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Sample records for diagnosed congenital cystic

  1. Congenital cystic eyeball

    Directory of Open Access Journals (Sweden)

    Gupta V

    1990-01-01

    Full Text Available A rare case of histopathologically proved case of congenital cystic eye in a one day old girl is described. It was an unusually large cystic mass bulging forwards stretching the upperlid. There was no rudimentary eyeball in the orbit. The cystic eye′s predilection for the left eye has been pointed out for the first time in this article.

  2. Congenital cystic lung malformations

    International Nuclear Information System (INIS)

    Stoever, B.; Scheer, I.; Bassir, C.; Chaoui, R.; Henrich, W.; Schwabe, M.; Wauer, R.

    2006-01-01

    Purpose: The aim of the study concerning congenital cystic lung malformations was to evaluate prenatal diagnoses postnatally to determine prognostic factors as well as to define optimized perinatal management. Materials and Methods: The study is based on 45 prenatal ultrasound examinations depicting fetal cystic lung lesions. 32 of the mothers had follow-up examinations. 5 pregnancies were terminated due to CCAM and additional malformations. Complete regression of the lesions was seen prenatally in 8 cases and postnatally in 5 children. Results: Surgical intervention due to respiratory insufficiency was necessary in 4 neonates. According to the imaging results, CCAM was present in 4 cases and sequestration in 7 patients. No correlation between the imaging findings and the surgical results was found in 3 children: One child suffered from rhadomyoid dysplasia, and in the case of the second child, a left-sided hernia of the diaphragm and additional sequestration were detected. The third child showed AV malformation. The cystic lesions of the 14 children operated upon were proven histologically. The degree of accuracy in the present study was high. Conclusion: Precise perinatal management is warranted in order to determine according to the clinical relevance surgical intervention and to prevent complications after the first year of life. This is performed during the neonatal period for respiratory insufficient neonates and within the first year of life for clinically stable children. (orig.)

  3. Congenital cystic adenomatoid malformation

    International Nuclear Information System (INIS)

    Chaudhry, A.K.; Azam, M.; Maqsood, R.; Naz, B.; Salam, A.

    2003-01-01

    This case report presents the clinical picture, diagnostic methodology and surgical treatment of a female child who presented with chronic cough and dyspnoea due to congenital malformation of lung. A discussion of diagnosis and management is presented at the end. (author)

  4. Congenital cystic lung malformations; Konnatale zystische Lungenfehlbildungen

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    Stoever, B.; Scheer, I.; Bassir, C. [Klinik fuer Strahlenheilkunde, Berlin (Germany). Abt. Paediatrische Radiologie, Charite; Mau, H. [Campus Virchow-Klinikum, Klinik fuer Kinderchirurgie, Berlin (Germany); Chaoui, R. [Campus Mitte, Klinik fuer Geburtsmedizin, Berlin (Germany); Henrich, W. [Campus Virchow-Klinikum, Klinik fuer Geburtsmedizin, Berlin (Germany); Schwabe, M. [Campus Mitte, Inst. fuer Pathologie, Berlin (Germany); Wauer, R. [Campus Mitte, Klinik fuer Neonatologie, Berlin (Germany)

    2006-04-15

    Purpose: The aim of the study concerning congenital cystic lung malformations was to evaluate prenatal diagnoses postnatally to determine prognostic factors as well as to define optimized perinatal management. Materials and Methods: The study is based on 45 prenatal ultrasound examinations depicting fetal cystic lung lesions. 32 of the mothers had follow-up examinations. 5 pregnancies were terminated due to CCAM and additional malformations. Complete regression of the lesions was seen prenatally in 8 cases and postnatally in 5 children. Results: Surgical intervention due to respiratory insufficiency was necessary in 4 neonates. According to the imaging results, CCAM was present in 4 cases and sequestration in 7 patients. No correlation between the imaging findings and the surgical results was found in 3 children: One child suffered from rhadomyoid dysplasia, and in the case of the second child, a left-sided hernia of the diaphragm and additional sequestration were detected. The third child showed AV malformation. The cystic lesions of the 14 children operated upon were proven histologically. The degree of accuracy in the present study was high. Conclusion: Precise perinatal management is warranted in order to determine according to the clinical relevance surgical intervention and to prevent complications after the first year of life. This is performed during the neonatal period for respiratory insufficient neonates and within the first year of life for clinically stable children. (orig.)

  5. Congenital cystic adenomatoid lung malformation of newborn

    International Nuclear Information System (INIS)

    Reither, M.; Peltner, H.U.; Weigel, W.; Braune, M.; Heiming, E.

    1980-01-01

    The congenital cystic adenomatoid malformation (CCAM) of the newborn is a particular form among the cystic disorders of the lung. The clinical findings, illustrated by four cases, and especially the roentgenographic symptoms are typical. Different radiologic examinations, including the computertomography, are discussed. The differential diagnosis of the disease is various, and therefore a correct and on time diagnosis is necessary, because the prognosis of the patient depends on an adequate therapy. (orig.) [de

  6. Diagnosis of congenital cystic adenomatoid malformation of the lung in newborn infants and children

    NARCIS (Netherlands)

    Heij, H. A.; Ekkelkamp, S.; Vos, A.

    1990-01-01

    Seventeen patients were diagnosed as having congenital cystic adenomatoid malformation of the lung during 1970-88. One case was associated with congenital diaphragmatic hernia and the child died before operation. The other 16 children underwent successful surgery. The patients presented in one of

  7. Congenital Cystic Adenomatoid Malformation of Lung-Rare Case Report

    Directory of Open Access Journals (Sweden)

    N. S. Kamakeri

    2016-10-01

    Full Text Available Congenital cystic adenomatoid malformation of lung associated with Cystic dysplasia of kidney, cystic disease of liver with mixed gonadal dysgenesis is rare and is not reported in literature so far. Hence an attempt is made to present this rarest entity.

  8. Large congenital cystic asdenomatous malformation of the lung in a newborn

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    İlyas Yolbaş

    2013-12-01

    Full Text Available Congenital cystic adenomatous malformation (CCAM oflung is a rare form of congenital hamartomatous lesionsof the lung consisting of cysts filled with air. The generalclinic presentation of CCAM is dyspnea in newborns.CCAM may mimic congenital pneumonia or respiratorydistress syndrome. After the delivery, the newborn malewho had low Apgar score and severe respiratory distresswas intubated and admitted to neonatal intensive careunit. Patient was ventilated for 50 days and weaned fromthe mechanical ventilator at 50th day. Type II CCAM of thelung was diagnosed according to the chest radiographsand computed tomography scan signs. Although the surgeonssuggested lobectomy considering the patient’s notcompletely asymptomatic, family did not accept this operationdue to the risk of death. The patient was dischargedfrom the hospital until the next control.Key word: Congenital cystic adenomatous malformation of lunch, newborn, conservative treatment

  9. Radiological findings in congenital cystic disease of the lung in infancy

    International Nuclear Information System (INIS)

    Heymer, R.; Benz-Bohm, G.; Arnold, G.; Koeln Univ.

    1982-01-01

    Three infants with congenital cystic disease of the lung are described. They consisted of a solitary bronchial cyst, an adenomatous cystic malformation and congenital lobar emphysema. The radiological appearance and differential diagnosis of these three conditions are discussed. (orig.) [de

  10. Congenital cystic masses of the face and neck: CT evaluation

    International Nuclear Information System (INIS)

    Chung, Hae Gyeong; Kim, Hyung Jin; Kim, Jae Hyoung; Hwang, Eui Gee; Jeon, Sea Young; Kim, Sun Young; Chung, Sung Hoon

    1991-01-01

    Recognition of the congenital cystic masses of the face and neck is important because they are usually benign, and can be completely cured by surgical excision. We retrospective analyzed CT scan of 18 surgically proven congenital cystic masses of the face and neck. The cases included 5 thyroglossal duct cysts, 4 cystic hygromas, 5 dermoid cysts, 1 branchial cleft cyst, and 3 fissural cysts of the face. Of five cases of thyroglossal duct cysts, CT showed either a well-marginated, rim enhancing unilocular cystic mass (n=3), or a diffuse but heterogeneous highly enhancing soft tissue mass (n=2). The latter two cases were confirmed later as infected thyroglossal duct cysts. Four cases of cystic hygromas were seen as either an irregularly-marginated (n=3) or a well-marginated (n=1) rim enhancing multiseptated cystic mass with a fluid-fluid level. Five cases of dermoid cysts appeared as well-marginated rim enhancing unilocular ovoid masses. The content of each mass was predominantly fluid in four cases, of which additional solid components were found in two, and interspersed fat globules in one. One case was composed of a homogeneous fatty density. One case of branchial cleft cyst was in the anterior triangle near the left mandibular angle, and appeared as a well-marginated enhancing cystic mass with a thick rim. In this case displacement of the adjacent structures was noted also. All three cases of fissural cysts of the face were seen as a well-marginated, rim enhancing cystic mass, causing a smooth pressure erosion of the adjacent bones. We conclude that CT is useful for the evaluation of the congenital cystic masses of the face and neck, because it can differentiate various forms of the congenital lesions and is able to clearly reveal the relation of the mass to the adjacent structures

  11. Congenital cystic masses of the face and neck: CT evaluation

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    Chung, Hae Gyeong; Kim, Hyung Jin; Kim, Jae Hyoung; Hwang, Eui Gee; Jeon, Sea Young; Kim, Sun Young; Chung, Sung Hoon [Gyeongsang National University, Jinju (Korea, Republic of)

    1991-09-15

    Recognition of the congenital cystic masses of the face and neck is important because they are usually benign, and can be completely cured by surgical excision. We retrospective analyzed CT scan of 18 surgically proven congenital cystic masses of the face and neck. The cases included 5 thyroglossal duct cysts, 4 cystic hygromas, 5 dermoid cysts, 1 branchial cleft cyst, and 3 fissural cysts of the face. Of five cases of thyroglossal duct cysts, CT showed either a well-marginated, rim enhancing unilocular cystic mass (n=3), or a diffuse but heterogeneous highly enhancing soft tissue mass (n=2). The latter two cases were confirmed later as infected thyroglossal duct cysts. Four cases of cystic hygromas were seen as either an irregularly-marginated (n=3) or a well-marginated (n=1) rim enhancing multiseptated cystic mass with a fluid-fluid level. Five cases of dermoid cysts appeared as well-marginated rim enhancing unilocular ovoid masses. The content of each mass was predominantly fluid in four cases, of which additional solid components were found in two, and interspersed fat globules in one. One case was composed of a homogeneous fatty density. One case of branchial cleft cyst was in the anterior triangle near the left mandibular angle, and appeared as a well-marginated enhancing cystic mass with a thick rim. In this case displacement of the adjacent structures was noted also. All three cases of fissural cysts of the face were seen as a well-marginated, rim enhancing cystic mass, causing a smooth pressure erosion of the adjacent bones. We conclude that CT is useful for the evaluation of the congenital cystic masses of the face and neck, because it can differentiate various forms of the congenital lesions and is able to clearly reveal the relation of the mass to the adjacent structures.

  12. Prenatal diagnosis of congenital cystic adenomatoid malformation of the lung: A case report

    International Nuclear Information System (INIS)

    Shin, Hyun Ja; Shin, M. J.; Yoo, Y. J.; Park, J. M.; Kim, J. R.

    1990-01-01

    Congenital cystic adenomatoid malformation is one of a rare congenital malformation usually unilateal in volving a part of lobe or a whole lobe of the fetal lung, characterized by excessive growing of terminal respiratory element. We made a prenatal diagnosis in a case of congenital cystic adenomdtoid malformation with diffuse bilateral involvement, Stocker Type III which is associated with fetal hydrops

  13. Congenital cystic adenomatoid malformation of the lung

    International Nuclear Information System (INIS)

    Beluffi, G.; Brokensha, C.; Kozlowski, K.; Lucaya, J.; Morris, L.; Rosso, R.

    1989-01-01

    Sixteen cases of CCAM are presented, one with bilateral disease, diagnosed at different times, and one with an associated prune belly syndrome, to be added to the 405 already reported in the literature, and their clinical, radiological and pathological features are described. (orig./MG) [de

  14. Congenital cystic adenomatoid malformation: case presentation in a two months old infant

    International Nuclear Information System (INIS)

    Aqrabawi, H.E.; Shabatat, M.; Abbadi, B.M.

    2015-01-01

    Congenital cystic adenomatoid malformation (CCAM) is a rare abnormality of lung development; it is increasingly detected by the routine ultrasound scan during pregnancy. The severity of the abnormality is very variable. Herein, we present a case of congenital cystic adenomatoid malformation that presented in a two months old infant who had normal initial chest X rays. (author)

  15. Inadvertent chest tube insertion in congenital cystic adenomatoid malformation and congenital lobar emphysema-highlighting an important problem

    International Nuclear Information System (INIS)

    Prabhu, Shailesh M; Choudhury, Subhasis Roy; Solanki, Ravi S; Shetty, Gurucharan S; Agarwala, Surenderkumar

    2013-01-01

    Chest tube insertion in congenital cystic lung lesions is an important problem in children with acute respiratory distress having a cystic lucent lesion on chest radiograph. To evaluate the imaging findings and complications in cases of congenital cystic lung lesions with chest tube insertion and suggest the role of appropriate imaging for management of these patients. Chest radiographs and CT scans of children with congenital cystic lung lesions who had inadvertent chest tube insertion preoperatively were retrospectively reviewed for imaging appearances and complications. Fifteen patients comprising 10 cases of congenital cystic adenomatoid malformation (CCAM) and 5 cases of congenital lobar emphysema (CLE) were included. Majority of the cases were infants. CCAM was misdiagnosed as complicated pneumatocele (n = 5) and pneumothorax (n = 5), while CLE was misdiagnosed as tension pneumothorax (n = 5) on the chest radiograph findings. Final diagnosis was made on CT and operative findings with histopathology. Complications noted were pneumothorax, hydropneumothorax, and infection in cases of CCAM, and change in imaging appearance and pneumothorax in cases of CLE. Chest tube insertion in congenital cystic lesions increases the rate of associated complications. Chest CT has a definite role in early diagnosis and deciding appropriate management in these cases

  16. Pleural pneumatocoeles mimicking congenital cystic adenomatoid malformation of the lung. A case report

    International Nuclear Information System (INIS)

    Aurora, P.; McHugh, K.

    1998-01-01

    We present the plain radiographic and CT appearances of large intrapleural pneumatocoeles in a 13-week-old infant, resulting in compression atelectasis of the left upper and lower lobes, and mimicking congenital cystic adenomatoid malformation. (orig.)

  17. Association of two respiratory congenital anomalies: tracheal diverticulum and cystic adenomatoid malformation of the lung

    International Nuclear Information System (INIS)

    Restrepo, S.; Villamil, M.A.; Rojas, I.C.; Lemos, D.F.; Echeverri, S.; Angarita, M.; Triana, G.

    2004-01-01

    Many associations of congenital anomalies of the respiratory system have been reported, but the combination of tracheal diverticulum and cystic adenomatoid malformation (CCAM) is unique. We present a patient with these two anomalies and analyze their embryological correlation. (orig.)

  18. [Autosomal-recessive renal cystic disease and congenital hepatic fibrosis: clinico-anatomic case].

    Science.gov (United States)

    Rostol'tsev, K V; Burenkov, R A; Kuz'micheva, I A

    2012-01-01

    Clinico-anatomic observation of autosomal-recessive renal cystic disease and congenital hepatic fibrosis at two fetuses from the same family was done. Mutation of His3124Tyr in 58 exon of PKHD1 gene in heterozygous state was found out. The same pathomorphological changes in the epithelium of cystic renal tubules and bile ducts of the liver were noted. We suggest that the autopsy research of fetuses with congenital abnormalities, detected after prenatal ultrasonic screening, has high diagnostic importance.

  19. Rapidly Evoluting Congenital Cystic Neuroblastoma in a Neonate

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    Yun, Tae Jun; Kim, Myung Jun; Han, Seok Joo; Lee, Mi Jung [Severance Children' s Hospital, Yonsei University, College of Medicine, Seoul(Korea, Republic of)

    2012-08-15

    Perinatal detection of neonatal suprarenal masses has increased. Here, we report an unusual case of an adrenal cystic neuroblastoma that presented as a purely cystic lesion upon initial postnatal ultrasonography (US) and showed rapid evolution to a mixed cystic and solid mass during follow-up US and MRI. We suggest a short-term (two weeks) follow-up US for neonatal adrenal cystic lesions, even if they appear as purely cystic.

  20. Fetal lung interstitial tumor: the first Japanese case report and a comparison with fetal lung tissue and congenital cystic adenomatoid malformation/congenital pulmonary airway malformation type 3.

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    Yoshida, Mariko; Tanaka, Mio; Gomi, Kiyoshi; Iwanaka, Tadashi; Dehner, Louis P; Tanaka, Yukichi

    2013-10-01

    Fetal lung interstitial tumor, a newly recognized lung lesion in infants, was first reported in 2010. Here, we report the first Japanese case of fetal lung interstitial tumor which was originally diagnosed as atypical congenital cystic adenomatoid malformation/congenital pulmonary airway malformation type 3. A 7-day-old girl was referred to our hospital with respiratory distress and a left lung mass and she subsequently underwent left lower lobectomy. The specimen showed a 5 cm solid mass with a fibrous capsule. Histological examination revealed immature airspaces and interstitium, containing bronchioles and cartilage. The epithelial and interstitial cells contained abundant glycogen granules. Immunohistochemistry showed nuclear/cytoplasmic expression of β-catenin in the epithelial and interstitial cells. β-catenin gene mutations and trisomy 8 were not detected, so a neoplastic origin could not be confirmed. The histological findings were partly consistent with normal fetal lung at the canalicular stage, pulmonary interstitial glycogenosis, and congenital cystic adenomatoid malformation/congenital pulmonary airway malformation type 3. In this report, we compare the above conditions and discuss the pathogenesis of fetal lung interstitial tumor. © 2013 The Authors. Pathology International © 2013 Japanese Society of Pathology and Wiley Publishing Asia Pty Ltd.

  1. Comparison of Clinico-Radiological Features between Congenital Cystic Neuroblastoma and Neonatal Adrenal Hemorrhagic Pseudocyst

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    Eo, Hong; Kim, Ji Hye; Jang, Kyung Mi; Yoo, So Young [Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of); Lim, Gye Yeon [St. Mary' s Hospital Catholic University, Seoul (Korea, Republic of); Kim, Myung Joon [Severance Hospital Yonsei University, Seoul (Korea, Republic of); Kim, Ok Hwa [Ajou University Hospital, Suwon (Korea, Republic of)

    2011-02-15

    To evaluate the radiological and clinical findings of congenital cystic neuroblastomas as compared with those of the cystic presentation of neonatal adrenal hemorrhage. We analyzed the US (n = 52), CT (n = 24), and MR (n = 4) images as well as the medical records of 28 patients harboring congenital cystic neuroblastomas (n = 16) and neonatal adrenal hemorrhagic pseudocysts (n = 14). The history of prenatal detection, location, size, presence of outer wall enhancement, internal septations, solid portion, calcification, turbidity, vascular flow on a Doppler examination, and evolution patterns were compared in two groups of cystic lesions, by Fischer's exact test. All (100%) neuroblastomas and three (21%) of the 14 hemorrhagic pseudocysts were detected prenatally. Both groups of cystic lesions occurred more frequently on the right side; 11 of 16 (69%) for neuroblastomas and 11 of 14 (79%) for hemorrhagic pseudocysts. The size, presence of solid portion, septum, enhancement, and turbidity did not differ significantly (p > 0.05) between the two groups of cystic lesions. However, tiny calcifications (n = 3) and vascular flow on color Doppler US (n = 3) were noted in only neuroblastomas. The cystic neuroblastomas became complex solid and cystic masses, and did not disappear for up to 90 days in the three following cases, whereas 11 of the 14 (79%) hemorrhagic pseudocysts disappeared completely and the three remaining (27%) evolved to calcifications only. Although the imaging findings of two groups of cystic lesions were similar, prenatal detection, the presence of calcification on initial images, vascularity on color Doppler US, and evolution to a more complex mass may all favor neuroblastomas

  2. Comparison of Clinico-Radiological Features between Congenital Cystic Neuroblastoma and Neonatal Adrenal Hemorrhagic Pseudocyst

    International Nuclear Information System (INIS)

    Eo, Hong; Kim, Ji Hye; Jang, Kyung Mi; Yoo, So Young; Lim, Gye Yeon; Kim, Myung Joon; Kim, Ok Hwa

    2011-01-01

    To evaluate the radiological and clinical findings of congenital cystic neuroblastomas as compared with those of the cystic presentation of neonatal adrenal hemorrhage. We analyzed the US (n = 52), CT (n = 24), and MR (n = 4) images as well as the medical records of 28 patients harboring congenital cystic neuroblastomas (n = 16) and neonatal adrenal hemorrhagic pseudocysts (n = 14). The history of prenatal detection, location, size, presence of outer wall enhancement, internal septations, solid portion, calcification, turbidity, vascular flow on a Doppler examination, and evolution patterns were compared in two groups of cystic lesions, by Fischer's exact test. All (100%) neuroblastomas and three (21%) of the 14 hemorrhagic pseudocysts were detected prenatally. Both groups of cystic lesions occurred more frequently on the right side; 11 of 16 (69%) for neuroblastomas and 11 of 14 (79%) for hemorrhagic pseudocysts. The size, presence of solid portion, septum, enhancement, and turbidity did not differ significantly (p > 0.05) between the two groups of cystic lesions. However, tiny calcifications (n = 3) and vascular flow on color Doppler US (n = 3) were noted in only neuroblastomas. The cystic neuroblastomas became complex solid and cystic masses, and did not disappear for up to 90 days in the three following cases, whereas 11 of the 14 (79%) hemorrhagic pseudocysts disappeared completely and the three remaining (27%) evolved to calcifications only. Although the imaging findings of two groups of cystic lesions were similar, prenatal detection, the presence of calcification on initial images, vascularity on color Doppler US, and evolution to a more complex mass may all favor neuroblastomas

  3. Congenital cystic adenomatoid malformation of the lung: hazards of delayed diagnosis.

    LENUS (Irish Health Repository)

    Collins, Anne M

    2012-02-01

    Congenital cystic adenomatoid malformation is a rare pulmonary developmental anomaly, which typically manifests in neonates and infants. Presentation in adulthood is uncommon, with <60 cases reported in the literature. The majority of cases involve one lobe only. We report a case of type 1 congenital cystic adenomatoid malformation in an adult presenting with a respiratory tract infection and haemoptysis. At thoracotomy, complex cystic masses were noted in the right upper and lower lobes. Lung-sparing surgery, in the form of two segmentectomies and a non-anatomical resection, was performed in order to avoid pneumonectomy. Such presentations may be problematic as potentially incomplete resections may increase the risk of complications and malignant transformation. This suggests the importance of appropriate clinical and radiological follow up.

  4. A "blind" vascular ring in association with congenital cystic adenomatoid malformation: A case report.

    Science.gov (United States)

    Xia, Bo; Hong, Chun; Tang, Jing; Liu, Cuifen; Yu, Gang

    2017-12-01

    The occurrence of congenital cystic adenomatoid malformation (CCAM) and vascular ring (VR) is extremely rare. We present a case of left CCAM with VR consisting of a left aortic arch and right descending aorta with left tracheal compression causing atelectasis. A high-risk male neonate with the diagnosis of left CCAM was diagnosed at 20 weeks gestational age by antenatal ultrasound. Chest CT revealed multiple cysts in the left inferior lung. Cardiac CT showed VR consisting of a left aortic arch and right descending aorta with left tracheal compression causing atelectasis. left inferior lobectomy was performed. Cardiac CT showed VR consisting of a left aortic arch and right descending aorta with left tracheal compression causing atelectasis. Descending aorta transposition was performed. The patient recovered smoothly and remained asymptomatic during the 12-months of postoperative follow-up period. We report this rare case of CCAM with VR consisting of left aortic arch and right descending aorta with left tracheal compression causing atelectasis. From the findings of this report, early surgical treatment is recommended. Although the prognosis after surgery remained good, second surgery can be avoided if VR was detected early. Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

  5. [Rare case of congenital cystic adenomatoid malformation associated with polycystic kidney disease].

    Science.gov (United States)

    Jabłoński, Janusz; Jankowski, Zbigniew; Sitkiewicz, Anna; Lewandowska, Małgorzata; Andrzejewska, Ewa

    2011-01-01

    Congenital cystic adenomatoid malformation (CCAM) is a rare pulmonary abnormality that results from aberrant fetal lung development. It about 4-26% of cases it can be associated with other congenital abnormalities. We describe a case of congenital cystic adenomatoid malformation 2 associated with polycystic kidney disease. The association of these two congenital malformations is exceptional. Only four similar cases have been reported in the literature. A 2-year-old girl was referred to the Department of Paediatric Surgery and Oncology Medical University of Lodz with pneumonia and left pneumothorax. For three weeks prior to referral the patient was treated with antibiotics. Chest x-ray revealed hyperinflation of left upper lobe with mediastinal shift to right. Computer tomographic scan of the lung revealed multiple cyst in the left upper lobe, left-site pneumothorax and mediastinal shift to the right. The patient underwent thoracotomy. Intraoperatively, multiple cysts in the left upper lobe were found and left upper lobectomy was performed. Histologic study was compatible with type 2 congenital cystic adenomatoid malformation. Ultrasound examination showed multilocular cysts in both kidneys. The dimensions of the cysts were: MWR4. 54x45x45 mm and 25x21x24 mm on the left and right sides, respectively. Significant increase in cyst size on the left side was observed. Ten months after first hospitalization resection of the cystic lower pole of the left kidney was performed. The presence of even a single renal cyst in a child with CCAM is an indication for further follow up examinations.

  6. Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia.

    Science.gov (United States)

    Hendrix, Nancy W; Clemens, Michele; Canavan, Timothy P; Surti, Urvashi; Rajkovic, Aleksandar

    2012-01-01

    We describe the first reported case of a prenatally diagnosed and recently described 17q12 microdeletion syndrome. The fetus was noted to have a congenital diaphragmatic hernia (CDH), echogenic kidneys and cystic left lung on prenatal ultrasound. The patient underwent amniocentesis which resulted in a normal fluorescence in-situ hybridization and karyotype. An oligonucleotide microarray was then performed which demonstrated a 1.4-Mb deletion within the 17q12 region. The deletion caused haploinsufficiency for 17 genes, including AATF, ACACA, DDX52, DUSP14, GGNBP2, HNF-1B, LHX1, PIGW, SYNRG, TADA2A, and ZNHIT3. The deleted region on 17q12 is similar in size and gene content to previously reported 17q12 microdeletion syndromes, which have a minimal critical region of 1.52 Mb. The newly described 17q12 microdeletion syndrome has been associated with MODY5 (maturity-onset of diabetes of the young type 5), cystic renal disease, pancreatic atrophy, liver abnormalities, cognitive impairment and structural brain abnormalities. CDH has not been previously described with the 17q12 microdeletion syndrome. We hypothesize that CDH is part of the spectrum of this syndrome and likely not detected postnatally due to high prenatal mortality. Copyright © 2011 S. Karger AG, Basel.

  7. Mediastinal Cystic Lymphangioma in a Patient with Situs Inversus Totalis

    Directory of Open Access Journals (Sweden)

    Teruya Komatsu

    2014-01-01

    Full Text Available We present a case of cystic lymphangioma of the mediastinum complicated with situs inversus totalis. The 70-year-old man underwent thoracoscopic resection of a mediastinal cystic tumor, which was diagnosed as cystic lymphangioma. Cystic lymphangiomas are congenital cystic abnormalities of the lymphatic system. The head and neck area is often involved while the mediastinum is rarely affected. The rarity of this case is further attributed to the coexistence of situs inversus totalis.

  8. Two cases of cystic lesions in the parotid region diagnosed by CT sialogram

    International Nuclear Information System (INIS)

    Kubo, Masahiko; Ukai, Kotaro; Itoh, Hiroshi; Miyoshi, Yasuro; Itoh, Yukiko; Kohdera, Urara; Taki, Norio; Furukawa, Yuichi.

    1985-01-01

    This is a case report of two patients with cystic lesions in the parotid region. The diagnostic value of CT sialogram is discussed. A 62-year-old male had a swelling in the left parotid region which felt cystic on manual palpation. A CT sialogram clearly demonstrated a cystic mass superficial to the parotid gland. Histologically, the mass was an epidermoid cyst. A 9-year-old male had pain and swelling in the right parotid region which was not reduced by antibiotic therapy. An extraparotid abscess was diagnosed by CT sialogram 14 days after the onset. CT sialogram is effective in differentiating intrinsic from extrinsic parotid lesions and also shows the relationship of the tumor mass to the facial nerve and helps to differentiate between benign and malignant neoplasms. (author)

  9. Nursing diagnoses in children with congenital heart disease: a survival analysis.

    Science.gov (United States)

    Martins da Silva, Viviane; Lopes, Marcos Venícios de Oliveira; Leite de Araujo, Thelma

    2007-01-01

    To analyze the relationship between nursing diagnoses and survival rates in children with congenital heart disease. A total of 270 observations were carried out in 45 children with congenital heart disease who were followed for 15 days. Differences in mean survival times were identified in children not more than 4 months of age with respect to the following diagnoses: impaired gas exchange, ineffective breathing pattern, activity intolerance, delayed growth and development, and decreased cardiac output. The main diagnoses are identified early in the hospitalization period and are conditions resulting from hemodynamic alterations and prescribed medical treatment. Congenital heart disease provokes serious hemodynamic alterations that generate human responses, which should be treated proactively.

  10. [Congenital cystic lung lesions--review of the literature with three clinical cases].

    Science.gov (United States)

    Slancheva, B; Hitrova, S; Markov, D; Vakrilova, L; Pramatarova, T; Yarukova, N; Brankov, O

    2013-01-01

    Congenital cystic lung lesions are rare. Mainly affects the lower respiratory patishta.i are congenital cystic malformation and adematozna bronchopulmonary sequestration (BPS). The pathogenesis of the occurrence of these malformations is not clear but they have a common clinical course. In most cases, the anomaly is asymptomatic and occurs with infections of the lung during the first year of life. Currently congenital lung lesions were classified into five types and is considered by most authors. The anomaly is due to the abnormal proliferation of terminal bronchioles accompanied by inhibition of alveolar development between 7-17 weeks, obstructed airway dysplasia and metaplasia of normal lung tissue. Early diagnosis is vital in making a medical decision on how to treat CCAM. Associated with abnormalities of the urinary tract, cardiovascular system, gastrointestinal atresia, diaphragmatic hernia skeletal abnormalities. In pregnancies in which prenatal lung lesions weighs registered necessary series of ultrasound examinations to track finding and using the Doppler to assess how the blood supply of the fault. The clinical presentation of malformations is respiratory distress, respiratory infection, and dyspnea. The use of CT and MRA allows better visualization of the pulmonary lesions. With its combination with arteriography and bronchoscopy are used to differentiate CCAM and pulmonary sequestration. We present three cases with lung lesions were born in Neonatologia clinic at the University Hospital of Obstetrics and Gynecology "Maternity" Sofia for the period 2010-2012 three cases CCAMs type 1, operated by 5 meters after birth with a good final outcome without complications in the postoperative period and lack of pulmonary symptoms up to 1 year after birth.

  11. Information needs of parents of infants diagnosed with cystic fibrosis: Results of a pilot study.

    Science.gov (United States)

    Edwards, Danielle J; Wicking, Kristin; Smyth, Wendy; Shields, Linda; Douglas, Tonia

    2018-01-01

    This study investigated the information needs, priorities and information-seeking behaviours of parents of infants recently diagnosed with cystic fibrosis (CF) following newborn screening, by piloting the 'Care of Cystic Fibrosis Families Survey'. The questionnaires were posted to eligible parents ( n = 66) attending CF clinics in hospitals in two Australian states; reply-paid envelopes were provided for return of the questionnaires. Twenty-six were returned (response rate 39.4%). The most common questions to which parents required answers during their initial education period related to what CF is, how it is treated and how to care for their child. Parents preferred face-to-face consultations to deliver information, and yet all reported using the Internet to search for more information at some point during the education period. Many parents provided negative feedback about being given their child's CF diagnosis via telephone. The timing, content and method of information delivery can all affect the initial education experience. We can deliver education to better suit the information needs and priorities for education of parents of infants recently diagnosed with CF. The Care of Cystic Fibrosis Families Survey was successfully piloted and recommendations for amendments have been made for use in a larger study across Australia.

  12. Congenital Lobar Emphysema Associated with Cystic Adenomatoid Malformation Type I: Case Report

    International Nuclear Information System (INIS)

    Morales Riveros, Myriam; Henao, Liliana; Jaramillo B, Lina

    2011-01-01

    Congenital lung abnormalities are a heterogeneous group of alterations in lung development, and many of them are asymptomatic, but is important to know, they must enter the differential diagnosis of patients respiratory distress syndrome. Some of these lesions can coexist, the point where the pulmonary sequestration may present with adenomatoid malformation cystic type II in over 50% of cases. Although the final diagnosis for this histological type of injury is, images play an important role for initial approach. Natural history of these malformations depends lung the size of the lung mass and physiological problem that this causes. The CT multidetector computed expanded knowledge of lung anatomy and improves visualization of the tracheobronchial tree in the pediatric population.

  13. Congenital cystic adenomatoid malformations (CCAM) - prenatal MRI diagnosis: a case report

    International Nuclear Information System (INIS)

    Gagov, E.; Iieva, E.; Gvanska, G.

