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Prenatal Diagnosis of an Apically Located Congenital Left Ventricular Aneurysm: A Rare Case
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作者 Yücel Kaya And Yavuz +3 位作者 Hasan Berkan Sayal Büşra Tsakir Gökalp Kabacaoğlu Kadriye NilayÖzcan 《Congenital Heart Disease》 SCIE 2024年第1期123-129,共7页
Congenital ventricular aneurysm is a very rare cardiac anomaly.A diagnosis can be made during the prenatal period using fetal echocardiography.This study presents a very rare apically located left ventricular aneurysm... Congenital ventricular aneurysm is a very rare cardiac anomaly.A diagnosis can be made during the prenatal period using fetal echocardiography.This study presents a very rare apically located left ventricular aneurysm case,and the relevant literature was reviewed and discussed.In this case,a 35-year-old,gravida 2,parity 1 preg-nant woman at 24 weeks of gestation,displayed a wide aneurysmal image in the left ventricular apical wall on fetal echocardiography.There was a 1.79 mm muscular ventricular septal defect at the apical region of the interven-tricular septum.In the course of the color Doppler ultrasonography examination,an aberrantfibrous band within the left ventricle and consequent turbulentflow during systole were observed.The baby,born via cesarean section at 37 weeks of gestation,is now in its postnatal seventh month.However,during echocardiographic follow-ups,changes have been observed,including mild to moderate mitral insufficiency and a decrease in systolic function.Despite thesefindings,the clinical condition remains asymptomatic.It is of great importance to use a multidis-ciplinary approach in managing these rare cases that could lead to potential adverse outcomes during the antena-tal or postnatal periods. 展开更多
关键词 Heart aneurysm prenatal diagnosis ECHOCARDIOGRAPHY congenital heart defects left ventricle
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Prenatal diagnosis of congenital fetal heart abnormalities and clinical analysis 被引量:10
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作者 李辉 魏军 +1 位作者 马影 尚涛 《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》 SCIE CAS CSCD 2005年第9期903-906,共4页
Objective: To study the value of detecting fetal congenital heart disease (CHD) using the five transverse planes technique of fetal echocardiography. Methods: Nine hundred and eighty-two high-risk pregnancies for feta... Objective: To study the value of detecting fetal congenital heart disease (CHD) using the five transverse planes technique of fetal echocardiography. Methods: Nine hundred and eighty-two high-risk pregnancies for fetal CHD were included in this study, the fetal heart was scanned with the five transverse planes technique of fetal echocardiography described by Yagel, autopsy was conducted when pregnancy was terminated. Blood from fetal heart was collected for fetal chromosome analysis. A close follow-up was given for normal fetal heart pregnancies and neonatal echocardiography was performed to check the accuracy of prenatal diagnosis. Results: (1) Forty-six cases (4.68%) were found to have fetal heart abnormalities in this study, 69.56% of them were diagnosed by single four-chamber view, another 30.43% fetal CHD were found by combining other views; (2) Forty-one parents of prenatal fetuses with CHD chose to terminate pregnancy, thirty-two of them gave consent to conduct autopsy, 93.75% of which yielded unanimous conclusion between prenatal fetal echocardiography and autopsy; (3) Thirty-two of 46 cases underwent fetal chromosome analysis, 8 cases (25%) were found to have abnormal chromosome; (4) Five cases were found to have right ventricle and atrium a little bigger than those on the left side, with the unequal condition being the same after birth, but there were no clinical manifestations and they are healthy for the time being; (5) Nine hundred and thirty-six cases were not found with abnormality in this study, but one case was diagnosed with ventricular septal defect after birth, one case was diagnosed with patent ductus arteriosus, one case had atrial septal defect after birth. Conclusions: (1) The detected CHD rate was 4.68% by screening fetal heart with five transverse planes according to Yagel’s description of high risk population basis for CHD. The coinciding rate of prenatal diagnosis and autopsy was 93.75%; (2) The sensitivity of detecting fetal heart abnormality is 92%, the specificity is 99.6% using the five transverse planes technique of fetal echocardiography; (3) Fetuses with mild or moderate disproportion of right and left side in the heart are potentially healthy babies. 展开更多
关键词 FETUS HEART abnormALITY PRENATAL diagnosis
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Extra Renal Rhabdoid Tumor: A Rare Cause of Congenital Soft Tissue Tumor
