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Sample records for non-operated congenital choledochal

  1. Congenital choledochal cysts in adults: twenty-five-year experience

    Institute of Scientific and Technical Information of China (English)

    LIU Ying-bin; CAO Li-ping; PENG Shu-you; WANG Jian-wei; Khagendra Raj Devkota; JI Zhen-ling; LI Jiang-tao; WANG Xu-an; MA Xiao-ming; CAI Wei-long; KONG Ying

    2007-01-01

    Background Choledochal cyst is rare in western countries. The relatively high incidence of coexistent hepatobiliary disease increases the difficulty of the surgical management of choledochal cyst. Here we analyze the diagnosis and treatment of congenital bile duct cyst in 122 Chinese adults.Methods The clinical data of 122 patients with congenital choledochal cysts admitted from 1981 to 2006 were analyzed.Results Clinical symptoms in most cases were nonspecific, resulting in delayed diagnosis. Sixty-one patients (50%) had coexistent pancreatobiliary disease. Among the 122 patients, 119 patients underwent ultrasonic examination;ERCP/MRCP was performed in 63 cases and CT in 102 cases. Abnormal pancreatobiliary duct junction was found in 48 patients. Sixteen patients had malignant lesions in the bile duct, arising in 11 of them from incomplete choledochal cyst that underwent various operations including cystenterostomy or cystojejunostomy. There was significant difference between the patients who underwent incomplete cyst resection and complete cyst resection in malignancy rate of bile duct (Chi square test, P= 0.000; odds ratio, 7.800; 95 % confidence interval, 2.450 to 24.836).Conclusions ERCP, CT and MRCP had proved their great values in the classification of the disease. Cyst excision with Roux-en-Y hepaticojejunostomy is recommended as the treatment of choice for patients with type Ⅰ or type Ⅳ cysts. For type Ⅴ cyst (Caroli's disease) with recurrent cholangitis, liver transplantation should be considered.

  2. CONGENITAL CHOLEDOCHAL CYST--REPORT OF 56 CASES

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    Objective.The aim of this paper is to describe the mechanism, clinical manifestation, diagnosis and surgical management of congenital choledochal cyst. Methods. From 1984 to 1997, 56 cases of congenital choledochal cyst were reviewed. Among them, 8 patients were male, 48 patients were female, the age ranges from 12 to 50 years old with an average of 26.3.Results.The main clinical manifestation includes jaundice, abdominal pain and abdominal mass. All of them were confirmed by ultrasonography, while 39 cases were performed ERCP and PTC with the same diagnosis. Fifty-one patients were performed cystectomy and hepatojejunostomy, two cases were performed cystjejunostomy because of diffused angioma and severe hemorrhage respectively, external drainage was performed in one case with emergent cholangitis, the other two cases were reported malignancy through biopsy and operation was abandoned.Conclusions. Ultrasound diagnostics is essential to accurately diagnose the cyst, preoperative ERCP is helpful for differentiating pancreatic duct from bile duct, while MRCP is a reliable method; cystectomy and cholangiojejunostomy is recommended, laparoscopic procedure is becoming more and more accepted.

  3. Newborn male presented with congenital diaphragmatic hernia and choledochal cyst: A case report

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    Daniel Krebs

    2015-05-01

    Full Text Available Infants with congenital diaphragmatic hernia (CDH have an increased incidence of associated malformations, ranging from 10% to 50% higher than the general population [1–5]. Choedochal cysts, congenital cystic dilations of the biliary tree, are anomalies that have not yet been described in association with CDH. We describe a patient with a left congenital diaphragmatic hernia who was later diagnosed with a choledochal cyst.

  4. Diagnosis and treatment of Congenital choledochal cyst:20 years'experience in China

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    Liu-BJn Shi; Shu-You Peng; Xing-Kai Meng; Cheng-Hong Peng; Ying-Bin Liu; Xiao-Peng Cheni; Zhen-Ling Ji; De-Tong Yang; Huai-Ren Chen

    2001-01-01

    AIM To summarize the experience of diagnosis and treatment of congenital choledochal cyst in the past 20years ( 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 \\ cysts (Carolis disease) with frequently recurrent cholangitis.``

  5. Helical CT cholangiography and MR cholangiography in postoperative patients with congenital choledochal cyst

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    Koshinaga, Tugumichi; Ikeda, Taro; Hagiwara, Noritsugu; Nonaka, Michiaki; Fukuzawa, Masahiro [Nihon Univ., Tokyo (Japan). School of Medicine

    2000-01-01

    Cholangitis and intrahepatic cholelithiasis have been reported as hepatic complications long after total cyst excision in patients with congenital choledochal cyst. The aim of this study was to identify the hepatic ductal features and compare the findings obtained by Helical CT cholangiography (HCTC) with those by MR-cholangiography (MRC). Hepatic ductal configurations of 12 patients who had undergone total excision of the extrahepatic bile duct were examined by HCTC and MRC. HCTC and MRC are useful for identifying hepatic ductal dilatation, although HCTC is better described for the anastomotic site of hepaticojejunostomy and hepatic ductal stenosis, in the postoperative follow-up of patients. Early detection of hepatic ductal configurations is of great importance in the long-term follow-up. (author)

  6. Congenital choledochal cyst: findings in US, CT and gammagraphy. Quiste congenito de coledoco: hallazgos en US, TC y gammagraphy

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    Montenegro Gaite, T.; Garrido Serrano, A.; Fernandez Cruz, J.; Gutierrez Martin, C.; Alcantara Gijon, F.; Leal Noval, M. (Hospital Universitario Virgen del Rocio. Sevilla (Spain))

    1993-01-01

    We report two cases of congenital choledochal cyst, the first signs of which were recurring episodes of nonspecific abdominal pain, accompanied by nausea and vomiting. The ultrasound (ES) study demonstrates the existence of an anechoic mass at the level of the hepatic hilus which, in one case, presents hyperechogenic zones with no posterior acoustic shadow. These findings were confirmed by means of computed tomography (CT). ''99 Tc-HIDA scintigraphy reveals a pronounced delay in the clearance of the tracer from the bile duct into duodenum, with late appearance of a cystic area at the level of the hepatic hilus. Endoscopical retrograde cholangiopancreatorgraphy (ERCP) performed in one of our patients shows, in addition to cystic dilation of the common bile duct, dilation of the cystic duct and of the common liver duct including its branches, as well as stenosis of the proximal duct of Wirsung, with dilation of its most distal portion. The purpose of this report is to assess the diagnostic methods employed and compare the results with the findings of other authors. (Author)

  7. Forty-year experience with flow-diversion surgery for patients with congenital choledochal cysts with pancreaticobiliary maljunction at a single institution.

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    Takeshita, Nobuhiro; Ota, Takehiro; Yamamoto, Masakazu

    2011-12-01

    Congenital choledochal cyst with pancreaticobiliary maljunction (PBM) is known as a high-risk factor for various complications such as cholangitis, pancreatitis, and carcinogenesis of the biliary system by mutual refluxes of bile and pancreatic juice. Furthermore, it is not rare to suffer from postoperative complications if the wrong operative procedure is chosen. Therefore, we sought to review the relationship between operative procedure for types I and IV-A (Todani's classification) congenital choledochal cyst with PBM, and long-term treatment outcome. A retrospective review was carried out of 144 patients who underwent flow diversion surgery in our institution during the 40-year period from 1968 to 2008 and who did not have a coexisting malignant tumor at the time of surgery. Of these 144 patients, 137 underwent complete cyst excision and 7 underwent pancreas head resection as flow diversion surgery. The follow-up periods ranged from 1 to 345 months and from 1 to 271 months (average, 100.2 and 94.1) in patients with type I and type IV-A cysts, respectively. Regarding surgical treatment outcome, postoperative progress was good in 130 (90.3%) of the 144 patients. Fourteen patients required hospitalization for long-term postoperative complications such as cholangitis, pancreatitis, intrahepatic calculi, pancreatic calculus, and carcinogenesis during postoperative follow-up. Of these, 2 patients who underwent surgery for type IV-A cysts died because of secondary biliary cirrhosis with liver failure and advanced intrahepatic cholangiocarcinoma, respectively. The present study shows that flow diversion surgery for congenital choledochal cysts with PBM significantly reduces the risk of subsequent development of malignancy in the biliary tract, and it is vital to choose the appropriate operative procedure to prevent occurrence of these postoperative complications.

  8. Total laparoscopic technique for congenital choledochal cyst%完全腹腔镜在先天性胆总管囊肿手术中的应用

    Institute of Scientific and Technical Information of China (English)

    段小辉; 蒋波; 毛先海; 田秉璋; 沈贤波; 吴金术

    2013-01-01

    Objective:To explore the application and technical points of total laparoscopic surgery for congenital choledochal cyst.Methods:The clinical data of 7 patients undergoing laparoscopic surgery for choledochal cyst from August 2011 to December 2012 were retrospectively analyzed.Results:Cyst excision and Roux-en-Y hepato-enteric anastomosis were successfully performed by laparoscopic procedures in 5 patients,and the operative time was 310-400 min,intraoperative blood loss was 50-100 mL and length of postoperative hospital stay was 5-7 d.Follow-up ranged from 3 to 19 months,and no postoperative complications or death occurred.Two patients were converted to open surgery due to severe inflammation of the choledochal cyst or bleeding.Conclusion:Total laparoscopic choledochal cyst excision and Roux-en-Y hepaticojejunostomy is a safe and feasible procedure with the advantages of minimal invasiveness and fast recovery for most cases of choledochal cyst.Excellent laparoscopic skills and teamwork is crucial for surgical success.%目的:探讨腹腔镜在先天性胆总管囊肿手术中的应用经验.方法:回顾性分析201 1年8月-2012年12月7例腹腔镜胆总管囊肿手术患者的临床资料.结果:5例患者在完全腹腔镜下完成胆总管囊肿切除和肝肠Roux-en-Y引流,手术时间为310~400 min,术中出血50~100 mL,术后住院时间5~7 d,术后随访3~19个月,未出现术后并发症,无死亡病例.2例因胆总管囊肿炎症重,渗血较多中转开腹完成手术.结论:完全腹腔镜胆总管囊肿切除和肝肠Roux-en-Y引流治疗先天性胆总囊肿是安全可行的,具有微创、术后恢复快等优点;熟练的腹腔镜技术,良好的团队配合是手术成功的关键.

  9. [Choledochal cyst].

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    Zeithaml, J; Třeška, V; Moláček, J; Heidenreich, F

    2015-09-01

    Choledochal cyst is a rare disease with a considerably higher incidence found in the Asian population. Although its etiology is not completely known, the disease is believed to be associated with anomalies in the anatomy of the biliary tract. While being a benign unit, it is considered as a precancerosis with the risk of conversion to the biliary tract carcinoma. Radical surgical removal with biliary tract reconstruction is the only curative solution. The authors present the case report of a patient with choledochal cyst type I according to Todani

  10. Ultra Sound Evaluation of Choledochal Cyst With Portal Hypertension

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    Alam P

    2016-05-01

    Full Text Available Choledochal cyst is an uncommon congenital cystic dilatation of the bile duct. The underlying etiology is believed to be an anomalous junction of the pancreatic duct and common bile duct (CBD that allows free reflux of pancreatic enzymes into the CBD, weakening its wall. Portal hypertension is a rare complication of choledochal cyst. We report a case of choledochal cyst with portal hypertension confirmed by surgery

  11. Choledochal cyst as a diagnostic pitfall: a case report

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    Waidner Uta

    2008-01-01

    Full Text Available Abstract Introduction Choledochal cysts are rare congenital anomalies. Their diagnosis is difficult, particulary in adults. Case presentation This case report demonstrates the diagnostic and therapeutic pitfalls. Conclusion To prevent cost-intensive and potentially life-threating complications, a choledochal cyst must be considered in the differential diagnosis whenever the rather common diagnosis of a hepatic cyst is considered.

  12. [Biliary peritonitis after traumatic rupture of a choledochal cyst].

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    Bouali, O; Trabanino, C; Abbo, O; Destombes, L; Baunin, C; Galinier, P

    2015-07-01

    Choledochal cysts are rare congenital malformations of the biliary tract. Traumatic rupture of a choledochal cyst can be misleading. An 11-year-old boy was admitted for peritonitis and intestinal occlusion after blunt abdominal trauma, evolving over 48 h. Laparotomy revealed bile ascites and a suspected duodenal perforation. After referral to our center, a CT scan showed a perforated choledochal cyst. Six months later, a complete excision of the cyst was successfully performed. This treatment is mandatory because of the risk of further complications such as lithiasis, pancreatitis, cholangitis, biliary cirrhosis, and malignant transformation (cholangiocarcinoma).

  13. Laparoscopic choledochal cyst excision and Roux-en-Y hepaticojejunostomy.

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    Kayaalp, Cüneyt; Soyer, Vural; Ersan, Veysel; Aydın, Cemalettin; Karagül, Servet

    2016-01-01

    Congenital choledochal cysts are rare in adults. Due to the risk of developing cholangiocarcinoma, the current standard of care is complete excision of the cyst and reconstruction with hepaticojejunostomy. So far, more than 200 laparoscopic resections have been reported in adults, the majority being from Far Eastern countries over the last five years. Herein, the technique of laparoscopic type I choledochal cyst excision and hepaticojejunostomy is presented in a 37-year-old male with an accompanying video. The advantages of laparoscopic surgery are applicable for choledochal cyst excision as well. We believe that teamwork, expertise on intracorporeal suturing and hepatobiliary surgery are central issues for this operation.

  14. The Reasons of Reoperation and Prevention in Congenital Choledochal Cyst%先天性胆总管囊肿再手术原因及预防

    Institute of Scientific and Technical Information of China (English)

    吴学东; 胡廷泽; 林春榕

    2001-01-01

    目的:分析先天性胆总管囊肿术后再手术原因及其预防措施。方法:对我院 1981年到 1999年收治的 112例先天性胆总管囊肿中再手术病例进行回顾性分析。结果: 112例中再手术 11例。早期再手术 4例,为胆总管囊肿切除、胆道重建术后 2~ 4d发生切口裂开、吻合口瘘、辅助外引流不畅等。远期因吻合口狭窄和盲袢综合征再手术各 1例,单纯囊肿引流术后返流性胆道感染再手术 5例 (其中 4例行胆总管囊肿切除、胆肠 Roux- Y吻合术,另 1例因胆总管穿孔引流术后腹腔广泛粘连作了囊肿空肠 Roux- Y式吻合术 ), 5例均于术中胆管空肠袢加做套叠瓣,全部获得治愈。结论:胆肠对等吻合、缝合严密和通畅引流可减少早期再手术;胆道返流、吻合口狭窄和盲袢存在是远期再手术的主要原因。囊肿切除、胆肠 Roux- Y吻合套叠瓣成形术可有效预防术后逆行性胆道感染。%Objective:Analyzed the reasons of reoperation in congenital choledochal cyst(CCC)and the ways of preventing.Method:11 reoperation cases were retrospective reviewed in 112 CCC patients in WCUMS from 1981 to 1999.Results:11 cases in 112 CCC patients underwent reoperation early and later after the first surgical procedure.4 children received reoperation 2- 4 days after cyst resection with a Roux- Y hepato je junostomy caused by the open of incition,anastomotic leakage and accessory drainage obstruction.7 cases underwent reoperation later after initiated operation (2 cases received anastomotic reconstruction and blindloop resection respectively after the cyst resection with a Roux- Y hepato je junostomy and 4 cases of another 5 underwent cyst resection with Roux- Y hepato je junostomy after cystoenterostomy;1 with Roux- Y cysto je junostomy after choledochostomy caused by choledoch perforation because of general adhering in abdomen)because of ascending cholangitis、 stoma

  15. Case of choledochal cyst presenting as perforation abdomen

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    Gobbur RH, Baradol R RV, Nyammannavar

    2013-01-01

    Full Text Available Choledochal cyst is an uncommon congenital anomaly of Hepoatobiliary system. It is a case of choledocal cyst presenting as perforation and biliary ascites which is rare in infants. Clinical picture: An infant was admitted at BLDE hospital with history of convulsion and breathlessness, on examination child had abdominal distension. Investigations like erect X ray abdomen done which revealed ascites with features of peritonitis, so exploratory laparotomy done which showed a choledochal cyst with perforation causing biliary ascites. Treatment: Child was treated in the pediatric intensive care unit for convulsion. Exploratory laparotomy done and the perforated choledochal cyst was sutured and drain placed in situ. The child improved from 2nd post operative day. Conclusion: Choledochal cyst can present as perforation, biliary ascites and peritonitis in infants. Therefore treatment should be oriented to this aspect also.

  16. Management of Adult Choledochal Cyst Coexisting with Gallbladder ...

    African Journals Online (AJOL)

    [1] It is a rare congenital anomaly which is, for unknown reasons, quite ... fever with chills and rigors. Physical ... Coexisting with Gallbladder Carcinoma: A Case Report and Review of. Literature. ... combination, and there is no evidence of recurrence during the ... differentiate choledochal cysts from other cause of obstructive.

  17. A Case Report on the Choledochal Cyst in Pregnancy

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    Sh Alizadeh

    2014-12-01

    Full Text Available Introduction: Choledochal cyst is a rare congenital abnormality of the biliary tract presented primarily in infants and young children. It is very uncommon for choledochal cyst to be demonstrated during pregnancy. In fact, its manifestations during pregnancy are nonspecific and variable. If symptoms of abdominal pain, and jaundice were observed, choledocal cyst should be considered as a differential diagnosis. MRI is regarded more reliable in order to diagnose the number and anatomic location of the cyst. Magnetic resonance cholangiopancratogeraphy is another diagnostic method which can be opted for in pregnancy. Moreover, Laprascopy can be utilized for the cyst fenestration treatment.

  18. Choledochal cysts in infants and children.

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    Poddar, U; Thapa, B R; Chhabra, M; Rao, K L; Mitra, S K; Dilawari, J B; Singh, K

    1998-07-01

    To study the clinical spectrum and management of choledochal cyst in children below 12 years of age. Descriptive study. Tertiary care hospital. Twenty three children with choledochal cysts were managed between January 1991 to September 1997 and their clinical details, investigations and management were recorded. Choledochal cyst was diagnosed by ultrasonography and confirmed by ERCP or peroperative cholangioram (POC) Children were treated with antibiotics and/or percutaneous transhepatic biliary drainage if there was cholangitis and subsequently subjected to surgery (excision of the cyst and jejunal loop interposition hepaticoduodenostomy). The median age of these children was 3 years with an almost equal sex ratio. Predominant presentation was jaundice in 18, pain abdomen in 15, fever in 12, and lump abdomen in 9 cases. The classical triad of jaundice, pain and lump was present in only 4 cases. ERCP conducted in 7 and POC in 14 cases yielded positive findings in all. Clinically there were two distinct forms of presentation: (i) infantile form (childhood form (> 1 year) presented with pain abdomen in 12 and jaundice and cholangitis in 9 subjects each. Type I cyst was seen in 20 and type IVa in 3. Two children refused surgery, and the rest underwent surgery. Three infants died after surgery, the remaining 18 were alive and well on follow-up (median 25 months). Secondary biliary cirrhosis was seen in 6, extra hepatic biliary artresia in 2 and congenital hepatic fibrosis in 1 on histology. Choledochal cysts present in two clinically distinct forms. Infantile form is an important cause of cholestasis of infancy. Early diagnosis and referral is essential to prevent complications and death, and prognosis after surgery is good.

  19. 先天性胆管扩张症光镜和透射电镜观察及其临床意义%Pathological and Clinical Study of Congenital Choledochal Cyst

    Institute of Scientific and Technical Information of China (English)

    李昭铸; 陶文芳; 韩福友; 王凤兰; 李权

    1994-01-01

    对15例先天性胆管扩张症进行光镜、电镜及组织化学观察,发现胆总管壁病变严重,且扩张段与狭窄段的病变存在一定差异,结合胆汁淀粉酶水平(平值3048.08U),提示狭窄段的存在系先天发育异常与异常胰胆管合流共同作用的结果.%Fifteen cases of type-Ⅰ congenital choledochal cyst (CCC)were treated in our department from 1990 to 1993.Mean age of patients was 7 years.All the patients underwent excision of the cyst and reconstruction of the bile duct.Light and electron microscopic and histochemical studies of the dilated and the constricted portions of the excised cysts were made.The pathological changes were obvious.The level of amylase in bile increased in all cases.at mean value of 3048.08u.It is thought that the formation of the stricture portion of CCC is resulted from the conjunct effect of the congenital dysplasia and abnormal pancreatobiliary junction.

  20. A case report of an unusual type of choledochal cyst with choledocholithiasis: Saccular dilatation of the confluent portion of both intrahepatic ducts

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    Kim, Jin Young; Kim, Hee Jin; Han, Hyun Young [Dept. of Radiology, Eulji University Hospital, Daejeon (Korea, Republic of)

    2015-10-15

    A choledochal cyst is a rare congenital anomaly of the biliary system manifested as the cystic dilatation of bile ducts, usually occurring in the common bile duct. Here, we describe an unusual type of choledochal cyst in a 45-year-old male that did not fit into the most widely accepted Todani classification of these cysts. The lesion mimicked duplication anomalies of the gallbladder and was finally diagnosed as a choledochal cyst involving the confluent portion of both intrahepatic ducts.

  1. Prenatal diagnosis of choledochal cyst using magnetic resonance imaging: A case report

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    Alex Mun-Ching Wong; Yun-Chung Cheung; Yu-Hung Liu; Koon-Kwan Ng; Siu-Cheung Chan; Shu-Hang Ng

    2005-01-01

    Choledochal cysts are congenital anomalies of the biliary ducts, characterized by cystic dilatation of the ducts.Prenatal diagnosis of this anomaly using ultrasonography (US) has been well documented. Magnetic resonance imaging (MRI) has recently become an important complement to US in prenatal diagnosis of fetal anomalies. We herein report a patient in whom at 24 wk' gestation US suggested a right upper quadrant abdominal cyst and in whom at 26 wk' gestation MRI more clearly delineated the cyst and its surrounding structures and suggested a choledochal cyst, which was confirmed at postnatal surgery and histopathology.

  2. A rare case of choledochal cyst with pancreas divisum: case presentation and literature review.

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    Ransom-Rodríguez, Adrián; Blachman-Braun, Ruben; Sánchez-García Ramos, Emilio; Varela-Prieto, Jesús; Rosas-Lezama, Erick; Mercado, Miguel Ángel

    2017-02-01

    Choledochal cysts are rare congenital malformations of the bile duct characterized by dilatations of the intrahepatic and/or extrahepatic portion of the biliary tree, they are associated to an anomalous arrangement of the pancreaticobiliary duct. Pancreas divisum results from a fusion failure of the pancreatic buds. The coexistence of pancreas divisum and choledochal cyst in adults has been reported in less than 10 well documented cases. This article presents a case of a 42-year-old Peruvian man with intermittent episodes of abdominal pain, initially diagnosed with choledocholithiasis, who underwent open cholecystectomy. During surgery, a diagnosis of choledochal cyst and pancreas divisum was made, and therefore a hepaticoduodenostomy was performed. The patient was referred to our hospital due to persistence of abdominal pain. After admission, a papillectomy was achieved without further complications. A cyst resection and dismantling of hepaticoduodenostomy with Roux-en-Y was performed 8 years later. During the subsequent 18-month follow-up, the patient remains asymptomatic.

  3. Spontaneous rupture of choledochal cyst: case report

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    Shin, Ho Seob; Nam, Kyung Jin; Lee, Jin Hwa; Kim, Chan Sung; Choi, Jong Cheol; Oh, Jong Young [Dong-a University College of Medicine, Pusan (Korea, Republic of)

    2002-11-01

    Spontaneous rupture of a choledochal cyst leading to biliary peritonitis is a rare complication which can be fatal if not promptly diagnosed. The authors report the ultrasound and CT findings of two cases of spontaneous choledochal cystic rupture and the biliary peritonitis which ensued.

  4. Cisto gigante de colédoco Giant choledochal cyst

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    Olival Cirilo Lucena da Fonseca-Neto

    2007-12-01

    Full Text Available INTRODUÇÃO: A doença cística das vias biliares é anomalia congênita que pode acometer as vias biliares intra e/ou extra-hepáticas. A extra-hepática inclui os cistos de colédoco e a intra-hepática é conhecida por Doença de Caroli. Os cistos de colédoco de tamanho gigante são muito raros. OBJETIVO: Relatar o caso de um cisto de colédoco de tamanho gigante em uma paciente feminina. RELATO DE CASO: Mulher de 19 anos foi admitida com história de icterícia e acolia fecal há sete dias. Referia dor epigástrica associada com ingestão de dieta rica em gordura. Nos antecedentes pessoais relatou dois episódios de icterícia, aos 8 e 14 anos, que progrediram espontaneamente. No exame físico apresentava icterícia (+3/+4 e uma massa palpável indolor em mesogástrio foram os únicos achados. A ultrassonografia demonstrou grande formação cística de paredes finas adjacente ao hepatocolédoco, pâncreas e rim direito que media 18,5 x 10,2 cm. A colangioressonância confirmou o grande cisto de colédoco e hepatojejunoanastomose em "Y" de Roux após excisão do cisto e colecistectomia foi realizada. A formação cística media 20 x 15,5 x 12,5 cm e com um volume médio de 1000 mL. A paciente encontra-se em acompanhamento ambulatorial sem alterações hepatobiliares após o sétimo mês da operação. CONCLUSÃO: O cisto de colédoco deve fazer parte do diagnóstico diferencial em pacientes adultos jovens com icterícia e massa palpável; no entanto, a diferenciação entre ele e neoplasia maligna deve ser pesquisada.BACKGROUND: Choledochal cyst represents a rare congenital anomaly, eventually associated with intra and extrahepatic biliary tract disorders. Extrahepatic diseases include choledochal cysts and congenital dilation of the lower intrahepatic bile duct is known as Caroli's disease. Giant choledochal cyst constitutes a very rare abnormality. AIM:To report a giant choledochal cyst in a female patient. CASE REPORT: A 19-year

  5. Gallbladder Volvulus in a Patient with Type I Choledochal Cyst: A Case Report and Review of the Literature

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    George Younan

    2016-01-01

    Full Text Available Introduction. Gallbladder volvulus is a rare, potentially fatal condition unless diagnosed and treated early. Choledochal cysts are rare congenital malformations of the biliary tree predisposing to different pathologies and posing the risk of degradation into cholangiocarcinoma and gallbladder cancer. Dealing with both diseases at once has not been published yet in the literature. Presentation of Case. We report a case of gallbladder volvulus in an elderly female who happened to have a concomitant type I choledochal cyst. Treatment was achieved with a cholecystectomy and observation and follow-up of the choledochal cyst. Discussion. Prompt diagnosis and surgical management of gallbladder volvulus is important to avoid the morbidity and mortality of gangrenous cholecystitis and biliary peritonitis in a frail old population of patients. Precise clinical diagnosis, supplemented with specific imaging clues, helps in the diagnosis. Management of choledochal cysts is also surgical; however the timing of surgery is still a matter of debate. Conclusion. We describe in this report the first case of gallbladder volvulus in a patient with a choledochal cyst and propose a management algorithm of a very rare biliary tree pathology combination.

  6. 经腹腔镜手术治疗3个月内婴儿先天性胆总管囊肿%Laparoscopic-assisted treatments of congenital choledochal cyst in 3 months infant

    Institute of Scientific and Technical Information of China (English)

    周崇高; 王海阳; 许光; 邹婵娟; 夏仁鹏; 赵凡; 马体栋; 李碧香

    2016-01-01

    目的:探讨经腹腔镜行囊肿切除、肝管空肠 Roux-en-Y 吻合治疗3个月以内先天性胆总管囊肿的可行性和治疗效果。方法本院2011年7月至2015年7月经腹腔镜手术治疗的3个月以内先天性胆总管囊肿患儿41例,其中男13例,女28例,均为囊肿型;手术年龄8~89 d,平均(50.2±23)d,体重2.7~6.47 kg,平均(4.47±1.01)kg。33例合并黄疸,8例大便颜色变浅,7例出现白陶土样便;31例术前检查转氨酶升高。全部病例均采用经腹腔镜完整囊肿切除,肝管空肠 Roux-en-Y 吻合术。结果40例患儿成功完成手术,手术时间117~296 min,平均(186±42)min,出血量<5 mL;1例损伤门静脉,中转开腹,出血50 mL;术后无一例发生肠瘘、胆瘘和胰瘘;随访5~53个月,无胆管狭窄、胆管炎、粘连性肠梗阻等发生。结论3个月以内婴儿胆总管囊肿容易发生肝功能损害、肝脏纤维化,应尽早手术治疗。经腹腔镜手术治疗先天性胆总管囊肿安全有效。%Objetive To study the treatment efficiency and the feasibility of in laparoscopic-assisted to-tal cyst excision of choledochal cyst with Roux-en-Y hepatoenterostomy in 3 months infant.Methods A retro-spective analysis was made on 41 cases of choledochal cyst under 3 months infants treated in our hospital from July 2010 to July 2015.Among them,28 were female and 13 were male,with their age ranging from 8 day to 89 days (mean 50.2 ±23 days),and the choledochal cysts were all cyst type.Their weight ranged from 2.7 to 6. 47 kg(mean 4.47 ±1.01).Among all the cases,33 patients were found with jaundice,8 with Stools colorless,7 with white pottery clay;31 with transaminase elevation in the preoperative examination.The operation method was laparoscopic-assisted total cyst excision of choledochal cyst with Roux-en-Y hepatoenterostomy. Re-sults Laparoscopic operation was finished successfully in 40 infants

  7. Choledochal cyst Todani IA case report

    Directory of Open Access Journals (Sweden)

    Ana Karen Medina Lira

    2016-01-01

    Conclusion: Laparoscopic surgery is a safe way with a shorter length of stay, less postoperative morbidity and a lower blood loss when compared with open approach. This technique is also favorable from a cosmetic viewpoint. With the improvement of laparoscopic techniques and deftness of surgeons practice, laparoscopic surgery may become the first choice procedure for choledochal cyst.

  8. Choledochal cysts: our ten year experience.

    LENUS (Irish Health Repository)

    Cianci, F

    2012-04-01

    We present our experience in the management of choledochal cysts from 1999 to 2009. A retrospective review of all charts with a diagnosis of choledochal cysts in our institution in this ten-year period. Data was collated using Excel. A total of 17 patients were diagnosed with choledochal cyst: 9 females and 8 males. The average age at diagnosis was 28 months (range from 0 to 9 years). The most common presenting symptoms were obstructive jaundice 6 (35%) and abdominal pain and vomiting 4 (23%). Ultrasound (US) was the initial diagnostic test in all cases with 4 patients requiring further investigations. All patients underwent Roux-en-Y Hepaticojejunostomy. The average length of stay was 11 days. Patients were followed up with Liver Function Tests (LFTS) and US 4-6 weeks post-operatively. Three patients developed complications including post-op collection, high drain output requiring blood transfusion and adhesive bowel obstruction. Our overall experience with choledochal cyst patients has been a positive one with effective management and low complication rates.

  9. Mixed typeⅠ andⅡ choledochal cyst in an adult

    Institute of Scientific and Technical Information of China (English)

    Nitin Agarwal; Sunil Kumar; Abdul Hai; Ritesh Agrawal

    2009-01-01

    BACKGROUND: Choledochal cysts are classiifed into ifve types based on the location of the cyst. Mixed types of choledochal cysts are extremely rare. Only ifve cases of mixed typeⅠ andⅡ choledochal cysts have been reported, of which one was an adult case. We report a mixed typeⅠandⅡ choledochal cyst in a 25-year-old man. METHODS: The unusual nature of the choledochal cyst, suspected on magnetic resonance cholangiopancreatography RCP to be typeⅠ initially, was conifrmed by laparotomy to be a mixed typeⅠ+Ⅱ cyst. Excision of the cyst and hepaticojejunostomy were performed. RESULT: The operation was uneventful, and the patient recovered well. CONCLUSIONS: Mixed type choledochal cysts are rare, and may be missed on imaging, unless careful evaluation is done. The operative method may not need to be modiifed signiifcantly, as in the management of our case.

  10. Giant choledochal calculosis: Surgical treatment

    Directory of Open Access Journals (Sweden)

    Hasan Bektas

    2014-01-01

    Full Text Available Context: Gallstone disease is one of the most common surgical pathologies. Choledocholithiasis may occur in some of these cases and require surgical intervention. Although there are relatively non-invasive procedures such as endoscopic retrograde cholangiopancreatography (ERCP, this technique is usually unsuccessful in patients with stones larger than 10 mm. In our case, we aimed to report a giant choledochal stone (15 cm × 4.5 cm, which is rare in surgical practice and our treatment with open surgery. Case Report: The patient was a 59-year-old woman. Magnetic resonance cholangiopancreatography (MRCP had showed a hydropic gallbladder with an excessively dilated CBD and a 110 mm × 41 mm stone. In the operation, an excessively dilated CBD was seen and after choledochotomy and a very large calculus that filled CBD completely. Choledochotomy incision was carried forward and a T-tube choledochostomy with choledochoduodenostomy (CD was performed. The patient was discharged without any complications on postoperative 8 th day. Conclusion: Benign gallstone disease is a multifactorial process, with risk factors such as obesity, hemolytic diseases, diabetes mellitus, and pregnancy. Risk factors for choledocholithiasis are similar to those for gallstone disease. MRCP is a non-invasive technique in detecting choledocholithiasis. The gold standard intervention for CBD stones is ERCP. Stones in CBD may reach very considerable dimensions without causing serious symptoms. The most common symptom is jaundice. During preoperative radiological examination, giant stones may be interfered with malignancies. Surgeons should obey conventional algorithms in diagnosis and open surgery must be kept in mind in earlier stages without being too insistent on endoscopic interventions.

  11. A rare case of choledochal cyst with pancreas divisum: case presentation and literature review

    Science.gov (United States)

    Blachman-Braun, Ruben; Sánchez-García Ramos, Emilio; Varela-Prieto, Jesús; Rosas-Lezama, Erick; Mercado, Miguel Ángel

    2017-01-01

    Choledochal cysts are rare congenital malformations of the bile duct characterized by dilatations of the intrahepatic and/or extrahepatic portion of the biliary tree, they are associated to an anomalous arrangement of the pancreaticobiliary duct. Pancreas divisum results from a fusion failure of the pancreatic buds. The coexistence of pancreas divisum and choledochal cyst in adults has been reported in less than 10 well documented cases. This article presents a case of a 42-year-old Peruvian man with intermittent episodes of abdominal pain, initially diagnosed with choledocholithiasis, who underwent open cholecystectomy. During surgery, a diagnosis of choledochal cyst and pancreas divisum was made, and therefore a hepaticoduodenostomy was performed. The patient was referred to our hospital due to persistence of abdominal pain. After admission, a papillectomy was achieved without further complications. A cyst resection and dismantling of hepaticoduodenostomy with Roux-en-Y was performed 8 years later. During the subsequent 18-month follow-up, the patient remains asymptomatic. PMID:28317046

  12. Technical points of total laparoscopic choledochal cyst excision

    Institute of Scientific and Technical Information of China (English)

    L(U) Shao-cheng; SHI Xian-jie; WANG Hong-guang; LU Fang; LIANG Yu-rong; LUO Ying; JI Wen-bin

    2013-01-01

    Background Choledochal cyst excision and biliary enteric reconstruction constitute the best therapy for choledochal cyst.And laparoscopy is currently used to cure this disease now.Methods We retrospectively analyzed the clinical data of 34 cases of total laparoscopic choledochal cyst excision between January 2007 and August 2011.All patients underwent in vitro Roux-en-Y hepatoenterostomy.Results All 34 patients underwent successful total laparoscopic choledochal cyst excision.The operation time was 200-360 minutes.The duration of hospital stay was 3-7 days.Follow-up observations lasted 1-56 months.One patient developed an anastomotic stoma stricture,but no other cases had postoperative complications.No patients died.Conclusion Total laparoscopic choledochal cyst excision is safe and feasible.

  13. An impressive choledochal cyst and its surgical resection

    Directory of Open Access Journals (Sweden)

    Nhu Thao Nguyen Galván

    2017-01-01

    Conclusion: Although rare, physicians need to keep this diagnosis in mind, and be aware of the clinical and imaging findings consistent with a choledochal cyst in order to facilitate appropriate work up, referral and treatment.

  14. 胆道闭锁、胆总管囊肿与巨细胞病毒感染%Biliary Atresia and Congenital Choledochal Cyst and the Infection of Cytomengalovlrus

    Institute of Scientific and Technical Information of China (English)

    王慧贞; 李正; 黎明; 吕绳敏; 刘兰青; 吴佩英; 刘春复

    1989-01-01

    为探讨胆道闭锁及胆总管囊肿与病毒感染的关系,作者进行了研究.结果发现9例胆道闭锁患儿有2例从肝组织中检出巨细胞病毒,5例胆总管囊肿患儿有2侈4从肝组织中,1例从唾液腺中检出巨细胞病毒.阳性率为35.7%.作者认为,胆道闭锁、胆总管囊肿专巨细病毒感染关系密切.%Nine cases of biliary atresia (BA) and 5 cases of congenital choledechal cyst (CCC) have been studied since 1985.Their HBsAg were all neagtive.The virus has been separated from the preoperetive urine,the liver biopsies intraoperatively and salivery gland obtained at autopsy.It was further identified by cell sensitivity test,inderect immunofluorescence test,anticomplement immunofluorescence test and monoclonal antibody indirect immunofluorescence test.The cytomegalovirus (CMV) was found in the liver in 2 cases of 9 BA (22.2%),and 2 cases of 5 CCC,and in one of the 2 CCC are found in urine simultaneously,from the salivery gland in another case after death (60%).The positive rate totals is 35.7%.The results indicate that the infection of cytomegalovirus in the patients with biliary anomalies is commen (35.7%).CMV might come from the mother's uterus.

  15. Giant Choledochal Cyst Mimicking Massive Gallbladder Hydrops in an Adult Patient: Multi Detector Computed Tomography and Magnetic Resonance Imaging Findings Correlated to Gross and Histopathological Findings

    Directory of Open Access Journals (Sweden)

    Joon-Il Choi

    2013-01-01

    Full Text Available Choledochal cysts are uncommon congenital anomalies of the biliary tree, commonly presenting in infancy, generally in the 1 st year of life. Presentation in adult life is less common, accounting for 20% of cases. A 19-year-old female patient presented to the Emergency Department with severe abdominal distension, a palpable abdominal mass, mild jaundice and low grade fever. Ultrasound, computed tomography (CT and magnetic resonance imaging of the abdomen showed a massive septated cystic lesion filling the entire abdomen with a significant mass effect on surrounding structures. Origin of the lesion was unclear and diagnosis included a giant mesenteric or duplication cyst, massive gallbladder with hydrops, biliary cystadenoma and giant choledochal cyst, among others. Final diagnosis was a Type IA choledochal cyst with massive asymmetric cystic dilatation of the extra-hepatic segments of the left hepatic duct with asymmetric dilatation of the right hepatic duct. Patient had an uneventful recovery after resection of the entire extrahepatic cyst and Roux-en-Y hepaticojejunostomy at the level of the hilum. In this article, we correlate CT and MRI findings to gross and histopathological findings of this giant Todani′s Type IA choledochal cyst.

  16. Anomalous arrangement of the pancreatobiliary ductal system in patients with a choledochal cyst.

    Science.gov (United States)

    Todani, T; Watanabe, Y; Fujii, T; Uemura, S

    1984-05-01

    An anomalous arrangement of the pancreatobiliary ductal system is usually observed in patients with a congenital choledochal cyst and is represented by a long common channel distal to the pancreatobiliary junction. According to the angle of the pancreatobiliary junction, anomalous junctions can be classified into four groups: right angle, acute angle, complex union, and normal union (presented here in the order of their incidence). The right-angle type tends to have cystic dilatation of the choledochus, whereas the acute-angle type generally has cylindrical dilatation. However, the grade and length of the stenosis on the distal part of the choledochus tend to determine the type of choledochal cyst. Cystic dilatation is usually observed in patients with high-grade and long stenosis, whereas cylindrical dilatation is seen in those with low-grade and short stenosis. Patients with an acute angle junction seem to only suffer from abdominal pain, and those in the complex union group tend to have jaundice and an abdominal tumor. A high amylase level in the bile within the cyst is observed frequently. In patients with obstructive jaundice, however, the amylase level is usually not elevated, because pancreatic juice cannot enter the choledochus.

  17. Development and Congenital Anomalies of the Pancreas

    OpenAIRE

    Hiroyuki Tadokoro; Masaru Takase; Bunsei Nobukawa

    2011-01-01

    Understanding how the pancreas develops is essential to understand the pathogenesis of congenital pancreatic anomalies. Recent studies have shown the advantages of investigating the development of frogs, mice, and chickens for understanding early embryonic development of the pancreas and congenital anomalies, such as choledochal cysts, anomalous pancreaticobiliary junction, annular pancreas, and pancreas divisum. These anomalies arise from failure of complete rotation and fusion during embryo...

  18. Development and Congenital Anomalies of the Pancreas

    Directory of Open Access Journals (Sweden)

    Hiroyuki Tadokoro

    2011-01-01

    Full Text Available Understanding how the pancreas develops is essential to understand the pathogenesis of congenital pancreatic anomalies. Recent studies have shown the advantages of investigating the development of frogs, mice, and chickens for understanding early embryonic development of the pancreas and congenital anomalies, such as choledochal cysts, anomalous pancreaticobiliary junction, annular pancreas, and pancreas divisum. These anomalies arise from failure of complete rotation and fusion during embryogenesis. There are many theories in the etiology of congenital anomalies of the pancreas. We review pancreas development in humans and other vertebrates. In addition, we attempt to clarify how developmental failure is related to congenital pancreatic anomalies.

  19. Biliary manometry in choledochal cyst with abnormal choledochopancreatico ductal junction.

    Science.gov (United States)

    Iwai, N; Tokiwa, K; Tsuto, T; Yanagihara, J; Takahashi, T

    1986-10-01

    Intraoperative manometry of the biliary tract and measurement of amylase levels in choledochal cysts were performed in seven patients, aged 14 months to 5 years, with choledochal cysts, in an investigation of the pathophysiology of the biliary tract. An abnormal choledochopancreatico ductal junction was observed in these seven patients by preoperative endoscopic retrograde cholangiopancreaticography (ERCP) or intraoperative cholangiograms. All six patients examined showed a high amylase level in the choledochal cyst (5,450 to 46,500 Somogyi Units). The intraoperative manometry of the biliary tract showed that a remarkable high pressure zone as was found in the area of sphincter of Oddi was not found in the area of abnormal choledochopancreatico ductal junction. The pressure recordings also demonstrated that the sphincter of Oddi pressure in the patient with choledochal cyst was increased by gastrin stimulation. On the contrary, no pressure reaction to gastrin or secretin was found in the area of abnormal choledochopancreatic ductal junction. From these results it seems that free reflux of pancreatic juice into the biliary system occurs, and the reflux stream depends upon the pressure gradient between pancreatic ductal pressure and common bile duct pressure because of the lack of a sphincter function at the choledochopancreatico ductal junction.

  20. Treatment of choledochal cyst in a pediatric population. A single institution experience of 15-years. Case series

    Science.gov (United States)

    Silva-Baez, Hector; Coello-Ramírez, Pedro; Ixtabalán-Escalante, Eddy Mizraím; Sotelo-Anaya, Eduardo; Gallo-Morales, Mariana; Cordero-Estrada, Eduardo; Sainz-Escarrega, Victor Hugo; Ploneda-Valencia, César Felipe

    2015-01-01

    Background Choledochal cyst (CC) is a rare congenital anomaly of the bile duct that approximately 75% of the patients are diagnosed in childhood. Without a standardized surgical procedure for the biliary reconstruction, we present our experience over the last 15 years and show the differences between the biliary reconstructions techniques in our population. Methods We did a retrospective hospital archive search for patients admitted to the pediatric surgery department with the diagnosis of a choledochal cyst from January 2000 to June 2015. Results We found 15 patients, of which, 1 was excluded because of missing data from the hospital record. Of the remaining 14, eight had hepaticojejunal (HY) anastomosis in Roux-en-Y, with a 25% rate of complications; six had hepatoduodenal (HD) anastomosis with a rate of complications of 16.6%. The average hospital length of stay in the group of HD vs. HY was 14 ± 1.6-days vs. 19 ± 8.2-days respectively. Discussion There are no standardized surgical reconstruction techniques of the biliary tract after the CC excision, there is literature that supports the biliary reconstruction with an HY and an HD without a distinct advantage over one or the other. Conclusion: In our series HD anastomosis represents a safe procedure with fewer complications than HY. PMID:26900456

  1. Embryonal rhabdomyosarcoma of the biliary tree mimicking a choledochal cyst

    Directory of Open Access Journals (Sweden)

    Nemade Bhushan

    2007-01-01

    Full Text Available Embryonal rhabdomyosarcoma (ERMS of biliary tree is a rare type of mesenchymal neoplasm diagnosed at surgery or by preoperative liver biopsy. We present a one year eight months old child who mimicked a choledochal cyst and was eventually treated with surgery, chemotherapy with IRS IV protocol and adjuvant postoperative radiotherapy to surgical bed with 6 MV photons to a dose of 5040cGy in 28 fractions.

  2. Choledochal cyst with large stone cast and por tal hyper tension

    Institute of Scientific and Technical Information of China (English)

    Shivendra Singh; Laxman Singh Kheria; Sunil Puri; Amrinder S Puri; Anil K Agarwal

    2009-01-01

    BACKGROUND: Choledochal cysts in adults are more commonly associated with complications such as cystolithiasis, recurrent cholangitis, portal hypertension and malignancy, than in the pediatric age group. METHOD: We report a case of adult choledochal cyst with long-term complication of large stone cast and portal hypertension due to secondary biliary cirrhosis. RESULTS: A 50-year-old patient presented with obstructive jaundice and hepatosplenomegaly. On investigation, she was diagnosed as having a choledochal cyst with large stone cast and portal hypertension. Single stage resection of the choledochal cyst with Roux-en-Y hepaticojejunostomy was done by meticulous dissection and ligation of collaterals. CONCLUSION: Single stage resection of a choledochal cyst is possible in spite of associated portal hypertension, if the portal vein is patent.

  3. Diagnosis and management of choledochal cyst: 20 years of single center experience.

    Science.gov (United States)

    Gadelhak, Nabil; Shehta, Ahmed; Hamed, Hosam

    2014-06-14

    We report the first case series from Africa and the Middle East on choledochal cyst, a disease which shows significant geographical distribution with high incidence in the Asian population. In this study, the epidemiological data of the patients are presented and analyzed. Attention was paid to diagnostic imaging and its accuracy in the diagnosis and classification of choledochal cyst. Most cases of choledochal cyst disease have type I and IV-A cysts according to the Todani classification system, which support the etiological theories of choledochal cyst, especially Babbitt's theory of the anomalous pancreaticobiliary duct junction, which are clearly stated. The difficulties and hazards of surgical management and methods used to avoid operative complications are clarified. Early and late postoperative complications are also included. This study should be followed by multicenter studies throughout Egypt to help assess the incidence of choledochal cysts in one of the largest populations in Africa and the Middle East.

  4. [Choledochal cyst in pregnancy and puerperium: report on two cases and review of literature].

    Science.gov (United States)

    Prochazka, R; Ojeda, M; Cedron, H; Vila, S; Piscoya, A; De los Rios, R; Pinto, J L; Huerta-mercado, J; Bussalleu, A

    2007-01-01

    A choledochal cyst is a cystic dilation of the intrahepatic or extrahepatic biliary tract. According to the most accepted theory, it is caused by an anomalous pancreatobiliary junction. The most important complications are cholangiocarcinoma, lithiasis, and pancreatitis. Current therapy is surgical resection. Only 20% to 30% of cases are diagnosed in adult life. Two cases of choledochal cysts are reported in female adult patients, one of them in late pregnancy and the other in puerperium. Diagnosis of choledochal cyst in pregnancy and puerperium is an uncommon event, entailing particular considerations regarding symptoms and treatment.

  5. Uncommon Mixed Type I and II Choledochal Cyst: An Indonesian Experience

    Directory of Open Access Journals (Sweden)

    Fransisca J. Siahaya

    2013-01-01

    Full Text Available Bile duct cyst is an uncommon disease worldwide; however, its incidence is remarkably high in Asian population, primarily in children. Nevertheless, the mixed type choledochal cysts are extremely rare especially in adults. A case report of a 20-year-old female with a history of upper abdominal pain that was diagnosed with cholecystitis with stone and who underwent laparoscopic cholecystectomy is discussed. Choledochal malformation was found intraoperatively. Magnetic resonance cholangiography (MRCP and USG after first surgery revealed extrahepatic fusiform dilatation of the CBD; therefore, provisional diagnosis of type I choledochal cyst was made. Complete resection of the cyst was performed, and a mixed type I and II choledochal cyst was found intraoperatively. Bile duct reconstruction was carried out with Roux-en-Y hepaticojejunostomy. The mixed type I and II choledochal cysts are rare in adults, and this is the third adult case that has been reported. The mixed type can be missed on radiology imaging, and diagnosing the anomaly is only possible after a combination of imaging and intraoperative findings. Mixed type choledochal cyst classification should not be added to the existing classification since it does not affect the current operative techniques.

  6. Uncommon Mixed Type I and II Choledochal Cyst: An Indonesian Experience.

    Science.gov (United States)

    Siahaya, Fransisca J; Lalisang, Toar J M; Jeo, Wifanto S; Simanjuntak, Arnold B H; Philippi, Benny

    2013-01-01

    Bile duct cyst is an uncommon disease worldwide; however, its incidence is remarkably high in Asian population, primarily in children. Nevertheless, the mixed type choledochal cysts are extremely rare especially in adults. A case report of a 20-year-old female with a history of upper abdominal pain that was diagnosed with cholecystitis with stone and who underwent laparoscopic cholecystectomy is discussed. Choledochal malformation was found intraoperatively. Magnetic resonance cholangiography (MRCP) and USG after first surgery revealed extrahepatic fusiform dilatation of the CBD; therefore, provisional diagnosis of type I choledochal cyst was made. Complete resection of the cyst was performed, and a mixed type I and II choledochal cyst was found intraoperatively. Bile duct reconstruction was carried out with Roux-en-Y hepaticojejunostomy. The mixed type I and II choledochal cysts are rare in adults, and this is the third adult case that has been reported. The mixed type can be missed on radiology imaging, and diagnosing the anomaly is only possible after a combination of imaging and intraoperative findings. Mixed type choledochal cyst classification should not be added to the existing classification since it does not affect the current operative techniques.

  7. Does hyperamylasemia in choledochal cyst indicate true pancreatitis? An experimental study.

    Science.gov (United States)

    Urushihara, N; Todani, T; Watanabe, Y; Uemura, S; Morotomi, Y; Wang, Z Q

    1995-06-01

    Patients with choledochal cyst often have repeated attacks of abdominal pain accompanied by hyperamylasemia, and they may be diagnosed as having acute pancreatitis. However, the attacks generally tend to subside in a short period by conservative treatment, and evidence of pancreatitis is rarely observed at the time of surgery. Choledochal cyst is commonly associated with pancreatobiliary maljunction, and high concentrations of pancreatic enzymes in bile are usually observed. When the bile duct pressure increases due to obstructive cholangitis, pancreatic enzymes in bile may regurgitate into the blood stream. Cholangiovenous reflux of amylase might cause hyperamylasemia. In order to investigate the mechanism of hyperamylasemia by cholangiovenous reflux, canine pancreatic juice or bile from a patient with choledochal cyst was injected into the obstructed common bile duct in dogs. The pancreatic enzymes in bile could readily enter into the blood stream at the pressure level of 15 mmHg or more in the bile duct. The peak amylase level in the thoracic lymph was observed to be more than 4 times higher than that in the blood serum, and the lymph flow during 30 minutes increased significantly from 8.1 to 20.4 ml at the bile duct pressure level of 20 mmHg. The reflux of amylase in bile into the blood stream via both the hepatic vein and thoracic duct might result in hyperamylasemia in the patients with choledochal cyst.

  8. [Choledochal cyst during pregnancy. Report of 3 cases and a literature review].

    Science.gov (United States)

    Martínez-Ordaz, José Luis; Morales-Camacho, Magdely Yazmin; Centellas-Hinojosa, Sócrates; Román-Ramírez, Eduardo; Romero-Hernández, Teodoro; de la Fuente-Lira, Mauricio

    2016-01-01

    Choledochal cysts are rare. They usually present during childhood in women, but it can also be seen during pregnancy. Clinical signs and symptoms are obscured during this time, thus it can complicate the diagnosis and represent a life threatening complication for both the mother and the child. To communicate the case of 3 pregnant patients with choledochal cyst. Three pregnant women in which choledochal cyst were diagnosed. Two developed signs of cholangitis. The first one underwent a hepatic-jejunostomy, but had an abortion and died on postoperative day 10. The second one had a preterm caesarean operation due to foetal distress and underwent a hepatic-jejunostomy 4 weeks later; during her recovery she had a gastric perforation and died of septic complications. The third one did not develop cholangitis or jaundice. She had an uneventful pregnancy and had a hepatic-jejunostomy 4 weeks later with good results. Management of choledochal cysts during pregnancy is related to the presence of cholangitis. When they do not respond to medical treatment, decompression of the biliary tree is indicated. Definitive treatment should be performed after resolution of the pregnancy. Copyright © 2015 Academia Mexicana de Cirugía A.C. Published by Masson Doyma México S.A. All rights reserved.

  9. Cisto de colédoco: relato de caso e revisão da literatura Choledochal cyst: case report and literature review

    Directory of Open Access Journals (Sweden)

    JF Gandolfi

    2007-06-01

    Full Text Available INTRODUÇÃO: Cistos de colédoco são dilatações congênitas dos ductos biliares, tanto intra quanto extra-hepáticas. É incomum com incidência estimada em 1:100.000 até 1:150.000 nascidos vivos nos países ocidentais. RELATO DO CASO: Mulher de 36 anos com história de icterícia, colúria e massa palpável em hemiabdome direito há 15 dias, negava acolia fecal, febre e emagrecimento. Ao exame físico apresentava ictérica e presença de uma massa palpável e indolor em hipocôndrio direito com cerca de 25 cm de diâmetro, sem outras alterações. Os exames laboratoriais evidenciaram aumento de enzimas canaliculares, hepatocíticas e bilirrubinas. CA 19-9, alfa-feto proteína e CEA foram normais. Exames de imagem do abdome mostraram massa de conteúdo cístico em topografia de colédoco e cabeça de pâncreas. Operada por laparotomia, foi evidenciado cisto de colédoco, classificação de Todani tipo I. A vesícula biliar foi ressecada juntamente com a porção distal do cisto e anastomose biliodigestiva em Y-de-Roux foi realizada entre a alça de jejuno e porção proximal do cisto. A evolução pós-operatória foi tumultuada com sangramento da anastomose e necessidade de reoperações para conter sangramento e complicações conseqüentes. CONCLUSÃO: Os cistos de colédoco são entidades raras e têm múltiplos aspectos em sua forma. O diagnóstico é facilmente feito pelos métodos de imagem correntes, contudo seu tratamento é difícil, por vezes de grande magnitude, e deve ser individualizado.BACKGROUND: Choledochal cysts are congenital dilations of biliary ducts, being either intra or extra-hepatic. It is uncommon, having an estimated incidence of 1:100.000 to 1:150.000 born alive in western countries. CASE REPORT: Thirty six-year-old female was attended with a history of jaundice, coluria and palpable mass in the right hemiabdomen for 15 days, denying fecal acholia, having fever and weight loss. During physical examination the

  10. [Non-operative management of splenic trauma].

    Science.gov (United States)

    Moog, R; Mefat, L; Kauffmann, I; Becmeur, F

    2005-02-01

    Non-operative management of splenic trauma is one of the most notable advances in paediatric surgery. It should be systematically proposed except for cases of hemodynamic instability. Abdominal CT scan without and with contrast injection is essential with initial optimal management. Stay in paediatric surgical intensive care unit with monitoring can prevent rare but serious complications. The time of hospitalisation stay lies between two and three weeks and will be followed by three months without contact activity. The advantages of this treatment are obvious safeguarding of splenic function and absence of postoperative complications. Consequently only one of the 88 children admitted these ten last past years for splenic trauma in our unity was operated.

  11. Surgical treatment of type IV-A choledochal cyst in a single institution: children vs. adults.

    Science.gov (United States)

    Zheng, Xiuhai; Gu, Wanqing; Xia, Hongtian; Huang, Xiaoqiang; Liang, Bin; Yang, Tao; Yang, Shizhong; Zeng, Jianping; Dong, Jiahong

    2013-10-01

    The treatment of type IV-A choledochal cyst is particularly difficult and remains a challenge because of the rareness and the various presentations of the disease involving not only the extrahepatic but also the intrahepatic biliary tract. The purpose of this study is to analyze our clinical experience for surgical treatment of type IV-A choledochal cyst, and compare between children and adults. During a 10-year period of time (2000-2010), clinical data of 81 consecutive patients with type IV-A choledochal cyst were retrospectively analyzed. We divided these patients into two groups, the child group (age ≤ 18 years) and the adult group (age >18 years). According to whether the patient received additional liver resection, patients were divided into a extrahepatic cystectomy (EHC) group and an additional liver resection (LR) group. The long-term outcomes after surgery were evaluated in two groups. Of all 81 patients, there were 17 children and 64 adults; 16 children and 35 adults belonged to EHC group, one child and 29 adults belonged to LR group. The morbidity of biliary stricture and/or lithiasis in the adults was significantly higher than that in the children (p = 0.041 adults was significantly higher than that of children (p = 0.019 adult patients, the morbidity of biliary stricture and/or lithiasis and the reoperation rate in EHC group was significantly higher than that in LR group (p = 0.037 adults were found to have cholangiocarcinoma within a follow-up period, while no child was found to. However, for adult patients, no significant discrepancy was observed between EHC group and LR group (p = 0.366 > 0.05). The present study suggests that the children have better outcomes than adults for patients with type IV-A choledochal cyst after EHC, while LR brings better outcomes than EHC for adult patients. Copyright © 2013 Elsevier Inc. All rights reserved.

  12. Cosmetic selection of skin incision for resection of choledochal cyst in young female patients

    Science.gov (United States)

    Choi, Jong-Woo; Ha, Tae-Yong; Song, Gi-Won; Jung, Dong-Hwan

    2016-01-01

    Backgrounds/Aims Open surgery for choledochal cyst has a disadvantage of skin incision scar from operative wound, which can be a definite disadvantage especially in young female patients. This study focused on the cosmetic aspect of skin incision for resection of choledochal cyst in young female patients. Methods During a 2-year study period, 11 adult female patients aged less than 40 years underwent primary resection of choledochal cyst by a single surgeon. The cosmetic effect of two types of skin incision was evaluated. Results The patients underwent mini-laparotomy through either a right subcostal incision (n=8) or an upper midline incision (n=3). The mean length of skin incision was 10 cm for right subcostal incisions and 9 cm for upper midline incisions. It took approximately 1 hour to repair the operative wound meticulously in both groups. At the 6 month to 1 year follow-up, a slight bulge on the skin scar was observed in 3 (37.5%) patients of the right subcostal incision group and 1 (33.3%) patient of the upper midline incision group. Conclusions The results of this preliminary study support the claim that cosmetic effect of the upper midline incision for CCD surgery appears to be non-inferior to that of the right subcostal incision if the incision is placed accurately and repaired very meticulously. PMID:27621750

  13. Heterogenous wall thickening of gall blabber: xanthogranulomatous cholecystitis or carcinoma, with type 3 choledochal cyst.

    Science.gov (United States)

    Darji, Parth; Thakkar, Gurudatt; Prajapati, Sanjay

    2012-06-21

    Xanthogranulomatous cholecystitis is an unusual inflammatory disease of the gallbladder characterised by severe proliferative fibrosis and the accumulation of lipid-laden macrophages in areas of destructive inflammation. Its macroscopic appearance may occasionally be confused with gallbladder carcinoma. The authors present a case of xanthogranulomatous cholecystitis with type 3 choledochal cyst in a 20-year-old man who was referred to our hospital with a 1-week history of abdominal pain and fever. He underwent endoscopic sphincterotomy and then open cholecystectomy. A histological diagnosis of xanthogranulomatous cholecystitis was made.