    2012-01-01

    Full text: Congenital Cystic Adenomatoid Malformation/CCAM (recently termed Congenital Pulmonary Airway Malformation/CPAM) is a rare lung lesion that is believed to result from a cessation of bronchiolar maturation with overgrowth of mesenchymal elements. The differential diagnosis of a mass in the fetal thorax includes CCAM/CPAM, congenital diaphragmatic hernia, and pulmonary sequestration. We present a case of CCAM/CPAM detected on prenatal ultrasound examination with prenatal magnetic resonance imaging (MRI) correlation. A multicystic lesion in the right hemithorax of the fetus was identified on ultrasound at 26th weeks of gestation which was slightly increasing in size on follow-up examinations. MRI was performed for further evaluation and selecting the appropriate management. On MRI the lesion was confined to the right middle lobe, consisting of a single large 3 cm cyst surrounded by multiple smaller cysts and compressed normal parenchyma of the upper and lower lobes of the right lung (type I, Stocker and al. classification). No mediastinal shift or other abnormalities to the contralateral lung were detected. No complications, such as hydrothorax or polyhydramnios were identified. Based on the MR findings postnatal surgical removal of the lung lesion was planned. Continuous weekly ultrasound follow-up examination was recommended. Improvements in magnetic resonance imaging (MRI) now permit diagnostic images of the fetus to be obtained. Ultrasound (US) remains vital in all aspects of fetal imaging but MR serves as a useful second line imaging test. MR imaging can provide excellent tissue contrast with more accurate analysis of the fetal anatomy and superior differentiation between the abnormalities and adjacent structures, thereby allowing early planning of pre- and postnatal management

  14. Neonatal goiter with congenital thyroid dysfunction in two infants diagnosed by MRI

    Energy Technology Data Exchange (ETDEWEB)

    Kondoh, Mutsuko [Department of Radiology, St. Marianna University, Seibu Hospital, Kanagawa (Japan); Department of Radiology, St. Marianna University School of Medicine, 2-16-1 Sugao, Miyamae-ku, Kawasaki, Kanagawa-ken 216-8511 (Japan); Miyazaki, Osamu; Imanishi, Yoshimasa; Hayakawa, Minako [Department of Radiology, St. Marianna University, Seibu Hospital, Kanagawa (Japan); Aikyou, Miho; Doi, Hiromi [Department of Pediatrics, St. Marianna University School of Medicine, Kanagawa (Japan)

    2004-07-01

    It is essential to diagnose thyroid dysfunction at an early stage because congenital hypothyroidism (CH) represents one of the most common preventable causes of delayed physical and psychological development, including mental retardation. US evaluates the shape of the thyroid gland. CT and scintigraphic examinations demonstrate iodine metabolism of the thyroid, but there is associated radiation exposure. We encountered two cases of congenital goiter, in which MRI was very helpful in confirming thyroid dysfunction and was very useful in making an accurate diagnosis. (orig.)

  15. Neonatal goiter with congenital thyroid dysfunction in two infants diagnosed by MRI

    International Nuclear Information System (INIS)

    Kondoh, Mutsuko; Miyazaki, Osamu; Imanishi, Yoshimasa; Hayakawa, Minako; Aikyou, Miho; Doi, Hiromi

    2004-01-01

    It is essential to diagnose thyroid dysfunction at an early stage because congenital hypothyroidism (CH) represents one of the most common preventable causes of delayed physical and psychological development, including mental retardation. US evaluates the shape of the thyroid gland. CT and scintigraphic examinations demonstrate iodine metabolism of the thyroid, but there is associated radiation exposure. We encountered two cases of congenital goiter, in which MRI was very helpful in confirming thyroid dysfunction and was very useful in making an accurate diagnosis. (orig.)

  16. Approaches to the management of antenatally diagnosed congenital tumours

    International Nuclear Information System (INIS)

    Mahony, Rhona; McParland, Peter

    2009-01-01

    Congenital fetal tumours are rare, but current imaging modalities including US and MRI facilitate antenatal diagnosis and investigation, allowing a presumptive diagnosis and management strategy. Although the prevalence of fetal tumours is difficult to ascertain, an incidence of 7.2 per 100,000 live births has previously been reported, with the incidence of neonatal malignancy estimated at 36.5 per million births. Teratomas and neuroblastomas are the most common solid tumours described. Tumours may be very large or associated with severe hydrops leading to significant dystocia with the potential for difficult vaginal or caesarean delivery. Once the diagnosis of a fetal tumour is made, optimal management incorporates a multidisciplinary approach including obstetrician, neonatologist, paediatric surgeon and paediatric oncologist so that counselling is appropriate and a clear management plan is in place for parents. (orig.)

  17. Approaches to the management of antenatally diagnosed congenital tumours

    Energy Technology Data Exchange (ETDEWEB)

    Mahony, Rhona; McParland, Peter [National Maternity Hospital, Department of Fetal and Maternal Medicine, Dublin (Ireland)

    2009-11-15

    Congenital fetal tumours are rare, but current imaging modalities including US and MRI facilitate antenatal diagnosis and investigation, allowing a presumptive diagnosis and management strategy. Although the prevalence of fetal tumours is difficult to ascertain, an incidence of 7.2 per 100,000 live births has previously been reported, with the incidence of neonatal malignancy estimated at 36.5 per million births. Teratomas and neuroblastomas are the most common solid tumours described. Tumours may be very large or associated with severe hydrops leading to significant dystocia with the potential for difficult vaginal or caesarean delivery. Once the diagnosis of a fetal tumour is made, optimal management incorporates a multidisciplinary approach including obstetrician, neonatologist, paediatric surgeon and paediatric oncologist so that counselling is appropriate and a clear management plan is in place for parents. (orig.)

  18. Metastatic tonsillar squamous cell carcinoma masquerading as a pancreatic cystic tumor and diagnosed by EUS-guided FNA.

    Science.gov (United States)

    Glass, Ryan; Andrawes, Sherif A; Hamele-Bena, Diane; Tong, Guo-Xia

    2017-11-01

    Metastatic carcinoma to the pancreas is uncommon and head and neck squamous carcinoma metastatic to the pancreas is extremely rare. Metastatic squamous cell carcinoma to the pancreas presents a unique diagnostic challenge: in addition to mimicking the rare primary squamous cell carcinoma of the pancreas based on cytologic, histologic, and immunohistochemical features, it may be mistaken for a cystic neoplasm of the pancreas because of its high predilection for cystic degeneration in metastatic sites. Herein, we report a case of tonsillar squamous cell carcinoma with a cystic pancreatic metastasis diagnosed by ultrasound-guided fine needle aspiration biopsy (EUS-FNA). This represents a third reported case of metastatic squamous cell carcinoma to the pancreas from the head and neck region. Metastatic squamous cell carcinoma should be considered in the differential diagnosis of EUS-FNA during evaluation of pancreatic cystic lesion. © 2017 Wiley Periodicals, Inc.

  19. Intellectual and motor development of young adults with congenital hypothyroidism diagnosed by neonatal screening.

    NARCIS (Netherlands)

    Kempers, M.J.E.; van der Sluijs-Veer, L.; Nijhuis-Van der Sanden, M.W.G.; Kooistra, L.; Wiedijk, B.M.; Faber, I.R.; Last, B.F.; Vijlder, J.J. de; Grootenhuis, M.A.; Vulsma, T.

    2006-01-01

    CONTEXT: Long-term follow-up data on cognitive and motor functioning in adult patients with congenital hypothyroidism, diagnosed by neonatal screening, are scarce. Hence, it is still unclear whether the frequently reported cognitive and motor deficits observed during childhood persist in adulthood.

  20. Intellectual and motor development of young adults with congenital hypothyroidism diagnosed by neonatal screening

    NARCIS (Netherlands)

    Kempers, M. J. E.; van der Sluijs Veer, L.; Nijhuis-van der Sanden, M. W. G.; Kooistra, L.; Wiedijk, B. M.; Faber, I.; Last, B. F.; de Vijlder, J. J. M.; Grootenhuis, M. A.; Vulsma, T.

    2006-01-01

    Long-term follow-up data on cognitive and motor functioning in adult patients with congenital hypothyroidism, diagnosed by neonatal screening, are scarce. Hence, it is still unclear whether the frequently reported cognitive and motor deficits observed during childhood persist in adulthood. The

  1. A case report of corgenotal cystic adenomatoid malformation

    International Nuclear Information System (INIS)

    Jun, Soon Ae; Cha, Kyung Sub; Chi, Je Geun

    1987-01-01

    Congenital cystic adnomatoid malformation (CCAM) is rare pulmonary cystic disease. CCAM has been detected on prematurity, stillborn and respiratory distress infant or child by chest X-ray film and CT scan. One case of CCAM diagnosed in utero at gestational age 22 weeks is reported with sonographic findings and autopsy findings. Ultrasonographic findings are large cystic lesion in fetal thorax and fetal hydrops without hydramnios. The survival of these infants is very poor despite accurate prenatal diagnosis and maximal postnatal care

  2. Unilateral right pulmonary artery agenesis and congenital cystic adenomatoid malformation of the right lung with Ortner′s syndrome

    Directory of Open Access Journals (Sweden)

    Jane Jackie David

    2016-01-01

    Full Text Available We report a 2.5-year-old girl who presented with hoarseness of voice since 3 months of age and failure to thrive. Chest X-ray showed cardiomegaly with a deviation of the trachea and mediastinum to the right side. Two-dimensional echocardiography showed decreased flow across the right pulmonary artery, a small atrial septal defect (ASD with a right-to-left shunt, and a dilated right atrium and right ventricle with severe tricuspid regurgitation suggestive of severe pulmonary hypertension. A silent large patent ductus arteriosus was also seen. Multiple detector computerized tomography aortogram confirmed the findings of absent right pulmonary artery and hypoplastic right lung with small cystic lesions suggestive of congenital cystic adenomatoid malformation in the right lower lobe. Hoarseness of voice was due to the left vocal cord palsy probably secondary to severe pulmonary hypertension (Ortner′s syndrome.

  3. [Symptoms, diagnosis and treatment of pancreaticobiliary maljunction associated with congenital cystic dilatation of bile duct].

    Science.gov (United States)

    Funabiki, T; Matsubara, T; Ochiai, M

    1996-08-01

    The concept of congenital biliary dilatation (CBD) was established by Alonso-Lej whose classification has been widely accepted and become a standard. Todani, Komi and several investigators then added additional subclassifications and/or made a proposal of new classification. The trias, abdominal pain, abdominal mass and jaundice, had been characteristically found in these cases, but recently asymptomatic cases are often found. Many reports have shown that the cases with cystic dilation of the biliary duct frequently associated with biliary carcinoma and pancreaticobiliary maljunction (PBM), an anomalous union of pancreatic duct with biliary tree since the Rabbit's first report. Whereas extracorporeal ultrasound and CT scan are minimally invasive diagnostic procedures for these cases, a direct cholangiography, ERCP and PTC are the diagnostic procedures that make a definite diagnosis for the appropriate treatment. Recently, endoscopic ultrasound (EUS), helical CT and magnetic resonance cholangiopan-creatography (MRCP) have drawn an attention since these methods are less invasive than those ever being used. In particular, MRCP will be suitable for the screening of preoperative examination. Whereas cystoduodenostomy used to be performed in the past for these cases, the resection of dilatted bule duct along with the diversion of bile from pancreatic juice should be performed to prevent biliary carcinoma. Cholecystectomy along with the resection of bile duct and the biliary diversion from pancreatic juice should also be performed for cases of PBM without CBD because mutagenicity of bile mixed with pancreatic juice and K-ras point mutation in noncancerous bile duct epithelium in cases of PBM without CBD were demonstrated.

  4. Radiological evaluation of the lungs in children with cystic fibrosis diagnosed during newborn screening examinations

    International Nuclear Information System (INIS)

    Iwanowska, B.; Kopys-Wiszniewska, I.; Sands, D.

    2006-01-01

    Cystic fibrosis is an inherited, autosomal, recessive disease. This disorder is caused by defects in the gene for cystic fibrosis transmembrane conductance regulator (CFTR), which encodes for a protein that functions as a chloride channel. Mutations in the gene for CFTR result in ion disorders, and consequently in disturbances of exocrine glands in the respiratory, gastrointestinal, and genitourinary tracts. Pulmonary involvement occurs in 90% of patients, and is the main cause of death. The diagnosis of CF in Poland is based on clinical symptoms and positive results of the sweat test. Diacrisis is usually reached late in the 3 rd year of life. In 1999-2003, newborn screening examinations were performed at the Mother and Child Institute. The idea of these studies was to establish a diagnosis and begin treatment as early as possible, even in the asymptomatic period of the disease. The level of immunoreactive trypsinogen was determined in the blood of 4-6-day-old newborns, as well as the mutation of gene CFTR. The mean age of CF diagnosis was about 38 days. The aim of our study was to assess the influence of early commencement of treatment on the rapidity of progression of pulmonary involvement. 59 children with CF diagnosed by screening were examined by chest radiography in various periods of the disease, the earliest in the neonatal period. Pulmonary involvement (hyperinflation, periobronchial thickening, pulmonary nodules, cysts, parenchymal density, atelectasis and fibrous changes) were assessed according to Brasfield score. The control group consisted of 19 children with symptomatic CF, born in 1997-2003.They were also examined by chest radiography. Various pulmonary changes were recognized in 42 children diagnosed by screening. In the control group pulmonary involvement was found in 16 children. In both groups progression was found in 28% of the children, but significant progression was seen in 7% of those children with a screening diagnosis, and in 25% of the

  5. Neurodevelopmental Outcome of Children with Congenital Hypothyroidism Diagnosed in a National Screening Program in Turkey.

    Science.gov (United States)

    Baysal, Bahar Toklu; Baysal, Bora; Genel, Ferah; Erdur, Baris; Ozbek, Erhan; Demir, Korcan; Ozkan, Behzat

    2017-05-15

    To study the factors affecting a neurodevelopmental status of children with congenital hypothyroidism, diagnosed on national screening program. The study was performed in the Pediatric Endocrinology Department of Dr. Behcet Uz Children's Hospital between May 2012 and May 2013. Children with congenital hypothyroidism, aged between 24 and 36 months, diagnosed by national screening program were included in the study group. Healthy subjects at the same age group consisted of the control group. For the neurodevelopmental evaluation, Bayley Scale of Infant Development- II (BSID-II) was used. Factors possibly effective on neurodevelopment were evaluated. 42 patients and 40 healthy children (mean (SD) age, 29.4 (3.7) and 29.2 (3.5), respectively were included in the study. The mean MDI score [92.6 (7.07) vs 97.1 (9.69), P=0.14)] and the mean PDI score [97.8 (15.68) vs 99.1 (10.57), P=0.66)] in the study group and control group were not significantly different. Among the patient, 4.6% and 4.7% children were moderately retarded as per the MDI scores and PPI scores, respectively. The sex, socioeconomic status, birth weight, screening levels of TSH, severity of the congenital hypothyroidism, initiation time and the dosage of thyroid hormone replacement, length of the normalization period of TSH, and adherence to treatment were not found to affect the MDI and PDI scores of the patients. Some children with congenital hypothyrodism may have mild to moderate neurodevelopmental retardation, despite the early diagnosis and treatment, and thus need to be under regular follow-up for neurodevelopmental status.

  6. Mesenteric cystic lymphangioma: a congenital and an acquired anomaly? Two cases and a review of the literature

    NARCIS (Netherlands)

    Weeda, Viola B.; Booij, Klaske A. C.; Aronson, Daniel C.

    2008-01-01

    Mesenteric cystic lymphangioma is an uncommon benign abdominal mass. Two cases of mesenteric cystic lymphangioma are presented, both in combination with malrotation and intermittent volvulus. Both mesenteric cystic lymphangiomas were located near the duodenojejunal junction, the usual area of

  7. Mesenteric cystic lymphangioma: a congenital and an acquired anomaly? Two cases and a review of the literature.

    NARCIS (Netherlands)

    Weeda, V.B.; Booij, K.A.; Aronson, D.C.

    2008-01-01

    Mesenteric cystic lymphangioma is an uncommon benign abdominal mass. Two cases of mesenteric cystic lymphangioma are presented, both in combination with malrotation and intermittent volvulus. Both mesenteric cystic lymphangiomas were located near the duodenojejunal junction, the usual area of

  8. Clinical features of congenital cystic disease of the mediastinum. Diagnostic usefulness of computed tomography and magnetic resonance imaging

    International Nuclear Information System (INIS)

    Bando, Masashi; Ishii, Yoshiki; Sugiyama, Yukihiko; Furuse, Makoto; Murayama, Fumio; Sohara, Yasunori

    2000-01-01

    We describe 18 cases of congenital mediastinal cysts, including 4 bronchogenic cysts, 5 pericardial cysts, and 9 thymic cysts. Fifteen of the 18 patients (62.5%) were asymptomatic, and the cysts were found incidentally on a chest radiograph conducted as a part of a physical screening. In 2 of the 4 cases of bronchogenic cysts, the cystic lesions were located in the posterior mediastinum and in the cephalad recess of the azgos vein (CRAzV). In 3 of the 5 cases of pericardial cysts, the lesions were located in the right cardio-phrenic region. In the remaining 2 cases, the cysts were located in the CRAzV and in the posterior mediastinum. Seventeen patients who had histologically proven mediastinal cysts were investigated by magnetic resonance (MR) imaging. In all 3 cases of bronchogenic cysts, MR signals of the cysts were of higher intensity than those of muscle on T1-weighted images. Neither the pericardial cysts nor the thymic cysts showed high signal intensity on T1-weighted images. Macroscopically, the intracystic fluids in all of the bronchogenic cysts contained viscid mucus that probably caused high signal intensities on the T1-weighted images. MR imaging is not only useful in revealing the location of mediastinal cysts, but also in the differential diagnosis of congenital mediastinal cysts. (author)

  9. Agenesis of the gallbladder with hypoplastic cystic duct diagnosed at laparoscopy.

    Science.gov (United States)

    Kwon, A-Hon; Yanagimoto, Hiroaki; Matsui, Yoichi; Imamura, Atsushi

    2006-08-01

    An 86-year-old man was admitted to our department with complaints of intermittent upper abdominal pain. Ultrasonography of the abdomen showed dilated extrahepatic bile ducts containing stones; however, the gallbladder was not clearly identified. Magnetic resonance cholangiopancreatography showed dilated extrahepatic ducts and choledocholithiasis without gallbladder visualization. The stone extraction was performed with endoscopic sphincterotomy. Three-dimensional images using spiral-computed tomography after intravenous-infusion cholangiography clearly demonstrated an obstruction of the cystic duct. The patient was scheduled for laparoscopic cholecystectomy. At laparoscopy, the gallbladder fossa was not identified on the undersurface of the liver. Despite a thorough examination of the intrahepatic (left-sided within the lesser omentum), retroperitoneal, retrohepatic (within the falciform ligament), retroduodenal, and retropancreatic areas using laparoscopic ultrasonography, the gallbladder was not found. After careful dissection of the hepatoduodenal ligament, the dilated extrahepatic bile duct and a 1-cm length of hypoplastic cystic duct were found. Gallbladder agenesis is usually accompanied by the lack of the cystic duct. The present case is the third report of gallbladder agenesis with a patent or hypoplastic cystic duct.

  10. Regional differences in right versus left congenital heart disease diagnoses in neonates in the United States.

    Science.gov (United States)

    Nelson, Jennifer S; Strassle, Paula D

    2018-03-01

    Differences in the prevalence of left and right congenital heart defects (CHD) across the United States are unclear. This study evaluated the overall prevalence and the distribution of right versus left CHD across US regions and divisions in neonates. Newborns born from 2000 to 2014 diagnosed with CHD were identified using the National Inpatient Sample. Heart defects were stratified into right, left, and "neither" subtypes. The risk of right and left heart diagnoses between US Census regions and divisions was compared using multivariable binomial regression, adjusting for infant, and hospital characteristics. Two hundred forty thousand four hundred fifty-five newborns were included and 38,185 (15.9%) were classifiable as having either right or left subtypes. Between 2000 and 2014, the prevalence of right defects increased from 1.65 to 2.88 cases/1,000 live born infants (p right heart defect diagnosis compared to the West. When stratified by division, New England states had a significantly higher prevalence of right defects compared to the Pacific (RD adj .09, 95% CI .06, 0.11). No differences in the prevalence of left defects were seen. The prevalence of CHD diagnoses at birth in the US has increased, and regional differences in the prevalence of right defects appear to exist. © 2017 Wiley Periodicals, Inc.

  11. Cervical Lymph Node Metastasis: Unusual Presentation of Adenoid Cystic Carcinoma - Diagnosed By FNAC

    Directory of Open Access Journals (Sweden)

    Archana Buch

    2015-01-01

    Full Text Available Adenoid cystic carcinoma (ACC is a rare neoplasm that usually arises from minor salivary glands. It is characteristically locally infiltrative, exhibiting perineural invasion, has a tendency for local recurrence and prolonged clinical course. A 60 year old male, chronic smoker presented with swelling of the left cervical lymph node since two months. Examination revealed a solitary firm, non tender, non mobile left cervical swelling measuring 2 x 1 cm. Fine Needle Aspiration Cytology (FNAC was done from the cervical lymph node. The diagnosis of metastatic deposits of ACC was given. Detail examination of the oral cavity revealed a small swelling at the floor of the mouth. Biopsy of the swelling confirmed ACC on histopathological examination. An unusual feature of adenoid cystic carcinoma is the low incidence of metastases to regional lymph nodes. The case is presented to highlight its unusual presentation and utility of FNAC in rapid diagnosis.

  12. Long-Term Nationwide Follow-Up Study of Simple Congenital Heart Disease Diagnosed in Otherwise Healthy Children

    DEFF Research Database (Denmark)

    Videbæk, Jørgen; Laursen, Henning Bækgaard; Olsen, Morten

    2016-01-01

    BACKGROUND: Systematic follow-up is currently not recommended for patients with simple congenital heart disease; however, only a few data exist on the long-term prognosis of simple congenital heart disease. METHODS AND RESULTS: We undertook a nationwide follow-up study of a cohort of 1241 simple...... congenital heart disease patients, diagnosed from 1963 through 1973, in otherwise healthy children and alive at 15 years of age. We identified 10 age- and sex-matched general population controls per patient. We followed the study population through Danish public registries from the age of 15 years up...... with simple congenital heart disease in the 1960s have substantially increased long-term mortality and cardiac morbidity compared with the general population. Further studies on the effectiveness of systematic medical follow-up programs appear warranted....

  13. Paleodysmorphology and paleoteratology: Diagnosing and interpreting congenital conditions of the skeleton in anthropological contexts

    NARCIS (Netherlands)

    Oostra, Roelof-Jan; Boer, Lucas; van der Merwe, Alie E.

    2016-01-01

    Most congenital conditions have low prevalence, but collectively they occur in a few percent of all live births. Congenital conditions are rarely encountered in anthropological studies, not least because many of them have no obvious effect on the skeleton. Here, we discuss two groups of congenital

  14. Congenital pulmonary airway malformation in a 36 year-old female

    OpenAIRE

    Barreiro, Timothy J.; Henn, Lucas; Ingnam, Sisham; Sypert, Michael

    2015-01-01

    Congenital pulmonary airway malformation (CPAM), previously known as congenital cystic adenomatoid malformation (CCAM), is an inborn abnormality of the lower respiratory system. Most often diagnosed in the perinatal period, these anomalies usually present with tachypnea, cyanosis, and respiratory distress. However, rare cases are asymptomatic and undiagnosed until adulthood.

  15. Evaluation of a bovine antibody test for diagnosing Mycobacterium avium complex in patients with cystic fibrosis

    DEFF Research Database (Denmark)

    Qvist, Tavs; Pressler, Tacjana; Katzenstein, Terese L.

    2017-01-01

    Introduction: The aim of this study was to test a commercial bovine enzyme-linked immunosorbent assay for investigating antibody activity against Mycobacterium avium complex. Methods: All patients at the Copenhagen Cystic Fibrosis (CF) Center who had culture for nontuberculous mycobacteria...... before and after culture conversion was performed in case patients. Results: Out of 286 included subjects, six had clinical M. avium complex pulmonary disease at the time of sera sampling. These patients presented with higher antibody test values (P-value ... at ruling out pulmonary disease. Screening sera from patients with CF could guide clinicians to focus attention on patients at higher risk of M. avium complex pulmonary disease. Pediatr Pulmonol. 2017;52:34–40....

  16. Pulse oximetry findings in newborns with antenatally diagnosed congenital heart disease.

    Science.gov (United States)

    Mawson, Isabel E; Babu, Pratusha L; Simpson, John M; Fox, Grenville F

    2018-05-01

    A retrospective review of admission preductal oxygen saturations of neonates with antenatally diagnosed critical congenital heart disease (CCHD) was performed to investigate the differences in newborn pulse oximetry (Pulsox) by specific CCHD diagnosis. Saturations were recorded at median of  34 weeks and birth weight > 1.8 kg. A statistically significant increase in the proportion with low admission saturations was seen using ≤ 95% saturation threshold (72% (95% CI 66-78)) compared to ≤ 92% (52% (95% CI 46-59)) and ≤ 90% (46% (95% CI 39-52)). Sub-group analysis found the proportion of neonates with low saturations varied according to the specific CCHD diagnosis with only 20-42% of neonates with aortic stenosis, coarctation of the aorta and pulmonary stenosis having saturations ≤ 95%. The proportion of neonates with low admission oxygen saturation varied by CCHD diagnosis with those without critically reduced pulmonary blood flow not having low admission saturations, in general, even using the ≤ 95% threshold which had the highest proportions of abnormal saturations. This data may assist developing Pulsox screening policies. What is Known: • The addition of pulse oximetry (Pulsox) screening to the routine newborn examination increases the sensitivity of CCHD detection. Pulsox screening is also highly specific for CCHD in asymptomatic neonates, with low false-positive rates. • Early diagnosis of CCHD improves patient outcomes in relation to both morbidity and mortality. What is New: • The proportion of affected infants with an abnormal Pulsox result varies by CCHD diagnosis and screening threshold. In our study using the ≤ 95% threshold gave the highest proportion of neonates with abnormal saturations at admission. • In general, Pulsox yield of abnormal results is low for CCHD diagnoses not associated with critically reduced pulmonary blood flow; however, increasing the Pulsox threshold increased the proportion of infants with an

  17. Congenital cystic adenomatoid malformation of the lung. Presentation of 16 cases

    Energy Technology Data Exchange (ETDEWEB)

    Beluffi, G. (IRCCS Politechnico S. Matteo, Pavia (Italy)); Brokensha, C. (Alder Hey Children' s Hospital, Liverpool (UK)); Kozlowski, K. (Royal Alexandra Hospital for Children, Sydney (Australia)); Lucaya, J. (Ciudad Sanitaria de la Seguridad Social, Barcelona (Spain). Clinica Infantil); Masel, J. (Royal Children' s Hospital, Brisbane (Australia)); Morris, L. (Adelaide Children' s Hospital (Australia)); Rosso, R. (Pavia Univ. (Italy). Inst. of Anatomic Patology); Stronati, M. (Pavia Univ. (Italy). Div. of Neonatal Pathology); Thomson, R. (Princess Margaret Hospital for Children, Perth (Australia))

    1989-05-01

    Sixteen cases of CCAM are presented, one with bilateral disease, diagnosed at different times, and one with an associated prune belly syndrome, to be added to the 405 already reported in the literature, and their clinical, radiological and pathological features are described. (orig./MG).

  18. Medullary cystic disease of the kidney: report of a case diagnosed by ultrasonography and computed tomography examinations

    International Nuclear Information System (INIS)

    Carvalho, Tarcisio Nunes; Araujo Junior, Cyrillo Rodrigues de; Fraguas Filho, Sergio Roberto; Costa, Marlos Augusto Bittencourt; Teixeira, Kim-Ir-Sen Santos; Ribeiro, Flavia Aparecida de Souza

    2003-01-01

    The terms medullary cystic disease, juvenile nephronophthisis or medullary cystic disease complex refer to a group of similar diseases in which the basic pathological abnormality is progressive renal tubular atrophy with secondary glomerular sclerosis and medullary cystic formation. Medullary cystic disease is an important cause of renal failure in adolescent patients. Imaging methods play a primary role in the diagnosis of these diseases. Cysts are characteristically seen in the renal medulla and cortico medullary junction whereas kidneys may be of normal to small size. In this article we present the ultrasonography and computed tomography findings of a female adolescent patient with characteristic clinical picture of medullary cystic disease. (author)

  19. Proposal of a CT scoring system of the paranasal sinuses in diagnosing cystic fibrosis

    International Nuclear Information System (INIS)

    Eggesboe, H.B.; Soevik, S.; Doelvik, S.; Eiklid, K.; Kolmannskog, F.

    2003-01-01

    The purpose of this study was to develop a paranasal sinus CT scoring system that could be used as a diagnostic tool to discriminate cystic fibrosis (CF) patients from control patients examined for sinonasal disease. The model should include as few and easily applicable criteria as possible, supported by statistical analyses and clinical judgement. We used data from 116 CF and 136 control patients. The CF patients were grouped according to the number of confirmed CF mutations: genetically verified (CF-2), or based on sweat testing and clinical findings alone (CF-1, CF-0). Nine paranasal sinus CT criteria, including development, pneumatisation variants and inflammatory patterns, were evaluated. The final model included three criteria: (a) frontal and (b) sphenoid sinus development, and (c) absence of three pneumatisation variants. This model discriminated CF-2 from controls with overlap of summed scores in only 8 of 206 patients. When this model was applied in the CF-1 and CF-0 groups, two populations seemed to exist. A larger group with summed scores overlapping that of the CF-2 group and a smaller group with summed scores overlapping that of the control group. We conclude that this CT scoring system may support, as well as exclude, a CF diagnosis in cases of diagnostic uncertainty. (orig.)

  20. What follows newborn screening? An evaluation of a residential education program for parents of infants with newly diagnosed cystic fibrosis.

    Science.gov (United States)

    Sawyer, Susan M; Glazner, Judith A

    2004-08-01

    The diagnosis of a severe life-limiting condition, such as cystic fibrosis (CF), is generally followed by assessment and treatment of the child and education and counseling for parents. The introduction of newborn screening for CF provides an opportunity for standardized assessment and education. The aim of this study was to evaluate a 5-day residential assessment and education program for parents of infants who receive a diagnosis of CF after newborn screening. Eligible parents had a 6- to 30-month-old infant with CF diagnosed by newborn screening. Parents were interviewed by telephone using a structured questionnaire that addressed 3 main themes: 1) initial communication of the diagnosis of CF, 2) the perceived value of the 5-day assessment and education program, and 3) the perceived advantages and disadvantages of the residential component (Care-By-Parent unit) of the program. Fifteen of 17 eligible families took part in the 5-day assessment and education program, 12 of whom used the residential Care-By-Parent unit. At the end of the program, parents believed that they had the knowledge and skills required to manage their child's CF at home. One hundred percent endorsed the timing of the assessment and education program immediately after the child's diagnosis and would recommend it to other families in the same situation. Perceived advantages of the residential program were not having to travel (89%), being able to concentrate on CF (50%), and the benefit of a "home base" at the hospital (39%). Twenty-two percent reported that financial costs related to participation (paternal time off work) were a disadvantage, 17% reported additional strain on family members caring for siblings, and 17% mentioned lack of comfort within the unit. This time-intensive residential program was evaluated positively by parents of children with newly diagnosed CF. It provides a model for education programs after the diagnosis of CF by newborn screening, as well as for other pediatric

  1. Newly diagnosed congenital factor VII deficiency and utilization of recombinant activated factor VII (NovoSeven(®)).

    Science.gov (United States)

    Bartosh, Nicole S; Tomlin, Tara; Cable, Christian; Halka, Kathleen

    2013-01-01

    This case report presents a newly diagnosed congenital factor VII deficiency treated with recombinant activated factor VII (rFVIIa). Congenital factor VII deficiency is a rare autosomal-recessive bleeding disorder that occurs in fewer than 1/500,000 persons. Its presentation can vary from epistaxis to hemarthroses and severe central nervous system bleeding, and correlates poorly with factor VII levels. Our patient had not had a significant hemostatic challenge prior to his presentation and therefore never had any symptomatology suggestive of this disease. He was treated with rFVIIa, and was able to undergo repair of his fractures without bleeding. A 19-year-old African-American male presented to the emergency room after an altercation that resulted in significant trauma. He sustained bilateral mandibular angle fractures and orbital floor fractures, requiring urgent surgical correction. On initial evaluation, he was noted to have a prolonged prothrombin time of 40.1 seconds, with an International Normalized Ratio of 4.0, a normal activated partial thromboplastin time of 29.9 seconds, and a platelet count of 241. After receiving vitamin K and fresh frozen plasma, he was taken to the operating room for a temporary rigid maxillomandibular fixation. A 1:1 mixing study with normal plasma corrected the prothrombin time (decreasing from 40.7 to 14.7 seconds) and a factor VII assay revealed 5% of the normal factor VII level. The patient was diagnosed with congenital factor VII deficiency. Due to his coagulopathy and the extensive surgical correction needed, rFVIIa was administered and surgery was accomplished without hemorrhagic sequelae. This case report and review describes a rare congenital disease, the history of rFVIIa use, and its mechanism. rFVIIA use in our patient provided a treatment option that allowed the necessary surgical correction, but further prospective studies on dose optimization would ensure adequate dosing with minimal risk of severe side effects.