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作者 Tazi Charki Mohammed Akammar Amal +4 位作者 Dardar Hajar Abdellaoui Hicham Atarraf Karima Boubou Meryem Afifi Moulay Abderrahmane 《Open Journal of Pediatrics》 2024年第3期579-584,共6页
Rhabdoid tumors (RTs) are a well-defined entity in the kidney or central nervous system of infants or children. However, soft-tissue involvement is uncommon. It’s an exceptional neonatal tumor of soft tissue. The ima... Rhabdoid tumors (RTs) are a well-defined entity in the kidney or central nervous system of infants or children. However, soft-tissue involvement is uncommon. It’s an exceptional neonatal tumor of soft tissue. The imaging characteristics of this tumor are not specific. Biopsy allows diagnosis;the histomorphological characteristics of rhabdoid tumors, their immunoreactivity to epithelial markers and vimentin, and the INI-1 loss are important tools for diagnosis. RT tumors are aggressive and have a rapidly fatal clinical course in most cases. Despite multidisciplinary therapy, the survival rate is very low. We report a rare case occurring in a male neonate who presents at birth with a voluminous right axillary mass. A CT scan showed a well-limited tumor mass with lobulated contours. An ultrasound-guided biopsy was performed on day 8, showing the morphology and immunoprofile of RT. The mass showed rapid growth. The child was admitted for respiratory distress at 3 weeks. A thoraco-abdominal CT showed an increase in the size of the mass with the appearance of multiple lymph nodes and pleural, hepatic, and renal metastases. The child died two days later. 展开更多
关键词 congenital Rhabdoid Tumor Soft Tissue diagnosis IMMUNOHISTOCHEMISTRY INI-1
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Congenital Hernia of the Diaphragmatic Dome with Neonatal Revelation, Experience from the Neonatology and Neonatal Intensive Care Unit at the University Hospital Center of Oujda
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作者 Addou Bebana Anass Ayyad +2 位作者 Mohammed Ec-Chebab Sahar Messaoudi Rim Amrani 《Open Journal of Pediatrics》 2024年第5期790-799,共10页
Congenital hernia of the diaphragmatic dome (CHDD) is an embryonic malformation in which all or part of the diaphragmatic dome fails to develop properly. In the majority of cases (80% to 90%), this malformation affect... Congenital hernia of the diaphragmatic dome (CHDD) is an embryonic malformation in which all or part of the diaphragmatic dome fails to develop properly. In the majority of cases (80% to 90%), this malformation affects the left posterolateral part of the diaphragm, while in 10% to 15% of cases it affects the right. Bilateral cases are extremely rare, accounting for less than 1% of cases. This malformation is estimated to occur at a frequency of around 1 in 3500 births, with a male predominance. The diaphragmatic defect causes the abdominal organs to rise into the thoracic cavity during critical phases of lung development. These anomalies result in bilateral pulmonary hypoplasia, a reduced number of pulmonary vessels, and pulmonary arterial hypertension (PAH). The combination of these anatomical and functional anomalies, in varying degrees, explains the wide variability of symptoms at birth. Diagnosis is usually made prenatally by ultrasound, which enables severe forms of the disease to be detected and appropriate management initiated. The prognosis remains generally grave, with a neonatal mortality rate of between 30% and 60% depending on the study, and around half of all children will have long-term sequelae. 展开更多
关键词 congenital Diaphragmatic Hernia Prenatal diagnosis Pulmonary Hypoplasia Pulmonary Hypertension Medical-Surgical Treatment
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A DiGeorge Syndrome Case Report—Challenges of Diagnosis and Management
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作者 Dumitru Amoasii 《Open Journal of Internal Medicine》 2024年第3期278-286,共9页
Background: DiGeorge syndrome (also known as velo-cardio-facial syndrome) is a rare multisystem genetic disorder occurring in approximately 1 in 4000 to 1 in 6000 live births [1]. Although advances in genetic screenin... Background: DiGeorge syndrome (also known as velo-cardio-facial syndrome) is a rare multisystem genetic disorder occurring in approximately 1 in 4000 to 1 in 6000 live births [1]. Although advances in genetic screening have improved diagnosis in developed countries, the condition remains underdiagnosed in developing nations such as the Republic of Moldova, where access to genetic testing and family planning services is limited. Routine prenatal screening usually includes regular ultrasounds, monitoring of blood pressure, complete blood counts, coagulation studies, glucose, urine protein, and urine culture. Current ultrasound