  14. Extrahepatic biliary atresia with choledochal cyst: Prenatal MRI predicted and post natally confirmed: A case report

    Directory of Open Access Journals (Sweden)

    Madhavi Nori

    2013-01-01

    Full Text Available Extrahepatic biliary atresia (EHBA is an uncommon cause of neonatal jaundice. Antenatal Magnetic Resonance Imaging (MRI diagnosis of EHBA has not been published to the best of our knowledge till date. EHBA with cystic component is likely to be mistaken for choledochal cyst. A case that was antenatally predicted and postnatally confirmed by surgery and histopathology is being reported. All imaging signs are analyzed herewith. Imaging helps in the prediction of EHBA and also helps in early postnatal surgical referral which in turn improves the results of Kasai′s portoenterostomy.

  15. Congenital Hypothyroidism

    Science.gov (United States)

    ... Body in Balance › Congenital Hypothyroidism Fact Sheet Congenital Hypothyroidism March, 2012 Download PDFs English Espanol Editors Rosalind S. ... MD Susan R. Rose, MD What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  16. Modified method of T-tube placement in cases of ruptured choledochal cyst having complete loss of anterior wall

    Directory of Open Access Journals (Sweden)

    Ahmed Intezar

    2011-01-01

    Full Text Available Survival rates for infants and children who have choledochal cyst with or without spontaneous rupture have improved dramatically in the past decades. Despite excellent long-term survival for patients with choledochal cyst who undergo elective surgery, many significant complications can occur in the patients being operated in emergency for rupture of the cyst. Spontaneous rupture of the cyst is one such problem resulting in considerable morbidity and mortality in these patients. Majority of surgeons manage these cases with T-tube external drainage. The conventional methods of T-tube placement for long period has remained simple as described in choledochotomies where there is no deficit of the walls of common bile duct (CBD. The present technique has been designed specially for the cases of ruptured choledochal cyst, where the wall of the CBD gets necrosed leaving behind a long gap between the two ends. In these cases, placement of T-tube with conventional method is not possible because there is no wall to suture together, and make the CBD water tight again to prevent leakage of bile. We found only two patients of spontaneous rupture of choledochal cyst with a long gap between two ends of CBD because of necrosed anterior wall. In both of these patients, it was not possible to put T-tube with traditional method and one would have to opt for primary definitive repair despite poor general condition of patients.

  17. Non-operative management of adult blunt splenic injuries

    Institute of Scientific and Technical Information of China (English)

    YANG Jun; GAO Jin-mou; Jean-Claude Baste

    2006-01-01

    Objective: To investigate the indication of nonoperative management of adult blunt splenic injuries.Methods: A retrospective review was performed on all adult patients (age > 15 years ) with blunt splenic injuries admitted to the department of vascular surgery of Pellegrin hospital in France from 1999 to 2003. We managed splenic injuries non-operatively in all appropriate patients without regard to age.Results: During the 4 years, 54 consecutive adult patients with blunt splenic injuries were treated in the hospital. A total of 27 patients with stable hemodynamic status were treated non-operatively at first, of which 2 patients were failed to non-operative treatment. The successful percentage of non-operative management was 92.6 %. In the 54 patients, 7 of 8 patients older than 55 years were treated with non-operative management. Two cases developing postoperatively subphrenic infection were healed by proper treatment. In the series, there was no death.Conclusions: Non-operative management of low-grade splenic injuries can be accomplished with an acceptable low-failure rate. If the clinical and laboratory parameters difficult for surgeons to make decisions, they can depend on Resciniti' s CT (computed tomography)scoring system to select a subset of adults with splenic trauma who are excellent candidates for a trial of nonoperative management. The patients older than 55 years are not absolutely inhibited to receive non-operative management.

  18. Sphincter of Oddi Dysfunction and the Formation of Adult Choledochal Cyst Following Cholecystectomy: A Retrospective Cohort Study.

    Science.gov (United States)

    Xia, Hong-Tian; Wang, Jing; Yang, Tao; Liang, Bin; Zeng, Jian-Ping; Dong, Jia-Hong

    2015-11-01

    To determine the causes underlying the formation of adult choledochal cyst.Anomalous pancreaticobiliary junction is the most widely accepted theory regarding the etiology of choledochal cyst. However, choledochal cysts have been found in patients in the absence of this anomaly. Because the number of adult patients with choledochal cyst is increasing, it is important to address this controversy.Bile amylase levels in the cysts of 27 patients (8 males and 19 females) who had undergone cholecystectomy were retrospectively evaluated.The average age of the 27 patients was 45.8 ± 10.1 years and the majority (85.2%) were diagnosed with Todani type I cysts. None of the patients had dilatation of the common bile duct prior to surgery. There were 6 (22.2%) patients with anomalous pancreaticobiliary junction. However, amylase levels did not significantly differ between patients with and without this anomaly (P = 0.251). According to bile amylase levels, pancreatobiliary reflux was present in 21 (77.8%) patients. The mean amylase level significantly differed in patients with pancreatobiliary reflux (23,462 ± 11,510 IU/L) and those without (235 ± 103 IU/L) (P < 0.001). In patients with pancreatobiliary reflux, only 4 patients had anomalous pancreaticobiliary junction. That is, the majority of patients (17/21, 81%) having pancreatobiliary reflux did not have an anomalous junction of the pancreatic and biliary ducts.Since the only explanation for pancreatobiliary reflux in patients with a normal pancreaticobiliary junction is sphincter of Oddi dysfunction, we proposed that the formation of adult choledochal cyst is mainly due to sphincter of Oddi dysfunction.

  19. The clinical significance of gall-bladder non-visualization in cholescintigraphy of patients with choledochal cysts

    Energy Technology Data Exchange (ETDEWEB)

    Kao Panfu [Department of Nuclear Medicine, Chang Gung Memorial Hospital, Taipei (Taiwan, Province of China); Huang Miauju [Department of Nuclear Medicine, Chang Gung Memorial Hospital, Taipei (Taiwan, Province of China); Tzen Kaiyuan [Department of Nuclear Medicine, Chang Gung Memorial Hospital, Taipei (Taiwan, Province of China); You Dongling [Department of Nuclear Medicine, Chang Gung Memorial Hospital, Taipei (Taiwan, Province of China); Liaw Yunfan [Liver Unit, Chang Gung Memorial Hospital, Taipei (Taiwan, Province of China)

    1996-11-01

    Intravenous radionuclide cholescintigraphy (IVRC) provides a very specific picture for choledochal cysts. However, the clinical significance of the non-visualization of the gall-bladder (GB) activity in these cases is unclear. In this study, we reviewed 27 patients with choledochal cysts who underwent IVRC within 7 days prior to operation and correlated the GB findings on IVRC with the histopathological results. In 18 of the 27 patients (66.7%), there was non-visualization of the GB at 4 h post injection. Among these, two had histopathological features of acute cholecystitis (AC), 11 had chronic cholecystitis (CC), and five had normal GBs. In the other nine patients with visualization of the GB, there were five cases of CC and four normal GBs. If we apply the finding of non-visualization of the GB at 4 h post injection as the criterion for the diagnosis of AC, the diagnostic accuracy was only 40.7% (11/27). We concluded that: (1) GB disease (AC and CC) was common (66.7%: 7.4% and 59.3% respectively) in choledochal cyst patients. (2) Non-visualization of the GB on IVRC did not necessarily indicate AC in choledochal cyst cases, and the diagnostic accuracy was low. (3) GB disease is not the only cause of GB non-visualization on IVRC. A huge choledochal cyst causing a mass or reservoir effect may be a cause of GB compression and result in non-visualization of the GB. (orig.). With 3 figs., 3 tabs.

  20. Role of non-operative management in pediatric appendicitis.

    Science.gov (United States)

    Gonzalez, Dani O; Deans, Katherine J; Minneci, Peter C

    2016-08-01

    Appendectomy is currently considered the standard of care for children with acute appendicitis. Although commonly performed and considered a safe procedure, appendectomy is not without complications. Non-operative management has a role in the treatment of both uncomplicated and complicated appendicitis. In uncomplicated appendicitis, initial non-operative management appears to be safe, with an approximate 1-year success rate of 75%. Compared to surgery, non-operative management is associated with less disability and lower costs, with no increase in the rate of complicated appendicitis. In patients with complicated appendicitis, initial non-operative management with interval appendectomy has been shown to be safe with reported success rates between 66% and 95%. Several studies suggest that initial non-operative management with interval appendectomy may be beneficial in patients with perforated appendicitis with a well-formed abscess or inflammatory mass. Recent data suggest that interval appendectomy may not be necessary after initial non-operative management of complicated appendicitis. Copyright © 2016 Elsevier Inc. All rights reserved.

  1. Management of choledochal cyst Tratamento do cisto de colédoco

    Directory of Open Access Journals (Sweden)

    Orlando Jorge Martins Torres

    2007-09-01

    Full Text Available BACKGROUND: Choledochal cysts are rare diseases in adults. The risk of malignant transformation is well documented to be age-related and early complete cyst excision is currently advocated. Type IVa cyst management is more controversial. Extensive intrahepatic involvement of the biliary system may preclude complete excision. AIM: The aim of this study was to present a case of type IVa choledochal cyst in a young female patient. CASE REPORT: An 18-year-old female, complaining of right upper quadrant pain, nausea, vomiting, fever, and jaundice was admitted. The diagnosis of type IVa choledochal cyst was made by computerized tomography. The patient was underwent cholecystectomy, excision of the anterior wall of the cyst, and Roux-en-Y hepaticojejunostomy. No postoperative complication was noted and the patient was discharged five days after operation. CONCLUSION: Total cyst excision is the ideal treatment of choledochal cysts in adults. However, in IVa type, due to the extensive intrahepatic involvement of the biliary system, the anatomy of the cyst, and the surgeon's judgment will determine the surgical approach taken for the patient.RACIONAL: A doença de cistos de colédoco em adultos é rara. O risco de transformação maligna é bem documentado, sendo relacionado a idade, além da completa excisão do cisto ser aconselhada. O manuseio e gestão do cisto tipo IVa gera maior controvérsia. O envolvimento intra-hepático extensivo do sistema biliar pode prevenir a sua completa excisão. OBJETIVOS: Relatar o caso de um cisto de colédoco do tipo IVa em paciente feminina. RELATO DE CASO: Paciente feminina, 18 anos de idade, foi admitida com queixa de dor no quadrante superior direito, náusea, vômitos, febre e icterícia. O diagnóstico de cisto de colédoco do tipo IVa foi realizado através de tomografia computadorizada. A paciente foi submetida à colecistectomia, excisão da parede anterior do cisto e hepatojejunostomia em Y-de-Roux. Nenhuma

  2. Congenital Hypothyroidism

    Science.gov (United States)

    ... Disease Featured Resource Find an Endocrinologist Search Congenital Hypothyroidism March 2012 Download PDFs English Espanol Editors Rosalind S. ... Pediatric Endocrine Society MedlinePlus (NIH) What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  3. Imaging findings in congenital hepatic fibrosis

    Energy Technology Data Exchange (ETDEWEB)

    Akhan, Okan [Department of Radiology, Hacettepe University, School of Medicine, 06100 Ankara (Turkey)]. E-mail: akhano@tr.net; Karaosmanoglu, Ali Devrim [Department of Radiology, Hacettepe University, School of Medicine, 06100 Ankara (Turkey); Ergen, Bilge [Department of Radiology, Hacettepe University, School of Medicine, 06100 Ankara (Turkey)

    2007-01-15

    Congenital hepatic fibrosis (CHF) is a rare congenital multisystemic disorder, mostly inherited in autosomal recessive fashion, primarily affecting renal and hepatobiliary systems. Main underlying process of the disease is the malformation of the ductal plate, the embryological precursor of the biliary system, and secondary biliary strictures and periportal fibrosis ultimately leading to portal hypertension. The natural course of the disease is highly variable ranging from minimally symptomatic disease to true cirrhosis of the liver. However, in most patients the most common manifestations of the diseases that are related to portal hypertension, particularly splenomegaly and bleeding varices. Many other disease processes may co-exist with the disease including Caroli's disease, choledochal cysts and autosomal recessive polycystic kidney disease (ARPKD) reflecting the mulstisystemic nature of the disease. The associating biliary ductal disease led the authors to think that all these entities are a continuum and different reflections of the same underlying pathophysiological process. Although, conventional method of diagnosis of CHF is the liver biopsy the advent of imaging technologies and modalities, today, may permit the correct diagnosis in a non-invasive manner. Characteristic imaging features are generally present and recognition of these findings may obviate liver biopsy while preserving the diagnostic accuracy. In this article, it is aimed to increase the awareness of the practising radiologists to the imaging findings of this uncommon clinical disorder and trail the blaze for future articles relating to this issue.

  4. Spontaneous rupture of a type ⅣA choledochal cyst in a young adult during radiological imaging

    Institute of Scientific and Technical Information of China (English)

    Ekaterini Stipsanelli; Pipitsa Valsamaki; Spyridon Tsiouris; Angelika Arka; Georgios Papathanasiou; Nikolaos Ptohis; Stephanos Lahanis; Vassilios Papantoniou; Cherry Zerva

    2006-01-01

    A case of a 24-year-old male with jaundice and epigastric pain is reported. The patient underwent a thorough clinical, laboratory, and imaging investigation.Computerized tomography revealed a 9 cm×10 cm choledochal cyst. Magnetic resonance imaging and magnetic cholangiopancreatography were performed,during which he developed an "acute abdomen", with radiological evidence of biliary peritoneal leak. Urgent surgery revealed rupture of the distended malformed common bile duct. A peritoneal drain was instilled and a more definitive surgical procedure was accordingly scheduled. Hepatobiliary scintigraphy following surgery verified these findings, as well as confirmed the adequacy of the urgent surgery. A combination of radiological and nuclear medicine techniques substantially contributes to the diagnosis of choledochal cyst rupture and the adequacy of surgical intervention.

  5. Liver Trauma: Operative and Non-operative Management

    Directory of Open Access Journals (Sweden)

    Moosa Zargar

    2010-04-01

    Full Text Available Background: The liver is the second most commonly injured organ in abdominal trauma, but liver damage is the most common cause of death after abdominal injury. Although urgent surgery continues to be the standard for hemodynamically compromised patients with hepatic trauma, there has been a paradigm shift in the management of patients who have stable hemodynamic. A marked change toward a more conservative approach in the treatment of abdominal trauma has been noted during the last decades. Modern treatment of liver trauma is increasingly non-operative.Purpose: To find the epidemiology, etiologies and managements of liver trauma in a population based study in Iran.Material and Method: A study including 16,287 trauma patients referred to the main hospitals of seven cities with different geographic patterns was done in Iran. Eighty-four patients with hepatic trauma during the 1-year period ending March 2000 included in this Cross-Sectional study. We determined the incidence, etiology and management of the patients suffering liver injury. Analysis was done using SPSS 18. Statistical significance was set at PResults: Out of 16287 trauma patients 84 (0.5% had hepatic trauma with male predominance 68(81%. The most type of trauma was blunt and the main cause was motor vehicle crashes. Thirty patients (35.7% managed non-operatively. There was no significant difference in hospital stay between patients operated and managed non-operatively. There was no mortality in the patients managed non-surgically.Conclusion: In this study hepatic trauma was in 3.7% of abdominal trauma patients. This study concluded non-operative management of hepatic injuries is associated with a low overall morbidity and does not result in increases in length of stay. Non-operative management is a safe approach for the patients of liver trauma with stable hemodynamic.

  6. daVinic机器人腹腔镜治疗小儿先天性胆总管囊肿%da Vinci Robotic System for choledochal cysts in children

    Institute of Scientific and Technical Information of China (English)

    张茜; 曹国庆; 汤绍涛; 王勇; 雷海燕; 李帅; 王新星; 李康

    2016-01-01

    目的:总结 da Vinci 机器人腹腔镜治疗小儿先天性胆总管囊肿的近期疗效和经验。方法2015—2016年我们实施3例 da Vinci 机器人腹腔镜先天性胆总管囊肿根治术。患儿年龄分别为8个月、8岁和4岁。3例均为Ⅰa 型囊肿,其中1例为巨大囊肿。3例均实施机器人囊肿完整切除+肝总管空肠 Roux-en-Y 吻合术,于腹腔外完成 Roux 空肠端侧吻合。结果机器人操作时间分别为304 min、226 min 和245 min。术后开始进食时间为3 d、3 d 和4 d。术后住院时间分别为7 d、9 d 和10 d。随访时间分别为10个月、8个月和3个月,无术中、术后并发症。结论da Vinci 机器人治疗Ⅰa 型先天性胆总管囊肿是安全、可行的。三维显像系统和灵活的机器手更加有利于囊肿切除和胆肠重建。%Objetive To evaluate the early outcomes and present our experience of using da Vinci robot assistance to treat choledochal cysts.Methods From 2015 to 2016,3 children diagnosed with congenital cho-ledochal cyst and treated with da Vinci robotic system were retrospectively reviewed.The Roux loop was fash-ioned extracorporeally.The age was 8 months,8 years and 4 years,respectively.All 3 had type 1c cysts,and 1 was very large.Results All 3 cases were treated successfully by robotic resection of the cyst and hepaticojeju-nostomy.The robotic console operating time was 304 minutes,226 minutes and 245 minutes,respectively.Feed-ing was established by 3 days,3days and 4 days,and patients were discharged after 7 days,9days and 10 days, respectively,with no intraoperative and postoperative complications during follow-up. Conclusions The tech-nique is safe and effective in children with type 1a cysts.The three -dimensional visualization and wristed in-strumentation greatly aids in the dissection of the cyst and in the biliary reconstruction.

  7. Amylase level in extrahepatic bile duct in adult patients with choledochal cyst plus anomalous pancreatico-biliary ductal union

    Institute of Scientific and Technical Information of China (English)

    In-Ho Jeong; Jin-Hong Kim; Jae-Ho Han; Wook-Hwan Kim; Yong-Sik Jung; Hong Kim; Bong-Wan Kim; Jung-Woon Kim; Jeong Hong; Hee-Jung Wang; Myung-Wook Kim; Byung-Moo Yoo

    2005-01-01

    AIM: To investigate the relationship between pancreatic amylase in bile duct and the clinico-pathological features in adult patients with choledochal cyst and anomalous pancreatico-biliary ductal union (APBDU).METHODS: From 39 patients who underwent surgery for choledochal cyst between March 1995 and March 2003,we selected 15 adult patients who had some symptoms and were radiologically diagnosed as APBDU, and their clinico-pathological features were subsequently evaluated retrospectively. However, we could not obtain biliary amylase in all the patients because of the surgeon's slip.Therefore, we measured the amylase level in gall bladder of 10 patients and in common bile duct of 11 patients.RESULTS: Levels of amylase in common bile duct and gall bladder ranged from 11 500 to 212 000 IU/L, and the younger the patients, the higher the biliary amylase level (r= -0.982, P<0.01). Pathologically, significant correlation was found between the size of choledochal cyst and the grade of inflammation (r= 0.798,P<0.01). And, significant correlation was found between the level of amylase in gall bladder and the grade of hyperplasia. On the other hand, there was no correlation to the age of symptomatic onset or inflammatory grade (r = 0.743, P<0.05). Level of lipase was elevated from 6 000 to 159 000 IU/L in bile duct and from 14 400 to 117 000 IU/L in the gall bladder;however, there was no significant correlation with age or clinico-pathological features.CONCLUSION: The results support the notion that amylase has a particular role in the onset of symptoms, and suggest that a large amount of biliary amylase induces early onset of symptom, thereby making early diagnosis possible.

  8. [Congenital thrombophilia].

    Science.gov (United States)

    Kojima, Tetsuhito

    2016-03-01

    Congenital thrombophilia is a thrombotic diathesis caused by a variety of genetic abnormalities in blood coagulation factors or their inhibitory factors associated with physiological thrombus formation. Patients with congenital thrombophilia often present with unusual clinical episodes of venous thrombosis (occasionally combined with pulmonary embolism, known as venous thromboembolism) at a young age and recurrence in atypical vessels, such as the mesenteric vein and superior sagittal sinus, often with a family history of this condition. Studies in Japan as well as in western countries have shown congenital thrombophilia to be caused by a wide variety of genetic abnormalities in natural anticoagulant proteins, such as antithrombin, protein C, and protein S. However, there may still be many unknown causes of hereditary thrombosis. We recently reported a case of hereditary thrombosis induced by a novel mechanism of antithrombin resistance, that is, congenital thrombophilia caused by a gain-of-function mutation in the gene encoding the coagulation factor prothrombin.

  9. Congenital Myopathy

    Science.gov (United States)

    ... evaluate the electrical activity of the muscle, a muscle biopsy, and genetic testing. There are currently seven distinct types of congenital myopathy, with some variation in symptoms, complications, treatment options, and outlook. Nemaline ...

  10. Congenital syphilis

    Science.gov (United States)

    Congenital syphilis is caused by the bacteria Treponema pallidum , which is passed from mother to child during fetal development or at birth. Nearly half of all children infected with syphilis while they ...

  11. "The choledocho-pancreatic long common channel disorders" in relation to the etiology of congenital biliary dilatation and other biliary tract disease.

    Science.gov (United States)

    Miyano, T; Suruga, K; Suda, K

    1981-10-01

    The amylase level of bile and various cholangiograms was studied in 36 cases of congenital biliary dilatation. (C.B.D.) The amylase level above 10000 U/L was considered to suggest the existence of choledocho-pancreatic long common channel formation. Radiologically, the dilatation of intrahepatic bile duct was seen in 9 out of 19 (47%) Type I cases and in all (100%) Type II cases. The cystic dilatation of intrahepatic bile duct was seen in all Type I cases which have cystic choledochal dilatation. On the other hand, fusiform dilatation was seen in all Type II cases with fusiform choledochal dilatation. End to side Choledocho-pancreatic anastomosis was performed to produce an experimental model of human choledocho-pancreatic long common channel disorders, thus leading to the dilatation of the common bile duct as well as the reflux of pancreatic juice into the bile duct. The reflux of Pancreatic juice and congenital stricture due to the choledocho-pancreatic long common channel formation were considered to be the important causative factors in the etiology of C.B.D.. Furthermore, pathology of the choledocho-pancreatic long common channel disorders was found to be important in relation to the etiology of both C.B.D. and other lesions of the biliary tract and pancreas.

  12. [Congenital epulis].

    Science.gov (United States)

    Braga-Tavares, H; Santos, H; M-Pinto, I; Ramos, M; de Sousa, P

    2009-01-01

    Congenital epulis or gingival granular cell tumor is an uncommon benign tumor, usually diagnosed at birth as a pediculated maxilar gingival mass. Although some cases of spontaneous regression have been described, most of the lesions are surgically removed with excelent prognosis and cosmetic final result. The authors describe a case report as well as a short revision on this pathology.

  13. Congenital amusias.

    Science.gov (United States)

    Tillmann, B; Albouy, P; Caclin, A

    2015-01-01

    In contrast to the sophisticated music processing reported in the general population, individuals with congenital amusia show deficits in music perception and production. Congenital amusia occurs without brain damage, sensory or cognitive deficits, and has been suggested as a lifelong deficit with genetic origin. Even though recognized for a long time, this disorder has been systematically studied only relatively recently for its behavioral and neural correlates. The currently most investigated hypothesis about the underlying deficits concerns the pitch dimension, notably with impaired pitch discrimination and memory. Anatomic and functional investigations of pitch processing revealed that the amusic brain presents abnormalities in the auditory and inferior frontal cortices, associated with decreased connectivity between these structures. The deficit also impairs processing of pitch in speech material and processing of the time dimension in music for some of the amusic individuals, but does not seem to affect spatial processing. Some studies suggest at least partial dissociation in the disorder between perception and production. Recent studies revealed spared implicit pitch perception in congenital amusia, supporting the power of implicit cognition in the music domain. Current challenges consist in defining different subtypes of congenital amusia as well as developing rehabilitation programs for this "musical handicap."

  14. Non-operative outcomes in Chiari I malformation patients.

    Science.gov (United States)

    Killeen, Amy; Roguski, Marie; Chavez, Alexis; Heilman, Carl; Hwang, Steven

    2015-01-01

    While postoperative outcomes of Chiari I malformation patients have been well-reported, there is a paucity of literature concerning non-operative management in these patients. We retrospectively identified patients with Chiari I malformation who were not recommended for surgery based on lack of clinical objective findings or inconsistent cough headaches and conducted patient follow-up with a prospective telephone survey. Of the 68 patients (mean age at diagnosis 30.1 ± 17.4 years), 72% were female and 31% were pediatric patients (age at diagnosis ⩽ 18 years). Average follow up was 4.9 ± 2.9 years. Typical presenting symptoms included cough headache, non-specific headache, nausea, ataxia, dysphagia and paresthesias. Overall, 40% of patients who had cough headaches and 61.5% of patients with non-specific headaches reported improvement. The presence of subjective sensory symptoms was significantly associated with less likelihood of cough headache improvement while the presence of a cough headache was also associated with a lower likelihood of improvement in all non-cough symptoms. The pediatric subgroup had a greater rate of improvement with all cases of nausea/emesis and paresthesias improved or resolved at follow-up. Overall 67% of pediatric patients had improved cough headache and 71% had improvement of migraines/diffuse headaches. We found that many symptoms of Chiari I patients from our conservatively managed cohort either improved or remained unchanged over time. However, the presence of cough headaches was a significant negative predictor of concomitant symptom improvement. This further validates the view that patients with cough headaches should be considered for surgical intervention and provides useful information to counsel patients.

  15. The role of the accessory pancreatic duct of Santorini in pancreatic drainage in children (with emphasis on choledochal cyst patients)

    Energy Technology Data Exchange (ETDEWEB)

    Perisic, V.N.; Mihailovic, T.; Milovanovic, D. (Mother and Child Health Inst., Novi Beograd (Yugoslavia)); Tomomasa, T.; Kuroume, T. (Gunma Univ., Maebashi (Japan). Dept. of Pediatrics)

    1991-05-01

    Pancreatic drainage patterns have been studied by endoscopic retrograde cholangiopancreatography (ERCP) in four children with choledochal cyst (CC). The first two had mild or chemical pancreatitis; the third had a history of recurrent cholangitis and was diagnosed as chronic pancreatitis. The fourth manifested with severe, acute pancreatitis. All children were found to have an impaired flow through the papilla of Vater. In the first three cases, the duct of Santorini (DS) seemed to play an important role in the pancreatic drainage. In the fourth case, however, the duct was found to be absent. ERCP findings in additional eleven children without CC also were reviewed, and in this group the DS did not seem to play any significant role in pancreatic drainage. These results indicate that in children with common bile duct (CBD) anomalies, the DS may relieve the obstruction and ameliorate the pancreatitis. (orig.).

  16. [Congenital hydrocephalus].

    Science.gov (United States)

    Malagón-Valdez, J

    2006-04-10

    Congenital hydrocephalus or ventriculomegaly is a disorder that now can be diagnosed in uterus with ultrasonography, this gives the chance of being able to give a treatment the earliest as possible. The clinical manifestations are reviewed, the diagnosis, the frequent treatment and causes of congenital hydrocephalus, being the first agenesis of the Sylvius' aqueduct, followed by Arnold-Chiari's malformations with mielomeningocele. In most of the cases the peritoneal-ventricle shunt is the best surgery treatment and now, the treatment with ventriculostomy of third ventricle by endoscopy has fewer complications apparently and in several cases it is the definitive treatment. The evolution of the diagnosis with the support of specific therapies is effective and the early treatment is good, of course taking into account the etiology.

  17. [Congenital aniridia].

    Science.gov (United States)

    Chiruţa, Daria; Stan, Cristina

    2014-01-01

    Aniridia is a rare congenital, hereditary, bilateral disease which is associated with various systemic and ocular defects. We present the case of a 61 year old patient who was admitted in the hospital of ophthalmology Cluj Napoca, for the symptoms caused by the ocular defects associated with aniridia. In this case, aniridia is autosomal dominant transmitted with incomplete penetrance and it is not accompanied by any systemic defects. The disease also affects three of her sons and two nephews of the patient.

  18. Congenital Hydrocephalus.

    Science.gov (United States)

    Estey, Chelsie M

    2016-03-01

    There are several types of hydrocephalus, which are characterized based on the location of the cerebrospinal fluid (CSF) accumulation. Physical features of animals with congenital hydrocephalus may include a dome-shaped skull, persistent fontanelle, and bilateral ventrolateral strabismus. Medical therapy involves decreasing the production of CSF. The most common surgical treatment is placement of a ventriculoperitoneal shunt. Postoperative complications may include infection, blockage, drainage abnormalities, and mechanical failure.

  19. Congenital Thrombocytopenia

    Institute of Scientific and Technical Information of China (English)

    王兆钺

    2011-01-01

    @@ Platelets are essential for normal hemostasis.Platelets adhere to damaged blood vessels, and then aggregate and promote activation of coagulation factors, resulting to ceasing bleeding.Both quantitative and qualitative abnormalities of platelets can cause bleeding problems.Among them, immune thrombocytopenias are the most common conditions.However, congenital thrombocytopenias are often neglected because of their relative rarity and complex laboratory tests.That causes misdiagnosis and unnecessary and potentially harmful treatments for many patients.

  20. Congenital diplopodia

    Energy Technology Data Exchange (ETDEWEB)

    Brower, Jason S.; Wootton-Gorges, Sandra L.; Costouros, John G.; Boakes, Jennette; Greenspan, Adam [University of California, Davis, Department of Radiology, 4860 Y. Street, Suite 3100, CA 95817, Davis (United States)

    2003-11-01

    Diplopodia, or duplicated foot, is a rare congenital anomaly. It differs from polydactyly in that supernumerary metatarsal and tarsal bones are present as well as extra digits. Only a few cases of this anomaly have been reported in the literature to date. We present a newborn male without intrauterine teratogen exposure who was born with a duplicate foot of the left lower extremity and imperforate anus. (orig.)

  1. [Congenital ranula].

    Science.gov (United States)

    Marques, Maria Inês; Morais, Sofia; Coutinho, Sílvia; de Castro, Ochoa; Rei, Ana Isabel

    2010-01-01

    The authors describe a case of congenital ranula diagnosed by a routine prenatal ultrasonography at 21 weeks of gestation. The fetal kariotype was normal. Follow-up ultrasound scans revealed no changes in the size or the position of the cyst. Fetal growth was normal as was the amniotic fluid volume. Surgical treatment was performed 3 days after a normal vaginal delivery, with excellent results.

  2. Congenital syphilis

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sang Wook; Kim, Kyung Soo; Hur, Don [Chosun University College of Medicine, Kwangju (Korea, Republic of)

    1983-12-15

    In recent years, marked increase in incidence of congenital syphilis has occurred throughout the world due to changes in social norms and development of penicillin-resistant strains. Early diagnosis plays an important role in congenital syphilis as the clinical manifestations may simulate many other conditions in the paediatric age group. The authors analyzed 52 cases of congenital syphilis admitted to the department of paediatrics, Chosun University Hospital, clinically and radiologically. Among them, 18 cases were born in this hospital and 34 cases were admitted from OPD, during the period of 8 years from January, 1975 to December, 1982. The results obtained were as follows; 1. In 28 of 34 cases (82%), the first clinical manifestations were below the age of 3 months. 2. Among the 52 cases, a male predominance was observed with a male to female ratio of 2 : 1. 3. The serologic test (VDRL) of the 52 studied cases showed reactive response in 49 cases (94%), and that of syphilitic mothers except 6 cases, reactive in all studied cases. 4. The major manifestations of the 52 cases were bone tenderness (12%) and swelling of the joints (7%) in skeletal system, hepatosplenomegaly (79%) and skin lesions (73%) in extraskeletal one. 5. The radiological skeletal changes were detected in 45 of 52 cases (87%), and the commonest findings were detected in 45 of 52 cases (87%), and the commonest findings were metaphysitis (83%) and periostitis (81%). The most characteristic type of metaphysitis were transverse trophic line (74%) and zone of rarefaction (65%). 6. The commonest bones to be affected were growing metaphyses of the long bones, particulary about the wrist and the knee. The order of frequency were radius (80%), uina (80%), tibia (77%), femur (69%) and humerus (40%)

  3. Congenital hypoaldosteronism.

    Science.gov (United States)

    Sethupathi, Vanathi; Vijayakumar, M; Janakiraman, Lalitha; Nammalwar, B R

    2008-08-01

    Congenital hypoaldosteronism due to an isolated aldosterone biosynthesis defect is rare. We report a 4 month old female infant who presented with failure to thrive, persistent hyponatremia and hyperkalemia. Investigations revealed normal serum 17 hydroxy progesterone and cortisol. A decreased serum aldosterone and serum 18 hydroxy corticosterone levels with a low 18 hydroxy corticosterone: aldosterone ratio was suggestive of corticosterone methyl oxidase type I deficiency. She was started on fludrocortisone replacement therapy with a subsequent normalization of electrolytes. Further molecular analysis is needed to ascertain the precise nature of the mutation.

  4. Evaluation of the learning curve of laparoscopic choledochal cyst excision and Roux-en-Y hepaticojejunostomy in children: CUSUM analysis of a single surgeon's experience.

    Science.gov (United States)

    Wen, Zhe; Liang, Huiying; Liang, Jiankun; Liang, Qifeng; Xia, Huimin

    2017-02-01

    Laparoscopic cyst excision and Roux-en-Y hepaticojejunostomy is gaining popularity as a treatment for choledochal cyst (CDC) in children. However, the learning curve for this challenging laparoscopic procedure has not been addressed. The aim of this study is to determine the characteristics of the learning curve of this procedure. This may guide the training in institutions currently not using this technique. A prospectively collected database comprising all medical records of the first 104 consecutive patients undergoing laparoscopic CDC excision and Roux-en-Y hepaticojejunostomy performed by one surgeon was studied. Multifactorial linear/logistic regression analysis was performed to identify patient-, surgeon-, and procedure-related factors associated with operating times, rates of adverse event, and length of postoperative stay. Cumulative sum analysis demonstrated a learning curve for laparoscopic choledochal cyst excision of 37 cases. Comparing the early with the late experiences (37 vs. 67 cases), the surgeon-specific outcomes significantly improved in terms of operating times (352 vs. 240 min; P learning curve (CLC) (OR 0.68, 95 % CI 0.63-0.73) and adhesion score (ORmiddle 1.25, 95 % CI 1.08-1.45; ORhigh 1.40, 95 % CI 1.20-1.62; compared with the low score); significant predictors of perioperative adverse outcomes were CLC (OR 0.07, 95 % CI 0.02-0.34) and comorbidities prior to the surgery (OR 30.65, 95 % CI 1.71-549.63). The independent predictors of length of postoperative stay included CLC, preoperative comorbidities, and perioperative adverse events. CLC for laparoscopic choledochal cyst excision is 37 cases. After CLC, not only the operative time is reduced, the complications, adverse results, and the length of hospital stay all decreased significantly. The learning curve can be used as the basis for performance guiding the training.

  5. Functional outcome 5 years after non-operative treatment of type A spinal fractures

    NARCIS (Netherlands)

    Post, RB; Keizer, HJE; Leferink, VJM; van der Sluis, CK

    2006-01-01

    This study was conducted to study the functional outcome after non-operative treatment of type A thoracolumbar spinal fractures without neurological deficit. Functional outcome was determined following the International Classification of Functioning, Disability and Health, measuring restrictions in

  6. Congenital Heart Disease in Adults

    Science.gov (United States)

    ... and genetics may play a role. Why congenital heart disease resurfaces in adulthood Some adults may find that ... in following adults with congenital heart disease. Congenital heart disease and pregnancy Women with congenital heart disease who ...

  7. Congenital pachygyria

    Directory of Open Access Journals (Sweden)

    Jing-xia HU

    2016-02-01

    Full Text Available Objective To investigate the imaging and clinicopathological features of pachygyria limited in the right temporo-parieto-occipital lobe and the key points of its diagnosis and treatment, in order to improve the recognition of this disease.  Methods and Results A 2-year-old boy was admitted to hospital because of paroxysmal loss of consciousness and convulsion for 18 months with progressive aggravation. MRI showed malformations of cortical development in the right temporo-parieto-occipital lobe. Epileptic foci resection on the right temporo-parieto-occipital lobe was made. Histological examination after operation showed uneven thickening of gray matter, shrinking of white matter and disappearing cortical stratification, while a lot of dysmorphic neurons, balloon cells and scattered balloon cells in white matter appeared. Immunohistochemical staining revealed that dysmorphic neurons were positive for non-phosphorylated neurofilament protein SMI-32, microtubule-associated protein-2 (MAP-2 and vimentin (Vim or neurofilament protein (NF. Both dysmorphic neurons and balloon cells expressed phosphorylated ribosomal S6 protein (RPS6, while the former was stronger than the latter. Balloon cells were not positive for MAP-2 or Vim. No disturbance of consciousness or limb twitches occurred in this patient during one-year follow-up.  Conclusions Congenital pachygyria was cortical dysplasia caused by the early proliferation and migration disorder of brain, and should be distinguished with focal cortical dysplasia (FCD type Ⅱ b and tuberous sclerosis complex (TSC. Clinical history, imaging and histological features should be included in the diagnosis. DOI: 10.3969/j.issn.1672-6731.2016.02.005

  8. Congenital platelet function defects

    Science.gov (United States)

    ... storage pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital ... Congenital platelet function defects are bleeding disorders that ... function, even though there are normal platelet numbers. Most ...

  9. Congenital heart disease

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001114.htm Congenital heart disease To use the sharing features on this page, please enable JavaScript. Congenital heart disease (CHD) is a problem with the heart's structure ...

  10. Cholangio-venous reflux as a cause of recurrent hyperamylasemia in choledochal dilatation with anomalous pancreaticobiliary ductal union: an experimental study.

    Science.gov (United States)

    Ohkawa, H; Sawaguchi, S; Khalil, B; Ishikawa, A; Yamazaki, Y

    1985-02-01

    Cylindrical choledochal dilatation, associated with anomalous pancreaticobiliary ductal union, causes recurrent episodes of right hypochondrial pain, vomiting, and fever. The symptoms are very often accompanied by hyperamylasemia, which is generally considered to be due to acute pancreatitis. However, our clinical experience and experimental studies have led us to the conclusion that pancreatitis is not the sole cause of hyperamylasemia. In this paper we report our further investigations of the cause of the hyperamylasemia. In 22 mongrel adult dogs, intracholedochal infusion was performed under a continuous hydrostatic pressure of 20 cm H2O for 2 hours. Solutions of amylase from three different sources and a lipase were used in the range of concentrations found clinically in the bile within a cylindrical choledochal dilatation. In the 3 groups, hyperamylasemia was proven by quantitative estimation of serum amylase level and/or by the changes in specific amylase isozymes. Lipase was also shown to transfer into the blood stream. In an additional experiment on 5 dogs, only the extrahepatic biliary tree, including the gallbladder, was infused with a solution of amylase from Bacillus subtilis. This produced no increase in the serum amylase. Our experiments suggest that amylase passes from the hepatocholedochal system into the blood stream. This phenomenon has long been known as cholangiovenous reflux.

  11. Evolution of the treatment of splenic injuries: from surgery to non-operative management.

    Science.gov (United States)

    Petrone, Patrizio; Anduaga Peña, María Fernanda; Servide Staffolani, María José; Brathwaite, Collin; Axelrad, Alexander; Ceballos Esparragón, José

    2017-08-02

    The spleen is one of the most frequently injured organs in blunt abdominal trauma. In the past decades, the treatment of patients with blunt splenic injury has shifted from operative to non-operative management. The knowledge of physiology and immunology of the spleen have been the main reasons to develop techniques for splenic salvage. The advances in high-resolution imaging techniques, as well as less invasive procedures, including angiography and angioembolization, have allowed a higher rate of success in the non-operative management. Non-operative management has showed a decrease in overall mortality and morbidity. The aim of this article is to analyze the current management of splenic injury based on a literature review of the last 30 years, from we have identified 63,205 patients. This would enable the surgeons to provide the best care possible in every case. Copyright © 2017 AEC. Publicado por Elsevier España, S.L.U. All rights reserved.

  12. Cyst Excision for Infants with Congenital Choledochal Cyst%囊肿切除治疗婴儿先天性胆总管囊肿

    Institute of Scientific and Technical Information of China (English)

    冯杰雄; 胡廷泽; 刘文英; 郎诗民; 李福玉; 钟麟; 蒋小平

    2000-01-01

    目的:探讨囊肿切除、胆道重建治疗婴儿胆总管囊肿的疗效.方法:1984年6月~1999年6月共有15例婴儿先天性胆总管囊肿患儿在我科接受了囊肿切除、胆道重建手术治疗,并对这些患儿进行了随访,随访资料包括:症状、体征、B超.钡餐及肝功能检查.结果:随访资料完整者12例,除1例术后3个月死于肝功能衰竭外,其余11例成活的患儿生长发育均正常;2例未行套叠瓣的患儿偶有上腹疼痛,但腹痛可自行缓解,钡餐检查见钡剂返流;全组病例肝功均正常,未见胆道结石、消化道溃疡、食道下端静脉曲张.结论:囊肿切除、胆道重建治疗婴儿先天性胆总管囊肿可取得满意的疗效.

  13. Humeral shaft fractures: Retrospective results of non-operative and operative treatment of 186 patients

    NARCIS (Netherlands)

    K.C. Mahabier (Kiran); L.M.M. Vogels (Lucas); B.J. Punt (Bas); G.R. Roukema (Gert); P. Patka (Peter); E.M.M. van Lieshout (Esther)

    2013-01-01

    textabstractBackground: Humeral shaft fractures account for 1-3% of all fractures and 20% of the fractures involving the humerus. The aim of the current study was to compare the outcome after operative and non-operative treatment of humeral shaft fractures, by comparing the time to radiological unio

  14. Benefits of Either Operative or Non-Operative Treatment for Perilunate Dislocation and Fracture Dislocations

    Directory of Open Access Journals (Sweden)

    Michael Rivlin

    2014-03-01

    Full Text Available Dear Editor We read the article by Bagheri et al with great interest (1. We found the study interesting and comprehensive as four groups of patients, including operative and nonoperative in either pure dislocation or fracture dislocation, were compared in terms of Mayo wrist score, Grip strength, range of motion and radiographic parameters. It seems that the results were comparable to studies by Capo, Chou, Laporte, Malovic, Kremer, Forli and Lutz (Table 1 (2-8. In the studies listed above, all the patients were treated by operative fixation and none of them reported any experience with non-operative treatment (2-8. Their operative results are almost similar to Bagheri’s operative results in which they demonstrated better outcomes in terms of motion and Mayo score than the non-operative counterpart. In the current study by Bagheri et al, non-operative treatment is also discussed, which has little literature support so far (1. We wonder what the indications were leading the patient and the surgeon electing nonoperative treatment versus operative intervention. Since the outcomes of non-operative care were comparable to the operative outcomes, weighing the benefits of non surgical management may be an area of further investigation.The authors didn’t describe the operative intervention in detail making comparisons with outer studies difficult. Therefore, we note the need to compare different operative techniques in the literature to figure out which provide the most optimal outcomes and expedite patients’ rehabilitation.

  15. Non-operative management of tube thoracostomy induced pulmonary artery injury.

    Science.gov (United States)

    Sundaramurthy, Senthilkumar R; Moshinsky, Randall A; Smith, Julian A

    2009-10-01

    Tube thoracostomy insertion is a common procedure in the management of air and fluid collections in the pleural space. Pulmonary artery injury is a rare but serious complication following intercostal catheterisation. This complication is usually managed surgically. We report a case of successful non-operative management of a pulmonary artery injury after tube thoracostomy.

  16. Predictors of successful non-operative management of grade III & IV blunt pancreatic trauma

    Directory of Open Access Journals (Sweden)

    Suman B Koganti

    2016-09-01

    Conclusions: Non-operative measures should be attempted in a select group of grade III&IV blunt pancreatic trauma. In hemodynamically stable patients with a controlled leak walled off as a pseudocyst without associated organ injuries and pancreatic necrosis, NOM has a higher success rate.

  17. Splenic injuries in children: The challenges of non operative management in a developing country

    Directory of Open Access Journals (Sweden)

    Osifo O

    2007-01-01

    Full Text Available Aim: This is to report the challenges and experience gained with non operative management of splenic injuries in a developing country where sophisticated imaging facilities are either not available or exorbitantly expensive. Materials and Methods: All patients who presented with splenic injury at the University of Benin Teaching Hospital between January, 2000 and December, 2006 were assessed and those who met the criteria were recruited for non operative management. Diagnosis of splenic injury was made by combining clinical assessment and ultrasound findings. Results: A total of 24 children with a mean age 12 ± 0.04 years and male/female ratio 1.7:1 were treated during the period. Road traffic accident, accounting for 50% of the cases was the major cause of trauma followed by falls from heights. Delay in presentation was a major concern as 62.5% of them were not referred until shock supervened. None of the patients could afford CT scan but ultrasound scan was able to confirm diagnosis in all. Basing decision on clinical parameters, non operative management was successfully done in 75% while 25% were operated as they could not meet the criteria. No mortality was recorded in the non operated group while one was recorded in those operated. The average length of hospitalization was two weeks. Conclusion: Non operative management of splenic injuries can be successfully done in a developing country using clinical parameters as a guide. The 75% of patients with splenic injury treated can be improved upon by health awareness campaign/improvement in government policy that will result in early presentation.

  18. Congenital right hemidiaphragmatic agenesis

    OpenAIRE

    Bilal Mirza; Zahid Bashir; Afzal Sheikh

    2012-01-01

    Congenital diaphragmatic hernia is a congenital defect of the diaphragm through which intestine and other viscera herniate into the chest. In extreme form of diaphragmatic maldevelopment, there might be a complete agenesis of diaphragm. A 45-day old male infant was presented with fever, cough and respiratory distress for a week. Chest radiograph showed right-sided congenital diaphragmatic hernia. The patient underwent surgical exploration and found to have an unusual and large defect of right...

  19. Genetics of congenital hypothyroidism

    OpenAIRE

    Park, S.; Chatterjee, V

    2005-01-01

    Congenital hypothyroidism is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment and infertility if untreated. Congenital hypothyroidism is usually sporadic but up to 2% of thyroid dysgenesis is familial, and congenital hypothyroidism caused by organification defects is often recessively inherited. The candidate genes associated with this genetically heterogeneous disorder form two main groups: those causing thyroid gland dysgenesis and those causin...

  20. Genetics Home Reference: congenital hypothyroidism

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions congenital hypothyroidism congenital hypothyroidism Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Congenital hypothyroidism is a partial or complete loss of function ...

  1. What Are Congenital Heart Defects?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Are Congenital Heart Defects? Congenital (kon-JEN-ih-tal) heart defects are problems ... carry blood to the heart or the body Congenital heart defects change the normal flow of blood through the ...

  2. 成人型胆总管囊肿的机器人手术疗效分析%Resection of adult choledochal cysts using robotic surgical system

    Institute of Scientific and Technical Information of China (English)

    刘斐; 彭承宏; 吴志翀; 金佳斌; 邓侠兴; 詹茜; 陈皓; 沈柏用

    2015-01-01

    Objective To investigate the feasibility, security and efficacy of robot-assisted surgery in resection of adult choledochal cysts. Methods The clinical data of 4 patients with the resection of choledochal cysts and Roux-en-Y hepati-cojejunostomy using robotic surgical system from 2010 to 2014 were analyzed retrospectively. A comparative study was made with 12 patients who underwent open resection of choledochal cysts and Roux-en-Y hepaticojejunostomy. Results All the operations were performed successfully both in robotic group without the conversion to laparotomy and in open group. The operation time was (127.5±35.0) (90-170) min with blood loss (25.0±28.9) (0-50) mL. No transfusion was given during and after the operation. The postoperative hospital stay was (11.8±3.9)(8-16) days. The operation time was shorter and the blood loss less in the robotic group than in the open group (P<0.05). No complications was found during the period of follow-up 5-31 months. Conclusions The resection of adult choledochal cysts and Roux-en-Y hepaticojejunostomy with robot-assisted surgery is secure and feasible with the advantages of mini-invasive and quick recovery.%目的:探讨成人型胆总管囊肿机器人辅助手术治疗的有效性、安全性及临床疗效。方法:回顾分析2010~2014年间我院应用机器人手术系统治疗4例成人型胆总管囊肿病人,行“胆总管囊肿切除加Roux-en-Y胆肠吻合术”的临床资料,与同期12例开腹手术治疗资料进行对比分析。结果:机器人组手术均获成功,无一例中转开腹。机器人组手术时间(127.5±35.0)(90~170) min,术中出血量(25.0±28.9)(0~50) mL,术中、术后均未输血,术后住院时间(11.8±3.9)(8~16) d。机器人组手术时间及术中出血量均少于开腹组(P<0.05)。随访5~31个月,无特殊症状及其他并发症。结论:应用机器人手术系统行胆总管囊肿切除加Roux-en-Y胆肠吻合术安全、

  3. Problems with Cash and Other Non-Operating Assets Value in the Process of Valuing Company

    Directory of Open Access Journals (Sweden)

    Piotr Szczepankowski

    2007-12-01

    Full Text Available In economic practice the process of valuing enterprises is based on potential earnings from companies operating assets ñ operating fixed assets and operating working capital. Cash and other non-operating assets (mainly financial are treated as unproductive, non-income assets. Eventually, in process of pricing their current, accounting value is added to income value of enterprise or cash is treated as source for quick covering the debts of firm, what of course indirectly improve for better value of equity (the lower financial risk. Not taking into account the profitable influence of cash value and other non-operating assets can negatively affect on result of final value of enterprise, reducing it. In the article two alternative approaches (separate and inclusive of cash value is presented. Also main determinants of estimating value of cash are described as well as potential threats of its valuation.

  4. Recurrence of biliary disease following non-operative management in elderly patients.

    Science.gov (United States)

    Bergman, Simon; Al-Bader, Mohammed; Sourial, Nadia; Vedel, Isabelle; Hanna, Wael C; Bilek, Aaron J; Galatas, Christos; Marek, Jonah E; Fraser, Shannon A

    2015-12-01

    The purpose of this study was to determine the proportion of symptomatic recurrence following initial non-operative management of gallstone disease in the elderly and to test possible predictors. This is a single institution retrospective chart review of patients 65 years and older with an initial hospital visit (V1) for symptomatic gallstone disease, over a 4-year period. Patients with initial "non-operative" management were defined as those without surgery at V1 and without elective surgery at visit 2 (V2). Baseline characteristics included age, sex, Charlson comorbidity index (CCI), diagnosis, and interventions (ERCP or cholecystostomy) at V1. Outcomes assessed over 1 year were as follows: recurrence (any ER/admission visit following V1), surgery, complications, and mortality. A survival analysis using a Cox proportional hazards model was performed to assess predictors of recurrence. There were 195 patients initially treated non-operatively at V1. Mean age was 78.3 ± 7.8 years, 45.6% were male, and the mean CCI was 2.1 ± 1.9. At V1, 54.4% had a diagnosis of biliary colic or cholecystitis, while 45.6% had a diagnosis of cholangitis, pancreatitis, or choledocholithiasis. 39.5% underwent ERCP or cholecystostomy. Excluding 10 patients who died at V1, 31.3% of patients had a recurrence over the study period. Among these, 43.5% had emergency surgery, 34.8% had complications, and 4.3% died. Median time to first recurrence was 2 months (range 6 days-4.8 months). Intervention at V1 was associated with a lower probability of recurrence (HR 0.3, CI [0.14-0.65]). One-third of elderly patients will develop a recurrence following non-operative management of symptomatic biliary disease. These recurrences are associated with significant rates of emergency surgery and morbidity. Percutaneous or endoscopic therapies may decrease the risk of recurrence.

  5. Congenital Insensitivity to Pain

    Directory of Open Access Journals (Sweden)

    Praveen Kumar B,

    2011-01-01

    Full Text Available Congenital Insensitivity to Pain belongs to the family of Hereditary Sensory and Autonomic Neuropathies (HSAN. It is a rare disorder of unknown etiology associated with loss of pain sensation. Cognition and sensation is otherwise normal and there is no detectable physical abnormality. We report a case of Congenital Insensitivity to Pain in a 3 year old female child.

  6. Multifocal Congenital Hemangiopericytoma.

    Science.gov (United States)

    Robl, Renata; Carvalho, Vânia Oliveira; Abagge, Kerstin Taniguchi; Uber, Marjorie; Lichtvan, Leniza Costa Lima; Werner, Betina; Mehrdad Nadji, Mehrdad

    2017-01-01

    Congenital hemangiopericytoma (HPC) is a rare mesenchymal tumor with less aggressive behavior and a more favorable prognosis than similar tumors in adults. Multifocal presentation is even less common than isolated HPC and hence its clinical and histologic recognition may be challenging. A newborn infant with multifocal congenital HPC causing severe deformity but with a favorable outcome after chemotherapy and surgical removal is reported.

  7. Key aspects congenital infection

    Directory of Open Access Journals (Sweden)

    Yu. V. Lobzin

    2014-01-01

    Full Text Available The key questions to solve the problem of congenital infection in the Russian Federation are: using in national practice over world accepted terminology adapted to the recommendations of the World Health Organization; representation of the modern concepts of an infectious process in the classification of congenital infections; scientific development and introducing in clinical practice the «standard case definitions», applied to different congenital infections; optimization of protocols and clinical guidelines for diagnosis, treatment and prevention of congenital infections; improvement a knowledge in the infectious disease for all  pecialists involved in the risk assessment of congenital infections, manage pregnancy and children. Based on our experience and analysis of publications, the authors suggest possible solutions.

  8. Diagnostic value of magnetic resonance cholangiopancreatography in low choledochal joint and its complications%MRCP对胆囊管低位汇合及其并发症的诊断价值

    Institute of Scientific and Technical Information of China (English)

    赵欣; 谢明; 陈竹卿; 王振山; 张书泽

    2015-01-01

    To investigate the diagnostic value of magnetic resonance cholangiopancreatography (MRCP) for di-agnosing low choledochal joint and its complications. MRCP results of 29 low choledochal joint patients con-firmed were analyzed retrospectively, and then compared with those by endoscopic retrograde cholaniopancreatography (ERCP). MRCP could display clearly the location of low choledochal joint, and the patients with complications involved 4 ones with cholecystolithiasis, 5 ones with cholangiolithiasis, 15 ones with cholecystolithiasis and cholangiolithi-asis, 3 ones with Mirizz syndrome, 2 ones with pancreatitis, 1 case with carcinoma of head of pancreas after cholecystec-tomy and 1 case of Vater ampullary carcinoma. Interoperative and ERCP findings proved that MRCP could be used for the diagnosis of low choledochal joint and its complications with no missed diagnosis. MRCP can be involved for the diagnosis of low choledochal joint and its complications, and thus can be used for preoperative planning and treat-ment of the complications.%目的:探讨磁共振胰胆管成像(magnetic resonance cholangiopancreatography,MRCP)对胆囊管低位汇合及其并发症的诊断价值。方法:回顾性分析29例MRCP检查发现的胆囊管低位汇合病例,与术中或内镜逆行胰胆管造影(endoscopic retrograde cholangiopancreatography,ERCP)检查结果相对照。结果:MRCP能清晰显示胆囊管汇入位置,并发症包括单纯胆囊结石4例,单纯胆管结石5例,胆囊及胆管均有结石15例,合并Mirizzi综合征3例,合并胰腺炎2例,胆囊切除术后患者合并胰头癌1例,合并乏特氏壶腹癌1例。对照术中或ERCP所见,MRCP术前检查胆囊管低位汇合及其并发症诊断符合率为100%。结论:MRCP可清晰显示胆囊管低位汇合及其并发症,能为术前制订手术方案及并发症处理提供重要信息。

  9. Congenital short pancreas

    Institute of Scientific and Technical Information of China (English)

    DU Juan; XU Guo-qiang; XU Ping; JIN En-yun; LIU Qiong; LI You-ming

    2007-01-01

    @@ Congenital short pancreas, also known as partial agenesis or hypoplasia of the dorsal pancreas1 is a rare congenital abnormality consisting of the parenchyma and ductal system restricted to the head with some residual dorsal tapering and arborizing ducts communicating with the minor papill.2 Complete pancreatic agenesis is fatal, and only nine possible examples of partial agenesis have been previously reported in adults in the literature.3-10 Three of them were polysplenia syndrome associated with short pancreas,and only six patients with congenital short pancreas with normal situs. Here we present a new case associated with steatorrhoea.

  10. Congenital symmastia revisited

    DEFF Research Database (Denmark)

    Sillesen, Nanna H; Hölmich, Lisbeth R; Siersen, Hans Erik

    2012-01-01

    Symmastia is defined as medial confluence of the breast. The term 'symmastia' is modified from Greek (syn meaning 'together', and mastos meaning 'breast') and was first presented by Spence et al. in 1983. Two forms of symmastia exist: an iatrogenic and a congenital version. Congenital symmastia...... is a rare condition in which web-like soft tissue traverses the sternum to connect the breasts medially. The literature on congenital symmastia is limited, few cases have been published, and knowledge about ideal treatment is still insufficient....

  11. Outcome of non-operative management of femoral shaft fractures in children

    Directory of Open Access Journals (Sweden)

    Akinyoola A

    2011-01-01

    Full Text Available Background: Femoral shaft fractures are common injuries in childhood. There is paucity of information on their presentation and outcome of the available treatment methods in the African population. This study evaluated the outcome of non-operative methods of treatment of femoral shaft fractures in our centre. Patients and Methods: A retrospective review of the database of children aged 14 years and below with femoral shaft fractures treated non-operatively over a 10-year period. Results: A total of 134 patients with 138 fractures met the study criteria. This consisted of 71 boys (mean age = 6.1 years ± SD and 63 girls (mean age = 6.5 years ± SD. Pedestrian vehicular accident was the most common cause of femoral shaft fractures in the study population. The midshaft was the most common site of fractures. There were associated injuries to other parts of the body (especially head injury in 34.3% of the patients. The commonest mode of treatment was skin traction only (87.7%. The mean time to fracture union was 4.9 weeks ± SD (range = 3-15 weeks. The mean length of hospitalisation was 6.7 weeks ± SD (range = 5 days-11 weeks. There was a fairly strong positive correlation between the length of hospitalisation and the presence of associated injuries, especially head injury, upper limb fractures and bilaterality of the fractures. The mean total cost of treatment was #7685 (Naira or $51.2 (range = $14.2-$190. At the last follow up, 97.8% of the fractures united without significant angulation or shortening. Conclusion: The outcome of non-operative treatment of femoral shaft fractures in our setting is comparable to the results of other workers. Methods of treatment that shorten the length of hospitalisation without unduly increasing cost should be encouraged.

  12. Genetics Home Reference: Leber congenital amaurosis

    Science.gov (United States)

    ... amaurosis, Leber congenital congenital amaurosis of retinal origin congenital retinal blindness CRB dysgenesis neuroepithelialis retinae hereditary epithelial dysplasia of retina hereditary retinal aplasia heredoretinopathia congenitalis LCA ...

  13. Congenital orbital teratoma

    Directory of Open Access Journals (Sweden)

    Shereen Aiyub

    2013-01-01

    Full Text Available We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The patient underwent a lid-sparing exenteration with frozen section control of the apical margin. A dermis fat graft from the groin was placed beneath the lid skin to provide volume. Histopathology revealed mature tissues from each of the three germ cell layers which confirmed the diagnosis of mature teratoma. We describe the successful use of demis fat graft in socket reconstruction following lid-sparing exenteration for congenital orbital teratoma.

  14. Congenital Ocular Motor Apraxia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-06-01

    Full Text Available The clinical and neuroradiological findings, and long-term intellectual prognosis in 10 patients (4 boys and 6 girls with congenital ocular motor apraxia (COMA are reviewed by researchers at Tottori University, Yonago, Japan.