  2. Newly diagnosed congenital factor VII deficiency and utilization of recombinant activated factor VII (NovoSeven®)

    Science.gov (United States)

    Bartosh, Nicole S; Tomlin, Tara; Cable, Christian; Halka, Kathleen

    2013-01-01

    This case report presents a newly diagnosed congenital factor VII deficiency treated with recombinant activated factor VII (rFVIIa). Congenital factor VII deficiency is a rare autosomal-recessive bleeding disorder that occurs in fewer than 1/500,000 persons. Its presentation can vary from epistaxis to hemarthroses and severe central nervous system bleeding, and correlates poorly with factor VII levels. Our patient had not had a significant hemostatic challenge prior to his presentation and therefore never had any symptomatology suggestive of this disease. He was treated with rFVIIa, and was able to undergo repair of his fractures without bleeding. Case report A 19-year-old African-American male presented to the emergency room after an altercation that resulted in significant trauma. He sustained bilateral mandibular angle fractures and orbital floor fractures, requiring urgent surgical correction. On initial evaluation, he was noted to have a prolonged prothrombin time of 40.1 seconds, with an International Normalized Ratio of 4.0, a normal activated partial thromboplastin time of 29.9 seconds, and a platelet count of 241. After receiving vitamin K and fresh frozen plasma, he was taken to the operating room for a temporary rigid maxillomandibular fixation. A 1:1 mixing study with normal plasma corrected the prothrombin time (decreasing from 40.7 to 14.7 seconds) and a factor VII assay revealed 5% of the normal factor VII level. The patient was diagnosed with congenital factor VII deficiency. Due to his coagulopathy and the extensive surgical correction needed, rFVIIa was administered and surgery was accomplished without hemorrhagic sequelae. Conclusion This case report and review describes a rare congenital disease, the history of rFVIIa use, and its mechanism. rFVIIA use in our patient provided a treatment option that allowed the necessary surgical correction, but further prospective studies on dose optimization would ensure adequate dosing with minimal risk of

  3. Diagnosing and staging of cystic echinococcosis: how do CT and MRI perform in comparison to ultrasound?

    Directory of Open Access Journals (Sweden)

    Marija Stojkovic

    Full Text Available BACKGROUND: Imaging plays the key role in diagnosing and staging of CE. The description of CE-specific imaging features and the WHO CE cyst classification is based on ultrasound. The reproducibility of the ultrasound-defined features of CE cysts is variable in MR- and CT-imaging. This is of particular importance for cysts that are not accessible by US and because of the increasing availability and overuse of CT and MR imaging. METHODOLOGY/PRINCIPAL FINDINGS: Retrospective analysis of patients with abdominal CE cysts of an interdisciplinary CE clinic who had CT and/or MRI scans performed additionally to US imaging. All images were read and interpreted by the same senior radiologist experienced in the diagnosis of CE. US, CT and MR images were staged according to the WHO classification criteria. The agreement beyond chance was quantified by kappa coefficients (κ. 107 patients with 187 CE cysts met the inclusion criteria. All cysts were assessed by US, 138 by CT, and 125 by MRI. The level of agreement beyond chance of the individual CE stages 1-4 was clearly lower for CT, with κ ranging from 0.62 to 0.72, compared to MRI with values of κ between 0.83 and 1.0. For CE5 cysts CT (κ = 0.95 performed better than MRI (κ = 0.65. CONCLUSIONS: Ultrasound remains the corner stone of diagnosis, staging and follow up of CE cysts. MRI reproduces the ultrasound-defined features of CE better than CT. If US cannot be performed due to cyst location or patient-specific reasons MRI with heavily T2-weighted series is preferable to CT.

  4. Air trapping on chest CT is associated with worse ventilation distribution in infants with cystic fibrosis diagnosed following newborn screening.

    Directory of Open Access Journals (Sweden)

    Graham L Hall

    Full Text Available BACKGROUND: In school-aged children with cystic fibrosis (CF structural lung damage assessed using chest CT is associated with abnormal ventilation distribution. The primary objective of this analysis was to determine the relationships between ventilation distribution outcomes and the presence and extent of structural damage as assessed by chest CT in infants and young children with CF. METHODS: Data of infants and young children with CF diagnosed following newborn screening consecutively reviewed between August 2005 and December 2009 were analysed. Ventilation distribution (lung clearance index and the first and second moment ratios [LCI, M(1/M(0 and M(2/M(0, respectively], chest CT and airway pathology from bronchoalveolar lavage were determined at diagnosis and then annually. The chest CT scans were evaluated for the presence or absence of bronchiectasis and air trapping. RESULTS: Matched lung function, chest CT and pathology outcomes were available in 49 infants (31 male with bronchiectasis and air trapping present in 13 (27% and 24 (49% infants, respectively. The presence of bronchiectasis or air trapping was associated with increased M(2/M(0 but not LCI or M(1/M(0. There was a weak, but statistically significant association between the extent of air trapping and all ventilation distribution outcomes. CONCLUSION: These findings suggest that in early CF lung disease there are weak associations between ventilation distribution and lung damage from chest CT. These finding are in contrast to those reported in older children. These findings suggest that assessments of LCI could not be used to replace a chest CT scan for the assessment of structural lung disease in the first two years of life. Further research in which both MBW and chest CT outcomes are obtained is required to assess the role of ventilation distribution in tracking the progression of lung damage in infants with CF.

  5. Evaluation of Cognitive and Motor Development in Toddlers With Congenital Hypothyroidism Diagnosed by Neonatal Screening

    NARCIS (Netherlands)

    van der Sluijs Veer, L.; Kempers, M.J.E.; Wiedijk, B.M.; Last, B.F.; Grootenhuis, M.A.; Vulsma, T.

    2012-01-01

    OBJECTIVE: The Dutch neonatal congenital hypothyroidism (CH) screening procedure and treatment modality has been adapted several times since its national institution in 1981. These changes enabled us to investigate whether earlier treatment has resulted in improved cognitive and motor outcomes. The

  6. Evaluation of cognitive and motor development in toddlers with congenital hypothyroidism diagnosed by neonatal screening

    NARCIS (Netherlands)

    van der Sluijs Veer, L.; Kempers, M.J.; Wiedijk, B.M.; Last, B.F.; Grootenhuis, M.A.; Vulsma, T.

    2012-01-01

    OBJECTIVE: The Dutch neonatal congenital hypothyroidism (CH) screening procedure and treatment modality has been adapted several times since its national institution in 1981. These changes enabled us to investigate whether earlier treatment has resulted in improved cognitive and motor outcomes. The

  7. Evaluation of Cognitive and Motor Development in Toddlers With Congenital Hypothyroidism Diagnosed by Neonatal Screening

    NARCIS (Netherlands)

    van der Sluijs Veer, Liesbeth; Kempers, Marlies J. E.; Wiedijk, Brenda M.; Last, Bob F.; Grootenhuis, Martha A.; Vulsma, Tom

    2012-01-01

    Objective: The Dutch neonatal congenital hypothyroidism (CH) screening procedure and treatment modality has been adapted several times since its national institution in 1981. These changes enabled us to investigate whether earlier treatment has resulted in improved cognitive and motor outcomes. The

  8. Congenital bronchopulmonary foregut malformation initially diagnosed as esophageal atresia type C: challenging diagnosis and treatment

    NARCIS (Netherlands)

    Boersma, Doeke; Koot, Bart G.; van der Griendt, Erik Jonas; van Rijn, Rick R.; van der Steeg, Alida F.

    2012-01-01

    Communicating bronchopulmonary foregut malformations are extremely rare congenital malformations, characterized by a communicating fistula between an isolated part of the respiratory system and the esophagus or the stomach. In this article, we present a case of esophageal atresia type C, later

  9. Congenital tracheobiliary fistula diagnosed with contrast-enhanced CT and 3-D reformation

    Energy Technology Data Exchange (ETDEWEB)

    Chawla, Soni C. [Olive View-UCLA Medical Center, Department of Radiological Sciences, Sylmar, CA (United States); University of California, Los Angeles (UCLA), Department of Radiological Sciences, Sylmar, CA (United States); Jha, Priyanka; Breiman, Richard; Gooding, Charles [University of California, San Francisco (UCSF), Department of Radiological Sciences, San Francisco, CA (United States); Farmer, Diana [University of California, San Francisco (UCSF), Department of Pediatric Surgery, San Francisco, CA (United States)

    2008-09-15

    Congenital tracheobiliary fistula (CTBF) is a rare malformation. So far 24 cases have been reported in the English language literature. The imaging techniques used in diagnosis have been bronchography, fistulography, cholangiography, hepatobiliary nuclear imaging and MRI. We report a newborn patient who presented with right lung consolidation and biliptysis. The radiographic diagnosis of tracheobiliary fistula was made on multidetector CT scan of the chest and abdomen. Multiple 3-D volume-rendered reformations were performed. An abnormal air-filled tract was seen connecting the posteroinferior aspect of the carina and left biliary system, which was successfully treated surgically. (orig.)

  10. Antenatal diagnosis of cystic adenomatoid malformation: Effect on patient management

    International Nuclear Information System (INIS)

    Claiborne, A.K.; McAlister, W.H.; Martin, C.M.; Gast, M.J.

    1985-01-01

    Congenital adenomatoid malformation (CAM) of the lung was diagnosed at 30 weeks gestation. The mother presented with preterm labor and polyhydramnios. A complex cystic mass was seen in the right lung of the fetus. Additional radiographic and sonographic investigations prior to delivery allowed differentiation of this rare lesion from other cystic thoracic pathology of the fetal period. Careful hospital obstetric management of the mother and fetus for over 3 weeks allowed the delivery of an infant with adequate pulmonary maturity to permit stabilization and surgery on the baby in the first days of life. (orig.)

  11. Unlikely culprit: congenital middle aortic syndrome diagnosed in the sixth decade of life.

    Science.gov (United States)

    Ali, Muhammad Sajawal; Tchernodrinski, Stefan; Mohananey, Divyanshu; Ali, Ahya Sajawal

    2016-08-16

    A 58-year-old woman was admitted with acute heart failure. She had a long history of resistant hypertension, with an unremarkable work up for secondary causes in the past. Her brachial blood pressure was 210/70 mm Hg, with ankle blood pressure of 100/70 mm Hg. CT angiogram revealed marked narrowing of the descending thoracic aorta between the left subclavian artery and the diaphragm, consistent with middle aortic syndrome (MAS). She was initially managed with diuretics and antihypertensives. Subsequently thoracotomy revealed a severely hypoplastic segment of the descending aorta. The diseased segment was resected and aortic reconstruction performed. Histopathology showed fragmentation of the medial elastic fibres and fibrosis of the medial and intimal layers. These findings along with gross aortic hypoplasia and absence of features of Takayasu's arteritis, suggest that our patient had congenital MAS. The patient has done well since her surgery. We believe this is the first case of congenital MAS reported in the sixth decade of life. 2016 BMJ Publishing Group Ltd.

  12. Non-neoplastic cystic and cystic-like lesions of the pancreas: may mimic pancreatic cystic neoplasms.

    Science.gov (United States)

    Goh, Brian K P; Tan, Yu-Meng; Chung, Yaw-Fui A; Chow, Pierce K H; Ong, Hock-Soo; Lim, Dennis T H; Wong, Wai-Keong; Ooi, London L P J

    2006-05-01

    Cystic lesions of the pancreas consist of a broad range of pathological entities. With the exception of the pancreatic pseudocyst, these are usually caused by pancreatic cystic neoplasms. Non-neoplastic pancreatic cystic and cystic-like lesions are extremely rare. In the present article, the surgical experience with these unusual entities over a 14-year period is reported. Between 1991 and 2004, all patients who underwent surgical exploration for a cystic lesion of the pancreas were retrospectively reviewed. Patients with a pancreatic pseudocyst were excluded. There were 106 patients of whom 8 (7.5%) had a final pathological diagnosis consistent with a non-neoplastic pancreatic cystic or cystic-like lesion, including 3 patients with a benign epithelial cyst, 2 with a pancreatic abscess (one tuberculous and one foreign body), 2 with mucous retention cysts and 1 with a mucinous non-neoplastic cyst. These eight patients are the focus of this study. There were six female and two male patients with a median age of 61.5 years (range, 41-71 years). All the patients were of Asian origin including seven Chinese and one Indian. Four of the patients were asymptomatic and their pancreatic cysts were discovered incidentally on radiological imaging for other indications. All the patients underwent preoperative radiological investigations, including ultrasonography, computed tomography or magnetic resonance imaging, which showed a cystic lesion of the pancreas. Three patients, all of whom were symptomatic, were diagnosed preoperatively with a malignant cystic neoplasm on the basis of radiological imaging. Two patients were eventually found to have a pancreatic abscess, one tuberculous and the other, secondary to foreign body perforation. The third patient was found on final histology to have chronic pancreatitis with retention cysts. The remaining five patients had a preoperative diagnosis of an indeterminate cyst; on pathological examination, they were found to have a benign

  13. [Tracheobronchial and pulmonary parenchymatous congenital abnormalities requiring surgical treatment in adults].

    Science.gov (United States)

    Mordant, P; De Dominicis, F; Berna, P; Riquet, M

    2012-04-01

    Most tracheobronchial and parenchymatous congenital abnormalities of the respiratory system are diagnosed in early life. However, some lesions may be initially silent and diagnosed only in adulthood. These cases included congenital abnormalies of the tracheobronchial tract (tracheal and/or bronchial stenosis, bronchogenic cysts, bronchial atresia, oesotracheal fistula, oesobronchial fistula, and tracheal diverticulum), and lung parenchyma itself (pulmonary sequestration, congenital cystic adenomatoïd malformation, lobar emphysema, lobar or lung hypoplasia). To avoid dreadful complications, these rare cases deserve surgical management, and must be known by chest physicians and surgeons. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  14. Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients

    Energy Technology Data Exchange (ETDEWEB)

    Mercier, B.; Verlingue, C.; Audrezet, M.P.; Ferec, C. [Centre de Biogenetique C.D.T.S., Brest (France); Lissens, W.; Bonduelle, M. [University Hospital VUB, Brussels (United Kingdom); Silber, S.J. [St. Luke`s Hospital, St. Louis, MO (United States); Novelli, G. [Catholic Univ. of Rome (Italy)

    1995-01-01

    Congenital bilateral absence of the vas deferens (CBAVD) is an important cause of sterility in men. Although the genetic basis of this condition is still unclear, it has been shown recently that some of these patients carry mutations in their cystic fibrosis transmembrane conductance regulator (CFTR) genes. To extend this observation, we have analyzed the entire coding sequence of the CFTR gene in a cohort of 67 men with CBAVD, who are otherwise healthy. We have identified four novel missense mutations (A800G, G149R, R258G, and E193K). We have shown that 42% of subjects were carriers of one CFTR allele and that 24% are compound heterozygous for CFTR alleles. Thus, we have been unable to identify 76% of these patients as carrying two CFTR mutations. Furthermore, we have described the segregation of CFTR haplotypes in the family of one CBAVD male; in this family are two male siblings, with identical CFTR loci but displaying different phenotypes, one of them being fertile and the other sterile. The data presented in this family, indicating a discordance between the CBAVD phenotype and a marked carrier ({delta}F508) chromosome, support the involvement of another gene(s), in the etiology of CBAVD. 35 refs., 2 figs., 1 tab.

  15. Challenges in the prenatal and post-natal diagnosis of mediastinal cystic hygroma: a case report

    Directory of Open Access Journals (Sweden)

    Nazir Sarfraz

    2008-08-01

    Full Text Available Abstract Introduction Cystic hygroma is a benign congenital neoplasm that mostly presents as a soft-tissue mass in the posterior triangle of the neck. Pure mediastinal lesions are uncommon; the vast majority are asymptomatic and are an incidental finding in adulthood. The diagnosis is often made intra- or postoperatively. Prenatal identification is exceptional and post-natal diagnosis also proves challenging. Case presentation We report one such case that was mistaken for other entities in both the prenatal and immediate post-natal period. Initial and follow-up antenatal ultrasound scans demonstrated a multicystic lesion in the left chest, and the mother was counselled about the possibility of her baby having a congenital diaphragmatic hernia. Initial post-natal chest radiographs were reported as normal. An echocardiogram and thoracic computed tomography scan confirmed a complex multiloculated cystic mediastinal mass. The working diagnoses were of a mediastinal teratoma or congenital cystic adenomatous malformation. At operation, the lesion was compressed by the left lung and was found to be close to the left phrenic nerve, which was carefully identified and preserved. After excision, histopathological examination of the mass confirmed the diagnosis of cystic hygroma. Postoperative dyspnoea was observed secondary to paradoxical movement of the left hemidiaphragm and probable left phrenic neuropraxia. This settled conservatively with excellent recovery. Conclusion Despite the fact that isolated intrathoracic cystic hygroma is a rare entity, it needs to be considered in the differential diagnosis of foetal and neonatal mediastinal masses, particularly for juxtadiaphragmatic lesions. The phrenic nerve is not identifiable on prenatal ultrasound imaging, and it is therefore understandable that a mass close to the diaphragm may be mistaken for a congenital diaphragmatic hernia because of the location, morphology and potential phrenic nerve compression

  16. Cystic thymic diseases: CT manifestations

    International Nuclear Information System (INIS)

    Song, Soon Young; Choi, Yo Won; Jeon, Eui Yong; Jeon, Seok Chol; Seo, Heung Suk; Hahm, Chang Kok

    1995-01-01

    To describe CT findings and differential points of cystic thymic lesions. We evaluated retrospectively total 19 masses with well marginated cystic lesions at thymic area on CT scans. They were 10 teratomas, 3 congenital thymic cysts, 2 multilocular thymic cysts(associated with thymoma and myasthenia gravis in each), 2 cysts Assciated with thymic Hodgkin's lymphomas an ectopic parathyroid cyst, and an infected thymic cyst. The radiological abnormalities evaluated were thickness of the wall, presence or abscene of septa, mural nodule, solid component, calcification and fat component. All three cases of congenital thymic cysts and an ectopic parathyroid cyst appeared as thin-walled unilocular cyst with homogeneous internal density and without identifiable solid component. In multilocular thymic cyst, there were thick wall and solid components(n =2), thick internal septa and calcifications(n = 1). The cysts of teratomas manifested thick walls(n = 9), internal septa(n = 4), calcifications(n = 6), fat components(n = 4), and solid components(n = 4). Cysts in Hodgkin's diseases appeared as multilocular or unilocular and had thick wall and septa without calcification. Infected thymic cyst presented with multilocular cystic mass with identifiable wall and septa, calcification, and solid components. The thymic diseases with cystic lesion include teratomas, congenital thymic cysts, multilocular thymic cysts, parathyroid cyst, and Hodgkin's disease. Congenital thymic cyst and ectopic parathyroid cyst are thin-walled unilocular cystic lesions. Cystic lesions associated with teratoma, Hodgkin's disease, and multilocular thymic cyst are thick-walled cystic lesions with or without solid component

  17. Congenital transmesenteric hernia presenting as neonatal ascites

    Directory of Open Access Journals (Sweden)

    Andreia Felizes

    2018-01-01

    Full Text Available Transmesenteric hernia is an internal hernia without sac, which forms through a congenital mesentery defect. Mostly diagnosed intraoperatively, it as a variable prognosis, which can lead to high morbidity and mortality.The authors describe a case of transmesenteric hernia that presented as isolated fetal ascites. A 34 week preterm baby was delivered by forceps, with respiratory compromise due to abdominal distension. Orotracheal intubation and evacuation paracentesis were performed. After excluding major causes of neonatal ascites and persistent bowel loop distension, the newborn underwent an exploratory laparotomy, where a transmesenteric hernia and pellets of meconium were identified. Hernia reduction, enterectomy and enterostomies were performed, with good outcome. Cystic fibrosis was diagnosed during post-operatory period.This is the first reported case of transmesenteric hernia presenting as fetal ascites, without associated morbidity or mortality due to an early intervention. Keywords: Transmesenteric hernia, Fetal ascites, Cystic fibrosis

  18. Children diagnosed with congenital cardiac malformations at the national university departments of pediatric cardiology: positive predictive values of data in the Danish National Patient Registry

    Directory of Open Access Journals (Sweden)

    Peter Agergaard

    2011-02-01

    Full Text Available Peter Agergaard1, Anders Hebert2, Jesper Bjerre3, Karina Meden Sørensen4, Charlotte Olesen3, John Rosendal Østergaard31Department of Pediatrics, Viborg Hospital, Viborg, Denmark; 2Department of Pediatrics, Copenhagen University Hospital, Rigshospitalet, Denmark; 3Department of Pediatrics, Aarhus University Hospital, Skejby, Denmark; 4Department of Clinical Biochemistry and Immunology, Statens Serum Institut, Copenhagen, DenmarkIntroduction: The present study was conducted to establish the positive predictive value of congenital cardiac malformation diagnoses registered in the Danish National Patient Registry (NPR, thereby exploring whether the NPR can serve as a valid tool for epidemiologic studies of congenital cardiac malformations.Materials and methods: The study population comprised every individual born from 2000 to 2008 who was registered in the NPR with a congenital cardiac malformation diagnosis and treated at one of the two national departments of pediatric cardiology. Positive predictive values were established comparing NPR information with the clinical record of each individual.Results: A total of 2952 patients with a total of 3536 diagnoses were eligible for validation. Review of their clinical records unveiled no patient without cardiac malformation. In 98% (98%–99% of the cases, the NPR diagnosis could be found as the discharge diagnosis in the patient's clinical record, and in 90% (89%–91% of the cases the NPR diagnosis was considered a true reflection of the patient's actual malformation.Conclusions: Our study verifies that the present study population retrieved from the NPR is a valid tool for epidemiological research within the topic of congenital cardiac malformations, given that the research question is not dependent on a fully established sensitivity of the NPR. Precautions should be made regarding cardiac malformations characterized by low prevalence or poor predictive values, and the reported validity should not be

  19. Congenital orbital teratoma

    OpenAIRE

    Aiyub, Shereen; Chan, Weng Onn; Szetu, John; Sullivan, Laurence J; Pater, John; Cooper, Peter; Selva, Dinesh

    2013-01-01

    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 p...

  20. Fatal Airway Obstruction in a Man With a Cystic Hygroma.

    Science.gov (United States)

    Wygant, Cassandra Maria; Cohle, Stephen D

    2018-05-03

    We describe a 24-year-old man with a cystic hygroma of the left side of the lower neck that led to sudden death. Cystic hygroma (cystic lymphangioma) is a congenital malformation of the lymphatic system. The patient, who had a tracheostomy because of airway obstruction from the cystic hygroma, was found dead with his tracheostomy tube on the floor next to him. Complications of cystic hygroma include infiltration of the neck causing airway obstruction, dysphagia, pain, and obstructive sleep apnea.

  1. Quality of life, developmental milestones, and self-esteem of young adults with congenital hypothyroidism diagnosed by neonatal screening

    NARCIS (Netherlands)

    van der Sluijs Veer, L.; Kempers, M. J. E.; Last, B. F.; Vulsma, T.; Grootenhuis, M. A.

    2008-01-01

    CONTEXT: With advances in the treatment of congenital hypothyroidism (CH), the neuropsychological functioning of CH patients is considerably improved. Although much is written about cognitive and motor development, little is known about emotional and social consequences for patients growing up with

  2. Quality of life, developmental milestones, and self-esteem of young adults with congenital hypothyroidism diagnosed by neonatal screening

    NARCIS (Netherlands)

    van der Sluijs Veer, L.; Kempers, M.J.; Last, B.F.; Vulsma, T.; Grootenhuis, M.A.

    2008-01-01

    Context: With advances in the treatment of congenital hypothyroidism (CH), the neuropsychological functioning of CH patients is considerably improved. Although much is written about cognitive and motor development, little is known about emotional and social consequences for patients growing up with

  3. Quality of life, developmental milestones, and self-esteem of young adults with congenital hypothyroidism diagnosed by neonatal screening.

    NARCIS (Netherlands)

    Sluijs-Veer, L. van der; Kempers, M.J.E.; Last, B.F.; Vulsma, T.; Grootenhuis, M.A.

    2008-01-01

    CONTEXT: With advances in the treatment of congenital hypothyroidism (CH), the neuropsychological functioning of CH patients is considerably improved. Although much is written about cognitive and motor development, little is known about emotional and social consequences for patients growing up with

  4. Congenital nasal pyriform aperture stenosis as a cause of respiratory distress in newborns: presentation diagnosed by menas of CT

    International Nuclear Information System (INIS)

    Wichoff, A.; Perez-Candela, V.; Romera, C.; Lopez-Morales, L.

    2002-01-01

    Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of newborn airway obstruction. It can be clinically indistinguishable from choanal atresia, which is much more frequent. CT confirms the diagnosis by revealing in detail the anatomical alterations underlying this anomaly. These might or might not occur in association with other alterations. We present 4 cases of CNPAS, all of which presented respiratory distress and clinical symptoms similar to those of choanal atresia in newborn children. The premature diagnosis and a conventional treatment of tube placement in order to keep the airway open, until the pyriform aperture grows large enough to permit normal breathing, resulted in recovery of the patients. (Author) 12 refs

  5. Cystic thymic diseases: CT manifestations

    Energy Technology Data Exchange (ETDEWEB)

    Song, Soon Young; Choi, Yo Won; Jeon, Eui Yong; Jeon, Seok Chol; Seo, Heung Suk; Hahm, Chang Kok [School of Medicine, Hanyang University, Seoul (Korea, Republic of)

    1995-09-15

    To describe CT findings and differential points of cystic thymic lesions. We evaluated retrospectively total 19 masses with well marginated cystic lesions at thymic area on CT scans. They were 10 teratomas, 3 congenital thymic cysts, 2 multilocular thymic cysts(associated with thymoma and myasthenia gravis in each), 2 cysts Assciated with thymic Hodgkin's lymphomas an ectopic parathyroid cyst, and an infected thymic cyst. The radiological abnormalities evaluated were thickness of the wall, presence or abscene of septa, mural nodule, solid component, calcification and fat component. All three cases of congenital thymic cysts and an ectopic parathyroid cyst appeared as thin-walled unilocular cyst with homogeneous internal density and without identifiable solid component. In multilocular thymic cyst, there were thick wall and solid components(n =2), thick internal septa and calcifications(n = 1). The cysts of teratomas manifested thick walls(n = 9), internal septa(n = 4), calcifications(n = 6), fat components(n = 4), and solid components(n = 4). Cysts in Hodgkin's diseases appeared as multilocular or unilocular and had thick wall and septa without calcification. Infected thymic cyst presented with multilocular cystic mass with identifiable wall and septa, calcification, and solid components. The thymic diseases with cystic lesion include teratomas, congenital thymic cysts, multilocular thymic cysts, parathyroid cyst, and Hodgkin's disease. Congenital thymic cyst and ectopic parathyroid cyst are thin-walled unilocular cystic lesions. Cystic lesions associated with teratoma, Hodgkin's disease, and multilocular thymic cyst are thick-walled cystic lesions with or without solid component.

  6. Malformação congénita das vias aéreas pulmonares: Experiência de cinco centros Congenital cystic adenomatoid malformation of the lung: The experience of five medical centres

    Directory of Open Access Journals (Sweden)

    Gustavo Rocha

    2007-07-01

    lesão assintomática é controverso; a cirurgia está indicada devido à baixa morbilidade e possibilidade de prevenção de complicações tardias, como a degenerescência maligna.Background: The clinical spectrum of congenital cystic adenomatoid malformation of the lung (CCAML ranges from asymptomatic lesions to neonatal respiratory distress and hydrops fetalis. Aim: To review our experience with CCAML, emphasising natural history, management and outcome. Material and methods: A retrospective chart review of all CCAML-diagnosed neonates admitted to the neonatal intensive care units of five tertiary medical centres in the north of Portugal between 1996 and 2005. Results: Fifteen neonates with CCAML were identified, 9F/6M, birth weight 3100 g (645-3975, gestational age 38 weeks (24-40. The incidence of CCAML was 1: 9300 births. There were 11 (73% cases of cystic lung lesion diagnosed during pregnancy, median age 22 weeks (19-30. The lesion was right sided in six (40% and left sided in nine (60% cases. In utero spontaneous regression of the lesion was observed in two cases. Antenatal intervention (pleurocentesis and thoracoamniotic shunting was performed in one foetus with impending hydrops. Normal lung radiographic findings at birth were present in five cases, with an abnormal CT scan. Three (20% neonates became symptomatic during the neonatal period (respiratory distress and one (70% after the neonatal period (spontaneous pneumothorax. Two neonates (13% died. Six (40% patients underwent thoracotomy and appropriate excisional surgery. Histological examination showed definitive features of CCAML (Stocker classification: type I = 4; type II = 1; type III = 2. Eight (53% patients remain asymptomatic and did not undergo surgery. Conclusions: Antenatally diagnosed CCAML has a good prognosis in the absence of severe foetal distress; normal radiographic findings at birth do not rule out CCAML; treatment of asymptomatic CCAML is controversial; surgery may be advocated

  7. Neonatal congenital lung tumors - the importance of mid-second-trimester ultrasound as a diagnostic clue

    International Nuclear Information System (INIS)

    Waelti, Stephan L.; Garel, Laurent; Rypens, Francoise; Dubois, Josee; Dal Soglio, Dorothee; Messerli, Michael

    2017-01-01

    The differential diagnosis for primary lung masses in neonates includes a variety of developmental abnormalities; it also consists of the much rarer congenital primary lung tumors: cystic pleuropulmonary blastoma (cystic PPB), fetal lung interstitial tumor (FLIT), congenital peribronchial myofibroblastic tumor (CPMT), and congenital fibrosarcoma. Radiologic differentiation between malformations and tumors is often very challenging. The objective was to establish distinctive features between developmental pulmonary abnormalities and primary lung tumors. We conducted a retrospective study of 135 congenital lung lesions at a university mother and child center over a period of 10 years (2005-2015). During this time, we noted four tumors (two cystic PPBs and two FLITs) and 131 malformations. We recorded the following parameters: timing of conspicuity in utero (mid-second trimester, third trimester, or not seen prenatally), presence of symptoms at birth, prenatal and perinatal radiologic findings, and either histological diagnoses by pathology or follow-up imaging in non-operated cases. All lesions except the four tumors were detected during mid-second-trimester ultrasound. In none of the tumors was any pulmonary abnormality found on the mid-second-trimester sonogram, contrary to the developmental pulmonary abnormalities. The timing of conspicuity in utero appears to be a key feature for the differentiation between malformations and tumors. Lesions that were not visible at the mid-second-trimester ultrasound should be considered as tumor. A cystic lung lesion in the context of a normal mid-second-trimester ultrasound is highly suggestive of a cystic PPB. Differentiating the types of solid congenital lung tumors based upon imaging features is not yet feasible. (orig.)

  8. Neonatal congenital lung tumors - the importance of mid-second-trimester ultrasound as a diagnostic clue

    Energy Technology Data Exchange (ETDEWEB)

    Waelti, Stephan L.; Garel, Laurent; Rypens, Francoise; Dubois, Josee [University of Montreal, Department of Medical Imaging, Sainte-Justine Hospital, Quebec (Canada); Dal Soglio, Dorothee [University of Montreal, Department of Pathology, Sainte-Justine Hospital, Quebec (Canada); Messerli, Michael [University Hospital Zurich, University of Zurich, Department of Nuclear Medicine, Zurich (Switzerland)

    2017-12-15

    The differential diagnosis for primary lung masses in neonates includes a variety of developmental abnormalities; it also consists of the much rarer congenital primary lung tumors: cystic pleuropulmonary blastoma (cystic PPB), fetal lung interstitial tumor (FLIT), congenital peribronchial myofibroblastic tumor (CPMT), and congenital fibrosarcoma. Radiologic differentiation between malformations and tumors is often very challenging. The objective was to establish distinctive features between developmental pulmonary abnormalities and primary lung tumors. We conducted a retrospective study of 135 congenital lung lesions at a university mother and child center over a period of 10 years (2005-2015). During this time, we noted four tumors (two cystic PPBs and two FLITs) and 131 malformations. We recorded the following parameters: timing of conspicuity in utero (mid-second trimester, third trimester, or not seen prenatally), presence of symptoms at birth, prenatal and perinatal radiologic findings, and either histological diagnoses by pathology or follow-up imaging in non-operated cases. All lesions except the four tumors were detected during mid-second-trimester ultrasound. In none of the tumors was any pulmonary abnormality found on the mid-second-trimester sonogram, contrary to the developmental pulmonary abnormalities. The timing of conspicuity in utero appears to be a key feature for the differentiation between malformations and tumors. Lesions that were not visible at the mid-second-trimester ultrasound should be considered as tumor. A cystic lung lesion in the context of a normal mid-second-trimester ultrasound is highly suggestive of a cystic PPB. Differentiating the types of solid congenital lung tumors based upon imaging features is not yet feasible. (orig.)

  9. Cystic medulloblastoma

    International Nuclear Information System (INIS)

    Mahapatra, A.K.; Paul, H.K.; Sarkar, C.

    1989-01-01

    In children medulloblastoma is a commonly encountered posterior fossa midline tumour in which cystic degeneration is not uncommon. A cystic medulloblastoma without solid component has, however, not been described. We report a 12-year-old boy with a posterior fossa midline cystic lesion on CT with surgical and histological confirmation of the diagnosis. (orig.)

  10. A huge cystic craniopharyngioma

    International Nuclear Information System (INIS)

    Takamura, Seishi; Fukumura, Akinobu; Ito, Yoshihiro; Itoyama, Yoichi; Matsukado, Yasuhiko.

    1986-01-01

    The findings of computed tomography (CT) of a huge cystic craniopharyngioma in a 57-year-old woman are described. Cyst density varied from low to high levels in a short duration. Follow-up CT scans were regarded as important to diagnose craniopharyngioma. The mechanism of increment of cyst density was discussed. (author)

  11. Diagnostic performance of fluorine-18-dihydroxyphenylalanine positron emission tomography in diagnosing and localizing the focal form of congenital hyperinsulinism: a meta-analysis.

    Science.gov (United States)

    Treglia, Giorgio; Mirk, Paoletta; Giordano, Alessandro; Rufini, Vittoria

    2012-11-01

    We performed a meta-analysis on published data on the diagnostic performance of fluorine-18 dihydroxyphenylalanine ((18)F-DOPA) positron emission tomography (PET) in diagnosing and localizing focal congenital hyperinsulinism (CHI). A comprehensive computer literature search of studies published up to 31 January 2012 regarding (18)F-DOPA PET or PET/CT in patients with CHI was performed. Pooled sensitivity and specificity, area under the ROC curve and diagnostic odds ratio (DOR) of (18)F-DOPA PET or PET/CT in diagnosing focal CHI were calculated. The localization accuracy of focal CHI was also estimated. Seven studies comprising 195 CHI patients were included. The pooled sensitivity and specificity of (18)F-DOPA PET or PET/CT in differentiating between focal and diffuse CHI were 89% (95% confidence interval [CI]:81-95%) and 98% (95% CI:89-100%), respectively. The DOR was 74.5 (95% CI:18-307). The area under the ROC curve was 0.95. The pooled accuracy of these functional imaging methods in localizing focal CHI was 80% (95% CI:71-88%). In CHI patients, (18)F-DOPA PET or PET/CT demonstrated high sensitivity and specificity in differentiating between focal and diffuse CHI. (18)F-DOPA PET or PET/CT are accurate methods of localizing focal CHI. Nevertheless, possible sources of false-negative results for focal CHI should be kept in mind.