techniques have limitations in detecting this syndrome due to variability in interpretation, and genetic testing is often performed based on clinical discretion. The ultrasound could potentially point towards a genetic problem, as in DiGeorge, if multiple cardiac malformations are spotted in utero, but most cases such as this one are diagnosed after birth while being described as totally normal on prenatal ultrasound. Purpose: This study aims to highlight the diagnostic challenges and the need for comprehensive evaluation in identifying DiGeorge syndrome, emphasizing the importance of considering the syndrome as a whole rather than focusing on isolated organ system issues. Method: We present a case report of a 6-month-old girl who, after an uneventful pregnancy and normal prenatal ultrasound, presented with cardiac insufficiency. Following extensive investigations and multiple surgical interventions, DiGeorge syndrome was diagnosed at 9 months of age. Results: The patient’s diagnosis was delayed due to the lack of prenatal markers and the reliance on separate investigations of affected organ systems. Despite several interventions aimed at managing her symptoms, the final diagnosis was made after observing the association of multiple clinical features and conducting comprehensive genetic testing. Conclusions: This case underscores the importance of a holistic approach to diagnosis, which involves a thorough patient history, integration of diverse diagnostic tests, and recognition of the syndrome’s multi-system nature. It highlights the necessity for improved diagnostic protocols and increased awareness in regions with limited access to advanced genetic testing to prevent delays in identifying DiGeorge syndrome and to facilitate timely and appropriate management. 展开更多
关键词 DIGEORGE Velo-Cardio-Facial TBX-1 Gene Chromosome 22 22q11.2 Deletion Septal Defect IMMUNODEFICIENCY Thymic Shadow congenital Cardiac abnormalities Prenatal Screening
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Multi-modality imaging review of congenital abnormalities of kidney and upper urinary tract 被引量:13
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作者 Subramaniyan Ramanathan Devendra Kumar +4 位作者 Maneesh Khanna Mahmoud Al Heidous Adnan Sheikh Vivek Virmani Yegu Palaniappan 《World Journal of Radiology》 CAS 2016年第2期132-141,共10页
Congenital abnormalities of the kidney and urinary tract(CAKUT) include a wide range of abnormalities ranging from asymptomatic ectopic kidneys to life threatening renal agenesis(bilateral). Many of them are detected ... Congenital abnormalities of the kidney and urinary tract(CAKUT) include a wide range of abnormalities ranging from asymptomatic ectopic kidneys to life threatening renal agenesis(bilateral). Many of them are detected in the antenatal or immediate postnatal with a significant proportion identified in the adult population with varying degree of severity. CAKUT can be classified on embryological basis in to abnormalities in the renal parenchymal development, aberrant embryonic migration and abnormalities of the collecting system. Renal parenchymal abnormalities include multi cystic dysplastic kidneys, renal hypoplasia, number(agenesis or supernumerary), shape and cystic renal diseases. Aberrant embryonic migration encompasses abnormal location and fusion anomalies. Collecting system abnormalities include duplex kidneys and Pelvi ureteric junction obstruction. Ultrasonography(US) is typically the first imaging performed as it is easily available, noninvasive and radiation free used both antenatally and postnatally. Computed tomography(CT) and magnetic resonance imaging(MRI) are useful to confirm the ultrasound detected abnormality, detection of complex malformations, demonstration of collecting system and vascular anatomy and more importantly for early detection of complications like renal calculi, infection and malignancies. As CAKUT are one of the leading causes of end stage renal disease, it is important for the radiologists to be familiar with the varying imaging appearances of CAKUT on US, CT and MRI, thereby helping in prompt diagnosis and optimal management. 展开更多
关键词 congenital abnormalities KIDNEY URINARY TRACT Multi cystic dysplastic KIDNEYS Pelvi ureteric junction obstruction Computed tomography urography congenital abnormalities of the KIDNEY and URINARY TRACT End stage renal disease Horse shoe KIDNEYS
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ValueofDigitalX—RayPhotographyinDiagnosisofCongenitalHeartDisease 被引量:5
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作者 侯建新 李光民 《中国全科医学》 CAS CSCD 北大核心 2011年第24期2821-2822,共2页
