. The cases of dead fetuses and stillbirths with multiple malformations (/〉 2 in situ anomalies) had a higher proportion (74.1%), whereas those with isolated malformations had a lower proportion (25.93%). Conclusion The occurrence of congenital malformations in different embryonic developmental stages affects multiple organs. Postmortem examination of internal and multiple malformations of fetal deaths and stillbirths can provide more accurate diagnostic information for birth defects.
文摘Background:The incidence of congenital coronary artery anomalies (CCAAs) is different between ethnic groups,but there is no report about Uyghur CCAAs because of the limitation of inspection methods.This study determined the prevalence of Uyghur CCAAs and analysis the difference of CCAAs between Uyghur and Han ethnic groups by the method of multi-slice computed tomography coronary angiography (MSCTCA).Methods:Seven thousand four hundred and sixty-nine MSCTCA were analyzed for the CCAAs retroactively,1934 were Uyghur patients while 4746 were Han patients.All the coronary artery images dates obtained by MSCTCA were evaluated for the CCAAs by two doctors.Results:Nineteen kinds of CCAAs were found:(1) The overall incidence of CCAAs was 2.72% (203/7469) among all patients,2.34% (111/4746) among Han patients whereas a significant higher 3.93% (76/1934) among Uyghur patients (χ^2 =12.780,P 〈 0.05); (2) the incidence of CCAAs among male patients was 2.48% (76/3069) in Han while 4.33% (56/1293) in Uyghur (χ^2 =10.663,P 〈 0.05); (3) the incidence of CCAAs on the left side was 1.07% (51/4746) among Han patients while 2.17% (42/934) among Uyghur patients (χ^2 =12.047,P 〈 0.05); (4) among these 19 kinds of CCAAs,there were significant differences of the incidence of the following kinds of CCAAs between Uyghur and Han:Left coronary artery (LCA) high location (χ^2 =8.320,P =0.004),right coronary artery (RCA) originate from left coronary sinus (χ^2 =5.450,P =0.020),and RCA originate from left Coronary sinus + LCA high location (P =0.024).Conclusions:There exists some difference in CCAAs between Uyghur and Han ethnic groups.The CCAAs incidence of Uyghur is higher than that of Han,especially in male patients and on the left side; among all kinds of CCAAs,the incidence of LCA high location,RCA originate from left coronary sinus,RCA originate from left coronary sinus + LCA high locations of Uyghur is higher than Han.
基金Supported by the National Natural Science Foundation of China,No. 81701930
文摘BACKGROUND Hemifacial microsomia(HFM)is a rare congenital malformation characterized by a combination of various anomalies,including the face,ears,eyes,and vertebrae.Prenatal diagnosis for HFM is possible,and quite accurate ultrasound can detect obvious defects.The etiology is still unknown,although some hypotheses have been proposed,including gene mutation,chromosome anomaly,and environmental risk factors.However,there are few reports of pulmonary hypoplasia and dextrocardia in HFM.CASE SUMMARY A 2-year-old boy presented to the ear reconstruction department of our hospital complaining of deviation of the face to the right side and auricular anomaly.Physical examination revealed facial asymmetry,preauricular skin tags,and concha-type microtia with stricture of the external auditory canal on the right side.Head magnetic resonance imaging showed bilateral semicircular canal dysplasia and bilateral internal auditory canals stenosis.Audiometric examination showed bilateral severe sensorineural hearing loss.Chest radiography and computed tomography showed dextrocardia and right pulmonary hypoplasia.CONCLUSION This case presented a rare finding and an unusual association of 3 malformations,ipsilateral HFM,pulmonary agenesis,and dextrocardia.
文摘<strong>Introduction:</strong><b><span style="font-family:;" "=""> </span></b><span style="font-family:Verdana;">Scrotoschisis is a very rare congenital defect of the scrotum characterized by the exteriorization of one or two testes. We report a case of right scrotoschisis in a newborn as well as a review of the literature for an approach of probable etiology.</span><span style="font-family:;" "=""> </span><b><span style="font-family:Verdana;">Patient and Observation:</span></b><b><span style="font-family:;" "=""> </span></b><span style="font-family:Verdana;">A newborn baby of 8 hours of life, weighing 3200</span><span style="font-family:;" "=""> </span><span style="font-family:Verdana;">g was referred to our department for a right scrotal defect with exteriorization of the testis associated with fluid swelling of the left bursa. The 18-year-old mother, primiparous and primigeste followed all the prenatal consultations with eutocic delivery. After clinical investigation the diagnosis of right scrotosisis and left hydrocele was retained. Surgical treatment was carried out by primary closure after orchidopexy and exploration of the contralateral bursa, the content of which was calcified meconium bathed in a yellowish liquid. The post-operative consequences were simple.</span><span style="font-family:;" "=""> </span><b><span style="font-family:Verdana;">Conclusion:</span></b><b><span style="font-family:;" "=""> </span></b><span style="font-family:Verdana;">Scrotoschisis is an extremely rare birth defect whose etiology is poorly understood. However, it could be the cause of meconium peritonitis secondary to a scarred f</span><span style="font-family:Verdana;">a</span><span style="font-family:Verdana;">tal intestinal perforation.</span>
文摘The abnormal origin of the right coronary artery from the left aortic sinus coursing between the aorta and the pulmonary trunk is a rare congenital anomaly. It may remain asymptomatic or may result in cardiac morbidity or mortality. In the past, an anomalous origin of the right coronary artery from the left sinus of Valsalva was considered a benign finding;it is now evident that this anomaly can be associated with atypical chest pain, myocardial ischemia, and sudden death. We thought that;the diagnosis of left sinus Valsalva aneurysm, described by transtorasic echocardiography and transeusophageal echocardiography, might need demonstrated advanced scanning techniques.