  12. Lung Ultrasound Findings in Congenital Pulmonary Airway Malformation.

    Science.gov (United States)

    Yousef, Nadya; Mokhtari, Mostafa; Durand, Philippe; Raimondi, Francesco; Migliaro, Fiorella; Letourneau, Alexandra; Tissières, Pierre; De Luca, Daniele

    2018-05-01

    Congenital pulmonary airway malformation (CPAM) is a group of rare congenital malformations of the lung and airways. Lung ultrasound (LU) is increasingly used to diagnose neonatal respiratory diseases since it is quick, easy to learn, and radiation-free, but no formal data exist for congenital lung malformations. We aimed to describe LU findings in CPAM neonates needing neonatal intensive care unit (NICU) admission and to compare them with a control population.  A retrospective review of CPAM cases from three tertiary academic NICUs over 3 years (2014-2016) identified five patients with CPAM who had undergone LU examination. LU was compared with chest radiograms and computed tomography (CT) scans that were used as references.  CPAM lesions were easily identified and corresponded well with CT scans; they varied from a single large cystic lesion, multiple hypoechoic lesions, and/or consolidation. The first two LU findings have not been described in other respiratory conditions and were not found in controls.  We provide the first description of LU findings in neonates with CPAM. LU may be used to confirm antenatally diagnosed CPAM and to suspect CPAM in infants with respiratory distress if cystic lung lesions are revealed. Further studies are necessary to define the place of LU in the management of CPAM. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  13. A Case of Bilateral Testicular Tumors Subsequently Diagnosed as Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

    Directory of Open Access Journals (Sweden)

    Yan-Kun Sha

    2016-12-01

    Full Text Available 21-hydroxylase deficiency (21-OHD caused congenital adrenal hyperplasia (CAH is a group of autosomal recessive genetic disorders resulting from mutations in genes involved with cortisol (CO synthesis in the adrenal glands. Testicular adrenal rest tumors (TARTs are rarely the presenting symptoms of CAH. Here, we describe a case of simple virilizing CAH with TARTs, in a 15-year-old boy. The patient showed physical signs of precocious puberty. The levels of blood adrenocorticotropic hormone (ACTH, urinary 17-ketone steroids (17-KS, dehydroepiandrosterone sulfate (DHEA-S, and serum progesterone (PRGE were elevated, whereas those of follicle-stimulating hormone (FSH, luteinizing hormone (LH, and CO were reduced. Computed tomography (CT of the adrenal glands and magnetic resonance imaging (MRI of the testes showed a soft tissue density (more pronounced on the right side and an irregularly swollen mass (more pronounced on the left side, respectively. Pathological examination of a specimen of the mass indicated polygonal/circular eosinophilic cytoplasm, cord-like arrangement of interstitial cells, and lipid pigment in the cytoplasm. Immunohistochemistry results precluded a diagnosis of Leydig cell tumors. DNA sequencing revealed a hackneyed homozygous mutation, I2g, on intron 2 of the CYP21A2 gene. The patient’s symptoms improved after a three-month of dexamethasone therapy. Recent radiographic data showed reduced hyperplastic adrenal nodules and testicular tumors. A diagnosis of TART should be considered and prioritized in CAH patients with testicular tumors. Replacement therapy using a sufficient amount of dexamethasone in this case helps combat TART.

  14. Cystic pancreatic lymphangioma

    Directory of Open Access Journals (Sweden)

    Alihan Gurkan

    2012-04-01

    Full Text Available Lymphangioma of the pancreas is a rare benign tumor of lymphatic origin. Retroperitoneal lymphangiomas account for 1% of all lymphangiomas. Herein, we report a case of cystic pancreatic lymphangioma diagnosed in 34 year-old female patient who was hospitalized for a slight pain in the epigastrium and vomiting. Radiological imaging revealed a large multiloculated cystic abdominal mass with enhancing septations involving the upper retroperitoneum. During the laparoscopic surgery, a well circumscribed polycystic tumor was completely excised preserving the pancreatic duct. The patient made a complete recovery and is disease-free 12 months postoperatively.

  15. Risk factors for morbidity and death in non-cystic fibrosis bronchiectasis: a retrospective cross-sectional analysis of CT diagnosed bronchiectatic patients

    Directory of Open Access Journals (Sweden)

    Goeminne Pieter

    2012-03-01

    Full Text Available Abstract Introduction There is a relative lack of information about the death rate and morbidity of non-cystic fibrosis bronchiectasis and most studies are limited due to referral bias. We wanted to assess death rate and morbidity in those patients at our hospital. Methods Adult patients seen at our department between June 2006 and November 2009 were recruited if the key string "bronchiect-" was mentioned in electronic clinical records and if chest CT imaging was available. Clinical records of all patients with confirmed radiologic diagnosis of bronchiectasis were reviewed and clinical characteristics were analyzed. Results 539 patients with a radiographic diagnosis of non-cystic fibrosis bronchiectasis were identified in a retrospective cross-sectional analysis giving a prevalence of 2.6% in our hospital population. A wide range of etiologies was found with idiopathic bronchiectasis in 26%. In the 41 months interval, 57 patients (10.6% died. We found a median exacerbation rate of 1.94 per year. Bacterial colonization status was associated with more deaths, exacerbation rate, symptoms and reduced pulmonary function. Pulmonary hypertension was found in 48% of our patients. Conclusions We evaluated a large non-cystic fibrosis bronchiectasis population, and provided new epidemiological data on associations between clinical characteristics and deaths and morbidity in these patients.

  16. Congenital giant megaureter associated with ipsilateral multicystic dysplastic kidney in newborn

    Directory of Open Access Journals (Sweden)

    Rajendran Ramaswamy

    2016-01-01

    Full Text Available Congenital giant megaureter presents as abdominal mass and impose diagnostic difficulties. It can be associated with other upper urinary tract anomalies. A female newborn with antenatal diagnosis of polycystic kidneys was admitted at birth due to lower abdominal mass. Ultrasound and CT scans diagnosed a multiloculated cystic lesion in the mid and lower abdomen along with right side multicystic kidney. At laparotomy, an extaperitoneal, lobulated cystic swelling was found due to rightside giant megaureter. Its lower end was of normal caliber and orthotopic. End cutaneous ureterostomy was done. Intravenous urogram and isotope renograms showed nonfunctioning right kidney. She also had grade II vesicoureteral reflux on left side. Child suffered urinary infection twice. At 9m age, right nephroureterectomy was done. Histopathologic examination was consistent with cystic renal dysplasia and dilated ureter. This is the first case report of giant megaureter associated with ipsilateral multicystic dysplastic kidney in newborn.

  17. Health-Related Quality of Life, Mental Health and Psychotherapeutic Considerations for Women Diagnosed with a Disorder of Sexual Development: Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    Lindsey M. Brooks

    2010-01-01

    Full Text Available Little is known about the long-term health-related quality of life (HRQL and mental health outcomes for women diagnosed with congenital adrenal hyperplasia (CAH, a disorder of sex development. Though recommendations for therapists exist, no research has empirically investigated women's experiences in therapy or their recommendations for therapy. Thus the purpose of the study was to investigate HRQL, mental health concerns of women with CAH, and patients' recommendations for therapists. A qualitative methodology, consensual qualitative research, was used to answer these questions. Eight women with CAH participated in the study. Results from their interviews revealed six domains: physical functioning, psychological functioning, interpersonal processes and relationships, healthcare experiences of women with CAH, recommendations for health care professionals, and systemic considerations. Domains were further broken down into categories with results yielding implications for both medical and mental health professionals and shedding light on issues related to normalcy, concerns both related and unrelated to CAH, sex, and gender, and highlighting effective supports and therapeutic interventions.

  18. Health-Related Quality of Life, Mental Health and Psychotherapeutic Considerations for Women Diagnosed with a Disorder of Sexual Development: Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    Franco Jill

    2010-06-01

    Full Text Available Little is known about the long-term health-related quality of life (HRQL and mental health outcomes for women diagnosed with congenital adrenal hyperplasia (CAH, a disorder of sex development. Though recommendations for therapists exist, no research has empirically investigated women's experiences in therapy or their recommendations for therapy. Thus the purpose of the study was to investigate HRQL, mental health concerns of women with CAH, and patients' recommendations for therapists. A qualitative methodology, consensual qualitative research, was used to answer these questions. Eight women with CAH participated in the study. Results from their interviews revealed six domains: physical functioning, psychological functioning, interpersonal processes and relationships, healthcare experiences of women with CAH, recommendations for health care professionals, and systemic considerations. Domains were further broken down into categories with results yielding implications for both medical and mental health professionals and shedding light on issues related to normalcy, concerns both related and unrelated to CAH, sex, and gender, and highlighting effective supports and therapeutic interventions.

  19. Prenatal diagnosis of congenital ranula: Case Report

    Directory of Open Access Journals (Sweden)

    Aytül Çorbacıoğlu Esmer

    2013-12-01

    Full Text Available Congenital ranula is a mucous retention cyst which originates from the base of the oral cavity and is caused by sublingual or submandibular canal atresia or canalization defect. As with the other tumors in the oral cavity it may cause upper airway obstruction and hypoxia immediately after delivery. In the following stages of life, apart from the respiratory problems it may cause speach, chewing and swallowing disorders. The prenatal diagnosis of congenital sublingual ranula is very rare, and it presents as an avascular and anechoic cystic mass displacing the tongue upwards on fetal ultrasonography. Polyhydramnios can develop due to the obstruction and stomach may not be visualized. The differential diagnosis includes lymphatic malformations, epulis, epignatus, tyroglossal canal cyst and hemangioma. In this paper, we present a case of ranula which was diagnosed during prenatal ultrasonographic examination. The detailed fetal ultrasound scan performed at the 31th week of gestation revealed a non-septated anechoic cyst in the oral cavity measuring 20 x 17 x 15 mm. The cyst had well-defined regular borders with no solid component. Doppler ultrasonograhy did not show any vascularization within the cyst. After the delivery at the 38th week of gestation, a sublingual cystic mass with regular borders measuring 1.5 x1.5 cm was detected in the mouth of the neonate. Entubation was not required due to the absence of respiratory distress. In order to prevent difficutlies in feeding, the cystic mass was aspirated just after the delivery. A diagnosis of sublingual ranula was made based on the localization and the mucoid consistency of the cyst.

  20. Congenital orbital teratoma.

    Science.gov (United States)

    Aiyub, Shereen; Chan, Wengonn; Szetu, John; Sullivan, Laurence J; Pater, John; Cooper, Peter; Selva, Dinesh

    2013-12-01

    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.

  1. 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.

  2. Diagnosing congenital malaria in a high-transmission setting: clinical relevance and usefulness of P.falciparum HRP2-based testing

    NARCIS (Netherlands)

    Natama, Hamtandi Magloire; Ouedraogo, Delwendé Florence; Sorgho, Hermann; Rovira-Vallbona, Eduard; Serra-Casas, Elisa; Somé, M. Athanase; Coulibaly-Traoré, Maminata; Mens, Petra F.; Kestens, Luc; Tinto, Halidou; Rosanas-Urgell, Anna

    2017-01-01

    Congenital malaria diagnosis is challenging due to frequently observed low parasite density infections, while their clinical relevance during early infancy is not well characterized. In Nanoro health district (Burkina Faso), we determined the prevalence of congenital malaria by real-time

  3. Giant cystic abdominal masses in children

    International Nuclear Information System (INIS)

    Wootton-Gorges, Sandra L.; Thomas, Kristen B.; Harned, Roger K.; Wu, Sarah R.; Stein-Wexler, Rebecca; Strain, John D.

    2005-01-01

    In this pictorial essay the common and uncommon causes of large cystic and cyst-like abdominal masses in children are reviewed. We discuss and illustrate the following: mesenchymal hamartoma, choledochal cyst, hydrops of the gallbladder, congenital splenic cyst, pancreatic pseudocyst, pancreatic cystadenoma, hydronephrosis, multicystic dysplastic kidney, multilocular cystic nephroma, adrenal hemorrhage, mesenteric and omental cysts, gastrointestinal duplication cyst, meconium pseudocyst, ovarian cysts and cystic neoplasms, hematocolpos, urachal cysts, appendiceal abscess, abdominal and sacrococcygeal teratoma, and CSF pseudocyst. We also describe imaging features and clues to the diagnosis. (orig.)

  4. Giant cystic abdominal masses in children

    Energy Technology Data Exchange (ETDEWEB)

    Wootton-Gorges, Sandra L.; Thomas, Kristen B.; Harned, Roger K.; Wu, Sarah R.; Stein-Wexler, Rebecca; Strain, John D. [University of California, Davis Health Center, Sacramento, CA (United States); Davis Children' s Hospital, Department of Radiology, Sacramento, CA (United States)

    2005-12-01

    In this pictorial essay the common and uncommon causes of large cystic and cyst-like abdominal masses in children are reviewed. We discuss and illustrate the following: mesenchymal hamartoma, choledochal cyst, hydrops of the gallbladder, congenital splenic cyst, pancreatic pseudocyst, pancreatic cystadenoma, hydronephrosis, multicystic dysplastic kidney, multilocular cystic nephroma, adrenal hemorrhage, mesenteric and omental cysts, gastrointestinal duplication cyst, meconium pseudocyst, ovarian cysts and cystic neoplasms, hematocolpos, urachal cysts, appendiceal abscess, abdominal and sacrococcygeal teratoma, and CSF pseudocyst. We also describe imaging features and clues to the diagnosis. (orig.)

  5. Amino-Terminal proB-Type Natriuretic Peptide Levels in the Umbilical Cord Blood of Neonates Differ According to the Type of Prenatally Diagnosed Congenital Heart Disease.

    Science.gov (United States)

    Bae, Jin Young; Cha, Hyun-Hwa; Seong, Won Joon

    2015-12-01

    The aim of this study was to investigate differences in amino-terminal proB-type natriuretic peptide (NT-proBNP) levels in the cord blood of neonates according to the type of congenital heart disease (CHD) and to evaluate the usefulness of NT-proBNP as a prognostic marker. We included 76 neonates with prenatally diagnosed CHD and 45 controls without CHD. Neonates were classified into five groups based on echocardiographic findings. The levels of NT-proBNP in the cord blood were examined and analyzed according to the neonatal outcomes. The levels of NT-proBNP were significantly elevated in the cord blood of neonates with CHD compared with that in the cord blood of controls. The levels of NT-proBNP in the group with right ventricular outflow tract obstruction without a ventricular septal defect were significantly increased compared to that in the other groups. The neonates that required acute surgical correction had higher levels of NT-proBNP in the cord blood, though they were not statistically significant. Meanwhile, NT-proBNP levels in the cord blood of neonates with functional single ventricle were significantly higher than that in the cord blood of those with functional biventricles. Significant differences in the levels of NT-proBNP between survivors and nonsurvivors were observed within 1 year of birth. In this study, we found that the levels of NT-proBNP in the cord blood of neonates with CHD were higher than the levels in controls. This finding was striking in the group with right ventricular outflow tract obstruction, and it was associated with surgery for functional single ventricle and 1-year survival.

  6. Ultrasonographic Findings of Fetal Congenital Intracranial Teratoma

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Hak Jong [Seoul National University College of Medicine, Seoul (Korea, Republic of); Lee, Young Ho; Song, Mi Jin; Cho, Jeong Yeon; Min, Jee Yeon; Moon, Min Hwan; Kim, Jeong Ah [Seoul National University Bundang Hospital, Seongnam (Korea, Republic of)

    2005-06-15

    To evaluate the sonographic findings of fetal congenital intracranial teratoma. From 1994 to 2002, of the 11 fetuses which had been diagnosed with fetal intracranial tumors after second level fetal ultrasonography, the six that were confirmed after autopsy as congenital intracranial teratomas were included in our study. The sonographic findings, including size, homogeneity, echogenicity compared with surrounding normal brain tissues, cystic components, and tumor related calcification, were retrospectively evaluated. The incidence of fetal congenital intracranial teratoma out of all fetal intracranial tumors was 54.5% (6 of 11 cases) during the 8-year period. The mean mass size was 7.4 cm (3.0-15.0 cm). Two thirds of (4/6) of the teratoma cases showed high echogenicity compared with normal brain tissues, and two thirds (4/6) showed heterogeneous echogenicity. Four teratoma cases (67%) showed cysts in the mass with a mean size of 1.9cm. One third (2/6) showed calcifications within the tumor. Out of the six cases, two had oropharyngeal teratoma with extension into the intracranial portion (so called epignathus) and showed homogenous mass without any cysts or calcifications. The typical sonographic appearance of intracranial teratoma was a heterogeneous, hyperechoic mass with cysts. In the epignathus cases, the sonographic appearances differed somewhat from the others. An understanding of the sonographic findings of fetal intracranial teratoma will help in the timely counseling of the parents and in obstetric decision making

  7. MR imaging appearance of laryngeal atresia (congenital high airway obstruction syndrome): unique course in a fetus

    Energy Technology Data Exchange (ETDEWEB)

    Kuwashima, Shigeko; Kitajima, Kazuhiro; Kaji, Yasushi [Dokkyo Medical University, Department of Radiology, Mibu, Shimotsuga-gun, Tochigi (Japan); Watanabe, Hiroshi [Dokkyo Medical University, Department of Obstetrics and Gynecology, Mibu (Japan); Watabe, Yoshiyuki; Suzumura, Hiroshi [Dokkyo Medical University, Department of Pediatrics, Mibu (Japan)

    2008-03-15

    Congenital high airway obstruction syndrome (CHAOS) is a rare life-threatening syndrome. Most cases are diagnosed prenatally by US. We report a fetus with this syndrome that showed a unique course revealed on MRI. Ultrasonography at 22 weeks demonstrated that the fetus had ascites and bilaterally enlarged hyperechoic lungs. Congenital infection, congenital cystic adenomatoid malformation or CHAOS was suspected. Subsequent MRI performed at 24 weeks demonstrated bilaterally enlarged high-signal lungs, dilated bronchi, massive ascites, subcutaneous oedema and polyhydramnios. MRI confirmed the diagnosis of CHAOS. A second MRI at 35 weeks showed that the bilateral lung enlargement, ascites, oedema and polyhydramnios had resolved, but that the appearance of the airway was unchanged. The infant was delivered by caesarean section at 38 weeks of gestation and immediate tracheostomy was performed. This spontaneous regression was explained by a tracheo-oesophageal fistula that may have decreased the intrathoracic pressure. (orig.)

  8. MR imaging appearance of laryngeal atresia (congenital high airway obstruction syndrome): unique course in a fetus

    International Nuclear Information System (INIS)

    Kuwashima, Shigeko; Kitajima, Kazuhiro; Kaji, Yasushi; Watanabe, Hiroshi; Watabe, Yoshiyuki; Suzumura, Hiroshi

    2008-01-01

    Congenital high airway obstruction syndrome (CHAOS) is a rare life-threatening syndrome. Most cases are diagnosed prenatally by US. We report a fetus with this syndrome that showed a unique course revealed on MRI. Ultrasonography at 22 weeks demonstrated that the fetus had ascites and bilaterally enlarged hyperechoic lungs. Congenital infection, congenital cystic adenomatoid malformation or CHAOS was suspected. Subsequent MRI performed at 24 weeks demonstrated bilaterally enlarged high-signal lungs, dilated bronchi, massive ascites, subcutaneous oedema and polyhydramnios. MRI confirmed the diagnosis of CHAOS. A second MRI at 35 weeks showed that the bilateral lung enlargement, ascites, oedema and polyhydramnios had resolved, but that the appearance of the airway was unchanged. The infant was delivered by caesarean section at 38 weeks of gestation and immediate tracheostomy was performed. This spontaneous regression was explained by a tracheo-oesophageal fistula that may have decreased the intrathoracic pressure. (orig.)

  9. Prevalence and Risk Factors for Human Cystic Echinococcosis in the Cusco Region of the Peruvian Highlands Diagnosed Using Focused Abdominal Ultrasound.

    Science.gov (United States)

    Tamarozzi, Francesca; Hou, Amy; Morales, Maria Luisa; Giordani, Maria Teresa; Vilca, Freddy; Mozo, Karen; Bascope, Ruben; White, A Clinton; Brunetti, Enrico; Chen, Lin; Cabada, Miguel M

    2017-06-01

    AbstractLatin America is among the highly endemic regions for cystic echinococcosis (CE). In Peru, an estimated 1,139 disability-adjusted life years are lost annually from surgical treatment of CE. This is comparable with the combined total for Argentina, Brazil, Uruguay, and Chile. The prevalence of human infection has been investigated in the central Peruvian Andes, but there are no community-based screening data from other regions of Peru. We carried out a population survey in January 2015 using abdominal ultrasound to estimate the prevalence of abdominal CE in the Canas and Canchis provinces, in the Cusco region of Peru. Among 1,351 subjects screened, 41 (3%) had CE. There was significant variation between communities with similar socioeconomic features in a small geographical area. A history of CE was reported by 4.1% of the screened subjects, among whom 30.3% still had CE on ultrasound. Among patients reporting previous CE treatment, 14.9% had CE in active stages. Limited education, community of residence, and knowing people with CE in the community were associated with CE. These results demonstrate a significant burden of CE in the region and suggest the need for further investigations, control activities, and optimization of clinical management for CE in this area.

  10. Cascade carrier testing after a child is diagnosed with cystic fibrosis through newborn screening: investigating why most relatives do not have testing.

    Science.gov (United States)

    McClaren, Belinda J; Aitken, Maryanne; Massie, John; Amor, David; Ukoumunne, Obioha C; Metcalfe, Sylvia A

    2013-07-01

    Newborn screening for cystic fibrosis is increasingly available, but cascade testing following the diagnosis in a child has received little attention. We previously reported low levels of cascade testing over time, and this study investigated motivators as well as barriers to testing. Parents were interviewed about communicating the genetic information and also asked to recruit their relatives to receive a specifically developed questionnaire. Thirty parents were interviewed and addresses of 284 relatives were provided; completed questionnaires were received from 225 (79%). A relative's relationship to the child, as well as knowledge, is associated with having had carrier testing. Relatives' reasons for testing included curiosity and wanting information for other relatives and for reproductive planning. Reasons for not testing were perceived irrelevance, lacking awareness, and viewing it as something to do in the future. Parents communicated the genetic information to relatives in various ways, which contributed to whether relatives accessed carrier testing. Newborn screening programs should provide support to parents to aid communication of genetic information to relatives. (Ir)relevance of testing is often linked to life stage; ongoing support and communication may allow relatives to learn of their risk and then seek testing, if they wish, at a time perceived to be most relevant to them.

  11. Cytomegalovirus Congenital Cataract

    Directory of Open Access Journals (Sweden)

    Ridha Wahyutomo

    2011-06-01

    Full Text Available Cytomegalovirus congenital infection is an infection caused by the the subfamily â Herpesviridae, during pregnancy. The incidence of infections among newborn infants is 1 %. One of the effects of congenitally acquired infection is the congenital cataract. A 6-year-old child complained to have a blurred vision diagnosed with cytomegalovirus congenital cataract. The diagnosis was confirmed by a positive serology testing for Ig M and Ig G CMV. The laboratory test using Giemsa staining to find inclusion bodies and a faster PCR could not be carried out (Sains Medika, 3(1:84-88.

  12. Tumor disease and associated congenital abnormalities on prenatal MRI

    International Nuclear Information System (INIS)

    Nemec, Stefan F.; Horcher, Ernst; Kasprian, Gregor; Brugger, Peter C.; Bettelheim, Dieter; Amann, Gabriele; Nemec, Ursula; Rotmensch, Siegfried; Rimoin, David L.; Graham, John M. Jr.; Prayer, Daniela

    2012-01-01

    Objective: Fetal tumors can have a devastating effect on the fetus, and may occur in association with congenital malformations. In view of the increasing role of fetal magnetic resonance imaging (MRI) as an adjunct to prenatal ultrasonography (US), we sought to demonstrate the visualization of fetal tumors, with regard to congenital abnormalities, on MRI. Materials and methods: This retrospective study included 18 fetuses with tumors depicted on fetal MRI after suspicious US findings. An MRI standard protocol was used to diagnose tumors judged as benign or malignant. All organ systems were assessed for tumor-related complications and other congenital malformations. Available US results and histopathology were compared with MRI. Results: There were 13/18 (72.2%) benign and 5/18 (27.8%) malignant tumors diagnosed: a cerebral primitive neuroectodermal tumor in 1/18, head–neck teratomas in 4/18; ventricular rhabdomyomas in 4/18; a cardiac teratoma in 1/18; a hepatoblastoma in 1/18; neuroblastomas in 2/18; a cystic hemorrhagic adrenal hyperplasia in 1/18; a pelvic leiomyoma in 1/18; sacrococcygeal teratomas in 3/18. Tumor-related complications were present in 13/18 (72.2%) cases; other congenital abnormalities in 3/18 (16.7%). MRI diagnosis and histology were concordant in 8/11 (72.7%) cases. In 6/12 (50%) cases, US and MRI diagnoses were concordant, and, in 6/12 (50%) cases, additional MRI findings changed the US diagnosis. Conclusion: Our MRI results demonstrate the visualization of fetal tumors, with frequently encountered tumor-related complications, and other exceptional congenital abnormalities, which may provide important information for perinatal management. Compared to prenatal US, MRI may add important findings in certain cases.

  13. Tumor disease and associated congenital abnormalities on prenatal MRI.

    Science.gov (United States)

    Nemec, Stefan F; Horcher, Ernst; Kasprian, Gregor; Brugger, Peter C; Bettelheim, Dieter; Amann, Gabriele; Nemec, Ursula; Rotmensch, Siegfried; Rimoin, David L; Graham, John M; Prayer, Daniela

    2012-02-01

    Fetal tumors can have a devastating effect on the fetus, and may occur in association with congenital malformations. In view of the increasing role of fetal magnetic resonance imaging (MRI) as an adjunct to prenatal ultrasonography (US), we sought to demonstrate the visualization of fetal tumors, with regard to congenital abnormalities, on MRI. This retrospective study included 18 fetuses with tumors depicted on fetal MRI after suspicious US findings. An MRI standard protocol was used to diagnose tumors judged as benign or malignant. All organ systems were assessed for tumor-related complications and other congenital malformations. Available US results and histopathology were compared with MRI. There were 13/18 (72.2%) benign and 5/18 (27.8%) malignant tumors diagnosed: a cerebral primitive neuroectodermal tumor in 1/18, head-neck teratomas in 4/18; ventricular rhabdomyomas in 4/18; a cardiac teratoma in 1/18; a hepatoblastoma in 1/18; neuroblastomas in 2/18; a cystic hemorrhagic adrenal hyperplasia in 1/18; a pelvic leiomyoma in 1/18; sacrococcygeal teratomas in 3/18. Tumor-related complications were present in 13/18 (72.2%) cases; other congenital abnormalities in 3/18 (16.7%). MRI diagnosis and histology were concordant in 8/11 (72.7%) cases. In 6/12 (50%) cases, US and MRI diagnoses were concordant, and, in 6/12 (50%) cases, additional MRI findings changed the US diagnosis. Our MRI results demonstrate the visualization of fetal tumors, with frequently encountered tumor-related complications, and other exceptional congenital abnormalities, which may provide important information for perinatal management. Compared to prenatal US, MRI may add important findings in certain cases. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  14. Congenital urethrovaginal fistula associated with imperforate hymen causing fetal urinary ascites and abdominal cystic lesions: A case report and literature review

    Directory of Open Access Journals (Sweden)

    Koichi Ohno

    2015-02-01

    Full Text Available A primipara presented to our hospital due to fetal ascites, bilateral hydronephrosis and hydrometrocolpos. The female baby had two giant abdominal cysts, a single atrium and foot polydactyly. Absence of the vaginal orifice was noticed, and the hymen was broken through; the left cyst collapsed after fluid drainage. The right cyst was punctured and drained, which improved the hydronephrosis. Contrast imaging showed medium pouring into the abdominal cavity via the uterine tube; the right cyst was a 6 × 5 cm closed cavity. Vaginal uroplania persisted even after hospital discharge. At the age of 4 years, cystoscopy showed a fistulous opening on the urethra 5 mm distal from the internal urethral orifice. A catheter inserted via the opening was found in the vagina. In our case, urine poured into the abdominal cavity through the fistula and uterine tube; following obstruction of the uterine tube, giant hydrometrocolpos and hydrosalpinx appeared. Three cases of congenital urethrovaginal fistula (CUVF with imperforate hymen have been reported. A remnant of communication between the uterovaginal primordium and urogenital sinus may be responsible for CUVF.

  15. Pulmonary sequestration with histologic changes of cystic adenomatoid malformation

    International Nuclear Information System (INIS)

    Morin, C.; Filiatrault, D.; Russo, P.

    1989-01-01

    Pulmonary sequestration and congenital cystic adenomatoid malformation (CCAM) are two infrequent congenital pulmonary diseases. The combination of these two entities is rare. We report a case where the antenatal ultrasonography showed a left pulmonary mass suggesting CCAM. The US done after birth revealed an aberrant vascularisation. Pathologic examination confirmed the association of both lesions. (orig.)

  16. Open resections for congenital lung malformations

    Directory of Open Access Journals (Sweden)

    Mullassery Dhanya

    2008-01-01

    Full Text Available Aim: Pediatric lung resection is a relatively uncommon procedure that is usually performed for congenital lesions. In recent years, thoracoscopic resection has become increasingly popular, particularly for small peripheral lesions. The aim of this study was to review our experience with traditional open lung resection in order to evaluate the existing "gold standard." Materials and Methods: We carried out a retrospective analysis of all children having lung resection for congenital lesions at our institution between 1997 and 2004. Data were collected from analysis of case notes, operative records and clinical consultation. The mean follow-up was 37.95 months. The data were analyzed using SPSS. Results: Forty-one children (13 F/28 M underwent major lung resections during the study period. Their median age was 4.66 months (1 day-9 years. The resected lesions included 21 congenital cystic adenomatoid malformations, 14 congenital lobar emphysema, four sequestrations and one bronchogenic cyst. Fifty percent of the lesions were diagnosed antenatally. Twenty-six patients had a complete lobectomy while 15 patients had parenchymal sparing resection of the lesion alone. Mean postoperative stay was 5.7 days. There have been no complications in any of the patients. All patients are currently alive, asymptomatic and well. None of the patients have any significant chest deformity. Conclusions: We conclude that open lung resection enables parenchymal sparing surgery, is versatile, has few complications and produces very good long-term results. It remains the "gold standard" against which minimally invasive techniques may be judged.

  17. Childhood abdominal cystic lymphangioma

    Energy Technology Data Exchange (ETDEWEB)

    Konen, Osnat; Rathaus, Valeria; Shapiro, Myra [Department of Diagnostic Imaging, Meir General Hospital, Sapir Medical Centre, Kfar Saba (Israel); Dlugy, Elena [Department of Paediatric Surgery, Schneider Medical Centre, Sackler School of Medicine, Tel-Aviv University (Israel); Freud, Enrique [Department of Paediatric Surgery, Sapir Medical Centre, Sackler School of Medicine, Tel-Aviv University (Israel); Kessler, Ada [Department of Diagnostic Imaging, Sourasky Medical Centre, Tel-Aviv (Israel); Horev, Gadi [Department of Diagnostic Imaging, Schneider Medical Centre, Tel-Aviv (Israel)

    2002-02-01

    Background: Abdominal lymphangioma is a rare benign congenital malformation of the mesenteric and/or retroperitoneal lymphatics. Clinical presentation is variable and may be misleading; therefore, complex imaging studies are necessary in the evaluation of this condition. US and CT have a major role in the correct preoperative diagnosis and provide important information regarding location, size, adjacent organ involvement, and expected complications. Objective: To evaluate the clinical and imaging findings of seven children with proven abdominal cystic lymphangioma. Materials and methods: Clinical and imaging files of seven children with pathologically proven abdominal lymphangioma, from three university hospitals, were retrospectively evaluated. Patient's ages ranged from 1 day to 6 years (mean, 2.2 years). Symptoms and signs included evidence of inflammation, abnormal prenatal US findings, chronic abdominal pain, haemorrhage following trauma, clinical signs of intestinal obstruction, and abdominal distension with lower extremities lymphoedema. Plain films of five patients, US of six patients and CT of five patients were reviewed. Sequential imaging examinations were available in two cases. Results: Abdominal plain films showed displacement of bowel loops by a soft tissue mass in five of six patients, two of them with dilatation of small bowel loops. US revealed an abdominal multiloculated septated cystic mass in five of six cases and a single pelvic cyst in one which changed in appearance over 2 months. Ascites was present in three cases. CT demonstrated a septated cystic mass of variable sizes in all available five cases. Sequential US and CT examinations in two patients showed progressive enlargement of the masses, increase of fluid echogenicity, and thickening of walls or septa in both cases, with multiplication of septa in one case. At surgery, mesenteric lymphangioma was found in five patients and retroperitoneal lymphangioma in the other two

  18. Childhood abdominal cystic lymphangioma

    International Nuclear Information System (INIS)

    Konen, Osnat; Rathaus, Valeria; Shapiro, Myra; Dlugy, Elena; Freud, Enrique; Kessler, Ada; Horev, Gadi

    2002-01-01

    Background: Abdominal lymphangioma is a rare benign congenital malformation of the mesenteric and/or retroperitoneal lymphatics. Clinical presentation is variable and may be misleading; therefore, complex imaging studies are necessary in the evaluation of this condition. US and CT have a major role in the correct preoperative diagnosis and provide important information regarding location, size, adjacent organ involvement, and expected complications. Objective: To evaluate the clinical and imaging findings of seven children with proven abdominal cystic lymphangioma. Materials and methods: Clinical and imaging files of seven children with pathologically proven abdominal lymphangioma, from three university hospitals, were retrospectively evaluated. Patient's ages ranged from 1 day to 6 years (mean, 2.2 years). Symptoms and signs included evidence of inflammation, abnormal prenatal US findings, chronic abdominal pain, haemorrhage following trauma, clinical signs of intestinal obstruction, and abdominal distension with lower extremities lymphoedema. Plain films of five patients, US of six patients and CT of five patients were reviewed. Sequential imaging examinations were available in two cases. Results: Abdominal plain films showed displacement of bowel loops by a soft tissue mass in five of six patients, two of them with dilatation of small bowel loops. US revealed an abdominal multiloculated septated cystic mass in five of six cases and a single pelvic cyst in one which changed in appearance over 2 months. Ascites was present in three cases. CT demonstrated a septated cystic mass of variable sizes in all available five cases. Sequential US and CT examinations in two patients showed progressive enlargement of the masses, increase of fluid echogenicity, and thickening of walls or septa in both cases, with multiplication of septa in one case. At surgery, mesenteric lymphangioma was found in five patients and retroperitoneal lymphangioma in the other two. Conclusions: US

  19. Lung Cancers Associated with Cystic Airspaces: Underrecognized Features of Early Disease.

    Science.gov (United States)

    Sheard, Sarah; Moser, Joanna; Sayer, Charlie; Stefanidis, Konstantinos; Devaraj, Anand; Vlahos, Ioannis

    2018-01-01

    Early lung cancers associated with cystic airspaces are increasingly being recognized as a cause of delayed diagnoses-owing to data gathered from screening trials and encounters in routine clinical practice as more patients undergo serial imaging. Several morphologic subtypes of cancers associated with cystic airspaces exist and can exhibit variable patterns of progression as the solid elements of the tumor grow. Current understanding of the pathogenesis of these malignancies is limited, and the numbers of cases reported in the literature are small. However, several tumor cell types are represented in these lesions, with adenocarcinoma predominating. The features of cystic airspaces differ among cases and include emphysematous bullae, congenital or fibrotic cysts, subpleural blebs, bronchiectatic airways, and distended distal airspaces. Once identified, these cystic lesions pose management challenges to radiologists in terms of distinguishing them from benign mimics of cancer that are commonly seen in patients who also are at increased risk of lung cancer. Rendering a definitive tissue-based diagnosis can be difficult when the lesions are small, and affected patients tend to be in groups that are at higher risk of requiring biopsy or resection. In addition, the decision to monitor these cases can add to patient anxiety and cause the additional burden of strained departmental resources. The authors have drawn from their experience, emerging evidence from international lung cancer screening trials, and large databases of lung cancer cases from other groups to analyze the prevalence and evolution of lung cancers associated with cystic airspaces and provide guidance for managing these lesions. Although there are insufficient data to support specific management guidelines similar to those for managing small solid and ground-glass lung nodules, these data and guidelines should be the direction for ongoing research on early detection of lung cancer. © RSNA, 2018.