  15. Congenital Adrenal Hyperplasia

    National Research Council Canada - National Science Library

    Speiser, Phyllis W

    2015-01-01

    Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group...

  16. Congenital cutis laxa

    Directory of Open Access Journals (Sweden)

    Acharya K

    1996-01-01

    Full Text Available A 16 days old male baby had congenital cutis laxa without family history. He had redundant and lax skin all over the body with slanting of the palpebral fissures medially and broad nasal root.

  17. Congenital lobar emphysema

    Science.gov (United States)

    Tural-Kara, Tuğçe; Özdemir, Halil; Çiftçi, Ergin; İnce, Erdal

    2016-01-01

    Congenital lobar emphysema is a rare disease, which is characterized by pulmoner hyperinflation. Depending on the degree of bronchial obstruction, the clinical presentation may be variable. We report a rare case with congenital lobar emphysema in a 38-days-old male infant who presented with severe respiratory distress and hypertension. Air trapping in the left upper lung and significant mediastinal shift to the right were observed on the chest x-ray. Emphysematous changes were detected on the thorax computed tomography and considered as congenital lobar emphysema. The upper left lobectomy was successfully performed by pediatric surgeons. On postoperative follow up, no sign of respiratory distress occurred and the patient was normotensive. In this report, a case with congenital lobar emphysema, which is a rare cause of respiratory distress and hypertension is discussed. PMID:27381542

  18. Congenital tracheobiliary fistula.

    NARCIS (Netherlands)

    Croes, F.; Nieuwaal, N.H. van; Heijst, A.F.J. van; Enk, G.J. van

    2010-01-01

    Congenital tracheobiliary fistula is a rare malformation that can present with a variety of respiratory symptoms. We present a case of a newborn patient with a tracheobiliary fistula and severe respiratory insufficiency needing extracorporal membrane oxygenation to recover.

  19. Congenital adrenal hyperplasia

    Science.gov (United States)

    ... to treat congenital adrenal hyperplasia do not usually cause side effects such as obesity or weak bones, because the doses replace the hormones that the child's body cannot make. It is important for parents ...

  20. Congenital imprinting disorders

    DEFF Research Database (Denmark)

    Eggermann, Thomas; Netchine, Irène; Temple, I Karen

    2015-01-01

    Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of imprinted genes. Each ID is characterised...... EUCID.net (European network of congenital imprinting disorders) now aims to promote better clinical care and scientific investigation of imprinting disorders by establishing a concerted multidisciplinary alliance of clinicians, researchers, patients and families. By encompassing all IDs and establishing...

  1. Choledochal 'clipoliths' after cholecystectomy.

    Science.gov (United States)

    Brogdon, B G; Neuffer, F H; Siner, J R

    1996-11-01

    Residual or recurrent stones in the common bile duct can pose a difficult diagnostic problem in the symptomatic postcholecystectomy patient. Although incrustation of unabsorbed suture material is the most important cause of stone recurrence in the common bile duct after surgery, hemostatic clips may also (though rarely) provide a nucleus for stone formation. We present two cases in which this occurred. Careful attention to the position and orientation of surgical clips on serial postoperative film studies can be most helpful in diagnosing this rare condition.

  2. Case Report: Successful non-operative management of spontaneous splenic rupture in a patient with babesiosis

    Directory of Open Access Journals (Sweden)

    Tobler William D

    2011-01-01

    Full Text Available Abstract Background Babesiosis is a zoonotic disease transmitted by the Ixodes tick species. Infection often results in sub-clinical manifestations; however, patients with this disease can become critically ill. Splenic rupture has been a previously reported complication of babesiosis, but treatment has always led to splenectomy. Asplenia places a patient at greater risk for overwhelming post-splenectomy infection from encapsulated bacteria, Lyme disease, Ehrlichia as well as Babesia microti. Therefore, avoiding splenectomy in these patients must be considered by the physician; particularly, if the patient is at risk for re-infection by living in an endemic area. Case Presentation A 54 year-old male from the northeast United States presented with left upper quadrant abdominal pain associated with fever, chills, night sweats and nausea. A full evaluation revealed active infection with Babesia microti and multiple splenic lacerations. This patient was successfully treated with appropriate pharmacological therapy and non-operative observation for the splenic injury. Conclusion Patients diagnosed with Babesia microti infection are becoming more common, especially in endemic areas. Although clinical manifestations are usually minimal, this infection can present with significant injuries leading to critical illness. We present the successful non-operative treatment of a patient with splenic rupture due to babesiosis infection.

  3. Case Report: Successful non-operative management of spontaneous splenic rupture in a patient with babesiosis.

    Science.gov (United States)

    Tobler, William D; Cotton, Deborah; Lepore, Timothy; Agarwal, Suresh; Mahoney, Eric J

    2011-01-20

    Babesiosis is a zoonotic disease transmitted by the Ixodes tick species. Infection often results in sub-clinical manifestations; however, patients with this disease can become critically ill. Splenic rupture has been a previously reported complication of babesiosis, but treatment has always led to splenectomy. Asplenia places a patient at greater risk for overwhelming post-splenectomy infection from encapsulated bacteria, Lyme disease, Ehrlichia as well as Babesia microti. Therefore, avoiding splenectomy in these patients must be considered by the physician; particularly, if the patient is at risk for re-infection by living in an endemic area. A 54 year-old male from the northeast United States presented with left upper quadrant abdominal pain associated with fever, chills, night sweats and nausea. A full evaluation revealed active infection with Babesia microti and multiple splenic lacerations. This patient was successfully treated with appropriate pharmacological therapy and non-operative observation for the splenic injury. Patients diagnosed with Babesia microti infection are becoming more common, especially in endemic areas. Although clinical manifestations are usually minimal, this infection can present with significant injuries leading to critical illness. We present the successful non-operative treatment of a patient with splenic rupture due to babesiosis infection.

  4. Splenic artery embolisation in the non-operative management of blunt splenic trauma in adults

    Directory of Open Access Journals (Sweden)

    Richard J. Cormack

    2016-03-01

    Full Text Available Background: The purpose of this study was to evaluate the splenic salvage rate with angioembolisation in the non-operative management (NOM of blunt splenic injury.Methods: We conducted a retrospective analysis of patients presenting to our Level I trauma centre with computed tomography (CT-confirmed splenic injury following blunt trauma and in whom angioembolisation was utilised in the algorithm of NOM. Data review included CT and angiography findings, embolisation technique and patient outcomes.Results: Between January 2005 and April 2010, 60 patients with splenic injury following blunt trauma underwent NOM, which included splenic artery embolisation (SAE. All patients included in the study required a preadmission. CT scan was used to document the American Association for the Surgery of Trauma (AAST grade of splenic injury. The average injury grade was 3.0. The non-operative splenic salvage rate following SAE was 96.7% with statistically similar salvage rates achieved for grades II to IV injuries. The quantity of haemoperitoneum and the presence of a splenic vascular injury did not significantly affect the splenic salvage rate. The overall complication rate was 27%, of which 15% were minor and 13% were major.Conclusion: SAE is a safe and effective treatment strategy in the NOM of blunt splenic injury. The quantity of haemoperitoneum, the presence of vascular injury and embolisation technique did not significantly affect the splenic salvage rate.

  5. Traumatic First Time Shoulder Dislocation: Surgery vs Non-Operative Treatment

    Directory of Open Access Journals (Sweden)

    Ioannis Polyzois

    2016-04-01

    Full Text Available Management of first shoulder dislocation following reduction remains controversial. The two main options are immobilisation and arthroscopic stabilisation. The aim of this article is to highlight some of the issues that influence decision making when discussing management options with these patients, including natural history of the first time dislocation, outcomes of surgery and non-operative management particularly on the risk of future osteoarthritis (OA, the effects of delaying surgery and the optimal method of immobilisation. Extensive literature review was performed looking for previous publication addressing 4 points. i Natural history of primary shoulder dislocation ii Effect of surgical intervention on natural history iii Risk of long term osteoarthritis with and without surgical intervention iv Immobilisation techniques post reduction. Individuals younger than 25 years old are likely to re-dislocate with non-operative management. Surgery reduces risk of recurrent instability. Patients with recurrent instability appear to be at a higher risk of OA. Those who have surgical stabilisation do not appear to be at a higher risk than those who dislocate just once, but are less likely to develop OA than those with recurrent instability. Delaying surgery makes the stabilisation more demanding due to elongation of capsule, progressive labro-ligamentous injury, prevalence and severity of glenoid bone loss. Recent studies have failed to match the preliminary outcomes associated with external rotation braces. Defining the best timing and type of treatment remains a challenge and should be tailored to each individual’s age, occupation and degree of physical activity.

  6. Comparison of Single-Incision and Conventional Laparoscopic Cyst Excision and Roux-en-Y Hepaticojejunostomy for Children with Choledochal Cysts.

    Science.gov (United States)

    Tang, Yingming; Li, Fei; He, Guoqing

    2016-08-01

    The purpose of this study was to elucidate the potential benefits of single-incision laparoscopic Roux-en-Y hepaticojejunostomy comparing the conventional laparoscopic procedures. From January 2013 to July 2013, 17 consecutive children with choledochal cysts received single-incision laparoscopic Roux-en-Y hepaticojejunostomies by a single surgeon at our institution. Seventeen standard laparoscopic hepaticojejunostomies of consecutive children with choledochal cysts from July 2012 to December 2012 were employed as control. Demographic and perioperative information was identified retrospectively using clinic and hospital records including gender, age, total operating time, estimated blood loss, time to oral intake, drainage removal time, postoperative complications, and postoperative hospital stay. One patient was converted to open surgery and another 8-year-old boy conversed to conventional four-port laparoscopic procedure. There were no significant differences between the conventional laparoscopic group and the single-incision laparoscopic group with regard to preoperative variables including age (P = 0.697) and sex distribution (P = 1.000). For mean operative time (209.9 ± 7.5 vs 204.1 ± 6.9 min, P = 0.951), estimated blood loss (10.7 ± 1.1 vs 13.4 ± 1.7 ml, P = 0.103), time to oral intake (3.73 ± 0.21 vs 3.77 ± 0.20 days, P = 0.889), drainage removal time (4.20 ± 0.45 vs 4.06 ± 0.23 days, P = 0.067), and postoperative hospital stay (7.60 ± 0.25 vs 7.41 ± 0.21 days, P = 0.627), the differences were also nonsignificant. Nevertheless, this technique demonstrated improved cosmetic outcomes comparing with the conventional laparoscopic group. The results showed better cosmetic results and comparable postoperative outcomes. However, well-designed prospective studies are warranted to better address this issue.

  7. The long-term functional outcome of type II odontoid fractures managed non-operatively.

    LENUS (Irish Health Repository)

    Butler, J S

    2010-10-01

    Odontoid fractures currently account for 9-15% of all adult cervical spine fractures, with type II fractures accounting for the majority of these injuries. Despite recent advances in internal fixation techniques, the management of type II fractures still remains controversial with advocates still supporting non-rigid immobilization as the definitive treatment of these injuries. At the NSIU, over an 11-year period between 1 July 1996 and 30 June 2006, 66 patients (n = 66) were treated by external immobilization for type II odontoid fractures. The medical records, radiographs and CT scans of all patients identified were reviewed. Clinical follow-up evaluation was performed using the Cervical Spine Outcomes Questionnaire (CSOQ). The objectives of this study were to evaluate the long-term functional outcome of patients suffering isolated type II odontoid fractures managed non-operatively and to correlate patient age and device type with clinical and functional outcome. Of the 66 patients, there were 42 males and 24 females (M:F = 1.75:1) managed non-operatively for type II odontoid fractures. The mean follow-up time was 66 months. Advancing age was highly correlated with poorer long-term functional outcomes when assessing neck pain (r = 0.19, P = 0.1219), shoulder and arm pain (r = 0.41, P = 0.0007), physical symptoms (r = 0.25, P = 0.472), functional disability (r = 0.24, P = 0.0476) and psychological distress (r = 0.41, P = 0.0007). Patients >65 years displayed a higher rate of pseudoarthrosis (21.43 vs. 1.92%) and established non-union (7.14 vs. 0%) than patients <65 years. The non-operative management of type II odontoid fractures is an effective and satisfactory method of treating type II odontoid fractures, particularly those of a stable nature. However, patients of advancing age have been demonstrated to have significantly poorer functional outcomes in the long term. This may be linked to higher rates of non-union.

  8. The role of non-operating income in community benefit provision by not-for-profit hospitals.

    Science.gov (United States)

    Song, Paula H; McCullough, Jeffrey S; Reiter, Kristin L

    2013-01-01

    Not-for-profit hospitals are under increased public scrutiny for providing what some view as insufficient levels of community benefit compared to their tax-exempt benefits. One potential driver of community benefit is financial surplus, which arises from both patient care (operating) activities and non-patient care (non-operating) activities. This study addresses the effect of hospitals' non-operating income on not-for-profit hospitals' provision of community benefit. The study sample includes 217 unique not-for-profit, non-governmental, general, acute care hospitals in California between 1997 and 2010 that filed annual reports with the California Office of Statewide Health Planning and Development (OSHPD). We model the effect of hospitals' operating and non-operating incomes on hospitals' community benefit, controlling for observable hospital characteristics such as scale and system membership, local competition, time trends, and hospital fixed effects. Our results indicate that non-operating income has no effect on levels of community benefit provided by not-for-profit hospitals. This finding suggests that not-for-profit hospitals budget for uncompensated care at levels that are prioritized over other potential investments if non-operating income falls, but remain fixed if non-operating income rises.

  9. Genetics of Congenital Cataract.

    Science.gov (United States)

    Pichi, Francesco; Lembo, Andrea; Serafino, Massimiliano; Nucci, Paolo

    2016-01-01

    Congenital cataract is a type of cataract that presents at birth or during early childhood, and it is one of the most easily treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of 1-6 cases per 10,000 live births. Approximately 50% of all congenital cataract cases may have a genetic cause, and such cases are quite heterogeneous. Although congenital nuclear cataract can be caused by multiple factors, genetic mutation remains the most common cause. All three types of Mendelian inheritance have been reported for cataract; however, autosomal dominant transmission seems to be the most frequent. The transparency and high refractive index of the lens are achieved by the precise architecture of fiber cells and homeostasis of the lens proteins in terms of their concentrations, stabilities, and supramolecular organization. Research on hereditary congenital cataract has led to the identification of several classes of candidate genes that encode proteins such crystallins, lens-specific connexins, aquaporin, cytoskeletal structural proteins, and developmental regulators. In this review, we highlight the identified genetic mutations that account for congenital nuclear cataract.

  10. Treatment of ruptured Achilles tendon: Operative or non-operative procedure?

    Science.gov (United States)

    Cukelj, Fabijan; Bandalovic, Ante; Knezevic, Josip; Pavic, Arsen; Pivalica, Bozen; Bakota, Bore

    2015-11-01

    The aim of this study was to compare the efficiency of non-operative and surgical procedures in the treatment of ruptured Achilles tendon in athletes (professional and amateur). Ninety professional or amateur athletes with rupture of the Achilles tendon were included in the study between 1998 and 2013. The athletes were aged between 25 and 40 years (mean 34.83±4.65). A total of 30 athletes underwent an open procedure, 30 were treated with a percutaneous method and 30 were treated non-operatively. All operated patients were tested one year after the surgical procedure. An isokinetic dynamometer was used to compare the open and percutaneous methods. The results for the patients who were treated using the percutaneous method were 15% better than those for the patients who underwent the open procedure; the results for the group treated conservatively were 20% better than those for the group treated percutaneously. The percutaneous method was easier technically than the open method. Time spent in hospital was 14.5 times shorter with the percutaneous procedure compared with the open procedure (percutaneous procedure: range 0.5-2 days, mean 0.79±0.36; open procedure: range 10-24 days, mean 11.46±2.70; pAchilles tendon in the group treated with the percutaneous procedure. One patient in the group treated with the open procedure had postoperative infection (4.2%). In the non-surgical (conservatively treated) group, there were three reruptures of the Achilles tendon within one year, and one patient developed adhesions that resulted in loss of function and had to undergo an operation. The percutaneous method is the best method of surgical treatment for Achilles tendon rupture. Copyright © 2015 Elsevier Ltd. All rights reserved.

  11. Laparoscopic Management of a Proximal Jejunal Gallstone Ileus with Patulous Ampulla and Choledochal Cyst-a Report of Unusual Presentation and a Review.

    Science.gov (United States)

    Narkhede, Rajvilas Anil; Bada, Vijaykumar C; Kona, Lakshmi Kumari

    2017-02-01

    Gallstone ileus is a diagnosis of rarity, and a proximal site of obstruction in a young patient is even rare. Of the three cases in our experience, we found two cases of gallstone ileus (GSI) with typical epidemiology and presentation, one had combination of multiple rare associations. We report such a case, suspected to have gallstone ileus on ultrasound and confirmed diagnosis on computed tomography. Presence of biliary-enteric fistula, old age, and obstructive features, as in typical cases, was a bigger asset for diagnosis, but it was difficult to entertain diagnosis of GSI in young girl in absence of a demonstrable biliary-enteric fistula, with uncommon association of choledochal cyst and sickle cell disease. A very surprising finding, dilated major papilla, could however explain the pathogenesis which has also been reported in the past. Although differential opinions regarding management exist, we decided to follow two-stage surgery as our institute protocol. A minimal access approach has been immensely helpful in accurate diagnosis, and expedative management with early recovery has been proven in the past studies which we agreed with our experience.

  12. Adults with Congenital Heart Defects

    Science.gov (United States)

    ... Disease Venous Thromboembolism Aortic Aneurysm More Web Booklet: Adults With Congenital Heart Defects Updated:Aug 29,2017 ... the list below to learn more. Web Booklet: Adults With Congenital Heart Defects Introduction Introduction: Adults with ...

  13. Congenital tracheobronchial stenosis.

    Science.gov (United States)

    Hewitt, Richard J; Butler, Colin R; Maughan, Elizabeth F; Elliott, Martin J

    2016-06-01

    Congenital tracheobronchial stenosis is a rare disease characterized by complete tracheal rings that can affect variable lengths of the tracheobronchial tree. It causes high levels of morbidity and mortality both due to the stenosis itself and to the high incidence of other associated congenital malformations. Successful management of this complex condition requires a highly individualized approach delivered by an experienced multidisciplinary team, which is best delivered within centralized units with the necessary diverse expertise. In such settings, surgical correction by slide tracheoplasty has become increasingly successful over the past 2 decades such that long-term survival now exceeds 88%, with normalization of quality of life scores for patients with non-syndrome-associated congenital tracheal stenosis. Careful assessment and planning of treatment strategies is of paramount importance for both successful management and the provision of patients and carers with accurate and realistic treatment counseling. Copyright © 2016 Elsevier Inc. All rights reserved.

  14. Congenital cataract screening

    Directory of Open Access Journals (Sweden)

    Zhale Rajavi

    2016-01-01

    Full Text Available Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender.

  15. Congenital Syphilis: literature review

    Directory of Open Access Journals (Sweden)

    Eduardo Chaida Sonda

    2013-06-01

    Full Text Available Syphilis is an infectious disease caused by Treponema pallidum and has high rates of vertical transmission, which can reach 100% depending on the maternal disease and stage of pregnancy. The diagnosis of gestational syphilis is simple and its screening is required during the prenatal period. However, this disease still has a high prevalence, affecting two million pregnant women worldwide. The procedures performed in newborns with congenital syphilis represent costs that are three-fold higher than the ones spent with a baby without this infection. The treatment is generally carried out with penicillin and must be extended to sexual partners. Inadequate or lack of treatment of congenital syphilis can result in miscarriage, premature birth, acute complications and other fetal sequelae. KEYWORDS: Congenital syphilis. Treponema pallidum. Vertical transmission.

  16. Congenital right hemidiaphragmatic agenesis

    Directory of Open Access Journals (Sweden)

    Bilal Mirza

    2012-01-01

    Full Text Available Congenital diaphragmatic hernia is a congenital defect of the diaphragm through which intestine and other viscera herniate into the chest. In extreme form of diaphragmatic maldevelopment, there might be a complete agenesis of diaphragm. A 45-day old male infant was presented with fever, cough and respiratory distress for a week. Chest radiograph showed right-sided congenital diaphragmatic hernia. The patient underwent surgical exploration and found to have an unusual and large defect of right hemidiaphragm. The diaphragm was absent on anterior and lateral aspects of the chest wall and only a small rim of diaphragm was present on posterior aspect. The defect was identified as agenesis of right hemidiaphragm and successfully managed by suturing the posterior rim of diaphragm to the intercostal muscles and ribs. This report describes successful management of hemidiaphragmatic agenesis without incorporating a prosthetic material.

  17. Congenital right hemidiaphragmatic agenesis.

    Science.gov (United States)

    Mirza, Bilal; Bashir, Zahid; Sheikh, Afzal

    2012-01-01

    Congenital diaphragmatic hernia is a congenital defect of the diaphragm through which intestine and other viscera herniate into the chest. In extreme form of diaphragmatic maldevelopment, there might be a complete agenesis of diaphragm. A 45-day old male infant was presented with fever, cough and respiratory distress for a week. Chest radiograph showed right-sided congenital diaphragmatic hernia. The patient underwent surgical exploration and found to have an unusual and large defect of right hemidiaphragm. The diaphragm was absent on anterior and lateral aspects of the chest wall and only a small rim of diaphragm was present on posterior aspect. The defect was identified as agenesis of right hemidiaphragm and successfully managed by suturing the posterior rim of diaphragm to the intercostal muscles and ribs. This report describes successful management of hemidiaphragmatic agenesis without incorporating a prosthetic material.

  18. Nitrofurantoin and congenital abnormalities

    DEFF Research Database (Denmark)

    Czeizel, A.E.; Rockenbauer, M.; Sørensen, Henrik Toft;

    2001-01-01

    Objective: To study human teratogenic potential of oral nitrofurantoin treatment during pregnancy. Materials and Methods: Pair analysis of cases with congenital abnormalities and matched population controls in the population-based dataset of the Hungarian Case-Control Surveillance of Congenital...... or fetuses with Down’s syndrome (patient controls), 23 (2.8%) pregnant women were treated with nitrofurantoin. The above differences between population controls and cases may be connected with recall bias, because the case-control pair analysis did not indicate a teratogenic potential of nitrofurantoin use...... during the second and the third months of gestation, i.e. in the critical period for major congenital abnormalities. Conclusion: Treatment with nitrofurantoin during pregnancy does not present detectable teratogenic risk to the fetus....

  19. Congenital Cataract Screening

    Science.gov (United States)

    Rajavi, Zhale; Sabbaghi, Hamideh

    2016-01-01

    Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year) is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender. PMID:27621790

  20. Congenital Heart Defects (For Parents)

    Science.gov (United States)

    ... Old Feeding Your 1- to 2-Year-Old Congenital Heart Defects KidsHealth > For Parents > Congenital Heart Defects A A A What's in this article? How ... a Problem en español Anomalías cardíacas congénitas A congenital heart defect is a problem in the heart's structure that ...

  1. Congenital Abdominal Wall Defects

    DEFF Research Database (Denmark)

    Risby, Kirsten; Jakobsen, Marianne Skytte; Qvist, Niels

    2016-01-01

    complications were seen in five (15%) children: four had detachment of the mesh and one patient developed abdominal compartment syndrome. Mesh related clinical infection was observed in five children. In hospital mortality occurred in four cases (2 gastroschisis and 2 omphalocele) and was not procedure......OBJECTIVE: To evaluate the clinical utility of GORE® DUALMESH (GDM) in the staged closure of large congenital abdominal wall defects. MATERIALS AND METHODS: Data of patients with congenital abdominal wall defects managed with GDM was analyzed for outcome regarding complete fascial closure; mesh...

  2. Congenital Toxoplasmosis: A Review.

    Science.gov (United States)

    Hampton, Marissa Martinez

    2015-01-01

    Acute infection of toxoplasmosis during pregnancy is detrimental to the developing fetus. In the United States, approximately 1 in 10,000 live births are affected by congenital toxoplasmosis. Although multifactorial in etiology, maternal infection is primarily attributed to the consumption of contaminated meat or water. Infection and transmission to the fetus may result in devastating neurologic impairment. Screening methods for all pregnant women should be implemented in routine prenatal care. This article will highlight the inherent dangers of congenital toxoplasmosis, while including general care of the fetus for prevention of transmission, medical management, and long-term outcomes.

  3. Congenital preduodenal portal vein

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sang Jin; Hwang, Mi Soo; Huh, Young Soo; Park, Bok Hwan [College of Medicine, Youngnam University, Gyeongsan (Korea, Republic of)

    1991-03-15

    Congenital preduodenal portal vein, first reported by Knight in 1921, is an extremely rare congenital anomaly in which the portal vein passes anteriorly to the duodenum rather than posteriorly in its normal location. It is of surgical significance because it may cause difficulties in operations involving the gall bladder, biliary duct, or duodenum. Recently, we experienced 2 cases of preduodenal portal vein. One was found during surgical exploration for the diagnosis and correction of malrotation of the bowels and the other in a 3 day-old male newborn associated with dextrocardia, situs inversus, and duodenal obstruction by diaphragm. We report these 2 cases with a review of the literature.

  4. Ullrich Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Goknur Haliloglu

    2011-09-01

    Full Text Available ObjectiveUllrich congenital muscular dystrophy is a rather severe type of congenitalmuscular dystrophy with early onset features related to motor development.In general it is inherited in autosomal recessive principles, however in theWestern world mostly seen with de novo dominant mutations in the collagenVI genes. Milder form of the condition is the Bethlem myopathy. There may beoverlap forms in the clinic resembling the Ehler-Danlos syndrome. There hasbeen some radical efforts for cure especially through the apoptosis cascades.Key words: Ullrich congenital muscular dystrophy, collgen VI genes, Bethlemmyopathy, autophagy.

  5. Ullrich Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Goknur Haliloglu

    2011-06-01

    Full Text Available ObjectiveUllrich congenital muscular dystrophy is a rather severe type of congenital muscular dystrophy with early onset features related to motor development.In general it is inherited in autosomal recessive principles, however in the Western world mostly seen with de novo dominant mutations in the collagen VI genes. Milder form of the condition is the Bethlem myopathy. There may be overlap forms in the clinic resembling the Ehler-Danlos syndrome. There has been some radical efforts for cure especially through the apoptosis cascades.

  6. Congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    1995-01-01

    950283 Surgical treatment of congenital coronaryartery fistula.CAO Qingheng(曹庆亨),et al.DeptCardiovasc Surg,Shanghai Chest Hosp,Shanghai,200030.Shanghai Med J 1995;18(1):10-12.From October 1957 through December 1990,twenty-five patients with congenital coronary artery fistula(CCAF),including 3 cases complicated with giantcoronary artery aneurysms,underwent surgical repair.The ages ranged from 4 to 47 years (mean 19.8years).CCAF originated from the right coronaryartery in 17 cases (68.0%) and terminated into RA,RV,pulmonary artery (PA) or LV,in 8 cases (32.

  7. Congenital laryngeal anomalies,

    Directory of Open Access Journals (Sweden)

    Michael J. Rutter

    2014-12-01

    Full Text Available Introduction: It is essential for clinicians to understand issues relevant to the airway management of infants and to be cognizant of the fact that infants with congenital laryngeal anomalies are at particular risk for an unstable airway. Objectives: To familiarize clinicians with issues relevant to the airway management of infants and to present a succinct description of the diagnosis and management of an array of congenital laryngeal anomalies. Methods: Revision article, in which the main aspects concerning airway management of infants will be analyzed. Conclusions: It is critical for clinicians to understand issues relevant to the airway management of infants.

  8. Pseudoamblyopia in Congenital Cyclotropia

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    Antonio Frattolillo

    2017-01-01

    Full Text Available Purpose. To study the effect of surgery on amblyopia and suppression associated with congenital cyclovertical strabismus. Methods. The fixation pattern was investigated with microperimetry before and soon after surgery in ten consecutive children operated for congenital superior oblique palsy at the S. Martino Hospital, Belluno, Italy, between September 2014 and December 2015. Changes in visual performance in terms of best-corrected visual acuity (BCVA and stereopsis between the day before and one week after surgery were also evaluated. No other amblyopia treatment has been administered during the time study. Results. Surgical correction of the excyclodeviation in congenital SO palsy determined monocular and binocular sensory consequences: monocularly, in the cyclodeviated amblyopic eye, BCVA (0.46–0.03 LogMAR; p<0.0001 and the fixation pattern improved, as demonstrated by microperimetry examination. Binocularly, stereopsis improved or emerged while suppression at the Worth four-dot test disappeared. Conclusions. In the absence of further amblyopic factors such as coexisting constant vertical and/or horizontal deviation and anisometropia, the amblyopia encountered in congenital SO palsy may resolve soon after the surgical alignment. Therefore, it may be considered and defined “pseudoamblyopia.”

  9. Identification of congenital deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    the complexity in identifying congenital deafblindness. It is concluded that determining deafblindness should not be limited to medical procedures (vision and hearing tests) alone, but may also involve a lengthy process to assess the level of sense functioning the individual possesses....

  10. Congenital Erythropoietic Porphyria (CEP)

    Science.gov (United States)

    ... gov Website: http://www2.niddk.nih.gov/ References JOURNAL ARTICLES Christiansen AL, Aagaard L, Krag A, Rasmussen ... homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic ... a Doctor Clinical Studies Porphyria featured Television and Other Media AIP ...

  11. Congenital cutis laxa

    Directory of Open Access Journals (Sweden)

    Pavithran K

    1992-01-01

    Full Text Available A case of congenital cutis laxa is reported in a male infant. Heavy wrinkles on the forehead, ectropion of the lower eyelids and sagging of the skin of the cheeks and chin gave the appearance of ar, old man. In spite of extensive skin involvement, the general health of the child remained unaffected.

  12. Giant Congenital Melanocytic Nevus

    DEFF Research Database (Denmark)

    Rasmussen, Bo Sonnich; Henriksen, Trine Foged; Kølle, Stig-Frederik Trojahn

    2015-01-01

    Giant congenital melanocytic nevi (GCMN) occur in 1:20,000 livebirths and are associated with increased risk of malignant transformation. The treatment of GCMN from 1981 to 2010 in a tertiary referral center was reviewed evaluating the modalities used, cosmetic results, associated complications...

  13. Congenital Heart Information Network

    Science.gov (United States)

    ... and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright ©1996 - 2016 C.H.I.N. All rights reserved TX4-390-685 Original site design and HTML by Panoptic Communications

  14. Congenital contractural arachnodactyly.

    Science.gov (United States)

    Bjerkreim, I; Skogland, L B; Trygstad, O

    1976-06-01

    Five cases of congenital contractural arachnodactyly (CCA) are reported. Three belong to the one family. CCA has often been mistaken for Marfan's disease and arthrogrypois multiplex. Because CCA has a more favourable prognosis, it is very important to be able to recognize this syndrome.

  15. Congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    1997-01-01

    970296 Evaluating the degree of pulmonary vascularlesions in congenital heart disease with selective pul-monary angiography. PAN Shiwei(潘世伟), et al.Fuwai Hosp, CAMS & PUMC, Beijing, 100037. Chin JCardiol 1997; 25(1): 39-41. Objective: To evaluate the degree of pulmonary vas-

  16. Congenital Absence of Tibia

    Directory of Open Access Journals (Sweden)

    Sudesh Sharma, Saleem Mir, Vikrant Sharma, Irshad Dar, Rafee

    2002-10-01

    Full Text Available Congenital absence of tibia is a rare anomaly. We repol1 a case who presented at the age of 3 years withabsence of tibia right side with associated anomolies and was managed by reconstruction of the kneeand ankle joints b transfer of fibula

  17. Congenital Lumbar Hernia

    Directory of Open Access Journals (Sweden)

    Sanjay Sharma

    2008-01-01

    Full Text Available Lumbar hernia is a rare hernia. It constitutes less than one percent of all abdominal hernias. It can becongenital or acquired. Acquired can occur either spontaneously or after surgery or trauma. Only 300cases of lumbar hernia are reported till date. We report a case of congenital lumbar hernia in one month oldmale baby

  18. Congenitally corrected transposition

    Directory of Open Access Journals (Sweden)

    Debich-Spicer Diane

    2011-05-01

    Full Text Available Abstract Congenitally corrected transposition is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations. Incidence has been reported to be around 1/33,000 live births, accounting for approximately 0.05% of congenital heart malformations. Associated malformations may include interventricular communications, obstructions of the outlet from the morphologically left ventricle, and anomalies of the tricuspid valve. The clinical picture and age of onset depend on the associated malformations, with bradycardia, a single loud second heart sound and a heart murmur being the most common manifestations. In the rare cases where there are no associated malformations, congenitally corrected transposition can lead to progressive atrioventricular valvar regurgitation and failure of the systemic ventricle. The diagnosis can also be made late in life when the patient presents with complete heart block or cardiac failure. The etiology of congenitally corrected transposition is currently unknown, and with an increase in incidence among families with previous cases of congenitally corrected transposition reported. Diagnosis can be made by fetal echocardiography, but is more commonly made postnatally with a combination of clinical signs and echocardiography. The anatomical delineation can be further assessed by magnetic resonance imaging and catheterization. The differential diagnosis is centred on the assessing if the patient is presenting with isolated malformations, or as part of a spectrum. Surgical management consists of repair of the associated malformations, or redirection of the systemic and pulmonary venous return associated with an arterial switch procedure, the so-called double switch approach. Prognosis is defined by the associated malformations, and on the timing and approach to palliative surgical care.

  19. Cost-effectiveness analysis of arthroscopic surgery compared with non-operative management for osteoarthritis of the knee

    Science.gov (United States)

    Marsh, Jacquelyn D; Birmingham, Trevor B; Giffin, J Robert; Isaranuwatchai, Wanrudee; Hoch, Jeffrey S; Feagan, Brian G; Litchfield, Robert; Willits, Kevin; Fowler, Peter

    2016-01-01

    Objective To determine the cost-effectiveness of arthroscopic surgery in addition to non-operative treatments compared with non-operative treatments alone in patients with knee osteoarthritis (OA). Design, setting and participants We conducted an economic evaluation alongside a single-centre, randomised trial among patients with symptomatic, radiographic knee OA (KL grade ≥2). Interventions Patients received arthroscopic debridement and partial resection of degenerative knee tissues in addition to optimised non-operative therapy, or optimised non-operative therapy only. Main outcome measures Direct and indirect costs were collected prospectively over the 2-year study period. The effectiveness outcomes were the Western Ontario McMaster Osteoarthritis Index (WOMAC) and quality-adjusted life years (QALYs). Cost-effectiveness was estimated using the net benefit regression framework considering a range of willingness-to-pay values from the Canadian public payer and societal perspectives. We calculated incremental cost-effectiveness ratios and conducted sensitivity analyses using the extremes of the 95% CIs surrounding mean differences in effect between groups. Results 168 patients were included. Patients allocated to arthroscopy received partial resection and debridement of degenerative meniscal tears (81%) and/or articular cartilage (97%). There were no significant differences between groups in use of non-operative treatments. The incremental net benefit was negative for all willingness-to-pay values. Uncertainty estimates suggest that even if willing to pay $400 000 to achieve a clinically important improvement in WOMAC score, or ≥$50 000 for an additional QALY, there is therapies only. Our sensitivity analysis suggests that even when assuming the largest treatment effect, the addition of arthroscopic surgery is not economically attractive compared with non-operative treatments only. Conclusions Arthroscopic debridement of degenerative articular cartilage and

  20. Congenital Pouch Colon

    Directory of Open Access Journals (Sweden)

    Vivek Gharpure

    2012-07-01

    Full Text Available Face The Examiner:QUESTIONS1. What are the diagnostic features of congenital pouch colon (CPC?Ans: A male patient with CPC often have a wide colovesical fistula and present with anorectal malformation and meconuria; on plain abdominal film, a single large bowel loop occupying more than 50% of the abdominal cavity is also a diagnostic sign. Girls (persistent cloaca/vestibular fistula/anteriorly placed anus etc. often present late with intractable constipation or multiple episodes of enterocolitis and persistent abdominal distension with common cloaca or anterior ectopic anus/ rectovestibular fistula. The congenital pouch colon can be identified as replacement of a part or entire colon in the configuration of pouch that lacks taenia coli, haustrations, appendices epiploicae, abnormal blood supply and a wide fistula with genitourinary system in a patient of anorectal malformation.

  1. Fetal congenital lobar emphysema.

    Science.gov (United States)

    Chia, Chun-Chieh; Huang, Soon-Cen; Liu, Min-Chang; Se, Tung-Yi

    2007-03-01

    To report a rare fetal congenital lung anomaly characterized by over inflation of a pulmonary lobe. A 28-year-old systemic lupus erythematous mother, gravida 1 para 0, who had normal prenatal care in our department, was admitted for labor pain and an abnormal fetal heart location was noted incidentally during labor. The baby showed rib retraction in room air but no obvious cyanotic change after delivery. Both the fetus chest X-ray and ultrasound showed a hyperechogenic tumor in the left thoracic cavity with a right-side-shifted heart and trachea. Computed tomography showed a hypodense and multiseptal tumor in the left thoracic cavity with right-sided shift of the heart and trachea. It was a soft, solid tumor in the parenchyma of the left lung and the histopathology confirmed it to be benign congenital lobar emphysema. The favorable outcome in both asymptomatic and mildly symptomatic children suggests that a nonsurgical approach should be considered for these patients.

  2. Congenital lipodystrophies and dyslipidemias.

    Science.gov (United States)

    Prieur, Xavier; Le May, Cedric; Magré, Jocelyne; Cariou, Bertrand

    2014-09-01

    Lipodystrophies are rare acquired and genetic disorders characterized by the selective loss of adipose tissue. One key metabolic feature of patients with congenital inherited lipodystrophy is hypertriglyceridemia. The precise mechanisms by which the lack of adipose tissue causes dyslipidemia remain largely unknown. In recent years, new insights have arisen from data obtained in vitro in adipocytes, yeast, drosophila, and very recently in several genetically modified mouse models of generalized lipodystrophy. A common metabolic pathway involving accelerated lipolysis and defective energy storage seems to contribute to the dyslipidemia associated with congenital generalized lipodystrophy syndromes, although the pathophysiological changes may vary with the nature of the mutation involved. Therapeutic management of dyslipidemia in patients with lipodystrophy is primarily based on specific approaches using recombinant leptin therapy. Preclinical studies suggest a potential efficacy of thiazolidinediones that remains to be assessed in dedicated clinical trials.

  3. Congenital intestinal lymphangiectasia

    Directory of Open Access Journals (Sweden)

    Popović Dušan Đ.

    2011-01-01

    Full Text Available Background. Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortous, dilated lymphatic vessels in the intestinal wall and mesenterium are typical features of the disease. Clinical manifestations include malabsorption, diarrhea, steatorrhea, edema and effusions. Specific diet and medication are required for disease control. Case report. A 19-year old male patient was hospitalized due to diarrhea, abdominal swelling, weariness and fatigue. Physical examination revealed growth impairment, ascites, and lymphedema of the right hand and forearm. Laboratory assessment indicated iron deficiency anaemia, lymphopenia, malabsorption, inflammatory syndrome, and urinary infection. Enteroscopy and video capsule endoscopy demonstrated dilated lymphatic vessels in the small intestine. The diagnosis was confirmed by intestinal biopsy. The patient was put on high-protein diet containing medium-chain fatty acids, somatotropin and suportive therapy. Conclusion. Congenital intestinal lymphangiectasia is a rare disease, usually diagnosed in childhood. Early recognition of the disease and adequate treatment can prevent development of various complications.

  4. Congenital hemifacial hyperplasia

    Directory of Open Access Journals (Sweden)

    S A Deshingkar

    2011-01-01

    Full Text Available Congenital hemifacial hyperplasia (CHH is a rare congenital malformation characterized by marked unilateral overdevelopment of hard and soft tissues of the face. Asymmetry in CHH is usually evident at birth and accentuated with age, especially at puberty. The affected side grows at a rate proportional to the nonaffected side so that the disproportion is maintained thr oughout the life. Multisystem involvement has resulted in etiological heterogeneity including heredity, chromosomal abnormalities, atypical forms of twinning, altered intrauterine environment, and endocrine dysfunctions; however, no single theory explains the etiology adequately. Deformities of all tissues of face, including teeth and their related tissues in the jaw, are key findings for correct diagnosis of CHH. Here an attempt has been made to present a case of CHH with its archetypal features and to supplement existing clinical knowledge.

  5. Congenital diaphramatic hernia

    Energy Technology Data Exchange (ETDEWEB)

    Kline-Fath, Beth M. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Fetal Care Center of Cincinnati, Cincinnati, OH (United States); Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States)

    2012-01-15

    Congenital diaphragmatic hernia, despite advances in therapy, remains a complex condition with significant morbidity and mortality. The etiology of the disorder is still incompletely understood, though the pulmonary hypoplasia and pulmonary hypertension that develop secondarily must be overcome to improve survival. Prenatal US and fetal MRI have helped in the development of a greater understanding of this disease. Also with these modalities, measurement techniques have been developed in an attempt to provide prognosticators for the development of pulmonary hypoplasia and pulmonary hypertension. There is a broad range of approaches for performing these measurements, and variability among imaging centers is noted. Despite inconsistent approaches, these techniques have become the foundation for counseling and prenatal and postnatal therapy. It is hoped that with further research with prenatal US and fetal MRI and the development of innovative medical and surgical therapies that the morbidity and mortality of children with congenital diaphragmatic hernias can be significantly reduced. (orig.)

  6. Congenital alopecia universalis

    Directory of Open Access Journals (Sweden)

    Vicente de Jesús Alvarez Yabor

    2015-11-01

    Full Text Available Congenital alopecia universalis is a type of infrequent recessive autosomal alopecia caused by genetic mutations; it is characterized by the total or localized absence of hair due to any birth disorder. This is a case of a 4-year-old female patient born with total absence of hair, both her scalp and whole body; she received medical treatment without satisfactory results. All the investigations were within normal limits, the differential diagnosis was ruled out through the analysis of family medical history and not showing alterations in bone or teeth structure, as well as normal sweating; the final diagnosis was confirmed through a scalp biopsy that revealed dermis with rudimentary sebaceous glands, immature and scarce hair follicles and corneous plugs compatible with congenital alopecia universalis without associated defects. The patient is treated and followed in dermatology and psychology consultations. The clinical situation has not been resolved to the moment.

  7. Congenital scoliosis - Quo vadis?

    Directory of Open Access Journals (Sweden)

    Debnath Ujjwal

    2010-01-01

    Full Text Available Congenital spinal vertebral anomalies can present as scoliosis or kyphosis or both. The worldwide prevalence of the vertebral anomalies is 0.5-1 per 1000 live births. Vertebral anomalies can range from hemi vertebrae (HV which may be single or multiple, vertebral bar with or without HV, block vertebrae, wedge shaped or butterfly vertebrae. Seventy per cent of congenital vertebral anomalies result in progressive deformities. The risk factors for progression include: type of defect, site of defect (junctional regions and patient′s age at the time of diagnosis. The key to success in managing these spinal deformities is early diagnosis and anticipation of progression. One must intervene surgically to halt the progression of deformity and prevent further complications associated with progressive deformity. Planning for surgery includes a preoperative MRI scan to rule out spinal anomalies such as diastematomyelia. The goals of surgical treatment for congenital spinal deformity are to achieve a straight growing spine, a normal standing sagittal profile, and a short fusion segment. The options of surgery include in situ fusion, convex hemi epiphysiodesis and hemi vertebra excision. These basic surgical procedures can be combined with curve correction, instrumentation and short segment fusion. Most surgeons prefer posterior (only surgery for uncomplicated HV excision and short segment fusion. These surgical procedures can be performed through posterior, anterior or combined approaches. The advocates of combined approaches suggest greater deformity correction possibilities with reduced incidence of pseudoarthrosis and minimize crankshaft phenomenon. We recommend posterior surgery for curves involving only an element of kyphosis or modest deformity, whereas combined anterior and posterior approach is indicated for large or lordotic deformities. In the last decade, the use of growing rods and vertebral expandable prosthetic titanium rib has improved the

  8. CONGENITAL ANTERIOR TIBIOFEMURAL SUBLUXATION

    Directory of Open Access Journals (Sweden)

    A. Shahla

    2008-06-01

    Full Text Available Congenital anterior tibiofemoral subluxation is an extremely rare disorder. All reported cases accompanied by other abnormalities and syndromes. A 16-year-old high school girl referred to us with bilateral anterior tibiofemoral subluxation as the knees were extended and reduced at more than 30 degrees flexion. Deformities were due to tightness of the iliotibial band and biceps femuris muscles and corrected by surgical release. Associated disorders included bilateral anterior shoulders dislocation, short metacarpals and metatarsals, and right calcaneuvalgus deformity.

  9. Ullrich Congenital Muscular Dystrophy

    OpenAIRE

    2011-01-01

    ObjectiveUllrich congenital muscular dystrophy is a rather severe type of congenitalmuscular dystrophy with early onset features related to motor development.In general it is inherited in autosomal recessive principles, however in theWestern world mostly seen with de novo dominant mutations in the collagenVI genes. Milder form of the condition is the Bethlem myopathy. There may beoverlap forms in the clinic resembling the Ehler-Danlos syndrome. There hasbeen some radical efforts for cure espe...

  10. Operative versus non-operative treatment in complex proximal humeral fractures: a meta-analysis of randomized controlled trials.

    Science.gov (United States)

    Xie, Lin; Ding, Fan; Zhao, Zhigang; Chen, Yan; Xing, Danmou

    2015-01-01

    Whether operative treatment for complex proximal humeral fractures (CPHFs) has a greater benefit over non-operative treatment remains controversial. There is no consensus on the optimal treatment in elderly patients with CPHFs. This updated meta-analysis of randomized controlled trials (RCTs) aims to investigate whether operative treatment is superior to non-operative treatment in CPHFs. The authors searched RCTs in the electronic databases (Cochrane Central Register of Controlled Trials, PubMed, EMBASE, Medline, Embase, Springer Link, Web of Knowledge, OVID and Google Scholar) from their establishment to July 2015. Researches on operative and non-operative treatment for CPHFs were selected in this meta-analysis. The quality of all studies was assessed and effective data was pooled for this meta-analysis. Outcome measurements were functional status include constant scores (CS scores) and disabilities of the arm, shoulder and hand scores (DASH scores), total complication rates and healthy-related quality of life. The meta-analysis was performed with software revman 5.3. Nine articles with a total 518 patients (average age 70.93) met inclusion criteria. Patients were followed up for at least 1 year in all the studies. No statistical differences were found between operative and non-operative treatment in CS scores at 12 mo (months) [MD 1.06 95 % CI (-3.51, 5.62)] and 24 mo [MD -0.61 95 % CI (-5.87, 4.65)]. There are also no statistical differences between operative and non-operative treatment in DASH scores at 12 mo [MD -4.51 95 % CI (-13.49, 4.47)] and 24 mo [MD -7.43 95 % CI (-16.14, 1.27)]. Statistical differences were found between operative and non-operative treatment in total complication rates [RR 1.55, 95 % CI (1.24, 1.94)]. Statistical differences in EQ-5D at 24 mo [MD 0.15, 95 % CI (0.05, 0.24)] were found between operative and non-operative treatment but no statistical differences were found in ED-5D at 12 mo [MD 0.08, 95 % CI (-0.01, 0.17)], 15D at

  11. Congenital syphilis, still a reality.

    Science.gov (United States)

    Gupta, Rajat; Vora, Rita V

    2013-01-01

    Congenital syphilis is a potentially serious pathology affecting newborns of infected mothers. Even one case of congenital syphilis is a sentinel public health event, since timely diagnosis and treatment of syphilis infected pregnant woman should prevent transmission almost entirely. Here, we are reporting a case of early symptomatic congenital syphilis presented with severe desquamating papulosquamous lesions over multiple body parts along with erosive lesions around oral cavity and nostrils.

  12. Congenital agenesis of seminal vesicle

    Institute of Scientific and Technical Information of China (English)

    Hong-Fei Wu; Di Qiao; Li-Xin Qian; Ning-Hong Song; Ning-Han Feng; Li-Xin Hua; Wei Zhang

    2005-01-01

    Congenital agenesis of the seminal vesicle (CASV) is frequently associated with congenital absence of the vas deferens (CAVD) or ipsilateral congenital vasoureteral communication. We reported two cases of a rare condition that the vas deferens open ectopically into Mullerian duct cyst associated with agenesis of the ipsilateral seminal vesicle. The diagnosis was confirmed by vasography. Transurethral unroofing of the Mullerian duct cyst was performed in both patients with favourable results, however, assisted reproductive technology (ART) was still necessary for them to father children.

  13. Recommendations for research studies on treatment of idiopathic scoliosis: Consensus 2014 between SOSORT and SRS non-operative management committee.

    Science.gov (United States)

    Negrini, Stefano; Hresko, Timothy M; O'Brien, Joseph P; Price, Nigel

    2015-01-01

    The two main societies clinically dealing with idiopathic scoliosis are the Scoliosis Research Society (SRS), founded in 1966, and the international Society on Scoliosis Orthopedic and Rehabilitation Treatment (SOSORT), started in 2004. Inside the SRS, the Non-Operative Management Committee (SRS-NOC) has the same clinical interest of SOSORT, that is the Orthopaedic and Rehabilitation (or Non-Operative, or conservative) Management of idiopathic scoliosis patients. The aim of this paper is to present the results of a Consensus among the best experts of non-operative treatment of Idiopathic Scoliosis, as represented by SOSORT and SRS, on the recommendation for research studies on treatment of Idiopathic Scoliosis. The goal of the consensus statement is to establish a framework for research with clearly delineated inclusion criteria, methodologies, and outcome measures so that future meta- analysis or comparative studies could occur. A Delphi method was used to generate a consensus to develop a set of recommendations for clinical studies on treatment of Idiopathic Scoliosis. It included the development of a reference scheme, which was judged during two Delphi Rounds; after this first phase, it was decided to develop the recommendations and 4 other Delphi Rounds followed. The process finished with a Consensus Meeting, that was held during the SOSORT Meeting in Wiesbaden, 8-10 May 2014, moderated by the Presidents of SOSORT (JP O'Brien) and SRS (SD Glassman) and by the Chairs of the involved Committees (SOSORT Consensus Committee: S Negrini; SRS Non-Operative Committee: MT Hresko). The Boards of the SRS and SOSORT formally accepted the final recommendations. The 18 Recommendations focused: Research needs (3), Clinically significant outcomes (4), Radiographic outcomes (3), Other key outcomes (Quality of Life, adherence to treatment) (2), Standardization of methods of non-operative research (6).

  14. Early detection of congenital syphilis

    Directory of Open Access Journals (Sweden)

    Nagalakshmi Chowdhary

    2014-01-01

    Full Text Available Late congenital syphilis is a very rare clinical entity, and its early diagnosis and treatment is essential. Dental findings often provide valuable evidence for the diagnosis of late congenital syphilis. It occurs due to the transmission of the disease from an infected mother to her fetus through placenta. This long forgotten disease continues to effect pregnant women resulting in perinatal morbidity and mortality. Congenital syphilis is a preventable disease, and its presence reflects a failure of prenatal care delivery system, as well as syphilis control programs. We are reporting a case of late congenital syphilis with only Hutchinson′s teeth.

  15. Genetics Home Reference: critical congenital heart disease

    Science.gov (United States)

    ... Health Conditions critical congenital heart disease critical congenital heart disease Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Critical congenital heart disease (CCHD) is a term that refers to a ...

  16. Genetics Home Reference: congenital diaphragmatic hernia

    Science.gov (United States)

    ... Home Health Conditions congenital diaphragmatic hernia congenital diaphragmatic hernia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Congenital diaphragmatic hernia is a defect in the diaphragm. The diaphragm, ...

  17. Molecular and Genetic Studies of Congenital Myopathies

    Science.gov (United States)

    2016-12-08

    Central Core Disease; Centronuclear Myopathy; Congenital Fiber Type Disproportion; Multiminicore Disease; Myotubular Myopathy; Nemaline Myopathy; Rigid Spine Muscular Dystrophy; Undefined Congenital Myopathy

  18. Prevalence of Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Akhavan Karbasi Sedighah

    2009-05-01

    Full Text Available Congenital malformation (CM will begin to emerge as one of the major childhood health problems .Treatment and rehabilitation of children with congenital malformations are costly and complete recovery is usually impossible. The aim of this study was to determine frequency of CM in Yazd central city of the Islamic Republic of Iran to find out if there has been any difference in the rate and types of CM in this area. This descriptive-observational study carried on 4800 births delivered at all maternity hospitals in Yazd from October 2003 to June 2004. Prevalence of CM was 2.83% (2.86 % in male and 2.68 % in female out of the 136 cases 69(51.88% were males and 64 (48.12% were females and 3 with ambiguous genitalia. Positive family history of CM in sibling was in only 6 cases (4.41%.Overall, musculoskeletal (0.83%, central nerv-ous system (0.47% and genital system (0.37% were accounted as the most common. Frequency of CM was more seen in still birth (12.5% as in comparison to live birth (2.71%. There was not statistical difference be-tween prevalence of CM and neonatal's gender, gestational age, birth order and mother's age, drug ingestion, illness and parental consanguinity. In this study the overall prevalence of congenital malformation among the newborn was higher than those previous reported in Iran and determining the causes of this difference needs more extensive studies.

  19. Congenital Diaphragmatic Hernia

    Directory of Open Access Journals (Sweden)

    Tovar Juan A

    2012-01-01

    Full Text Available Abstract Congenital Diaphragmatic Hernia (CDH is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. CDH can be a component of Pallister-Killian, Fryns, Ghersoni-Baruch, WAGR, Denys-Drash, Brachman-De Lange, Donnai-Barrow or Wolf-Hirschhorn syndromes. Some chromosomal anomalies involve CDH as well. The incidence is

  20. Congenital erythropoietic porphyria

    Directory of Open Access Journals (Sweden)

    Wen-Hao Lee

    2012-06-01

    Full Text Available Congenital erythropoietic porphyria (CEP, or “Günther disease”, is a rare variant of porphyria. It is an autosomal recessive disease caused by deficient uroporphyrinogen III synthase (URO-III-synthase, the fourth enzyme in the heme biosynthetic pathway. We herein report a case of a man with the typical clinical presentations of hyper- and hypo-pigmentation and blister formation over sun-exposed areas, mutilation of the fingers, dark-purple urine, and erythrodontia with pinkish fluorescence under a Wood’s lamp. The diagnosis was confirmed by decreased activity of URO-III-synthase in red blood cells (RBC and a porphyrin profile compatible with CEP.

  1. Surgery for Congenital Cataract

    Directory of Open Access Journals (Sweden)

    David Yorston FRCS FRCOphth

    2004-01-01

    Full Text Available The management of congenital cataract is very different to the treatment of a routine age-related cataract. In adults, surgery may be delayed for years without affecting the visual outcome. In infants, if the cataract is not removed during the first year of life, the vision will never be fully regained after surgery. In adults, if the aphakia is not corrected immediately, it can be corrected later. In young children, if the aphakia is not corrected, the vision will never develop normally.

  2. Congenital familial hypertonia.

    Science.gov (United States)

    DeLuca, Carl F; Cashore, William J

    2002-09-01

    1. This complex of symptoms appears to be congenital, familial, and hereditary. It is apparently transmitted by a dominant gene, probably on chromosome 5. 2. Hypertonicity with rigidity of all voluntary muscles usually presents at birth. 3. Feeding problems are due to dysphagia or laryngospasm associated with aspiration and dyspnea. 4. Respiratory problems are characterized by apneic episodes due to muscle spasm. 5. Prolonged episodes of muscular rigidity secondary to sudden stimuli result in frequent falls, characteristically en bloc, like a statue. 6. Continuous electromyographic activity even at rest (with absence of fasciculations) improves after intravenous diazepam.

  3. Systemic congenital lymphangiomatosis

    Directory of Open Access Journals (Sweden)

    Ligia Maria Suppo de Souza

    Full Text Available Systemic lymphangiomatosis is a rare disease characterized by the exageration of lymphatic channel proliferation, occurring in children and young adults. We describe an extremely rare case of congenital systemic lymphangiomatosis in a newborn who had ascitis and respiratory failure develop immediately after delivery. Death occurred during the first hour of life. Autopsy findings showed numerous cysts in soft tissues of the cervical area, mediastinum and diaphragm, and several other organs including the liver, spleen, thyroid and kidneys. The severe and diffuse involvement with cysts in both lungs by lymphangiomatosis was associated with poor prognosis and death in our case.

  4. Nonclassic Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    Selma Feldman Witchel

    2010-01-01

    Full Text Available Nonclassic congenital adrenal hyperplasia (NCAH due to P450c21 (21-hydroxylase deficiency is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias favoring diagnosis in females. Treatment goals include normal linear growth velocity and “on-time” puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and fertility. This paper will review key aspects regarding pathophysiology, diagnosis, and treatment of NCAH.

  5. Congenital acute megakaryocytic leukemia

    Directory of Open Access Journals (Sweden)

    N B Mathur

    2011-01-01

    Full Text Available Congenital leukemia (CL is an extremely rare disorder in the newborn, significant proportion of which is of myeloid origin, primarily of M4 or M5 morphology. As compared to pediatric leukemia, CL is a more aggressive disease. Acute myeloid leukemia (AML-M7 or acute megakaryocytic leukemia is a rare type of AML with an incidence of 0.5 per million per year. Median age of presentation is 6 years, and children may present with a broad variety of symptoms including low-grade fever, diarrhea, easy bruising, failure to gain weight and life-threatening conditions.

  6. Congenital granular cell epulis.

    Science.gov (United States)

    Conrad, Rachel; Perez, Mia C N

    2014-01-01

    Congenital granular cell epulis is a rarely reported lesion of unknown histogenesis with a strong predilection for the maxillary alveolar ridge of newborn girls. Microscopically, it demonstrates nests of polygonal cells with granular cytoplasm, a prominent capillary network, and attenuated overlying squamous epithelium. The lesion lacks immunoreactivity for S-100, laminin, chromogranin, and most other markers except neuron-specific enolase and vimentin. Through careful observation of its unique clinical, histopathologic, and immunohistochemical features, this lesion can be distinguished from the more common adult granular cell tumor as well as other differential diagnoses.

  7. Congenital nystagmus and negative electroretinography

    Directory of Open Access Journals (Sweden)

    Roussi M

    2011-04-01

    Full Text Available Mirella Roussi, Hélène Dalens, Jean Jacques Marcellier, Franck BacinDepartment of Ophthalmology, Clermont-Ferrand University, Clermont-Ferrand, FranceAbstract: Congenital nystagmus is a pathologic oculomotor state appearing at about three to four months of age. The precise diagnosis requires detailed clinical examination and electrophysiological findings. This case report presents two male patients with congenital nystagmus examined longitudinally from the age of six months until 17-18 years of age. Clinical and electrophysiological protocols were detailed. The first results showed electronegative electroretinography in the two cases and examination combined with electroretinographic findings helped us to make the diagnosis of Congenital Night Stationary Blindness (CSNB. This diagnosis was confirmed by genetic studies. CSNB is interesting to study because through electrophysiological findings, it enables a better understanding of the physiology of neural transmission in the outer part of the retina.Keywords: Congenital nystagmus, negative electroretinography, congenital night stationary blindness

  8. Non-operative treatment for perforated gastro-duodenal peptic ulcer in Duchenne Muscular Dystrophy: a case report

    Directory of Open Access Journals (Sweden)

    Wever Jan

    2004-01-01

    Full Text Available Abstract Background Clinical characteristics and complications of Duchenne muscular dystrophy caused by skeletal and cardiac muscle degeneration are well known. Gastro-intestinal involvement has also been recognised in these patients. However an acute perforated gastro-duodenal peptic ulcer has not been documented up to now. Case presentation A 26-year-old male with Duchenne muscular dystrophy with a clinical and radiographic diagnosis of acute perforated gastro-duodenal peptic ulcer is treated non-operatively with naso-gastric suction and intravenous medication. Gastrointestinal involvement in Duchenne muscular dystrophy and therapeutic considerations in a high risk patient are discussed. Conclusion Non-surgical treatment for perforated gastro-duodenal peptic ulcer should be considered in high risk patients, as is the case in patients with Duchenne muscular dystrophy. Patients must be carefully observed and operated on if non-operative treatment is unsuccessful.