目的探讨数字化X线摄影在先天性心脏病诊断中的应用价值。方法收集我院2009-01-01—10-31经数字化X线摄影检查阳性并经临床随访或手术证实的先天性心脏病患者97例,对其临床及影像学资料进行回顾性分析。结果 97例患者中,房间隔缺损46例... 目的探讨数字化X线摄影在先天性心脏病诊断中的应用价值。方法收集我院2009-01-01—10-31经数字化X线摄影检查阳性并经临床随访或手术证实的先天性心脏病患者97例,对其临床及影像学资料进行回顾性分析。结果 97例患者中,房间隔缺损46例(47.4%),动脉导管未闭17例(17.5%),室间隔缺损13例(13.4%),法洛四联症5例(5.2%),肺动脉瓣狭窄3例(3.1%),镜面右位心4例(4.1%),右位主动脉弓7例(7.2%),其他复杂畸形2例(2.1%)。X线表现为:肺血增多、肺血减少及心影形态失常。结论数字化X线摄影准备简单、安全、快捷,禁忌证少,整体感强,同时还是术后随访的重要检查手段,目前仍然能够为先天性心脏病的诊断提供独特和有价值的信息。 展开更多
关键词 数字化X线摄影 先天性心脏病 诊断
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A possible association between cervical erosion in pregnant women and congenital abnormalities in their children-a population-based case-control study 被引量:2
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作者 Ferenc Bánhidy Nándor ács +1 位作者 Erzsébet H. Puhó Andrew E. Czeizel 《Health》 2010年第8期945-950,共6页
Objective to study the possible association between erosion of cervix in pregnant women (ECP) and structural birth defects, i.e. congenital abnormalities (CA) in their offspring. Study design: Comparison of cases with... Objective to study the possible association between erosion of cervix in pregnant women (ECP) and structural birth defects, i.e. congenital abnormalities (CA) in their offspring. Study design: Comparison of cases with CA and all matched controls without any CA born to wo- men with prospectively and medical record ECP in the population-based large data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities (HCCSCA). Results: HCC- SCA contained 22,843 cases and 38,151 matched controls, the informative offspring of 40 (0.18%) case mothers and the newborns of 25 control mothers (0.07%) with ECP were compared and the higher risk for total CA (adjusted OR with 95% CI: 2.7, 1.6-4.4) was found explained by the higher risk of 9 cases with hypospadias (OR with 95% CI: 4.5, 2.1-9.7) and 10 cases with car-diovascular CAs (OR with 95% CI: 3.4, 1.6-7.1), particularly with conotruncal CAs. Conclusions: An unexpected possible association of ECP with higher risk for hypospadias and conotrun-cal cardiovascular CAs was found and these findings are considered as signals that need confirmation or 展开更多
关键词 Erosion of CERVIX in PREGNANT Women Birth Outcomes congenital abnormalities HYPOSPADIAS Cardiovascular MALFORMATIONS
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Antenatal Diagnosis and Outcome of 12 Congenital Cystic Adenomatoid Malformation of Lung 被引量:1
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作者 Xue-lian LI Yu-qing ZHOU +2 位作者 Jue-hua ZHANG Ying-liu YAN Xiao-tian LI 《Journal of Reproduction and Contraception》 CAS 2007年第4期289-295,共7页
Objective To investigate the ultrasonic detection probability, type, prenatal diagnosis, and outcome of congenital cystic adenomatoid malformation of lung (CCAM). Methods In this retrospective study, all 12 cases wh... Objective To investigate the ultrasonic detection probability, type, prenatal diagnosis, and outcome of congenital cystic adenomatoid malformation of lung (CCAM). Methods In this retrospective study, all 12 cases which were diagnosed with suspected prenatal CC,4M over the period in the hospital were analyzed. Information on diagnosis time, types and progression of the lesions during pregnancy, the additional abnormalities, and the outcome of pregnancies were recorded.Results The positive rate of ultrasonic detection of CCAM was about 1.01‰ (1/11 124) before 28 gestation weeks. There were 1 case of type Ⅰ (8%), 2 cases of type Ⅱ (17%) and 9 cases of type Ⅲ (75%). Nine pregnancies were terminated and 2 cases were confirmed by pathology. Three neonates were alive and without any symptom now. Conclusions Type Ⅲ is the major type. Ultrasound examination during 20-28 weeks and following up, prenatal consultation, chromosome examination offetus, delivery with a pediatrician standing by, and all suspected neonates being investigated are recommended. 展开更多
关键词 congenital cystic adenomatoid malformation of lung ultrasonic detection TYPE prenatal diagnosis OUTCOME
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Usefulness of prenatal magnetic resonance imaging in differential diagnosis of fetal congenital cystic adenomatoid malformation and bronchopulmonary sequestration 被引量:1
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作者 Zhi Li Yi-Dan Lv +4 位作者 Rong Fang Xu Li Zhi-Qin Luo Ling-Hong Xie Ling Zhu 《World Journal of Clinical Cases》 SCIE 2021年第4期822-829,共8页