  20. The cost-effectiveness of neonatal screening for Cystic Fibrosis: an analysis of alternative scenarios using a decision model

    Directory of Open Access Journals (Sweden)

    Tu Karen

    2005-08-01

    Full Text Available Abstract Background The use of neonatal screening for cystic fibrosis is widely debated in the United Kingdom and elsewhere, but the evidence available to inform policy is limited. This paper explores the cost-effectiveness of adding screening for cystic fibrosis to an existing routine neonatal screening programme for congenital hypothyroidism and phenylketonuria, under alternative scenarios and assumptions. Methods The study is based on a decision model comparing screening to no screening in terms of a number of outcome measures, including diagnosis of cystic fibrosis, life-time treatment costs, life years and QALYs gained. The setting is a hypothetical UK health region without an existing neonatal screening programme for cystic fibrosis. Results Under initial assumptions, neonatal screening (using an immunoreactive trypsin/DNA two stage screening protocol costs £5,387 per infant diagnosed, or £1.83 per infant screened (1998 costs. Neonatal screening for cystic fibrosis produces an incremental cost-effectiveness of £6,864 per QALY gained, in our base case scenario (an assumed benefit of a 6 month delay in the emergence of symptoms. A difference of 11 months or more in the emergence of symptoms (and mean survival means neonatal screening is both less costly and produces better outcomes than no screening. Conclusion Neonatal screening is expensive as a method of diagnosis. Neonatal screening may be a cost-effective intervention if the hypothesised delays in the onset of symptoms are confirmed. Implementing both antenatal and neonatal screening would undermine potential economic benefits, since a reduction in the birth incidence of cystic fibrosis would reduce the cost-effectiveness of neonatal screening.

  1. Congenital Syphilis Masquerading as Leukemia

    OpenAIRE

    Lee, Tiffany; Bell, Stephanie; Scimeme, Jason; Maraqa, Nizar

    2017-01-01

    As of late, the incidence of congenital syphilis in the United States is increasing. Each new case represents a failure of preventing, diagnosing, and treating syphilis in pregnant women. Pediatricians should confirm that all women have received adequate screening for and management of syphilis during pregnancy. Congenital syphilis is easily treatable but may be a diagnostic challenge with high morbidity and mortality.

  2. What Are Congenital Heart Defects?

    Science.gov (United States)

    ... a baby with a congenital heart defect. Family history and genetics Congenital heart disease is not usually passed along ... you or your child to a specialist in genetic testing. Cardiac MRI to diagnose a ... Factors to review family history, smoking, and medicines that increase your risk of ...

  3. Anorexia nervosa in cystic fibrosis.

    Science.gov (United States)

    Linkson, Lynette; Macedo, Patricia; Perrin, Felicity M R; Elston, Caroline M

    2018-03-01

    This article explores the challenges associated with diagnosing and managing eating disorders such as anorexia nervosa amongst adolescents and adults with cystic fibrosis. It reviews the known risk factors, generic verses disease specific eating disorder risk screening tools and considers the ethical dilemmas associated with critically low body mass indices. A case review is included to illustrate the complexities of managing both conditions in the context of declining respiratory function. Copyright © 2017. Published by Elsevier Ltd.

  4. Dual Pathology Causing Congenital Bladder Outlet Obstruction.

    Science.gov (United States)

    Kwong, Ruth; Johal, Navroop S; Upasani, Anand; Paul, Anu; Cuckow, Peter

    2017-12-07

    Anterior urethral syringocele is an uncommon congenital deformity characterised by cystic dilatation of bulbo-urethral gland ducts and is usually asymptomatic. We present a case on 4-day-old male neonate who presented with bilateral antenatal hydroureteronephrosis and renal impairment and found to have urethral syringocele and posterior urethral valves (PUV). Copyright © 2017. Published by Elsevier Inc.

  5. Health- related quality of life and self-worth in 10-year old children with congenital hypothyroidism diagnosed by neonatal screening

    Directory of Open Access Journals (Sweden)

    van der Sluijs Veer Liesbeth

    2012-10-01

    Full Text Available Abstract Background Much is written about cognitive and motor development; less is known about social and emotional consequences of growing up with congenital hypothyroidism (CH. The objectives of the study were: (1 to compare health related quality of life (HRQoL and self-worth of 10 year old patients with CH with the general population; (2 to explore associations of disease factors, IQ and motor skills with the outcomes. Methods Children with CH and their parents completed several questionnaires. Patients were classified to ‘severe CH, n = 41’ or ‘moderate/mild CH, n = 41’ based on pre-treatment FT4 concentration. Differences between CH and the general population were tested by analysis of covariance and one sample t-tests (mean scale scores HRQoL and self-worth, chi-square tests and binomial tests (% at risk of impaired HRQoL and self-worth. Linear regression analyses corrected for gender were conducted to explore associations of the outcomes with disease factors, IQ and motor skills. Results Patients with CH reported lower mean HRQoL on motor, cognitive and social functioning, and on autonomy and positive emotions (p  Conclusions Negative consequences in terms of HRQoL and self-worth are prevalent in children with CH, independent of disease factors, IQ and motor skills. Physicians should to be attentive to these consequences and provide attention and supportive care.

  6. Congenital Hypothyroidism

    Science.gov (United States)

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

  7. Cystic Fibrosis (CF): Chloride Sweat Test

    Science.gov (United States)

    ... on this topic for: Parents Kids Teens Cystic Fibrosis Cystic Fibrosis and Nutrition Cystic Fibrosis (CF) Respiratory Screen: Sputum Cystic Fibrosis: Diet and Nutrition Cystic Fibrosis Cystic Fibrosis: Diet and Nutrition View more Partner Message ...

  8. Health- related quality of life and self-worth in 10-year old children with congenital hypothyroidism diagnosed by neonatal screening.

    Science.gov (United States)

    van der Sluijs Veer, Liesbeth; Kempers, Marlies Je; Maurice-Stam, Heleen; Last, Bob F; Vulsma, Tom; Grootenhuis, Martha A

    2012-10-03

    Much is written about cognitive and motor development; less is known about social and emotional consequences of growing up with congenital hypothyroidism (CH).The objectives of the study were: (1) to compare health related quality of life (HRQoL) and self-worth of 10 year old patients with CH with the general population; (2) to explore associations of disease factors, IQ and motor skills with the outcomes. Children with CH and their parents completed several questionnaires. Patients were classified to 'severe CH, n = 41' or 'moderate/mild CH, n = 41' based on pre-treatment FT4 concentration.Differences between CH and the general population were tested by analysis of covariance and one sample t-tests (mean scale scores HRQoL and self-worth), chi-square tests and binomial tests (% at risk of impaired HRQoL and self-worth). Linear regression analyses corrected for gender were conducted to explore associations of the outcomes with disease factors, IQ and motor skills. Patients with CH reported lower mean HRQoL on motor, cognitive and social functioning, and on autonomy and positive emotions (p < 0.0001). Patients were also more often at risk for impaired HRQoL and self-worth. No differences were found between the severity groups. Lower IQ was only significant associated with worse cognitive HRQoL. Initial FT4 plasma, age at onset of therapy, initial T4 dose and motor skills were not significantly associated with HRQoL and self-worth. Negative consequences in terms of HRQoL and self-worth are prevalent in children with CH, independent of disease factors, IQ and motor skills. Physicians should to be attentive to these consequences and provide attention and supportive care.

  9. Cystic fibrosis: case report

    International Nuclear Information System (INIS)

    Park, Si Hyun; Lee, Hyun Ju; Kim, Ji Hye; Park, Chol Heui

    2002-01-01

    Cystic fibrosis is an autosomal recessive genetic disease. Among Caucasians, it is the most common cause of pulmonary insufficiency during the first three decades of life. The prevalence of cystic fibrosis varies according to ethnic origin: it is common among Caucasians but rare among Asians. We report a case in which cystic fibrosis with bronchiectasis and hyperaeration was revealed by high-resolution CT, and mutation of the cystic fibrosis conductance transmembrane regulator gene (CFTR) by DNA analysis

  10. Cystic fibrosis: case report

    International Nuclear Information System (INIS)

    Park, Si Hyun; Lee, Hyun Ju; Kim, Ji Hye; Park, Chol Heui

    2002-01-01

    Cystic fibrosis is a autosomal recessive genetic disease. Among caucasians, it is the most common cause of pulmonary insufficiency during the first three decades of life. The prevalence of cystic fibrosis varies according to ethnic origin: it is common among caucasians but rare among Asians. We report a case in which cystic fibrosis with bronchiectasis and hyperaeration was revealed by high-resolution CT, and mutation of the cystic fibrosis conductance transmembrane regulator gene (CFTR) by DNA analysis

  11. Congenital pulmonary airway malformation (CPAM) with initial presentation in an adult: a rare presentation of a rare disease.

    Science.gov (United States)

    Abu Omar, Mohannad; Tylski, Emily; Abu Ghanimeh, Mouhanna; Gohar, Ashraf

    2016-09-26

    Congenital pulmonary airway malformation (CPAM) is a rare congenital abnormality with unknown exact aetiology or clear genetic association. It is characterised by a failure of bronchial development and localised glandular overgrowth. Typically, it is diagnosed on prenatal ultrasound, only infrequently in children, and even less commonly in adults. We present a case of a 25-year-old man, with no previous lung diseases who presented with right-sided chest pain, fever and cough suggestive of pulmonary infection. Chest imaging, including CT scan, showed a large focal cystic mass within the right lower lobe along with ground glass opacities suggestive of CPAM. He was started on intravenous antibiotics. Bronchoscopy showed a large amount of pus in the right lung and bronchoalveolar lavage confirmed the microbiological diagnosis of methicillin-resistant Staphylococcus aureus. He improved with antibiotic treatment. He was discharged with 6-week course of antibiotics and follow-up afterward. 2016 BMJ Publishing Group Ltd.

  12. Unusual cystic pancreatic neoplasms -image-pathological correlations

    International Nuclear Information System (INIS)

    Hilendarov, A.; Simova, E.; Petrova, A.; Traikova, N.; Deenichin, G.

    2013-01-01

    The aim is to present the variety of signs and symptoms from the diagnostic imaging methods of atypical neoplasms of the pancreas, presented as a type of cystic lesions. This often leads to unnecessary surgery or inappropriate tracking. In 115 patients (85 men and 30 women) with cystic lesions of the pancreas ultrasonic (US),computer tomography (CT) and magnetic resonance imaging (MRI) were performed and verified through histological and macroscopic pathology preparations. The ultrasound machines equipped with linear and convex transducers, MDCT and MRI imaging systems were used. In 14 of 115 patients atypical neoplasms of the pancreas were diagnosed: two cases with macroscopic serous cystic neoplasms, two nonmucinous cystic neoplasms, two hemorrhagic mucinous neoplasms, two ductal adenocarcinomas with cystic changes, one islet cell cystic tumor, two lymphoepithetial cysts, one lymphangioma, one solid papillary epithelial neoplasm and one mucinous adenocarcinoma. The authors take into consideration and overlapping of clinical symptoms and laboratory tests. Although much of the imaging features and morphological characteristics of cystic neoplasms of the pancreas are well known, should be known about the atypical unusual images in so-called 'typical' cystic neoplasms, cystic images in solid neoplasms and various atypical tumors with cystic lesions. (authors)

  13. Modelling survival and mortality risk to 15 years of age for a national cohort of children with serious congenital heart defects diagnosed in infancy.

    Directory of Open Access Journals (Sweden)

    Rachel L Knowles

    Full Text Available Congenital heart defects (CHDs are a significant cause of death in infancy. Although contemporary management ensures that 80% of affected children reach adulthood, post-infant mortality and factors associated with death during childhood are not well-characterised. Using data from a UK-wide multicentre birth cohort of children with serious CHDs, we observed survival and investigated independent predictors of mortality up to age 15 years.Data were extracted retrospectively from hospital records and death certificates of 3,897 children (57% boys in a prospectively identified cohort, born 1992-1995 with CHDs requiring intervention or resulting in death before age one year. A discrete-time survival model accounted for time-varying predictors; hazards ratios were estimated for mortality. Incomplete data were addressed through multilevel multiple imputation.By age 15 years, 932 children had died; 144 died without any procedure. Survival to one year was 79.8% (95% confidence intervals [CI] 78.5, 81.1% and to 15 years was 71.7% (63.9, 73.4%, with variation by cardiac diagnosis. Importantly, 20% of cohort deaths occurred after age one year. Models using imputed data (including all children from birth demonstrated higher mortality risk as independently associated with cardiac diagnosis, female sex, preterm birth, having additional cardiac defects or non-cardiac malformations. In models excluding children who had no procedure, additional predictors of higher mortality were younger age at first procedure, lower weight or height, longer cardiopulmonary bypass or circulatory arrest duration, and peri-procedural complications; non-cardiac malformations were no longer significant.We confirm the high mortality risk associated with CHDs in the first year of life and demonstrate an important persisting risk of death throughout childhood. Late mortality may be underestimated by procedure-based audit focusing on shorter-term surgical outcomes. National monitoring

  14. Modelling survival and mortality risk to 15 years of age for a national cohort of children with serious congenital heart defects diagnosed in infancy.

    Science.gov (United States)

    Knowles, Rachel L; Bull, Catherine; Wren, Christopher; Wade, Angela; Goldstein, Harvey; Dezateux, Carol

    2014-01-01

    Congenital heart defects (CHDs) are a significant cause of death in infancy. Although contemporary management ensures that 80% of affected children reach adulthood, post-infant mortality and factors associated with death during childhood are not well-characterised. Using data from a UK-wide multicentre birth cohort of children with serious CHDs, we observed survival and investigated independent predictors of mortality up to age 15 years. Data were extracted retrospectively from hospital records and death certificates of 3,897 children (57% boys) in a prospectively identified cohort, born 1992-1995 with CHDs requiring intervention or resulting in death before age one year. A discrete-time survival model accounted for time-varying predictors; hazards ratios were estimated for mortality. Incomplete data were addressed through multilevel multiple imputation. By age 15 years, 932 children had died; 144 died without any procedure. Survival to one year was 79.8% (95% confidence intervals [CI] 78.5, 81.1%) and to 15 years was 71.7% (63.9, 73.4%), with variation by cardiac diagnosis. Importantly, 20% of cohort deaths occurred after age one year. Models using imputed data (including all children from birth) demonstrated higher mortality risk as independently associated with cardiac diagnosis, female sex, preterm birth, having additional cardiac defects or non-cardiac malformations. In models excluding children who had no procedure, additional predictors of higher mortality were younger age at first procedure, lower weight or height, longer cardiopulmonary bypass or circulatory arrest duration, and peri-procedural complications; non-cardiac malformations were no longer significant. We confirm the high mortality risk associated with CHDs in the first year of life and demonstrate an important persisting risk of death throughout childhood. Late mortality may be underestimated by procedure-based audit focusing on shorter-term surgical outcomes. National monitoring systems should

  15. MRI in mucoviscidosis (cystic fibrosis)

    International Nuclear Information System (INIS)

    Eichinger, M.; Puderbach, M.; Kauczor, H.-U.; Heussel, C.-P.

    2006-01-01

    Cystic fibrosis (CF) is a multi-systemic disease with major impact on the lungs. Pulmonary manifestation is crucial for the prognosis and life expectancy of patients. Imaging modalities and lung function tests reflect the pulmonary status in these patients. The standard imaging modality for diagnosis and follow-up of pulmonary changes is chest x-ray. The gold standard for the detection of parenchymal lung changes remains high resolution computed tomography (HRCT), but this is not used routinely for CF-patients due to radiation exposure. Magnetic resonance imaging (MRI) used to be of no importance in monitoring cystic fibrosis lung disease, as shown in studies from the 1980s and early 1990s. The continuing improvement of MRI techniques, however, has allowed for an adequate application of this non-radiation method in diagnosing the major pulmonary findings in CF, in addition to the assessment of lung function. (orig.) [de

  16. Congenital spinal malformations

    International Nuclear Information System (INIS)

    Ertl-Wagner, B.B.; Reiser, M.F.

    2001-01-01

    Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.) [de

  17. Heterotopic pancreatic tissue presenting as a solid and cystic lung lesion : A very unusual bronchopulmonary foregut malformation

    NARCIS (Netherlands)

    De Kruger, RR; Albers, MJIJ; Mooi, WJ; Bogers, J.J.C.

    2004-01-01

    We describe the history and lung pathology of a premature female infant, who presented with respiratory distress immediately after birth. A thoracic computerized tomography scan showed abnormalities suggestive of congenital cystic adenomatoid malformation of the left lung. In addition,

  18. CYSTIC AMELOBLASTOMA: A CLINICO-PATHOLOGIC REVIEW

    African Journals Online (AJOL)

    a tertiary health care centre. Materials: All cases diagnosed as cystic ameloblastoma in the ..... Unicystic amelobla- stoma. A prognostically distinct entity. Cancer. 1977;40: 2278-2285. 4. Ackermann GL, Altini M, Shear M: The unicystic ameloblastoma: A clinicopathologic study of 57 cases. J Oral Pathol. 1988;17: 541-546. 5.

  19. Profile of cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Mona M. El-Falaki

    2014-09-01

    Full Text Available It was generally believed that Cystic fibrosis (CF is rare among Arabs; however, the few studies available from Egypt and other Arabic countries suggested the presence of many undiagnosed patients. The aim of the present study was to determine the frequency of CF patients out of the referred cases in a single referral hospital in Egypt. A total of 100 patients clinically suspected of having CF were recruited from the CF clinic of the Allergy and Pulmonology Unit, Children’s Hospital, Cairo University, Egypt, throughout a 2 year period. Sweat chloride testing was done for all patients using the Wescor macroduct system for collection of sweat. Quantitative analysis for chloride was then done by the thiocyanate colorimetric method. Patients positive for sweat chloride (⩾60 mmol/L were tested for the ΔF508 mutation using primer specific PCR for cystic fibrosis transmembrane conductance regulator (CFTR gene. Thirty-six patients (36% had a positive sweat chloride test. The main clinical presentations in patients were chronic cough in 32 (88.9%, failure to thrive in 27 (75%, steatorrhea in 24 (66.7%, and hepatobiliary involvement in 5 (13.9%. Positive consanguinity was reported in 50% of CF patients. Thirty-two patients were screened for ΔF508 mutation. Positive ΔF508 mutation was detected in 22 (68.8% patients, 8 (25% were homozygous, 14 (43.8% were heterozygous, and 10 (31.3% tested were negative. CF was diagnosed in more than third of patients suspected of having the disease on clinical grounds. This high frequency of CF among referred patients indicates that a high index of suspicion and an increasing availability of diagnostic tests lead to the identification of a higher number of affected individuals.

  20. Congenital cervical bronchogenic cyst: A case report

    Directory of Open Access Journals (Sweden)

    Kiralj Aleksandar

    2015-01-01

    Full Text Available Introduction. Bronchogenic cysts are rare congenital anomalies of the embryonic foregut. They are caused by abnormal budding of diverticulum of the embryonic foregut between the 26th and 40th day of gestation. Bronchogenic cysts can appear in the mediastinum and pulmonary parenchyma, or at ectopic sites (neck, subcutaneous tissue or abdomen. So far, 70 cases of cervical localization of bronchogenic cysts have been reported. Majority of bronchogenic cysts have been diagnosed in the pediatric population. Bronchogenic cysts of the cervical area are generally asymptomatic and symptoms may occur if cysts become large or in case of infection of the cyst. The diagnosis is made based on clinical findings, radiological examination, but histopathologic findings are essential for establishing the final diagnosis. Treatment of cervical bronchogenic cyst involves surgical excision. Case Outline. Authors present a case of a 6-year-old female patient sent by a pediatrician to a maxillofacial surgeon due to asymptomatic lump on the left side of the neck. The patient had frequent respiratory infections and respiratory obstructions. Magnetic resonance imaging (MRI of the neck was performed and a well-circumscribed cystic formation on the left side of the neck was observed, with paratracheal location. The complete excision of the cyst was made transcervically. Histopathological findings pointed to bronchogenic cyst. Conclusion. Cervical bronchogenic cysts are rare congenital malformations. Considering the location, clinical findings and the radiological features, these cysts resemble other cervical lesions. Surgical treatment is important because it is both therapeutic and diagnostic. Reliable diagnosis of bronchogenic cysts is based on histopathological examination.

  1. Cystic Fibrosis-Related Diabetes

    Directory of Open Access Journals (Sweden)

    Kayani Kayani

    2018-02-01

    Full Text Available Cystic fibrosis (CF is the most common autosomal recessive disorder in Caucasian populations. Individuals with CF have seen significant increases in life expectancy in the last 60 years. As a result, previously rare complications are now coming to light. The most common of these is cystic fibrosis-related diabetes (CFRD, which affects 40–50% of CF adults. CFRD significantly impacts the pulmonary function and longevity of CF patients, yet a lack of consensus on the best methods to diagnose and treat CFRD remains. We begin by reviewing our understanding of the pathogenesis of CFRD, as emerging evidence shows the cystic fibrosis transmembrane conductance regulator (CFTR also has important roles in the release of insulin and glucagon and in the protection of β cells from oxidative stress. We then discuss how current recommended methods of CFRD diagnosis are not appropriate, as continuous glucose monitoring becomes more effective, practical, and cost-effective. Finally, we evaluate emerging treatments which have narrowed the mortality gap within the CF patient group. In the future, pharmacological potentiators and correctors directly targeting CFTR show huge promise for both CFRD and the wider CF patient groups.

  2. Congenital cytomegalovirus infection

    Directory of Open Access Journals (Sweden)

    Katarina Rednak-Paradiž

    2006-11-01

    Full Text Available Background: CMV is the most common agent that causes congenital virus infection. Only 10 % of infected children have symptomatic infection immediately after birth. Signs of central nervous system damage, neurosensory deafness and delayed psychomotor development may manifest as a result of asimptomatic congenital infection later in childhood. In the article we present basic properties of CMV; we describe clinical picture of the congenital infection and possibilities of diagnose and its treatment. We present five children with symptomatic congenital CMV infection that were hospitalized for the period 1992–2002 at the Neonatal department in the University Children’s Hospital in Ljubljana.Conclusions: Identification of infected neonates, especially those with asimptomatic congenital CMV infection, is difficult. Latest incidence of infection in Slovenia is unknown. With new investigations the efficiency of antiviral therapy was discovered but exact indications for therapy are not yet known. CMV vaccine, once available, may ultimately be the best control strategy for this important public health problem. Proper educating women in childbearing age about the risks of CMV and how to avoid disease transmission during pregnancy (hand washing, avoiding mouth-to-mouth contact with preschool children, usage of gloves especially when handling dipers or respiratory secretions are the only control strategies available.

  3. Congenital tuberculosis

    African Journals Online (AJOL)

    Prof Ezechukwu

    2012-06-20

    Jun 20, 2012 ... Key words: Congenital tuberculo- sis, case report, miliary tuberculosis. Introduction. Congenital tuberculosis defines tuberculosis in infants of .... tary TB and otitis media, resulting in seizures, deafness, and death. It is therefore not surprising that the index case who presented at twelve weeks of age, had ...

  4. Congenital Abnormalities

    Science.gov (United States)

    ... tube defects. However, there is also a genetic influence to this type of congenital anomaly. Unknown Causes The vast majority of congenital abnormalities have no known cause. This is particularly troubling for parents who plan to have more children, because there is no way to predict if ...

  5. [Neonatal tumours and congenital malformations].

    Science.gov (United States)

    Berbel Tornero, O; Ortega García, J A; Ferrís i Tortajada, J; García Castell, J; Donat i Colomer, J; Soldin, O P; Fuster Soler, J L

    2008-06-01

    The association between pediatric cancer and congenital abnormalities is well known but, there is no exclusive data on the neonatal period and the underlying etiopathogenic mechanisms are unknown. First, to analyze the frequency of neonatal tumours associated with congenital abnormalities; and second, to comment on the likely etiopathogenic hypotheses of a relationship between neonatal tumours and congenital abnormalities. Historical series of neonatal tumours from La Fe University Children's Hospital in Valencia (Spain), from January 1990 to December 1999. Histological varieties of neonatal tumours and associated congenital abnormalities were described. A systematic review of the last 25 years was carried out using Medline, Cancerlit, Index Citation Science and Embase. The search profile used was the combination of "neonatal/congenital-tumors/cancer/neoplasms" and "congenital malformations/birth defects". 72 neonatal tumours were identified (2.8% of all pediatric cancers diagnosed in our hospital) and in 15 cases (20.8%) there was some associated malformation, disease or syndrome. The association between congenital abnormalities and neonatal tumours were: a) angiomas in three patients: two patients with congenital heart disease with a choanal stenosis, laryngomalacia; b) neuroblastomas in two patients: horseshoe kidney with vertebral anomalies and other with congenital heart disease; c) teratomas in two patients: one with cleft palate with vertebral anomalies and other with metatarsal varus; d) one tumour of the central nervous system with Bochdaleck hernia; e) heart tumours in four patients with tuberous sclerosis; f) acute leukaemia in one patient with Down syndrome and congenital heart disease; g) kidney tumour in one case with triventricular hydrocephaly, and h) adrenocortical tumour: hemihypertrophy. The publications included the tumours diagnosed in different pediatric periods and without unified criteria to classify the congenital abnormalities. Little data

  6. Neonatal cystic fibrosis screening test

    Science.gov (United States)

    Cystic fibrosis screening - neonatal; Immunoreactive trypsinogen; IRT test; CF - screening ... Cystic fibrosis is a disease passed down through families. CF causes thick, sticky mucus to build up in ...

  7. Congenital intestinal lymphangiectasia. A case report

    Directory of Open Access Journals (Sweden)

    Georgios Mitsiakos

    2017-12-01

    Full Text Available Congenital intestinal lymphangiectasia, first described by Waldmann et al. in 1961, is a rare congenital malformation of the lymphatics, presented with generalized edema, hypoproteinemia and lymphopenia. Diagnosis is based on endoscopy findings and pathology.We present here a case of a male neonate, second child of an indigenous woman, delivered by caesarean section. Prenatally, multiple cystic abdominal masses were identified by ultrasound. The patient was treated successfully with enterectomy and anastomosis. Histopathology revealed primary intestinal lymphangiectasia with no features of malignancy.Intestinal lymphangiectasia is a rare pathology, which should be differentiated while exploring abdominal masses, hypoproteinemia and edema especially in neonates.

  8. Congenital generalized lipodystrophia: a case report

    International Nuclear Information System (INIS)

    Malheiros, N.R.; Marchiori, E.; Praxedes, M.C.; Machado, D.M.; Carvalho, A.A.V.

    1995-01-01

    Congenital generalized lipodystrophia is a rare genetic disorder, transmitted as an autosomal recessive trait and is prevalent on female. This paper presents a case of a man, 36-year-old, suffering from congenital generalized lipodystrophia with clinical features of diabetes mellitus and dyspnea. Radiographic findings have shown cystic areas in the skeleton, interstitial pulmonary fibrosis and paucity of abdominal fat. Radiological and anatomo-pathological aspects are presented as well as a review of the medical literature about the case. (author). 8 refs, 4 figs

  9. Diagnosis of cystic fibrosis

    NARCIS (Netherlands)

    H.J. Veeze

    1995-01-01

    textabstractApplying the sweat-test as the first choice of test when a diagnosis of cystic fibrosis is suspected is still common practice and advisable. Since the cloning of the CFTR gene more than 400 different cystic fibrosis (CF) mutations have already been identified. The use of CF mutation

  10. Mucinous cystic neoplasm of the pancreas in a male patient

    Directory of Open Access Journals (Sweden)

    Kazuhiro Yoshida

    2011-04-01

    Full Text Available Mucinous cystic neoplasms (MCNs make up a morphologic family of similar appearing tumors arising in the ovary and various extraovarian organs such as pancreas, hepatobiliary tract and mesentery. MCNs of the pancreas occur almost exclusively in women. Here, we report a rare case of MCN in a male patient. A 39-year-old man was admitted to our hospital with the chief complaint of back pain. Abdominal computed tomography revealed a multilocular cyctic mass 6.3 cm in diameter in the pancreatic tail. In addition, the outer wall and septae with calcification were demonstrated in the cystic lesion. On magnetic resonance imaging , the cystic fluid had low intensity on T1-weighted imaging and high intensity on T2-weighted imaging. Endoscopic retrograde cholangio-pancreatography (ERCP showed neither communication between the cystic lesion and the main pancreatic duct nor encasement of the main pancreatic duct. Endoscopic ultrasonography revealed neither solid component nor thickness of the septae in the cystic lesion. Consequently, we performed distal pancreatectomy with splenectomy under the diagnosis of cystic neoplasia of the pancreas. Histopathologically, the cystic lesion showed two distinct component: an inner epithelial layer and an outer densely cellular ovarian-type stromal layer. Based on these findings, the cystic lesion was diagnosed as MCN.

  11. Congenital rubella

    Science.gov (United States)

    ... that usually closes shortly after birth remains open ( patent ductus arteriosus ) Narrowing of the large artery that ... prior to pregnancy can prevent congenital rubella. Pregnant women who have not had the vaccine should avoid ...

  12. Congenital pulmonary airway malformations: state-of-the-art review for pediatrician's use.

    Science.gov (United States)

    Leblanc, Claire; Baron, Marguerite; Desselas, Emilie; Phan, Minh Hanh; Rybak, Alexis; Thouvenin, Guillaume; Lauby, Clara; Irtan, Sabine

    2017-12-01

    Congenital pulmonary airway malformations or CPAM are rare developmental lung malformations, leading to cystic and/or adenomatous pulmonary areas. Nowadays, CPAM are diagnosed prenatally, improving the prenatal and immediate postnatal care and ultimately the knowledge on CPAM pathophysiology. CPAM natural evolution can lead to infections or malignancies, whose exact prevalence is still difficult to assess. The aim of this "state-of-the-art" review is to cover the recently published literature on CPAM management whether the pulmonary lesion was detected during pregnancy or after birth, the current indications of surgery or surveillance and finally its potential evolution to pleuro-pulmonary blastoma. Surgery remains the cornerstone treatment of symptomatic lesions but the postnatal management of asymptomatic CPAM remains controversial. There are pros and cons of surgical resection, as increasing rate of infections over time renders the surgery more difficult after months or years of evolution, as well as risk of malignancy, though exact incidence is still unknown. What is known: • Congenital pulmonary airway malformations (CPAM) are rare developmental lung malformations mainly antenatally diagnosed. • While the neonatal management of symptomatic CPAM is clear and includes prompt surgery, controversies remain for asymptomatic CPAM due to risk of infections and malignancies. What is new: • Increased rate of infection over time renders the surgery more difficult after months or years of evolution and pushes for recommendation of early elective surgery. • New molecular or pathological pathways may help in the distinction of type 4 CPAM from type I pleuropulmonary blastoma.

  13. Adenoid cystic carcinoma associated with mucous retention cyst of the parotid gland.

    Science.gov (United States)

    Hebbale, Manjula Advisha; Halli, Rajshekhar C; Kini, Yogesh K; Kharkar, Viraj R; Metgud, Rashmi

    2011-09-01

    Mucous retention cysts of the parotid gland are rare, and a coexistent adenoid cystic carcinoma is even an unusual occurrence. Such coexistent adenoid cystic carcinomas with mucous retention cyst of the parotid gland are difficult to diagnose clinically and, at times, stage difficulty in their management. We report a rare case of adenoid cystic carcinoma associated with mucous retention cyst of the parotid gland with its diagnostic and management dilemma in a 14-year-old adolescent girl.

  14. Transcatheter Arterial Embolization of Cystic Artery Pseudoaneurysm in Acalculous Cholecystitis: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Hyung Ook; Lee, Young Hwan [Dept. of Radiology, Daegu Catholic University College of Medicine, Daegu (Korea, Republic of); Kim, Young Hwan [Dept. of Diagnostic Radiology, Dongsan Medical Center, Keimyung University College of Medicine, Daegu (Korea, Republic of)

    2011-04-15

    A pseudoaneurysm of the cystic artery is a rare complication of cholecystitis, and is manifested by hemobilia or hematemesis. An early diagnosis is required for the successful treatment by cholecystectomy and ligation of the cystic artery. Herein, we report a case of a pseudoaneurysm of the cystic artery diagnosed by color Doppler ultrasonography and CT, and successfully treated by transcatheter arterial embolization with N-butyl cyanoacrylate in a high-risk surgical patient.

  15. 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.

  16. [Congenital intestinal lymphangiectasia].

    Science.gov (United States)

    Popović, Dugan D j; Spuran, Milan; Alempijević, Tamara; Krstić, Miodrag; Djuranović, Srdjan; Kovacević, Nada; Damnjanović, Svetozar; Micev, Marjan

    2011-03-01

    Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortuous, 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. 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 supportive therapy. 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.