  9. Non-operative treatment of a fracture to the coracoid process with acromioclavicular dislocation in an adolescent

    Directory of Open Access Journals (Sweden)

    Vera Pedersen

    2014-08-01

    Full Text Available Coracoid process fractures are rare and often associated with dislocations of the acromioclavicular (AC joint. There is little evidence about the treatment of these injuries in adolescents, but the few case reports published recommend surgery. We report a case of a dislocated epiphyseal fracture to the base of the coracoid process with AC joint dislocation in a 14-year-old ice-hockey player following direct impact to his left shoulder. Since magnetic resonance tomography revealed intact AC and coracoclavicular ligaments, we initiated non-operative treatment with immobilization and unloading of the shoulder by an abduction brace allowing limited rotation for 6 weeks. This treatment resulted in complete recovery after 8 weeks and return to full sports on first league level after 3 month. In conclusion, non-operative treatment of coracoid base fractures with concomitant AC-joint injury in the adolescent can result in excellent functional results and early recovery.

  10. Congenital peritoneal encapsulation

    Institute of Scientific and Technical Information of China (English)

    Diana; Teixeira; Vítor; Costa; Paula; Costa; Carlos; Alpoim; Pinto; Correia

    2015-01-01

    Peritoneal encapsulation(PE) is a rare congenital malformation, characterized by a thin accessory peritoneal membrane which covers all or part of the small bowel, forming an accessory peritoneal sac. Most cases areasymptomatic and diagnosed incidentally during surgery and/or autopsy. Clinical presentation with intestinal obstruction is extremely rare and we report a case. A 25-year-old male, referred to emergency department with diffuse abdominal pain, crampy, with 8 h evolution, associated with nausea, vomiting and constipation in the last 48 h. The abdominal examination revealed an asymmetric and fixed distension, with hard consistency on palpation of lower abdominal quadrants. The abdominal radiography reveals a small bowel distension and fluid levels. Submitted to laparoscopic surgery that recourse to conversion because there is a total peritoneal encapsulation of the small bowel. After opening the peritoneal sac, we find a rotation of mesentery, at its root, conditioning twisting of small bowel and consequently occlusion. Uneventful postoperative with discharged at the 6th day. The PE is a very rare congenital anomaly characterized by abnormal bowel back into the abdominal cavity in the early stages of development. Your knowledge becomes important because, although rare, it might be diagnosis in patients with intestinal obstruction, in the absence of other etiologic factors.

  11. Congenital extrahepatic portosystemic shunts

    Energy Technology Data Exchange (ETDEWEB)

    Murray, Conor P.; Yoo, Shi-Joon; Babyn, Paul S. [Department of Diagnostic Imaging, Hospital for Sick Children, 555 University Avenue, M5G 1X8, Toronto, Ontario (Canada)

    2003-09-01

    A congenital extrahepatic portosystemic shunt (CEPS) is uncommon. A type 1 CEPS exists where there is absence of intrahepatic portal venous supply and a type 2 CEPS where this supply is preserved. The diagnosis of congenital portosystemic shunt is important because it may cause hepatic encephalopathy. To describe the clinical and imaging features of three children with CEPS and to review the cases in the published literature. The diagnostic imaging and medical records for three children with CEPS were retrieved and evaluated. An extensive literature search was performed. Including our cases, there are 61 reported cases of CEPS, 39 type 1 and 22 type 2. Type 1 occurs predominantly in females, while type 2 shows no significant sexual preponderance. The age at diagnosis ranges from 31 weeks of intrauterine life to 76 years. Both types of CEPS have a number of associations, the most common being nodular lesions of the liver (n=25), cardiac anomalies (n=19), portosystemic encephalopathy (n=10), polysplenia (n=9), biliary atresia (n=7), skeletal anomalies (n=5), and renal tract anomalies (n=4). MRI is recommended as an important means of diagnosing and classifying cases of CEPS and examining the associated cardiovascular and hepatic abnormalities. Screening for CEPS in patients born with polysplenia is suggested. (orig.)

  12. [Genetics of congenital deafness].

    Science.gov (United States)

    Faundes, Víctor; Pardo, Rosa Andrea; Castillo Taucher, Silvia

    2012-10-20

    Congenital deafness is defined as the hearing loss which is present at birth and, consequently, before speech development. It is the most prevalent sensor neural disorder in developed countries, and its incidence is estimated between 1-3 children per 1,000 newborns, of which more than 50% are attributable to genetics causes. Deafness can be classified as syndromic or non-syndromic. In the first case, it is associated with outer ear malformations and/or systemic findings. More than 400 syndromes accompanied of deafness have been described, which represent about 30% of cases of congenital hearing loss. The remaining percentage corresponds to non-syndromic cases: 75-85% are autosomal recessive, 15-24% are autosomal dominant, and 1-2% are X-linked. The evaluation of a child with deafness requires a multidisciplinary collaboration among specialists, who must coordinate themselves and give information to the affected family. The aims of establishing a diagnosis are to predict other manifestations that may suggest some syndrome and to anticipate their management, as well as to perform genetic counseling to parents and affected individuals.

  13. Congenital nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Claudia Fanni

    2014-06-01

    Full Text Available CNS (Congenital nephrotic syndrome is a disorder characterized by the presence of a nephrotic syndrome in the first three months of life. Different pathologies can cause this syndrome. In general, we can distinguish primary forms (sporadic and hereditary and secondary forms (acquired and associated with other syndromes. The most common form is the Finnish CNS (CNF, congenital nephrotic syndrome of the Finnish type, a hereditary form whose name derives from the fact that the highest incidence is described in that country (1.2:10,000. The pathogenesis, the clinical picture, the diagnostic criteria, the therapy and the outcome are described in details.  Proceedings of the International Course on Perinatal Pathology (part of the 10th International Workshop on Neonatology · October 22nd-25th, 2014 · Cagliari (Italy · October 25th, 2014 · The role of the clinical pathological dialogue in problem solving Guest Editors: Gavino Faa, Vassilios Fanos, Peter Van Eyken

  14. Congenital hypothyroidism: current perspectives

    Directory of Open Access Journals (Sweden)

    Dayal D

    2015-07-01

    Full Text Available Devi Dayal, Rajendra Prasad Department of Pediatrics, Pediatric Endocrinology and Diabetes Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India Abstract: Congenital hypothyroidism (CH, the most common pediatric endocrine disorder with an estimated prevalence of 1:2,000 to 1:4,000, is an under-recognized problem in countries without routine newborn screening (NBS programs. Thyroid dysgenesis (TD is the most common cause of primary CH accounting for approximately 85% of all cases; most of the remaining patients have dyshormonogenesis. Transient CH and CH with eutopic gland, are increasingly being identified after introduction of routine NBS. The clinical features of CH are often subtle resulting in delayed diagnosis and eventually poor intellectual outcome. In developed countries, detection by NBS and early initiation of treatment has largely eliminated the intellectual disability caused by this disorder. The lower screening thyroid stimulating hormone (TSH cutoff and changes in birth demographics in some countries have been associated with an increase in the reported incidence of CH. However, the additional cases detected by the lower TSH cutoff tend to have either milder or transient hypothyroidism. Diagnosis of CH is made on the basis of serum concentrations of TSH and thyroxine (T4. Thyroid ultrasound, radionuclide scintigraphy, serum thyroglobulin (TG levels and specific genetic tests help ascertaining the exact etiological diagnosis. Non-availability of later tests should not deter the pediatrician from initiation of treatment. Age at initiation of treatment and starting dose of levothyroxine are critical factors that determine the long-term outcome. Higher doses of levothyroxine at 10–15 µg/kg/day are required in infants, with titration based on T4 and TSH levels, which are repeated frequently. Coexistence of other congenital anomalies in children with CH adds to the morbidity. Approximately 70% of babies

  15. Congenital Goitre in Goats

    Directory of Open Access Journals (Sweden)

    A. H. Cheema, A. Shakoor and A. H. Shahzad

    2010-01-01

    Full Text Available One full-term, dead foetus was successfully removed from a 5-year old, crossbred black and white goat. The goat was stall-fed with green fodder and it delivered two dead foetuses in the previous pregnancy. The foetus had a large swelling in the cranio-ventral neck region. Upon cutting skin, the swelling revealed extremely enlarged thyroid gland having two asymmetrical lobes with the right lobe was 8.10 x 15.0 cm and the left 5.5 x 8.6 cm in size. The skin was devoid of hair, pale-white and thickened with myxedema. Histologically, the enlarged thyroid consisted of colloid goitre and the lungs were oedematous. This case of congenital goitre was unusual and differed from the reported cases in two aspects viz 1 the two lobes were enlarged but unequal and 2 histologically goitre was colloid instead of usual hyperplastic type.

  16. Congenital pyriform aperture stenosis

    Energy Technology Data Exchange (ETDEWEB)

    Osovsky, Micky [Schneider Pediatric Hospital, Department of Neonatology, Petach Tikvah (Israel); Rabin Medical Center, Department of Neonatology, Schneider Children' s Medical Center of Israel, Beilinson Campus, Petah Tikvah (Israel); Aizer-Danon, Anat; Horev, Gadi [Schneider Pediatric Hospital, Department of Pediatric Radiology, Petach Tikvah (Israel); Sirota, Lea [Schneider Pediatric Hospital, Department of Neonatology, Petach Tikvah (Israel)

    2007-01-15

    Nasal airway obstruction is a potentially life-threatening condition in the newborn. Neonates are obligatory nasal breathers. The pyriform aperture is the narrowest, most anterior bony portion of the nasal airway, and a decrease in its cross-sectional area will significantly increase nasal airway resistance. Congenital nasal pyriform aperture stenosis (CNPAS) is a rare, unusual form of nasal obstruction. It should be considered in the differential diagnosis of any neonate or infant with signs and symptoms of upper airway compromise. It is important to differentiate this level of obstruction from the more common posterior choanal stenosis or atresia. CNPAS presents with symptoms of nasal airway obstruction, which are often characterized by episodic apnea and cyclical cyanosis. (orig.)

  17. Characterizing congenital amusia.

    Science.gov (United States)

    Stewart, Lauren

    2011-04-01

    The ability to make sense of the music in our environment involves sophisticated cognitive mechanisms that, for most people, are acquired effortlessly and in early life. A special population of individuals, with a disorder termed congenital amusia, report lifelong difficulties in this regard. Exploring the nature of this developmental disorder provides a window onto the cognitive architecture of typical musical processing, as well as allowing a study of the relationship between processing of music and other domains, such as language. The present article considers findings concerning pitch discrimination, pitch memory, contour processing, experiential aspects of music listening in amusia, and emerging evidence concerning the neurobiology of the disorder. A simplified model of melodic processing is outlined, and possible loci of the cognitive deficit are discussed.

  18. Congenital hypothyroidism: Screening dilemma

    Directory of Open Access Journals (Sweden)

    Meena P Desai

    2012-01-01

    Full Text Available Primary sporadic congenital hypothyroidism (CH is the most common cause of hypothyroidism infancy early childhood in iodine sufficient region. Screening for neonatal CH began in 1970s. The rationale and reason for neonatal screening for CH (NSCH are well established. It is mandatory in most developed countries along with the screen for metabolic disorder. The possibility of measuring TSH and thyroid hormones in cord blood paved the way for newborn screening (NS for CH. Worldwide it is estimated that 25% of the live born population of 130 million babies undergo NSCH. Klein et al., by 1972 had shown improved CNS prognosis in CH treated by age 3 months. NSCH has largely eradicated the severe irreversible neurodevelopmental damage and reversed the chances of growth failure in infancy and early childhood.

  19. Congenital heart defects and medical imaging.

    Science.gov (United States)

    Gehin, Connie; Ragsdale, Lisa

    2013-01-01

    Radiologic technologists perform imaging studies that are useful in the diagnosis of congenital heart defects in infants and adults. These studies also help to monitor congenital heart defect repairs in adults. This article describes the development and functional anatomy of the heart, along with the epidemiology and anatomy of congenital heart defects. It also discusses the increasing population of adults who have congenital heart defects and the most effective modalities for diagnosing, evaluating, and monitoring congenital heart defects.

  20. Types of Congenital Heart Defects

    Science.gov (United States)

    ... heart develops. Examples of Simple Congenital Heart Defects Holes in the Heart (Septal Defects) The septum is ... Google+ SITE INDEX ACCESSIBILITY PRIVACY STATEMENT FOIA NO FEAR ACT OIG CONTACT US National Institutes of Health ...

  1. CONGENITAL QUADRICUSPID AORTIC-VALVE

    NARCIS (Netherlands)

    BROUWER, MHJ; DEGRAAF, JJ; EBELS, T

    1993-01-01

    Two patients with a quadricuspid aortic valve are described, one of them with concomitant juxtaposed coronary orifices facing the right hand facing sinus. The etiology and incidence of this congenital anomaly will be discussed.

  2. [Congenital Adrenal Hyperplasia in Adults].

    Science.gov (United States)

    Vrbíková, Jana

    2016-01-01

    Congenital adrenal hyperplasia is a life-long disease requiring an integrated therapy. It may negatively influence the quality of life. In childhood, the main problems of the care of these patients involve sex determination and ensuring optimum growth and puberty. The therapeutic goals for adults are the prevention of Addisonian crisis and ensuring the best possible quality of life, including fertility.Key words: androgens - cardiovascular risk - congenital adrenal hyperplasia - bone density - testicular rest tumors.

  3. [Congenital galactosaemia: an unusual presentation].

    Science.gov (United States)

    Marcoux, M O; Laporte-Turpin, E; Alberge, C; Fournie-Gardini, E; Castex, M P; Rolland, M; Brivet, M; Broue, P

    2005-02-01

    Congenital galactosaemia reveals usually in the second and third weeks of life with a severe liver dysfunction. We report on a case of congenital galactosaemia with, on the one hand, an early onset liver failure, without any free interval, and on the other hand, an hemophagocytic syndrome as a severe secondary outbreak with pulmonary haemorrhage. Appropriate diet led to normalisation of liver function. Hemophagocytosis, probably linked to an associated Klebsiella Pneumoniae sepsis, had a favourable outcome after antibiotic and corticosteroid therapy.

  4. The long-term outcome of patients treated operatively and non-operatively for scoliosis deformity secondary to spina bifida.

    Science.gov (United States)

    Khoshbin, A; Vivas, L; Law, P W; Stephens, D; Davis, A M; Howard, A; Jarvis, J G; Wright, J G

    2014-09-01

    The purpose of this study was to evaluate the long-term outcome of adults with spina bifida cystica (SBC) who had been treated either operatively or non-operatively for scoliosis during childhood. We reviewed 45 patients with a SBC scoliosis (Cobb angle ≥ 50º) who had been treated at one of two children's hospitals between 1991 and 2007. Of these, 34 (75.6%) had been treated operatively and 11 (24.4%) non-operatively. After a mean follow-up of 14.1 years (standard deviation (sd) 4.3) clinical, radiological and health-related quality of life (HRQOL) outcomes were evaluated using the Spina Bifida Spine Questionnaire (SBSQ) and the 36-Item Short Form Health Survey (SF-36). Although patients in the two groups were demographically similar, those who had undergone surgery had a larger mean Cobb angle (88.0º (sd 20.5; 50.0 to 122.0) ; : versus 65.7º (sd 22.0; 51.0 to 115.0); p < 0.01) and a larger mean clavicle-rib intersection difference (12.3 mm; (sd 8.5; 1 to 37); versus 4.1 mm, (sd 5.9; 0 to 16); p = 0.01) than those treated non-operatively. Both groups were statistically similar at follow-up with respect to walking capacity, neurological motor level, sitting balance and health-related quality of life (HRQOL) outcomes. Spinal fusion in SBC scoliosis corrects coronal deformity and stops progression of the curve but has no clear effect on HRQOL. ©2014 The British Editorial Society of Bone & Joint Surgery.

  5. Congenital and perinatal cytomegalovirus infection

    Directory of Open Access Journals (Sweden)

    Chun Soo Kim

    2010-01-01

    Full Text Available Cytomegalovirus (CMV is currently the most common agent of congenital infection and the leading infectious cause of brain damage and hearing loss in children. Symptomatic congenital CMV infections usually result from maternal primary infection during early pregnancy. One half of symptomatic infants have cytomegalic inclusion disease (CID, which is characterized by involvement of multiple organs, in particular, the reticuloendothelial and central nervous system (CNS. Moreover, such involvement may or may not include ocular and auditory damage. Approximately 90% of infants with congenital infection are asymptomatic at birth. Preterm infants with perinatal CMV infection can have symptomatic diseases such as pneumonia, hepatitis, and thrombocytopenia. Microcephaly and abnormal neuroradiologic imaging are associated with a poor prognosis. Hearing loss may occur in both symptomatic and asymptomatic infants with congenital infection and may progress through childhood. Congenital infection is defined by the isolation of CMV from infants within the first 3 weeks of life. Ganciclovir therapy can be considered for infants with symptomatic congenital CMV infection involving the CNS. Pregnant women of seronegative state should be counseled on the importance of good hand washing and other control measures to prevent CMV infection. Heat treatment of infected breast milk at 72?#608;for 5 seconds can eliminate CMV completely.

  6. Congenital bronchoesophageal fistula in adults

    Institute of Scientific and Technical Information of China (English)

    Bao-Shi Zhang; Nai-Kang Zhou; Chang-Hai Yu

    2011-01-01

    AIM: To study the clinical characteristics, diagnosis and surgical treatment of congenital bronchoesophageal fistulae in adults. METHODS: Eleven adult cases of congenital bronchoesophageal fistula diagnosed and treated in our hospital between May 1990 and August 2010 were reviewed. Its clinical presentations, diagnostic methods, anatomic type, treatment, and follow-up were recorded. RESULTS: Of the chief clinical presentations, nonspecific cough and sputum were found in 10 (90.9%), recurrent bouts of cough after drinking liquid food in 6 (54.6%), hemoptysis in 6 (54.6%), low fever in 4 (36.4%), and chest pain in 3 (27.3%) of the 11 cases, respectively. The duration of symptoms before diagnosis ranged 5-36.5 years. The diagnosis of congenital bronchoesophageal fistulae was established in 9 patients by barium esophagography, in 1 patient by esophagoscopy and in 1 patient by bronchoscopy, respectively. The congenital bronchoesophageal fistulae communicated with a segmental bronchus, a main bronchus, and an intermediate bronchus in 8, 2 and 1 patients, respectively. The treatment of congenital bronchoesophageal fistulae involved excision of the fistula in 10 patients or division and suturing in 1 patient. The associated lung lesion was removed in all patients. No long-term sequelae were found during the postoperative follow-up except in 1 patient with bronchial fistula who accepted reoperation before recovery. CONCLUSION: Congenital bronchoesophageal fistula is rare in adults. Its most useful diagnostic method is esophagography. It must be treated surgically as soon as the diagnosis is established.

  7. Endoscopic treatment of choledochal cyst type III Tratamento endoscópico de cisto de colédoco do tipo III

    Directory of Open Access Journals (Sweden)

    Matheus Alessi Rodrigues

    2008-09-01

    Full Text Available BACKGROUND: Todani type III cysts are not very common disease. Endoscopically the choledochocele is not a challenging diagnosis. Sometimes biliary stone disease is associated and events of cholangitis and pancreatitis may occur. Normally these patients are referred for surgical treatment, mainly because there is a widespread concept that choledocal cysts are very prone to develop neoplasia and must be resected. Nevertheless surgical resection is not free of morbidity. The chance for neoplasia in such cases seems to be related to the presence of pancreaticobiliary reflux towards the common bile duct. AIM: To report a case of endoscopic treatment of choledochal cyst type III with literature review. CASE REPORT: Young man with recurrent abdominal pain, fever and hyperamylasemia. An ERCP showed pancreaticobiliary maljunction and calculus impaction. Papillotomy was performed and complete biliary clearance was achieved. Amylase contents in the common bile duct was measured and normal. Due to absence of pancreatiobiliary reflux, a second endoscopic approach was performed and a wide communication between choledochocele and duodenum was done with diathermy (using the papillotome. The patient recovering was uneventful and in 30 months follow-up he remains asymptomatic. CONCLUSION: Since pancreatobiliary reflux is not present, surgical approach of the diverticulum seemed to be not necessary. Endoscopic drainage of choledococele was a good option for conservative treatment.INTRODUÇÃO: Cisto de colédoco do tipo III de Todani não é doença muito comum. Eventualmente pode ocorrer a presença de doença biliar calculosa, que nestes casos estaria associada a eventos de colangite e pancreatite. Normalmente estes pacientes são conduzidos ao tratamento cirúrgico, principalmente porque há conceito difundido de que os cistos de colédoco são muito propensos a desenvolver neoplasia e que a sua presença indicaria ressecção cirúrgica. A chance para

  8. The incidence of portal hypertension in children with choledochal cyst and the correlation of nitric oxide levels in the peripheral blood with portal pressure and liver histology

    Science.gov (United States)

    Chand, Karunesh; Bhatnagar, Veereshwar; Agarwala, Sandeep; Srinivas, Maddur; Das, Nibhriti; Singh, Manoj Kumar; Sharma, Raju

    2015-01-01

    Background and Aims: Symptomatic portal hypertension (PHT) as a complication of the choledochal cyst (CDC) is well-known, but the actual incidence of PHT in CDC has not been studied. This study was undertaken to evaluate the incidence of PHT in patients of CDC and correlate portal pressure (PP) with liver histology and blood nitric oxide (NO) levels. Materials and Methods: In this cross-sectional study, PP was measured after surgical access but before any mobilization of the cyst by directly cannulating a tributary of portal vein (preoperative PP) and at completion of surgery before closure (postoperative PP). Blood sample for NO and liver function tests (LFTs) was taken before surgery and during subsequent follow-up at 1-month, 3 months, and 6 months. Liver histology was assessed under parenchymal, bile duct, and portal parameters. Results: Measurement of PP and blood levels of NO was done in 20 patients. Mean preoperative PP was 16.45 ± 7.85 mmHg, and the median pressure was 14 mmHg (range 9-43). Mean of the postoperative PP was 14 ± 6.87 mmHg, and median pressure was 11.5 mmHg (range 7-37). The mean level of NO in the preoperative period was 11.85 ± 4.33 μmol/l, and median was 11.605 (range 5.24-22.77) μmol/l. NO levels at the first follow-up (1-month postoperative) were 5.96 ± 4.56 μmol/l and median value of 4.9 (range 1.74-23.56) μmol/l. Likewise, the mean and median values of NO at 3 months were 5.59 ± 7.15 μmol/l and median value of 3.71 (range 1.49-34.74) μmol/l. The mean and median levels of NO at 6 months postoperative were 5.08 ± 2.22 μmol/l and median of 4.59 (range 2.32-12.46) μmol/l. The fall in PP immediately after surgery was consistent and statistically significant (P = 0.001). There was statistically significant fall in the NO levels in the postoperative period as compared to the preoperative levels (P = 0.002). Bile duct proliferation was significantly correlated with PP (P = 0.05). Blood levels of NO closely followed the PP in the

  9. Congenital Diaphragmatic Hernia

    Science.gov (United States)

    2012-01-01

    Congenital Diaphragmatic Hernia (CDH) is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. CDH can be a component of Pallister-Killian, Fryns, Ghersoni-Baruch, WAGR, Denys-Drash, Brachman-De Lange, Donnai-Barrow or Wolf-Hirschhorn syndromes. Some chromosomal anomalies involve CDH as well. The incidence is < 5 in 10,000 live-births. The etiology is unknown although clinical, genetic and experimental evidence points to disturbances in the retinoid-signaling pathway during organogenesis. Antenatal diagnosis is often made and this allows prenatal management (open correction of the hernia in the past and reversible fetoscopic tracheal obstruction nowadays) that may be indicated in cases with severe lung hypoplasia and grim prognosis. Treatment after birth requires all the refinements of critical care including extracorporeal membrane oxygenation prior to surgical correction. The best hospital series report 80% survival but it remains around 50% in population-based studies. Chronic respiratory tract disease, neurodevelopmental problems, neurosensorial hearing loss and gastroesophageal reflux are common problems in survivors. Much more research on several aspects of this severe condition is warranted. PMID:22214468

  10. Congenital parotid fistula

    Directory of Open Access Journals (Sweden)

    Shiggaon Natasha

    2014-01-01

    Full Text Available Parotid fistula is a cause of great distress and embarrassment to the patient. Parotid fistula is most commonly a post-traumatic situation. Congenital parotid salivary fistulas are unusual entities that can arise from accessory parotid glands or even more infrequently, from normal parotid glands through an aberrant Stensen′s duct. The treatment of fistulous tract is usually surgical and can be successfully excised after making a skin incision along the skin tension line around the fistula opening. This report describes a case of right accessory parotid gland fistula of a 4-year-old boy with discharge of pus from right cheek. Computed tomography (CT fistulography and CT sialography demonstrated fistulous tract arising from accessory parotid gland. Both CT fistulography and CT sialography are very helpful in the diagnosis and surgical planning. In this case, superficial parotidectomy is the treatment of choice. A detailed history, clinical and functional examination, proper salivary gland investigations facilitates in correct diagnosis followed by immediate surgical intervention helps us to restore physical, psychological health of the child patient.

  11. Congenital hypothyroidism in neonates

    Directory of Open Access Journals (Sweden)

    Aneela Anjum

    2014-01-01

    Full Text Available Context: Congenital hypothyroidism (CH is one of the most common preventable causes of mental retardation in children and it occurs in approximately 1:2,000-1:4,000 newborns. Aims and Objectives: The aim of this study is to determine the frequency of CH in neonates. Settings and Design: This cross-sectional study was conducted in neonatal units of the Department of Pediatrics Unit-I, King Edward Medical University/Mayo Hospital, Lahore and Lady Willington Hospital Lahore in 6 months (January-June 2011. Materials and Methods: Sample was collected by non-probability purposive sampling. After consent, 550 newborn were registered for the study. Demographic data and relevant history was recorded. After aseptic measures, 2-3 ml venous blood analyzed for thyroid-stimulating hormone (TSH level by immunoradiometric assay. Treatment was started according to the individual merit as per protocol. Statistical Analysis Used: Data was analyzed by SPSS 17 and Chi-square test was applied to find out the association of CH with different variables. Results: The study population consisted of 550 newborns. Among 550 newborns, 4 (0.8% newborns had elevated TSH level. CH had statistically significant association with mother′s hypothyroidism (P value 0.000 and mother′s drug intake during the pregnancy period (P value 0.013. Conclusion: CH is 0.8% in neonates. It has statistically significant association with mother′s hypothyroidism and mother′s drug intake during pregnancy.

  12. Congenital hyperthyroidism: autopsy report

    Directory of Open Access Journals (Sweden)

    Lima Marcus Aurelho de

    1999-01-01

    Full Text Available We report the autopsy of a stillborn fetus with congenital hyperthyroidism born to a mother with untreated Graves' disease, whose cause of death was congestive heart failure. The major findings concerned the skull, thyroid, heart, and placenta. The cranial sutures were closed, with overlapping skull bones. The thyroid was increased in volume and had intense blood congestion. Histological examination showed hyperactive follicles. The heart was enlarged and softened, with dilated cavities and hemorrhagic suffusions in the epicardium. The placenta had infarctions that involved at least 20% of its surface, and the vessels of the umbilical cord were fully exposed due to a decrease in Wharton 's jelly. Hyperthyroidism was confirmed by the maternal clinical data, the fetal findings of exophthalmia, craniosynostosis, and goiter with signs of follicular hyperactivity. Craniosynostosis is caused by the anabolic action of thyroid hormones in bone formation during the initial stages of development. The delayed initiation of treatment in the present case contributed to the severity of fetal hyperthyroidism and consequent fetal death.

  13. Congenital pulmonary lymphangiectasia

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    Campisi Corradino

    2006-10-01

    Full Text Available Abstract Congenital pulmonary lymphangiectasia (PL is a rare developmental disorder involving the lung, and characterized by pulmonary subpleural, interlobar, perivascular and peribronchial lymphatic dilatation. The prevalence is unknown. PL presents at birth with severe respiratory distress, tachypnea and cyanosis, with a very high mortality rate at or within a few hours of birth. Most reported cases are sporadic and the etiology is not completely understood. It has been suggested that PL lymphatic channels of the fetal lung do not undergo the normal regression process at 20 weeks of gestation. Secondary PL may be caused by a cardiac lesion. The diagnostic approach includes complete family and obstetric history, conventional radiologic studies, ultrasound and magnetic resonance studies, lymphoscintigraphy, lung functionality tests, lung biopsy, bronchoscopy, and pleural effusion examination. During the prenatal period, all causes leading to hydrops fetalis should be considered in the diagnosis of PL. Fetal ultrasound evaluation plays a key role in the antenatal diagnosis of PL. At birth, mechanical ventilation and pleural drainage are nearly always necessary to obtain a favorable outcome of respiratory distress. Home supplemental oxygen therapy and symptomatic treatment of recurrent cough and wheeze are often necessary during childhood, sometimes associated with prolonged pleural drainage. Recent advances in intensive neonatal care have changed the previously nearly fatal outcome of PL at birth. Patients affected by PL who survive infancy, present medical problems which are characteristic of chronic lung disease.

  14. Congenital Short QT Syndrome

    Directory of Open Access Journals (Sweden)

    Charles Antzelevitch

    2004-04-01

    Full Text Available Long QT intervals in the ECG have long been associated with sudden cardiac death. The congenital long QT syndrome was first described in individuals with structurally normal hearts in 1957.1 Little was known about the significance of a short QT interval. In 1993, after analyzing 6693 consecutive Holter recordings Algra et al concluded that an increased risk of sudden death was present not only in patients with long QT interval, but also in patients with short QT interval (<400 ms.2 Because this was a retrospective analysis, further evaluation of the data was not possible. It was not until 2000 that a short-QT syndrome (SQTS was proposed as a new inherited clinical syndrome by Gussak et al.3 The initial report was of two siblings and their mother all of whom displayed persistently short QT interval. The youngest was a 17 year old female presenting with several episodes of paroxysmal atrial fibrillation requiring electrical cardioversion.3 Her QT interval measured 280 msec at a heart rate of 69. Her 21 year old brother displayed a QT interval of 272 msec at a heart rate of 58, whereas the 51 year old mother showed a QT of 260 msec at a heart rate of 74. The authors also noted similar ECG findings in another unrelated 37 year old patient associated with sudden cardiac death.

  15. Congenital Progressive Mutilating Hemangioma

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    Anastasiya Chokoeva

    2017-06-01

    Full Text Available A 73-year-old male patient was admitted with symptoms of decompensated cardiac and pulmonary insufficiency with long-lasting history. A tumor-like formation was observed within the clinical examination, covering the whole skin of the nose, paranasal region of the left part of the face, as well as the upper and lower left eyelids. The lesion was with yellow to brownish surface and dark-reddish to violet discolored peripheral area, composed of nodular formations, smooth central surface and firm texture on palpation. The histopathological examination verified the diagnosis of hemangioma, which had been congenital, regarding the patient’s history, treated surgically about 50 years ago, with signs of recurrence. The presented patient had been treated surgically at the age of 20, without medical evidence of the type of the performed excision. The recurrence occurs almost 50 years later, at the age of 78. To the best of our knowledge, this is the first reported recurrence of infantile hemangioma, treated surgically almost 50 years ago.

  16. [Congenital cataract: general review].

    Science.gov (United States)

    Roche, O; Beby, F; Orssaud, C; Dupont Monod, S; Dufier, J L

    2006-04-01

    Cataract is a loss of lens transparency because of a protein alteration. Etiopathogenesis is poorly understood but new mutations of different developmental genes involved are found in 25% of cases. Frequency of onset, particularly when different ocular development anomalies occur, is related to the lens induction phenomena on the eye's anterior segment structure during embryologic development. Genetic transmission is often found on the dominant autosomal mode. Diagnosis is based on a complete and detailed examination of the eye, often with general anaesthesia. This condition predisposes children to later, sometimes serious amblyopia. Different clinical aspects can be observed: from cataract with ocular and/or systemic anomalies to polymalformative syndrome, skeletal, dermatological, neurological, metabolic, and genetic or chromosomal diseases. A general systematic pediatric examination is necessary. Congenital cataract requires first and foremost early diagnosis and a search for all etiologies. Surgical treatment is adapted case by case but it has progressed with the quality of today's intraocular lenses even if systematic implantation continues to be debated. Life-long monitoring is absolutely necessary.

  17. [Congenital aortic stenosis].

    Science.gov (United States)

    Yamaguchi, M

    2001-08-01

    Recent advances in and controversies concerning the management of children with congenital valvular aortic stenosis are discussed. In neonates with critical aortic stenosis, improved survival has recently been reported after surgical open valvotomy and balloon valvuloplasty, although it is difficult at this point to compare the results of the two procedures and determine their differential indications. Good results have also been achieved after extended aortic valvuloplasty for recurrent aortic stenosis and/or insufficiency, but the length of follow-up in these patients is still short. The technique first reported in 1991 for bilateral enlargement fo a small annulus permits the insertion of an aortic valve 3-4 sizes larger than the native annulus. It entails no risk of distorting the mitral valve, damaging the conduction system or important branches of the coronary arteries, or resulting in left ventricular dysfunction. The Ross procedure is now widely applied in the West, with reports of early mortality rates of less than 5% and event-free survival rates of 80-90% during follow-up of 4-8 years. Longer follow-up and continued careful evaluation are required to resolve the issue of possible dilatation and subsequent neoaortic valve dysfunction and pulmonary stenosis due to allograft degeneration after pulmonary autograft root replacement in children.

  18. Congenital Scoliosis (Mini-review).

    Science.gov (United States)

    Weiss, Hans-Rudolf; Moramarco, Marc

    2016-01-01

    Congenital scoliosis is a lateral deformity of the spine with a disturbance of the sagittal profile caused by malformations of vertebra and ribs. Typically, early surgical intervention is the suggested treatment (before three-years-old) for young patients with congenital scoliosis. While a previous study was conducted in 2011 to investigate long-term studies supporting the necessity for this recommendation and no evidence was found, this current review, is an updated search for evidence published from 2011 through March 2015. This also failed to find any prospective or randomized controlled studies to support the hypothesis that spinal fusion surgery in patients with congenital scoliosis should be considered as evidence-based treatment. Contradictory results exist on the safety of hemivertebra resection and segmental fusion using pedicle screw fixation. When using the VEPTR (vertical expandable prosthetic titanium rib) device, studies show a high rate of complications exist. It is difficult to predict the final outcome for patients with congenital scoliosis. However, it is possible that many patients with congenital scoliosis may be able to avoid spinal surgery with the application of advanced bracing technology. Therefore, it is only prudent to advocate for conservative management first before spinal surgery is considered.

  19. Genetics Home Reference: congenital dyserythropoietic anemia

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions CDA congenital dyserythropoietic anemia Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Congenital dyserythropoietic anemia ( CDA ) is an inherited blood disorder that affects ...

  20. Genetics Home Reference: congenital leptin deficiency

    Science.gov (United States)

    ... Obesity? National Institute of Diabetes and Digestive and Kidney Diseases: Active at Any Size! Educational Resources (6 links) Centers for Disease Control and Prevention: Obesity and Genetics MalaCards: congenital leptin deficiency Orphanet: Obesity due to congenital leptin deficiency ...

  1. Five Facts about Congenital Heart Defects

    Science.gov (United States)

    ... Button Past Emails CDC Features Five Facts about Congenital Heart Defects Language: English Español (Spanish) Recommend on Facebook Tweet Share Compartir Congenital heart defects are the most common types of birth defects. ...

  2. Genetic Counseling for Congenital Heart Defects

    Science.gov (United States)

    ... Artery Disease Venous Thromboembolism Aortic Aneurysm More Genetic Counseling for Congenital Heart Defects Updated:Oct 26,2015 ... with congenital heart disease considers having children. Genetic counseling can help answer these questions and address your ...

  3. Cerebral palsy and congenital malformations

    DEFF Research Database (Denmark)

    Garne, Ester; Dolk, Helen; Krägeloh-Mann, Inge

    2007-01-01

    AIM: To determine the proportion of children with cerebral palsy (CP) who have cerebral and non-cerebral congenital malformations. METHODS: Data from 11 CP registries contributing to the European Cerebral Palsy Database (SCPE), for children born in the period 1976-1996. The malformations were...... classified as recognized syndromes, chromosomal anomalies, cerebral malformations or non-cerebral malformations. Prevalence of malformations was compared to published data on livebirths from a European database of congenital malformations (EUROCAT). RESULTS: Overall 547 out of 4584 children (11.9%) with CP...... were reported to have a congenital malformation. The majority (8.6% of all children) were diagnosed with a cerebral malformation. The most frequent types of cerebral malformations were microcephaly and hydrocephaly. Non-cerebral malformations were present in 97 CP children and in further 14 CP children...

  4. Paternal transmission of congenital myotonic dystrophy.

    OpenAIRE

    Bergoffen, J; Kant, J.; Sladky, J; McDonald-McGinn, D; Zackai, E H; Fischbeck, K H

    1994-01-01

    The congenital form of myotonic dystrophy is reported to be almost exclusively, if not exclusively, maternally transmitted. We present a case of congenital myotonic dystrophy which was inherited from a mildly affected father. This family illustrates that the congenital form of myotonic dystrophy can occur without intrauterine or other maternal factors related to the disease. The possibility of paternal transmission of the congenital form of myotonic dystrophy could be considered when counsell...

  5. Cisto de colédoco: experiência de cinco anos com o tratamento cirúrgico no hospital municipal JESUS-RJ Choledochal cyst: five-year experience with surgical treatment at hospital municipal JESUS-RJ

    Directory of Open Access Journals (Sweden)

    Lisieux Eyer de Jesus

    2002-12-01

    Full Text Available OBJETIVO: Relatar a experiência no diagnóstico e tratamento do cisto de colédoco no Hospital Municipal Jesus em cinco anos (1996-2001 e a experiência brasileira publicada para o tratamento do cisto de colédoco em crianças. MÉTODO: Avaliação prospectiva dos pacientes operados com o diagnóstico de cisto de colédoco em cinco anos no Hospital Municipal Jesus. RESULTADOS: Houve predomínio de casos diagnosticados pela presença de dor abdominal recorrente, icterícia e/ou massa abdominal palpável. Apenas dois pacientes apresentavam a tríade completa. Todos os pacientes foram submetidos à ultra-sonografia e houve dúvida no diagnóstico ultra-sonográfico em apenas dois. Todos eram cistos do tipo 1 de Todani tratados através de ressecção completa e anastomose biliodigestiva em Y Roux. Houve complicações pós-operatórias imediatas em três pacientes: um caso de hemorragia digestiva alta e dois casos de fístula biliar, um deles relacionado a problemas técnicos na anastomose que necessitou de reoperação. O seguimento variou de quatro meses a cinco anos, sem detecção de complicação tardia em nenhum caso. CONCLUSÕES: O tratamento do cisto de colédoco através da ressecção completa na criança é seguro, relacionado a poucas complicações e capaz de resolver por completo a sintomatologia pré-operatória dos pacientes.BACKGROUND: Our objective is to evaluate prospectively the treatment and diagnosis of choledochal cysts in Hospital Municipal Jesus in a five-year period (1996-2001. METHOD: Prospective evaluation of patients operated on for choledochal cysts in Hospital Municipal Jesus during a five-year period. RESULTS: Patients generally presented recurring abdominal pain, jaundice or an abdominal tumor, but only two presented the complete triad. One patient was asymptomatic and was diagnosed fortuitouslly. All patients could be diagnosed by ultrasonography, and the method accomplished a doubtful diagnosis in only two cases

  6. A Novel Technique for Improving Bodily Experience in a Non-operable Super–Super Obesity Case

    Science.gov (United States)

    Serino, Silvia; Scarpina, Federica; Keizer, Anouk; Pedroli, Elisa; Dakanalis, Antonios; Castelnuovo, Gianluca; Chirico, Alice; Novelli, Margherita; Gaudio, Santino; Riva, Giuseppe

    2016-01-01

    Introduction: The available clinical guidelines for super-super obese patients (i.e., with body mass index (BMI) > 60 kg/m2) that are not suitable for bariatric surgery mandate a palliative multidisciplinary treatment (i.e., production and maintenance of weight loss) provided in a center of excellence. However, the modality and the impact of this approach are still controversial. Moreover, it is not able to address the high level of body dissatisfaction and body distortions that are common among these patients. Clinical Presentation: We report the case of a non-operable super–super obesity – a 37 year old woman with a BMI of 62 kg/m2 – receiving a specialized treatment for her obstructive sleep apnea. She entered a multidisciplinary program that promoted healthy behaviors, including physical activities and psychological intervention. To improve body dissatisfaction, which was linked to a significant multisensory impairment of body perception, she also entered a virtual reality (VR) body-swapping illusion protocol. At the end of the current investigation, the patient continued her multidisciplinary program, reporting an increase in the motivation for undertaking healthy behavior and a decrease in the anxiety feelings associated with her clinical condition. Conclusion: This case provides preliminary evidence that both body dissatisfaction and body-size distortions of non-operable super-super obesity patients could be addressed by a VR body-swapping protocol, which is important because the palliative multidisciplinary treatment recommended for these patients is not able to address them. Interestingly, the use of a VR body-swapping illusion protocol seems to be able to improve not only the experience of the body in these patients but their motivation for change, too. PMID:27378965

  7. A NON-OPERATIVE APPROACH TO THE MANAGEMENT OF CHRONIC EXERTIONAL COMPARTMENT SYNDROME IN A TRIATHLETE: A CASE REPORT

    Science.gov (United States)

    Gilden, Brad

    2016-01-01

    Background & Purpose Chronic Exertional Compartment Syndrome (CECS) causes significant exercise related pain secondary to increased intra-compartmental pressure (ICP) in the lower extremities. CECS is most often treated with surgery with minimal information available on non-operative approaches to care. This case report presents a case of CECS successfully managed with physical therapy. Study Design Case report Case Description A 34-year-old competitive triathlete experienced bilateral anterior and posterior lower leg pain measured with a numerical pain rating scale of 7/10 at two miles of running. Pain decreased to resting levels of 4/10 two hours post exercise. The patient was diagnosed with bilateral CECS with left lower extremity ICP at rest measured at 36 mmHg (deep posterior), 36-38 mmHg (superficial posterior), and 25 mmHg (anterior). Surgery was recommended. Interventions The patient chose non-operative care and was treated with physical therapy using the Functional Manual Therapy approach aimed at addressing myofascial restrictions, neuromuscular function and motor control deficits throughout the lower quadrant for 23 visits over 3.5 months. Outcomes At discharge the patient had returned to running pain free and training for an Olympic distance triathlon. The Lower Extremity Functional Scale improved from 62 to 80. The patient reported minimal post exercise tightness in bilateral lower extremities. Left lower extremity compartment pressure measurements at rest were in normal ranges measuring at 11 mmHg (deep posterior), 8 mmHg (superficial posterior), 19 mmHg (anterior), and 10 mmHg (lateral). Three-years post intervention the patient remained pain free with a Global Rating of Change of 6. Discussion This case report describes the successful treatment of a triathlete with Functional Manual Therapy resulting in a return to competitive sports without pain. Level of Evidence Level 4 PMID:27999729

  8. Hereditary congenital unilateral deafness : A new disorder?

    NARCIS (Netherlands)

    Dikkers, FG; Verheij, JBGM; van Mechelen, M

    2005-01-01

    Congenital unilateral deafness is a rare disorder. The prevalence rates are unknown. The prevalence of children with severe to profound hearing losses that are congenital (or acquired before the development of speech and language) is 0.5 to 3 per 1,000 live births. Evidently, congenital unilateral d

  9. Signs and Symptoms of Congenital Heart Defects

    Science.gov (United States)

    ... Twitter. What Are the Signs and Symptoms of Congenital Heart Defects? Many congenital heart defects cause few or no signs and symptoms. A ... lips, and fingernails) Fatigue (tiredness) Poor blood circulation Congenital heart defects don't cause chest pain or other painful ...

  10. Care and Treatment for Congenital Heart Defects

    Science.gov (United States)

    ... Thromboembolism Aortic Aneurysm More Care and Treatment for Congenital Heart Defects Updated:Oct 26,2015 Not all people with ... supports you in your pursuit of heart health. Congenital Heart Defects • Home • About Congenital Heart Defects • The Impact of ...

  11. [Congenital lumbar hernia and bilateral renal agenesis].

    Science.gov (United States)

    Barrero Candau, R; Garrido Morales, M

    2007-04-01

    We report a new case of congenital lumbar hernia. This is first case reported of congenital lumbar hernia and bilateral renal agenesis. We review literature and describe associated malformations reported that would be role out in every case of congenital lumbar hernia.

  12. Schinzel-Giedion syndrome and congenital megacalyces.

    Science.gov (United States)

    Herman, T E; Sweetser, D A; McAlister, W H; Dowton, S B

    1993-01-01

    The Schinzel-Giedion syndrome is a rare autosomal recessive condition with typical facies, skeletal manifestations and congenital hydronephrosis. We report an infant with characteristic findings who had bilateral congenital megacalyces. Congenital megacalyces is believed to be a developmental abnormality, occurs in other malformation syndromes and has not previously been described in the Schinzel-Giedion syndrome.

  13. MRI of congenital urethroperineal fistula

    Energy Technology Data Exchange (ETDEWEB)

    Ghadimi-Mahani, Maryam; Dillman, Jonathan R.; Pai, Deepa; DiPietro, Michael [C. S. Mott Children' s Hospital, Department of Radiology, Section of Pediatric Radiology, University of Michigan Health System, Ann Arbor, MI (United States); Park, John [C. S. Mott Children' s Hospital, Department of Pediatric Urology, University of Michigan Health System, Ann Arbor, MI (United States)

    2010-12-15

    We present the MRI features of a congenital urethroperineal fistula diagnosed in a 12-year-old boy being evaluated after a single urinary tract infection. This diagnosis was initially suggested by voiding cystourethrogram and confirmed by MRI. Imaging revealed an abnormal fluid-filled tract arising from the posterior urethra and tracking to the perineal skin surface that increased in size during micturition. Surgical resection and histopathological evaluation of the abnormal tract confirmed the diagnosis of congenital urethroperineal fistula. MRI played important roles in confirming the diagnosis and assisting surgical planning. (orig.)

  14. Congenital syphilis surveillance

    Directory of Open Access Journals (Sweden)

    Antonella Marangoni

    2011-06-01

    Full Text Available Congenital syphilis (CS is mainly a consequence of the lack of antenatal care and control of sexually transmitted infections.The bedrock of the prevention of CS is syphilis diagnosis by serological screening during pregnancy.Current Italian guidelines suggest that all the pregnant women should be tested in the first trimester. Due to the frequently absence of specific signs of infection at birth, laboratory tests are often the only method for a correct CS diagnosis. The aim of this study was to evaluate the usefulness of Treponema pallidum IgM Western Blot (WB and Polymerase Chain Reaction (PCR on cerebrospinal fluid (CSF as an aid in the diagnosis of CS during a prospective surveillance study carried out at St. Orsola Hospital in Bologna, Italy, from November 2000 through June 2010. All pregnant women during pregnancy and at delivery were screened for syphilis by ARCHITECT® Syphilis TP, Abbott. Positive samples were further analysed by Treponema Pallidum Hemagglutination Test (TPHA and Rapid Plasma Reagin (RPR tests, Radim.An in-house Western Blot (WB was also performed. Infants born to syphilis seropositive mothers were enrolled in a prospective follow up. At birth, tests were performed (including IgM WB. Infants with positive RPR tests at birth born to mothers not adequately treated received also a long bone radiograph as well as a complete CSF analysis, including Veneral Disease Research Laboratori (VDRL (Siemens Healthcare Diagnostics and PCR testing. All seroreactive infants received careful follow up examinations and serological testing at 0, 3, 6, 9, 12 months or until the tests became negative. In this study, positive syphilis serology was noted in 151 pregnant women delivering in our hospital. Fifteen women had never been adequately treated, and 9 out 15 gave birth to infected newborns.All these 9 infants had positive IgM WB results on serum samples. Two babies had characteristic long bone lesions at X-ray examination and 3 were born

  15. 鼻胃管引流在胆总管切开一期缝合术中的护理体会%Nursing Experience in Nasogastric Tube Drainage for Primary Suture of Choledoch Incision

    Institute of Scientific and Technical Information of China (English)

    常永智; 王少彬

    2014-01-01

    目的:探讨鼻胃管引流在胆总管切开一期缝合术中的护理体会。方法:回顾性分析我院2010年5月~2012年5月门诊收住入院的通过内置鼻胆管引流实施腹腔镜或开腹胆总管探查后一期缝合胆总管治疗的70例胆道结石患者的临床资料。结果:70例患者手术均获成功,鼻胃管放置时间为4.6±1.0天;63例(90.0%)患者认为引流效果满意;5例患者引流不畅后应用注射器抽生理盐水冲洗后引流顺利;2例患者发生出血,均为胆管癌患者,应用去甲肾上腺素后症状缓解,均无护理并发症发生。结论:有针对性地提出护理问题并采取相应护理措施,重视并做好基础护理是保证手术成功的前提。%To investigate the nursing experience of nasogastric tube drainage for primary suture of choledoch incision. Methods:Clinical data of 70 biliary calculi outpatient treated with nasogastric tube drainage for primary suture of choledoch incision in our hospital form May 2010 to May 2012 were retrospectively analyzed. Results:70 cases succeeded in operation, placement time of nasogastric tube was 4.6 ± 1.0 days;63 cases (90%) were satisfied with drainage;5 cases of patients with poor drainage were well drainage after the normal saline flushing with syringe;2 patients with cholangiocarcinoma bled, which were remission after applied with norepinephrine, all without nursing complications. Conclusion:The prerequi-site of successful operation is with corresponding nursing measures for pertinency nursing problems and attach importance to basic nursing and achieve.

  16. Congenital anomalies in Primorsky region.

    Science.gov (United States)

    Kiku, P; Voronin, S; Golokhvast, K

    2015-01-01

    According to WHO hereditary diseases and congenital malformations contribute significantly to the health of population. Thus, the problems of epidemiology, clinical presentation, diagnosis and treatment of congenital abnormalities are of interest for many researchers [2]. In addition, the dynamic accounting for the incidence of congenital malformations and hereditary diseases allows the researchers to assess the ecological situation in the region [1]. The occurrence of congenital anomalies in the world varies; it depends heavily on how carefully the data is collected [4]. Multifactorial or polygenic diseases develop under the influence of environmental factors in the presence of defective genes. They can constitute up to 90% of all chronic pathology [2-5]. To determine the incidence of congenital anomalies under the influence of environmental factors. The study used the methodology of system evaluation of congenital anomalies incidence in Primorsky region, depending on bio-climatic and environmental conditions. The authors used health statistics for the period from 2000 to 2014, F.12 class for congenital abnormalities in adolescents and children that were compared in geographical and temporal aspects with environmental factors of 33 settlements in Primorsky region. The environment is represented by nature and climate (6 factor modules) and sanitation (7 factor modules) blocks of factors. When formalizing the information database of the environment a specially developed 10-point assessment scale was used. Statistical processing of the information was carried out using Pearson's chi-squared test and multiple regression method from SSPS application program package. The study found that over the 15-year period the level of congenital abnormalities in children increased by 27.5% and in adolescents - by 35.1%, and in 2014 it amounted to 1687.6 and 839.3 per 100 000 people, respectively. The predictive model shows a steady further growth of this pathology. The incidence

  17. Oral pathology case: congenital epulides

    OpenAIRE

    Amorim, J.

    2010-01-01

    A one month-old girl was referred to our department due a neoformation of the mandible. The excisional biopsy of the lesion revealed a congenital epulides of the newborn. This is an uncommon lesion, easy to diagnose, as it has a typical appearance and localisation. Surgical treatment is the option, namely when it impairs feeding, swallowing or breathing.

  18. [Genetics of congenital heart diseases].

    Science.gov (United States)

    Bonnet, Damien

    2017-06-01

    Developmental genetics of congenital heart diseases has evolved from analysis of serial slices in embryos towards molecular genetics of cardiac morphogenesis with a dynamic view of cardiac development. Genetics of congenital heart diseases has also changed from formal genetic analysis of familial recurrences or population-based analysis to screening for mutations in candidates genes identified in animal models. Close cooperation between molecular embryologists, pathologists involved in heart development and pediatric cardiologists is crucial for further increase of knowledge in the field of cardiac morphogenesis and genetics of cardiac defects. The genetic model for congenital heart disease has to be revised to favor a polygenic origin rather than a monogenic one. The main mechanism is altered genic dosage that can account for heart diseases in chromosomal anomalies as well as in point mutations in syndromic and isolated congenital heart diseases. The use of big data grouping information from cardiac development, interactions between genes and proteins, epigenetic factors such as chromatin remodeling or DNA methylation is the current source for improving our knowledge in the field and to give clues for future therapies. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  19. Oral pathology case: congenital epulides

    OpenAIRE

    Amorim, J

    2010-01-01

    A one month-old girl was referred to our department due a neoformation of the mandible. The excisional biopsy of the lesion revealed a congenital epulides of the newborn. This is an uncommon lesion, easy to diagnose, as it has a typical appearance and localisation. Surgical treatment is the option, namely when it impairs feeding, swallowing or breathing.

  20. Prenatal diagnosis of congenital diseases

    NARCIS (Netherlands)

    M.F. Niermeijer (Martinus)

    1975-01-01

    textabstractPrenatal diagnosis of a number of congenital diseases is possible by amniocentesis in the 14th - 16th week of pregnancy and subsequent analysis of cultured amniotic fluid cells or amniotic fluid supernatant. Parents at risk for a child with a chromosomal disorder, an X-linked disease, a

  1. Congenital dacryocystocele: prenatal MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Yazici, Zeynep [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Uludag University, Department of Radiology, Faculty of Medicine, Bursa (Turkey); Kline-Fath, Beth M.; Rubio, Eva I.; Calvo-Garcia, Maria A.; Linam, Leann E. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Yazici, Bulent [Uludag University, Department of Ophthalmology, Faculty of Medicine, Bursa (Turkey)

    2010-12-15

    Congenital dacryocystocele can be diagnosed prenatally by imaging. Prenatal MRI is increasingly utilized for fetal diagnosis. To present the radiological and clinical features of seven fetuses with congenital dacryocystocele diagnosed with prenatal MRI. The institutional database of 1,028 consecutive prenatal MR examinations performed during a period of 4 years was reviewed retrospectively. The cases of congenital dacryocystocele were identified by reading the report of each MRI study. The incidence of dacryocystocele diagnosed with prenatal MRI was 0.7% (n=7/1,028). The dacryocystocele was bilateral in three fetuses. Mean gestational age at the time of diagnosis was 31 weeks. The indication for prenatal MRI was the presence or the suspicion of central nervous system abnormality in six fetuses and diaphragmatic hernia in one. Dacryocystocele was associated with an intranasal cyst in six of ten eyes. Prenatal sonography revealed dacryocystocele in only two of seven fetuses. Of eight eyes with postnatal follow-up, four did not have any lacrimal symptoms. Prenatal MRI can delineate congenital dacryocystocele more clearly and in a more detailed fashion than ultrasonography. Presence of dacryocystocele was symptomatic in only 50% of our patients, supporting that prenatal diagnosis of dacryocystocele might follow a benign course. (orig.)

  2. Embryology of congenital diaphragmatic hernia.

    Science.gov (United States)

    Kluth, D; Keijzer, R; Hertl, M; Tibboel, D

    1996-11-01

    It is still generally believed that the defect in congenital diaphragmatic hernia results from failure of the so-called pleuroperitoneal canals (PPCs) to close at the end of the embryonic period (8th gestational week). Furthermore, it is assumed that gut could enter the thoracic cavity through this defect, causing compression and finally hypoplasia of the lung. However, this sequence of embryological events has never been studied, and many details even of normal diaphragmatic development are still unknown. Using scanning electron microscopy and a new animal model of congenital diaphragmatic hernia (CDH), the nitrofen rat model, the normal embryology of the diaphragm was reinvestigated and, for the first time, the crucial developmental steps of congenital diaphragmatic hernia formation were studied. The basic results were: (1) In normal development, the PPCs are never wide enough to allow herniation of gut loops. (2) The formation of the defect happens in an early embryonic period. (3) The early ingrowth of liver through the defect is of major importance for the formation of CDH. In another set of experiments, the nitrofen rat model of congenital diaphragmatic hernias was used to study the cellular mechanisms involved during epithelial and mesenchymal growth and differentiation in normal and in abnormal lungs. These results, combined with selected culture techniques (eg, branching morphogenesis and epithelio-mesenchymal interaction) probably open new ways to a better understanding of the mechanisms that finally lead to an abnormal lung in CDH.

  3. Congenital Chagas disease: an update.

    Science.gov (United States)

    Carlier, Yves; Sosa-Estani, Sergio; Luquetti, Alejandro O; Buekens, Pierre

    2015-05-01

    Congenital infection with Trypanosoma cruzi is a global problem, occurring on average in 5% of children born from chronically infected mothers in endemic areas, with variations depending on the region. This presentation aims to focus on and update epidemiological data, research methods, involved factors, control strategy and possible prevention of congenital infection with T. cruzi. Considering that etiological treatment of the child is always effective if performed before one year of age, the diagnosis of infection in pregnant women and their newborns has to become the standard of care and integrated into the surveillance programs of syphilis and human immunodeficiency virus. In addition to the standard tests, polymerase chain reaction performed on blood of neonates of infected mothers one month after birth might improve the diagnosis of congenital infection. Recent data bring out that its transmission can be prevented through treatment of infected women before they become pregnant. The role of parasite genotypes and host genetic factors in parasite transmission and development of infection in foetuses/neonates has to be more investigated in order to better estimate the risk factors and impact on health of congenital infection with T. cruzi.

  4. Congenital Chagas disease: an update

    Directory of Open Access Journals (Sweden)

    Yves Carlier

    2015-05-01

    Full Text Available Congenital infection with Trypanosoma cruzi is a global problem, occurring on average in 5% of children born from chronically infected mothers in endemic areas, with variations depending on the region. This presentation aims to focus on and update epidemiological data, research methods, involved factors, control strategy and possible prevention of congenital infection with T. cruzi. Considering that etiological treatment of the child is always effective if performed before one year of age, the diagnosis of infection in pregnant women and their newborns has to become the standard of care and integrated into the surveillance programs of syphilis and human immunodeficiency virus. In addition to the standard tests, polymerase chain reaction performed on blood of neonates of infected mothers one month after birth might improve the diagnosis of congenital infection. Recent data bring out that its transmission can be prevented through treatment of infected women before they become pregnant. The role of parasite genotypes and host genetic factors in parasite transmission and development of infection in foetuses/neonates has to be more investigated in order to better estimate the risk factors and impact on health of congenital infection with T. cruzi.

  5. Patient profiling can identify patients with adult spinal deformity (ASD) at risk for conversion from non-operative to surgical treatment: initial steps to reduce ineffective ASD management.