BACKGROUND Congenital cystic adenomatoid malformation(CCAM)and bronchopulmonary sequestration(BPS)are the most common lung diseases in fetuses.There are differences in the prognosis and treatment of CCAM and BPS,and t... BACKGROUND Congenital cystic adenomatoid malformation(CCAM)and bronchopulmonary sequestration(BPS)are the most common lung diseases in fetuses.There are differences in the prognosis and treatment of CCAM and BPS,and the clinical diagnosis and treatment plan is usually prepared prior to birth.Therefore,it is quite necessary to make a clear diagnosis before delivery.CCAM and BPS have similar imaging features,and the differentiation mainly relies on the difference in supply vessels.However,it is hard to distinguish them due to invisible supplying vessels on some images.AIM To explore the application value of magnetic resonance imaging(MRI)in the differential diagnosis of fetal CCAM and BPS.METHODS Data analysis for 32 fetuses with CCAM and 14 with BPS diagnosed by prenatal MRI at Huzhou Maternal and Child Health Care Hospital and Anhui Provincial Children’s Hospital from January 2017 to January 2020 was performed to observe the source blood vessels of lesions and their direction.Pathological confirmation was completed through CT examination and/or operations after birth.RESULTS After birth,31 cases after birth were confirmed to be CCAM,and 15 were confirmed to be BPS.The CCAM group consisted of 21 macrocystic cases and 10 microcystic cases.In 18 cases,blood vessels were visible in lesions.Blood supply of the pulmonary artery could be traced in eight cases,and in 10 cases,only vessels running from the midline to the lateral down direction were observed.No lesions were found in four macrocystic cases and one microcystic case with CCAM through CT after birth;two were misdiagnosed by MRI,and three were misdiagnosed by prenatal ultrasonography.The BPS group consisted of 12 intralobar cases and three extralobar cases.Blood vessels were visible in lesions of nine cases,in four of which,the systemic circulation blood supply could be traced,and in five of which,only vessels running from the midline to the lateral up direction were observed.Three were misdiagnosed by MRI,and four were misdiagnosed by prenatal ultrasonography.CONCLUSION CCAM and BPS can be clearly diagnosed based on the origin of blood vessels,and correct diagnosis can be made according to the difference in the direction of the blood vessels,but it is hard distinguish microcystic CCAM and BPS without supplying vessels.In some CCAM cases,mainly the macrocystic ones,the lesions may disappear after birth. 展开更多
关键词 congenital cystic adenomatoid malformation Bronchopulmonary sequestration Magnetic resonance imaging Differential diagnosis FETUSES congenital
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Diagnosis and treatment discussion of congenital factor VII deficiency in pregnancy:A case report 被引量:1
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作者 Ying Yang Ya-Chang Zeng +2 位作者 Pingkan Rumende Chen-Guang Wang Yue Chen 《World Journal of Clinical Cases》 SCIE 2021年第21期6091-6101,共11页
BACKGROUND Congenital factor VII deficiency(FVIID)is a rare autosomal recessive genetic disorder.The clinical manifestations of this deficiency vary greatly.Predicting the risk of bleeding during and after childbirth ... BACKGROUND Congenital factor VII deficiency(FVIID)is a rare autosomal recessive genetic disorder.The clinical manifestations of this deficiency vary greatly.Predicting the risk of bleeding during and after childbirth of pregnant women with congenital FVIID is difficult.Recombinant factor VIIa is the most common replacement therapy for FVIID.However,no unified diagnosis and treatment plan for pregnant women with congenital FVIID has been established.CASE SUMMARY We report the clinical history of a pregnant woman who was considered to have congenital FVIID.Recombinant factor VIIa was prophylactically administered to the pregnant woman at the time of cervical fully opening.She successfully delivered a live infant without any complications,such as postpartum hemorrhage,neonatal abnormalities,and so on.CONCLUSION Prophylaxis of recombinant factor VIIa during delivery can effectively reduce the incidence of postpartum hemorrhage among pregnant women with congenital FVIID associated with a high risk of bleeding. 展开更多
关键词 Alternative treatment congenital factor VII deficiency diagnosis and treatment plan PREGNANCY Perinatal management Case report
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Diagnosis and treatment of congenital choledochal cyst: 20 years' experience in China 被引量:19
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作者 Liu-Bin Shi~1 Shu-You Peng~1 Xing-Kai Meng~1 Cheng-Hong Peng~1 Ying-Bin Liu~1 Xiao-Peng Chen~1 Zhen-Ling Ji~2 De-Tong Yang~2 Huai-Ren Chen~2 1 Department of Surgery,The Second Affiliated hospital of Zhejiang University School of Medicine,Hangzhou 310009,China2 Department of Surgery,Affiliated Zhongda Hospital of Southeast University,Nanjing 210009,China 《World Journal of Gastroenterology》 SCIE CAS CSCD 2001年第5期732-734,共3页