  17. Congenital bronchobiliary fistula: MRI appearance

    International Nuclear Information System (INIS)

    Hourigan, Jon S.; Carr, Michael G.; Burton, Edward M.; Ledbetter, Joel C.

    2004-01-01

    Congenital bronchobiliary fistula (CBBF) is a rare anomaly. Twenty-three cases have been reported since the anomaly was first described in 1952. Most of these cases were diagnosed by bronchoscopy, cholangiography, or hepatobiliary nuclear imaging. Our case of a newborn with bilious emesis with CBBF was depicted by T1-weighted gradient-echo MRI sequences. (orig.)

  18. Clinical and morphological characteristics of malformations in infants with congenital cytomegalovirus infection and congenital toxoplasmosis

    Directory of Open Access Journals (Sweden)

    L. Yu. Barycheva

    2015-01-01

    Full Text Available The results of following up infants with intrauterine infections and malformations were retrospectively analyzed. Infants with malformations were diagnosed as having congenital cytomegalovirus infection and congenital toxoplasmosis in 127 and 69 cases, respectively. The aim of the study was to characterize malformations in infants with congenital cytomegalovirus and congenital Toxoplasma infections. The infants with malformations in congenital cytomegalovirus infection were found to have higher mortality rates (61,4% than those with congenital toxoplasmosis (34,8%. Postmortem analysis indicated that there was a predominance of embryopathies in infants with congenital cytomegalovirus infection and that of fetopathies in those with congenital toxoplasmosis. The dead infants with congenital cytomegalovirus infection had more commonly developed visceral defects, including heart diseases, pneumopathies, gastrointestinal and genitourinary abnormalities; fetopathies of the central nervous system and eye were prevalent in congenital toxoplasmosis. The surviving children with congenital toxoplasmosis were more frequently observed to have disabling CNS and ocular sequels as obstructive hydrocephalus, infantile cerebral palsy, complete or partial blindness, and cerebrasthenic disorders than those with congenital cytomegalovirus infection. 

  19. CT findings and differential diagnosis of cystic neck masses

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Ji Yeon; Lee, Kil Jun; Jeong, Seong Ki; Han, Seong Nim; Tae, Seok; Shin, Kyoung Ja; Lee, Sang Chun [Seoul Red Cross Hospital, Seoul (Korea, Republic of)

    1995-10-15

    The purpose of this study is to analyze the CT features of the cystic masses in the neck and to review differential diagnosis. We retrospectively reviewed and analyzed the CT findings of 22 histopathologically proved, cystic neck masses in regard to the location in fascial plane and relationship with adjacent organ. Of 22 cases, ten congenital cysts two ranulas, seven inflammatory lesions, and three solid tumors were included. Ten congenital cystic masses were located in typical locations as branchial cleft cyst (5) in mandibular angle, thyroglossal duct cyst (3) in visceral space embeded within the strap muscles, cystic hygroma (1) and cavernous hemangioma (1) in posterior cervical space with insinuating appearance. Two cases of ranula included one simple ranula localized in sublingual space and a plunging ranula extending to adjacent submandibular space. Seven cases of inflammatory lesions were characterized by multispatial locations and good contrast-enhancement of walls and adjacent tissue. Solid masses of low density mimicking cyst were two pleomorphic adenomas of submandibular gland and one neurilemmoma. It is considered that thorough analysis of the CT findings with attention to typical location, CT appearance, and the relationship with the adjacent structures usually leads to the correct diagnosis.

  20. Cystic lesion around the hip joint

    Science.gov (United States)

    Yukata, Kiminori; Nakai, Sho; Goto, Tomohiro; Ikeda, Yuichi; Shimaoka, Yasunori; Yamanaka, Issei; Sairyo, Koichi; Hamawaki, Jun-ichi

    2015-01-01

    This article presents a narrative review of cystic lesions around the hip and primarily consists of 5 sections: Radiological examination, prevalence, pathogenesis, symptoms, and treatment. Cystic lesions around the hip are usually asymptomatic but may be observed incidentally on imaging examinations, such as computed tomography and magnetic resonance imaging. Some cysts may enlarge because of various pathological factors, such as trauma, osteoarthritis, rheumatoid arthritis, or total hip arthroplasty (THA), and may become symptomatic because of compression of surrounding structures, including the femoral, obturator, or sciatic nerves, external iliac or common femoral artery, femoral or external iliac vein, sigmoid colon, cecum, small bowel, ureters, and bladder. Treatment for symptomatic cystic lesions around the hip joint includes rest, nonsteroidal anti-inflammatory drug administration, needle aspiration, and surgical excision. Furthermore, when these cysts are associated with osteoarthritis, rheumatoid arthritis, and THA, primary or revision THA surgery will be necessary concurrent with cyst excision. Knowledge of the characteristic clinical appearance of cystic masses around the hip will be useful for determining specific diagnoses and treatments. PMID:26495246

  1. Cystic fibrosis with normal sweat chloride concentration: case report

    Directory of Open Access Journals (Sweden)

    Silva Filho Luiz Vicente Ferreira da

    2003-01-01

    Full Text Available Cystic fibrosis is a genetic disease usually diagnosed by abnormal sweat testing. We report a case of an 18-year-old female with bronchiectasis, chronic P. aeruginosa infection, and normal sweat chloride concentrations who experienced rapid decrease of lung function and clinical deterioration despite treatment. Given the high suspicion ofcystic fibrosis, broad genotyping testing was performed, showing a compound heterozygous with deltaF508 and 3849+10kb C->T mutations, therefore confirming cystic fibrosis diagnosis. Although the sweat chloride test remains the gold standard for the diagnosis of cystic fibrosis, alternative diagnostic tests such as genotyping and electrophysiologic measurements must be performed if there is suspicion of cystic fibrosis, despite normal or borderline sweat chloride levels.

  2. 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." © 2015 Elsevier B.V. All rights reserved.

  3. Antenatal diagnosis of congenital deafness.

    Science.gov (United States)

    Isaacson, G

    1988-01-01

    Advances in the field of antenatal diagnosis have made possible the detection of profound sensorineural hearing loss prior to birth. Fetal motion in response to sound and auditory evoked potential testing can determine the presence of fetal hearing in the third trimester of pregnancy. Imaging modalities including ultrasound, computed tomography, and magnetic resonance imaging hold promise for the diagnosis of some forms of congenital deafness in the second trimester fetus. The methods by which congenital deafness soon may be diagnosed and the implications for the otologist are discussed.

  4. 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.)

  5. MRI of congenital urethroperineal fistula

    International Nuclear Information System (INIS)

    Ghadimi-Mahani, Maryam; Dillman, Jonathan R.; Pai, Deepa; DiPietro, Michael; Park, John

    2010-01-01

    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.)

  6. Ultrasound Imaging of Cystic Nephroma

    Directory of Open Access Journals (Sweden)

    Federico Greco

    2017-07-01

    Full Text Available Cystic nephroma is a rare, benign multicystic lesion of the kidney. This tumor occurs both in children and in adults. In children, it is highly prevalent in males; in adults, it is more frequent in women. The term “cystic nephroma” represents two apparently different entities: pediatric cystic nephroma, a benign form thought to originate from metanephric tissue, and adult cystic nephroma, considered as a lesion of mixed epithelial stromal tumor. The clinical presentation may be a palpable mass or nonspecific symptoms such as abdominal pain, hematuria, and urinary tract infections. In this review, we summarize the ultrasound imaging features of cystic nephroma and describe the characteristics of the most common renal cystic lesions and the differential diagnosis of cystic nephroma with other renal cystic lesions.

  7. Cystic fibrosis in adults

    Directory of Open Access Journals (Sweden)

    C. Damas

    2007-05-01

    Full Text Available The authors reviewed adult cystic fibrosis patients followed in the Pulmonology Unit from 1994-2004 (n = 8, five female and three male, aged 20-34 years old (median = 27 years. Patients were diagnosed at 18 months - 31 years old by sweat testing (positive in six patients and genotyping (four patients homozygous for ΔF508 mutation.Respiratory involvement was characterised by sinusitis and bronchiectasis. Pulmonary involvement was accompanied by functional abnormalities and gas exchange impairment in the majority of the patients. Bronchial tree was colonised permanently in five patients: Pseudomonas aeruginosa in four and Staphilococcus aureus in four (three patients affected by both agents simultaneously.The main causes of exacerbation were respiratory infections and haemoptysis.Non-respiratory involvement was variable. Four patients had digestive involvement (one with hepatic cirrhosis, one had renal failure and only one had a sperm count to document infertility. Four patients had osteopaenia.Treatment included chest physiotherapy, bronchodilators, dornase alfa, mucolytics, digestive enzymes, vitamins, antibiotics and oxygen therapy.At review, one had left follow-up, one had died, one was awaiting lung transplant and the others evidenced no difference in clinical characteristics.In this group of patients the severity of the pulmonary disease was not related to a late diagnosis. It can be explained by the diversity of cystic fibrosis presentation in adults Resumo: Os autores efectuaram uma revisão de doentes adultos com fibrose quística (FQ, seguidos na consulta de Pneumologia no período de 1994-2004 (n = 8: cinco mulheres e três homens, com idades compreendidas entre 20 e 34 anos (mediana  =  27 anos, cuja idade de diagnóstico variou entre os 18 meses e os 31 anos.O diagnóstico foi obtido por prova de suor (positiva em seis doentes e estudo genético (homozigotia para a mutação ΔF508 em

  8. 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. Copyright © 2016 Elsevier Inc. All rights reserved.

  9. Congenital diplopodia

    International Nuclear Information System (INIS)

    Brower, Jason S.; Wootton-Gorges, Sandra L.; Costouros, John G.; Boakes, Jennette; Greenspan, Adam

    2003-01-01

    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.)

  10. Mature cystic Theratome. Presentation of a case

    International Nuclear Information System (INIS)

    Rivera B, Aura Lucia; Carrillo B, Jorge Alberto; Ojeda L, Paulina

    2004-01-01

    The case of a patient of five months of age is presented, to which was diagnosed cystic theratome, initially was assisted in another institution to present consistent square of four days in dry cough and sialorrea. It was managed initially with pneumonia diagnosis and spill paraneumonic. The x-ray of initial thorax demonstrated an opacity committing the two inferior thirds of the left hemithorax, with obliteration of the costofrenic angle and contralateral deviation of the cardio mediastinum, later on another thorax x-ray to the entrance with diagnostic impression of sepsis of lung origin and pneumonia suspicion with spill associate pleural, was practiced closed thoracotomy, obtaining 60 cc of sallow liquid. For the persistence of the opacity basal left in the control x-ray, he was practiced thorax tomography. For the presence of multiple densities and the localization of the lesion it outlines the possibility of cystic theratome

  11. Mature Cystic Renal Teratoma

    International Nuclear Information System (INIS)

    Yavuz, Alpaslan; Ceken, Kagan; Alimoglu, Emel; Akkaya, Bahar

    2014-01-01

    Teratomas are rare germline tumors that originate from one or more embryonic germ cell layers. Teratoma of the kidney is extremely rare, and less than 30 cases of primary intrarenal teratomas have been published to date. We report the main radiologic features of an unusual case of mature cystic teratoma arising from the left kidney in a two-year-old boy. A left-sided abdominal mass was detected on physical examination and B-Mod Ultrasound (US) examination revealed a heterogeneous mass with central cystic component. Computed tomography (CT) demonstrated a lobulated, heterogeneous, hypodense mass extending craniocaudally from the splenic hilum to the level of the left iliac fossa. Nephrectomy was performed and a large, fatty mass arising from the left kidney was excised. The final pathologic diagnosis was confirmed as cystic renal teratoma

  12. Congenital toxoplasmosis.

    Science.gov (United States)

    Kieffer, François; Wallon, Martine

    2013-01-01

    Congenital toxoplasmosis results from the transplacental transmission of the parasite Toxoplasma gondii after a maternal infection acquired in pregnancy. Prevalence of congenital infection ranges from 0.1 to 0.3 per 1000 live births. The maternal-fetal transmission rate increases with gestational age at maternal seroconversion, from less than 15% at 13 weeks of gestation to over 70% at 36 weeks. Conversely, the later the maternal infection, the lower the risk of symptomatic congenital infection (infections acquired during the third trimester are most often asymptomatic at birth). Prenatal diagnosis is currently performed by PCR analysis in amniotic fluid. Antenatal management and treatment vary considerably among countries. In some European countries, maternal infections are detected through serological screening allowing a prompt treatment with spiramycin, which is expected to reduce the risk of vertical transmission. If PCR analysis in amniotic fluid is positive or if maternal infection was acquired in the third trimester of pregnancy, a combination with pyrimethamine and sulphonamide is given until delivery. Benefits of antenatal treatments remain controversial. Infected newborns are prescribed pyrimethamine and sulphonamide for 12 months. Despite antenatal and postnatal treatment, chorioretinitis can occur at any age (prevalence>20% at 10 years of age): long-term ophthalmological follow-up remains necessary. Copyright © 2013 Elsevier B.V. All rights reserved.

  13. 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...

  14. Usefulness of fetal MR imaging for congenital urological anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Akasaka, Yoshinobu; Sugimura, Kazuro [Kobe Univ. (Japan). Graduate School of Medicine; Kanegawa, Kimio [Kobe Children' s Hospital (Japan)

    2002-04-01

    Despite the fact that congenital urological anomalies are not rare, the role of fetal MRI in these disorders has not been well defined. We evaluated the usefulness of MRI in the prenatal diagnosis of patients with such anomalies. A total of 23 cases were included in this study. The 23 cases were divided as follows: 7 cases of bilateral renal agenesis or severe hypogenesis (Potter sequence: PS), 8 cases of multicystic dysplastic kidney (2 cases were bilateral: MCDK), 5 cases of hydronephrosis (HN), one case of hydroureteronephrosis (HUN) and 2 cases of HN or HUN with duplication (DUP). In this study the scan time for fetal MRI was approximately 30 seconds for one sequence. Overall, the diagnostic accuracy was 65.2%; 85.2% for PS, 87.5% for MCDK, 60.0% for HN, 50.0% for HUN and 0% for DUP. Even though imaging quality was relatively poor for motion artifact in this series, we were able to diagnose PS and MCDK because of associated lung hypoplasia and its characteristic shape. The diagnosis of HN, HUN and DUP was difficult. HN was sometimes misdiagnosed as a retroperitoneal cystic mass because the dilation of calices was obscured in severe cases. In HUN and DUP cases dilation of the ureter was unclear. However, using HASTE or true FISP sequence may solve this problem. Based on this data, we conclude that fetal MRI is useful for prenatal diagnosis of urological anomalies. (author)

  15. Japanese family with congenital factor VII deficiency.

    Science.gov (United States)

    Sakakibara, Kanae; Okayama, Yoshiki; Fukushima, Kenji; Kaji, Shunsaku; Muraoka, Michiko; Arao, Yujiro; Shimada, Akira

    2015-10-01

    Congenital factor VII (FVII) deficiency is a rare bleeding disorder with autosomal recessive inheritance. The present female patient was diagnosed with congenital FVII deficiency because of low hepaplastin test (HPT), although vitamin K was given. Heterozygous p.A191T mutation was detected in the peripheral blood, and the same mutation was also found in the mother and sister. To the best of our knowledge, this is the fourth reported case of p.A191T mutation of FVII in the literature and the first to be reported in Japan. FVII coagulation activity (FVII:C) in asymptomatic heterozygous carriers is mildly reduced. Therefore, some patients may not be accurately diagnosed with congenital FVII deficiency. In infants with low HPT without vitamin K deficiency, congenital FVII deficiency should be considered. © 2015 Japan Pediatric Society.

  16. Thyroid nodules with minimal cystic changes have a low risk of malignancy

    International Nuclear Information System (INIS)

    Na, Dong Gyu; Kim, Dae Sik; Kim, Soo Jin; Kim, Ji Hoon

    2016-01-01

    The goal of this study was to determine the risk of malignancy of thyroid nodules with minimal cystic changes. A total of consecutive 1,000 thyroid nodules (≥1 cm) with final diagnoses from two institutions were included in this study. The risk of malignancy of thyroid nodules was analyzed according to the internal content, which was categorized as purely solid, minimally cystic (cystic changes ≤10%), and partially cystic (cystic changes >10%). We also assessed the risk of malignancy of nodules with minimal cystic changes depending on echogenicity and presence of any suspicious ultrasonografic (US) features. The overall frequency of purely solid, minimally cystic, and partially cystic nodules was 730/1,000 (73%), 61/1,000 (6.1%), and 209/1,000 (20.9%), respectively, with risks of malignancy of 14.8% (108/730), 3.3% (2/61), and 3.3% (7/209), respectively. The risk of malignancy of nodules with minimal cystic changes was significantly lower than that of purely solid nodules (P=0.013). The risk of malignancy of nodules with minimal cystic changes was also lower than that of purely solid nodules in the group of hypoechoic nodules (P=0.063) and in the group of nodules with suspicious US features (P=0.028), but was not significantly different from that of partially cystic nodules regardless of echogenicity or the presence of suspicious US features (P≥0.652). Thyroid nodules with minimal cystic changes have a low risk of malignancy, similar to that of partially cystic nodules regardless of echogenicity or the presence of suspicious US features. The US lexicon could define solid nodules as nodules with purely solid internal content in order to enhance the accuracy of estimated risks of malignancy

  17. Huge cystic craniopharyngioma. Changes of cyst density on computed tomography

    Energy Technology Data Exchange (ETDEWEB)

    Takamura, Seishi; Fukumura, Akinobu; Ito, Yoshihiro; Itoyama, Yoichi; Matsukado, Yasuhiko

    1986-06-01

    The findings of computed tomography (CT) of a huge cystic craniopharyngioma in a 57-year-old woman are described. Cyst density varied from low to high levels in a short duration. Follow-up CT scans were regarded as important to diagnose craniopharyngioma. The mechanism of increment of cyst density was discussed.

  18. Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient

    International Nuclear Information System (INIS)

    Lu, Hui; Zeng, Bing Hui; Yu, Dong Sheng; Jing, Xiang Yi; Hu, Bin; Zhao, Wei; Wang, Yi Ming

    2015-01-01

    Cleidocranial dysplasia (CCD) is a rare congenital disorder, typically characterized by persistently open skull sutures, aplastic or hypoplastic clavicles, and supernumerary teeth. Mutations in the gene encoding the runt-related transcription factor 2 (RUNX2) protein are responsible for approximately two thirds of CCD patients. We report a 20-year-old CCD patient presenting not only with typical skeletal changes, but also complex dental anomalies. A previously undiagnosed odontoma, 14 supernumerary teeth, a cystic lesion, and previously unreported fused primary teeth were discovered on cone-beam computed tomography (CBCT) scans. Mutation analysis identified the causal c.578G>A (p.R193Q) mutation in the RUNX2 gene. At 20 years of age, the patient had already missed the optimal period for dental intervention. This report describes the complex dental anomalies in a belatedly diagnosed CCD patient, and emphasizes the significance of CBCT assessment for the detection of dental anomalies and the importance of early treatment to achieve good outcomes

  19. Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient

    Energy Technology Data Exchange (ETDEWEB)

    Lu, Hui; Zeng, Bing Hui; Yu, Dong Sheng; Jing, Xiang Yi; Hu, Bin; Zhao, Wei; Wang, Yi Ming [Sun Yat-Sen University, Guangzhou (China)

    2015-09-15

    Cleidocranial dysplasia (CCD) is a rare congenital disorder, typically characterized by persistently open skull sutures, aplastic or hypoplastic clavicles, and supernumerary teeth. Mutations in the gene encoding the runt-related transcription factor 2 (RUNX2) protein are responsible for approximately two thirds of CCD patients. We report a 20-year-old CCD patient presenting not only with typical skeletal changes, but also complex dental anomalies. A previously undiagnosed odontoma, 14 supernumerary teeth, a cystic lesion, and previously unreported fused primary teeth were discovered on cone-beam computed tomography (CBCT) scans. Mutation analysis identified the causal c.578G>A (p.R193Q) mutation in the RUNX2 gene. At 20 years of age, the patient had already missed the optimal period for dental intervention. This report describes the complex dental anomalies in a belatedly diagnosed CCD patient, and emphasizes the significance of CBCT assessment for the detection of dental anomalies and the importance of early treatment to achieve good outcomes.

  20. Cystic tumours of the pancreas

    Energy Technology Data Exchange (ETDEWEB)

    Itai, Y. [Dept. of Radiology, Inst. of Clinical Medicine, Tsukuba Univ. (Japan); Ohtomo, K. [Univ. of Tokyo Hospital, Tokyo (Japan)

    1996-12-01

    In this pictorial essay we present the typical appearances of cystic pancreatic tumours, the wide spectrum of their features, and differential features among cystic pancreatic masses with an emphasis on CT. Pseudocysts are the most common cystic lesion in the pancreas and can be induced by pancreatitis, trauma or surgery. Pseudocysts appear as a round cystic mass with a definite wall. However, they can mimic cystic tumours associated with internal septation and/or necrotic mass of various shapes. Conversely, cystic tumours can appear as a simple cyst lacking any thickening of wall, septation or mural nodule. Pancreatic carcinoma not infrequently induces secondary cysts upstream of the obstructed pancreatic duct. The cysts are pseudocysts or retention cysts in nature. When cysts are formed in the pancreatic parenchyma or adjacent to pancreatic carcinoma they may mimic cystic tumour. (orig./VHE)

  1. Cystic tumours of the pancreas

    International Nuclear Information System (INIS)

    Itai, Y.; Ohtomo, K.

    1996-01-01

    In this pictorial essay we present the typical appearances of cystic pancreatic tumours, the wide spectrum of their features, and differential features among cystic pancreatic masses with an emphasis on CT. Pseudocysts are the most common cystic lesion in the pancreas and can be induced by pancreatitis, trauma or surgery. Pseudocysts appear as a round cystic mass with a definite wall. However, they can mimic cystic tumours associated with internal septation and/or necrotic mass of various shapes. Conversely, cystic tumours can appear as a simple cyst lacking any thickening of wall, septation or mural nodule. Pancreatic carcinoma not infrequently induces secondary cysts upstream of the obstructed pancreatic duct. The cysts are pseudocysts or retention cysts in nature. When cysts are formed in the pancreatic parenchyma or adjacent to pancreatic carcinoma they may mimic cystic tumour. (orig./VHE)

  2. Cystic Odontoma in a Patient with Hodgkin’s Lymphoma

    Directory of Open Access Journals (Sweden)

    Victor Costa

    2015-01-01

    Full Text Available Cystic odontoma is a rare entity, which is characterized by the association of a cyst with complex/compound odontoma. The aim of this study was to report the case of a 5-year-old male patient diagnosed previously with Hodgkin’s lymphoma and treated successfully with chemotherapy and radiotherapy, who developed a mandibular odontogenic lesion. Physical examination revealed a swelling on the right side of the mandible. Radiographically, a well-defined radiolucent area surrounded by radiopaque material was observed. An incisional biopsy was performed and microscopic analysis showed a cystic lesion consisting of an atrophic epithelium comprising 2-3 cell layers and the absence of inflammation in the cystic capsule. The cyst was decompressed and the lesion was removed after 3 months of follow-up. Microscopic analysis of the surgical specimen showed a cystic hyperplastic epithelium surrounded by an intense chronic inflammatory cell infiltrate, which was in close contact with mineralized tissue resembling dentin and cementum. The final diagnosis was cystic odontoma. Since chemotherapy can affect the growth and development of infant teeth, a relationship between chemotherapy-associated adverse events and cystic odontoma is suggested in the present case.

  3. Partially Cystic Thyroid Nodules: Ultrasound Findings of Malignancy

    Energy Technology Data Exchange (ETDEWEB)

    Park, Jang Mi; Choi, Yoon Jung; Kwag, Hyon Joo [Dept. of Radiology, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2012-09-15

    To seek for the ultrasound (US) findings of partially cystic thyroid nodules that are associated with malignancy. We reviewed the US characteristics of 22 surgically confirmed partially cystic papillary carcinomas, and compared them with those of 80 benign partially cystic nodules. The review cases were selected in a random order from a total of 1029 partially cystic nodules that were diagnosed with an US-guided fine needle aspiration biopsy over a period of 8 years (June 2003 to October 2010) at our institution. In partially cystic thyroid nodules, a taller-than-wide shape (100%, p<0.001) and spiculated or microlobulated margin (58.3%, p 0.003) were significantly associated with malignancy. In terms of internal solid portion of the nodule, eccentric configuration (68.0%, p<0.001), non-smooth margin (81.3%, p<0.001), hypoechogenecity (30.0%, p<0.042), and microcalcification (89.5%, p<0.001) were more frequently demonstrated in malignant nodules than benign ones. In partially cystic thyroid nodules, understanding the characteristics of US findings is important to make a precise diagnosis of malignant nodules.

  4. 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.

  5. The role of daily physical activity and nutritional status on bone turnover in cystic fibrosis: a cross-sectional study

    OpenAIRE

    Tejero,Sergio; Cejudo,Pilar; Quintana-Gallego,E.; Sañudo,Borja; Oliva-Pascual-Vaca,A.

    2016-01-01

    ABSTRACT Background Nutritional status and daily physical activity (PA) may be an excellent tool for the maintenance of bone health in patients with cystic fibrosis (CF). Objective To evaluate the relationship between nutritional status, daily physical activity and bone turnover in cystic fibrosis patients. Method A cross-sectional study of adolescent and adult patients diagnosed with clinically stable cystic fibrosis was conducted. Total body, femoral neck, and lumbar spine bone mineral d...

  6. Giant abdominal cystic lymphangioma

    International Nuclear Information System (INIS)

    Vazquez, V.; Florencio, I.; Boluda, F.

    1996-01-01

    We present a case of giant abdominal cystic lymphangioma in a 10-year-old boy. Despite numerous consultations with physicians to identify the underlying problem, it had originally been attributed to ascites of unknown cause. We review the characteristics of this lesion and the diagnostic features that aid in differentiating it from ascites

  7. Cystic hemispheric medulloepithelioma

    African Journals Online (AJOL)

    2015-12-09

    Dec 9, 2015 ... A right parieto-occipital craniotomy with subtotal resection was performed. Histological sections. (Figure 3) showed a primitive neuro-ectodermal tumour with a heterogeneous appearance and cystic change. Areas of primitive embryonal cells alternated with areas showing trabecular, papillary and.

  8. Congenital syphilis

    International Nuclear Information System (INIS)

    Lee, Sang Wook; Kim, Kyung Soo; Hur, Don

    1983-01-01

    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%)

  9. Adult-onset cystic hygroma: A case report of rare entity.

    Science.gov (United States)

    Bahl, Sumit; Shah, Vandana; Anchlia, Sonal; Vyas, Siddharth

    2016-01-01

    Cystic hygroma is a benign congenital malformation of the lymphatic system that occurs in infant or children younger than 2 years of age. Although cystic hygroma is well recognized in pediatric practice, it seldom presents de novo in adulthood. These are commonly present in head and neck but can be present anywhere. Cystic hygroma is very rare in adults, but it should be considered in the differential diagnosis of adult neck swellings. Patients presenting with a painless, soft, fluctuant, and enlarging neck mass should have a careful history and physical examination along with radiological imaging to assist with diagnosis. Surgical intervention is the treatment of choice for this rare condition. Here, we are reporting a case of cystic hygroma in a 32-year-old male patient in the neck region. The objectives of this case report are to discuss the clinical presentation, diagnosis, histopathological findings and management of this malformation.

  10. Prenatal intestinal volvulus: look for cystic fibrosis.

    Science.gov (United States)

    Chouikh, Taieb; Mottet, Nicolas; Cabrol, Christelle; Chaussy, Yann

    2016-12-21

    Intestinal volvulus is a life-threatening emergency requiring prompt surgical management. Prenatal intestinal volvulus is rare, and most are secondary to intestinal atresia, mesenteric defect or without any underlying cause. Cystic fibrosis (CF) is known to cause digestive tract disorders. After birth, 10-15% of newborns with CF may develop intestinal obstruction within a few days of birth because of meconial ileus. 1 This obstruction is a result of dehydrated thickened meconium obstructing the intestinal lumen. We report two cases of fetuses with prenatal diagnosis of segmental volvulus in whom CF was diagnosed. 2016 BMJ Publishing Group Ltd.

  11. [3.0 T MRI with a high resolution protocol for the study of benign disease of the anus and rectum. Part one: High resolution protocol for 3.0 T MRI, anatomic review, benign tumors, and congenital or acquired alterations of the sphincter complex].

    Science.gov (United States)

    Herráiz Hidalgo, L; Cano Alonso, R; Carrascoso Arranz, J; Álvarez Moreno, E; Martínez de Vega Fernández, V

    2014-01-01

    Benign anorectal disease comprises a broad group of processes with very diverse origins; these processes may be congenital or acquired as well as inflammatory or tumor related. However, benign anorectal disease has received less attention in the scientific literature than malignant disease. We present an image-based review of the most common benign diseases of the anus and rectum. In this first part, we review the anatomy of the region and provide a brief description of the peculiarities of the high resolution protocol that we use with 3.0 T MRI. We go on to describe the most common benign anorectal tumors and developmental cystic lesions, together with their differential diagnoses, as well as congenital and acquired anomalies of the anorectal sphincter complex. Copyright © 2011 SERAM. Published by Elsevier Espana. All rights reserved.

  12. 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.)

  13. Congenital extrahepatic portosystemic shunts

    International Nuclear Information System (INIS)

    Murray, Conor P.; Yoo, Shi-Joon; Babyn, Paul S.

    2003-01-01

    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.)

  14. Congenital amusia.

    Science.gov (United States)

    Williamson, Victoria J; Stewart, Lauren

    2013-01-01

    For most people, music, like language, is acquired effortlessly in early life. But a few percent of the population have lifelong difficulties in the perception and production of music. In this chapter we discuss psycho-acoustic and behavioral studies that have attempted to delineate the nature of the auditory perceptual deficits in this group and consider whether these difficulties extend outside the musical domain. Finally, we review structural imaging studies in this group which point to subtle anomalies in temporal and frontal areas. We suggest that amusia can be considered a disorder of neural development, which has relatively specific consequences at the behavioral level. Studies of congenital amusia provide a unique window on the neurocognitive architecture of music processing. Copyright © 2013 Elsevier B.V. All rights reserved.

  15. Diagnosing Flu

    Science.gov (United States)

    ... Types Seasonal Avian Swine Variant Pandemic Other Diagnosing Flu Questions & Answers Language: English (US) Español Recommend on ... How do I know if I have the flu? Your respiratory illness might be the flu if ...

  16. Adult Congenital Heart Disease with Focus on Pregnancy

    NARCIS (Netherlands)

    T.P.E. Ruys (Titia)

    2013-01-01

    textabstractThe prevalence of Congenital Heart Disease (CHD) has been described to be 8,2 per 1000 live births in European countries.(1) Congenital heart disease is a collective term for a large number of different diagnoses with different anatomical substrate, complexity and prognosis. The most

  17. Mental and Behavioral Disorders among People with Congenital Deafblindness

    Science.gov (United States)

    Dammeyer, Jesper

    2011-01-01

    The population of people with congenital deafblindness faces challenges concerning communication and mobility. Due to the significance of the sensory loss it is difficult to diagnose mental and behavioral disorders. This article investigates the prevalence of mental and behavioral disorders among 95 congenitally deafblind adults. Seventy-four…

  18. Cystic pulmonary hydatidosis

    Directory of Open Access Journals (Sweden)

    Malay Sarkar

    2016-01-01

    Full Text Available Cystic echinococcosis (CE is a zoonotic parasitic disease caused by the larval stages of the cestode Echinococcus granulosus. Worldwide, pulmonary hydatid cyst is a significant problem medically, socially, and economically. Surgery is the definitive therapy of pulmonary hydatidosis. Benzimidazoles may be considered in patients with a surgical contraindication. This review will focus on pathogenesis, lifecycle, clinical features, and management of pulmonary hydatid disease.

  19. Night blindness in a teenager with cystic fibrosis.

    LENUS (Irish Health Repository)

    Roddy, Marie Frances

    2011-12-01

    This article describes the case of a 16-year-old boy with cystic fibrosis who presented with difficulty seeing in the dark. He had a history of bowel surgery at birth, and he developed cystic fibrosis liver disease and osteopenia during his teenage years. He always had good lung function. When his serum vitamin A level was checked, it was undetectable in sample. He was diagnosed with night blindness and commenced on high-dose vitamin A. His symptoms resolved within 3 days. However, it took over 1 year for his vitamin A level to return to normal. This case emphasizes the importance of monitoring vitamin levels in cystic fibrosis to detect deficiency and prevent long-term consequences, and it highlights the challenges encountered during the course of night blindness treatment.

  20. An atypical presentation of cystic fibrosis: a case report

    Directory of Open Access Journals (Sweden)

    Joshi Deepak

    2008-06-01

    Full Text Available Abstract Introduction The presentation of cystic fibrosis is dependant upon which organs are affected. Common presentations include chronic respiratory infections and malabsorption. Patients with atypical disease tend to present late in childhood or as adults. Eye manifestations of cystic fibrosis are less well known. Case presentation A 14-year-old Caucasian boy presented with tiredness and difficulty seeing at night, over a period of 6 months. Good vision was only described in bright conditions. There was no history of jaundice, steatorrhea or diarrhoea. Conclusion This is the first reported case of newly diagnosed cystic fibrosis-related liver disease in a teenage boy, whose presenting symptom was night blindness secondary to vitamin A deficiency.

  1. Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome.