    Science.gov (United States)

    Passias, Peter G; Jalai, Cyrus M; Line, Breton G; Poorman, Gregory W; Scheer, Justin K; Smith, Justin S; Shaffrey, Christopher I; Burton, Douglas C; Fu, Kai-Ming G; Klineberg, Eric O; Hart, Robert A; Schwab, Frank; Lafage, Virginie; Bess, Shay

    2017-07-05

    Non-operative management is a common initial treatment for patients with adult spinal deformity (ASD) despite reported superiority of surgery with regard to outcomes. Ineffective medical care is a large source of resource drain on the health system. Characterization of patients with ASD likely to elect for operative treatment from non-operative management may allow for more efficient patient counseling and cost savings. This study aimed to identify deformity and disability characteristics of patients with ASD who ultimately convert to operative treatment compared with those who remain non-operative and those who initially choose surgery. A retrospective review was carried out. A total of 510 patients with ASD (189 non-operative, 321 operative) with minimum 2-year follow-up comprised the patient sample. Oswestry Disability Index (ODI), Short-Form 36 Health Assessment (SF-36), Scoliosis Research Society questionnaire (SRS-22r), and spinopelvic radiographic alignment were the outcome measures. Demographic, radiographic, and patient-reported outcome measures (PROMs) from a cohort of patients with ASD prospectively enrolled into a multicenter database were evaluated. Patients were divided into three treatment cohorts: Non-operative (NON=initial non-operative treatment and remained non-operative), Operative (OP=initial operative treatment), and Crossover (CROSS=initial non-operative treatment with subsequent conversion to operative treatment). NON and OP groups were propensity score-matched (PSM) to CROSS for baseline demographics (age, body mass index, Charlson Comorbidity Index). Time to crossover was divided into early (1 year). Outcome measures were compared across and within treatment groups at four time points (baseline, 6 weeks, 1 year, and 2 years). Following PSM, 118 patients were included (NON=39, OP=38, CROSS=41). Crossover rate was 21.7% (41/189). Mean time to crossover was 394 days. All groups had similar baseline sagittal alignment, but CROSS had larger

  6. Congenital absence of uterine cervix

    Directory of Open Access Journals (Sweden)

    Selvaraj Ravi Lakshmy

    2016-10-01

    Full Text Available Cervical agenesis or dysgenesis is an extremely rare congenital anomaly. Patients with congenital absence of the cervix present with primary amenorrhea and infertility. Though it poses a diagnostic challenge to the clinician, correct diagnosis prior to surgery is possible with the help of ultrasound. Early diagnosis offers significant advantages in patient care and effective presurgical planning. This case report reviews two cases of cervical agenesis diagnosed with the help of ultrasound and later confirmed with the help of MRI. Ultrasonography is the modality of choice to define the internal genital anatomy and helps us to classify the level of obstruction or aplasia in obstructive uterine anomalies. [Int J Reprod Contracept Obstet Gynecol 2016; 5(10.000: 3634-3636

  7. Congenital myotonia in related kittens.

    Science.gov (United States)

    Hickford, F H; Jones, B R; Gething, M A; Pack, R; Alley, M R

    1998-06-01

    Four closely related domestic shorthair kittens were investigated following the detection of abnormalities in their gait, difficulty opening their mouths and muscle hypertrophy. They walked with a stiff, stilted gait, with the stiffness reducing during exercise. Startling of the kittens resulted in hyperextension of the limbs and falling to lateral recumbency, or spasm of the orbicularis oculi muscle, prolonged prolapse of the nictitating membranes and flattening of the ears. One kitten was intermittently dysphonic. Endotracheal intubation of the anaesthetised kittens was difficult due to an inability to open the mouth to a wide angle, and narrowing of the glottis due to muscle spasm. A diagnosis of congenital myotonia was made based on the clinical signs, the kittens' ages, typical myotonic discharges on electromyography, and the histopathological and histochemical findings in muscle. This is the first report of congenital myotonia in this species.

  8. [Radiological evaluation of congenital tumors].

    Science.gov (United States)

    Aguado del Hoyo, A; Ruiz Martín, Y; Lancharro Zapata, Á; Marín Rodríguez, C; Gordillo Gutiérrez, I

    2015-01-01

    In this article, we consider tumors that are diagnosed during pregnancy or in the first three months of life. This is a heterogeneous group of neoplasms with special biological and epidemiological characteristics that differentiate them from tumors arising in children or adults. In the last two decades, the prenatal detection of congenital tumors has increased due to the generalized use of prenatal sonographic screening. Advances in imaging techniques, especially in fetal magnetic resonance imaging, have enabled improvements in the diagnosis, follow-up, clinical management, and perinatal treatment of these tumors. This image-based review of the most common congenital tumors describes their histologic types, locations, and characteristics on the different imaging techniques used.

  9. Congenital syphilis: The continuing scourge.

    Science.gov (United States)

    Agrawal, Prachi G; Joshi, Rajesh; Kharkar, Vidya D; Bhaskar, M V

    2014-01-01

    Congenital syphilis is a severe, disabling infection that occurs due to the transmission of Treponema pallidum across the placenta during pregnancy or from contact with an infectious genital lesion during delivery. However, its early diagnosis is often difficult because more than half of the affected infants are asymptomatic, and the signs in symptomatic infants may be subtle and nonspecific. Although its incidence is declining, this long-forgotten disease continues to affect pregnant women, resulting in considerable perinatal morbidity and mortality. We hereby report a case of a 2-month-old infant with early congenital syphilis presenting with joint swellings and Parrot's pseudoparalysis, a comparative rarity in the present scenario. The report also stresses upon the importance of implementing the Centres for Disease Control and Prevention recommendation that all the pregnant women should be screened for syphilis in the first antenatal visit in the first trimester and again in late pregnancy.

  10. Congenital Absence of the Pericardium.

    Science.gov (United States)

    Lopez, David; Asher, Craig R

    Congenital absence of the pericardium (CAP) is one of the rarest cardiac congenital anomalies. It can occur as a complete absence of the entire pericardium, absence of the right or left portion of the pericardium or a partial, foramen-like defect of the right or left pericardium. While the majority of cases are clinically silent, multiple reports associate CAP with symptomatic presentation. The most feared complication of CAP is sudden death due to cardiac strangulation across a partial defect of the left pericardium. Given its rare occurrence, most clinicians and imaging specialists will have little experience with this condition and may fail to recognize it on thoracic or cardiac studies. Thus, the purpose of this review is to highlight the common clinical and multimodality imaging features associated with this anomaly and suggest a management algorithm. Copyright © 2016. Published by Elsevier Inc.

  11. Prenatal education for congenital toxoplasmosis.

    Science.gov (United States)

    Di Mario, Simona; Basevi, Vittorio; Gagliotti, Carlo; Spettoli, Daniela; Gori, Gianfranco; D'Amico, Roberto; Magrini, Nicola

    2015-10-23

    Congenital toxoplasmosis is considered a rare but potentially severe infection. Prenatal education about congenital toxoplasmosis could be the most efficient and least harmful intervention, yet its effectiveness is uncertain. To assess the effects of prenatal education for preventing congenital toxoplasmosis. We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (31 May 2015), and reference lists of relevant papers, reviews and websites. Randomized and quasi-randomized controlled trials of all types of prenatal education on toxoplasmosis infection during pregnancy. Cluster-randomized trials were eligible for inclusion. Two review authors independently assessed trials for inclusion and risk of bias, extracted data and checked them for accuracy. Two cluster-randomized controlled trials (RCTs) (involving a total of 5455 women) met the inclusion criteria. The two included trials measured the effectiveness of the intervention in different ways, which meant that meta-analysis of the results was not possible. The overall quality of the two studies, as assessed using the GRADE approach, was low, with high risk of detection and attrition bias in both included trials.One trial (432 women enrolled) conducted in Canada was judged of low methodological quality. This trial did not report on any of the review's pre-specified primary outcomes and the secondary outcomes reported results only as P values. Moreover, losses to follow-up were high (34%, 147 out of 432 women initially enrolled). The authors concluded that prenatal education can effectively change pregnant women's behavior as it increased pet, personal and food hygiene. The second trial conducted in France was also judged of low methodological quality. Losses to follow-up were also high (44.5%, 2233 out of 5023 women initially enrolled) and differential (40% in the intervention group and 52% in the control group). The authors concluded that prenatal education for congenital toxoplasmoses has a

  12. [Congenital ranula in a newborn].

    Science.gov (United States)

    Bernhard, M K; Hückel, D; Hamala, D

    2007-05-01

    Ranulas are cystic lesions in the floor of the mouth. They are either retention cysts of the excretory duct of the sublingual gland or pseudocysts formed by excretory duct rupture followed by extravasation and accumulation of mucus in the surrounding tissue. We report the case of a premature newborn with a congenital ranula in the floor of mouth. The ranula caused no discomfort or complications, so that immediate intervention was not necessary. The cyst resolved completely by the age of 4 months. Complications in newborns especially include airway obstruction and feeding difficulties. Surgical treatment options are needle aspiration, excision of the ranula, marsupialization, cryosurgery, and--in addition to excision of the cyst--removal of the ipsilateral sublingual gland. Sclerotherapy has shown good results as well. As many congenital cysts resolve or rupture spontaneously, they should be observed for potential resolution for several months in uncomplicated cases.

  13. Congenital hypopituitarism and renal failure

    Directory of Open Access Journals (Sweden)

    Gaurav Atreja

    2011-01-01

    Full Text Available Congenital hypopituitarism is potentially fatal in the newborn period but treatable if the diagnosis is made early. We report a neonate who presented with hypothermia and severe hypoglycemia. He also had undescended testis and micropenis. Initial screening revealed panhypopituitarism, which was corrected promptly. He developed renal failure due to initial cardiovascular compromise related to hypotension but recovered quickly with standard management. Magnetic resonance imaging revealed absent stalk of anterior pituitary.

  14. Congenital deficiency of factor VII.

    Science.gov (United States)

    Sikka, M; Gomber, S; Madan, N; Rusia, U; Sharma, S

    1996-01-01

    A case of congenital factor VII deficiency in a five-year-old child is reported. The patient, born of a non-consanguineous marriage, presented with repeated bouts of epistaxis since childhood. The prothrombin time (PT) was markedly prolonged with a normal bleeding time (BT), partial thromboplastin time with Kaolin (PTTK) and platelet count. The patient has been on follow up for the last four years and is doing apparently well.

  15. Laboratory Diagnosis of Congenital Toxoplasmosis

    OpenAIRE

    2016-01-01

    Recent studies have demonstrated that screening and treatment for toxoplasmosis during gestation result in a decrease of vertical transmission and clinical sequelae. Early treatment was associated with improved outcomes. Thus, laboratory methods should aim for early identification of infants with congenital toxoplasmosis (CT). Diagnostic approaches should include, at least, detection of Toxoplasma IgG, IgM, and IgA and a comprehensive review of maternal history, including the gestational age ...

  16. Clinicobacteriological Significance in Congenital Dacryocystitis

    Directory of Open Access Journals (Sweden)

    Bhavna Raina, Sudhir Bhagotra

    2010-10-01

    Full Text Available In the present study, 37 eyes of 30 congenital dacryocystitis patients (7 bilateral were studied, out ofwhich 60% of patients were male and 40% female. Gram positive cocci constituted the major bacterialisolate (56.7% with Streptococcus pneumoniae (27.9% predominating. Most effective antibiotics againstthe commonest organism Streptococcus pneumoniae were Tobramycin and Gentamycin showing 100%effectivity. Staphylococcus albus 17.4% was the most common normal conjunctival commensal isolated.

  17. CONGENITAL PSEUDARTHROSIS OF THE CLAVICLE

    OpenAIRE

    de Figueiredo, Marina Juliana Pita Sassioto Silveira; dos Reis Braga, Susana; Akkari,Miguel; Prado, José Carlos Lopes; Santili, Cláudio

    2015-01-01

    Congenital pseudarthrosis of the clavicle (PCC) is a rare affection, that can be diagnosed at birth and represent a disturbance of union of the ossification centers. It's more common in girls and in the right side. This study objectives to proceed a revision about the subject, that was searched in online database of LILACS and MEDLINE. We found 56 articles till present data. Besides be a bit infrequent, the PCC must not be missed or even forgotten, especially as differential diagnosis with ac...

  18. Syndromes with congenital brittle bones

    Directory of Open Access Journals (Sweden)

    Plotkin Horacio

    2004-08-01

    Full Text Available Abstract Background There is no clear definition of osteogenesis imperfecta (OI. The most widely used classification of OI divides the disease in four types, although it has been suggested that there may be at least 12 forms of OI. These forms have been named with numbers, eponyms or descriptive names. Some of these syndromes can actually be considered congenital forms of brittle bones resembling OI (SROI. Discussion A review of different syndromes with congenital brittle bones published in the literature is presented. Syndromes are classified in "OI" (those secondary to mutations in the type I pro-collagen genes, and "syndromes resembling OI" (those secondary to mutations other that the type I pro-collagen genes, identified or not. A definition for OI is proposed as a syndrome of congenital brittle bones secondary to mutations in the genes codifying for pro-collagen genes (COL1A1 and COL1A2. Summary A debate about the definition of OI and a possible clinical and prognostic classification are warranted.

  19. Congenital Portosystemic Shunt: Our Experience

    Directory of Open Access Journals (Sweden)

    Tiziana Timpanaro

    2015-01-01

    Full Text Available Introduction. Congenital portosystemic venous malformations are rare abnormalities in which the portal blood drains into a systemic vein and which are characterized by extreme clinical variability. Case Presentations. The authors present two case reports of a congenital extrahepatic portosystemic shunt (Type II. In the first patient, apparently nonspecific symptoms, such as headache and fatigue, proved to be secondary to hypoglycemic episodes related to the presence of a portosystemic shunt, later confirmed on imaging. During portal vein angiography, endovascular embolization of the portocaval fistula achieved occlusion of the anomalous venous tract. In the second patient, affected by Down’s syndrome, the diagnosis of a portosystemic malformation was made by routine ultrasonography, performed to rule out concurrent congenital anomalies. Because of the absence of symptoms, we chose to observe this patient. Conclusions. These two case reports demonstrate the clinical heterogeneity of this malformation and the need for a multidisciplinary approach. As part of a proper workup, clinical evaluation must always be followed by radiographic diagnosis.

  20. Major congenital anomalies in a Danish region

    DEFF Research Database (Denmark)

    Garne, Ester; Hansen, Anne Vinkel; Birkelund, Anne Sofie

    2014-01-01

    congenital anomaly, 13.9% had a chromosomal anomaly and 7.7% were multiple congenital anomalies. The combined foetal and infant mortality in the study area was 11.6 per 1,000 births. 19% (2.2 per 1,000) of these deaths were foetuses and infants with major congenital anomalies. Combined foetal and infant......INTRODUCTION: This study describes the prevalence of congenital anomalies and changes over time in birth outcome, mortality and chronic maternal diseases. MATERIAL AND METHODS: This study was based on population data from the EUROCAT registry covering the Funen County, Denmark, 1995......-2008. The registry covers live births, foetal deaths with a gestational age (GA) of 20 weeks or more, and terminations of pregnancy due to congenital anomalies (TOPFA). RESULTS: The overall prevalence of congenital anomalies was 2.70% (95% confidence interval: 2.58-2.80). The majority of cases had an isolated...

  1. MANAGEMENT OF CONGENITAL TALIPES EQUINOVARUS BY PONSETI METHOD

    Directory of Open Access Journals (Sweden)

    Mohammad

    2014-10-01

    Full Text Available INTRODUCTION: Idiopathic congenital talipes equinovarus (CTEV, a congenital deformity that has plagued the medical profession and society before the days of Hippocrates. Most of the orthopedic surgeons are now of the opinion that the initial treatment of clubfoot should be non-operative. Many different method of non- surgical treatment are being used with reported success rate from 15 to 90%. Sir Ignatio Ponseti a leading advocate of conservative treatment of clubfoot by serial casting achieves excellent result if instituted early. The present study, therefore, has been undertaken to determine the treatment outcomes of patients treated with ponseti casting technique and establish if results produced by ponseti method is reproducible. AIMS OF STUDY: 1. To study and evaluate the Ponseti method of treatment of congenital talipes equinovarus. 2. To obtain a painless, plantigrade, pliable, cosmetically and functionally acceptable foot. MATERIALS AND METHODS: The study was conducted in the Department of Orthopedics, Hindu rao hospitals between July2009 to nov2010. A total of 30 feet of 25 patients were included in the study between the age of 1week to 6 months. INCLUSION CRITERIA Children with virgin idiopathic clubfoot in the age group of 1week to 6 months. EXCLUSION CRITERIA: a. Secondary clubfoot. b. Those that has already treated by other than Ponseti method. c. children with age 6 months. Clinical assessment Quantification of various components of clubfoot deformity using the Pirani score. RESULTS: In the present study with 25 patients with 30 feet, total duration of our study was 16 months. With average follow up of 11 months. ranges from 6 to 15months, 1 patient with bilateral clubfoot lost in follow up, 4 were shifted to surgical treatment the cause being, severe deformity and noncompliance to conservative technique. Of the remaining 20 patient with 24 feet where treated by ponseti method and the clinical results were assessed and compared

  2. A System-Wide Approach to Physician Efficiency and Utilization Rates for Non-Operating Room Anesthesia Sites.

    Science.gov (United States)

    Tsai, Mitchell H; Huynh, Tinh T; Breidenstein, Max W; O'Donnell, Stephen E; Ehrenfeld, Jesse M; Urman, Richard D

    2017-07-01

    There has been little in the development or application of operating room (OR) management metrics to non-operating room anesthesia (NORA) sites. This is in contrast to the well-developed management framework for the OR management. We hypothesized that by adopting the concept of physician efficiency, we could determine the applicability of this clinical productivity benchmark for physicians providing services for NORA cases at a tertiary care center. We conducted a retrospective data analysis of NORA sites at an academic, rural hospital, including both adult and pediatric patients. Using the time stamps from WiseOR® (Palo Alto, CA), we calculated site utilization and physician efficiency for each day. We defined scheduling efficiency (SE) as the number of staffed anesthesiologists divided by the number of staffed sites and stratified the data into three categories (SE 1). The mean physician efficiency was 0.293 (95% CI, [0.281, 0.305]), and the mean site utilization was 0.328 (95% CI, [0.314, 0.343]). When days were stratified by scheduling efficiency (SE 1), we found differences between physician efficiency and site utilization. On days where scheduling efficiency was less than 1, that is, there are more sites than physicians, mean physician efficiency (95% CI, [0.326, 0.402]) was higher than mean site utilization (95% CI, [0.250, 0.296]). We demonstrate that scheduling efficiency vis-à-vis physician efficiency as an OR management metric diverge when anesthesiologists travel between NORA sites. When the opportunity to scale operational efficiencies is limited, increasing scheduling efficiency by incorporating different NORA sites into a "block" allocation on any given day may be the only suitable tactical alternative.

  3. Development and testing of a photometric method to identify non-operating solar hot water systems in field settings.

    Energy Technology Data Exchange (ETDEWEB)

    He, Hongbo (University of New Mexico, Albuquerque, NM); Vorobieff, Peter V. (University of New Mexico, Albuquerque, NM); Menicucci, David (University of New Mexico, Albuquerque, NM); Mammoli, Andrea A. (University of New Mexico, Albuquerque, NM); Carlson, Jeffrey J.

    2012-06-01

    This report presents the results of experimental tests of a concept for using infrared (IR) photos to identify non-operational systems based on their glazing temperatures; operating systems have lower glazing temperatures than those in stagnation. In recent years thousands of new solar hot water (SHW) systems have been installed in some utility districts. As these numbers increase, concern is growing about the systems dependability because installation rebates are often based on the assumption that all of the SHW systems will perform flawlessly for a 20-year period. If SHW systems routinely fail prematurely, then the utilities will have overpaid for grid-energy reduction performance that is unrealized. Moreover, utilities are responsible for replacing energy for loads that failed SHW system were supplying. Thus, utilities are seeking data to quantify the reliability of SHW systems. The work described herein is intended to help meet this need. The details of the experiment are presented, including a description of the SHW collectors that were examined, the testbed that was used to control the system and record data, the IR camera that was employed, and the conditions in which testing was completed. The details of the associated analysis are presented, including direct examination of the video records of operational and stagnant collectors, as well as the development of a model to predict glazing temperatures and an analysis of temporal intermittency of the images, both of which are critical to properly adjusting the IR camera for optimal performance. Many IR images and a video are presented to show the contrast between operating and stagnant collectors. The major conclusion is that the technique has potential to be applied by using an aircraft fitted with an IR camera that can fly over an area with installed SHW systems, thus recording the images. Subsequent analysis of the images can determine the operational condition of the fielded collectors. Specific

  4. Congenital pseudoarthrosis associated with venous malformation

    Energy Technology Data Exchange (ETDEWEB)

    Al-Hadidy, A.; Haroun, A.; Al-Ryalat, N. [Jordan University Hospital, Radiology Department, P.O. Box 340621, Amman (Jordan); Hamamy, H. [Endocrinology and Genetics, National Center for Diabetes, Amman (Jordan); Al-Hadidi, S. [Jordan University Hospital, Departments of Orthopedics, Amman (Jordan)

    2007-06-15

    Congenital pseudoarthrosis is a pathologic entity that may be isolated, or may be associated with neurofibromatosis. We report the case of a 3-year-old female with congenital pseudoarthrosis involving the right tibia and fibula. Magnetic resonance imaging (MRI) and complementary magnetic resonance angiogram (MRA) revealed a lobulated mass with vivid enhancement, which led to the diagnosis of venous malformation. This is the first report of congenital pseudoarthrosis caused by the presence of a vascular malformation. (orig.)

  5. [Congenital retinal folds in different clinical cases].

    Science.gov (United States)

    Munteanu, M

    2005-01-01

    We present 12 clinical cases of congenital retinal folds with different etiologies: posterior primitive vitreous persistency and hyperplasia (7 cases),retinocytoma (1 case). retinopathy of prematurity (1 case), astrocytoma of the retina (1 case), retinal vasculitis (1 case), Goldmann-Favre syndrome (1 case). Etiopathogenic and nosological aspects are discussed; the congenital retinal folds are interpreted as a symptom in a context of a congenital or acquired vitreo-retinal pathology.

  6. Congenital Pseudoarthrosis of the Tibia: Case Reports

    Directory of Open Access Journals (Sweden)

    Mehmet Bulut

    2014-03-01

    Full Text Available Congenital pseudoarthrosis of the tibia is rarely seen disease which is very difficult to treat. Congenital pseudoarthrosis of the tibia is frequently seen together with neurofibromatosis. Especially according to Boyd classification, type II and V are in the high risk group. In this study, we presented the treatment result of the three years old male patient with type V congenital pseudoarthrosis of the tibia.

  7. History of the Congenital Heart Surgeons' Society.

    Science.gov (United States)

    Mavroudis, Constantine; Williams, William G

    2015-10-01

    The Congenital Heart Surgeons' Society is a group of over 100 pediatric heart surgeons representing 72 institutions that specialize in the treatment of patients with congenital heart defects. The Society began in 1972 and incorporated as a not-for-profit charitable organization in 2004. It has become the face and voice of congenital heart surgery in North America. In 1985, the Society established a data center for multicenter clinical research studies to encourage congenital heart professionals to participate in improving outcomes for our patients. The goals of the Congenital Heart Surgeons' Society are to stimulate the study of congenital cardiac physiology, pathology, and management options which are instantiated in data collection, multi-institutional studies, and scientific meetings. Honest and open discussion of problems with possible solutions to the challenges facing congenital heart professionals have been the strength of the Congenital Heart Surgeons' Society. It is imperative for the growth of an organization to know from where it came in order to know to where it is going. The purpose of this article is to review the history of the Congenital Heart Surgeons' Society. © The Author(s) 2015.

  8. Congenital pseudoarthrosis of the clavicle with bifurcation

    Directory of Open Access Journals (Sweden)

    Narender Kumar Magu

    2014-01-01

    Full Text Available Congenital pseudoarthrosis of clavicle is a rare clinical entity. It usually presents as a swelling in the clavicular region at birth or soon after birth. Fitzwilliam′s original description of 60 subtypes of congenital pseudoarthrosis of clavicle have addressed several anatomical variants, e.g. association with cervical rib and abnormally vertical and elevated upper ribs. However, congenital pseudoarthrosis of clavicle associated with bifurcation is an atypical anatomic variant. To the best of our knowledge, this variant has never been mentioned in the literature. In the present report, we have described this subtype of symptomatic congenital pseudoarthrosis of the clavicle with bifurcation and its possible management.

  9. Challenges Faced by Parents of Children with Congenital Heart Disease

    Science.gov (United States)

    ... Challenges Faced by Parents of Children with Congenital Heart Disease Page Content ​​​The first thing most parents want ... common and expected. About Congenital Heart Defects Congenital Heart Disease (CHD) is the most common type of birth ...

  10. Congenital hydrocephalus in clinical practice : A genetic diagnostic approach

    NARCIS (Netherlands)

    Verhagen, J. M. A.; Schrander-Stumpel, C. T. R. M.; Krapels, P. C.; de Die-Smulders, C. E. M.; van Lint, F. H. M.; Willekes, C.; Weber, J. W.; Gavilanes, A. W. D.; Macville, M. V. E.; Stegmann, A. P. A.; Engelen, J. J. M.; Bakker, J.; Vos, Y. J.; Frints, S. G. M.

    2011-01-01

    Congenital hydrocephalus is a common and often disabling disorder. The etiology is very heterogeneous. Little is known about the genetic causes of congenital hydrocephalus. A retrospective survey was performed including patients with primary congenital hydrocephalus referred to the Department of

  11. Efficacy of early controlled motion of the ankle compared with no motion after non-operative treatment of an acute Achilles tendon rupture

    DEFF Research Database (Denmark)

    Barfod, Kristoffer Weisskirchner; Hansen, Maria Swennergren; Holmich, Per;

    2016-01-01

    BACKGROUND: Early controlled ankle motion is widely used in the non-operative treatment of acute Achilles tendon rupture, though its safety and efficacy have never been investigated in a randomized setup. The objectives of this study are to investigate if early controlled motion of the ankle affe...

  12. Angiosarcoma arising in the non-operated, sclerosing breast after primary irradiation, surviving 6 years post-resection: A case report and review of the Japanese literature

    Directory of Open Access Journals (Sweden)

    Takaaki Ito

    2016-01-01

    Conclusion: Angiosarcoma may occur in the non-operated breast, post irradiation. The potential difficulties of diagnosing angiosarcoma against background fibrosis should be kept in mind. Initial radical surgery currently represents the only effective treatment for improving survival in these patients.

  13. Displaced midshaft fractures of the clavicle: non-operative treatment versus plate fixation (Sleutel-TRIAL). A multicentre randomised controlled trial

    NARCIS (Netherlands)

    Stegeman, S.A.; Jong, M. de; Sier, C.F.M.; Krijnen, P.; Duijff, J.W.; Thiel, T.P. van; Rijcke, P.A. de; Soesman, N.M.; Hagenaars, T.; Boekhoudt, F.D.; Vries, M.R. de; Roukema, G.R.; Tanka, A.F.; Bremer, J. van den; Meulen, H.G. van der; Bronkhorst, M.W.; Dijkman, B.A. van; Zutphen, S.W. van; Vos, Dieuwke; Schep, N.W.; Eversdijk, M.G.; Olden, G.D.J. van; Brand, J.G. van den; Hillen, R.J.; Frolke, J.P.M.; Schipper, I.B.

    2011-01-01

    BACKGROUND: The traditional view that the vast majority of midshaft clavicular fractures heal with good functional outcomes following non-operative treatment may be no longer valid for all midshaft clavicular fractures. Recent studies have presented a relatively high incidence of non-union and ident

  14. Displaced midshaft fractures of the clavicle: Non-operative treatment versus plate fixation (Sleutel-TRIAL). A multicentre randomised controlled trial

    NARCIS (Netherlands)

    S.A. Stegeman (Sylvia); M. de Jong (Mireille); C.F.M. Sier (Cornelis); P. Krijnen (Pieta); J.W. Duijff (Jan); T.P.H. Thiel (Tom); P.A.R. Rijcke (Piet); N.M.R. Soesman (Nicolaj); T. Hagenaars (Tjebbe); F.D. Boekhoudt (Freek D.); M.R. de Vries (Mark); G.R. Roukema (Gert); A.F.K. Tanka (Andras); J. van den Bremer (Jephta); H.G.W.M. Meulen (Hub); M.W.G.A. Bronkhorst (Maarten); B.A. van Dijkman (Bart); S.W.A.M. van Zutphen (Stephan); D.I. Vos (Dagmar); N.W.L. Schep (Niels); M.G. Eversdijk (Martin); G.D.J. van Olden (Ger); J.G.H. van den Brand (Johan); R. Hillen (Robert); J.P.M. Frölke (Jan Paul); I.B. Schipper (Inger)

    2011-01-01

    textabstractBackground: The traditional view that the vast majority of midshaft clavicular fractures heal with good functional outcomes following non-operative treatment may be no longer valid for all midshaft clavicular fractures. Recent studies have presented a relatively high incidence of non-uni

  15. Displaced midshaft fractures of the clavicle: non-operative treatment versus plate fixation (Sleutel-TRIAL). A multicentre randomised controlled trial

    NARCIS (Netherlands)

    Stegeman, S.A.; de Jong, M.; Sier, C.F.M.; Krijnen, P.; Duijff, J.W.; van Thiel, T.P.H.; de Rijcke, P.A.R.; Soesman, N.M.R.; Hagenaars, T.; Boekhoudt, F.D.; de Vries, M.R.; Roukema, G.R.; Tanka, A.F.K.; van den Bremer, J.; van der Meulen, H.G.W.M.; Bronkhorst, M.W.G.A.; van Dijkman, B.A.; van Zutphen, S.W.A.M.; Vos, D.I.; Schep, N.W.L.; Eversdijk, M.G.; van Olden, G.D.J.; van den Brand, J.G.H.; Hillen, R.J.; Frolke, J.P.M.; Schipper, I.B.

    2011-01-01

    Background: The traditional view that the vast majority of midshaft clavicular fractures heal with good functional outcomes following non-operative treatment may be no longer valid for all midshaft clavicular fractures. Recent studies have presented a relatively high incidence of non-union and ident

  16. Associated noncardiac congenital anomalies among cases with congenital heart defects.

    Science.gov (United States)

    Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule

    2015-02-01

    Cases with congenital heart defects (CHD) often have other associated anomalies. The purpose of this investigation was to assess the prevalence and the types of associated anomalies in CHD in a defined population. The anomalies associated with CHD were collected in all live births, stillbirths and terminations of pregnancy during 26 years in 346,831 consecutive pregnancies of known outcome in the area covered by our population based registry of congenital anomalies. Of the 4005 cases with CHD born during this period (total prevalence of 115.5 per 10,000), 1055 (26.3%) had associated major anomalies. There were 354 (8.8%) cases with chromosomal abnormalities including 218 trisomies 21, and 99 (2.5%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VACTERL association. However, other recognized dysmorphic conditions were registered including Noonan syndrome, fetal alcohol syndrome, and skeletal dysplasias. Six hundred and two (15.0%) of the cases had non syndromic, non chromosomal multiple congenital anomalies (MCA). Anomalies in the urinary tract, the musculoskeletal, the digestive, and the central nervous systems were the most common other anomalies. Prenatal diagnosis was obtained in 18.7% of the pregnancies. In conclusion the overall prevalence of associated anomalies, which was one in four infants, emphasizes the need for a thorough investigation of cases with CHD. A routine screening for other anomalies may be considered in infants and in fetuses with CHD. One should be aware that the anomalies associated with CHD can be classified into a recognizable anomaly, syndrome or pattern in one out of nine cases with CHD.

  17. Congenital myotonic dystrophy can show congenital fiber type disproportion pathology.

    Science.gov (United States)

    Tominaga, Kayo; Hayashi, Yukiko K; Goto, Kanako; Minami, Narihiro; Noguchi, Satoru; Nonaka, Ikuya; Miki, Tetsuro; Nishino, Ichizo

    2010-04-01

    Congenital myotonic dystrophy (CDM) is associated with markedly expanded CTG repeats in DMPK. The presence of numerous immature fibers with peripheral halo is a characteristic feature of CDM muscles together with hypotrophy of type 1 fibers. Smaller type 1 fibers with no structural abnormality are a definitive criterion of congenital fiber type disproportion (CFTD). Nonetheless, we recently came across a patient who was genetically confirmed as CDM, but had been earlier diagnosed as CFTD when he was an infant. In this study, we performed clinical, pathological, and genetic analyses in infantile patients pathologically diagnosed as CFTD to evaluate CDM patients indistinguishable from CFTD. We examined CTG repeat expansion in DMPK in 28 infantile patients pathologically diagnosed as CFTD. Mutation screening of ACTA1 and TPM3 was performed, and we compared clinical and pathological findings of 20 CDM patients with those of the other cohorts. We identified four (14%) patients with CTG expansion in DMPK. ACTA1 mutation was identified in four (14%), and TPM3 mutation was found in two (7%) patients. Fiber size disproportion was more prominent in patients with ACTA1 or TPM3 mutations as compared to CFTD patients with CTG expansion. A further three patients among 20 CDM patients showed pathological findings similar to CFTD. From our results, CDM should be excluded in CFTD patients.

  18. Idiopathic erythermalgia: a congenital disorder.

    Science.gov (United States)

    Michiels, J J; van Joost, T; Vuzevski, V D

    1989-11-01

    Idiopathic erythermalgia during early childhood and adolescence is characterized by red, congested, burning pain of the lower extremities provoked by exercise or exposure to warmth. The clinical symptoms of idiopathic erythermalgia in a young woman and her mother are described. Histopathologic and immunofluorescence findings in biopsy specimens of affected areas of skin were consistent with a nonspecific inflammatory process. The condition was completely refractory to any treatment. Even the long-lasting relief of pain with one low dose of aspirin, which is a prerequisite for the diagnosis of thrombocytemic erythromelalgia, was lacking. Idiopathic erythermalgia appears to be a separate clinical entity and congenital disorder.

  19. Endocrine disruptors and congenital anomalies

    Directory of Open Access Journals (Sweden)

    Mônica Rittler

    2002-04-01

    Full Text Available The specialized literature was reviewed concerning the suspected increasing secular trends in the frequency of female births, male genital congenital anomalies, abnormal sperm counts, and testicular cancer. Although no risk factors could be identified yet, the observed sex ratio decline during the last decades has been considered to be an effect of certain pollutants on normal hormone activity, and human reproductive development. Reported increasing trends in the frequencies of hypospadias and cryptorchidism are very difficult to be interpreted due to the large variability in the registered frequency of these malformations due to operational as well as biological reasons.

  20. Laboratory Diagnosis of Congenital Toxoplasmosis.

    Science.gov (United States)

    Pomares, Christelle; Montoya, Jose G

    2016-10-01

    Recent studies have demonstrated that screening and treatment for toxoplasmosis during gestation result in a decrease of vertical transmission and clinical sequelae. Early treatment was associated with improved outcomes. Thus, laboratory methods should aim for early identification of infants with congenital toxoplasmosis (CT). Diagnostic approaches should include, at least, detection of Toxoplasma IgG, IgM, and IgA and a comprehensive review of maternal history, including the gestational age at which the mother was infected and treatment. Here, we review laboratory methods for the diagnosis of CT, with emphasis on serological tools. A diagnostic algorithm that takes into account maternal history is presented.

  1. Congenital Diverticular Disease of the Entire Colon

    Directory of Open Access Journals (Sweden)

    A. Patel

    2013-01-01

    Full Text Available Congenital or true colonic diverticulosis is a rare condition typified by the preservation of the colonic wall architecture within the diverticular outpouching. Cases of multiple jejunal diverticula have been reported as well as cases of solitary giant diverticula of the colon. There have been no reports in the literature of pancolonic congenital diverticulosis.

  2. Bilateral population receptive fields in congenital hemihydranencephaly

    NARCIS (Netherlands)

    Fracasso, Alessio; Koenraads, Yvonne; Porro, Giorgio L.; Dumoulin, Serge O.

    2016-01-01

    Purpose: Congenital hemihydranencephaly (HH) is a very rare disorder characterised by prenatal near-complete unilateral loss of the cerebral cortex. We investigated a patient affected by congenital right HH whose visual field extended significantly into the both visual hemifields, suggesting a reorg

  3. Congenital Plasmodium falciparum Malaria in Washington, DC.

    Science.gov (United States)

    Del Castillo, Melissa; Szymanski, Ann Marie; Slovin, Ariella; Wong, Edward C C; DeBiasi, Roberta L

    2017-01-11

    Congenital malaria is rare in the United States, but is an important diagnosis to consider when evaluating febrile infants. Herein, we describe a case of congenital Plasmodium falciparum malaria in a 2-week-old infant born in the United States to a mother who had emigrated from Nigeria 3 months before delivery. © The American Society of Tropical Medicine and Hygiene.

  4. Multiple congenital defects in a newborn foal

    Directory of Open Access Journals (Sweden)

    J.F. Silva

    2014-12-01

    Full Text Available A case of multiple congenital defects in a newborn foal is reported. The animal showed hypoplasia of the left pelvic limb bones, uterus unicornis, congenital diaphragmatic hernia, and unilateral renal and ureteral agenesis. This report includes the macroscopic and microscopic lesions observed in the case.

  5. Mortality in adult congenital heart disease

    NARCIS (Netherlands)

    Verheugt, Carianne L.; Uiterwaal, Cuno S. P. M.; van der Velde, Enno T.; Meijboom, Folkert J.; Pieper, Petronella G.; van Dijk, Arie P. J.; Vliegen, Hubert W.; Grobbee, Diederick E.; Mulder, Barbara J. M.

    2010-01-01

    Mortality in adults with congenital heart disease is known to be increased, yet its extent and the major mortality risks are unclear. The Dutch CONCOR national registry for adult congenital heart disease was linked to the national mortality registry. Cox's regression was used to assess mortality pre

  6. Mortality in adult congenital heart disease

    NARCIS (Netherlands)

    C.L. Verheugt (Carianne); C.S.P.M. Uiterwaal (Cuno); E.T. van der Velde (Enno); F.J. Meijboom (Folkert); P.G. Pieper (Petronella); A.P.J. van Dijk (Arie); H.W. Vliegen (Hubert); D.E. Grobbee (Diederick); B.J.M. Mulder (Barbara)

    2010-01-01

    textabstractAimsMortality in adults with congenital heart disease is known to be increased, yet its extent and the major mortality risks are unclear.Methods and resultsThe Dutch CONCOR national registry for adult congenital heart disease was linked to the national mortality registry. Cox's regressio

  7. Congenital rubella syndrome and delayed manifestations

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2010-01-01

    Objective: Several hypotheses of different medical and psychological delayed manifestations among people who have congenital rubella syndrome (CRS) have been discussed. This study tests some of these hypotheses of delayed manifestations. Methods: Gathering information about 35 individuals who hav...... which people with CRS face must primarily be understood in relation to congenital deafblindness and dual sensory and communicative deprivation....

  8. Mortality in adult congenital heart disease

    NARCIS (Netherlands)

    C.L. Verheugt (Carianne); C.S.P.M. Uiterwaal (Cuno); E.T. van der Velde (Enno); F.J. Meijboom (Folkert); P.G. Pieper (Petronella); A.P.J. van Dijk (Arie); H.W. Vliegen (Hubert); D.E. Grobbee (Diederick); B.J.M. Mulder (Barbara)

    2010-01-01

    textabstractAimsMortality in adults with congenital heart disease is known to be increased, yet its extent and the major mortality risks are unclear.Methods and resultsThe Dutch CONCOR national registry for adult congenital heart disease was linked to the national mortality registry. Cox's

  9. Mortality in adult congenital heart disease.

    NARCIS (Netherlands)

    Verheugt, C.L.; Uiterwaal, C.S.; Velde, E.T. van der; Meijboom, F.J.; Pieper, P.G.; Dijk, A.P.J. van; Vliegen, H.W.; Grobbee, D.E.; Mulder, B.J.

    2010-01-01

    AIMS: Mortality in adults with congenital heart disease is known to be increased, yet its extent and the major mortality risks are unclear. METHODS AND RESULTS: The Dutch CONCOR national registry for adult congenital heart disease was linked to the national mortality registry. Cox's regression was

  10. [Orthopedic aspects of congenital insensitivity to pain].

    Science.gov (United States)

    Bronfen, C; Bensahel, H; Teule, J G

    1985-01-01

    The congenital insensitivity to pain regroups some rare diseases which are mainly 5: congenital insensitivity to pain; congenital sensitive neuropathies; distal sensitive neuropathies; Riley-Day syndrome or hereditary dysautonomia; at last, miscellaneous troubles. Three different cases are reported in children: true congenital insensitivity to pain; hereditary dysautonomia or Riley-Day syndrome; congenital insensitivity to pain localised to a lower limb joined to amniotic disease and abnormality of this limb. The orthopedic symptoms (osteomyelitis, arthropathies as Charcot type, dislocations, fractures) lead often to diagnosis and they are an important step of the prognosis. Scoliosis seems to be frequent in this disease. The orthopedic and surgical treatment, according to each localization, is difficult and must emphasize the prevention of bones and joints injuries.

  11. [Congenital malformations: care or predict?].

    Science.gov (United States)

    Pellerin, D

    1993-02-01

    Spectacular scientific and technological advances made in the last decade have had such a profound impact on biological and medical science that they have dramatically modified the citizen's behaviour concerning life events, especially congenital malformation. Prenatal diagnosis (PND) leads to do the diagnosis of almost all fetal internal and external malformations. The matter is, not only to care, but, first to know. The positive efficiency of PND is sometimes preparing the best cares and, of course, to recognize many severe anomalies postnatally diagnosed before PND time, and carrying wellknown 50% rate mortality by neo-natal surgery. Congenital diaphragmatic hernia is pointed out as a good example of it, and of hopes and disappointing in utero foetal surgery. New protocol of assessment of fetal renal function is an appreciated method to do prognosis of some fetal uropathies before late in utero drainage, for a short time waiting for necessary maturation of lungs allowing premature delivery. The possibility to do PND of small and benign malformation leads to ask for the question of utility of to know. In spite of the respect of quality of life, can we really allow this type of human selection to be made? The next knowledges of the human genoma map bring us into the predictive medicine. Using "compulsory" PND is a real risk to practice dangerously, a soft eugenism. PND must be, and remain an outstanding advance to provide better treatment.

  12. Ground-based multispectral measurements for airborne data verification in non-operating open pit mine "Kremikovtsi"

    Science.gov (United States)

    Borisova, Denitsa; Nikolov, Hristo; Petkov, Doyno

    2013-10-01

    The impact of mining industry and metal production on the environment is presented all over the world. In our research we set focus on the impact of already non-operating ferrous "Kremikovtsi"open pit mine and related waste dumps and tailings which we consider to be the major factor responsible for pollution of one densely populated region in Bulgaria. The approach adopted is based on correct estimation of the distribution of the iron oxides inside open pit mines and the neighboring regions those considered in this case to be the key issue for the ecological state assessment of soils, vegetation and water. For this study the foremost source of data are those of airborne origin and those combined with ground-based in-situ and laboratory acquired data were used for verification of the environmental variables and thus in process of assessment of the present environmental status influenced by previous mining activities. The percentage of iron content was selected as main indicator for presence of metal pollution since it could be reliably identified by multispectral data used in this study and also because the iron compounds are widely spread in the most of the minerals, rocks and soils. In our research the number of samples from every source (air, field, lab) was taken in the way to be statistically sound and confident. In order to establish relationship between the degree of pollution of the soil and mulspectral data 40 soil samples were collected during a field campaign in the study area together with GPS measurements for two types of laboratory measurements: the first one, chemical and mineralogical analysis and the second one, non-destructive spectroscopy. In this work for environmental variables verification over large areas mulspectral satellite data from Landsat instruments TM/ETM+ and from ALI/OLI (Operational Land Imager) were used. Ground-based (laboratory and in-situ) spectrometric measurements were performed using the designed and constructed in Remote

  13. Prevalence of Congenital Heart Diseases in Children with Congenital Hypothyroidism

    Directory of Open Access Journals (Sweden)

    Mohamed Abdel Megied Abo El-Magd

    2013-04-01

    Full Text Available The aim of the work was to assess the prevalence of cardiac anomalies in primary congenital hypothyroidism (PCH patients. Fifty patients with PCH recruited after diagnosis by ultrasonography or scintigraphy (64% Dysgenesis, 36% Dyshormonogenesis. The prevalence of cardiac anomalies was 18%, with renal anomalies being 8%. There was no significant difference in the longitudinal follow-up of growth and sexual maturation between a hypothyroid with and without anomalies. Statistically significant difference was found with replacement therapy of both groups. Hence, echocardiography should be done to screen this birth defect as soon as possible so as to prevent or delay the possible complications. [Arch Clin Exp Surg 2013; 2(2.000: 85-91

  14. Angiographic analysis of congenital mitral stenosis

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Kyung Soo; Yeon, Kyung Mo; Han, Man Chung [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1984-09-15

    Congenital mitral stenosis may be defined as a development abnormality of the mitral valve leaflets, commissures, interchordal spaces, papillary muscles, annulus or immediate supravalvular area producing obstruction to left ventricular filling. Authors had experience of nine case of congenital mitral stenosis confirmed by two dimensional echocardiography, angiocardiography and surgery in recent 5 years since 1979, and analyzed them with emphasis on the angiographic findings. The results are as follows: 1. Among 9 cases, 6 patients were male and 3 were female. Age distribution was from 4 month to 11 years. 2. The types of congenital mitral stenosis were 1 typical congenital mitral stenosis, 5 cases of parachute mitral valve and 3 cases of supramitral ring. 3. Angiographically typical congenital mitral stenosis showed narrowing of mitral valvular opening, parachute mitral valve displayed single large papillary muscle with narrowing valvular opening and supramitral ring disclosed semilunar shaped filling defect between left atrium and ventricle. 4. Associated cardiac and extracardiac anomalies of congenital mitral stenosis, as frequency wise, were ventricular septal defect, patent ductus arteriosus, coarctation of aorta, supra and subvalvular aortic stenosis, mitral regurgitation and double outlet right ventricle. 5. Cardiac angiography is essential to diagnose congenital mitral stenosis, but the need of two dimensional echocardiography cannot be ignored.

  15. Unilateral straight hair and congenital horner syndrome.

    Science.gov (United States)

    Wang, Frederick M; Wertenbaker, Christian; Cho, Hyung; Marmor, Maury A; Ahn-Lee, Sandra S; Bernard, Bruno A

    2012-06-01

    Congenital Horner syndrome is a rare disorder that accounts for less than 5% of all cases of Horner syndrome. Like Horner syndrome in general, it consists primarily of ptosis, miosis, and anhidrosis. Congenital Horner syndrome may manifest some special features such as iris heterochromia since the sympathetic nervous system is an essential component for the development and maintenance of eye color. We present 3 cases of unilateral straight hair in association with congenital Horner syndrome in which the patients had straight hair ipsilateral to the Horner syndrome, whereas on the contralateral side, it was curly, and we discuss possible mechanisms for this phenomenon.

  16. [Congenital hepatic fibrosis: apropos of 12 cases].

    Science.gov (United States)

    Murga, M L; Jara, P; Díaz, M C; de la Rubia, L; Arroba, M L; Larrauri, J; Vázquez, C

    1988-02-01

    Twelve patients with congenital hepatic fibrosis have been retrospectively studied and followed for 1 to 14 years. Clinical features, hepatic function tests and biopsy have been analyzed. Presence of portal hypertension and congenital malformation have been investigated. Clinical presentations varies from newborn to nine years of age without male or female predominance. Most frequent clinical form has been hypertensive type. Cholangitic type has worse prognosis. Familiar recurrence rate is 20%. Congenital malformations are associated in 92% most frequently infantile polycystic kidney disease. Hepatic biopsy has confirmed diagnosis in all patients.

  17. Right congenital pleuro-peritoneal hiatus hernia

    Directory of Open Access Journals (Sweden)

    Sankar DK

    2009-12-01

    Full Text Available Congenital diaphragmatic hernias are of various types which are due to the defect in the diaphragm and can be encountered in any period of life. Left mediastinal shift with right congenital diaphragmatic hernia is rare and life threatening malformation. We describe a case of right congenital diaphragmatic hernia of a newborn male infant, which died shortly after birth. The lobes of the liver were enlarged and occupied whole of the abdominal cavity. The stomach and intestinal loops were herniated into the right pleural cavity and partly into the left pleural cavity. Severe hypoplastic right lung, trilobed left lung and dextrocardia also were observed.

  18. The prevalence of congenital anomalies in Europe

    DEFF Research Database (Denmark)

    Dolk, Helen; Loane, Maria; Garne, Ester

    2010-01-01

    anomalies overwhelmingly concern children surviving the early neonatal period, who have important medical, social or educational needs. The prevalence of chromosomal anomalies was 3.6 per 1,000 births, contributing 28% of stillbirths/fetal deaths from 20 weeks gestation with congenital anomaly, and 48...... of 23.9 per 1,000 births for 2003-2007. 80% were livebirths. 2.5% of livebirths with congenital anomaly died in the first week of life. 2.0% were stillbirths or fetal deaths from 20 weeks gestation. 17.6% of all cases were terminations of pregnancy following prenatal diagnosis (TOPFA). Thus, congenital...

  19. [Sex differences in congenital heart disease].

    Science.gov (United States)

    Aubry, P; Demian, H

    2016-12-01

    Gender influences the clinical presentation and the management of some acquired cardiovascular diseases, such as coronary artery disease, resulting in different outcomes. Differences between women and men are also noticed in congenital heart disease. They are mainly related to the prevalence and severity of some congenital heart defects at birth, and in adulthood to the prognosis, incidence of Eisenmenger syndrome and risks of pregnancy. The role of gender on the risk of operative mortality of congenital heart surgery remains debated. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  20. Prognostic comparison of operative and non-operative therapies for intracerebral hemorrhage in a local hospital: Case retrospection

    Institute of Scientific and Technical Information of China (English)

    Deming Zhao; Zenghong Jiang; Bin Wang

    2006-01-01

    BACKGROUND: At present, it is satisfactory for micro-trauma craniopuncture therapy for cerebral hemor rhage to treat spontaneous intracerebral hemorrhage (ICH). Surgical treatment can decrease fatality rate of ICH patients; however, some reports suggest that there are no obvious differences of therapeutic effects between surgical treatment and medical therapy because of various states, operative indications, contraindi cations and operative styles.OBJECTIVE: To observe the effect of surgical treatment on ICH prognosis, especially on fatality rate. DESIGN: Retrospective-case study.SETTING: Huaibei People's Hospital. PARTICIPANTS: ① A total of 241 ICH patients selected from Huaibei People's Hospital from January 1988 to May 1989 were regarded as group A. They were all coincidence with Diagnostic Criteria of Intracerebral Hemorrhage in the National Cerebrovascular Disease Academic Meeting. There were 154 males and 87 females aged 34-94 years, and among them, 230 patients were older than 50 years (95.4%). Hemorrhage sites: Among 142 patients, 85 cases had internal capsule hemorrhage, 18 external capsule hemorrhage, 15 thalamic hemorrhage, 9 cerebellar hemorrhage, 7 brain stem hemorrhage, 7 cerebral lobe hemorrhage, and 1 corpus callosum hemorrhage. Hemorrhage volume: Among 89 clear records, 44 cases had of 1-10 mL, 35 of 11-30 mL, 5 of 31-40 mL, and 5 of 41-80 mL. Except 2 patients, other ones were treated with medical operation. ② A total of 203 ICH patients selected from the same hospital from January 2003 to December 2005 were regarded as group B. Among them, 72 cases were treated with operation, but other 131 ones were treated with non-operation. They were all diagnosed with CT. There were 113 males and 90 females aged 30-88 years, and among them, 183 patients were older than 50 years (90.1%). Hemorrhage sites: Among 203 patients, 104 cases had internal capsule hemorrhage, 17 external capsule hemorrhage, 19 thalamic hemorrhage, 9 cerebellar hemorrhage, 12 brain

  1. Congenital anomalies surveillance in Canada.

    Science.gov (United States)

    Lowry, R Brian

    2008-01-01

    Congenital anomalies (CA) are present in approximately 3% of all newborn babies and account for about 12% of paediatric hospital admissions. They represent an important public health problem. Surveillance is especially important so that preventive measures such as folic acid fortification can be properly assessed without resorting to a series of ad hoc studies. Canada's surveillance of CAs is weak, with only Alberta and British Columbia having established sytems. Most provinces have perinatal systems but their CA data are incomplete and they do not capture terminations of pregnancy. The same is true of the Public Health Agency of Canada's system. A new system, the Fetal Alert Network, has been proposed for Ontario, which represents a start but will require additional sources of ascertainment if it is to be a truly population-based system for Ontario.

  2. Congenital duplication of the gallbladder.

    Science.gov (United States)

    Safioleas, Michael C; Papavassiliou, Vassilios G; Moulakakis, Konstantinos G; Angouras, Dimitrios C; Skandalakis, Panagiotis

    2006-03-01

    Duplication of the gallbladder is a rare congenital anomaly of the biliary system. In this article, two cases of gallbladder duplication are presented. The first case is a patient with double gallbladder and concomitant choledocholithiasis. The probable diagnosis of double gallbladder was made preoperatively by computed tomography. The patient underwent a successful open cholecystectomy and common bile duct exploration. In the second case, two cystic formations in the place of gallbladder are demonstrated with ultrasound scan in a woman with acute cholecystitis. At surgery, two gallbladders were found. A brief review of epidemiology and anatomy of double gallbladder is included, along with a discussion of the difficulties in diagnosis and treatment of this condition.

  3. CONGENITAL SENSORY NEUROPATHY (HSAN II

    Directory of Open Access Journals (Sweden)

    Venkata Chalam

    2015-08-01

    Full Text Available A 5 year old girl having hereditary sensory neuropathy, type II manifesting as congenital absence of pain sensation and trophic changes in the skin is reported. This child presented with presented with multiple ulcers over hands and feet since 2 years of age. The ulcers were non - healing type with serosanguineous discharge. There is abnormal gait and weakness in upper and lower limbs. On examination there are deep ulcers measuring 5x7x2cms over left feet. Fingers of both hands and feet were mutilated with loss of phalanges, sensations to fine touch, pain and temperature are decreased bilaterally below the mid arm and feet, vibration sensations were normal, proprioception could not be tested due to deformities. Sensory and motor nerve conduction studies showed evidence of sensorimotor axonal neuropathy.

  4. Congenital epulis of the newborn

    Directory of Open Access Journals (Sweden)

    R Mahesh Kumar

    2015-01-01

    Full Text Available Congenital epulis, a benign tumor of the oral cavity, is an extremely rare condition in newborn. It may lead to mechanical obstruction, therefore resulting in respiratory distress and difficulty in feeding. Addressing the problem may need a multidisciplinary team approach at the time of birth. Antenatal ultrasonography and perinatal magnetic resonance imaging are an adjunct to treatment planning. Prenatal diagnosis remains difficult as the findings are nonspecific due to the late development of the tumor. Surgical excision is, therefore, the treatment of choice. Our report discusses this condition and the treatment thereafter on a newborn, with an epulis originating from the upper alveolar ridge discovered at birth. Histological examination confirmed the diagnosis of large polygonal granular cells. The mass was excised under general anesthesia, and the outcome was good after surgery allowing regular feeds on the second postoperative day.

  5. Imaging of congenital diaphragmatic hernias

    Energy Technology Data Exchange (ETDEWEB)

    Taylor, George A.; Estroff, Judy A. [Harvard Medical School, Department of Radiology, Children' s Hospital Boston, Boston, MA (United States); Atalabi, Omolola M. [Harvard Medical School, Department of Radiology, Children' s Hospital Boston, Boston, MA (United States); The College of Medicine/University College Hospital, Ibadan (Nigeria)

    2009-01-15

    Congenital diaphragmatic hernias are complex and life-threatening lesions that are not just anatomic defects of the diaphragm, but represent a complex set of physiologic derangements of the lung, the pulmonary vasculature, and related structures. Imaging plays an increasingly important role in the care of these infants. Prenatal sonography and MRI have allowed early and accurate identification of the defect and associated anomalies. These tools have also been the key to defining the degree of pulmonary hypoplasia and to predicting neonatal survival and need for aggressive respiratory rescue strategies. In the postnatal period, conventional radiography supplemented by cross-sectional imaging in selected cases can be very useful in sorting out the differential diagnosis of intrathoracic masses, in the detection of associated anomalies, and in the management of complications. Understanding the pathogenesis of diaphragmatic defects, the underlying physiologic disturbances, and the strengths and limitations of current imaging protocols is essential to the effective and accurate management of these complex patients. (orig.)

  6. X-linked congenital retinoschisis.

    Science.gov (United States)

    Kellner, U; Brümmer, S; Foerster, M H; Wessing, A

    1990-01-01

    The natural history and electrophysiological findings of 52 patients with X-linked congenital retinoschisis with a follow-up of up to 26 years are described. The mean visual acuity was reduced to 0.24 +/- 0.2 and remained unchanged in most patients during this time. If visual loss occurred, it usually happened in the first decennium. The complications were retinal detachments in 11% and vitreous hemorrhages in 4% of the eyes. In general, the vitreous hemorrhages resolved spontaneously. Retinal detachments were treated successfully with conventional buckling procedures. Redetachments occurred in about 40%. Prophylactic laser coagulation was of no use because it was complicated by detachment in 43% of our series. The electro-oculogram was usually normal. In addition to the known electrorentinographic findings of normal a-wave and reduced b-wave amplitudes, we found prolonged b-wave latencies and implicit times, as well as a reduced 30 Hz flicker response.

  7. Polymicrogyria and Congenital Parvovirus B19 Infection

    Directory of Open Access Journals (Sweden)

    Grant S. Schulert

    2011-12-01

    Full Text Available Fetal parvovirus B19 infection causes anemia, hydrops, and pregnancy loss but is generally not considered teratogenic. Nevertheless, disturbances of neuronal migration have been described with congenital parvovirus infection. We evaluated a term infant with congenital parvovirus disease and polymicrogyria. We compared this case with four other reports of central nervous system disease after birth to parvovirus-infected mothers. After an extensive diagnostic evaluation, this infant was found to have congenital parvovirus disease with severe anemia and nonimmune hydrops as well as extensive polymicrogyria. Although rare, this report and literature review suggest that parvovirus B19 has the potential to disrupt normal neurodevelopment. We suggest that infants with severe congenital parvovirus infection have close developmental surveillance and if symptomatic undergo neuroimaging to assess for disorders of neuromigration.

  8. Genetics Home Reference: congenital insensitivity to pain

    Science.gov (United States)

    ... have a complete loss of the sense of smell (anosmia). Congenital insensitivity to pain is considered a ... to cells that detect sensations such as touch, smell, and pain. Related Information What does it mean ...

  9. Congenital clinical malaria: Incidence, management and outcome ...

    African Journals Online (AJOL)

    ... were the admitted neonates to the emergency paediatric unit and the Special ... no mortality occurred in congenital clinical malaria, however, a diverse pattern of ... mothers of the importance of ante natal clinic visits for prescription of malaria ...

  10. Congenital asymmetric crying face: a case report

    Directory of Open Access Journals (Sweden)

    Semra Kara

    2011-12-01

    Full Text Available Congenital asymmetric crying face is an anomalia caused by unilateral absence or weakness of depressor anguli oris muscle The major finding of the disease is the absence or weakness in the outer and lower movement of the commissure during crying. The other expression muscles are normal and the face is symmetric at rest. The asymmetry in congenital asymmetric crying face is most evident during infancy but decreases by age. Congenital asymmetric crying face can be associated with cervicofacial, musclebone, respiratory, genitourinary and central nervous system anomalia. It is diagnosed by physical examination. This paper presents a six days old infant with Congenital asymmetric crying face and discusses the case in terms of diagnosis and disease features.

  11. Seasonality of congenital anomalies in Europe

    DEFF Research Database (Denmark)

    Luteijn, Johannes Michiel; Dolk, Helen; Addor, Marie-Claude;

    2014-01-01

    with influenza. RESULTS: We detected statistically significant seasonality in prevalence of anomalies previously associated with influenza, but the conception peak was in June (2.4% excess). We also detected seasonality in congenital cataract (April conceptions, 27%), hip dislocation and/or dysplasia (April, 12......%), congenital hydronephrosis (July, 12%), urinary defects (July, 5%), and situs inversus (December, 36%), but not for nonchromosomal anomalies combined, chromosomal anomalies combined, or other anomalies analyzed. CONCLUSION: We have confirmed previously described seasonality for congenital cataract and hip......BACKGROUND: This study describes seasonality of congenital anomalies in Europe to provide a baseline against which to assess the impact of specific time varying exposures such as the H1N1 pandemic influenza, and to provide a comprehensive and recent picture of seasonality and its possible relation...