AIM: To summarize the experience of diagnosis and treatment of congenital choledochal cyst in the past 20 years (1980-2000). METHODS: The clinical data of 108 patients admitted from 1980 to 2000 were analyzed retrospe... AIM: To summarize the experience of diagnosis and treatment of congenital choledochal cyst in the past 20 years (1980-2000). METHODS: The clinical data of 108 patients admitted from 1980 to 2000 were analyzed retrospectively. RESULTS: Abdominal pain,jaundice and abdominal mass were presented in most child cases. Clinical symptoms in adult cases were non-specific, resulting in delayed diagnosis frequently. Fifty-seven patients (52.7%) had coexistent pancreatiobiliary disease. Carcinoma of the biliary duct occurred in 18 patients (16.6%).Ultrasonic examination was undertaken in 94 cases, ERCP performed in 46 cases and CT in 71 cases. All of the cases were correctly diagnosed before operation. Abnormal pancreatobiliary duct junction was found in 39 patients. Before 1985 the diagnosis and classification of congenital choledochal cyst were established by ultrasonography preoperatively and confirmed during operation, the main procedures were internal drainage by cyst enterostomy. After 1985, the diagnosis was established by ERCP and CT, and cystectomy with Roux-en-Y hepaticojejunostomy was the conventional procedures.In 1994, we reported a new and simplified operative procedure in order to reduce the risk of choledochal cyst malignancy. Postoperative complication was mainly retrograde infection of biliary tract, which could be controlled by the administration of antibiotics, there was no perioperative mortality. CONCLUSION: The concept in diagnosis and treatment of congenital choledochal cyst has obviously been changed greatly.CT and ERCP were of great help in the classification of the disease.Currently, cystectomy with Roux-en-Y hepaticojejunostomy is strongly recommended as the choice for patients with type I and type IV cysts. Piggyback orthotopic liver transplantation is indicated in type V cysts (Caroli's disease) with frequently recurrent cholangitis. 展开更多
关键词 ADOLESCENT Adult Aged Anastomosis Roux-en-Y CHILD Child Preschool China Choledochal Cyst Female Humans Male Middle Aged Postoperative Complications Retrospective Studies Treatment Outcome
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A case of 9p deletion syndrome with congenital infantile glaucoma,effective method of diagnosis,and treatment 被引量:1
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作者 Xu Jia Xu-Yang Liu Xuan-Chu Duan 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2017年第2期318-320,共3页
Dear Editor,I am Dr.Jia X from the Department of Ophthalmology,Second Xiangya Hospital,Central South University,Changsha,China.I write to present a rare case report of 9p deletion syndrome with congenital infantile gl... Dear Editor,I am Dr.Jia X from the Department of Ophthalmology,Second Xiangya Hospital,Central South University,Changsha,China.I write to present a rare case report of 9p deletion syndrome with congenital infantile glaucoma in an infant,accompanying with an effective method of both diagnosis and treatment. 展开更多
关键词 CASE A case of 9p deletion syndrome with congenital infantile glaucoma effective method of diagnosis and treatment IOP
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Congenital Abnormalities of Kidneys and Urinary Tract in Children at the Dakar University Hospital
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作者 Kéita Younoussa Thiongane Aliou +4 位作者 Sow Ndeye Fatou Ndongo Aliou Abdoulaye Abdoul Aziz Faye Akpo L. Geraud Sylla Assane 《Open Journal of Pediatrics》 CAS 2022年第3期529-537,共9页
Congenital abnormalities of the kidneys and urinary tract (CAKUT) represent all the morphological abnormalities associated with a disorder of the embryonic development of the kidneys and their excretory tract. Its pre... Congenital abnormalities of the kidneys and urinary tract (CAKUT) represent all the morphological abnormalities associated with a disorder of the embryonic development of the kidneys and their excretory tract. Its prevalence is underestimated in developing countries compared to developed countries. This was a cross-sectional and descriptive study between January 1st, 2015 and February 28th, 2020, carried out in the pediatric department of Aristide Le Dantec Hospital. The prevalence of CAKUT was 8.77% for all pediatric nephrologic pathologies (n = 58), the median age at diagnosis was 77.28 months and the sex ratio was 1.6. The circumstances of the discovery of CAKUT were dominated by urinary tract infection (n = 21), the antenatal diagnosis was poor (n = 13) and confusion between cysts and calyx dilation in antenatal was noted. Ultrasound was the main postnatal imaging test requested. The most common renal abnormality was kidney cysts (n = 18) (cystic kidneys and multicystic dysplastic kidney) and the most common urological abnormality was the posterior urethral valves (n = 8). Kidney failure was a pejorative factor in the evolution of these CAKUT. 展开更多