    Science.gov (United States)

    Matsunoshita, Natsuki; Nozu, Kandai; Yoshikane, Masahide; Kawaguchi, Azusa; Fujita, Naoya; Morisada, Naoya; Ishimori, Shingo; Yamamura, Tomohiko; Minamikawa, Shogo; Horinouchi, Tomoko; Nakanishi, Keita; Fujimura, Junya; Ninchoji, Takeshi; Morioka, Ichiro; Nagase, Hiroaki; Taniguchi-Ikeda, Mariko; Kaito, Hiroshi; Iijima, Kazumoto

    2018-05-30

    Pseudo-Bartter/Gitelman syndrome (p-BS/GS) encompasses a clinically heterogeneous group of inherited or acquired disorders similar to Bartter syndrome (BS) or Gitelman syndrome (GS), both renal salt-losing tubulopathies. Phenotypic overlap frequently occurs between p-BS/GS and BS/GS, which are difficult to diagnose based on their clinical presentation and require genetic tests for accurate diagnosis. In addition, p-BS/GS can occur as a result of other inherited diseases such as cystic fibrosis, autosomal dominant hypocalcemia, Dent disease, or congenital chloride diarrhea (CCD). However, the detection of the variants in genes other than known BS/GS-causing genes by conventional Sanger sequencing requires substantial time and resources. We studied 27 cases clinically diagnosed with BS/GS, but with negative genetic tests for known BS/GS genes. We conducted targeted sequencing for 22 genes including genes responsible for tubulopathies and other inherited diseases manifesting with p-BS/GS symptoms. We detected the SLC26A3 gene variants responsible for CCD in two patients. In Patient 1, we found the SLC26A3 compound heterozygous variants: c.354delC and c.1008insT. In Patient 2, we identified the compound heterozygous variants: c.877G > A, p.(Glu293Lys), and c.1008insT. Our results suggest that a comprehensive genetic screening system using targeted sequencing is useful for the diagnosis of patients with p-BS/GS with alternative genetic origins.

  2. Prenatal Diagnosis of Congenital Cystic Adenomatoid Malformations: Evolution and Outcome

    Directory of Open Access Journals (Sweden)

    Wei-Shiu Chen

    2009-09-01

    Conclusion: The outcomes of the prenatally detected CCAMs were good in our cases. If the CCAM is not complicated by hydrops fetalis, maintaining the pregnancy with continuing management seems to be a reasonable recommendation. Despite antenatal resolution of CCAM on ultrasound, postnatal examination with chest radiography and computed tomography scan is necessary.

  3. [Prevalence of diseases diagnosed by the Program of Neonatal Screening in Maringá, Paraná, Brazil: 2001-2006].

    Science.gov (United States)

    Luz, Geisa dos Santos; Carvalho, Maria Dalva de Barros; Pelloso, Sandra Marisa; Higarashi, Ieda Harumi

    2008-09-01

    Irreversible sequels of some genetic diseases can be prevented by neonatal screening. The aim of this paper was to verify the prevalence of diseases diagnosed by the National Program of Neonatal Screening (PNTN) in Maringá, Paraná, Brazil, between 2001 and 2006. This cross-sectional descriptive study included 20,529 newborn infants screened by that program. Out of those, 859 were re-examined, and 21 had the disease confirmed. Considering all screened newborn infants and the number of diagnostics per disease, the following disease prevalence was determine: phenylketonuria--1:20,529; congenital hypothyrodism--1:2,281; hemoglobinopahies--1:3,421; cystic fibrosis--1:10,264; and biotinidase deficiency--1:6,843. Understanding disease status and prevalence of newborns in a population allows the establishment and the improvement of public policies aimed at the children.

  4. Biventricular heart failure secondary to a pericardial cystic mass: case report

    Energy Technology Data Exchange (ETDEWEB)

    Nizzero, A. [Sudbury Regional Hospital, Dept. of Diagnostic Imaging, Sudbury, Ontario (Canada); Dobranowski, J. [St. Joseph' s Hospital, Dept. of Radiology, Hamilton, Ontario (Canada); Tanser, P. [St. Joseph' s Hospital, Dept. of Cardiology, Hamilton, Ontario (Canada)

    2000-07-01

    Cystic masses of the pericardium causing symptoms due to cardiac compression are very unusual. Such cysts may be congenital, or they may occur secondary to inflammatory processes or hemorrhage, similar to cysts seen in the pleura or peritoneum. Echocardiography, computed tomography (CT) and magnetic resonance imaging (MRI) are useful for noninvasive investigation of the pericardium, although in the remote past, definitive diagnosis was possible only with thoracotomy. We present a case of biventricular cardiac failure secondary to a calcified pericardial cystic mass in a patient with constrictive pericarditis. Because of the extensive calcification, echocardiography was not helpful. CT and MRI allowed excellent delineation of the nature and effects of this abnormality. (author)

  5. 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.

  6. Etiological evaluation of primary congenital hypothyroidism cases.

    Science.gov (United States)

    Bezen, Diğdem; Dilek, Emine; Torun, Neşe; Tütüncüler, Filiz

    2017-06-01

    Primary congenital hypothyroidism is frequently seen endocrine disorder and one of the preventable cause of mental retardation. Aim of study was to evaluate the frequency of permanent/transient hypothyrodism, and to detect underlying reason to identfy any marker which carries potential to discriminate permanent/transient form. Forty eight cases older than 3 years of age, diagnosed as primary congenital hypothyroidism and started thyroxin therapy in newborn-period, and followed up between January 2007-June 2013 were included in the study. Thyroid hormon levels were evaluated and thyroid ultrasonography was performed in cases who are at the end of their 3 years of age, after 6 weeks of thyroxine free period. Thyroid sintigraphy was performed if serum thyroid-stimulating hormone was high (≥ 5 mIU/mL) and perchlorate discharge test was performed if uptake was normal or increased on sintigraphy. Cases with thyroid-stimulating hormone levels ≥ 5 mIU/mL were defined as permanent primary congenital hypothyroidism group and as transient primary congenital hypothyroidism group with normal thyroid hormones during 6 months. The mean age was 3.8±0.7 years. Mean diagnosis age was 16.6±6.5 days and 14 cases (29.2%) were diagnosed by screening program of Ministry of Health. There were 23 cases (14F, 9M) in permanent primary congenital hypothyroidism group and 12 (52.2%) of them were dysgenesis (8 hypoplasia, 4 ectopia), and 11 (47.8%) dyshormonogenesis. In transient primary congenital hypothyroidism group, there were 25 cases (17M, 8F). The mean thyroid-stimulating hormone levels at diagnosis were similar in two groups. The mean thyroxin dose in permanent primary congenital hypothyroidism group was significantly higher than transient group at the time of thyroxin cessation (2.1±0.7, 1.5±0.5 mg/kg/d, respectively, p=0.004). Thyroxin dose ≥1.6 mcg/kg/d was 72% sensitive and 69.6% specific for predicting permenant primary congenital hypothyroidism. Transient primary

  7. [Cystic fibrosis--initial diagnosis in a 39-year-old patient].

    Science.gov (United States)

    Bargon, J; Rickmann, J; Jacobi, V; Straub, R; Arnemann, J; Wagner, T O

    2000-12-15

    Cystic fibrosis is the most common hereditary disorder among Caucasians. Most of the patients are diagnosed as children. However, some cases are going undiagnosed into adulthood and are then often misdiagnosed because the non-pediatricians do not know cystic fibrosis very well and do not consider this diagnosis in adult patients. We present the medical history of a woman, who was diagnosed with cystic fibrosis at the age of 39 years, although she had suffered from bronchiectasis, pancreatic insufficiency and liver cirrhosis since many years. Her medical history was long with some diagnosis, but because of her age nobody considered the final diagnosis. In adult patients with bronchiectasis, liver cirrhosis and pancreatic insufficiency in combination or with only one of these symptoms, cystic fibrosis should be included into the differential diagnosis.

  8. [Congenital hypothyroidism].

    Science.gov (United States)

    Castilla Peón, María Fernanda

    Congenital hypothyroidism (CH) is a cause of preventable mental retardation; therefore, timely diagnosis and treatment by the primary care physician is very important. CH screening must be performed between the second and fifth days of life with capillary blood done with a heel prick and must be confirmed by measurement of thyroid hormones in venous blood. The most common cause of CH is thyroid dysgenesis, which may be identified by a thyroid scan carried out before initiating treatment. Treatment should be with levothyroxine (10-15μg/kg/day) and should not be delayed or suspended during the first 3 years of life due to the deleterious effect on neurodevelopment in case of low thyroid hormones during this time. Preterm or sick infants or those with Down syndrome require special consideration. This article provides diagnostic and therapeutic algorithms for CH. Copyright © 2015 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  9. CT appearance of congenital defect resembling the Hangman's fracture

    International Nuclear Information System (INIS)

    Williams, J.P. III; Baker, D.H.; Miller, W.A.

    1999-01-01

    Purpose. Congenital defects of C2 are rare and can be confused with Hangman's fractures. CT has been advocated as aiding in differentiation between an acute fracture and congenital defects. Methods. We present a case of a 2-year-old recent accident victim, who was erroneously diagnosed by plain film and CT as having a Hangman's fracture. Results. The CT demonstrated an atypical appearance of a congenital defect. Conclusion. This case shows that the radiographic differentiation between a Hangman's fracture and a congenital defect is more difficult than previously described. (orig.)

  10. Congenital CMV Infection, An imaging perspective: A case report.

    Directory of Open Access Journals (Sweden)

    Dr. Nikunj Patel

    2017-12-01

    Full Text Available Brain imaging is most important tool for the accurate diagnosis of various congenital CNS infections. Infections of the foetal nervous system results in spectrum of findings that depends upon the inciting agent and the timing of infection. As a general rule earlier the infection, more severe are the findings. Congenital CMV infection can be diagnosed with accuracy with its specific features identified on brain imaging. We present a case of congenital CMV infection in an 8-months-old boy, its clinical presentation, imaging findings and laboratory reports. Specific literature review is included in order to point out major goals achieved in the diagnosis and prognosis of congenital CMV infection.

  11. Helical CT of congenital ossicular anomalies

    International Nuclear Information System (INIS)

    Osada, Hisato; Machida, Kikuo; Honda, Norinari

    2001-01-01

    Since January 1996 to December 2000, 26 cases of congenital ossicular anomaly could be diagnosed with helical CT. All cases were unilateral. In 8 patients with malformation of the external ear, CT showed malleoincudal fixation (n=5), malleoincudal fixation and deformed incuts long process (n=1), deformed incus long process (n=1), and partial fusion of malleus neck and incus long process (n=1). In 18 patients with normal external ear, CT showed defect of the incus long process (n=5), defect of both the incus long process and stapes superstructure (n=8, 2 patients with congenital cholesteatoma, 1 with hypoplastic oval window), defect of the stapes superstructure (n=2, 1 patient with oval window absence), defect of the malleus manubrium (n=1), ossification of the stampede's tendon (n=1), and monopod stapes (n=1). Helical CT can evaluate the auditory ossicular chain in detail and is useful for diagnosing congenital ossicular anomaly. (author)

  12. Perinatal assessment of hereditary cystic renal diseases: the contribution of sonography

    Energy Technology Data Exchange (ETDEWEB)

    Avni, Fred E.; Cassart, Marie; Massez, Anne [Erasme Hospital, Department of Medical Imaging, Brussels (Belgium); Garel, Laurent [Sainte Justine Hospital, Department of Paediatric Imaging, Montreal, Quebec (Canada); Eurin, Daniele [Charles Nicolle Hospital, Department of Paediatric Imaging, Rouen (France); Didier, Francois [A. Pinard Regional Maternity Hospital, Department of Paediatric Imaging, Nancy (France); Hall, Michelle [Erasme Hospital, Department of Pediatric Nephrology, Brussels (Belgium); Teele, Rita L. [Starship Children' s Hospital, Department of Radiology, Auckland (New Zealand)

    2006-05-15

    The aims of this review article were to clarify the steps that may lead to a proper diagnosis of fetal and neonatal renal cystic diseases. All the hereditary cystic diseases are reviewed and a classification is proposed. The various sonographic patterns that can be used to ascertain the diagnosis are also reviewed. Finally, tables with differential diagnoses are presented to help the reader in the work-up of such pathologies. (orig.)

  13. Cystic Fibrosis-Related Diabetes in Adults: Where Can We Go From Here?

    OpenAIRE

    de Valk, Harold W.; van der Graaf, Eduard A.

    2007-01-01

    Cystic fibrosis (CF), a dysfunction of the exocrine glands, is one of the most frequently diagnosed genetic diseases. It is characterized by chronic pulmonary disease and pancreatic deficiency. Cystic fibrosis-related diabetes (CFRD) is a complication of CF and develops from impaired glucose tolerance via postprandial hyperglycemia with fasting normoglycemia to full-blown diabetes with fasting and postprandial hyperglycemia. CFRD is related to decreased life expectancy, most notably in female...

  14. Antenatal diagnosis of the congenital craniopharyngioma

    International Nuclear Information System (INIS)

    Jurkiewicz, E.; Bekiesinska-Figatowska, M.; Duczkowski, M.; Grajkowska, W.; Roszkowski, M.; Czech-Kowalska, J.; Dobrzanska, A.

    2010-01-01

    Background: Craniopharyngioma is a rare fetal and neonatal tumor. Case Report: We report a case of a congenital craniopharyngioma diagnosed by prenatal magnetic resonance. This diagnosis was confirmed by postnatal MR imaging, neurosurgical treatment and histopathological examination. Conclusions: Outcome of neonatal craniopharyngioma is very poor, even if radical surgery is performed. The main problems are pituitary insufficiency, diabetes insipidus, and visual disturbance. (authors)

  15. Underdiagnosis of Mild Congenital Anorectal Malformations

    NARCIS (Netherlands)

    Jonker, Jara E.; Trzpis, Monika; Broens, Paul M. A.

    Objective: To determine whether the frequency and severity of congenital anorectal malformations (CARMs) differs by sex. Study design: We included 129 patients (0-319 weeks old) diagnosed with CARMs, who had been referred to our Department of Pediatric Surgery between 2004 and 2013. Rectoperineal

  16. Imaging from cystic fibrosis

    International Nuclear Information System (INIS)

    Schmidt, H.; Posselt, H.G.

    2008-01-01

    Cystic fibrosis (CF) is the most frequent metabolic disorder with autosomal recessive inheritance in the Caucasian population. The gene defect is located on the long arm of chromosome 7. In Germany today, the actual median survival is 37 years. The genetic defect caused by chloride anion disturbances affects multiple body systems but the morbidity and mortality is due to lung disease. The secretion of highly viscous mucus promotes viral and bacterial pulmonary infections leading to airway obstruction and consecutive destruction of the lung parenchyma. This article will review and discuss both the clinical aspects of the disease and the diagnostic methods, referring in particular to new imaging strategies. (orig.)

  17. A correlation study of diagnostic fine-needle aspiration with histologic diagnosis in cystic neck lesions.

    Science.gov (United States)

    Moatamed, Neda A; Naini, Bita V; Fathizadeh, Payman; Estrella, Julie; Apple, Sophia K

    2009-10-01

    The clinical diagnosis of a mass in the neck region encompasses a wide spectrum of differential diagnosis. Fine-needle aspiration is a quick and safe technique, which can provide useful information for initial assessment and further therapeutic measures. The aim of this retrospective study was to evaluate the performance characteristics of the fine-needle aspiration (FNA) in cystic neck lesions. Of 142 patients with FNA for cystic neck masses during 2002-2007, 92 cases were selected with a follow-up histologic diagnosis, excluding the cystic colloid nodule of the thyroid. The cases were divided into salivary gland cystic neck (37 patients) and non-salivary cystic neck (55 patients) mass groups. False-positive and false-negative diagnoses were applied only to the malignant lesions after confirmation by histopathology. In the first group, nine malignant and 28 benign diagnoses were made by FNA; of which three were false-negative. In the second group, there were nine malignant and 46 benign diagnoses with three false negatives. The overall performance of the FNA showed 76% sensitivity and 100% specificity. In conclusion, FNA of the cystic neck lesions offers an invaluable and highly specific initial diagnostic approach for the management of the patients. (c) 2009 Wiley-Liss, Inc.

  18. Congenital platelet function defects

    Science.gov (United States)

    ... pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital ... Congenital platelet function defects are bleeding disorders that cause reduced platelet function. Most of the time, people with these disorders have ...

  19. Congenital Heart Information Network

    Science.gov (United States)

    ... heart defects. Important Notice The Congenital Heart Information Network website is temporarily out of service. Please join ... and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright © ...

  20. Congenital heart disease

    Science.gov (United States)

    Congenital heart disease (CHD) is a problem with the heart's structure and function that is present at birth. ... Fraser CD, Kane LC. Congenital heart disease. In: Townsend CM Jr, ... Sabiston Textbook of Surgery: The Biological Basis of Modern ...

  1. Co-morbidity of cystic fibrosis and celiac disease in Scandinavian cystic fibrosis patients

    DEFF Research Database (Denmark)

    Fluge, G; Olesen, H V; Gilljam, M

    2009-01-01

    BACKGROUND: The co-morbidity of cystic fibrosis (CF) and celiac disease (CD) has been reported sporadically since the 1960s. To our knowledge, this is the first time a systematic screening is performed in a large cohort of CF patients. METHODS: Transglutaminase-IgA (TGA), endomysium-IgA (EMA...... patients were detected in the Danish CF cohort. Patients diagnosed with untreated CD reported symptoms typical of both CF and CD (poor weight gain, loose and/or fatty stools, fatigue, irritability, abdominal pain). They improved after introduction of a gluten-free diet. CONCLUSIONS: Systematic screening...

  2. Congenital Intrahepatic Portosystemic Shunts

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Woong Hee; Kim, Young Tong; Jou, Sung Shick; Shin, Hyeong Cheol [Soonchunhyang University, Asan (Korea, Republic of)

    2008-12-15

    Intrahepatic portosystemic shunts are an anomalous connection between the portal vein and hepatic vein/IVC, which may be either congenital or acquired secondary to liver cirrhosis or portal hypertension. Cases of congenital intrahepatic shunts are usually encountered in children and may spontaneously resolve. We report 5 cases of congenital intrahepatic portosystemic shunts in neonates and an adult

  3. Cystic tumors of the pancreas

    International Nuclear Information System (INIS)

    Brambs, H.J.; Juchems, M.

    2008-01-01

    Cystic lesions of the pancreas encompass a broad spectrum of benign, premalignant, and malignant tumors which are primarily cystic or result from cystic necroses of solid neoplasms. Because of the wide use of cross-sectional imaging techniques they are increasingly being identified in asymptomatic patients as well as in patients presenting with abdominal pain, jaundice or pancreatitis. Among these lesions, intraductal papillary mucinous neoplasms, serous cystic neoplasms and mucinous cystic neoplasms represent the majority of cases. With increasing experience with these tumors, a refinement of our understanding of their morphology and of their natural course has emerged. It is important to be familiar with the CT and MR imaging features of these lesions to differentiate these tumors and to orient the diagnosis towards benign or malignant forms. Because characterization of cystic tumors of the pancreas can sometimes be difficult due to overlapping imaging features, additional criteria such as clinical symptoms, localization, age and gender have to be taken into account. If appropriately treated, these tumors can usually be cured by resection and the decreasing risk of pancreatic surgery has led to an increasing number of resections of pancreatic tumors. The management of cystic tumors of the pancreas has not yet been standardized and the correct evaluation and subsequent management of the disease in asymptomatic patients have not been fully defined. (orig.) [de

  4. Gastrointestinal Manifestations of Cystic Fibrosis

    Science.gov (United States)

    2016-01-01

    Cystic fibrosis has historically been considered a pulmonary disease, but with the increasing life expectancy of these patients, gastrointestinal manifestations are becoming more important. Furthermore, nutritional status is closely linked to pulmonary function and, thus, overall mortality. This article discusses gastrointestinal manifestations (which involve nutritional, pancreatic, hepatobiliary, and, in particular, gastrointestinal tract issues) of cystic fibrosis as well as management of the disease. In addition, the article discusses studies that have been critical to our understanding of gastrointestinal manifestations of cystic fibrosis. PMID:27330503

  5. Large Omental Cystic Lymphangioma Masquerading as Mucinous Ovarian Neoplasia in an 8-Year-Old Premenarchal Girl: The Findings from Diagnostic Imaging and Laparoscopic-Assisted Excision.

    Science.gov (United States)

    Takeda, Akihiro; Ito, Hiroaki; Nakamura, Hiromi

    2017-12-01

    Omental cystic lymphangioma is an extremely rare abdominal mass caused by congenital malformation. An 8-year-old premenarchal girl reported abdominal pain. Diagnostic imaging revealed a large multicystic mass measuring 22 cm in diameter, which occupied the entire abdominal cavity with ascites. Emergency laparoscopy revealed a ruptured large cystic mass originating from the greater omentum; this was followed by successful laparoscopic-assisted excision. The pathological diagnosis was omental cystic lymphangioma. The present findings show that omental cystic lymphangioma masquerading as mucinous ovarian neoplasia was a rare cause of acute abdominal events in a young girl. The present case shows that minimally invasive surgery can be a feasible option, which might achieve a favorable outcome in a young patient with an omental cystic lymphangioma. Copyright © 2017 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  6. A role of computed tomography or magnetic resonance imaging for cystic lung diseases in children

    International Nuclear Information System (INIS)

    Yanagihara, Jun; Shimotake, Takashi; Deguchi, Eiichi; Tokiwa, Kazuaki; Iwai, Naomi

    1995-01-01

    Fourteen children with cystic lung diseases were imaged using computed tomography (CT) and/or magnetic resonance imaging (MRI). These patients studied included 7 patients with bronchogenic cyst of lung, 4 with pulmonary sequestration, 1 with congenital cystic adenomatoid malformation, 1 with lung abscess, and 1 with cystic bronchoectasis. MRI identified all lesions seen on the chest radiographs. It was particularly valuable delineating contents of bronchogenic cyst without the need for contrast material enhancement. However, MRI was not quite as sensitive as CT that detected very small abnormalities, because MRI had more artifacts than those of CT. In conclusion, we believe that both CT and MRI are needed for differential diagnosis of lung diseases in children. (author)

  7. A role of computed tomography or magnetic resonance imaging for cystic lung diseases in children

    Energy Technology Data Exchange (ETDEWEB)

    Yanagihara, Jun; Shimotake, Takashi; Deguchi, Eiichi; Tokiwa, Kazuaki; Iwai, Naomi [Kyoto Prefectural Univ. of Medicine (Japan)

    1995-06-01

    Fourteen children with cystic lung diseases were imaged using computed tomography (CT) and/or magnetic resonance imaging (MRI). These patients studied included 7 patients with bronchogenic cyst of lung, 4 with pulmonary sequestration, 1 with congenital cystic adenomatoid malformation, 1 with lung abscess, and 1 with cystic bronchoectasis. MRI identified all lesions seen on the chest radiographs. It was particularly valuable delineating contents of bronchogenic cyst without the need for contrast material enhancement. However, MRI was not quite as sensitive as CT that detected very small abnormalities, because MRI had more artifacts than those of CT. In conclusion, we believe that both CT and MRI are needed for differential diagnosis of lung diseases in children. (author).

  8. OK432 (picibanil) efficacy in an adult with cystic cervical lymphangioma. A case report.

    Science.gov (United States)

    Alonso, Juan; Barbier, Luis; Alvarez, Julio; Romo, Laura; Martín, Jesús C; Arteagoitia, Iciar; Santamaría, Joseba

    2005-01-01

    Cervical cystic lymphangioma (CCL) is a rare and benign tumour involving congenital and cystic abnormalities derived from lymphatic vessels. The most accepted treatment continues to be surgical excision. However, when this infiltrates vital neurovascular neck structures, complete excision is difficult and if only partial, the recurrence rate is very high. The most frequently used alternative treatment is to inject sclerosants into the lesion. The use of these techniques has reported good results in children; however, there are few references thereof with regard to adults. We are reporting on a cervical cystic lymphangioma in a male aged 22, treated with an intra-lesion injection of 20 cc with 0.01 mg/cc dilution of OK-432 (picibanil) in physiological serum. Sole complications were fever and local reaction where the solution was injected. One month after treatment the lymphangioma had totally remitted and sixteen months later continues in remittance.

  9. Angle closure glaucoma in congenital ectropion uvea

    Directory of Open Access Journals (Sweden)

    Grace M. Wang

    2018-06-01

    Full Text Available Purpose: Congenital ectropion uvea is a rare anomaly, which is associated with open, but dysplastic iridocorneal angles that cause childhood glaucoma. Herein, we present 3 cases of angle-closure glaucoma in children with congenital ectropion uvea. Observations: Three children were initially diagnosed with unilateral glaucoma secondary to congenital ectropion uvea at 7, 8 and 13 years of age. The three cases showed 360° of ectropion uvea and iris stromal atrophy in the affected eye. In one case, we have photographic documentation of progression to complete angle closure, which necessitated placement of a glaucoma drainage device 3 years after combined trabeculotomy and trabeculectomy. The 2 other cases, which presented as complete angle closure, also underwent glaucoma drainage device implantation. All three cases had early glaucoma drainage device encapsulation (within 4 months and required additional surgery (cycloablation or trabeculectomy. Conclusions and importance: Congenital ectropion uvea can be associated with angle-closure glaucoma, and placement of glaucoma drainage devices in all 3 of our cases showed early failure due to plate encapsulation. Glaucoma in congenital ectropion uvea requires attention to angle configuration and often requires multiple surgeries to obtain intraocular pressure control. Keywords: Congenital ectropion uvea, Juvenile glaucoma, Angle-closure glaucoma, Glaucoma drainage device

  10. Sonographic Finding of Scrotal Cystic Lymphangioma with Hemorrhage Caused by Percutaneous Needle Aspiration: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jae Woon; Cho, Jae Ho [Yonsei University College of Medicine, Seoul (Korea, Republic of)

    2011-03-15

    Lymphangioma is a hamartoma, which is a benign tumor caused by congenital malformation of the lymphatic system. These tumors usually occur in the neck and axilla, and occasionally in the mediastinum, mesenterium, retroperitoneum and thigh, The scrotum and perineum are the least frequent sites. We report here on an uncommon case of cystic lymphangioma that presented as focal hemorrhage caused by percutaneous needle aspiration, and we briefly review the radiologic finding and the relevant literature

  11. Diagnosis of secondary pulmonary lymphangiectasia in congenital heart disease: a novel role for chest ultrasound and prognostic implications.

    Science.gov (United States)

    Lam, Christopher Z; Bhamare, Tanmay Anant; Gazzaz, Tamadhir; Manson, David; Humpl, Tilman; Seed, Mike

    2017-10-01

    Secondary pulmonary lymphangiectasia is a complication of congenital heart disease that results from chronic pulmonary venous obstruction. We aimed to evaluate the performance of chest ultrasound (US) in diagnosing secondary pulmonary lymphangiectasia and to review the clinical course of children with secondary pulmonary lymphangiectasia. Chest US was performed on 26 children with hypoplastic left heart syndrome, total anomalous pulmonary venous connection or cor triatriatum in a prospective observational study. Thirteen children had pulmonary venous obstruction (62% male; median age: 17 days old, range: 1-430 days old) and 13 children did not have obstruction (62% male; median age: 72 days old, range: 4-333 days old). US features of secondary pulmonary lymphangiectasia were documented and diagnostic performance was determined. Clinical course of patients with secondary pulmonary lymphangiectasia was reviewed. Eleven of 13 (84.6%) patients in the obstructed group had a clinical and/or biopsy diagnosis of secondary pulmonary lymphangiectasia. Statistically significant chest US criteria for diagnosis were presence of irregular lung surface (likelihood ratio [LR] 6.8, 95% confidence interval [CI] 1.9-25.1), subpleural cystic appearing structures (LR 3.6, 95% CI 1.2-10.7), and combination of subpleural cystic appearing structures and surface irregularity together (LR 10.9, 95% CI 1.6-75.0). Seven of 11 (63.6%) patients with secondary pulmonary lymphangiectasia died during follow-up, the majority due to cardiopulmonary failure or complications. Chest US is an accurate and reproducible bedside method for diagnosing secondary pulmonary lymphangiectasia in patients with pulmonary venous obstruction. These patients may have worse prognoses.

  12. Giant cystic craniopharyngiomas

    International Nuclear Information System (INIS)

    Young, S.C.; Zimmerman, R.A.; Nowell, M.A.; Bilaniuk, L.T.; Hackney, D.B.; Grossman, R.I.; Goldberg, H.I.

    1987-01-01

    Three cases of giant cystic craniopharyngiomas with large areas of extension beyond the suprasellar area are presented. The magnetic resonance (MR) appearance in one case is described. These giant tumors had large, multilobulated cysts that comprised the bulk of the tumors. In one case, there was an unusual extension of the large tumor cyst into the lateral ventricle. In two cases, the tumors extended to the level of the foramen magnum. On CT, the cyst contents of these two tumors were hyperdense and became hypodense postoperatively. All three tumors harbored calcifications in the form of clumps in the suprasellar region and rim calcifications around the cysts. None of the tumors exhibited contrast enhancement. A literature review of the radiographic features of craniopharyngiomas is discussed. (orig.)

  13. Congenital Absence of the Internal Carotid Artery

    International Nuclear Information System (INIS)

    Florio, Francesco; Balzano, Silverio; Nardella, Michele; Strizzi, Vincenzo; Cammisa, Mario; Bozzini, Vincenzo; Catapano, Giuseppe; D'Angelo, Vincenzo

    1999-01-01

    We report three cases of congenital absence of an internal carotid artery (ICA), diagnosed incidentally by digital subtraction angiography. The analysis of the cases is based on the classification of segmental ICA agenesis proposed by Lasjaunias and Berenstein. Usually the patients with this rare vascular anomaly are asymptomatic; some may have symptoms related to cerebrovascular insufficiency, compression by enlarged intracranial collateral vessels, or complications associated with cerebral aneurysms. Diagnosis of congenital absence of ICA is made by skull base computed tomography (CT) scan, CT and magnetic resonance angiography, and conventional or digital subtraction angiography

  14. Magnetic resonance imaging of cystic periventricular leukomalacia

    International Nuclear Information System (INIS)

    Kadoi, Nobuaki; Nomura, Junko; Nowatari, Masahiko; Ohta, Takeo; Kamohara, Takashi; Yashiro, Kimio

    1990-01-01

    A study was performed to assess the values of magnetic resonance (MR) imaging in evaluation and the follow up of patients with cystic periventricular leukomalacia. Ten patients selected for MR imaging were diagnosed as having periventricular cystic lesions based on US scans. The range of gestational ages was 27 to 32 weeks, and the range of birth weights was 927 to 2,046 g. Twenty MR examinations were carried out using a 0.5 T superconducting system (Resona; Yokogawa). On the first MR examinations, taken by 6 months of age, low signal intensity lesions within the periventricular white matter, moderate ventriculomegaly with irregularity of the ventricular wall and delayed myelination were observed. These were the MR findings observed in the subacute stage of PVL. On the second or the third MR examinations, taken after 12 months of age, increased signal intensity in periventricular white matter on T 2 weighted images decreased volume of periventricular white matter and centrum semiovale and the ventriculomagaly with irregularity of ventricular wall were observed. However, progressions of myelination were proved to be not delayed in comparison with age matched controls. These were thought to be the MR findings of late stage of PVL. As the US findings of PVL have good correlation with pathologic changes revealed at autopsy, MR imaging can depict myelination and detect PVL lesion beyond the neonatal period. These observations demonstrate the value of the MR imaging for the follow up of the patients with PVL beyond the time of fontanel closure. (author)

  15. Breakdown in Breathing: The Complexities of Cystic Fibrosis

    Science.gov (United States)

    ... Healthier Lungs in Kids Wise Choices Living with Cystic Fibrosis In between checkups, practice good self-care and ... Links What Is Cystic Fibrosis? Learning About Cystic Fibrosis NIH Cystic Fibrosis Fact Sheet Genetic and Rare Diseases Information ...

  16. The evaluation of selected insomnia predictors in adolescents and young adults with cystic fibrosis.

    Science.gov (United States)

    Tomaszek, Lucyna; Cepuch, Grazyna; Pawlik, Lidia

    2018-03-21

    The purpose of the study was to assess the incidence of insomnia in adolescents and young adults with cystic fibrosis and its impact on the quality of life, and to examine whether demographic and clinical factors and negative emotional states are predictors of insomnia in these patients. The study was conducted among 95 cystic fibrosis patients aged 14-25 years. The study used a personal questionnaire survey, the Athens Insomnia Scale, the Cystic Fibrosis Quality of Life Questionnaire, the Hospital Anxiety and Depression Scale, and the Numeric Rating Scale. Insomnia was diagnosed in 38% of cystic fibrosis patients. In patients with insomnia, the level of anxiety (Me: 10 vs. 4; P=0.000) and depression (Me: 6.5 vs. 2; P=0.000) was significantly higher than in the good sleep quality group. The risk of insomnia increases as anxiety (OR: 4.31; 95% CI: 2.20 to 8.41) and depressive symptoms exacerbate (OR: 4.98; 95% CI: 1.84 to 13.43). Insomnia significantly worsens the quality of life in cystic fibrosis patients (ß =-0.5, P=0.000). Insomnia affects a large percentage of cystic fibrosis patients, and anxiety and depression are factors that increase the risk of insomnia. Insomnia decreases the quality of life in cystic fibrosis patients.

  17. Vitamin K supplementation for cystic fibrosis.

    Science.gov (United States)

    Jagannath, Vanitha A; Thaker, Vidhu; Chang, Anne B; Price, Amy I

    2017-08-22

    Cystic fibrosis is a genetic disorder which can lead to multiorgan dysfunction. Malabsorption of fat and fat-soluble vitamins (A, D, E, K) may occur and can cause subclinical deficiencies of some of these vitamins. Vitamin K is known to play an important role in both blood coagulation and bone formation. Supplementation with vitamin K appears to be one way of addressing the deficiency, but there is very limited agreement on the appropriate dose and frequency of use of these supplements. This is an updated version of the review. To assess the effects of vitamin K supplementation in people with cystic fibrosis and to determine the optimal dose and route of administration of vitamin K for both routine and therapeutic use. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Trials Register comprising references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings.Most recent search: 30 January 2017. Randomised and quasi-randomised controlled trials of all preparations of vitamin K used as a supplement compared to either no supplementation (or placebo) at any dose or route and for any duration, in children or adults diagnosed with cystic fibrosis (by sweat test or genetic testing). Two authors independently screened papers, extracted trial details and assessed their risk of bias. Two trials (total of 32 participants) each lasting one month were included in the review and were assessed as having a moderate risk of bias. One was a dose-ranging parallel group trial in children (aged 8 to 18 years); and the other (with an older cohort) had a cross-over design comparing supplements to no treatment, but no separate data were reported for the first intervention period. Neither of the trials addressed any of the primary outcomes (coagulation, bone formation and quality of life). Both trials reported the restoration of serum vitamin K and undercarboxylated osteocalcin

  18. Incidence of Radiographic Cystic Lesions Associated With Unerupted Teeth in Dogs.

    Science.gov (United States)

    Babbitt, Sam G; Krakowski Volker, Mary; Luskin, Ira R

    2016-12-01

    Medical records and radiographs were retrospectively reviewed over a 3-year period (2012-2015) from dogs presented to a private dental referral practice. Medical records were evaluated for the diagnosis of impacted or embedded teeth. The identified dogs' radiographs were reviewed for the presence of radiographically significant cystic lesions that were associated with the impacted or embedded teeth. Radiographic criteria were established by the authors for the purposes of identifying cystic lesions in dogs of different breeds and sizes, using established indices from human dental pathology as a basis. When histopathology results were available, they were reviewed and reported. In this study, 136 dogs ranging in age from 3 months to 17 years were diagnosed with 213 unerupted teeth during the study period. There were 62 (29.1%) of the 213 radiographically apparent cystic lesions identified based on the criteria proposed in this study. In this study, 146 (68.5%) of the 213 unerupted teeth were identified as mandibular first premolar teeth. Histopathology was obtained on 28 (45.1%) of the 62 diagnosed cystic lesions. Dentigerous cysts accounted for 20 (71.4%) of the 28 cystic lesions. Brachycephalic breeds were overrepresented in this study. Boxer, pug, Shih Tzu, and Boston terrier dogs were most likely to present with cystic lesions associated with unerupted teeth. Seventeen (85%) of the 20 cases with a histopathologic diagnosis of dentigerous cyst were found within these 4 brachycephalic breeds.