  12. Genetics Home Reference: giant congenital melanocytic nevus

    Science.gov (United States)

    ... that is composed of pigment-producing cells called melanocytes . It is present from birth (congenital) or is ... is the presence of pigment-producing skin cells (melanocytes) in the tissue that covers the brain and ...

  13. Stroke Recurrence in Congenital Heart Disease

    OpenAIRE

    J Gordon Millichap

    2012-01-01

    Researchers at the Hospital for Sick Children, Toronto, Canada identified 135 patients with congenital heart disease diagnosed with arterial ischemic stroke during 1992-2008 and registered in the Canadian Pediatric Stroke Registry-Toronto site.

  14. Major congenital anomalies in a Danish region

    DEFF Research Database (Denmark)

    Garne, Ester; Hansen, Anne Vinkel; Birkelund, Anne Sofie;

    2014-01-01

    : diabetes, epilepsy, mental disorder, thyroid disease, asthma, or inflammatory bowel disease. Medication for these conditions accounted for 46% of maternal drug use. CONCLUSION: Maternal morbidity and use of potentially teratogenic medication have increased among congenital anomaly cases. Foetal and infant...

  15. Brain MRI Findings in Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2006-03-01

    Full Text Available Brain magnetic resonance imaging (MRI findings in 13 patients with congenital muscular dystrophy (MDCIC and Fukutin-related protein (FKRP gene mutations were retrospectively reviewed in a study at Hammersmith Hospital, London, UK, and European centers.

  16. Congenital microgastria and hypoplastic upper limb anomalies.

    Science.gov (United States)

    Lueder, G T; Fitz-James, A; Dowton, S B

    1989-03-01

    Six cases of congenital microgastria associated with limb anomalies are reviewed. The microgastria-hypoplastic upper limb association may arise as a result of aberrant mesodermal development in the 5th embryonic week.

  17. Congenital Heart Defects and Physical Activity

    Science.gov (United States)

    ... Thromboembolism Aortic Aneurysm More Congenital Heart Defects and Physical Activity Updated:Apr 19,2016 Exercise Is for Everyone ... almost all patients do some form of regular physical activity. There are a few exceptions, so it's good ...

  18. Case series: Congenital left ventricular diverticulum

    Directory of Open Access Journals (Sweden)

    Shah Dharita

    2010-01-01

    Full Text Available Congenital left ventricular diverticulum is a rare cardiac malformation characterized by a localized outpouching from the cardiac chamber. The patient is usually asymptomatic. However, complications like embolism, infective endocarditis, arrhythmia and, rarely, rupture can be the initial presentation. Diagnosis can be established by USG, echocardiography, CT angiography, and MRI. We report here two neonates with congenital left ventricular apical diverticulum associated with epigastric hernia.

  19. Congenital oesophageal hiatal hernia in a pug

    OpenAIRE

    Keeley B; Puggioni A; Pratschke K

    2008-01-01

    Abstract Congenital sliding, oesophageal or type I hiatal hernia was diagnosed in a five-month-old pug puppy presented for evaluation of dyspnoea post feeding. The diagnosis was confirmed using plain film radiography. Surgical reduction of the hernia followed by plication of the oesophageal hiatus, oesophagopexy and left flank gastropexy permitted restoration of normal function. At 12 months of age, the dog was asymptomatic. This article describes the diagnosis and treatment of a congenital t...

  20. Classic congenital adrenal hyperplasia: A delayed presentation

    OpenAIRE

    Aziz Siddiqui, Saima; Soomro, Nargis; Ganatra, Ashraf

    2013-01-01

    Congenital adrenal hyperplasia (CAH) is a rare congenital disorder, which in cases of female genotype may result in virilization. Specific enzyme deficiencies in adrenocorticoid hormones biosynthetic pathway lead to excess androgen production causing virilization. Classic type presents early in infant life as salt losing or simple virilizing type, whereas non classic form presents late at puberty or in adult life. Depending on the type of classic CAH, type of adrenocorticoid deficiency, exten...

  1. Congenital malalignment of the big toe nail.

    Science.gov (United States)

    Wagner, Gunnar; Sachse, Michael Max

    2012-05-01

    Congenital malalignment of the big toe nail is based on a lateral deviation of the nail plate. This longitudinal axis shift is due to a deviation of the nail matrix, possibly caused by increased traction of the hypertrophic extensor tendon of the hallux. Congenital malalignment of the big toe nail is typically present at birth. Ingrown toenails and onychogryphosis are among the most common complications. Depending on the degree of deviation, conservative or surgical treatment may be recommended.

  2. Congenital diseases of the gastrointestinal tract.

    Science.gov (United States)

    Lentze, M

    2014-05-01

    With the rapid increase in knowledge on the genetic origin of diseases within the gastrointestinal tract the number of congenital diseases, which already manifest during childhood have drastically increased. Due to the large application of molecular genetics the number is steadily increasing. To make the access to these rare diseases fast and efficient the data base of the National Library of Medicine (Online Mendelian Inheritance of Man - OMIN) is a very helpful online tool, with which all these disease entities can be found easily (http://www.ncbi.nlm.nih.gov/omim). Detailed tables are given to find most of the congenitally inherited disease, which affect the gastrointestinal tract. A variety of congenital diarrheas with disturbances of digestion, hydrolysis, absorption and secretion is described in detail: lactose intolerance, sucrose intolerance, glucose-galactose malabsorption, fructose malabsorption, trehalase and enterokinase deficiency, congenital chloride and sodium diarrhea, congenital hypomagnesaemia, primary bile acid malabsorption, acrodermatitis enteropathica and Menke's syndrome. Also described in detail are diseases with structural anomalies of the intestine like microvillous inclusion disease, congenital tufting enteropathy and IPEX syndrome. The diagnosis in the disturbances of carbohydrate hydrolysis or absorption can be established by H2-breath tests after appropriate sugar challenge. Treatment consists of elimination of the responsible sugar from the diet. The diagnosis of the congenital secretory diarrheas is established by investigation of electrolytes in blood and stool. Substitution of high doses of the responsible mineral can improve the clinical outcome. In acrodermatitis enteropathica low serum zinc level together with the typical skin lesions guide to the diagnosis. High doses of oral zinc aspartate can cure the symptoms of the disease. The diagnosis of structural congenital lesions of the intestine can be established by histology and

  3. Congenital Scaphoid Megalourethra: A Case Report

    Directory of Open Access Journals (Sweden)

    Kenji Obara

    2017-09-01

    Full Text Available A congenital megalourethra is an enlargement of the pendulous urethra without evidence of distal obstruction. A 1-month-old boy presented to us with complaint of weak stream, ballooning of the penis before and during voiding and post voiding dribbling, since birth. Physical examination and cystourethroscope confirmed the diagnosis of congenital scaphoid megalourethra. He underwent reduction urethroplasty. During postoperative follow up, he had normal looking penis with good urinary stream.

  4. CONGENITAL RADIAL DYSPLASIA: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Venkatram Reddy

    2015-08-01

    Full Text Available Congenital radial dysplasia, also referred to as radial club hand , means deficiency along the preaxial or radial side of the extremity. It ranges from hypoplasia of the thumb to variou s degrees of radial hypoplasia. We present one such rare case of type 4 congenital unilateral isolated radial dysplasia with carpel anomaly , reported to our department in SVS medical C ollege, Mahabubanagar, Telangana state

  5. Solitary ulcerated congenital giant juvenile xanthogranuloma

    Directory of Open Access Journals (Sweden)

    Su Yuen Ng

    2015-01-01

    Full Text Available A 3-month-old female patient with a giant ulcerated nodule over the back since birth was diagnosed as congenital giant juvenile xanthogranuloma (JXG based on clinical and histopathological examination. Congenital giant JXG with ulceration at birth is a rare presentation of JXG and commonly misdiagnosed. This case emphasizes the importance of being aware of the myriad presentations of JXG in order to make a correct diagnosis and avoid unnecessary investigations or treatment.

  6. ABNORMALITIES OF ERG IN CONGENITAL ANIRIDIA

    Institute of Scientific and Technical Information of China (English)

    1991-01-01

    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...

  7. Radiographic observation of congenital diaphragmatic hernia

    Energy Technology Data Exchange (ETDEWEB)

    Rhee, Chung Sik [Ewha Women' s University College of Medicine, Seoul (Korea, Republic of)

    1973-12-15

    Five cases of congenital diaphragmatic hernia. Case 1: A female infant, birth weight 2.25 kg, Apgar score 10, normal delivery at 11:33 P.M. on Feb.8, 1972. Lt side congenital diaphragmatic hernia. Case 2: A female infant, birth weight 1.48 kg, Apgar score 5, normal delivery at 11:20 A.M. on Oct.14, 1972. Lt. side congenital diaphragmatic hernia. This infant was twin. this infant's mother was toxemia. Case 3; A 33 years old women was admitted to the our hospital because of Lt.hip joint pain without other symptoms. Date of admission: Jan. 8, 1973. Rt side congenital diaphragmentic hernia. Case 4: A 4 month infant male was admitted to the our hospital because of vomiting, dyspnea and abdominal pain. He had cyanosis intermittently after one month ago. This infant was normal delivered. The family history was not contributory. Date of admission: This infant was normal delivered. The family history was not contributory. Date of admission: Aug. 30, 1971. Rt side congenital diaphragmatic hernia. Case 5: A 13 years old girl was admitted to our hospital because of general weakness without other symptoms. This patient was normal delivered. The family history was not contributory. Date of admission: March. 15, 1973. Lt. side congenital diaphragmentic hernia.

  8. [Aftereffects of congenital infections in infants].

    Science.gov (United States)

    Burdzenidze, E; Zhvania, M

    2006-12-01

    Congenital infections are among the most pressing health care problems. Congenital infections are not reason of congenital malformation and perinatal mortality only, but also pathologies that can be revealed during first year of life. Frequency for congenital viral infection displayed from birth varies between 23% and 92%. The aim of the study was the investigation of inherent infection consequences (citomegaloviral infection, herpes infection and chlamidia) in children in different age groups. Under our observation were 81 children with congenital infections. Among them 29 were with citomegaloviral infection, 17 with herpes infection; 15 chlamidia infection and 22 infections mix (citomegalovirus + herpes, citomegalovirus + chlamidia and chlamidia + herpes). In all observed children neurological simptomatic such as neuro-reflectory hyperexcitability syndrom, hypertension-hydrocephalic syndrom, musculary dystonia syndrom, hydrocephaly, retardation of psychomotor development etc. were present. After birth the worst prevalent are pathologies of cardiovascular system: functional cardiopathy, carditis, congenital heart disease (among them multivalvular disease), affection of hepatobilliar system, organs of vision and hearing etc are present also.

  9. Management of adolescents with congenital adrenal hyperplasia

    Science.gov (United States)

    Merke, Deborah P; Poppas, Dix P

    2014-01-01

    The management of congenital adrenal hyperplasia involves suppression of adrenal androgen production, in addition to treatment of adrenal insufficiency. Management of adolescents with congenital adrenal hyperplasia is especially challenging because changes in the hormonal milieu during puberty can lead to inadequate suppression of adrenal androgens, psychosocial issues often affect adherence to medical therapy, and sexual function plays a major part in adolescence and young adulthood. For these reasons, treatment regimen reassessment is indicated during adolescence. Patients with non-classic congenital adrenal hyperplasia require reassessment regarding the need for glucocorticoid drug treatment. No clinical trials have compared various regimens for classic congenital adrenal hyperplasia in adults, thus therapy is individualised and based on the prevention of adverse outcomes. Extensive patient education is key during transition from paediatric care to adult care and should include education of females with classic congenital adrenal hyperplasia regarding their genital anatomy and surgical history. Common issues for these patients include urinary incontinence, vaginal stenosis, clitoral pain, and cosmetic concerns; for males with classic congenital adrenal hyperplasia, common issues include testicular adrenal rest tumours. Transition from paediatric to adult care is most successful when phased over many years. Education of health-care providers on how to successfully transition patients is greatly needed. PMID:24622419

  10. Glaucoma after Congenital Cataract Surgery

    Directory of Open Access Journals (Sweden)

    Mahmoodreza Panahi Bazaz

    2014-05-01

    Full Text Available Purpose: To determine the incidence and risk factors associated with glaucoma following congenital cataract surgery (CCS in children under age of 15 Methods: This prospective cohort (since 2006 consisted of children less than 15 years of age who underwent cataract surgery with or without intraocular lens (IOL implantation. The role of the following factors on the development of glaucoma after CCS including age at surgery, gender, laterality of the cataract, IOL implantation, congenital ocular anomalies, intra- and postoperative complications, length of follow-up, central corneal thickness (CCT as well as the effect of the age of onset, time to development of glaucoma, and response to treatment were evaluated. Results: Overall, 161 eyes of 96 patients were included in this study of which 28 eyes developed glaucoma. Incidence of glaucoma was 17.4%. Mean±SD age at surgery was 9.3±6.9 (range, 1-24 months in glaucomatous and 40.4±41.1 (range, 1 m-13.6 year months in non-glaucomatous group (p<0.001. All glaucoma patients had the operation under two years of age. In group 1, 9 (60% and in group 2, 24 (30% patients were female (p=0.001. In group 1, 17 eyes (60.7% and in the group 2, 41 eyes (30.8% were aphakic (p=0.001. Mean time to diagnosis of glaucoma was 111.2 days (range 30-1200 days. Mean follow-up time was 3.1 years (range, 1-6 years. In 22 (78.6% eyes glaucoma was diagnosed within six months after surgery. Glaucoma was controlled with medications in 23 eyes (82% and with surgery in five eyes. Conclusion: In this study the incidence of glaucoma after CCS was 17.4% over a follow-up period of six years. Younger age at the time of lensectomy increases the risk of secondary glaucoma. IOL implantation may protect against glaucoma. Female gender was affected more than male.

  11. Personalised Hip Therapy: development of a non-operative protocol to treat femoroacetabular impingement syndrome in the FASHIoN randomised controlled trial.

    Science.gov (United States)

    Wall, Peter Dh; Dickenson, Edward J; Robinson, David; Hughes, Ivor; Realpe, Alba; Hobson, Rachel; Griffin, Damian R; Foster, Nadine E

    2016-10-01

    Femoroacetabular impingement (FAI) syndrome is increasingly recognised as a cause of hip pain. As part of the design of a randomised controlled trial (RCT) of arthroscopic surgery for FAI syndrome, we developed a protocol for non-operative care and evaluated its feasibility. In phase one, we developed a protocol for non-operative care for FAI in the UK National Health Service (NHS), through a process of systematic review and consensus gathering. In phase two, the protocol was tested in an internal pilot RCT for protocol adherence and adverse events. The final protocol, called Personalised Hip Therapy (PHT), consists of four core components led by physiotherapists: detailed patient assessment, education and advice, help with pain relief and an exercise-based programme that is individualised, supervised and progressed over time. PHT is delivered over 12-26 weeks in 6-10 physiotherapist-patient contacts, supplemented by a home exercise programme. In the pilot RCT, 42 patients were recruited and 21 randomised to PHT. Review of treatment case report forms, completed by physiotherapists, showed that 13 patients (62%) received treatment that had closely followed the PHT protocol. 13 patients reported some muscle soreness at 6 weeks, but there were no serious adverse events. PHT provides a structure for the non-operative care of FAI and offers guidance to clinicians and researchers in an evolving area with limited evidence. PHT was deliverable within the National Health Service, is safe, and now forms the comparator to arthroscopic surgery in the UK FASHIoN trial (ISRCTN64081839). ISRCTN 09754699. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  12. Personalised Hip Therapy: development of a non-operative protocol to treat femoroacetabular impingement syndrome in the FASHIoN randomised controlled trial

    Science.gov (United States)

    Wall, Peter DH; Dickenson, Edward J; Robinson, David; Hughes, Ivor; Realpe, Alba; Hobson, Rachel; Griffin, Damian R; Foster, Nadine E

    2016-01-01

    Introduction Femoroacetabular impingement (FAI) syndrome is increasingly recognised as a cause of hip pain. As part of the design of a randomised controlled trial (RCT) of arthroscopic surgery for FAI syndrome, we developed a protocol for non-operative care and evaluated its feasibility. Methods In phase one, we developed a protocol for non-operative care for FAI in the UK National Health Service (NHS), through a process of systematic review and consensus gathering. In phase two, the protocol was tested in an internal pilot RCT for protocol adherence and adverse events. Results The final protocol, called Personalised Hip Therapy (PHT), consists of four core components led by physiotherapists: detailed patient assessment, education and advice, help with pain relief and an exercise-based programme that is individualised, supervised and progressed over time. PHT is delivered over 12–26 weeks in 6–10 physiotherapist-patient contacts, supplemented by a home exercise programme. In the pilot RCT, 42 patients were recruited and 21 randomised to PHT. Review of treatment case report forms, completed by physiotherapists, showed that 13 patients (62%) received treatment that had closely followed the PHT protocol. 13 patients reported some muscle soreness at 6 weeks, but there were no serious adverse events. Conclusion PHT provides a structure for the non-operative care of FAI and offers guidance to clinicians and researchers in an evolving area with limited evidence. PHT was deliverable within the National Health Service, is safe, and now forms the comparator to arthroscopic surgery in the UK FASHIoN trial (ISRCTN64081839). Trial registration number ISRCTN 09754699. PMID:27629405

  13. Congenital cholesteatoma of the infratemporal fossa with congenital aural atresia and mastoiditis: a case report

    Directory of Open Access Journals (Sweden)

    Abdel-Aziz Mosaad

    2012-06-01

    Full Text Available Abstract Background Congenital cholesteatoma may be expected in abnormally developed ear, it may cause bony erosion of the middle ear cleft and extend to the infratemporal fossa. We present the first case of congenital cholesteatoma of the infratemporal fossa in a patient with congenital aural atresia that has been complicated with acute mastoiditis. Case presentation A sixteen year old Egyptian male patient presented with congenital cholesteatoma of the infratemporal fossa with congenital aural atresia complicated with acute mastoiditis. Two weeks earlier, the patient suffered pain necessitating hospital admission, magnetic resonance imaging revealed a soft tissue mass in the right infratemporal fossa. On presentation to our institute, Computerized tomography was done as a routine, it proved the diagnosis of mastoiditis, pure tone audiometry showed an air-bone gap of 60 dB. Cortical mastoidectomy was done for treatment of mastoiditis, removal of congenital cholesteatoma was carried out with reconstruction of external auditory canal. Follow-up of the patient for 2 years and 3 months showed a patent, infection free external auditory canal with an air-bone gap has been reduced to 35db. One year after the operation; MRI was done and it showed no residual or recurrent cholesteatoma. Conclusions Congenital cholesteatoma of the infratemporal fossa in cases of congenital aural atresia can be managed safely even if it was associated with mastoiditis. It is an original case report of interest to the speciality of otolaryngology.

  14. Outcome Study of Non-operative Treatment for Knee Osteoarthritis in Middle-aged Patients With Reference to the Body Mass Index—A Randomised Prospective Study

    Directory of Open Access Journals (Sweden)

    Cheong Peng Meng

    2011-06-01

    Full Text Available From the year 2006 to 2008, 69 patients of symptomatic osteoarthritis of the knees were divided randomly and entered into three non-operative treatment protocols. It included 4 weeks of pharmacological treatment followed by 4 weeks of specific treatments (physiotherapy, acupuncture, and combined. The pretreatment and post-treatment physical and functional statuses were evaluated. Their body mass index (BMI was measured. The patients with below-normal BMI did not benefit from all the three treatment protocols. However, all other groups of increased BMI did benefit from all three treatment protocols in terms of pain score, analgesic sparing, and knee scores.

  15. Congenital contractural arachnodactyly (Beals syndrome

    Directory of Open Access Journals (Sweden)

    Alanay Yasemin

    2006-06-01

    Full Text Available Abstract Congenital contractural arachnodactyly (Beals syndrome is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. It is caused by a mutation in FBN2 gene on chromosome 5q23. Although the clinical features can be similar to Marfan syndrome (MFS, multiple joint contractures (especially elbow, knee and finger joints, and crumpled ears in the absence of significant aortic root dilatation are characteristic of Beals syndrome and rarely found in Marfan syndrome. The incidence of CCA is unknown and its prevalence is difficult to estimate considering the overlap in phenotype with MFS; the number of patients reported has increased following the identification of FBN2 mutation. Molecular prenatal diagnosis is possible. Ultrasound imaging may be used to demonstrate joint contractures and hypokinesia in suspected cases. Management of children with CCA is symptomatic. Spontaneous improvement in camptodactyly and contractures is observed but residual camptodactyly always remains. Early intervention for scoliosis can prevent morbidity later in life. Cardiac evaluation and ophthalmologic evaluations are recommended.

  16. [Congenital muscular dystrophies in children].

    Science.gov (United States)

    Scavone-Mauro, Cristina; Barros, Graciela

    2013-09-06

    From the clinical and genetic point of view, congenital muscular dystrophies (CMD) are a heterogenic group of diseases within neuromuscular pathologies. The best known forms are: merosin deficiency CMD, collagen VI deficiency CMD, LMNA-related CMD, selenoprotein-related CMD (SEPN1) and alpha-dystroglycan-related CMD. They present with a broad spectrum of clinical phenotypes. Most of them are transmitted by recessive autosomal inheritance. The initial manifestations very often begin in infancy or in the neonatal period. There are clinical suspicions of the existence of hypotonia and paresis, and they are characterised by a dystrophic pattern in the muscular biopsy (muscle replaced by fibroadipose tissue, with necrosis and cell regeneration). Advances in the understanding of the molecular pathogenesis of CMD have made it possible to make further progress in the classification of the different subtypes. The aim of this review is to comment on the advances made in recent years as regards the classification of CMD in terms of genetics, the proteins involved and their clinical presentation.

  17. Congenital sacrococcygeal PNET and chemotherapy

    Directory of Open Access Journals (Sweden)

    Colin Patrick Hawkes

    2012-01-01

    Full Text Available We present the case of a congenital localised sacrococcygeal primitive neuroectodermal tumor treated aggressively with surgical resection and modified age-appropriate adjuvant chemotherapy. The conventional combination chemotherapy of vincristine, adriamycin, cyclophosphamide, ifosfamide and etoposide was modified to a regimen including vincristine, adriamicin, cyclophosphamide and actinomycin in order to minimise the predicted toxicity in this age group. Adjuvant "induction" chemotherapy commenced at 4 weeks of age and consisted of four cycles of vincristine, adriamycin and cyclophosphamide at 50%, 75%, 75% and 100% of recommended doses (vincristine 0.05 mg/kg, adriamycin 0.83 mg/kg daily × 2, cyclophosphamide 40 mg/kg at 3-weekly intervals. This was followed by four cycles of "maintenance" chemotherapy with vincristine (0.025 mg/kg, actinomycin (0.025 mg/kg and cyclophosphamide (36 mg/kg at full recommended doses. Cardioxane at a dose of 16.6 mg/kg was infused immediately prior to the adriamycin. Our patient is thriving at 19 months out from end of treatment.

  18. Congenital prosopagnosia: A case report

    Directory of Open Access Journals (Sweden)

    Rodrigo Rizek Schultz

    Full Text Available Abstract Prosopagnosia is a visual agnosia characterized by an inability to recognize previously known human faces and to learn new faces. The aim of this study was to present a forty-six year-old woman with congenital prosopagnosia, and to discuss the neural bases of perception and recognition of faces. The patients had a lifetime impairment in recognizing faces of family members, close friends, and even her own face in photos. She also had impairment in recognizing animals such as discriminating between cats and dogs. The patient's basic visual skills showed impairment in identifying and recognizing the animal form perception on the coding subtest of the WAIS-R, recognizing overlapping pictures (Luria, and in identifying silhouettes depicting animals and objects (VOSP. Unconventional tests using pictures evidenced impairment in her capacity to identify famous faces, facial emotions and animals. Her face perception abilities were preserved, but recognition could not take place. Therefore, it appears that the agnosia in this case best fits the group of categories termed "associative".

  19. Diagnosis of congenital fibrinogen disorders.

    Science.gov (United States)

    Lebreton, Aurélien; Casini, Alessandro

    2016-08-01

    Congenital fibrinogen disorders comprise quantitative disorders defined by a complete absence (afibrinogenemia) or by a decreased level (hypofibrinogenemia) of circulating fibrinogen and qualitative disorders characterized by a discrepancy between the activity and the antigenic levels of fibrinogen (dysfibrinogenemia and hypodysfibrinogenemia). The biological diagnosis is based on a standard haemostasis assessment. All the coagulation tests that depend on the formation of fibrin as the end point are affected; although in dysfibrinogenemia the specificity and sensitivity of routine test depend on reagent and techniques. A genetic exploration permits to confirm the diagnosis and may enhance the prediction of the patient's phenotype. Homozygous or composite heterozygous null mutations are most often responsible for afibrinogenemia while hypofibrinogenemic patients are mainly heterozygous carrier of an afibrinogenemic allele. Heterozygous missense mutations are prevalent in dysfibrinogenemia, with two hot spot localized in exon 2 of the FGA and in the exon 8 of the FGG. The correlation between phenotype and genotype has been identified in some fibrinogen variants, including six mutations clustered in exons 8 and 9 of the FGG leading to hypofibrinogenemia with hepatic inclusions of abnormal fibrinogen aggregates as well as a few mutations associated with an increase risk of thrombotic events. A familial screening and additional functional assays should be carried out when possible.

  20. Microtia and congenital aural atresia.

    Science.gov (United States)

    Genc, Selahattin; Kahraman, Erkan; Ozel, Halil Erdem; Arslan, Ilker Burak; Demir, Ahmet; Selcuk, Adin

    2012-11-01

    The purpose of this study was to show the clinical characteristics of microtia and congenital aural atresia cases in Turkey and to make the classification. For this purpose, records of 28 patients with microtia who were admitted to the ENT Clinic of Eskisehir Military Hospital, Turkey, between 1995 and 2011 and 3 patients admitted to the ENT outpatient clinic of Kocaeli Derince Education and Research Hospital, Turkey, were analyzed retrospectively. Of the total 31 patients with microtia (35 microtic ears), involvement of the right ear of 20 patients (64.5%), the left ear of 7 patients (22.5%), and bilateral involvement in 4 patients (12.9%) were observed. There was a unilateral involvement in 27 patients (87.1%). According to the Marx grading, 2 patients (5.7%) had grade 1 malformation, 3 (8.6%) had grade 2 malformation, 29 (82.9%) had grade 3 malformation, and 1 (2.9%) had grade 4 malformation (anotia). Although the characteristics of microtia vary in different population, the results in Turkey are consistent with those in the literature.

  1. Congenital abnormalities in methylmercury poisoning

    Energy Technology Data Exchange (ETDEWEB)

    Gilani, S.H.

    1975-04-01

    This study was undertaken to determine the teratogenic potential of methylmercury on chick embryogenesis. Methylmercuric chloride was dissolved in sodium bicarbonate (0.2%) and administered to the chick embryos at doses ranging from 0.0009 to 0.010 mg per egg. The injections were made at days 2 and 3 on incubation (Groups A and B). All the embryos including controls were examined on the 7th day of incubation. Methylmercury poisoning was observed to be both embryolethal and teratogenic. Within the two groups, embryolethality was higher in Group A. The following congenital abnormalities were observed: exencephaly, shortened and twisted limbs, microphthalmia, shortened and twisted neck, beak abnormalities, everted viscera, reduced body size and hemorrhage all over the body. Exencephaly and limb abnormalities were very common. No differences in the incidence and types of gross abnormalities within both the groups (A and B) were noted. The incidence of malformations among the controls was low. The results of present investigation show that methylmercury poisoning is both embryolethal and teratogenic to early chick embryogenesis. (auth)

  2. Symptoms of Autism Among Children with Congenital Deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2014-01-01

    Associations between congenital deafness or blindness and autism have been found. The main consequences of congenital sensory impairment, being barriers for communication, language and social interaction development, may lead to symptoms of autism. To date only few studies have been reported...... concerning individuals with congenital deafblindness. This study examines symptoms of autism among 71 children with congenital deafblindness using the Autism Behavior Checklist. The cohort of children with congenital deafblindness was found to have symptoms of autism on a level similar to children...... with another developmental disorder than autism for example intellectual disability. No association was found between severity of congenital sensory impairment and severity or type of symptoms of autism....

  3. Angiographic features of rapidly involuting congenital hemangioma (RICH)

    Energy Technology Data Exchange (ETDEWEB)

    Konez, Orhan; Burrows, Patricia E. [Department of Radiology, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Mulliken, John B. [Division of Plastic Surgery, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Fishman, Steven J. [Department of Pediatric Surgery, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Kozakewich, Harry P.W. [Department of Pathology, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States)

    2003-01-01

    Rapidly involuting congenital hemangioma (RICH) is a recently recognized entity in which the vascular tumor is fully developed at birth and undergoes rapid involution. Angiographic findings in two infants with congenital hemangioma are reported and compared with a more common postnatal infantile hemangioma and a congenital infantile fibrosarcoma. Congenital hemangiomas differed from infantile hemangiomas angiographically by inhomogeneous parenchymal staining, large and irregular feeding arteries in disorganized patterns, arterial aneurysms, direct arteriovenous shunts, and intravascular thrombi. Both infants had clinical evidence of a high-output cardiac failure and intralesional bleeding. This congenital high-flow vascular tumor is difficult to distinguish angiographically from arteriovenous malformation and congenital infantile fibrosarcoma. (orig.)

  4. Congenital tumors of the central nervous system

    Energy Technology Data Exchange (ETDEWEB)

    Severino, Mariasavina [G. Gaslini Children' s Hospital, Department of Neuroradiology, Genoa (Italy); Schwartz, Erin S. [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); Thurnher, Majda M. [Medical University of Vienna, Department of Radiology, Vienna (Austria); Rydland, Jana [MR Center, St. Olav' s Hospital HF, Trondheim (Norway); Nikas, Ioannis [Agia Sophia Children' s Hospital, Imaging Department, Athens (Greece); Rossi, Andrea [G. Gaslini Children' s Hospital, Department of Neuroradiology, Genoa (Italy); G. Gaslini Children' s Hospital, Department of Pediatric Neuroradiology, Genoa (Italy)

    2010-06-15

    Congenital tumors of the central nervous system (CNS) are often arbitrarily divided into ''definitely congenital'' (present or producing symptoms at birth), ''probably congenital'' (present or producing symptoms within the first week of life), and ''possibly congenital'' (present or producing symptoms within the first 6 months of life). They represent less than 2% of all childhood brain tumors. The clinical features of newborns include an enlarged head circumference, associated hydrocephalus, and asymmetric skull growth. At birth, a large head or a tense fontanel is the presenting sign in up to 85% of patients. Neurological symptoms as initial symptoms are comparatively rare. The prenatal diagnosis of congenital CNS tumors, while based on ultrasonography, has significantly benefited from the introduction of prenatal magnetic resonance imaging studies. Teratomas constitute about one third to one half of these tumors and are the most common neonatal brain tumor. They are often immature because of primitive neural elements and, rarely, a component of mixed malignant germ cell tumors. Other tumors include astrocytomas, choroid plexus papilloma, primitive neuroectodermal tumors, atypical teratoid/rhabdoid tumors, and medulloblastomas. Less common histologies include craniopharyngiomas and ependymomas. There is a strong predilection for supratentorial locations, different from tumors of infants and children. Differential diagnoses include spontaneous intracranial hemorrhage that can occur in the presence of coagulation factor deficiency or underlying vascular malformations, and congenital brain malformations, especially giant heterotopia. The prognosis for patients with congenital tumors is generally poor, usually because of the massive size of the tumor. However, tumors can be resected successfully if they are small and favorably located. The most favorable outcomes are achieved with choroid plexus tumors

  5. Molecular genetics of congenital nuclear cataract.

    Science.gov (United States)

    Deng, Hao; Yuan, Lamei

    2014-02-01

    A cataract is defined as opacification of the normally transparent crystalline lens. Congenital cataract (CC) is a type of cataract that presents at birth or during early childhood. CC is one of the most common causes of visual impairment or blindness in children worldwide. Approximately 50% of all CC cases may have a genetic cause which is quite heterogeneous. CC occurs in a variety of morphologic configurations, including polar/subcapsular, nuclear, lamellar, sutural, cortical, membranous/capsular and complete. Nuclear cataract refers to the opacification limited to the embryonic and/or fetal nuclei of the lens. Although congenital nuclear cataract can be caused by multiple factors, genetic mutation remains to be the most common cause. It can be inherited in one of the three patterns: autosomal dominant, autosomal recessive, or X-linked transmission. Autosomal dominant inheritance is the most frequent mode with high penetrance. There may be no obvious correlation between the genotype and phenotype of congenital nuclear cataract. Animal models have been established to study the pathogenesis of congenital nuclear cataract and to identify candidate genes. In this review, we highlight identified genetic mutations that account for congenital nuclear cataract. Our review may be helpful for genetic counseling and prenatal diagnosis.

  6. Congenital scoliosis: an up-to-date.

    Science.gov (United States)

    Burnei, G; Gavriliu, S; Vlad, C; Georgescu, I; Ghita, R A; Dughilă, C; Japie, E M; Onilă, A

    2015-01-01

    Congenital scoliosis represents a spinal malformation due to defects of formation, segmentation or mixed ones. It is characterized by a longitudinal and rotational imbalance. 54 patients were analyzed and 39 out of them were operated by various approaches with anterior and posterior instrumentations during 2000 and 2012. The impossibility to appoint some patients encountered in the daily practice into the known classifications, allowed us to purpose two categories of congenital scoliosis related to the predominance of spinal deviances in the coronal and transversal views. No certain etiology of congenital scoliosis has been identified until today. The susceptibility of some polygenic defects is obvious due to the presence of a sum of defects associated to most of the congenital scoliosis cases and the rarity of the presence of a unique defect. The diagnosis requires a thorough clinical and imaging examination in order to establish an individualized therapeutic strategy. The treatment of congenital scoliosis is different from the adolescent idiopathic one. Therapeutic criteria are significantly different. It is essential to assess the difference in growth of the concavity related to the convexity when choosing a particular procedure. The magnitude of the curve and the progressive rate are fundamental issues to the surgeon.

  7. Characterization of Live Birth with Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Carlos Acosta Batista

    2015-06-01

    Full Text Available Background: the congenital malformations constitute the first cause of infantile death in developed countries, as well as the second cause of death in Cuba, in younger children of an elderly year. Objective: characterizing the live birth newborns with congenital malformations at Marianao municipality during the year 2011. Methods: descriptive, cross-section study of 30- live birth with congenital malformations at Marianao municipality in Havana, during the year 2011. Some of analyzed variables were: sex, affected system, congenital malformation, type of malformation, severity, birth weight, gestational age, prenatal diagnosis, family history of congenital malformation, maternal age, among others. Results: the masculine sex was the more affected, with 18 cases that represented the 60 %. The Polydactyl was the malformation further frequent, with 23.3 %, followed by the pre-aural appendix, with 10 %. The 20 % was born pre-term and only in the 10 % of the cases was obtained a positive result in the tests of prenatal diagnosis. Conclusions: the live birth with MC were characterized to be males with isolated MC and less severe, full term, normopeso, without family history of the aforementioned affection and with a negative prenatal diagnosis. The majority of mothers belonged to 20-35's age group years, they suffered from hypertension and during pregnancy, the principal diseases that they presented were the sepsis and anemia.

  8. [Molecular-genetic aspects of congenital hypothyroidism].

    Science.gov (United States)

    Lacka, Katarzyna; Ogrodowicz, Agnieszka

    2004-01-01

    Congenital hypothyroidism manifests a complex of symptoms caused by a total lack or significant deficiency of thyroxine (T4) and triiodothyronine (T3) in foetal life and in the first years of child's life. The incidence of congenital hypothyroidism is 1 per 3000-4000 newborns in the world and l per 4800 in Poland. There are two main causes of congenital hypothyroidism: defects of thyroid development (about 90%), defects of thyroid hormones biosynthesis (~10%), and the more seldom occurring defects of the TBG proteins (thyroxine binding globulin) or resistance. syndrome to thyroid hormones. Defects of thyroid gland development include ectopia, hypoplasia or complete lack of the thyroid (athyreosis). These defects are caused by immunological, factors, drugs as well as genetic factors such as: TSH receptor gene or thyroid transcription factors: PAX 8. TTF l, TTF 2, Pit 1, Prop 1. Defects of thyroid hormones biosynthesis are inherited as autosomal recessive. There are 5 main defects of thyroid hormones biosynthesis: iodide transport (mutation of hNIS gene), iodine oxygenation (mutation of TPO, THOX, PDS genes), the iodination of the tyrosine of thyroglobulin and their conjunction (the mutation of TPO TG, PDS genes), the hydrolysis of the T3 and T4 as well as deiodination. Searching molecular-genetic basis of congenital hypothyroidism may improve its diagnostics, make possible to introduce genetic examination among patients with congenital hypothyroidism and their family members and may make gene therapy possible in the future.

  9. Congenital rubella syndrome in Iran

    Directory of Open Access Journals (Sweden)

    Eftekhar Hasan

    2005-06-01

    Full Text Available Abstract Background Congenital rubella syndrome (CRS can be prevented with appropriate vaccination programs. The prevalence rates of rubella and CRS in Iran are unknown; therefore, the risk of exposure in pregnant women is not clear. The prevalence of CRS in the pre-vaccine period can be estimated by evaluating the proportion of children in the population with sensorineural hearing loss attributable to rubella. Methods This was a case-control study to estimate prevalence of CRS in Tehran (Iran by evaluating the proportion of children with sensorineural hearing loss attributable to rubella. The study used rubella antibody titer as an indicator, and compared the prevalence of rubella antibody between children with and without sensorineural hearing loss. Using these findings, the proportion of cases of sensorineural hearing loss attributable to rubella was estimated. Results A total of 225 children aged 1 to 4 years were entered into the study (113 cases and 112 controls. There was a significant difference between cases and controls with regard to rubella antibody seropositivity (19.5% vs. 8.9%, respectively, odds ratio = 2.47, 95% CI = 1.04–5.97. The proportion of sensorineural hearing loss cases attributable to rubella was found to be 12%, corresponding to a CRS prevalence of 0.2/1000. Conclusion The prevalence of CRS was approximately 0.2/1000 before rubella vaccination in Iran, Moreover; the results suggest that implementation of appropriate rubella vaccination programs could potentially prevent about 12% of cases of sensorineural hearing loss in Iranian children. This data could potentially be used as baseline data, which in conjunction with an appropriate method, to establish a surveillance system for rubella vaccination in Iran. An appropriate surveillance system is needed, because the introduction of a rubella vaccine without epidemiological data and an adequate monitoring program could result in the shifting of rubella cases to higher

  10. What Are the Treatments for Congenital Adrenal Hyperplasia (CAH)?

    Science.gov (United States)

    ... Publications What are the treatments for congenital adrenal hyperplasia (CAH)? Skip sharing on social media links Share ... sees many CAH cases. 6 The Congenital Adrenal Hyperplasia Research, Education & Support (CARES) Foundation strongly recommends delaying ...

  11. Phase-contrast MRI and applications in congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Goldberg, A., E-mail: adgoldberg@geisinger.edu [Department of Radiology, Geisinger Health System, Danville, PA (United States); Jha, S. [Department of Radiology, Hospital of the University of Pennsylvania, Philadelphia, PA (United States)

    2012-05-15

    A review of phase-contrast magnetic resonance imaging techniques, with specific application to congenital heart disease, is presented. Theory, pitfalls, advantages, and specific examples of multiple, well-described congenital heart disease presentations are discussed.

  12. A systematic review of trends and patterns of congenital heart ...

    African Journals Online (AJOL)

    lists of selected articles for studies on patterns of congenital heart disease among children in Nigeria between 1964 and .... diagnosis, number of cases of congenital heart diseases ..... of 6% increase in the burden of VSD for every time pe-.

  13. Congenital Rickets: Report of Four Cases

    Directory of Open Access Journals (Sweden)

    R Vakili

    2014-04-01

    Full Text Available Introduction: Vitamin D deficiency and rickets continue to be health problems in developing countries and most of the infants with congenital rickets may present with hypocalcemic seizure.   Case Report: In this article, the report on four infants who presented with hypocalcemic seizures but subsequently were found to have congenital rickets is presented. All of them had hypocalcaemia and low level of serum 25- hydroxy vitamin D. Their mothers had not received vitamin D supplementation during pregnancy and so evidence of vitamin D deficiency was presented.   Conclusion: Although current vitamin D supplementation guidelines for infants was effective in prevention of rickets in Iranian children, it is necessary to evaluate women before pregnancy to prevent this entity. Also infants without vitamin D supplementation therapy who present with seizures during the first 6 months of age should undergo biochemical and other investigations for rickets.   Keywords:Congenital rickets, Vitamin D deficiency, Hypocalcemia, Seizure.  

  14. Varied presentations of early congenital syphilis.

    Science.gov (United States)

    Basu, Sriparna; Kumar, Ashok

    2013-06-01

    In spite of availability of cost-effective preventive measures and treatment, a resurgence of congenital syphilis has currently been noted. During the past 4 years, we came across five low birth weight neonates with unusual symptoms, which subsequently proved to be manifestations of early congenital syphilis. All the mothers had apparently uneventful antenatal period. No investigation was done during pregnancy. They were unaware about their disease and were found to be positive for syphilis by Venereal Disease Research Laboratory Test and fluorescent treponemal antibody (absorbed) IgM test only after childbirth. Screening for other congenital infections was negative. All the neonates were positive for Venereal Disease Research Laboratory Test. They were treated with intravenous crystalline penicillin G for 10 days. Recovery was uneventful. We reemphasize the importance of raising public awareness, routine antenatal screening and treatment for all pregnant mothers to avoid such a potentially treatable condition.

  15. Anticoagulation in adults with congenital heart disease

    DEFF Research Database (Denmark)

    Jensen, A S; Idorn, L; Nørager, B

    2015-01-01

    Adults with congenital heart disease are a growing population. One of the major challenges in the care of these patients is to prevent thromboembolic episodes. Despite relative young age and no typical cardiovascular risk factors, this cohort has a high prevalence of thrombotic events....... It is difficult to use treatment algorithms from the general adult population with acquired heart disease in this heterogeneous population due to special conditions such as myocardial scarring after previous surgery, atypical atrial flutter, prothrombotic conditions and the presence of interatrial shunts....... Furthermore, there is a lack of scientific evidence regarding how to prevent thromboembolic events with anticoagulation in adults with congenital heart disease. The aim of this paper is to review the current literature pertaining to anticoagulation in adults with congenital heart disease and hence enable...

  16. Surgical Treatment of Congenital Mitral Valve Dysplasia.

    Science.gov (United States)

    Vida, Vladimiro L; Carrozzini, Massimiliano; Padalino, Massimo; Milanesi, Ornella; Stellin, Giovanni

    2016-05-01

    Congenital mitral valve (MV) dysplasia is a relatively rare and highly complex cardiac disease. We present our results and illustrate the techniques used to repair these valves. Between 1972 and 2014, 100 consecutive patients underwent surgical repair of congenital MV dysplasia at our institution. Predominant MV regurgitation was present in 53 patients (53%) whereas mitral stenosis was prevalent in 47 (47%). There were five early (5%) and eight late deaths (9%). Actuarial survival was 95%, 94%, and 93% at 5, 10, and 20 years, respectively. Sixteen patients (18%) required reintervention due to subsequent MV dysfunction. Actuarial freedom from reintervention for MV dysfunction was 95%, 92%, and 89% at 5, 10, and 20 years, respectively. The mechanism underlying the valve dysfunction in congenital mitral valve dysplasia is multifactorial and requires the application of a variety of surgical techniques for repair. doi: 10.1111/jocs.12743 (J Card Surg 2016;31:352-356). © 2016 Wiley Periodicals, Inc.

  17. Adult congenital heart disease and pregnancy.

    Science.gov (United States)

    Rao, Shaline; Ginns, Jonathan N

    2014-08-01

    Adults with congenital heart disease now form the largest group of women with cardiac disease becoming pregnant in the developed world. This is both a mark of impressive steps forward in the management of congenital heart disease and also a challenge to the medical community to develop systems of care that will best serve these women and their babies. Each woman with congenital heart disease presents a unique pattern of challenges for the cardiologist, obstetrician, and anesthesiologist, and their care should be tailored to deal with their individual circumstances. As this population of patients continues to grow, we must continue to learn and improve our diagnostic tools and management strategies to refine their care. This review intends to focus on reviewing the outcomes in this set of patients and also an approach to the assessment and the management of these patients, primarily for an audience of obstetricians, pediatricians, and anesthesiologists. Copyright © 2014 Elsevier Inc. All rights reserved.

  18. Epidemiology of congenital diaphragmatic hernia in Europe

    DEFF Research Database (Denmark)

    McGivern, Mark R.; Best, Kate E.; Rankin, Judith

    2015-01-01

    reported among 12 155 491 registered births. Of 3131 singleton cases, 353 (10.4%) were associated with a chromosomal anomaly, genetic syndrome or microdeletion, 784 (28.2%) were associated with other major structural anomalies. The male to female ratio of CDH cases overall was 1:0.69. Total prevalence......INTRODUCTION: Published prevalence rates of congenital diaphragmatic hernia (CDH) vary. This study aims to describe the epidemiology of CDH using data from high-quality, population-based registers belonging to the European Surveillance of Congenital Anomalies (EUROCAT). METHODS: Cases of CDH...... for isolated cases (ie, CDH cases that did not occur with any other congenital anomaly). There was significant variation in total and isolated CDH prevalence between registers. The proportion of cases that survived to 1 week was 69.3% (1392 cases) for total CDH cases and 72.7% (1107) for isolated cases...

  19. Congenital complete and partial absence of the left pericardium.

    Science.gov (United States)

    Jurko, Alexander; Minarik, Milan; Cisarikova, Viera; Polacek, Hubert; Schusterova, Ingrid

    2013-09-01

    Congenital absence of pericardium is a rare malformation. We report 2 young patients with a diagnosis of congenital absence of the pericardium. The posteroanterior view of the chest X-ray showed displacement of the left cardiac border into the left hemithorax. Unusual acoustical windows and abnormal cardiac and septal motion during echocardiography suggested the diagnosis of congenital absence of pericardium. Magnetic resonance imaging definitive confirmed diagnosis of congenital absence of pericardium.

  20. Computed tomography of common congenital lesions of the temporal bone

    Energy Technology Data Exchange (ETDEWEB)

    Yuen, H.Y. E-mail: drhyyuen@doctors.org.uk; Ahuja, A.T.; Wong, K.T.; Yue, V.; Hasselt, A.C. van

    2003-09-01

    This pictorial review describes the application of high-resolution computed tomography to the investigation and pre-operative work-up of the common lesions of congenital hearing loss, including congenital aural dysplasia, various congenital ossicular anomalies, inner ear dysmorphology, large vestibular aqueduct syndrome, and congenital absence of cochlear nerve and labyrinthitis ossificans from previous infection. The aim is to help radiologists to provide a more accurate diagnosis of underlying aetiology and assist in surgical planning.

  1. Congenital chylothorax in newborn with trisomy 21.

    Science.gov (United States)

    Lomauri, Kh

    2014-11-01

    Neonatal chylothorax results from the accumulation of chyle in the pleural space and may be either congenital or an acquired condition. Congenital chylothorax is most likely due to abnormal development or obstruction of the lymphatic system. It is often associated with hydrops fetalis. It can be idiopathic or may be associated with various chromosomal anomalies including Trisomy 21, Turner syndrome, Noonan syndrome, and other genetic abnormalities. Congenital pulmonary lymphangiectasia and generalized lymphangiomatosis have also been reported to be associated with congenital chylothorax. Several case reports indicate that congenital chylothorax can recur in subsequent offspring, suggesting a possible underlying genetic etiology. It is important to identify infants with chylothorax, as there are specific issues that need to be addressed in the management of these patients. We present a case of newborn with trysomy 21 (trisomy 21 was diagnosed antenatally by amniocentesis with support of Association "Perinatology"), who developed moderate Respiratory Distress Syndrome, chest X-ray and US reveal pleural effusion on right side rapid intervention was made before deterioration, requiring intensive life-saving measures. In the neonate, chylous effusion is not a common cause of pleural effusions. It is characterized as an exudate because of the high protein and lipid content once the infant is fed. The fluid will be clear/yellow to slightly cloudy in the unfed state and will quickly become milky following feeding, as chylomicrons appear in the fluid. Lymphocytes predominate in the differential cell count of chyle. The volume of fluid output can be high, and management can be challenging. We review the common manifestations of congenital chylotoraxes and emphasize the importance of early diagnosis and intervention in preventing devastating outcomes from this condition.

  2. Air pollution and congenital heart defects.

    Science.gov (United States)

    Agay-Shay, Keren; Friger, Michael; Linn, Shai; Peled, Ammatzia; Amitai, Yona; Peretz, Chava

    2013-07-01

    Environmental factors such as ambient air pollution have been associated with congenital heart defects. The aim of this study was to investigate the association between gestational exposure to air pollution and the risk of congenital heart defects. We conducted a registry-based cohort study with a total of 135,527 live- and still-births in the Tel-Aviv region during 2000-2006. We used a Geographic Information System-based spatiotemporal approach with weekly inverse distance weighting modeling to evaluate associations between gestational exposure to ambient air pollution during weeks 3-8 of pregnancy and the risk for congenital heart defects. The following pollutants were studied: carbon monoxide, nitrogen-dioxide, ozone, sulfur-dioxide and particulate matter with aerodynamic diameter smaller than 10 μm and 2.5 μm (PM10, PM2.5 respectively). Logistic models, adjusted for socio-demographic covariates were used to evaluate the associations. We found that maternal exposure to increased concentrations of PM10 was associated with multiple congenital heart defects (adjusted OR 1.05, 95% CI: 1.01 to 1.10 for 10 μg/m(3) increment). An inverse association was observed between concentrations of PM2.5 and isolated patent ductus arteriosus (adjusted OR 0.78, 95% CI: 0.68 to 0.91 for 5 µg/m(3) increment). Sensitivity analyses showed that results were consistent. Generally there were no evidence for an association between gaseous air pollutants and congenital heart defects.Our results for PM10 and congenital heart defects confirm results from previous studies. The results for PM2.5 need further investigations.

  3. Combination of congenital cleft lip and palate with congenital diaphragmatic hernia: a severe disease course

    Institute of Scientific and Technical Information of China (English)

    LI Yang; XIONG Wan-lin; SHI Bing

    2006-01-01

    @@ Congenital cleft lip and palate (CLP) is the most common birth defect now in China. The incidence is 1.62‰ according to the data (1988-1992) provided by the National Center for Birth Defects Monitoring.1 It is also one of the congenital anomalies that have excellent prognosis. But severe complications may occur in the cases accompanied some other deformities. Here we report a case of death caused by left-sided posterolateral congenital diaphragmatic hernia (CDH), type Bochdalek, after the cleft operation.

  4. Pan-regional (cervico-thoraco-lumbo-sacral spinal epidural abscess with multi-level discitis, vertebral body osteomyelitis and facet joint septic arthritis: complete resolution with non-operative management

    Directory of Open Access Journals (Sweden)

    Appukutty Manickam, MRCS

    2014-12-01

    Conclusion: Even pan-regional CTLS SEA with multi-level discitis, vertebral body osteomyelitis and facet joint septic arthritis can be managed non-operatively. A complete clinical and radiological resolution can be achieved with antibiotics alone.

  5. Symptoms of Autism among Children with Congenital Deafblindness

    Science.gov (United States)

    Dammeyer, Jesper

    2014-01-01

    Associations between congenital deafness or blindness and autism have been found. The main consequences of congenital sensory impairment, being barriers for communication, language and social interaction development, may lead to symptoms of autism. To date only few studies have been reported concerning individuals with congenital deafblindness.…

  6. Spectrum of congenital anomalies in pregnancies with pregestational diabetes

    NARCIS (Netherlands)

    Garne, Ester; Loane, Maria; Dolk, Helen; Barisic, Ingeborg; Addor, Marie-Claude; Arriola, Larraitz; Bakker, Marian; Calzolari, Elisa; Dias, Carlos Matias; Doray, Berenice; Gatt, Miriam; Melve, Kari Klyungsoyr; Nelen, Vera; O'Mahony, Mary; Pierini, Anna; Randrianaivo-Ranjatoelina, Hanitra; Rankin, Judith; Rissmann, Anke; Tucker, David; Verellun-Dumoulin, Christine; Wiesel, Awi

    2012-01-01

    BACKGROUND Maternal pregestational diabetes is a well-known risk factor for congenital anomalies. This study analyses the spectrum of congenital anomalies associated with maternal diabetes using data from a large European database for the population-based surveillance of congenital anomalies. METHOD

  7. Congenital Heart Disease: Vascular Risk Factors and Medication

    NARCIS (Netherlands)

    H.P.M. Smedts (Dineke)

    2011-01-01

    textabstractCongenital heart disease (CHD) is among the most common congenital abnormalities and involves structural anomalies of the heart and/or related major blood vessels. Congenital heart disease arises in the fi rst trimester of pregnancy, occurring often and in many forms. The reported CHD bi

  8. 21 CFR 890.3665 - Congenital hip dislocation abduction splint.

    Science.gov (United States)

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Congenital hip dislocation abduction splint. 890....3665 Congenital hip dislocation abduction splint. (a) Identification. A congenital hip dislocation abduction splint is a device intended for medical purposes to stabilize the hips of a young child...

  9. Spectrum of congenital anomalies in pregnancies with pregestational diabetes

    DEFF Research Database (Denmark)

    Garne, Ester; Loane, Maria; Dolk, Helen;

    2012-01-01

    Maternal pregestational diabetes is a well-known risk factor for congenital anomalies. This study analyses the spectrum of congenital anomalies associated with maternal diabetes using data from a large European database for the population-based surveillance of congenital anomalies....

  10. Congenital hydrocephalus in clinical practice : A genetic diagnostic approach

    NARCIS (Netherlands)

    Verhagen, J. M. A.; Schrander-Stumpel, C. T. R. M.; Krapels, P. C.; de Die-Smulders, C. E. M.; van Lint, F. H. M.; Willekes, C.; Weber, J. W.; Gavilanes, A. W. D.; Macville, M. V. E.; Stegmann, A. P. A.; Engelen, J. J. M.; Bakker, J.; Vos, Y. J.; Frints, S. G. M.

    2011-01-01

    Congenital hydrocephalus is a common and often disabling disorder. The etiology is very heterogeneous. Little is known about the genetic causes of congenital hydrocephalus. A retrospective survey was performed including patients with primary congenital hydrocephalus referred to the Department of Cli

  11. Symptoms of Autism among Children with Congenital Deafblindness

    Science.gov (United States)

    Dammeyer, Jesper

    2014-01-01

    Associations between congenital deafness or blindness and autism have been found. The main consequences of congenital sensory impairment, being barriers for communication, language and social interaction development, may lead to symptoms of autism. To date only few studies have been reported concerning individuals with congenital deafblindness.…

  12. Congenital torticollis caused by unilateral absence of the sternocleidomastoid muscle

    Energy Technology Data Exchange (ETDEWEB)

    Raman, Subha; Takhtani, Deepak; Wallace, E.C. [UMass Memorial Medical Center, Department of Radiology, Worcester, MA (United States)

    2009-01-15

    Congenital torticollis is most commonly caused by benign fibrosis of the sternocleidomastoid muscle. Absence of the sternocleidomastoid muscle is a rare cause of congenital torticollis. There have been fewer than a dozen reported cases of agenesis of the sternocleidomastoid muscle. We describe a case of congenital absence of the sternocleidomastoid diagnosed by US and confirmed on MRI. (orig.)

  13. Gender and outcome in adult congenital heart disease

    NARCIS (Netherlands)

    Verheugt, Carianne L.; Uiterwaal, Cuno S. P. M.; van der Velde, Enno T.; Meijboom, Folkert J.; Pieper, Petronella G.; Vliegen, Hubert W.; van Dijk, Arie P. J.; Bouma, Berto J.; Grobbee, Diederick E.; Mulder, Barbara J. M.

    2008-01-01

    Background - Gender differences in prognosis have frequently been reported in cardiovascular disease but less so in congenital heart disease. We investigated whether gender is associated with outcome in adult patients with congenital heart disease. Methods and Results - From the CONgenital CORvitia

  14. Gender and outcome in adult congenital heart disease.

    NARCIS (Netherlands)

    Verheugt, C.L.; Uiterwaal, C.S.; Velde, E.T. van der; Meijboom, F.J.; Pieper, P.G.; Vliegen, H.W.; Dijk, A.P.J. van; Bouma, B.J.; Grobbee, D.E.; Mulder, B.J.M.

    2008-01-01

    BACKGROUND: Gender differences in prognosis have frequently been reported in cardiovascular disease but less so in congenital heart disease. We investigated whether gender is associated with outcome in adult patients with congenital heart disease. METHODS AND RESULTS: From the CONgenital CORvitia

  15. Congenital heart disease in young adulthood and beyond

    NARCIS (Netherlands)

    Verheugt, C.L.

    2009-01-01

    Over 95% of children with congenital heart defects now reach adulthood and the number of adults with congenital heart disease is estimated to be at least 1.2 million in Europe alone. Despite major developments in diagnostic methods and treatment of congenital heart disease, cure is rarely achieved.

  16. Congenital Minamata disease: warnings from Japan's experience.

    Science.gov (United States)

    Kondo, K

    2000-07-01

    Minamata disease is alkylmercury poisoning causing Hunter-Russell syndrome due to ingestion of seafood polluted by industrial waste. Two epidemics occurred in Minamata (1956) and Niigata (1965), Japan. Many infants with "cerebral palsy" in villages where adult cases occurred were established as having congenital Minamata disease. Developing brains were affected by alkylmercury through transplacental exposure and even by breastfeeding. This report reviews the history, clinical features, pathology, epidemiology, metal analysis, experiments, and sociolegal aspects of congenital Minamata disease. Many victims are still alive and their present conditions are reviewed.

  17. Isolated Bilateral Congenital Iris Sphincter Agenesis

    Directory of Open Access Journals (Sweden)

    Aparna Rao

    2011-01-01

    Full Text Available Purpose. We herein report a patient with bilateral congenital total iris sphincter agenesis with no other abnormality detected on systemic examination. Methods. A 24-year-old laborer presented to us for a routine checkup with complaint of photophobia and inability to work under sunlight. Examination revealed bilateral absence of sphincter and 6.5 mm pupil in both eyes in the undilated state. Results. Accommodation was poor in both eyes. Systemic examination was within normal limits. He was prescribed bifocal photochromic glasses for constant wear. Conclusions. Congenital sphincter agenesis can occur in an isolated form without systemic abnormalities which can be managed conservatively.

  18. Tracheal quadrifurcation associated with congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Bhat, Venkatraman; Gadabanahalli, Karthik; Ahmad, Ozaire [Narayana Multispeciality Hospital and Mazumdar Shaw Cancer Center, Department of Radiology, Bangalore (India)

    2015-08-15

    Tracheal anomalies are known in association with congenital cardiac defects. Some of the well-described anomalies include accessory (displaced) tracheal bronchus with variants, tracheal trifurcation and accessory cardiac bronchus. Here we describe a case of tracheal quadrifurcation associated with complex congenital heart disease. Illustration of complex airway anatomy was simplified by the use of multidetector CT using a variety of image display options. Awareness of this complex anomaly will expand our knowledge of tracheal anomalies and equip the anesthesia and surgical team for better airway management. (orig.)

  19. Occult intraspinal abnormalities and congenital scoliosis

    Directory of Open Access Journals (Sweden)

    Mohammad Ali Erfani

    2007-06-01

    Full Text Available

    BACKGROUND: Congenital scoliosis occurs because of either the failure of formation or the failure of segmentation or both. Evaluation of the incidence and the types of occult intraspinal abnormalities in congenital scoliosis is the subject of this study.

    METHODS: During a period of 29 years, 103 patients with congenital scoliosis were studied. MRI was used in 46 patients, myelography or CT myelography was used in 64 patients and both MRI and myelography or CT myelography were used in 7 patients for intraspinal abnormalities.