基金This work was supported by the Grant NSFC-81800602 from National Natural Science Foundation of China(Dr.Jia-Lu Liu)the Grant 20184Y0176 from Shanghai Municipal Commission of Health and Family Planning Youth Research Program(Dr.Jia-Lu Liu)+2 种基金the Grant SHDC12016107 from Shanghai Shenkang Hospital Developmental Center(Dr.Hong Xu)the Grant NSFC-81670609 from National Natural Science Foundation of China(Dr.Hong Xu)the Grant 2018YFA0801102 from National Key Research and Development Project(Dr.Hong Xu).
文摘Background Primary vesicoureteral reflux(VUR)is a common congenital anomaly of the kidney and urinary tract(CAKUT)in childhood.The present study identified the possible genetic contributions to primary VUR in children.Methods Patients with primary VUR were enrolled and analysed based on a national multi-center registration network(Chinese Children Genetic Kidney Disease Database,CCGKDD)that covered 23 different provinces/regions in China from 2014 to 2019.Genetic causes were sought using whole-exome sequencing(WES)or targeted-exome sequencing.Results A total of 379 unrelated patients(male:female 219:160)with primary VUR were recruited.Sixty-four(16.9%)children had extrarenal manifestations,and 165(43.5%)patients showed the coexistence of other CAKUT phenotypes.Eighty-eight patient(23.2%)exhibited impaired renal function at their last visit,and 18 of them(20.5%)developed ESRD at the median age of 7.0(IQR 0.9–11.4)years.A monogenic cause was identified in 28 patients(7.39%).These genes included PAX2(n=4),TNXB(n=3),GATA3(n=3),SLIT2(n=3),ROBO2(n=2),TBX18(n=2),and the other 11 genes(one gene for each patient).There was a significant difference in the rate of gene mutations between patients with or without extrarenal complications(14.1%vs.6%,P=0.035).The frequency of genetic abnormality was not statistically significant based on the coexistence of another CAKUT(9.6%vs.5.6%,P=0.139,Chi-square test)and the grade of reflux(9.4%vs.6.7%,P=0.429).Kaplan–Meier survival curve showed that the presence of genetic mutations did affect renal survival(Log-rank test,P=0.01).PAX2 mutation carriers(HR 5.1,95%CI 1.3–20.0;P=0.02)and TNXB mutation carriers(HR 20.3,95%CI 2.4–168.7;P=0.01)were associated with increased risk of progression to ESRD.Conclusions PAX2,TNXB,GATA3 and SLIT2 were the main underlying monogenic causes and accounted for up to 46.4%of monogenic VUR.Extrarenal complications and renal function were significantly related to the findings of genetic factors in children with primary VUR.Like other types of CAKUT,several genes may be responsible for isolated VUR.
基金J.R.is supported by National Natural Science Foundation of China(NSFC-8182207)Shanghai Academic/Technology Research Leader(19XD1420600)Chinese Academy of Medical Sciences(2019-RC-HL_020).
文摘Kidney disease is manifested in a wide variety of phenotypes,many of which have an important hereditary component.To delineate the genotypic and phenotypic spectrum of pediatric nephropathy,a multicenter registration system is being imple-mented based on the Chinese Children Genetic Kidney Disease Database(CCGKDD).In this study,all the patients with kidney and urological diseases were recruited from 2014 to 2020.Genetic analysis was conducted using exome sequencing for families with multiple affected individuals with nephropathy or clinical suspicion of a genetic kidney disease owing to early-onset or extrarenal features.The genetic diagnosis was confirmed in 883 of 2256(39.1%)patients from 23 provinces in China.Phenotypic profiles showed that the primary diagnosis included steroid-resistant nephrotic syndrome(SRNS,23.5%),glomerulonephritis(GN,32.2%),congenital anomalies of the kidney and urinary tract(CAKUT,21.2%),cystic renal disease(3.9%),renal calcinosis/stone(3.6%),tubulopathy(9.7%),and chronic kidney disease of unknown etiology(CKDu,5.8%).The pathogenic variants of 105 monogenetic disorders were identified.Ten distinct genomic disorders were identified as pathogenic copy number variants(CNVs)in 11 patients.The diagnostic yield differed by subgroups,and was highest in those with cystic renal disease(66.3%),followed by tubulopathy(58.4%),GN(57.7%),CKDu(43.5%),SRNS(29.2%),renal calcinosis/stone(29.3%)and CAKUT(8.6%).Reverse phenotyping permitted correct identification in 40 cases with clinical reassessment and unexpected genetic conditions.We present the results of the largest cohort of children with kidney disease in China where diagnostic exome sequencing was performed.Our data demonstrate the utility of family-based exome sequencing,and indicate that the combined analysis of genotype and phenotype based on the national patient registry is pivotal to the genetic diagnosis of kidney disease.