关键词 Urinary Tract Antenatal diagnosis congenital abnormalities CHILDREN
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Role of SOX2 in foregut development in relation to congenital abnormalities
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作者 Kim Schilders Joshua K Ochieng +3 位作者 Cornelis P van de Ven Cristina Gontan Dick Tibboel Robbert J Rottier 《World Journal of Medical Genetics》 2014年第4期94-104,共11页
The uptake of the two essential ingredients for life, oxygen and nutrients, occurs primarily through the oral cavity, but these two lifelines need to be separated with high accuracy once inside the body. The two syste... The uptake of the two essential ingredients for life, oxygen and nutrients, occurs primarily through the oral cavity, but these two lifelines need to be separated with high accuracy once inside the body. The two systems, the gas exchange pulmonary system and the gastro-intestinal feeding system, are derived from the same primitive embryonic structure during development, the foregut, which need to be separated before birth. In certain newborns, this separation occurs not or insufficiently, leading to life threatening conditions, sometimes incompatible with life. The development of the foregut, trachea and lungs is influenced and coordinated by a multitude of signaling cascades and transcription factors. In this review, we will highlight the development of the foregut and pulmonary system and focus on associated congenital abnormalities in light of known genetic alterations with specific attention to the transcription factor SOX2. 展开更多
关键词 SOX2 congenital FOREGUT abnormalities LUNG development
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The Difficulties of Congenital Syphilis Diagnosis about 3 Cases at Libreville, Gabon
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作者 C. M. Essomo Megnier-Mbo S. Mayi +3 位作者 Y. Vierin A. Ndjoyi Biguino J. Koko A. Moussavou 《Open Journal of Pediatrics》 2014年第2期121-128,共8页
First described embryo fetopathy, congenital syphilis remains a public health problem mostly in developing countries. The diagnosis mainly based on bacteriological and immunological evidence of mother-child couple is ... First described embryo fetopathy, congenital syphilis remains a public health problem mostly in developing countries. The diagnosis mainly based on bacteriological and immunological evidence of mother-child couple is not always easy, as it is shown in our three clinical cases. Those three clinical observations demonstrate the difficulties encountered in the diagnosis of congenital syphilis in our country where only the TPHA (Treponema Pallidum Haemaglutination Assay) and VDRL (Venereal Disease Research Laboratory) tests are the only ones to be routinely carried out. Actually, these tests can be negative at the earliest stage of the syphilis or in case of zonal phenomenon. In addition, maternal antibodies could be found in child blood, even if the baby is in good health. At last, the child could have been contaminated belatedly while tests were negative at the third month of pregnancy. Congenital syphilis still exists in our developing countries and, in order to better manage this pathology, a proposition of an efficient algorithm is submitted. 展开更多
关键词 congenital SYPHILIS diagnosis DIFFICULTIES Libreville GABON
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Clinical manifestations and prenatal diagnosis of Ullrich congenital muscular dystrophy: A case report
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作者 Jun Hu Yan-Hui Chen +2 位作者 Xin Fang Yu Zhou Feng Chen 《World Journal of Clinical Cases》 SCIE 2022年第1期338-344,共7页
BACKGROUND Ullrich congenital muscular dystrophy(UCMD)is one of the collagen-VI-related myopathies caused by mutations of COL6A1,COL6A2,and COL6A3 genes.Affected individuals are characterized by muscle weakness,proxim... BACKGROUND Ullrich congenital muscular dystrophy(UCMD)is one of the collagen-VI-related myopathies caused by mutations of COL6A1,COL6A2,and COL6A3 genes.Affected individuals are characterized by muscle weakness,proximal joint contracture,distal joint hyperlaxity,and progressive respiratory failure.There is currently no cure for UCMD.Here,we report the clinical manifestations and prenatal diagnosis of compound heterozygous mutations of the COL6A2 gene in a Chinese family with UCMD.CASE SUMMARY A 3-year-old boy,his 4-year-old brother,their parents,and a 20-wk-old fetus in the mother’s womb were included in the study.The brothers had the typical manifestations of the early-severe subtype:A delayed motor milestone(never walking independently),torticollis,scoliosis,proximal joint contracture,distal joint hyperextension,right hip joint dislocation,and calcaneal protuberance.Both brothers were found by whole-exome sequencing and Sanger