    RESULTS: In the MRI group, among the 46 patients, 19 patients (41.3% had intraspinal abnormalities consisting syringomyelia in 9 (19.5% diastematomyelia in 8 (17.4%, tethered cord syndrome in 6 (13%, low conus in 5 (10.8% and diplomyelia in 3 (6.5% of the patients. In the myelography group, among the 64 patients, 17 (26.5% had intraspinal abnormalities and diastematomyelia was the most common one found in 14 (21.8% patients.

    CONCLUSIONS: Intraspinal abnormalities are frequent in congenital scoliosis. Syringomyelia may be associated with congenital scoliosis. In congenital scoliosis, rib fusion may be an indicator of intraspinal abnormalities in MRI. A significant difference between clinical findings and intraspinal anomalies (P<0.05 was noted. Moreover, we believe that total spinal MRI with coronal, sagittal and axial views is a valuable tool in determining the intraspinal abnormalities in congenital scoliosis. This method is highly

  20. Congenital dislocation of the patella - clinical case

    Directory of Open Access Journals (Sweden)

    Pedro Miguel Sá

    2016-02-01

    Full Text Available ABSTRACT Congenital patellar dislocation is a rare condition in which the patella is permanently dislocated and cannot be reduced manually. The patella develops normally as a sesamoid bone of the femur. This congenital dislocation results from failure of the internal rotation of the myotome that forms the femur, quadriceps muscle and extensor apparatus. It usually manifests immediately after birth, although in some rare cases, the diagnosis may be delayed until adolescence or adulthood. Early diagnosis is important, thereby allowing surgical correction and avoiding late sequelae, including early degenerative changes in the knee. A case of permanent dislocation of the patella is presented here, in a female child aged seven years.

  1. Congenital color blindness in young Turkish men.

    Science.gov (United States)

    Citirik, Mehmet; Acaroglu, Golge; Batman, Cosar; Zilelioglu, Orhan

    2005-04-01

    We investigated a healthy population of men from different regions of Turkey for the presence of congenital red-green color blindness. Using Ishihara pseudoisochromatic plates, 941 healthy men from the Turkish army were tested for congenital red-green color blindness. The prevalence of red-green color blindness was 7.33 +/- 0.98% (5.10% protans and 2.23% deutans). These ratios were higher than other reported samples from Mediterranean Europe. Higher percentages of color blindness were found in regions with a lower education level and more consanguineous marriages.

  2. Severe congenital cyclic neutropenia: A case report

    Science.gov (United States)

    Patil, Vidyavathi H; Hugar, Shivayogi M; Balikai, Girish; Patil, Sudha

    2016-01-01

    Congenital cyclic neutropenia syndrome is a constitutional genetic disorder which is characterized by very low number of neutrophils (neutropenia). Patients suffering from this disorder clinically present with neutropenia at early age, history of recurrent fever, ulcerations in the oral cavity, gingivitis, and other recurrent infections. This paper describes a case report of a child with recurrent mouth ulcers, fever, and later diagnosed with severe congenital cyclic neutropenia. This also emphasizes the importance of identification of rare causes of immunosuppressive conditions in children presenting with recurrent oral ulcers and poor dental hygiene, to prevent long-term complications of oral cavity and also morbidity and mortality secondary to neutropenic sepsis. PMID:27857902

  3. [Congenital hip dysplasia, screening and therapy].

    Science.gov (United States)

    Kolb, A; Windhager, R; Chiari, C

    2015-11-01

    Congenital hip dysplasia and hip dislocation are relatively common pathological conditions of the musculoskeletal system in infants. An early and certain diagnosis can now be achieved by sonographic hip screening within the framework of screening examination programs. This early diagnostic procedure in infants is essential particularly for a conservative treatment strategy. Therefore, apart from possessing in-depth knowledge, training of the examiner in specialist courses is of central importance. This article presents an overview of the entity of congenital hip dysplasia and hip dislocation, the diagnostics and treatment with special emphasis on recent developments.

  4. Diagnosis and treatment of congenital heart defects

    Energy Technology Data Exchange (ETDEWEB)

    Peuster, M.; Beerbaum, P.; Meyer, H. [Ruhr-Universitaet Bochum, Bad Oeyenhausen (Germany). Herz- und Diabeteszentrum NRW

    2004-07-01

    The Clinic for Congenital Heart Defects in Bad Oeynhausen, Germany, specializes in the interdisciplinary care of children and adolescents with congenital heart defects. The available expertise covers all aspects of diagnosis and treatment, as well as clinical research at the highest level. The clinic has a complete array of imaging systems, including a Philips Integris BV5000 Biplane cath lab system, Philips Gyroscan Intera CV MR system, ultrasound and PET systems. The range of available equipment makes it possible to select the most appropriate imaging modality for each situation, with particular reference to the need to minimize the overall radiation exposure. (orig.)

  5. New approaches to managing congenital diaphragmatic hernia.

    Science.gov (United States)

    Ivascu, Felicia A; Hirschl, Ronald B

    2004-06-01

    A number of new techniques have been studied for managing newborns with congenital diaphragmatic hernia and respiratory insufficiency. Among these have been the techniques of delayed approach to the repair of the diaphragmatic hernia; permissive hypercapnia; nitric oxide and surfactant administration; intratracheal pulmonary ventilation; liquid ventilation; perfluorocarbon-induced lung growth; and lung transplantation. These interventions are at various stages of development and evaluation of effectiveness. All, however, are being explored in the hopes of improving outcome in patients with congenital diaphragmatic hernia who continue to have significant morbidity and mortality in the newborn period.

  6. Congenital malformations of the temporal bone.

    Science.gov (United States)

    Mukerji, Shraddha S; Parmar, Hemant A; Ibrahim, Mohannad; Mukherji, Suresh K

    2011-08-01

    Congenital ear or temporal bone malformations are a diagnostic challenge to radiologists and surgeons alike. Newer imaging techniques can detect subtle changes in middle ear and cochlear anatomy. This information is invaluable with increasing use of hearing restoration surgeries and/or cochlear implants in such patients. This article discusses the embryogenesis, classification system, and salient imaging findings of congenital outer, middle ear, and inner ear anomalies in children. Both high-resolution computerized tomography and magnetic resonance imaging scans of the temporal bones are described.

  7. Recurrent congenital fibrosarcoma with heart metastases.

    Science.gov (United States)

    Lohi, Olli; Vornanen, Martine; Kähkönen, Marketta; Vettenranta, Kim; Parto, Katriina; Arola, Mikko

    2012-07-01

    Congenital fibrosarcomas are malignant tumors that arise in soft tissues. In infants this unique tumor does not commonly metastasize, even though there may be local recurrences. We report here a boy who had congenital fibrosarcoma in his right foot, which was completely excised at the age of 3 days. Four months later, a solitary encapsulated metastasis emerged in thoracic chest wall, which was operated. During adjuvant chemotherapy he developed histologically confirmed fibrosarcoma metastases in the heart. After extended treatment with cyclophosphamide/topotecan and gemcitabine/docetaxel, the heart tumors disappeared and he has been in complete remission for 3 years.

  8. Straight line closure of congenital macrostomia

    Directory of Open Access Journals (Sweden)

    Schwarz Richard

    2004-01-01

    Full Text Available The results of patients operated on by Nepal Cleft Lip and Palate Association (NECLAPA surgeons for congenital macrostomia were prospectively studied between January 2000 and December 2002. There were four males and three females with a median age of 10 years. Three had an associated branchial arch syndrome. In all patients an overlapping repair of orbicularis oris was done. Six patients had a straight line closure with excellent cosmetic results and one a Z-plasty with a more obvious scar. All had a normal appearing commissure. Overlapping orbicularis repair with straight line skin closure for this rare congenital anomaly is recommended.

  9. PROBLEM OF DIAGNOSIS OF EARLY CONGENITAL SYPHILIS

    Directory of Open Access Journals (Sweden)

    G. P. Martynova

    2013-01-01

    Full Text Available The paper presents a case of delayed diagnosis of early congenital syphilis in a child whose mother was observed in prenatal clinic starting from the 14th week of pregnancy. The child had specific skin rash already in maternity. The child was discharged home without examination in the hospital. Only manifestations of nephritis lead to admission of the child into an inpatient hospital. Only at the age of 1 month and 23 days the child was suspected of early congenital syphilis with severe polisimptomnym, and the patient was transferred to specialized hospital. 

  10. CONGENITAL TOXOPLASMOSIS: CLINICAL COURSE AND RESIDUAL OUTCOMES

    Directory of Open Access Journals (Sweden)

    L. Yu. Barycheva

    2014-01-01

    Full Text Available We examined 69 infants with clinically manifested forms of congenital toxoplasmosis diagnosed in theStavropolregion in the period from 1992 to 2012. The clinical course was characterized by a predominance of severe forms of congenial toxoplasmosis, high mortality rate (39,1%, predominant damage the central nervous system (100% and adverse neurological outcome. Surviving children developed disabilities at the outcome of congenital toxoplasmosis such as hydrocephaly (71,4%, microcephaly (9,5%, cerebral palsy (52,4%, episindroma (16,7%, mental retardation (19,0 % complete or partial blindness (28,6%. 

  11. A review of the anatomical, biomechanical and kinematic findings of posterior cruciate ligament injury with respect to non-operative management.

    Science.gov (United States)

    Chandrasekaran, Sivashankar; Ma, David; Scarvell, Jennifer M; Woods, Kevin R; Smith, Paul N

    2012-12-01

    An understanding of the kinematics of posterior cruciate ligament (PCL) deficiency is important for the diagnosis and management of patients with isolated PCL injury. The kinematics of PCL injury has been analysed through cadaveric and in vivo imaging studies. Cadaveric studies have detailed the anatomy of the PCL. It consists of two functional bundles, anterolateral and posteromedial, which exhibit different tensioning patterns through the arc of knee flexion. Isolated sectioning of the PCL and its related structures in cadaveric specimens has defined its primary and secondary restraining functions. The PCL is the primary restraint to posterior tibia translation above 30° and is a secondary restraint below 30° of knee flexion. Furthermore, sectioning of the PCL produces increased chondral deformation forces in the medial compartment as the knee flexes. However, the drawback of cadaveric studies is that they can not replicate the contribution of surrounding neuromuscular structures to joint stability that occurs in the clinical setting. To address this, there have been in vivo studies that have examined the kinematics of the PCL deficient knee using imaging modalities whilst subjects perform dynamic manoeuvres. These studies demonstrate significant posterior subluxation of the medial tibia as the knee flexes. The results of these experimental studies are in line with clinical consequences of PCL deficiency. In particular, arthroscopic evaluation of subjects with isolated PCL injuries demonstrate an increased incidence of chondral lesions in the medial compartment. Yet despite the altered kinematics with PCL injury only a minority of patients require surgery for persistent instability and the majority of athletes are able to return to sport following a period of non-operative rehabilitation. Specifically, non-operative management centres on a programme of quadriceps strengthening and hamstring inhibition to minimise posterior tibial load. The mechanism behind the

  12. Diagnóstico y tratamiento de los quistes de colédoco: Presentación de 10 nuevos casos Diagnosis and management of choledochal cysts: A review of 10 new cases

    Directory of Open Access Journals (Sweden)

    R. Uribarrena Amezaga

    2008-02-01

    Full Text Available Objetivo: analizar las técnicas diagnósticas y las distintas posibilidades terapéuticas de esta rara patología. Pacientes y métodos: presentamos un estudio retrospectivo de todos los casos de quistes de colédoco diagnosticados en nuestro hospital desde 1991. Incluye 10 nuevos casos y distintos tipos de quistes de colédoco (QC. Resultados: de los 10 pacientes diagnosticados de QC siete tenían menos de 10 años. En cuanto a los diferentes tipos de QC: 7 eran de tipo I, 1 de tipo III, 1 de tipo IVa y otro de tipo V. Las manifestaciones clínicas habitualmente tenían un perfil biliar o pancreático. El diagnóstico se ha realizado mediante técnicas de imagen no invasivas (ECO, TAC y CPRE. El tratamiento ha venido condicionado por el tipo de quiste: quistectomía con hepaticoyeyunostomía en "Y de Roux" en los de tipo I, CPRE con esfinterotomía endoscópica en los de tipo III y trasplante hepático en la enfermedad de Caroli. En el único QC tipo IVa se realizó una papilotomía transductal y una colecistectomía. Todos han sido controlados periódicamente, sin que hayamos registrado complicaciones relevantes durante el seguimiento. Conclusión: los QC son más frecuentes en niños pero no son excepcionales en adultos. Las técnicas de imagen y la CPRE son esenciales en el diagnóstico de esta patología. El tratamiento dependerá del tipo de quiste de colédoco. Es aconsejable el seguimiento periódico y prolongado de estos pacientes para detectar precozmente complicaciones como la transformación maligna.Aim: the aim of this study was to analyze the diagnostic and therapeutic options for the various types of this rare disease. Patients and methods: 10 patients with choledochal cysts (CC were diagnosed in our hospital since 1991. Type of cyst was established according to the Alonso-Lej classification. Results: we report 7 type-I, 1 type-III, 1 type-IVa, and 1 type-V CC cases. Clinical manifestations were abdominal pain in all cases with

  13. High prevalence of severe coronary artery disease in elderly patients with non-operable chronic thromboembolic pulmonary hypertension referred for balloon pulmonary angioplasty

    Directory of Open Access Journals (Sweden)

    Marek Roik

    2016-11-01

    Full Text Available Introduction : Balloon pulmonary angioplasty (BPA is a new emerging catheter-based alternative treatment option for patients with inoperable chronic thromboembolic pulmonary hypertension (CTEPH. Aim : To show that all elderly CTEPH patients referred for BPA are at higher risk of obstructive coronary artery disease and that, in daily practice, they should undergo invasive coronary angiography. Material and methods : Eleven patients at the age of at least 65 years (6 males, 5 females, 77.2 ±5.9 years with confirmed non-operable type II or type III CTEPH, considered for BPA, underwent elective coronary angiography. Severe obstructive coronary artery disease (CAD was diagnosed when stenosis of left main coronary artery ≥ 50% or stenosis of ≥ 70% of epicardial arteries was angiographically confirmed. We also screened for CAD consecutive age- and sex-matched 114 PE survivors (52 males, 62 females, 74.8 ±7.2 years with excluded CTEPH. Results : Severe CAD was more frequent in elderly patients with non-operable type II or type III CTEPH candidates for BPA than in elderly acute PE survivors with excluded CTEPH (54.5% vs. 16.7%, p < 0.01, and therefore elderly CTEPH patients referred for BPA were at higher risk of CAD (OR = 5.9, 95% CI: 1.64–21.46, p = 0.007 when compared to elderly survivors after acute PE with excluded CTEPH. Conclusions : All elderly CTEPH patients referred for BPA are at higher risk of severe CAD and should routinely undergo invasive coronary angiography before BPA.

  14. 消化性溃疡穿孔非手术治疗指征的探讨%Indications of Non-Operative Management for Perforated Peptic Ulcer

    Institute of Scientific and Technical Information of China (English)

    方育; 李非; 曹锋; 李昂; 张钰鹏; 刘东斌; 孙家邦; 王亚军

    2011-01-01

    Objective To discuss the indications of the non-operative management for perforated peptic ulcer.Methods Clinical data of 145 patients with perforated peptic ulcer, aged below 70 years old, with first attack and onset time<12 h , admitted to our hospital between January 2002 and December 2009, were analyzed respectively.Patients who were negative for fluid of abdominopelvic cavity in ultrasound examination and leakage in water-soluble contrast examination received non-operative management, otherwise underwent operation directly (If the patients were being on medication for the ulcer, they should also go directly to surgery).Non-operative patients were converted to operation if the symptom had not relieved during the first 12 h.When admitted , the APACHE Ⅱ score was calculated for all patients.Results Seventy-four and 71 patients underwent non-operative management and operation directly respectively.Sex, age, onset time, perforation site and so on were comparable between the two groups (P>0.05), while APACHE Ⅱ score over 8 was 25.7% and 76.1% respectively with significant difference (P=0.000).In non-operative group, 11 (14.9%) patients were converted to operation.The mortality (4.1% vs 9.8%, P=0.203), mobility (16.2% vs 25.3%, P=0.175), hospital stay [(11.4±2.5) d vs (11.3±1.3) d,P=0.447], and cost [(11 657.3±2 826.4) yuan vs (10 013.0± 1 877.4) yuan, P=0.212]between two groups had also no significant difference.The mean APACHE Ⅱ score was significant different between the survivors and the dead (9.3 vs 20.2, P=0.000).APACHE Ⅱ score was positively related to mortality and morbility (r=0.98,P=0.000; r= 0.52, P= 0.000).Conclusions Non-operative management is a safe and effective way in selected patients with perforated peptic ulcer, such as APACHE Ⅱ score ≤8, negative for fluid of abdominopelvic cavity in ultrasound examination, and leakage in water-soluble contrast examination.APACHE Ⅱ score is an important factor in prognosis of

  15. Esophageal duplication and congenital esophageal stenosis.

    Science.gov (United States)

    Trappey, A Francois; Hirose, Shinjiro

    2017-04-01

    Esophageal duplication and congenital esophageal stenosis (CES) may represent diseases with common embryologic etiologies, namely, faulty tracheoesophageal separation and differentiation. Here, we will re-enforce definitions for these diseases as well as review their embryology, diagnosis, and treatment. Copyright © 2017. Published by Elsevier Inc.

  16. Systolic time intervals in congenital aortic stenosis.

    NARCIS (Netherlands)

    Moene, Rudolf Johannens

    1974-01-01

    Obstruction to left ventricular outflow may occur at the valvular, subvalvular and Supravalvular level. The most common congenital forms are valvular aortic stenosis and membranous subaortic stenosis, representing about 75 and l0 percent of all cases respectively. ... Zie: Chapter 1

  17. Congenital myasthenic syndrome of Brahman cattle

    NARCIS (Netherlands)

    Thompson, P.N.

    2006-01-01

    The postsynaptic congenital myasthenic syndrome that is the subject of this thesis is caused by a deficiency of nAChR at the neuromuscular junction, resulting from homozygosity for a null mutation in the ε-subunit gene (CHRNE 470del20). To date, this represents the only naturally occurring CMS in

  18. Congenital Heart Disease and General Practice

    NARCIS (Netherlands)

    W.B. de Koning (Wilfred)

    2012-01-01

    textabstractThe treatment of patients with congenital heart disease (CHD) has progressed vastly over the last five decennia. In the Netherlands, around 200,000 children are born each year, around 1,800 of whom have a CHD. This incidence – 6 – 8 per thousand live births – is reported to be similar ro

  19. Amblyopia Associated with Congenital Facial Nerve Paralysis.

    Science.gov (United States)

    Iwamura, Hitoshi; Kondo, Kenji; Sawamura, Hiromasa; Baba, Shintaro; Yasuhara, Kazuo; Yamasoba, Tatsuya

    2016-01-01

    The association between congenital facial paralysis and visual development has not been thoroughly studied. Of 27 pediatric cases of congenital facial paralysis, we identified 3 patients who developed amblyopia, a visual acuity decrease caused by abnormal visual development, as comorbidity. These 3 patients had facial paralysis in the periocular region and developed amblyopia on the paralyzed side. They started treatment by wearing an eye patch immediately after diagnosis and before the critical visual developmental period; all patients responded to the treatment. Our findings suggest that the incidence of amblyopia in the cases of congenital facial paralysis, particularly the paralysis in the periocular region, is higher than that in the general pediatric population. Interestingly, 2 of the 3 patients developed anisometropic amblyopia due to the hyperopia of the affected eye, implying that the periocular facial paralysis may have affected the refraction of the eye through yet unspecified mechanisms. Therefore, the physicians who manage facial paralysis should keep this pathology in mind, and when they see pediatric patients with congenital facial paralysis involving the periocular region, they should consult an ophthalmologist as soon as possible. © 2016 S. Karger AG, Basel.

  20. Congenital cutaneous histiocytosis in a piglet.

    Science.gov (United States)

    Hélie, P; Kiupel, M; Drolet, R

    2014-07-01

    A 2-week-old crossbred male piglet with numerous congenital, variably sized macules, plaques, and papules distributed all over the body was submitted for necropsy. Significant gross and histological lesions were restricted to the skin. On light microscopic examination, these cutaneous lesions corresponded to dermal and/or subcutaneous masses composed of spindle-shaped to round cells that multifocally contained hemosiderin; epidermotropism was not observed. Immunohistochemically, the neoplastic cells were strongly positive for CD204; moderately positive for CD163, lysozyme, and vimentin; and negative for Mac 387, α-1-antitrypsin, S-100 protein and E-cadherin; frozen tissues were not available for CD1a and CD11c. Transmission electron microscopic examination of sections from formalin-fixed tissues did not reveal Birbeck's granules. The clinical, morphological, and immunohistochemical results were consistent with a congenital cutaneous histiocytosis of non-Langerhans cell origin. The condition most resembled juvenile xanthogranuloma in humans, a generally skin-limited non-Langerhans histiocytic disorder that can be congenital. Cutaneous and/or systemic histiocytic disorders are well characterized in dogs and have been described in cats, and a case with some similarities to ours has been reported in a neonatal piglet, but this is to our knowledge the first immunohistochemically supported report of histiocytosis in the pig and congenital histiocytosis in animals.

  1. Congenital orbital sudoriferous cyst: radiological findings

    Energy Technology Data Exchange (ETDEWEB)

    Haider, Ehsaan; Gill, Dan [McGill University, Department of Radiology, Montreal (Canada); Saigal, Gaurav [University of Miami, Department of Radiology, Jackson Memorial Hospital, Miami, FL (United States); Brown, Erik [McGill University, Montreal (Canada); Daniel, Sam [McGill University, Department of Otolarnygology, Montreal Children' s Hospital, Montreal (Canada)

    2005-11-01

    We report an extremely unusual case of a 4-month-old boy who presented with a sudoriferous gland cyst of the orbit. Congenital sudoriferous cyst is extremely rare in both the adult and pediatric populations. The CT and MRI findings are presented and the pertinent literature reviewed. (orig.)

  2. Prenatal diagnosis of congenital complete heart block.

    Science.gov (United States)

    Costa, Patrícia; Carriço, Ana; Ramalho, Carla; Matias, Alexandra; Monterroso, José; Areias, José Carlos

    2007-06-01

    Congenital complete heart block (CHB) is a conduction defect with an incidence in the general population of 1/15,000 to 1/22,000 live births. It is frequently associated with structural heart defects or maternal autoimmune disease. We describe a case of CHB associated with maternal systemic lupus erythematosus and review our previous cases and experience of CHB.

  3. South African congenital disorders data, 2006 - 2014

    African Journals Online (AJOL)

    Network of Congenital Anomalies, collate relevant data to determine ... the surveillance system implemented by the NDoH from 2006 to. 2014. ... School of Clinical Medicine, College of Health Sciences, Nelson R Mandela School of Medicine, University of ... ses) while laboratory or other investigations ... Not recorded.

  4. [Congenital toxoplasmosis: severe ocular and neurological complications

    NARCIS (Netherlands)

    Hoekstra, F.; Buzing, C.; Sporken, J.M.J.; Erasmus, C.E.; Flier, M. van der; Semmekrot, B.A.

    2011-01-01

    Two infants with congenital toxoplasmosis are presented. A girl born prematurely was treated postnatally after the mother had received antimicrobial treatment during pregnancy for acute toxoplasmosis. Apart from being small for gestational age, she remained without symptoms and treatment was ceased

  5. Why prevent, diagnose and treat congenital toxoplasmosis?

    Directory of Open Access Journals (Sweden)

    Rima McLeod

    2009-03-01

    Full Text Available Evidence that prevention, diagnosis and treatment of toxoplasmosis is beneficial developed as follows: anti-parasitic agents abrogate Toxoplasma gondiitachyzoite growth, preventing destruction of infected, cultured, mammalian cells and cure active infections in experimental animals, including primates. They treat active infections in persons who are immune-compromised, limit destruction of retina by replicating parasites and thereby treat ocular toxoplasmosis and treat active infection in the fetus and infant. Outcomes of untreated congenital toxoplasmosis include adverse ocular and neurologic sequelae described in different countries and decades. Better outcomes are associated with treatment of infected infants throughout their first year of life. Shorter intervals between diagnosis and treatment in utero improve outcomes. A French approach for diagnosis and treatment of congenital toxoplasmosis in the fetus and infant can prevent toxoplasmosis and limit adverse sequelae. In addition, new data demonstrate that this French approach results in favorable outcomes with some early gestation infections. A standardized approach to diagnosis and treatment during gestation has not yet been applied generally in the USA. Nonetheless, a small, similar experience confirms that this French approach is feasible, safe, and results in favorable outcomes in the National Collaborative Chicago-based Congenital Toxoplasmosis Study cohort. Prompt diagnosis, prevention and treatment reduce adverse sequelae of congenital toxoplasmosis.

  6. Surgical treatment of congenital biliary duct cyst

    Directory of Open Access Journals (Sweden)

    Wang De-chun

    2012-03-01

    Full Text Available Abstract Background It is acknowledged that total cyst excision is a safe and ideal surgical treatment for congenital biliary duct cyst, compared to simple internal drainage. The aim of this study was to determine the optimal operation occasion and the effect of laparoscopy on congenital biliary duct cyst based upon total cyst excision. Methods From January 2002 to January 2011, 217 patients were admitted to Southwest Hospital for congenital biliary duct cyst. To determine the optimal surgery occasion, we divided these subjects into three groups, the infant group (age ≤ 3 years, the immaturity group (3 18 years, and then evaluated the feasibility, risk and long-term outcome after surgery in the three groups. To analyze the effect of laparoscopic technique on congenital biliary duct cyst, we divided the patients into the laparoscopy and the open surgery groups. Results Among the three groups, the morbidity from cholangiolithiasis before surgical treatment had obvious discrepancy (p 0.05. Similarly, no significant discrepancy was observed in the morbidity from postoperative complications or long-term postoperative complications (p > 0.05 between the laparoscopic and the open surgery groups. Conclusions We conclude that total cyst excision should be performed as early as possible. The optimal treatment occasion is the infant period, and laparoscopic resection may be a new safe and feasible minimally invasive surgery for this disease.

  7. Congenital methemoglobinemia. Report of a case

    Directory of Open Access Journals (Sweden)

    Zárate Aspiros Romeo

    2014-07-01

    Full Text Available Methemoglobinemia is a condition in which there are high blood levels of methemoglobin. It may be congenital or acquired. The congenital form (which is rare is the result of a defect in the methemoglobin reductase enzyme, dependent of the nicotinamide adenine dinucleotide phosphate reduced (NADPH; it is also caused by hemoglobinopathies. Congenital methemoglobinemia type 2 constitutes 10% of all cases and is usually fatal in early life. Its main feature is progressive neurological deterioration associa- ted with mental retardation, microcephaly, opisthotonos, athetotic movements, and generalized hypertonia. We report the case of a newborn with cyanosis from birth in whom perinatal hypoxia, pulmonary disease, heart failure and sepsis were ruled out, hence methemoglobin levels were requested, which led to the diagnosis of congenital methemoglobinemia based on a methemoglobin of 29.6%. Methemoglobin values were investigated in his 2 years old brother, who was cyanotic and showed progressive psychomotor retardation from birth; his methemoglobin was 30%. We concluded that both patients had type 2 hereditary methemoglobinemia in view of the severe neu- rological disorders of the older brother. Treatment with ascorbic acid was initiated in both siblings, resulting in the disappearance of cyanosis in the newborn.

  8. Seasonality of Congenital Anomalies in Europe

    NARCIS (Netherlands)

    Luteijn, Johannes Michiel; Dolk, Helen; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Bianchi, Fabrizio; Calzolari, Elisa; Draper, Elizabeth; Garne, Ester; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; McDonnell, Bob; Nelen, Vera; O'Mahony, Mary; Mullaney, Carmel; Queisser-Luft, Annette; Rankin, Judith; Tucker, David; Verellen-Dumoulin, Christine; de Walle, Hermien; Yevtushok, Lyubov

    2014-01-01

    BackgroundThis study describes seasonality of congenital anomalies in Europe to provide a baseline against which to assess the impact of specific time varying exposures such as the H1N1 pandemic influenza, and to provide a comprehensive and recent picture of seasonality and its possible relation to

  9. Congenital spine anomalies: the closed spinal dysraphisms

    Energy Technology Data Exchange (ETDEWEB)

    Schwartz, Erin Simon [University of Pennsylvania, Department of Radiology, The Children' s Hospital of Philadelphia, Perelman School of Medicine, Philadelphia, PA (United States); Rossi, Andrea [G. Gaslini Children' s Hospital, Department of Radiology, Genoa (Italy)

    2015-09-15

    The term congenital spinal anomalies encompasses a wide variety of dysmorphology that occurs during early development. Familiarity with current terminology and a practical, clinico-radiologic classification system allows the radiologist to have a more complete understanding of malformations of the spine and improves accuracy of diagnosis when these entities are encountered in practice. (orig.)

  10. Dermatoglyphic’s in Congenital Cardiac Disease

    Directory of Open Access Journals (Sweden)

    Singh Brijendra

    2016-03-01

    Full Text Available Various dermatoglyphic parameters like finger print pattern, atd angle, absolute ridge count & ab, bc ,cd, and ad ridge counts were observed in 150 cases of congenital cardiac disease, comprising of 72 cases of Ventricular Septal Defects (VSD, 60 cases of Atrial Septal Defects (ASD, 9 cases of Coarctation of Aorta (COA & 9 cases of Tetralogy of Fallot’s (TOF. Same dermatoglyphic parameters were also studied in 300 controls and statistical comparison of cases and controls was done. In our study it was observed that the congenital cardiac disease cases exhibited preponderance of whorls (55.8% with decrease in loop pattern (36.2% as compared to those of controls and the difference was highly significant (P<0.001. The difference in the mean total finger ridge count (TFRC of the controls and of the cases of Congenital Cardiac Diseases (CCD was found to be highly significant (P<0.001, while the  mean atd angle in the cases of Congenital Cardiac Disease (CCD was widen up and was statistically significant too. The mean ab, the mean bc ridge, the mean cd ridge and the mean ad ridge counts were also higher in the various type of CCD as compared to that controls and on statistical comparison, the difference was found to be highly significant.

  11. Computed tomography in untreated congenital adrenal hyperplasia

    Energy Technology Data Exchange (ETDEWEB)

    Harinarayana, C.V.; Renu, G.; Ammini, A.C.; Khurana, M.L.; Ved, P.; Karmarkar, M.G.; Ahuja, M.M.S.; Berry, M. (AIIMS, New Delhi (India))

    1991-02-01

    Six children with untreated congenital adrenal hyperplasia (CAH) were examined by computed tomography (CT). Three cases demonstrated diffuse enlargement of both adrenal glands with preservation of normal configuration and two showed tumorous transformation in one of the enlarged glands. One had equivocal in this group (age 2 years) also showed bilateral hyperplasia. (orig.).

  12. Persistent congenital milia with naevus spilus

    Directory of Open Access Journals (Sweden)

    Mishra Dharmendra

    1995-01-01

    Full Text Available We are reporting a case of solitary persistent left-sided endoareolar congenital milia in association with no serious malformation or abnormality of any structure except the presence of naevus spilus, on the back of the ipsilateral forearm.

  13. Congenital toxoplasmosis and DALYs in the Netherlands.

    NARCIS (Netherlands)

    Kortbeek, L.M.; Hofhuis, A.; Nijhuis, C.D.; Havelaar, A.H.

    2009-01-01

    The calculation of disability-adjusted life years (DALYs) enables public health policy makers to compare the burden of disease of a specific disease with that of other (infectious) diseases. The incidence of a disease is important for the calculation of DALYs. To estimate the incidence of congenital

  14. DNA methylation abnormalities in congenital heart disease.

    Science.gov (United States)

    Serra-Juhé, Clara; Cuscó, Ivon; Homs, Aïda; Flores, Raquel; Torán, Núria; Pérez-Jurado, Luis A

    2015-01-01

    Congenital heart defects represent the most common malformation at birth, occurring also in ∼50% of individuals with Down syndrome. Congenital heart defects are thought to have multifactorial etiology, but the main causes are largely unknown. We have explored the global methylation profile of fetal heart DNA in comparison to blood DNA from control subjects: an absolute correlation with the type of tissue was detected. Pathway analysis revealed a significant enrichment of differential methylation at genes related to muscle contraction and cardiomyopathies in the developing heart DNA. We have also searched for abnormal methylation profiles on developing heart-tissue DNA of syndromic and non-syndromic congenital heart defects. On average, 3 regions with aberrant methylation were detected per sample and 18 regions were found differentially methylated between groups. Several epimutations were detected in candidate genes involved in growth regulation, apoptosis and folate pathway. A likely pathogenic hypermethylation of several intragenic sites at the MSX1 gene, involved in outflow tract morphogenesis, was found in a fetus with isolated heart malformation. In addition, hypermethylation of the GATA4 gene was present in fetuses with Down syndrome with or without congenital heart defects, as well as in fetuses with isolated heart malformations. Expression deregulation of the abnormally methylated genes was detected. Our data indicate that epigenetic alterations of relevant genes are present in developing heart DNA in fetuses with both isolated and syndromic heart malformations. These epimutations likely contribute to the pathogenesis of the malformation by cis-acting effects on gene expression.

  15. [Congenital left sinus of Valsalva aneurysm].

    Science.gov (United States)

    Simões, M V; Figueira, R R; Barbato, D; Miziara, H L

    1991-01-01

    Two cases of left sinus of Valsalva congenital aneurysm (SVCA), incidentally found are described. The authors call attention on rarity of them, and present new concepts about their morphogenesis and incidence. They also suggested a higher incidence of asymptomatic and undiagnosed cases of SVCA should be considered.

  16. Congenital hearing loss. Is CT enough?

    African Journals Online (AJOL)

    Mahmoud Agha

    2014-01-24

    Jan 24, 2014 ... aged from 1 to 7years, who were presented by unilateral or bilateral congenital conductive .... As known, the ear consists of external, middle and inner parts. External ear is formed of .... pede the child speech, language, and cognitive development. This study .... ing aids: current status in adults and children.

  17. [Congenital toxoplasmosis: severe ocular and neurological complications

    NARCIS (Netherlands)

    Hoekstra, F.; Buzing, C.; Sporken, J.M.J.; Erasmus, C.E.; Flier, M. van der; Semmekrot, B.A.

    2011-01-01

    Two infants with congenital toxoplasmosis are presented. A girl born prematurely was treated postnatally after the mother had received antimicrobial treatment during pregnancy for acute toxoplasmosis. Apart from being small for gestational age, she remained without symptoms and treatment was ceased

  18. Aerobic Training in Patients with Congenital Myopathy

    DEFF Research Database (Denmark)

    Hedermann, Gitte; Vissing, Christoffer Rasmus; Jensen, Karen

    2016-01-01

    INTRODUCTION: Congenital myopathies (CM) often affect contractile proteins of the sarcomere, which could render patients susceptible to exercise-induced muscle damage. We investigated if exercise is safe and beneficial in patients with CM. METHODS: Patients exercised on a stationary bike for 30 m...

  19. Pregnancy in women with congenital heart disease

    NARCIS (Netherlands)

    Greutmann, Matthias; Pieper, Petronella G.

    2015-01-01

    Congenital heart defects are the most common birth defects. Major advances in open-heart surgery have led to rapidly evolving cohorts of adult survivors and the majority of affected women now survive to childbearing age. The risk of cardiovascular complications during pregnancy and peripartum depend

  20. Puberty and fertility in congenital adrenal hyperplasia.

    NARCIS (Netherlands)

    Otten, B.J.; Stikkelbroeck, M.M.L.; Claahsen-van der Grinten, H.L.; Hermus, A.R.M.M.

    2005-01-01

    Congenital adrenal hyperplasia (CAH) is a disorder of adrenal steroid synthesis. The symptoms and signs of CAH depend on the degree of enzyme deficiency; severe salt-wasting (SW) form, less severe simple virilizing (SV) form and mild nonclassic (NC) form. In this paper, puberty and fertility in CAH

  1. Seasonality of Congenital Anomalies in Europe

    NARCIS (Netherlands)

    Luteijn, Johannes Michiel; Dolk, Helen; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Bianchi, Fabrizio; Calzolari, Elisa; Draper, Elizabeth; Garne, Ester; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; McDonnell, Bob; Nelen, Vera; O'Mahony, Mary; Mullaney, Carmel; Queisser-Luft, Annette; Rankin, Judith; Tucker, David; Verellen-Dumoulin, Christine; de Walle, Hermien; Yevtushok, Lyubov

    BackgroundThis study describes seasonality of congenital anomalies in Europe to provide a baseline against which to assess the impact of specific time varying exposures such as the H1N1 pandemic influenza, and to provide a comprehensive and recent picture of seasonality and its possible relation to

  2. Drug safety in pregnancy - monitoring congenital anomalies

    NARCIS (Netherlands)

    Morgan, Margery; De Jong-Van Den Berg, Lolkje T. W.; Jordan, Sue

    Aim This paper outlines research into the causes of congenital anomalies, and introduces a pan-European study. The potential roles of nurses and midwives in this area are illustrated by a case report. Background Since the thalidomide disaster, use of drugs in pregnancy has been carefully monitored

  3. [A girl with congenital hemifacial hypertrophy

    NARCIS (Netherlands)

    Broeke, S.M. van den; Wolvius, E.B.; Adrichem, L.N. van; Baat, C. de

    2006-01-01

    A girl with congenital hemifacial hypertrophy had been observed and treated by a multidisciplinary team for craniofacial disorders in an academic medical centre since birth. At the age of 8 she was treated on account of considerable facial asymmetry and multiple intraoral problems. The two-step surg

  4. Drug safety in pregnancy - monitoring congenital anomalies

    NARCIS (Netherlands)

    Morgan, Margery; De Jong-Van Den Berg, Lolkje T. W.; Jordan, Sue

    2011-01-01

    Aim This paper outlines research into the causes of congenital anomalies, and introduces a pan-European study. The potential roles of nurses and midwives in this area are illustrated by a case report. Background Since the thalidomide disaster, use of drugs in pregnancy has been carefully monitored t

  5. Congenital anomalies after assisted reproductive technology

    DEFF Research Database (Denmark)

    Pinborg, Anja; Henningsen, Anna-Karina Aaris; Malchau, Sara Sofie

    2013-01-01

    Worldwide, more than 5 million children have been born after assisted reproductive technology (ART), and in many developed countries ART infants represent more than 1% of the birth cohorts. It is well known that ART children are at increased risk of congenital malformations even after adjustment ...

  6. Congenital cardiac anomalies in an English bulldog.

    Science.gov (United States)

    McConkey, Marina J

    2011-11-01

    A 4-year-old male castrated English bulldog was referred to the Atlantic Veterinary College for evaluation of exercise intolerance, multiple syncopal episodes, and a grade IV/VI heart murmur. The dog was shown to have 3 congenital cardiac anomalies: atrial septal defect, mitral valve dysplasia, and subaortic stenosis. Medical management consisted of exercise restriction, atenolol, pimobendan, and taurine.

  7. Congenital myopathy with fiber type disproportion

    DEFF Research Database (Denmark)

    Gerdes, A M; Petersen, M B; Schrøder, H D

    1994-01-01

    A patient with myopathy and congenital fiber type disproportion presented at birth with arthrogryposis multiplex congenita, dislocation of the hips and mild scoliosis. Later in life she developed marked muscle weakness. A balanced chromosomal translocation t(10;17) (p11.2;q25), transmitted by the...

  8. Familial occurrence of congenital bile duct dilatation

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    Congenital bile duct dilatation (CBD) that developed in a parent and son is presented.Familial occurrence of CBD is rare,with only a few male cases having been reported.Since the initial report of CBD occurring in siblings in 1981,a total of 20 cases (10 pairs) have been published as of 2007.Clinical and genetic features of CBD are discussed.

  9. [Relationship between congenital heart disease and bronchial dysplasia].

    Science.gov (United States)

    Zeng, Shuang-Lin; Li, Ya-Jun; Huang, Ting; Tan, Li-Hua; Mei, Xi-Long; Sun, Jian-Ning

    2011-11-01

    To study the relationship of the incidence of bronchial dysplasia (bronchial anomalous origin and bronchial stenosis) with congenital heart disease. A total of 185 children with congenital heart disease or bronchial dysplasia were enrolled. Bronchial dysplasia was identified by the 64-MSCT conventional scanning or thin slice scanning with three-dimensional reconstruction. Forty-five children (25.3%) had coexisting bronchial dysplasia and congenital heart disease. The incidence rate of bronchial dysplasia in children with congenital heart disease associated with ventricular septal defect was higher than in those without ventricular septal defect (33.7% vs 15.0%; Pdysplasia between the children with congenital heart disease who had a large vascular malformation and who did not. Bronchial dysplasia often occurs in children with congenital heart disease. It is necessary to perform a tracheobronchial CT scanning with three-dimensional reconstruction to identify tracheobronchial dysplasia in children with congenital heart disease, especially associated with ventricular septal defect.

  10. Congenital toxoplasmosis and prenatal care state programs.

    Science.gov (United States)

    Avelino, Mariza M; Amaral, Waldemar N; Rodrigues, Isolina M X; Rassi, Alan R; Gomes, Maria B F; Costa, Tatiane L; Castro, Ana M

    2014-01-18

    Control programs have been executed in an attempt to reduce vertical transmission and the severity of congenital infection in regions with a high incidence of toxoplasmosis in pregnant women. We aimed to evaluate whether treatment of pregnant women with spiramycin associated with a lack of monitoring for toxoplasmosis seroconversion affects the prognosis of patients. We performed a prospective cohort study with 246 newborns (NB) at risk for congenital toxoplasmosis in Goiânia (Brazil) between October 2003 and October 2011. We analyzed the efficacy of maternal treatment with spiramycin. A total of 40.7% (66/162) of the neonates were born seriously infected. Vertical transmission associated with reactivation during pregnancy occurred in 5.5% (9/162) of the NB, with one showing severe infection (systemic). The presence of specific immunoglobulins (fetal IgM and NB IgA) suggested the worst prognosis. Treatment of pregnant women by spiramycin resulted in reduced vertical transmission. When infected pregnant women did not undergo proper treatment, the risk of severe infection (neural-optical) in NB was significantly increased. Fetal IgM was associated with ocular impairment in 48.0% (12/25) of the fetuses and neonatal IgA-specific was related to the neuro-ophthalmologic and systemic forms of the disease. When acute toxoplasmosis was identified in the postpartum period, a lack of monitoring of seronegative pregnant women resulted in a higher risk of severe congenital infection. Treatment of pregnant women with spiramycin reduces the possibility of transmission of infection to the fetus. However, a lack of proper treatment is associated with the onset of the neural-optical form of congenital infection. Primary preventive measures should be increased for all pregnant women during the prenatal period and secondary prophylaxis through surveillance of seroconversion in seronegative pregnant woman should be introduced to reduce the severity of congenital infection in the

  11. Congenital obstructive posterior urethral membranes and recurrent urinary tract infection: a rare case of congenital hypertrophy of the verumontanum

    Directory of Open Access Journals (Sweden)

    Diana Bancin

    2016-07-01

    Full Text Available Congenital obstructive posterior urethral membranes (COPUM is a complex disease closely related to several pathological changes in kidney development and function, as a result of urinary reflux since in utero. This congenital anomaly of urinary tract potentially causes hydroureteronephrosis that is often associated with recurrent urinary tract infections and, ultimately, one of the most common causes of end-stage renal disease in children.1,2 Congenital hypertrophy of the verumontanum as part of COPUM is very rare. Only a few reports have been written on congenital hypertrophy of the vermontanum causing congenital obstructive uropathy.3-6

  12. Insight into Natural History of Congenital Vitiligo: A Case Report of a 23-Year-Old with Stable Congenital Vitiligo

    Directory of Open Access Journals (Sweden)

    Chelsea Casey

    2017-01-01

    Full Text Available Vitiligo is a disorder of skin pigmentation. It affects approximately 1% of the world’s population. Vitiligo occurs equally between the sexes with no racial predilections. The majority of cases are acquired and arise between the second and third decades of life. Acquired vitiligo has an unpredictable clinical course. Congenital vitiligo is rare with few reported cases. Due to the rarity of congenital vitiligo, little is known about the clinical course. For patients with acquired or congenital vitiligo, the psychosocial burden can have a profound impact on quality of life. The unknown course of congenital vitiligo can exacerbate the feelings of distress and embarrassment. We report of a case of congenital vitiligo that has been stable for 23 years. The patient had no associated autoimmune disease. The pathogenesis of congenital vitiligo is unknown. This case may be useful to assist clinicians caring for newborns with congenital vitiligo in reassuring parents.

  13. Displaced midshaft fractures of the clavicle: non-operative treatment versus plate fixation (Sleutel-TRIAL. A multicentre randomised controlled trial

    Directory of Open Access Journals (Sweden)

    Vos Dagmar I

    2011-08-01

    Full Text Available Abstract Background The traditional view that the vast majority of midshaft clavicular fractures heal with good functional outcomes following non-operative treatment may be no longer valid for all midshaft clavicular fractures. Recent studies have presented a relatively high incidence of non-union and identified speciic limitations of the shoulder function in subgroups of patients with these injuries. Aim A prospective, multicentre randomised controlled trial (RCT will be conducted in 21 hospitals in the Netherlands, comparing fracture consolidation and shoulder function after either non-operative treatment with a sling or a plate fixation. Methods/design A total of 350 patients will be included, between 18 and 60 years of age, with a dislocated midshaft clavicular fracture. The primary outcome is the incidence of non-union, which will be determined with standardised X-rays (Antero-Posterior and 30 degrees caudocephalad view. Secondary outcome will be the functional outcome, measured using the Constant Score. Strength of the shoulder muscles will be measured with a handheld dynamometer (MicroFET2. Furthermore, the health-related Quality of Life score (ShortForm-36 and the Disabilities of Arm, Shoulder and Hand (DASH Outcome Measure will be monitored as subjective parameters. Data on complications, bone union, cosmetic aspects and use of painkillers will be collected with follow-up questionnaires. The follow-up time will be two years. All patients will be monitored at regular intervals over the subsequent twelve months (two and six weeks, three months and one year. After two years an interview by telephone and a written survey will be performed to evaluate the two-year functional and mechanical outcomes. All data will be analysed on an intention-to-treat basis, using univariate and multivariate analyses. Discussion This trial will provide level-1 evidence for the comparison of consolidation and functional outcome between two standardised

  14. 腰间盘突出症的手术与非手术治疗%With the non operative treatment of lumbar disc herniation surgery

    Institute of Scientific and Technical Information of China (English)

    刘向阳; 杨宝来; 张辉

    2016-01-01

    目的:观察腰间盘突出症的手术与非手术治疗的疗效。方法选取2012年12月~2014年12月我院收治的腰间盘突出症患者300例作为研究对象,根据患者意愿,将其分为手术组和非手术组,各150例。分析对比两组患者的治疗总有效率。结果手术组的治疗总有效率为100.00%(150/150),非手术组为76.00%(114/150),差异有统计学意义(P<0.05)。结论对于患者来说,选择非手术治疗可以达到良好的治疗疗效,选择手术治疗时,应尽量选择对脊柱稳定性影响小的手术方法。%Objective With the non operative treatment of lumbar disc herniation surgery to observe the effect of.Methods This study selected in our hospital 300 cases of lumbar disc herniation patients (December December 2012~2014) will be divided into operation group and non operation group. Analysis and comparison of the two groups of patients with the total effective rate of treatment.Result The total effective rate was 100% (150/150) and 76% (114/150) in the surgery group (P<0.05).Conclusion For the patients with lumbar disc herniation, choose non surgical treatment can achieve good therapeutic effect, the choice of surgical treatment, should try to choose a small surgical methods infl uence on the stability of the spine.

  15. Airway tissue engineering for congenital laryngotracheal disease.

    Science.gov (United States)

    Maughan, Elizabeth; Lesage, Flore; Butler, Colin R; Hynds, Robert E; Hewitt, Richard; Janes, Sam M; Deprest, Jan A; Coppi, Paolo De

    2016-06-01

    Regenerative medicine offers hope of a sustainable solution for severe airway disease by the creation of functional, immunocompatible organ replacements. When considering fetuses and newborns, there is a specific spectrum of airway pathologies that could benefit from cell therapy and tissue engineering applications. While hypoplastic lungs associated with congenital diaphragmatic hernia (CDH) could benefit from cellular based treatments aimed at ameliorating lung function, patients with upper airway obstruction could take advantage from a de novo tissue engineering approach. Moreover, the international acceptance of the EXIT procedure as a means of securing the precarious neonatal airway, together with the advent of fetal surgery as a method of heading off postnatal co-morbidities, offers the revolutionary possibility of extending the clinical indication for tissue-engineered airway transplantation to infants affected by diverse severe congenital laryngotracheal malformations. This article outlines the necessary basic components for regenerative medicine solutions in this potential clinical niche. Copyright © 2016. Published by Elsevier Inc.

  16. Congenital Malalignment of the Great Toenail.

    Science.gov (United States)

    Fierro-Arias, Leonel; Morales-Martínez, André; Zazueta-López, Rosa María; Ramírez-Dovala, Silvia; Bonifaz, Alexandro; Ponce-Olivera, Rosa María

    2015-01-01

    Congenital malalignment of the great toenail (CMA) is a disorder of the anatomic orientation of the ungual apparatus, in which the longitudinal axis of the nail plate is not parallel with the axis of the distal phalanx but is deflected sideways. This disorder is understood to arise from multiple factors. Although many theories have been proposed about its origin, its pathogenesis is not fully known. Besides the cosmetic impact, this disorder causes such problems in the medium and long term as onychocryptosis and difficulty in motion. Some cases may regress spontaneously, although persistent cases may require a specialized surgical approach. Congenital malalignment of the great toenail is poorly understood and described medical condition that is often treated incorrectly; thus, reviewing the subject is important. A symptombased clinical classification system is proposed to guide diagnosis and treatment modality decisions.

  17. Reduced taste sensitivity in congenital blindness

    DEFF Research Database (Denmark)

    Gagnon, Lea; Kupers, Ron; Ptito, Maurice

    2013-01-01

    Sight is undoubtedly not only important for food identification and selection but also for the modulation of gustatory sensitivity. We can, therefore, assume that taste sensitivity and eating habits are affected by visual deprivation from birth. We measured taste detection and identification...... behavioral results showed that compared with the normal sighted, blind subjects have increased thresholds for taste detection and taste identification. This finding is at odds with the superior performance of congenitally blind subjects in several tactile, auditory and olfactory tasks. Our psychometric data...... further indicate that blind subjects more strongly rely on internal hunger and satiety cues, instead of external contextual or emotional cues, to decide when and what to eat. We suggest that the lower taste sensitivity observed in congenitally blind individuals is due to various blindness...

  18. CONGENITAL PSEUDOARTHOSIS OF TIBIA: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Madhukar

    2014-10-01

    Full Text Available Congenital pseudoarthosis of tibia is a rare condition. The incidence ranges from 1:140000 to 1:250000. 50 % to 90 % of the cases show association with neurofibromatosis stigmata including skin and osseous lesions. It is usually associated with a dysplastic segment of bone, which undergoes fracture after a trivial trauma or spontaneously. This fracture then goes into non-healing leading to pseudoarthosis. It is a difficult condition to treat and may be associated with complications. Treatment is mainly surgical, aiming at fracture union and maintaining limb length. This is a case report of a 6 year old boy, who presented with progressive deformity of right leg. He was diagnosed with congenital pseudoarthosis and treated accordingly with multiple osteotomies, bone grafting, intramedullary nailing and stabilization with ilizarao external fixator followed by cast immobilization. On follow up deformity was corrected and union was achieved.

  19. Congenital prosopagnosia: face-blind from birth.

    Science.gov (United States)

    Behrmann, Marlene; Avidan, Galia

    2005-04-01

    Congenital prosopagnosia refers to the deficit in face processing that is apparent from early childhood in the absence of any underlying neurological basis and in the presence of intact sensory and intellectual function. Several such cases have been described recently and elucidating the mechanisms giving rise to this impairment should aid our understanding of the psychological and neural mechanisms mediating face processing. Fundamental questions include: What is the nature and extent of the face-processing deficit in congenital prosopagnosia? Is the deficit related to a more general perceptual deficit such as the failure to process configural information? Are any neural alterations detectable using fMRI, ERP or structural analyses of the anatomy of the ventral visual cortex? We discuss these issues in relation to the existing literature and suggest directions for future research.

  20. Congenital Rickets: Report of Four Cases

    Directory of Open Access Journals (Sweden)

    Rahim Vakili

    2014-01-01

    Full Text Available Introduction: Vitamin D deficiency and rickets continue to be health problems in developing countries and most of the infants with congenital rickets may present with hypocalcemic seizure.   Case Report In this article, the report on four infants who presented with hypocalcemic seizures but subsequently were found to have congenital rickets is presented. All of them had hypocalcaemia and low level of serum 25- hydroxy vitamin D. Their mothers had not received vitamin D supplementation during pregnancy and so evidence of vitamin D deficiency was presented.   Conclusion: Although current vitamin D supplementation guidelines for infants was effective in prevention of rickets in Iranian children,  it is necessary to evaluate women before pregnancy  to prevent this entity. Also infants without vitamin D supplementation therapy who present with seizures during the first 6 months of age should undergo biochemical and other investigations for rickets.

  1. Congenital epulides: A rare case report

    Directory of Open Access Journals (Sweden)

    Saurabh Kumar

    2014-01-01

    Full Text Available Congenital epulis (CE or "Granular cell epulis" also previously termed as "Neumann′s tumor" is a benign growth arising from the mucosa of the gingiva, typically seen as a mass protruding from the infant′s mouth, often interfering with respiration and feeding. These tumors generally present as a single mass arising from the upper alveolus. We report a rare case of two congenital epulides arising from the maxillary and mandibular alveolus in a day old female infant, which was surgically excised, allowing for early initiation of breast feeding. The tumor cells stained negative for S100 protein hence differentiating from other granular cell tumors. The clinical presentation, differential diagnosis in regard to the various neonatal oral swellings and the management of CE has been discussed.

  2. Congenital osteofibrous dysplasia Campanacci: spontaneous postbioptic regression.

    Science.gov (United States)

    Jobke, Björn; Bohndorf, Klaus; Vieth, Volker; Werner, Mathias

    2014-04-01

    Osteofibrous dysplasia Campanacci is a rare benign bone tumor most frequently observed in young childhood. The exclusive localization in the tibia is very characteristic. The incidence of congenital primary bone tumors is an absolute rarity. We report a case of a newborn with a histologically proven osteofibrous dysplasia Campanacci at the tibia presenting a regular radiographic follow-up. After a small open biopsy and spontaneous minor fracture, the lesion rapidly remodeled within 1½ months and almost completely regressed with restutio ad integrum. Surgical intervention in this tumor entity at childhood age has been shown to have a high recurrence rate but due to lack of experience with newborns, guidelines do not exist. We analyze the radiologic and histologic differential diagnosis of juvenile adamantinoma and emphasize that congenital peripheral bone tumors should be treated conservatively when malignancy is excluded.

  3. Marital stability and congenital heart disease.

    Science.gov (United States)

    Silbert, A R; Newburger, J W; Fyler, D C

    1982-06-01

    The incidence of divorce or legal separation was studied in 438 families of children born with heart disease who entered the New England Regional Infant Cardiac Program between 1968 and 1973. The parents were interviewed when the children were 5 1/2 years old. The rate of divorce in 438 families of children with critical congenital heart disease was not significantly different from the rate in two comparison groups: (1) 25 families of children whose cardiac defect was spontaneously cured, and (2) 26 families of children catheterized in infancy for suspected cardiac defect but who were found to be free of heart disease. Rates of divorce or legal separation for the three groups were: critical congenital heart disease, 12.1%, spontaneously cured, 4.2% free of heart disease, 11.5% these rates were not significantly different. The average national divorce rate was 20.3% for the same period.

  4. Congenital cardiovascular malformations and the fetal circulation.

    Science.gov (United States)

    Rudolph, A M

    2010-03-01

    After birth, gas exchange is achieved in the lung, whereas prenatally it occurs in the placenta. This is associated with differences in blood flow patterns in the fetus as compared with the postnatal circulation. Congenital cardiovascular malformations are associated with haemodynamic changes in the fetus, which differ from those occurring postnatally. Obstruction to cardiac outflow may alter myocardial development, resulting in progressive ventricular hypoplasia. Alteration of oxygen content may profoundly influence pulmonary vascular and ductus arteriosus responses. Interference in blood flow and oxygen content may affect cerebral development as a result of inadequate oxygen or energy substrate supply. The circulatory effects may be gestational dependent, related to maturation of vascular responses in different organs. These prenatal influences of congenital cardiac defects may severely affect immediate, as well as longterm, postnatal prognosis and survival. This has stimulated the development of techniques for palliation of disturbed circulation during fetal life.

  5. Screening, prevention, and treatment of congenital cytomegalovirus.

    Science.gov (United States)

    Johnson, Julie; Anderson, Brenna

    2014-12-01

    Congenital cytomegalovirus (CMV) is a leading cause of permanent disability in children. The main source of maternal infection is from contact with young children. Primary maternal infection is diagnosed with demonstration of seroconversion or a positive CMV IgM in combination with a low-avidity CMV IgG. Fetal infection may be diagnosed with amniotic fluid polymerase chain reaction and culture. CMV-specific hyperimmune globulin has shown promise as a possible means to prevent congenital infection; large randomized trials are ongoing. To date, the only effective means of prevention is through reducing exposure to the virus. Rates of maternal infection may be reduced through education regarding sources of infection and improved hygiene.

  6. Enhanced heat discrimination in congenital blindness

    DEFF Research Database (Denmark)

    Slimani, Hocine; Ptito, Maurice; Kupers, Ron

    2015-01-01

    There is substantial evidence that congenitally blind individuals perform better than normally sighted controls in a variety of auditory, tactile and olfactory discrimination tasks. However, little is known about the capacity of blind individuals to make fine discriminatory judgments in the thermal...... discrimination. Thermal stimuli were delivered with either a 2.56 or 9 cm(2) Peltier-based thermode. We applied for 5-8s lasting non-painful thermal stimuli to the forearm and asked participants to detect small increments in temperature (ΔT = 0.4, 0.8, 1.2 or 1.6°C) that occurred at random time intervals. Blank...... of the stimulated skin surface or magnitude of the temperature shift. Increasing the size of the stimulated skin area increased the response criterion in the blind (p=0.022) but not in the sighted. Together, these findings show that congenitally blind individuals have enhanced temperature discrimination accuracy...

  7. THE CONGENITAL MOTOR DISABILITY EXPERIENCED AS COMMONSENSE

    Directory of Open Access Journals (Sweden)

    Jolita Viluckienė

    2016-09-01

    Full Text Available The article applies Alfred Schutz’s phenomenologically grounded sociological perspective to explore how persons with a congenital motor disability or having a disability ever since their childhood construct and maintain their significant social reality through subjective meanings and how they interpret their disabled bodies. Their personal narratives are based on qualitative in-depth interviews and suggest that these persons face the disability only during secondary socialization, after internalization of social typifications of disabled body of negative meaning, the overcoming of which and successful socialization requires the involvement into new social group or community, i.e., into a positive social structure, confirming their identity. This article performs cognitive function and contributes to the social workers‘ understanding and knowledge building in order to get a re-evaluating the social needs of people with congenital physical disability.

  8. Current management options for displaced intra-articular calcaneal fractures: Non-operative, ORIF, minimally invasive reduction and fixation or primary ORIF and subtalar arthrodesis. A contemporary review.

    Science.gov (United States)

    Sharr, P J; Mangupli, M M; Winson, I G; Buckley, R E

    2016-03-01

    Management of Displaced Intra-articular Calcaneal Fractures (DIACFs) continues to be technically demanding. The literature has not been definitive in its guidance for surgeons dealing with these injuries. Recent publications have further added to the lack of clarity. This review is intended to summarise the present state of knowledge, and provide some genuine guidance for clinicians. To review previous research, focussing on articles published within the last fifteen years, and summarise the findings to aid surgeons in managing DIACFs with choosing best management for patients. We reviewed the best evidence and literature, focussing on articles published within the last fifteen years, and summarised findings into workable recommendations. Variables of (1) patient, (2) the associated soft tissue injury and (3) the fracture characteristics were used to aid surgeons in choosing the best of the available options for each patient that presents with a DIACF. Management of DIACFs can best be divided into four broad categories: (i) non-operative management, (ii) open reduction and internal fixation, (iii) minimally invasive reduction and fixation, and (iv) primary subtalar arthrodesis. The evolution of the literature would suggest orthopaedic surgeons managing calcaneus fractures should have an expert's knowledge, surgical expertise and the latest techniques to cover these four options, to tailor the treatment of DIACFs to the individual patient. Copyright © 2015 European Foot and Ankle Society. Published by Elsevier Ltd. All rights reserved.

  9. Scoliosis Research Society (SRS) Criteria and Society of Scoliosis Orthopaedic and Rehabilitation Treatment (SOSORT) 2008 Guidelines in Non-Operative Treatment of Idiopathic Scoliosis.

    Science.gov (United States)

    Korbel, Krzysztof; Kozinoga, Mateusz; Stoliński, Łukasz; Kotwicki, Tomasz

    2014-07-28

    According to the Scoliosis Research Society (SRS), idiopathic scoliosis (IS) is a curvature of more than 10° Cobb angle, affecting 2-3% of pediatric population. Idiopathic scoliosis accounts for 80% of all scoliosis cases. Non-operative principles in the therapy of idiopathic scoliosis, including Scoliosis Research Society (SRS) criteria and guidelines proposed by the experts of the Society on Scoliosis Orthopedic and Rehabilitation Treatment (SOSORTS) were presented. The possibility to carry out quality of life assessments in a conservative procedure was also demonstrated. Based on the natural history of idiopathic scoliosis, SRS criteria, SOSORT 2008 experts' opinion and the knowledge of the possibilities of psychological assessment of conservative IS treatment, rules were proposed regarding nonsurgical IS therapy procedures, with special consideration being paid to the proper treatment start time (age, Risser test, biological maturity, Cobb angle), possibility of curvature progression, the importance of physiotherapy and psychological assessment. The knowledge of SRS criteria and SOSORT guidelines regarding the conservative treatment of IS are essential for proper treatment (the right time to start treatment), and supports establishment of interdisciplinary treatment teams, consisting of a physician, a physiotherapist, an orthopedic technician and a psychologist.

  10. Recurrent congenital heart block in neonatal lupus.

    Science.gov (United States)

    Escobar, Maria C; Gómez-Puerta, José A; Albert, Dimpna; Ferrer, Queralt; Girona, Josep

    2007-07-01

    Congenital heart block (CHB) is the main complication of neonatal lupus (NL) and is strongly associated with the presence of anti-SSA/Ro and anti-SSB/La antibodies. The recurrence of CHB in subsequent pregnancies in mothers with these antibodies is uncommon, occurring in approximately 15% of cases. We describe here a case of recurrent CHB in a previously asymptomatic mother with Sjögren syndrome and discuss the current strategies for the prevention and treatment of CHB in NL.

  11. Airway tissue engineering for congenital laryngotracheal disease

    OpenAIRE

    Maughan, E.; Lesage, F; Butler, C. R.; Hynds, R.E. (Robert E.); Hewitt, R; Janes, S. M.; Deprest, J. A.; Coppi, P. D.

    2016-01-01

    Regenerative medicine offers hope of a sustainable solution for severe airway disease by the creation of functional, immunocompatible organ replacements. When considering fetuses and newborns, there is a specific spectrum of airway pathologies that could benefit from cell therapy and tissue engineering applications. While hypoplastic lungs associated with congenital diaphragmatic hernia (CDH) could benefit from cellular based treatments aimed at ameliorating lung function, patients with upper...

  12. Congenital pancreatic pseudocyst presenting as neonatal ascites

    Directory of Open Access Journals (Sweden)

    M. Alzaiem

    2016-08-01

    Full Text Available Congenital pancreatic pseudocysts are extremely rare in infants and very few cases have been reported in the literature. We are reporting a case of 2-month-old infant with pancreatic pseudocyst. He presented with progressive abdominal distension and large bilateral hydrocele. The diagnosis was based on the operative findings and further confirmed by histopathological examination of the wall of pseudocyst. Later on the patient was operated by laparoscopic assisted transgastric cystogastrostomy technique.

  13. Rhinoplasty: congenital deficiencies of the alar cartilage.

    Science.gov (United States)

    Kosins, Aaron M; Daniel, Rollin K; Sajjadian, Ali; Helms, Jill

    2013-08-01

    Congenital deficiencies of the alar cartilages are rare and often visible at birth but can occasionally present later. The authors review the anatomical development and discuss the incidence and treatment of congenital defects within the alar cartilages seen in rhinoplasty cases. The charts of 869 consecutive patients who underwent open rhinoplasty were retrospectively reviewed, and 8 cases of congenital defects of the alar cartilage within the middle crura were identified. Intraoperative photographs were taken of the alar deformities, and each patient underwent surgical correction. To simplify analysis, a classification of the defects was developed. A division was a cleft in the continuity of the alar cartilage with the 2 ends separate. A gap was a true absence of cartilage ranging from 1 to 4 mm, which can be accurately assessed in unilateral cases. A segmental loss was a defect greater than 4 mm. The 8 cases of deformity could be classified as 4 divisions, 3 gaps, and 1 segmental loss. None of the patients had a history of prior nasal trauma or nasal surgery. Six patients were women and 2 patients were men. In all cases, adequate projection and stability were achieved with a columellar strut. Asymmetry was minimized through concealer or tip grafts. There were no complications. Surgeons performing rhinoplasty surgery will encounter and should be prepared to deal with unexpected congenital defects of the alar cartilage. These defects within the middle crura will require stabilization with a columellar strut and, often, coverage with a concealer tip graft. We speculate that the cause of these defects is a disruption of the hedgehog signals that may arrest the condensation or block the differentiation of the underlying neural crest cells.

  14. Congenital Diarrheal Disorders: An Updated Diagnostic Approach

    Directory of Open Access Journals (Sweden)

    Giuseppe Castaldo

    2012-03-01

    Full Text Available Congenital diarrheal disorders (CDDs are a group of inherited enteropathies with a typical onset early in the life. Infants with these disorders have frequently chronic diarrhea of sufficient severity to require parenteral nutrition. For most CDDs the disease-gene is known and molecular analysis may contribute to an unequivocal diagnosis. We review CDDs on the basis of the genetic defect, focusing on the significant contribution of molecular analysis in the complex, multistep diagnostic work-up.

  15. Severe congenital malaria acquired in utero.

    Science.gov (United States)

    Poespoprodjo, Jeanne R; Hasanuddin, Afdal; Fobia, Wendelina; Sugiarto, Paulus; Kenangalem, Enny; Lampah, Daniel A; Tjitra, Emiliana; Price, Ric N; Anstey, Nicholas M

    2010-04-01

    Vertical transmission of Plasmodium falciparum is under-recognized and usually associated with asymptomatic low-level parasitemia at birth. We report symptomatic congenital malaria presenting as a neonatal sepsis syndrome. The presence at birth of a high asexual parasitemia, gametocytemia, and splenomegaly indicated in utero rather than intrapartum transmission. The neonate was successfully treated with intravenous artesunate followed by oral dihydroartemisinin-piperaquine, without apparent adverse effects.

  16. A Rare Case of Congenital Diabetes Insipidus

    OpenAIRE

    Tanvi eRege; Srujana ePolsani; Belinda eJim

    2015-01-01

    Congenital nephrogenic diabetes insipidus (NDI) is a conformation disease resulting from protein misfolding. Ninety percent of mutations result from the inactivating mutations of the arginine vasopressin receptor 2 (AVPR2) gene transmitted in an X-linked fashion, blocking the response to vasopressin, resulting in the inability to concentrate urine. Clinical features include polyuria, polydipsia, dehydration, and hypernatremia. They are generally more severely in affected males but present va...

  17. A Rare Case of Congenital Diabetes Insipidus

    OpenAIRE

    Rege, Tanvi; Polsani, Srujana; Jim, Belinda

    2015-01-01

    Congenital nephrogenic diabetes insipidus (NDI) is a conformation disease resulting from protein misfolding. Ninety percent of mutations result from the inactivating mutations of the arginine vasopressin receptor 2 (AVPR2) gene transmitted in an X-linked fashion, blocking the response to vasopressin, resulting in the inability to concentrate urine. Clinical features include polyuria, polydispsia, dehydration, and hypernatremia. They are generally more severely in affected males but present va...

  18. Congenital left atrial appendage aneurysm: Atypical presentation

    Directory of Open Access Journals (Sweden)

    Mehdi Bamous

    2017-01-01

    Full Text Available Congenital left atrial appendage aneurysm is a rare condition caused by dysplasia of the atrial muscles. We report a case of a 14-year-old boy, with a 5-month history of cough and in sinus rhythm. Transthoracic echocardiography and computerized tomographic angiography confirmed the aneurysm of the left atrial appendage which was resected through median sternotomy on cardiopulmonary bypass. This case is presented not only for its rarity but also for its atypical clinical presentation.

  19. Congenital melanocytic nevi: Catch them early!

    Directory of Open Access Journals (Sweden)

    Karthika Natarajan

    2013-01-01

    Full Text Available We report a 2-week-old neonate with a large congenital melanocytic nevus over face treated with surgical curettage followed by a combination of carbon dioxide laser and Q-switched neodymium-doped yttrium aluminum garnet lasers. The results were satisfactory with near complete resolution after 1 year of age. This case is reported to emphasize the timely management and the importance of curettage prior to development of rete ridges.

  20. Congenital malformations of the skull and meninges.

    Science.gov (United States)

    Kanev, Paul M

    2007-02-01

    The surgery and management of children who have congenital malformations of the skull and meninges require multidisciplinary care and long-term follow-up by multiple specialists in birth defects. The high definition of three-dimensional CT and MRI allows precise surgery planning of reconstruction and management of associated malformations. The reconstruction of meningoencephaloceles and craniosynostosis are challenging procedures that transform the child's appearance. The embryology, clinical presentation, and surgical management of these malformations are reviewed.

  1. Congenital long QT syndrome in children

    Directory of Open Access Journals (Sweden)

    Cerović Ivana

    2016-01-01

    Full Text Available Long QT syndrome (LQTS is a cardiac repolarization disorder characterized by prolonged QT interval on the electrocardiogram (ECG and increased propensity to ventricular tachyarrhythmias and cardiac events. LQTS might be acquired or congenital, which presents a group of channelopathies that occur due to mutation in one of 15 so far identified genes. The most frequent types of congenital LTQS are LQT1, LQT2 and LQT3. Prolonged or delayed repolarization leads to the increase of action potential duration which predisposes early afterdepolarization, as well as the amplification of transmural dispersion of repolarization, both contributing to the development of Torsades de Pointes ventricular tachycardia. Clinical manifestations of LQTS are palpitations, syncope, aborted cardiac arrest or sudden cardiac death, but it can also be asymptomatic. Trigger factors for symptoms are specific for certain genotype. LQTS examination includes thorough clinical and family history focused on distinctive data (repeated syncopes, cases of sudden cardiac death in the family, hereditary arrhythmias, resting ECG, exercise stress testing and genetic analysis, with additional methods (serial ECG records, 24h ECG Holter, epinephrine test. Clinical LQTS diagnosis is based on Schwartz's scoring system, while the criteria for final diagnosis of LQTS depend on Schwartz's score, QT interval duration, presence of pathogenic mutation and clinical symptoms. Treatment approach begins with lifestyle modifications and β-blockers therapy, while other options include implantable cardioverter- defibrillator, permanent pacemaker or surgical sympathectomy. Sudden cardiac death is the reason of 90% of sudden deaths in young athletes, while LQTS is one of its causes. Recommendations for physical activities in children with congenital LQTS arise from the ones for adults and they presume very strict limitations. Further researches are expected to advance the understanding of genotype

  2. Reduced taste sensitivity in congenital blindness.

    Science.gov (United States)

    Gagnon, Lea; Kupers, Ron; Ptito, Maurice

    2013-07-01

    Sight is undoubtedly not only important for food identification and selection but also for the modulation of gustatory sensitivity. We can, therefore, assume that taste sensitivity and eating habits are affected by visual deprivation from birth. We measured taste detection and identification thresholds of the 5 basic tastants in 13 congenitally blind and 13 sighted control subjects. Participants also answered several eating habits questionnaires, including the Food Neophobia Scale, the Food Variety Seeking Tendency Scale, the Intuitive Eating Scale, and the Body Awareness Questionnaire. Our behavioral results showed that compared with the normal sighted, blind subjects have increased thresholds for taste detection and taste identification. This finding is at odds with the superior performance of congenitally blind subjects in several tactile, auditory and olfactory tasks. Our psychometric data further indicate that blind subjects more strongly rely on internal hunger and satiety cues, instead of external contextual or emotional cues, to decide when and what to eat. We suggest that the lower taste sensitivity observed in congenitally blind individuals is due to various blindness-related obstacles when shopping for food, cooking and eating out, all of which contribute to underexpose the gustatory system to a larger variety of taste stimuli.

  3. Ocular pathology in congenital heart disease.

    Science.gov (United States)

    Mansour, A M; Bitar, F F; Traboulsi, E I; Kassak, K M; Obeid, M Y; Megarbane, A; Salti, H I

    2005-01-01

    To describe the ocular findings in subjects with congenital heart disease (CHD). In a prospective study, the same observer examined 240 consecutive patients with CHD admitted to the medical centre. Two independent geneticists performed identification of syndromes. The commonest anatomic cardiac anomalies were ventricular or atrial septal defects (62), tetralogy of Fallot (39), pulmonary stenosis (25), and transposition of the great arteries (24). The heart lesions were divided physiologically into volume overload (90), cyanotic (87), and obstructive (63). In all, 105 syndromic subjects included the velocardiofacial syndrome (18), Down's syndrome (17), CHARGE association (6), DiGeorge syndrome (5), Williams syndrome (3), Edwards syndrome (3), Noonan syndrome (3), VACTERL association (2), and Patau syndrome (trisomy 13) (2). The paediatric team recognized 51 patients as syndromic. Two independent geneticists recognized additional 54 patients as syndromic. Positive eye findings were present in 55% (132) and included retinal vascular tortuosity (46), optic disc hypoplasia (30), trichomegaly (15), congenital ptosis (12), strabismus (11), retinal haemorrhages (8), prominent eyes (7), and congenital cataract (6). There was a strong correlation between the retinal vascular tortuosity and both a low haematocrit (P=0.000) and a low arterial oxygen saturation (P=0.002). Patients with CHD are at a high risk for ocular pathology and need screening for various ocular abnormalities.

  4. Congenital anomalies and proximity to landfill sites.

    LENUS (Irish Health Repository)

    Boyle, E

    2004-01-01

    The occurrence of congenital anomalies in proximity to municipal landfill sites in the Eastern Region (counties Dublin, Kildare, Wicklow) was examined by small area (district electoral division), distance and clustering tendancies in relation to 83 landfills, five of which were major sites. The study included 2136 cases of congenital anomaly, 37,487 births and 1423 controls between 1986 and 1990. For the more populous areas of the region 50% of the population lived within 2-3 km of a landfill and within 4-5 km for more rural areas. In the area-level analysis, the standardised prevalence ratios, empirical and full Bayesian modelling, and Kulldorff\\'s spatial scan statistic found no association between the residential area of cases and location of landfills. In the case control analysis, the mean distance of cases and controls from the nearest landfill was similar. The odds ratios of cases compared to controls for increasing distances from all landfills and major landfills showed no significant difference from the baseline value of 1. The kernel and K methods showed no tendency of cases to cluster in relationship to landfills. In conclusion, congenital anomalies were not found to occur more commonly in proximity to municipal landfills.

  5. Clinical presentation and management of congenital ptosis

    Science.gov (United States)

    Marenco, Marco; Macchi, Ilaria; Macchi, Iacopo; Galassi, Emilio; Massaro-Giordano, Mina; Lambiase, Alessandro

    2017-01-01

    Congenital ptosis is a rare condition characterized by lower positioning of the upper eyelid that is present at birth and is a clinical condition that is persistent if not treated. It may be unilateral or bilateral and may be associated with other ocular disorders or systemic conditions, including Marcus Gunn, Horner, and Duane syndromes. It is a benign condition but causes functional, cosmetic, and psychological problems in children. However, not all patients need to undergo surgery, and usually only patients at risk of amblyopia need a prompt surgical correction, while in other cases, surgery can be postponed. The grade of ptosis, the eyelid function, and the amblyopic risk are the parameters that affect the ophthalmologist’s decision on timing of surgery and the surgical technique to be used. In fact, there are several types of surgical techniques to correct a congenital ptosis, although very often more than one is needed to obtain an acceptable result. This paper reviews the causes of congenital ptosis and associated diseases. Particular emphasis is given to surgical management and different procedures available to correct the upper eyelid anomaly and avoid permanent damage to visual function. PMID:28280295

  6. Congenital Unilateral Hypoplasia of Depressor Anguli Oris

    Directory of Open Access Journals (Sweden)

    Seckin O. Ulualp

    2012-01-01

    Full Text Available Objectives. Asymmetric facial appearance may originate from abnormalities of facial musculature or facial innervation. We describe clinical features of congenital hypoplasia of depressor anguli oris muscle in a child. Material and Methods. Chart of a 10-month-old female referred to a tertiary care pediatric hospital for assessment of facial paralysis was reviewed. Data included relevant history and physical examination, diagnostic work up, and management. Results. The child presented with asymmetric movement of lower lip since birth. Asymmetry of lower lip was more pronounced when she smiled and cried. Rest of the face movement was symmetric. On examination, the face appeared symmetric at rest. The child had inward deviation of right lower lip when she smiled. Facial nerve function, as determined by frowning/forehead, wrinkling, eye closure, nasolabial fold depth, and tearing, was symmetric. Magnetic resonance imaging of the temporal bones and internal auditory canals were within normal limits. Echocardiogram did not show cardiac abnormality. Auditory brainstem response showed no abnormality. Conclusions. Congenital hypoplasia of depressor anguli oris is a rare anomaly that causes asymmetric crying face. Pediatricians and otolaryngologists need to be cognizant of cardiac, head and neck, and central nervous system anomalies associated with congenital unilateral hypoplasia of depressor anguli oris.

  7. Congenital and infantile cataract: aetiology and management.

    Science.gov (United States)

    Chan, Wai H; Biswas, Susmito; Ashworth, Jane L; Lloyd, I Christopher

    2012-04-01

    Congenital cataract is the commonest worldwide cause of lifelong visual loss in children. Although congenital cataracts have a diverse aetiology, in many children, a cause is not identified; however, autosomal dominant inheritance is commonly seen. Early diagnosis either on the post-natal ward or in the community is important because appropriate intervention can result in good levels of visual function. However, visual outcome is largely dependent on the timing of surgery when dense cataracts are present. Good outcomes have been reported in children undergoing surgery before 6 weeks of age in children with unilateral cataract and before 10 weeks of age in bilateral cases. Placement of an artificial intraocular lens implant after removal of the cataract has become established practice in children over 2 years of age. There remains debate over the safety and predictability of intraocular lens implantation in infants. Despite early surgery and aggressive optical rehabilitation, children may still develop deprivation amblyopia, nystagmus, strabismus, and glaucoma. The diagnosis and management of congenital cataracts has improved substantially over the past 30 years with a concurrent improvement in outcomes for affected children. Many aspects of the pre-, intra-, and postoperative management of these patients continue to be refined, highlighting the need for good quality data and prospective collaborative studies in this field.

  8. CONGENITAL MYOTONIC DYSTROPHY – CASE REPORT

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    David Neubauer

    2001-07-01

    Full Text Available Background. Myotonic dystrophy is inherited as an autosomal dominant trait. It is characterized by myotonia, myopathy of voluntary and involuntary muscles, frontal baldness in men, cardiac conduction abnormalities, catharacts, intellectual deterioration and endocrinopathy. Men with this disorder have often gonadal atrophy and infertility. On the other hand women are generally fertile. During pregnancy their myopathy worsens, often causing severe obstetrical complications. Their children may develop congenital form of the disease with signs of myopathy in utero and have great difficulties in maintaining life functions after birth, together with other characteristical signs of this form: bilateral facial weakness, severe hypotonia, feeding difficulties, talipes equinovarus and mental retardation. The authors present a female newborn with such congenital form of myotonic dystrophy.Conclusions. The authors have emphasized the importance of medical history, regular updating of all the cases of neuromuscular diseases in the region and clinical characteristics for the recognition of congenital form of myotonic dystrophy because of possible prenatal diagnostics and better antenatal and postantal care.

  9. Congenital granular cell epulis of a newborn

    Directory of Open Access Journals (Sweden)

    Kshitij O Bang

    2012-01-01

    Full Text Available The congenital granular cell epulis (CGCE is a rare tumor, which is apparent at birth. The histogenesis is still uncertain, but several theories, including origin from epithelial, undifferentiated mesenchymal cells, pericytes, fibroblasts, smooth muscle cells, and nerve-related cells have been proposed. This case report describes management of a 2-day-old baby girl having a large, round, soft, single 3 × 4 cm, pedunculated swelling, on the lower anterior ridge, which was causing difficulty in feeding. Clinical diagnosis of congenital epulis (CE was made and lesion was excised under conscious sedation. A vessel running over the surface of the lesion was continuous on the alveolar ridge. To reduce intra-operative hemorrhage transfixion suture was passed around the vessel on the alveolar ridge. Then the lesion was excised from the base of peduncle with a scalpel. Histopathologically, the diagnosis of a congenital granular cell lesion of the jaw was given. Follow up of 3 months shows no signs of recurrence. CGCE may interfere with feeding, requiring a conservative excision as soon as the child is fit to undergo surgery. Tendency for recurrence and malignant transformation has not been documented.

  10. Congenital defects of the pericardium: a review.

    Science.gov (United States)

    Shah, Ankit B; Kronzon, Itzhak

    2015-08-01

    Pericardial defects are a rare disorder that can be characterized as acquired or congenital. Congenital defects can be further characterized by location and size of the defect, e.g. left- or right-sided and partial or complete absence of the pericardium. While physical examination and electrocardiogram are not diagnostic, chest radiographs and echocardiography have findings that should alert the clinician to the absence of the pericardium as a possible diagnosis. Despite its limitations with visualizing the normal pericardium in areas of minimal adipose, cardiac magnetic resonance is currently the gold standard for diagnosing the congenital absence of the pericardium. Patients have a similar life expectancy to those without pericardial defects; however in certain cases, herniation and strangulation of cardiac chambers can be life threatening and lead to sudden cardiac death. Treatment is tailored to the patient's symptoms, presentation, and the size and location of the defect. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2015. For permissions please email: journals.permissions@oup.com.

  11. An integrated diagnosis strategy for congenital myopathies.

    Directory of Open Access Journals (Sweden)

    Johann Böhm

    Full Text Available Congenital myopathies are severe muscle disorders affecting adults as well as children in all populations. The diagnosis of congenital myopathies is constrained by strong clinical and genetic heterogeneity. Moreover, the majority of patients present with unspecific histological features, precluding purposive molecular diagnosis and demonstrating the need for an alternative and more efficient diagnostic approach. We used exome sequencing complemented by histological and ultrastructural analysis of muscle biopsies to identify the causative mutations in eight patients with clinically different skeletal muscle pathologies, ranging from a fatal neonatal myopathy to a mild and slowly progressive myopathy with adult onset. We identified RYR1 (ryanodine receptor mutations in six patients and NEB (nebulin mutations in two patients. We found novel missense and nonsense mutations, unraveled small insertions/deletions and confirmed their impact on splicing and mRNA/protein stability. Histological and ultrastructural findings of the muscle biopsies of the patients validated the exome sequencing results. We provide the evidence that an integrated strategy combining exome sequencing with clinical and histopathological investigations overcomes the limitations of the individual approaches to allow a fast and efficient diagnosis, accelerating the patient's access to a better healthcare and disease management. This is of particular interest for the diagnosis of congenital myopathies, which involve very large genes like RYR1 and NEB as well as genetic and phenotypic heterogeneity.

  12. Neutropenia in Congenital and Adult Babesiosis.

    Science.gov (United States)

    Wormser, Gary P; Villafuerte, Patrick; Nolan, Sheila M; Wang, Guiqing; Lerner, Robert G; Saetre, Kirsten L; Maria, Mazen H; Branda, John A

    2015-07-01

    Anemia and thrombocytopenia are expected hematologic abnormalities in patients with acute babesiosis, whereas neutropenia (defined as an absolute neutrophil count of ≤1,800 neutrophils/μL for adults and babesiosis. The frequency of neutropenia in cases of congenital babesiosis was determined based on a literature review and on the findings in an unreported case. The frequency of neutropenia in adult patients was assessed based on a review of the medical records of 51 patients who were diagnosed with babesiosis between 2010 and 2013 at two medical centers in the Northeastern United States. Four (80%; 95% confidence interval [CI], 36%-98%) of five infants with congenital babesiosis whose neutrophil count was reported were neutropenic. Among 51 adult cases with babesiosis, 11 (22%; 95% CI, 12%-35%) were neutropenic on clinical presentation, and seven others developed neutropenia over the next 1 to 21 days. Thus, a total of 18 (35%; 95% CI, 24%-49%) of the adult patients with babesiosis had neutropenia. Neutropenia appears to be a common finding in infants with congenital babesiosis and is also observed not infrequently in adults with this infection. Copyright© by the American Society for Clinical Pathology.

  13. Congenital Malformations in River Buffalo (Bubalus bubalis

    Directory of Open Access Journals (Sweden)

    Sara Albarella

    2017-02-01

    Full Text Available The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival. This review depicts, in the river buffalo (Bubalus bubalis world population, the present status of the congenital malformations, due to genetic causes, to identify their frequency and distribution in order to develop genetic breeding plans able to improve the productive and reproductive performance, and avoid the spreading of detrimental gene variants. Congenital malformations most frequently reported in literature or signaled by breeders to the Department of Veterinary Medicine and Animal Production of the University Federico II (Naples, Italy in river buffalo are: musculoskeletal defects (transverse hemimelia, arthrogryposis, umbilical hernia and disorders of sexual development. In conclusion this review put in evidence that river buffalo have a great variety of malformations due to genetic causes, and TH and omphalocele are the most frequent and that several cases are still not reported, leading to an underestimation of the real weight of genetic diseases in this species.

  14. MR findings of congenital anorectal malformation

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Yoo Kyung; Kim, Hyae Young; Kwag, Hyon Joo; Chung, Eun Chul; Lee, Jung Sik; Suh, Jeong Soo [Ewha Womens University, medical College, Seoul (Korea, Republic of)

    1995-05-15

    To assess the usefulness of MRI in preoperative diagnosis of congenital anorectal malformation. MR findings of 11 cases with surgically proved anorectal malformations were retrospectively reviewed and compared with operative findings, according to the level of atresia, the development of sphincter muscle, fistula and associated anomalies of other organs. Four of 11 cases were low type of anorectal atresia, 3 cases were intermediate type, and 3 cases were high type. There was one case of Currarino triad with low type of anorectal stenosis. MRI demonstrated the levels of atresia correctly in all cases and revealed fistulas in all high type of anomalies. Degrees of the development of the sphincter muscles were good in all cases of low types and fair in a case of intermediate type and an anorectal stenosis, whereas the development was poor in 2 cases of intermediate type and all 4 cases of high type. The associated anomalies in anorectal malformation were renal agenesis, congenital hip dysplasia and sacral defect with presacral teratoma in Currarino triad. MRI was a simple and useful study to confirm the level of atresia, fistula and associated anomalies in the diagnosis of the congenital anorectal malformation.

  15. High Prevalence of Associated Birth Defects in Congenital Hypothyroidism

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    Alok Sachan

    2010-01-01

    Full Text Available Aim. To identify dysmorphic features and cardiac, skeletal, and urogenital anomalies in patients with congenital hypothyroidism. Patients and Methods. Seventeen children with congenital primary hypothyroidism were recruited. Cause for congenital hypothyroidism was established using ultrasound of thyroid and T99mc radionuclide thyroid scintigraphy. Malformations were identified by clinical examination, echocardiography, X-ray of lumbar spine, and ultrasonography of abdomen. Results. Ten (59% patients (6 males and 4 females had congenital malformations. Two had more than one congenital malformation (both spina bifida and ostium secundum atrial septal defect. Five (29% had cardiac malformations, of whom three had only osteum secundum atrial septal defect (ASD, one had only patent ductus arteriosus (PDA, and one patient had both ASD and PDA. Seven patients (41% had neural tube defects in the form of spina bifida occulta. Conclusion. Our study indicates the need for routine echocardiography in all patients with congenital hypothyroidism.

  16. ISOLATED CONGENITAL CHOLESTEATOMA OF THE MASTOID PROCESS: A CASE REPORT

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    Shankar

    2014-11-01

    Full Text Available Congenital Cholesteatomas have historically been considered a rare disorder, an incidence ranging from 4 to 24%. The most common sites of presentation on physical examination are Anterior superior and posterior superior quadrants of the tympanic membrane; conductive hearing loss is the most common presenting symptom. There is a lack of uniformity of reporting and classifying congenital cholesteatomas. Recidivism of the lesion appears more commonly with posterior superior congenital cholesteatomas. Treatment of Congenital Cholesteatoma is still surgical. We are here presenting a case of isolated congenital cholesteatoma in Mastoid process treated with modified radical mastoidectomy and tympanoplasty, patient followed up to one year no recurrent was found, hearing also improved, heightened awareness and early diagnosis of congenital cholesteatoma is imperative, early treatment decreases the extent of the disease and reduces the risk of recidivism and complications.

  17. High Prevalence of Associated Birth Defects in Congenital Hypothyroidism

    Directory of Open Access Journals (Sweden)

    Suresh V

    2010-05-01

    Full Text Available Aim. To identify dysmorphic features and cardiac, skeletal, and urogenital anomalies in patients with congenital hypothyroidism. Patients and Methods. Seventeen children with congenital primary hypothyroidism were recruited. Cause for congenital hypothyroidism was established using ultrasound of thyroid and radionuclide thyroid scintigraphy. Malformations were identified by clinical examination, echocardiography, X-ray of lumbar spine, and ultrasonography of abdomen. Results. Ten (59% patients (6 males and 4 females had congenital malformations. Two had more than one congenital malformation (both spina bifida and ostium secundum atrial septal defect. Five (29% had cardiac malformations, of whom three had only osteum secundum atrial septal defect (ASD, one had only patent ductus arteriosus (PDA, and one patient had both ASD and PDA. Seven patients (41% had neural tube defects in the form of spina bifida occulta. Conclusion. Our study indicates the need for routine echocardiography in all patients with congenital hypothyroidism.

  18. Genetics of Congenital Heart Disease: Past and Present.

    Science.gov (United States)

    Muntean, Iolanda; Togănel, Rodica; Benedek, Theodora

    2016-11-02

    Congenital heart disease is the most common congenital anomaly, representing an important cause of infant morbidity and mortality. Congenital heart disease represents a group of heart anomalies that include septal defects, valve defects, and outflow tract anomalies. The exact genetic, epigenetic, or environmental basis of congenital heart disease remains poorly understood, although the exact mechanism is likely multifactorial. However, the development of new technologies including copy number variants, single-nucleotide polymorphism, next-generation sequencing are accelerating the detection of genetic causes of heart anomalies. Recent studies suggest a role of small non-coding RNAs, micro RNA, in congenital heart disease. The recently described epigenetic factors have also been found to contribute to cardiac morphogenesis. In this review, we present past and recent genetic discoveries in congenital heart disease.

  19. Adult Congenital Heart Disease: Scope of the Problem.

    Science.gov (United States)

    Mazor Dray, Efrat; Marelli, Ariane J

    2015-11-01

    This article reviews the changing epidemiology of congenital heart disease summarizing its impact on the demographics of the congenital heart disease population and the progress made in order to improve outcomes in this patient population. Birth prevalence of congenital heart disease can be modified by many factors. As a result of decreasing mortality and increasing survival in all forms of congenital heart disease, the median age of patients has increased and adults now compose two-thirds of patients with congenital heart disease. Disease burden and resulting health services utilization increase significantly across the lifespan. Bridging the gap between policy and quality of care can be improved by referral to specialized adult congenital heart disease centers and planning delivery of specialized services that are commensurate with population needs, program accreditation criteria and certified training of designated workforce.

  20. Familial aggregation of congenital hydrocephalus in a nationwide cohort

    DEFF Research Database (Denmark)

    Munch, Tina Nørgaard; Rostgaard, Klaus; Rasmussen, Marie-Louise Hee

    2012-01-01

    The objective of the study was to investigate familial aggregation of primary congenital hydrocephalus in an unselected, nationwide population. Based on the Danish Central Person Register, we identified all children born in Denmark between 1978 and 2008 and their family members (up to third......-degree relatives). Information on primary congenital hydrocephalus was obtained from the National Patient Discharge Register. Using binomial log-linear regression, we estimated recurrence risk ratios of congenital hydrocephalus. An alternative log-linear regression model was applied to quantify the genetic effect...... and the maternal effect. Of 1 928 683 live-born children, 2194 had a diagnosis of idiopathic congenital hydrocephalus (1.1/1000). Of those, 75 (3.4%) had at least one other family member with primary congenital hydrocephalus. Significantly increased recurrence risk ratios of primary congenital hydrocephalus were...

  1. Semantic information can facilitate covert face recognition in congenital prosopagnosia.

    Science.gov (United States)

    Rivolta, Davide; Schmalzl, Laura; Coltheart, Max; Palermo, Romina

    2010-11-01

    People with congenital prosopagnosia have never developed the ability to accurately recognize faces. This single case investigation systematically investigates covert and overt face recognition in "C.," a 69 year-old woman with congenital prosopagnosia. Specifically, we: (a) describe the first assessment of covert face recognition in congenital prosopagnosia using multiple tasks; (b) show that semantic information can contribute to covert recognition; and (c) provide a theoretical explanation for the mechanisms underlying covert face recognition.

  2. Congenital epulis: prenatal imaging with MRI and ultrasound

    Energy Technology Data Exchange (ETDEWEB)

    Roy, Sylvain; Patenaude, Yves G. [Department of Diagnostic Radiology, CHUS-Hopital Fleurimont, 3001 12 Ave Nord, J1H 5N4, Fleurimont, Quebec (Canada); Sinsky, Anna [Department of Diagnostic Radiology, UNC School of Medicine, 3322 Old Infirmary Building, NC 27599-7510, Chapel Hill (United States); Williams, Bruce [Department of Surgery, Montreal Children' s Hospital, Room C1139, 2300 Tupper Street, H3H 1P3, Montreal, Quebec (Canada); Desilets, Valerie [Department of Obstetrics and Gynecology, Royal Victoria Hospital, 687 Pine Avenue West, H3A 1A1, Montreal, Quebec (Canada)

    2003-11-01

    Congenital epulis is an uncommon benign tumor that originates from the alveolar ridge in newborns. It is also known as congenital gingival granular cell tumor. Although there have been around 200 reports of its postnatal diagnosis, this oral tumor has rarely been diagnosed prenatally. We present fetal MRI and Doppler prenatal imaging of an infant with two congenital epulides (simultaneous involvement of superior and inferior maxillas). (orig.)

  3. Cerebral glucose metabolic abnormality in patients with congenital scoliosis

    OpenAIRE

    Park, Weon Wook; Suh, Kuen Tak; Kim, Jeung Il; Ku, Ja Gyung; Lee, Hong Seok; Kim, Seong-Jang; Kim, In-Ju; Kim, Yong-Ki; Lee, Jung Sub

    2008-01-01

    A possible association between congenital scoliosis and low mental status has been recognized, but there are no reports describing the mental status or cerebral metabolism in patients with congenital scoliosis in detail. We investigated the mental status using a mini-mental status exam as well as the cerebral glucose metabolism using F-18 fluorodeoxyglucose brain positron emission tomography in 12 patients with congenital scoliosis and compared them with those of 14 age-matched patients with ...

  4. Congenital labial mucocele: rare presentation of a common disease.

    Science.gov (United States)

    Silva, Igor Henrique; Cardoso, Samantha; Carvalho, Camila Nunes; Carvalho, Alessandra Albuquerque Tavares; Leão, Jair Carneiro; Gueiros, Luiz Alcino

    2016-01-01

    Oral mucoceles are common lesions characterized by accumulation of mucus following rupture of a minor salivary gland duct. However, congenital mucoceles are a rare and distinctive oral condition observed in newborns. This case report details the features of a congenital labial nodule diagnosed as congenital mucocele. These lesions are rare in the oral cavity and should be diagnosed in the delivery room, but many cases are referred for further evaluation. Management is simple, and recurrence is not expected.

  5. Congenital Absence of the Right Pericardium: Embryology and Imaging

    OpenAIRE

    2015-01-01

    Though congenital pericardial absence is often asymptomatic, complications can be life threatening. To date, few short case reports, primarily from the pre-CT and MR era, describe congenital absence of the right pericardium. We present a more comprehensive discussion of the embryologic derangements causing such defects and offer an up-to-date review of characteristic radiologic findings. Recognition of characteristic imaging findings of congenital pericardial absence is crucial in guiding dia...

  6. A RARE CASE OF CONGENITAL ABNORMALITIES OF THE MAXILLOFACIAL REGION

    Directory of Open Access Journals (Sweden)

    Юлия Владимировна Степанова

    2014-09-01

    Full Text Available This article describes a rare case of congenital abnormality: a median facial cleft in combination with congenital complete bilateral cleft lip and palate. An integrated approach to the treatment of children with severe pathology of the maxillofacial area provides a good aesthetic and functional result. Surgical treatment in combination with orthodontic treatment, massage, myogymnastics, dynamic observation of the child contributes to the normal development of the maxillofacial area in a child with a rare congenital facial cleft.

  7. Radiological evaluation congenital gastrointestinal tract anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Cho, Young Hee; Kim, Ock [Hanil Hospital, Seoul (Korea, Republic of); Jang, Jung Wha [Seoul Nationl Hospital, Seoul (Korea, Republic of)

    1983-06-15

    With the improvements, during recent years, in the control of the infections and nutritional diseases the subject of congenital malformation becomes of increasing importance. The radiologic signs are crucial for prompt diagnosis of anomalies of alimentary tract and with early identification of resulting complication, surgical therapy is usually life-saving. 30 cases of congenital anomalies of alimentary tract in infants were reviewed in respect of age, sex, incidence and radiological findings. The results are summarized as follows; 1, The most common lesion was hypertrophic pyloric stenosis, followed by congenital megacolon and anorectal anomaly, tracheoesophageal fistula, intestinal atresia. 2. Male outnumbered female in most congenital anomalies of alimentary tract. 25 cases were under the age of 1 month. 3. Common symptoms of upper gastrointestinal tract obstruction are vomiting and abdominal distension. In the obstruction of lower gastrointestinal tract, abdominal distension and failure of meconium passage were noted. 4. Roentgenologic findings were as follows, a. Chest A-P and lateral view: In tracheoesophageal fistula, saccular dilatation of upper esophagus and displacement of trachea anterolaterally were the most common finding. b. Simple abdomen: Obstructive pattern of proximal portion of duodenum shows in 11 cases, of distal bowel shows in 16 cases. Duodenal atresia showed 'double bubble' sign, hypertrophic pyloric stenosis showed marked gastric distension, paucity of air in small bowel and increases gastric peristalsis were the most common findings. Hirschsprung's disease showed absenced of rectal gas almostly. The variable length between blind hindgut to anus was seen in anorectal anomalies. c. Esophagogram: Blind sac of upper esophagus was seen at the 4th thoracic spinal level and displacement of trachea anterolaterally. 1 case of tracheoesophageal fistula had an intact esophageal lumen. d. Upper G-I series: In hypertrophic pyloric

  8. Congenital Malformations in River Buffalo (Bubalus bubalis)

    Science.gov (United States)

    Albarella, Sara; Ciotola, Francesca; D’Anza, Emanuele; Coletta, Angelo; Zicarelli, Luigi; Peretti, Vincenzo

    2017-01-01

    Simple Summary Congenital malformations (due to genetic causes) represent a hidden danger for animal production, above all when genetic selection is undertaken for production improvements. These malformations are responsible for economic losses either because they reduce the productivity of the farm, or because their spread in the population would decrease the total productivity of that species/breed. River buffalo is a species of increasing interest all over the world for its production abilities, as proved by the buffalo genome project and the genetic selection plans that are currently performed in different countries. The aim of this review is to provide a general view of different models of congenital malformations in buffalo and their world distribution. This would be useful either for those who performed buffalo genetic selection or for researchers in genetic diseases, which would be an advantage to their studies with respect to the knowledge of gene mutations and interactions in this species. Abstract The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival. This review depicts, in the river buffalo (Bubalus bubalis) world population, the present status of the congenital malformations, due to genetic causes, to identify their frequency and distribution in order to develop genetic breeding plans able to improve the productive and reproductive performance, and avoid the spreading of detrimental gene variants. Congenital

  9. A Child with Lung Hypoplasia, Congenital Heart Disease, Hemifacial Microsomia, and Inguinal Hernia: Ipsilateral Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Chengming Fan

    2015-01-01

    Full Text Available A 3-year-old Chinese boy was diagnosed with ipsilateral congenital malformations: right lung hypoplasia, dextroversion of heart, atrial septal defect, hepatic vein drainage directly into the right atrium, facial asymmetry, right microtia and congenital deafness, and indirect inguinal hernia. He underwent indirect inguinal hernia repair at the age of 2. Although without any facial plastic surgery performed, he underwent a repair of atrial septal defect and recovered uneventfully. At 6-month follow-up, the patient was free from any symptom of dyspnea; his heart function returned to the first grade.

  10. A Child with Lung Hypoplasia, Congenital Heart Disease, Hemifacial Microsomia, and Inguinal Hernia: Ipsilateral Congenital Malformations

    Science.gov (United States)

    Fan, Chengming; Huang, Can; Liu, Jijia; Yang, Jinfu

    2015-01-01

    A 3-year-old Chinese boy was diagnosed with ipsilateral congenital malformations: right lung hypoplasia, dextroversion of heart, atrial septal defect, hepatic vein drainage directly into the right atrium, facial asymmetry, right microtia and congenital deafness, and indirect inguinal hernia. He underwent indirect inguinal hernia repair at the age of 2. Although without any facial plastic surgery performed, he underwent a repair of atrial septal defect and recovered uneventfully. At 6-month follow-up, the patient was free from any symptom of dyspnea; his heart function returned to the first grade. PMID:26294998

  11. Congenital costo-vertebral fibrous band and congenital kyphoscoliosis: a previously unreported combination.

    Science.gov (United States)

    Eid, Tony; Ghostine, Bachir; Kreichaty, Gaby; Daher, Paul; Ghanem, Ismat

    2013-05-01

    Congenital kyphoscoliosis (CKS) results from abnormal vertebral chondrification. Congenital fibrous bands occur in several locations with variable impact on vertebral development. We report a previously unreported case of a female infant with CKS presenting with an L2 hypoplastic vertebra and a costo-vertebral fibrous band extending to the skin in the form of a dimple. We also describe the therapeutic approach, consisting of surgical excision of the fibrous band and postoperative fulltime bracing, with a 7-year follow-up. We recommend a high index of suspicion in any unusual presentation of CKS and insist on case by case management in such cases.

  12. Assessment of splanchnic hemodynamics in patients with cirrhosis after splenectomy in comparison with non-operated patients at the decompensated stage

    Directory of Open Access Journals (Sweden)

    Алий Саитович Тугушев

    2015-10-01

    Full Text Available Splenectomy in patients with cirrhosis presupposes an increase of blood inflow into portal system to decrease the portal pressure. At the same time there are different opinions about splenectomy. So it is actual to study the character of changes of blood flow in vessels of abdominal cavity in pre- and postsurgical periods and assessment of an influence of these changes on the clinical course of cirrhosis.Aim of research: To assess an influence of splenectomy on the character of changes of splanchnic hemodynamics in patients with cirrhosis comparing to non-operated patients with compensated and decompensated clinical course.Materials and methods: There were examined 190 patients with cirrhosis: gastrointestinal bleeding from oesophagus varicose veins took place in 133 patients, diuretic resistant ascites – in 57 ones. 19 patients underwent splenectomy: 7 – in association with sewing of the left gastric vein and artery, 6 – with “skeletonization” of the lesser curvature of stomach with Nessen’s operation, 2 – with Patsiora’s operation, 2 – with application of selective porto-caval shunt between the low mesenteric vein and the left vein of an ovary. 84 patients died during observation. The duration of observation was from 0.5 to 3.5 years. All patients underwent fibrogastroscopy every 3–4 month. Hemodynamics was assessed on the base of repeated ultrasound of abdominal cavity. There were assessed diameter of hepatic and splenic vessels; qualitative and quantitative characteristics of blood flow in hepatic and splenic arteries, portal and splenic veins.Results of research: Changes of hemodynamics in patients after splenectomy as opposed to non-operative patients are characterized with the decrease of diameter of portal vein at almost stable speed of the linear blood flow in it. The result is some decrease of the volume of portal blood and index of portal blood congestion that indirectly indicates the decrease of portal pressure

  13. Differential Protein Expression in Congenital and Acquired Cholesteatomas.

    Directory of Open Access Journals (Sweden)

    Seung-Ho Shin

    Full Text Available Congenital cholesteatomas are epithelial lesions that present as an epithelial pearl behind an intact eardrum. Congenital and acquired cholesteatomas progress quite differently from each other and progress patterns can provide clues about the unique origin and pathogenesis of the abnormality. However, the exact pathogenic mechanisms by which cholesteatomas develop remain unknown. In this study, key proteins that directly affect cholesteatoma pathogenesis are investigated with proteomics and immunohistochemistry. Congenital cholesteatoma matrices and retroauricular skin were harvested during surgery in 4 patients diagnosed with a congenital cholesteatoma. Tissue was also harvested from the retraction pocket in an additional 2 patients during middle ear surgery. We performed 2-dimensional (2D electrophoresis to detect and analyze spots that are expressed only in congenital cholesteatoma and matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF/MS to separate proteins by molecular weight. Protein expression was confirmed by immunohistochemical staining. The image analysis of 2D electrophoresis showed that 4 congenital cholesteatoma samples had very similar protein expression patterns and that 127 spots were exclusively expressed in congenital cholesteatomas. Of these 127 spots, 10 major spots revealed the presence of titin, forkhead transcription activator homolog (FKH 5-3, plectin 1, keratin 10, and leucine zipper protein 5 by MALDI-TOF/MS analysis. Immunohistochemical staining showed that FKH 5-3 and titin were expressed in congenital cholesteatoma matrices, but not in acquired cholesteatomas. Our study shows that protein expression patterns are completely different in congenital cholesteatomas, acquired cholesteatomas, and skin. Moreover, non-epithelial proteins, including FKH 5-3 and titin, were unexpectedly expressed in congenital cholesteatoma tissue. Our data indicates that congenital cholesteatoma origins

  14. Axial Globe Length in Congenital Ptosis.

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    Takahashi, Yasuhiro; Kang, Hyera; Kakizaki, Hirohiko

    2015-01-01

    To compare axial globe length between affected and unaffected sides in patients with unilateral congenital ptosis. This prospective observational study included 37 patients (age range: 7 months to 58 years). The axial globe length, margin reflex distance-1 (MRD-1), and refractive power were measured. The axial globe length difference was calculated by subtracting the axial globe length on the unaffected side from that of the affected side. The relationships among axial globe length differences, MRD-1 on the affected sides, and patient ages were analyzed using multiple regression analysis. No significant differences were found in the axial globe length between sides (P = .677). The axial globe length difference was 0.17 ± 0.30 mm (mean ± standard deviation), and two patients (5.4%), aged 32 to 57 years, showed axial globe length more than 0.67 mm longer (corresponding to a refractive power of 2 diopters) on the affected side compared to the unaffected side. The multiple regression model between axial globe length difference, patient age, and MRD-1 on the affected sides was less appropriate (YAGL = 0.003XAGE-0.048XMRD-1 +0.112; r = 0.338; adjusted r2 = 0.062; P = .127). The cylindrical power was greater on the affected side (P = .046), although the spherical power was not different between sides (P = .657). No significant difference was identified in the axial globe length between sides, and only 5% of non-pediatric patients showed an axial globe length more than 0.67 mm longer on the affected side. Congenital ptosis may have little effect on axial globe length elongation, and the risk of axial myopia-induced anisometropic amblyopia may be low in patients with unilateral congenital ptosis. Copyright 2015, SLACK Incorporated.

  15. Clinical presentation and management of congenital ptosis

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    Marenco M

    2017-02-01

    Full Text Available Marco Marenco,1,* Ilaria Macchi,2,* Iacopo Macchi,3 Emilio Galassi,4 Mina Massaro-Giordano,5 Alessandro Lambiase1 1Department of Sense Organs, University of Rome “Sapienza”, 2Department of Ophthalmology, Campus Bio-Medico University of Rome, Rome, 3Department of Ophthalmology, University of Catania, Catania, 4Ophthalmic Clinic, Department of Ophthalmology, University of L’Aquila, L’Aquila, Italy; 5Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA *These authors contributed equally to this work Abstract: Congenital ptosis is a rare condition characterized by lower positioning of the upper eyelid that is present at birth and is a clinical condition that is persistent if not treated. It may be unilateral or bilateral and may be associated with other ocular disorders or systemic conditions, including Marcus Gunn, Horner, and Duane syndromes. It is a benign condition but causes functional, cosmetic, and psychological problems in children. However, not all patients need to undergo surgery, and usually only patients at risk of amblyopia need a prompt surgical correction, while in other cases, surgery can be postponed. The grade of ptosis, the eyelid function, and the amblyopic risk are the parameters that affect the ophthalmologist’s decision on timing of surgery and the surgical technique to be used. In fact, there are several types of surgical techniques to correct a congenital ptosis, although very often more than one is needed to obtain an acceptable result. This paper reviews the causes of congenital ptosis and associated diseases. Particular emphasis is given to surgical management and different procedures available to correct the upper eyelid anomaly and avoid permanent damage to visual function. Keywords: ptosis, extraocular muscle development, neurologic dysfunction, surgical approach

  16. [Congenital preauricular fistula infection: a histopathology observation].

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    Hua, Na; Wei, Lai; Jiang, Tao; Guo, Ying; Wang, Meiyi; Wang, Zhiqiang

    2014-08-01

    To investigate the pathology characteristics of congenital preauricular fistula with infection, in order to reduce the recurrence rate after surgery and improve operative technique. Twenty-five patients diagnosed as congenital preauricular fistula with infection were analyzed. There were 14 patients in infection history group, 9 in infective stage group, and 2 in recurrence group respectively. The whole piece of fistula and scar tissue was completely excised during operation. The specimens were observed by naked eye and serial tissue sections were analyzed. (1) Macroscopically, in infection history group, initial morphology can be maintained near the fistula orifice, but the distal tissue was dark red scar tissue. In infective stage group, the distal tissue of the specimens was granulation tissue and cicatricial tissue. The granulation tissue was crisp and bright red. In recurrence group, multicystic lesions with severe edema was observed, with a classical dumb-bell appearence. (2) Microscopically, in infection history group and recurrence group, we can see that the distal fistula tissue was discontinuous and was separated by scar tissue. In infective stage group, we can find neo-angiogenesis and infiltration of plasma cells, lymphocytes, neutrophil between interrupted fistula tissues. (3) All patients were followed up for 6-12 month, without recurrence. The fistula tissue of congenital preauricular fistula with infection was divided by the scar tissue, and they did not communicate with each other. Complete delineation of fistula is hardly achieved by methylene blue staining. Radical excision of the fistula and scar tissue may help to avoid leaving viable squamous epithelial remnants and reduce the recurrence rate.

  17. Sigmoid plate dehiscence: Congenital or acquired condition?

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    Liu, Zhaohui, E-mail: lzhtrhos@163.com [Capital Medical University, Beijing Tongren Hospital, No 1 Dong Jiao Min Street, Dongcheng District, Beijing 100730 (China); Li, Jing, E-mail: lijingxbh@yahoo.com.cn [Capital Medical University, Beijing Tongren Hospital, No 1 Dong Jiao Min Street, Dongcheng District, Beijing 100730 (China); Zhao, Pengfei, E-mail: zhaopengf05@163.com [Capital Medical University, Beijing Friendship Hospital, No 95 Yongan Road, Xicheng District, Beijing 100050 (China); Lv, Han, E-mail: chrislvhan@126.com [Capital Medical University, Beijing Friendship Hospital, No 95 Yongan Road, Xicheng District, Beijing 100050 (China); Dong, Cheng, E-mail: derc007@sina.com [Capital Medical University, Beijing Friendship Hospital, No 95 Yongan Road, Xicheng District, Beijing 100050 (China); Liu, Wenjuan, E-mail: wenjuanliu@163.com [Jining No. 1 People' s Hospital, No. 6 Health Street, Jining 272100 (China); Wang, Zhenchang, E-mail: cjr.wzhch@vip.163.com [Capital Medical University, Beijing Friendship Hospital, No 95 Yongan Road, Xicheng District, Beijing 100050 (China)

    2015-05-15

    Highlights: • CT with multiplanar reformations can accurately display the sigmoid platet dehiscence. • The prevalence of sigmoid plate dehiscence was no significant difference among different age groups. • The size of sigmoid plate bony defects were not statistically different among different age groups. • The sigmoid plate dehiscence is more commonly a congenital than an acquired condition. - Abstract: Background and purpose: The imaging features of sigmoid plate dehiscence-induced pulsatile tinnitus have been presented. The origin of the sigmoid plate dehiscence, however, remains unclear. Our aim was to assess the prevalence and extent of sigmoid plate dehiscence on computed tomography (CT) images in multiple age groups to determine whether this condition is more likely to be congenital or acquired. Materials and methods: We retrospectively reviewed contrast-enhanced CT images of sigmoid plates of temporal bones in 504 patients. Each temporal bone was characterized as normal or dehiscent. Patients were then subcategorized into four age groups, and the prevalence and extent of dehiscent sigmoid plates in each group were calculated and compared. Results: Overall, 80 patients had sigmoid plate dehiscence, nine of whom had it bilaterally. In successively older age groups, the prevalences of sigmoid plate dehiscence were 18.9%, 20.1%, 14.5%, and 12.7%, respectively. Respective average anteroposterior bony defect diameters were 3.7 ± 1.7, 3.0 ± 1.3, 3.1 ± 1.5, and 3.0 ± 1.1 mm. Respective average vertical bony defect diameters were 3.6 ± 2.3, 2.6 ± 1.2, 3.2 ± 1.5, and 3.0 ± 1.7 mm. The prevalence and extent of sigmoid plate dehiscence were not statistically different among the four age groups. Conclusions: The similar radiologic prevalence and extent of dehiscent sigmoid plates among the age groups suggest that the dehiscence is more commonly a congenital than an acquired condition.

  18. Early extubation after congenital heart surgery

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    Mirza Halimić

    2014-12-01

    Full Text Available Introduction: Despite recent advances in anesthesia, cardiopulmonary bypass and surgical techniques, children undergoing congenital heart surgery require postoperativemechanical ventilation. Early extubation was definedas ventilation shorter than 12 hours. Aim of this study is to identify factors associated with successful early extubation after pediatric cardiac surgery.Methods: The study was performed during period from January 2006 to January 2011 at Pediatric Clinic and Heart Center University Clinical center Sarajevo. One hundred children up to 5 years of age, who have had congenital heart disease, with left–right shunt and obstructive heart disease were included in the study. Patients were divided into two groups: Group I - patients extubated within 12 hours after surgery and Group II - patients extubated 12 or more hours after surgery. Results: The most frequently encountered preoperative variables were age with odds ratio 4% 95%CI (1-7%, Down's syndrome 8.5 95%CI (1.6-43.15, failure to thrive 4.3 95%CI( 1-18. Statistically significant postoperative data included lung disease (reactive airways, pneumonia, atelectasis, pneumothorax and with odds ratio 35.1 95 %CI (4-286 and blood transfusion with odds ratio 4.6 95%CI (2-12. Blood transfusion (p=0.002 (Wald=9.2 95%CI (2-12, during as well as after operation procedure has statistically significant influence on prediction time of extubation. Proven markers were age with cut of 21.5 months (sensitivity 74% and specificity 70% and extracorporeal circulation (ECC with cut-of 45.5 minutes (sensitivity 71% and specificity 65%.Conclusion: Early extubation is possible in many children undergoing congenital heart surgery. Younger age and prolonged ECC time are markers associated with prolonged mechanical ventilation.

  19. Prognostic markers of symptomatic congenital cytomegalovirus infection.

    Science.gov (United States)

    Romanelli, Roberta Maia de Castro; Magny, Jean François; Jacquemard, François

    2008-02-01

    The objective of this research was to identify maternal and fetal characteristics as prognostic markers of congenital cytomegalovirus (CMV) infection. This is a descriptive study of 13 cases of congenital CMV infection referred to Institute de Puericulture et Perinatologie de Paris (IPP) from January 2005 to October 2006. Amniotic fluid puncture was performed to research CMV polimerase chain reaction (PCR). Cordocentesis and cord blood samples at delivery were also analyzed to determinate fetal platelets count, GGT, ASAT, ALAT, CMV-DNA and IgM antibody. Variables of symptomatic and asymptomatic infants were then compared. Data were analyzed by SPSS--15.0. Mean gestational age of amniocentesis was 24.6 weeks and there was no difference of mean viral load in amniotic fluid considering infant features. Mean gestational age of cordocentesis was 26.1 weeks. There were no statistical differences of fetal viral load, IgM, platelets, GGT, ASAT and ALAT analyzed at cordocentesis samples, but at delivery, mean values of IgM and ASAT of fetal blood were increased in symptomatic ones (p= 0.03 for both parameters). When considering groups with normal and abnormal parameters, ASAT of cordon samples was also increased in symptomatic infants (p= 0.02). Sensibility, specificity, positive and negative predictive value of fetal ultrasound anomalies to detect symptomatic infants were, respectively, 80%, 62.5%, 57.1% and 83.3%. Thus, identification of markers of CMV symptomatic infants should be aimed. Prenatal diagnosis, identification and follow up of congenital CMV infected infants are important to consider treatment for symptomatic infants, trying to avoid or reducing some possible sequels.

  20. Prognostic markers of symptomatic congenital cytomegalovirus infection

    Directory of Open Access Journals (Sweden)

    Roberta Maia de Castro Romanelli

    2008-02-01

    Full Text Available The objective of this research was to identify maternal and fetal characteristics as prognostic markers of congenital cytomegalovirus (CMV infection. This is a descriptive study of 13 cases of congenital CMV infection referred to Institute de Puericulture et Perinatologie de Paris (IPP from January 2005 to October 2006. Amniotic fluid puncture was performed to research CMV polimerase chain reaction (PCR. Cordocentesis and cord blood samples at delivery were also analyzed to determinate fetal platelets count, GGT, ASAT, ALAT, CMV-DNA and IgM antibody. Variables of symptomatic and asymptomatic infants were then compared. Data were analyzed by SPSS - 15.0. Mean gestational age of amniocentesis was 24.6 weeks and there was no difference of mean viral load in amniotic fluid considering infant features. Mean gestational age of cordocentesis was 26.1 weeks. There were no statistical differences of fetal viral load, IgM, platelets, GGT, ASAT and ALAT analyzed at cordocentesis samples, but at delivery, mean values of IgM and ASAT of fetal blood were increased in symptomatic ones (p= 0.03 for both parameters. When considering groups with normal and abnormal parameters, ASAT of cordon samples was also increased in symptomatic infants (p= 0.02. Sensibility, specificity, positive and negative predictive value of fetal ultrasound anomalies to detect symptomatic infants were, respectively, 80%, 62.5%, 57.1% and 83.3%. Thus, identification of markers of CMV symptomatic infants should be aimed. Prenatal diagnosis, identification and follow up of congenital CMV infected infants are important to consider treatment for symptomatic infants, trying to avoid or reducing some possible sequels.