sequencing to carry two mutations of the COL6A2 gene(c.1353_c.1354insC,p.Arg453Profs-Ter42/c.2105G>A,p.Trp702Ter).The absence of collagen VI staining in the younger brother’s muscle was identified accurately.Genetic counseling and prenatal diagnosis were crucial for the family,as the autosomal recessive genetic disease affected a quarter of the patient’s siblings.The fetus of the mother’s third child underwent prenatal diagnosis and carried the same two mutations of COL6A2,confirmed in the amniotic fluid by multiplex ligation-dependent probe amplification and short tandem repeats.After a painful psychological struggle,the parents finally decided to terminate the pregnancy.CONCLUSION We report a Chinese family suffering from UCMD.By clarifying the COL6A2 mutations in the probands,the parents had the opportunity to opt for voluntary interruption of the third UCMD pregnancy. 展开更多
关键词 Ullrich congenital muscular dystrophy COL6A2 MUTATION Prenatal diagnosis Case report
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ABNORMALITIES OF ERG IN CONGENITAL ANIRIDIA
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作者 Lezheng Wu Qiaoyun Ma Ybuzhao Chen De-Zheng Wu Taiqing Luo Zhongshan Ophthalmic Center Sun Yat-sen University of Medical Sciences Guangzhou 510060, China 《眼科学报》 1991年第3期151-152,119,共3页
Congenital aniridia is generally associated with nystagmus, corneal pannus, cataract, ectopia lentis, glaucoma, macular hypoplasia, optic nerve hypoplasia and compromised visual function. Many theories have been propo... Congenital aniridia is generally associated with nystagmus, corneal pannus, cataract, ectopia lentis, glaucoma, macular hypoplasia, optic nerve hypoplasia and compromised visual function. Many theories have been proposed, including a failure in the development of the neural ectoderm and/or an aberrant development of mesoderm. We observed the ERG from 19 patients with congenital aniridia. Fourteen patients had abnormal ERG, including the reduced a wave trough under dark adapted red stimuli with dark adap... 展开更多
关键词 ERG abnormalities OF ERG IN congenital ANIRIDIA
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A unified model for diagnosing energy usage abnormalities in regional integrated energy service systems 被引量:4
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作者 Di Wu Hongwei Ma +3 位作者 Jianrong Mao Kaiqi Ma Hao Zheng Zhiqian Bo 《Global Energy Interconnection》 2019年第4期361-367,共7页
An integrated energy service company in an industrial park or commercial building is responsible for managing all energy sources in their local region, including electricity, water, gas, heating, and cooling. To reduc... An integrated energy service company in an industrial park or commercial building is responsible for managing all energy sources in their local region, including electricity, water, gas, heating, and cooling. To reduce energy wastage and increase energy utilization, it is necessary to perform efficiency analyses and diagnoses on integrated energy systems(IESs). However, the integrated energy data necessary for energy efficiency analyses and diagnoses come from a wide variety of instruments, each of which uses different transmission protocols and data formats. This makes it challenging to handle energy-flow data in a unified manner. Thus, we have constructed a unified model for diagnosing energy usage abnormalities in IESs. Using this model, the data are divided into working days and non-working days, and benchmark values are calculated after the data have been weighted to enable unified analysis of several types of energy data. The energy-flow data may then be observed, managed, and compared in all aspects to monitor sudden changes in energy usage and energy wastage. The abnormal data identified and selected by the unified model are then subjected to big-data analysis using technical management tools, enabling the detection of user problems such as abnormalities pertaining to acquisition device, metering, and energy usage. This model facilitates accurate metering of energy data and improves energy efficiency. The study has significant implications in terms of fulfilling the energy saving. 展开更多
关键词 INTEGRATED ENERGY services ENERGY efficiency analysis ENERGY USAGE diagnosis ENERGY USAGE abnormalities UNIFIED model
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Pregnancy and Congenital Uterine Anomalies: Case Series
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作者 Ako Annabel Mangwi Akoh Simon Nji +3 位作者 Mpono Pascale Mendibi Sandrine Belinga Etienne Noa Ndoua Claude Cyrille 《Open Journal of Obstetrics and Gynecology》 CAS 2023年第4期802-813,共12页
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
关键词 congenital Uterine Anomalies diagnosis PREGNANCY MANAGEMENT
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