  19. [Penile congenital abnormalities].

    Science.gov (United States)

    Boillot, B; Teklali, Y; Moog, R; Droupy, S

    2013-07-01

    Congenital abnormalities of the penis are usually diagnosed at birth and pose aesthetic and functional problems sometimes requiring surgical management. A literature review was conducted on Medline considering the articles listed until January 2012. Hypospadias is the most common malformation (1 in 250 boys. Familial forms: 7%). The causes remain hypothetical but the doubling of the incidence in 30 years could be linked to fetal exposure to endocrine disruptors "estrogen-like" used in the food industry in particular. Surgical treatment is usually intended to improve the aesthetic appearance but sometimes, in case of significant curvature or posterior meatus, necessary for normal sexual life and fertility. Other malformations (epispades, buried penis, transpositions, twists and preputial abnormalities) as well as management for functional or aesthetic consequences of these malformations in adulthood require complex surgical care in a specialized environment. The improvement of surgical techniques and pediatric anesthesia allows an early and effective specialized surgical approach of penile malformations. Management of sequelae in adulthood must be discussed and requires experience of surgical techniques on pediatric and adult penis. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  20. Unusual fast-growing ovarian cystic teratoma during pregnancy presenting with intracystic fat "floating balls" appearance.

    Science.gov (United States)

    Donnadieu, Anne Claire; Deffieux, Xavier; Le Ray, Camille; Mordefroid, Marie; Frydman, René; Fernandez, Hervé

    2006-12-01

    A large ovarian cyst was diagnosed at 22 weeks' of gestation in a 32-year-old woman. The ultrasonographic appearance of the ovarian cyst was unusual with multiple mobile, spherical echogenic structures floating in the cystic mass, called intracystic "fat balls." Right adnexectomy was performed by laparotomy at 28 weeks' of gestation, because of rapid growth and overall size exceeding 20 cm. Pathological examination confirmed ovarian cystic teratoma. Usually, dermoid cysts are slow-growing, even in premenopausal women. The exact mechanism related to the fast growth during pregnancy is unknown. It could be related to an unusual pattern of estrogen (E)/P receptors expression in the cystic teratoma. This case shows that a fast-growing, mature ovarian cystic teratoma may occur during pregnancy.

  1. congenital Biliary atresia

    African Journals Online (AJOL)

    embryonic form), comprising 10-35% of cases2. The pathology of the extrahepatic biliary system widely varies in these ... hepatic duct, with cystic structures found in the porta hepatis. .... Nelson Textbook of. Paediatrics 15th edition : Chapter 302.

  2. Congenital scoliosis associated with agenesis of the uterine cervix. Case report

    Directory of Open Access Journals (Sweden)

    Monica Matteo

    2004-06-01

    Full Text Available Abstract Background Alterations in the normal sequence of development of müllerian ducts lead to a wide spectrum of reproductive tract abnormalities. A rare form of lack of development, regarding a short tract of the müllerian ducts, leads to the isolated agenesis of the uterine cervix. Anomalies identified among patients with müllerian agenesis include skeletal deformities (i.e., scoliosis of the spine and Klippel-Feil anomaly. Case presentation A 46 years old woman presenting cyphoscoliosis and very low stature (120 cm – 3,93 feet, came to our observation for acute pelvic pain; she also reported primary amenorrhoea associated with cyclic pelvic pain. Clinical and imaging evaluation, evidenced a blind vaginal duct of normal length, left cystic adnexal mass, and enlarged uterus with hematometra. FSH, LH, 17β estradiol and CA-125, karyotype and radiographic study of limbs and vertebral column were also evaluated. At laparotomy, a left ovarian cyst was found. Uterus ended at the isthmus; under this level a thin fibrous tissue band was found, joining the uterus to the vagina. Uterine cervix was replaced by fibrous tissue containing some dilated glands lined with müllerian epithelium. Karyotype resulted 46, XX. The described skeletal deformity, were consistent with Klippel-Feil syndrome. Conclusion We report a case of congenital scoliosis associated with müllerian agenesis limited to uterine cervix, association thus far seen only among patients with Mayer-Rokitansky-Kuster-Hauser syndrome (utero-vaginal agenesis. This case report supports the necessity to evaluate, for accompanying müllerian anomalies, all cases of congenital structural scoliosis in view of the possibility for many müllerian development abnormalities, if timely diagnosed, to be surgically corrected.

  3. Congenital pulmonary airway malformation and sequestration: Two standpoints for a single condition

    Directory of Open Access Journals (Sweden)

    Lucile Fievet

    2015-01-01

    Full Text Available In adults, congenital pulmonary malformations are candidates for surgery due to symptoms. A pre-natal diagnosis is simple and effective, and allows an early thoracoscopic surgical treatment. A retrospective study was performed to assess management in two different populations of adults and children to define the best strategy. Subjects and Methods: Pulmonary malformations followed at the University Hospital from 2000 to 2012 were reviewed. Clinical history, malformation site, duration of hospitalisation, complications and pathology examinations were collected. Results: A total of 52 cases (33 children, 19 adults were identified. In children, 28 asymptomatic cases were diagnosed pre-natally and 5 during the neonatal period due to infections. Surgery was performed on the children between the ages of 2 and 6 months. Nineteen adults underwent surgery, 16 because of symptoms and 3 adults for anomalies mimicking tumours. The mean age within the adult group was 42.5 years. In children, there was one thoracotomy and 32 thoracoscopies, with 7 conversions for difficult exposure, dissection of vascular pedicles, bleeding or bronchial injury. In the adults, there were 15 thoracotomies and 4 thoracoscopies, with one conversion. Post-operative complications in the adults were twice as frequent than in children. The mean time of the children′s hospitalisation was 7.75 days versus 7.16 days for the adults. Pathological examinations showed in the children: 7 sequestrations, 18 congenital cystic pulmonary malformations (CPAM, 8 CPAM associated sequestrations; in adults: 16 sequestrations, 3 intra-pulmonary cysts. Conclusion: Early thoracoscopic surgery allows pulmonary parenchyma conservation with pulmonary development, reduces respiratory and infectious complications, eliminates a false positive cancer diagnosis later in life and decreases risks of thoracic parietal deformation.

  4. Mesenteric Cystic Lymphangioma of Mesocolic Origin in a Three-Month-Old Infant: A Rare Differential Diagnosis of Abdominal Distension

    Directory of Open Access Journals (Sweden)

    Shabbir Hussain

    2015-09-01

    Full Text Available Cystic lymphangioma is a rare benign tumour occurring during childhood. This tumour, caused by lymphatic system malformations, commonly occurs in head and neck regions. Herein, we report the case of a three-month-old male infant, diagnosed with a large cystic mass in the abdominal cavity and groin. The infant presented with low-grade fever and significant abdominal distension. Abdominal CT scan (with a contrast agent revealed a large cystic mass in the abdominal cavity. During surgery, the mass was found to originate from the mesentery and was inferiorly connected to the sigmoid colon. Also, a small cystic mass was detected in the left scrotal region. The mass was removed along with a portion of the sigmoid colon and the cyst in the groin. Later on, histopathological examination of the mass confirmed the diagnosis of mesenteric cystic lymphangioma.

  5. Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects.

    Science.gov (United States)

    Jonker, Jara E; Liem, Eryn T; Elzenga, Nynke J; Molenbuur, Bouwe; Trzpis, Monika; Broens, Paul M A

    2016-12-01

    To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. We included 129 patients with CARM born between 2004 and 2013, and referred to University Medical Center Groningen. Recto-perineal and recto-vestibular fistulas were classified as mild CARMs, all others as severe. Significant patent foramen ovale, secundum atrial septal defect, and small ventricular septum defect were classified as minor CHDs, all others as major. Of 129 patients with CARM, 67% had mild CARM, 33% severe CARM, and 17% were additionally diagnosed with CHD. CHDs were distributed equally in patients with mild or severe CARMs. Patients with multiple congenital abnormalities were more frequently diagnosed with CHD (n = 16, 36%) than patients without multiple congenital malformations (n = 5, 9%, P = .001). Patients with CARM diagnosed with CHD using pediatric cardiac echo screening were younger than 3 months of age at diagnosis. Earlier general pediatric examinations missed 7 (50%) children with mild and 4 (50%) with severe CHDs. The severity of CARM could predict neither prevalence nor severity of CHD. More than one-half of CHDs were missed during the first physical examination. No new CHDs were found in patients older than 3 months of age at the time CARMs were diagnosed. We recommend screening all patients with CARM younger than 3 months of age for CHD at the time CARM is diagnosed. Preoperative echocardiography should be the rule in children younger than 3 months of age and with multiple congenital anomalies. Copyright © 2016 Elsevier Inc. All rights reserved.

  6. Human cystic echinococcosis in South Africa

    NARCIS (Netherlands)

    Mogoye, Benjamin; Menezes, Colin N.; Grobusch, Martin P.; Wahlers, Kerstin; Frean, John

    2012-01-01

    Cystic echinococcosis (CE) is caused by the tapeworm, Echinococcus granulosus. The tapeworms resides in the small intestines of canids and the lifecycle involves both intermediate and definitive hosts. Humans are accidental intermediate hosts. Cystic echinococcosis is an economically important

  7. Computed tomography of cystic pancreatic fibrosis

    International Nuclear Information System (INIS)

    Brachlow, M.; Zaunbauer, W.; Haertel, M.

    1984-01-01

    The computer tomographic appearances of atrophic and lipomatous degeneration of the pancreas in cystic pancreatic fibrosis are described. CT exploration of the pancreas in recommended, particularly in differential diagnostic aspects of cystic fibrosis. (orig.) [de

  8. Magnetic resonance imaging (MRI) of congenital cardiovascular malformations

    International Nuclear Information System (INIS)

    Sakakibara, Makoto; Kobayashi, Shirou; Imai, Hitoshi; Watanabe, Shigeru; Masuda, Yoshiaki; Inagaki, Yoshiaki; Morita, Huminori; Uematsu, Sadao; Arimizu, Noboru

    1986-01-01

    In order to determine the value of MRI in diagnosing congenital cardiovascular malformations, MR Images were obtained in 25 adult patients with congenital cardiovascular malformations. Gated MRI detected all of 13 atrial septal defects, and all of 4 ventricular septal defects, but ungated MRI detected none of 3 atrial septal defects. Other congenital cardiovascular malformations (2 with Ebstein's disease, 1 with Fallot's pentalogy, and 1 with Pulmonary stenosis) were well visualized. Vascular malformations (1 with Patent ducts arteriosus, 1 with Supravalvelar aortic stenosis, 1 with Coarctation of Aorta, 1 with Right Aortic Arch) were well visualized in all of 7 patients by ungated MRI. MRI was a valuable noninvasive method of diagnosing congenital heart disease. (author)

  9. The radiographic diagnosis of early attacking congenital syphilis of bone

    International Nuclear Information System (INIS)

    Ji Yaping; Zhuge Moyi

    2005-01-01

    Objective: To explore the method of radiological diagnosis of early attacking congenital syphilis. Methods: Seven cases of early attacking congenital syphilis of bone were retrospectively analyzed, diagnosed serologically, and were taken X-rays of the long bones. Results: Bone radiographs abnormalities were identified in 6 of 7 cases. Five cases suffered periotities, six cases metaphysitis, and three cases combined with diaphysitis. Seven cases had swollen soft tissue. The vertebraes, craniums and epiphysitis were not found abnormal in 7 cases. Diffusion, multiple and symmetric metaphysitis, periosteitis and osteitis were the radiological characters of congenital syphilis of bone. Conclusion: Radiography can affirm the diagnose of early attacking congenital syphilis and definite the arrange and depth. Radiographs of the extremities should be routinely taken in suspected infants. (authors)

  10. Genetics Home Reference: congenital hypothyroidism

    Science.gov (United States)

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

  11. Antenatal sonographic appearance of a large orbital encephalocele: a case report and differential diagnosis of orbital cystic mass.

    Science.gov (United States)

    Ahmed, Ahmed; Noureldin, Rehab; Gendy, Mohamed; Sakr, Sharif; Abdel Naby, Mahmoud

    2013-06-01

    Orbital meningoceles and encephaloceles are rare extracranial extensions of the brain and meninges with or without direct communication between the central nervous system and the abnormal mass. We reported a rare case of large fetal orbital encephalocele; the diagnosis was suspected initially by prenatal ultrasound and confirmed by postnatal MRI and CT scans. The differential diagnosis of an intrauterine fetal cystic orbital mass includes orbital teratoma, epidermoid inclusion cysts, hemangioma or lymphangioma, congenital cystic eye, dacryocystocele, and orbital cephalocele. Copyright © 2012 Wiley Periodicals, Inc.

  12. Cystic Lesions in Autoimmune Pancreatitis

    Directory of Open Access Journals (Sweden)

    Macarena Gompertz

    2015-11-01

    Full Text Available Autoimmune pancreatitis (AIP can be chronic or recurrent, but frequently completely reversible after steroid treatment. A cystic lesion in AIP is a rare finding, and it can mimic a pancreatic cystic neoplasm. Difficulties in an exact diagnosis interfere with treatment, and surgery cannot be avoided in some cases. We report the history of a 63-year-old male presenting with jaundice and pruritus. AIP was confirmed by imaging and elevated IgG4 blood levels, and the patient completely recovered after corticosteroid therapy. One year later, he presented with a recurrent episode of AIP with elevated IgG4 levels, accompanied by the appearance of multiple intrapancreatic cystic lesions. All but 1 of these cysts disappeared after steroid treatment, but the remaining cyst in the pancreatic head was even somewhat larger 1 year later. Pancreatoduodenectomy was finally performed. Histology showed the wall of the cystic lesion to be fibrotic; the surrounding pancreatic tissue presented fibrosis, atrophy and lymphoplasmacytic infiltration by IgG4-positive cells, without malignant elements. Our case illustrates the rare possibility that cystic lesions can be part of AIP. These pseudocysts appear in the pancreatic segments involved in the autoimmune disease and can be a consequence of the local inflammation or related to ductal strictures. Steroid treatment should be initiated, after which these cysts can completely disappear with recovery from AIP. Surgical intervention may be necessary in some exceptional cases.

  13. 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

  14. Congenital tumors of the central nervous system

    International Nuclear Information System (INIS)

    Severino, Mariasavina; Schwartz, Erin S.; Thurnher, Majda M.; Rydland, Jana; Nikas, Ioannis; Rossi, Andrea

    2010-01-01

    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, where aggressive surgical treatment leads to disease

  15. Mitochondrial disorders in congenital myopathies

    Directory of Open Access Journals (Sweden)

    D. A. Kharlamov

    2014-01-01

    Full Text Available The literature review gives data on the role of mitochondrial disorders in the pathogenesis of congenital myopathies: congenital muscular dystrophies and congenital structural myopathies. It describes changes in congenital muscular dystrophies with type VI collagen, in myodystrophy with giant mitochondria, in congenital central core myopathies, myotubular myopathy, etc. Clinical and experimental findings are presented. Approaches to therapy for energy disorders in congenital myopathies are depicted.

  16. Angle closure glaucoma in congenital ectropion uvea.

    Science.gov (United States)

    Wang, Grace M; Thuente, Daniel; Bohnsack, Brenda L

    2018-06-01

    Congenital ectropion uvea is a rare anomaly, which is associated with open, but dysplastic iridocorneal angles that cause childhood glaucoma. Herein, we present 3 cases of angle-closure glaucoma in children with congenital ectropion uvea. Three children were initially diagnosed with unilateral glaucoma secondary to congenital ectropion uvea at 7, 8 and 13 years of age. The three cases showed 360° of ectropion uvea and iris stromal atrophy in the affected eye. In one case, we have photographic documentation of progression to complete angle closure, which necessitated placement of a glaucoma drainage device 3 years after combined trabeculotomy and trabeculectomy. The 2 other cases, which presented as complete angle closure, also underwent glaucoma drainage device implantation. All three cases had early glaucoma drainage device encapsulation (within 4 months) and required additional surgery (cycloablation or trabeculectomy). Congenital ectropion uvea can be associated with angle-closure glaucoma, and placement of glaucoma drainage devices in all 3 of our cases showed early failure due to plate encapsulation. Glaucoma in congenital ectropion uvea requires attention to angle configuration and often requires multiple surgeries to obtain intraocular pressure control.

  17. [An uncommon cause of hypocalcemic convulsion: congenital rickets. Case report].

    Science.gov (United States)

    Karabel, Duran; Karabel, Musemma; Yilmaz, Ayse Esra; Tas, Tugba; Karayel, Metin

    2012-12-01

    Vitamin D deficiency and rickets are major health problems in developing countries. Congenital rickets is a rare form of rickets. Maternal vitamin D deficiency is the most important risk factor for vitamin D deficiency and rickets in newborns and early infancy. In this report, we presented a two-month old infant with seizures while hospitalized for pulmonary infection. Finally, congenital rickets due to maternal vitamin D deficiency was diagnosed.

  18. Congenital eversion of upper eyelids: Case report and management

    Directory of Open Access Journals (Sweden)

    Maheshwari Rajat

    2006-01-01

    Full Text Available Congenital eversion of the upper eyelids is a rare condition, the exact cause of which remains unknown. It is more frequently associated with Down′s syndrome and black babies. If diagnosed early and treated properly, the condition can be managed without surgery. We report a case of congenital bilateral severe upper eyelid eversion in a normal infant, born by vaginal delivery. The case was conservatively managed by lubricants, antibiotics and eyelid patching.

  19. Clinicopathological features of transient myeloproliferative syndrome and congenital leukaemia

    International Nuclear Information System (INIS)

    Sajid, N.; Ahmed, N.; Mahmood, S.

    2010-01-01

    The objectives of the study were to determine the spectrum of the clinical and pathological findings, the management and prognosis of patients of transient myeloproliferative syndrome (TMS) and congenital leukaemia. Study Design: Case series. Place and Duration of Study: The study was conducted over a period of 8 years, from January 2000 to December 2007, at the Children's Hospital and the Institute of Child Health, Lahore. Methodology: Suspected patients presenting with fever, pallor, bruises and hepatosplenomegaly and diagnosed as either transient myeloproliferative disorder or congenital leukaemia were studied. The complete blood count, reticulocyte count, leukocyte alkaline phosphatase score, liver function tests, karyotyping studies and bone marrow aspiration biopsy were performed in all of those patients. Management and out come was noted. Results were described as frequency percentages. Results: Out of 10,000 patients presenting during this period, 24 patients were diagnosed as either of transient myeloproliferative syndrome or congenital leukaemia. Fifteen of these were diagnosed as patients of TMS and 9 as patients of congenital leukaemia. Down syndrome (DS) was diagnosed in 75% of these patients. TMS patients were put on supportive treatment and recovered spontaneously. One DS patient with congenital leukaemia went into spontaneous remission and 2 of DS patients with congenital leukaemia responded to chemotherapy while rest of them either died or lost to follow-up. Conclusion: TMS and congenital leukaemia were not very uncommon in the studied population. Majority had Down syndrome. It is important to differentiate their clinical and pathological presentations for proper management. TMS may resolve with supportive treatment while congenital leukaemia is a fatal condition requiring chemotherapy. (author)

  20. Microbubbles in macrocysts - Contrast-enhanced ultrasound assisted sclerosant therapy of a congenital macrocystic lymphangioma: a case report.

    Science.gov (United States)

    Menendez-Castro, Carlos; Zapke, Maren; Fahlbusch, Fabian; von Goessel, Heiko; Rascher, Wolfgang; Jüngert, Jörg

    2017-07-06

    Congenital cystic lymphangiomas are benign malformations due to a developmental disorder of lymphatic vessels. Besides surgical excision, sclerosant therapy of these lesions by intracavitary injection of OK-432 (Picibanil®), a lyophilized mixture of group A Streptococcus pyogenes, is a common therapeutical option. For an appropriate application of OK-432, a detailed knowledge about the structure and composition of the congenital cystic lymphangioma is essential. SonoVue® is a commercially available contrast agent commonly used in sonography by intravenous and intracavitary application. Here we report the case of 2 month old male patient with a large thoracic congenital cystic lymphangioma. Preinterventional imaging of the malformation was performed by contrast-enhanced ultrasound after intracavitary application of SonoVue® immediately followed by a successful sclerotherapy with OK-432. Contrast agent-enhanced ultrasound imaging offers a valuable option to preinterventionally clarify the anatomic specifications of a congenital cystic lymphangioma in more detail than by single conventional sonography. By the exact knowledge about the composition and especially about the intercystic communications of the lymphangioma sclerosant therapy becomes safer and more efficient.

  1. Psychological interventions for cystic fibrosis.

    Science.gov (United States)

    Glasscoe, C A; Quittner, A L

    2003-01-01

    As survival estimates for cystic fibrosis (CF) steadily increase long-term management has become an important focus for intervention. Psychological interventions are largely concerned with emotional and social adjustments, adherence to treatment and quality of life, however no systematic review of such interventions has been undertaken for this disease. To describe the extent and quality of effectiveness studies utilising psychological interventions for CF and whether these interventions provide significant psychosocial and physical benefits in addition to standard care. Relevant trials were identified from searches of Ovid MEDLINE, the Cochrane trial registers for CF and Depression, Anxiety and Neurosis Groups and PsychINFO; unpublished trials were located through professional networks and Listserves. Most recent search: April 2003. This review included RCTs and quasi-randomised trials. Study participants were children and adults diagnosed with CF, and their immediate family members. Psychological interventions were from a broad range of modalities and outcomes were primarily psychosocial, although physical outcomes and cost effectiveness were also considered. Two reviewers independently selected relevant trials and assessed their methodological quality. For binary and continuous outcomes a pooled estimate of treatment effect was calculated for each outcome. This review is based on the findings of eight studies, representing data from a total of 358 participants. Studies fell into four conceptually similar groups: (1) gene pre-test education counselling for relatives of those with CF (one study); (2) biofeedback, massage and music therapy to assist physiotherapy (three studies); (3) behavioural intervention to improve dietary intake in children up to 12 years (three studies); and (4) self-administration of treatments to improve quality of life in adults (one study). Interventions were largely educational or behavioural, targeted at specific treatment concerns

  2. Canine Choroid Plexus Tumor with Intracranial Dissemination Presenting as Multiple Cystic Lesions

    Directory of Open Access Journals (Sweden)

    Trisha J. Oura

    2013-01-01

    Full Text Available A Miniature Pinscher developed acute blindness and behavioral changes. On magnetic resonance imaging (MRI, there were multiple small intra-axial cystic lesions, and primary differential diagnoses included primary or metastatic neoplasia and neurocysticercosis. These cystic lesions were subsequently diagnosed histopathologically as disseminated choroid plexus carcinoma. This is only the second documented description of this diagnosis in a dog, but both patients had very similar MRI findings. This patient adds to the literature about the MRI characteristics of choroid plexus tumors and indicates that choroid plexus tumor should be considered as a possible cause of small multifocal intra-axial cystic brain lesions in dogs, regardless of whether a primary intraventricular lesion is visible.

  3. [Congenital dislocation of the knee: report of 2 cases].

    Science.gov (United States)

    Ochoa Gómez, L; Sánchez Gimeno, J; García Barrecheguren, E; Marulanda Del Valle, K; Almonte Adón, K; Guerrero Laleona, C

    2015-01-01

    Congenital dislocation of the knee is a rare disease. The diagnosis is made at birth by clinical findings, and confirmed radiologically. It has been associated with various etiologies from intrauterine fetal malpositions to genetic disorders. The prognosis depends on early treatment and whether there are other congenital anomalies. We report two new cases of congenital dislocation of the knee, observed in our hospital during the period of a month, diagnosed immediately after birth, and both with a good clinical outcome. Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  4. Echocardiography in the adult's congenital cardiopaties

    International Nuclear Information System (INIS)

    Escobar Q, Carlos I; Jaramillo U, Mario; Tenorio, Luis F; Molina V, Claudia; Saldarriaga A, Marcela; Arango, Angela M

    2003-01-01

    The number of adults with congenital heart disease is steadily increasing in the course of time. We ignore the prevalence and the most frequent diagnoses in our environment. A descriptive prospective study is presented. Between November 1 1999 and July 31 2001, 8871 Tran-thoracic and Tran-esophageal echocardiographies were performed in the Clinica Cardiovascular Santa Maria's echocardiography service. We found 143 congenital cardiopathies (1.6%) in 74 men and 69 women with a mean age of 37.7 +/- 18.4 years. the most frequent diagnoses were bicuspid aortic valve, atrial septal defect, ventricular septal defect, patent ductus arteriosus and Ebstein's anomaly. these findings agree with world wide data

  5. Cystic uterus masculinus in the dog: six case history reports

    International Nuclear Information System (INIS)

    Atilola, M.A.O.; Pennock, P.W.

    1986-01-01

    Radiographic, historical, clinical signs, and surgical and histopathologic findings of six dogs with diagnosed cystic uterus masculinus are given. The condition was seen in aged dogs between 4 and 15 years (mean of 8.8 years). There was no breed predisposition, although the larger breeds were involved in this study. The predominant clinical signs were constipation, dysuria and anuria. Lateral survey recumbent abdominal radiographs coupled with negative-or positive-contrast cystography were useful in delineating the bladder and the urethra, thus revealing the smooth-contoured, asymmetrical fluid-filled viscus in the caudal abdomen. The bi-horned cysts were connected to the dorsal urethra through a short blind-ending pedicle. The nonseptic, aspermic, cystic fluid averaged 146.7 ml (range of 100–200 ml). The predominant epithelial lining cells seen were simple columnar to pseudostratified columnar

  6. Adenoid cystic carcinoma of the minor salivary glands

    International Nuclear Information System (INIS)

    Kwon, Kyung Yun; Lee, Kyung Ho; Kim, Dong Youn; Choi, Karp Shik

    1997-01-01

    Adenoid cystic carcinoma is a malignant salivary gland tumor with typical histologic patterns. The majority of the se tumors occurs in the minor salivary glands, especially mucosa of the hard palate. The authors experienced the patients, who complained the tumor-like soft tissue masses on the palatal and mouth floor area. After careful analysis of clinical, radiological and histopathological findings, we diagnosed them as adenoid cystic carcinomas in the minor salivary glands, obtained results were as follows : 1. Main clinical symptoms were a slow growing soft tissue mass with normal intact mucosa on the palatal area, and soft tissue mass with mild pain on the mouth floor area. 2. In the radiographic examinations, soft tissue masses were observed with invasion to adjacent structures, and moderate defined, heterogeneous soft tissue mass with enhanced margin, respectively. 3. In the histopathologic examinations, dark-stained, small uniform ballad's cells in the hyaline or fibrous stroma were observed as solid and cribriform patterns, respectively.

  7. Traumatic pulmonary pseudocysts mimicking a congenital malformation of the lung

    Directory of Open Access Journals (Sweden)

    Alexander Ngoo

    2018-02-01

    Full Text Available Traumatic Pulmonary Pseudocysts (TPPs are a rare consequence of thoracic trauma that is seen disproportionately in young adults and paediatric populations. In this case report, we detail a case of a TPP initially misdiagnosed on imaging as a Congenital Cystic Adenomatoid Malformation (CCAM. Conservative management and monitoring for resolution of TPP is highly effective as in most cases it self-resolves without issue or need for intervention. This contrasts with the surgical treatment often indicated for symptomatic CCAMs. Clearly, failure to recognize TPP as a rare but important differential of pulmonary cystic lesions in the context of trauma can lead to significant distress for the patient's family, over investigation and unnecessary or harmful interventions. We also review in this article the literature surrounding the radiological appearances, clinical features and management of both conditions.

  8. Congenital heat disease

    International Nuclear Information System (INIS)

    Higgins, C.B.; Silverman, N.H.; Kersting-Somerhoff, B.A.

    1990-01-01

    The book covers the tomographic anatomy of the normal and congenitally malformed heart and tomographic imaging of the normal heat. It then compares echocardiographic evaluation and the use of MR imaging in the diagnosis and evaluation of individual congenital cardiac malformations

  9. Prenatal diagnosis of meconium ileus and meconium peritonitis: Indications for cystic fibrosis testing

    Directory of Open Access Journals (Sweden)

    Egić Amira

    2011-01-01

    Full Text Available Introduction. More recently, the regions of increased abdominal echogenicity such as echogenic bowel, meconium ileus and meconium peritonitis have been associated with an increased prevalence of a variety of unfavourable outcomes including chromosomal abnormalities, cytomegalovirus infection, intestinal obstruction, anorectal malformations and cystic fibrosis. Earlier prenatal examinations of these severe autosomal recessive diseases had been suggested only to families with history of cystic fibrosis. Recently, systemic examination has been introduced by ultrasound with bowel hyperechogenicity where the fetus is the index case for genetic disease. Risk for cystic fibrosis with this ultrasonography findings ranges from 0-33%. Outline of Cases. Two patients are presented, aged 24 and 29 years, both primigravide. The first one had ultrasonography finding of meconium peritonitis revealed at the 37th week of gestation and the other meconium ileus revealed on ultrasonography at the 29th week of gestation. Both patients had prenatal testing of foetal blood obtained by cordocenthesis, both had normal kariotype and were negative for cytomegalovirus infection. Parental DNA testing for the 2nd patient showed that parents were not carriers for the 29 most frequent mutations. Both neonates had intestinal obstruction, underwent surgery and early postoperative course was normal. Hystopathological finding suggested a possibility of cystic fibrosis for the 1st patient, but parents did not want to be tested and for the 2nd one congenital bowel stenosis as a cause of intestinal obstruction. Conclusion. Ultrasonographic echogenic bowel is an indication for invasive procedures for foetal blood testing for chromosomal abnormalities, congenital infections and parental testing for cystic fibrosis. Only if parental heterozygosity is proven foetus should be tested.

  10. Congenital lobar emphysema in a kitten.

    Science.gov (United States)

    Blonk, M; Van de Maele, I; Combes, A; Stablay, B; De Cock, H; Polis, I; Rybachuk, G; de Rooster, H

    2017-11-01

    A five-month-old ragdoll cat presented with severe respiratory signs, unresponsive to medical therapy. Hyperinflation of the right middle lung lobe was diagnosed with radiography and computed tomography. Lung lobectomy following a median sternotomy led to full recovery. Histopathological analysis revealed lobar emphysema and, based on the animal's age, congenital lobar emphysema was considered the most likely diagnosis. © 2017 British Small Animal Veterinary Association.

  11. Ultrasonographi assessment of congenital adrenal masses

    International Nuclear Information System (INIS)

    Muro Velilla, D.; Sanguesa, C.; Alberto, C.; Lopez, A., Benlloch, C.

    1996-01-01

    The demonstrate the utility of ultrasound (US) in the initial assessment and follow-up of newborns with adrenal masses. A series of 21 newborns presenting adrenal mass studied on the basis of US findings, clinical assessment and biochemical data. Seven patients had congenital neuroblastoma, two had a benign tumor and twelve presented adrenal hemorrhage. Postnatal US study of the course of these patients is essential for the differential diagnosis of their lesions when not diagnosed prenatally. (Author) 20 refs

  12. MRI of cystic pituitary tumors

    Energy Technology Data Exchange (ETDEWEB)

    Tokunaga, Hitoshi; Hoshi, Seiichiro; Sunada, Souichi; Sunami, Kenro [Kawatetsu Chiba Hospital (Japan); Saeki, Naokatsu; Yamaura, Akira

    1998-11-01

    We retrospectively reviewed MRI findings of 17 patients with 3 histologically proven cystic pituitary tumors. They consisted of 10 cystic pituitary adenomas, 4 craniopharyngiomas and 3 Rathke`s cleft cysts. We analyzed the following MRI parameters such as cyst wall appearance, enhancement pattern of cyst wall, location of residual pituitary gland and location of tumor. They were clinically significant parameters for histological differentiation. Even though combinations of such MRI parameters helped for more accurate preoperative diagnosis, the differentiation between craniopharyngioma and Rathke`s cleft cyst was difficult in some cases. (author)

  13. MRI of cystic pituitary tumors

    International Nuclear Information System (INIS)

    Tokunaga, Hitoshi; Hoshi, Seiichiro; Sunada, Souichi; Sunami, Kenro; Saeki, Naokatsu; Yamaura, Akira

    1998-01-01

    We retrospectively reviewed MRI findings of 17 patients with 3 histologically proven cystic pituitary tumors. They consisted of 10 cystic pituitary adenomas, 4 craniopharyngiomas and 3 Rathke's cleft cysts. We analyzed the following MRI parameters such as cyst wall appearance, enhancement pattern of cyst wall, location of residual pituitary gland and location of tumor. They were clinically significant parameters for histological differentiation. Even though combinations of such MRI parameters helped for more accurate preoperative diagnosis, the differentiation between craniopharyngioma and Rathke's cleft cyst was difficult in some cases. (author)

  14. Cystic meningiomas in 2 dogs

    International Nuclear Information System (INIS)

    Bagley, R.S.; Kornegay, J.N.; Lane, S.B.; Thrall, D.L.; Page, R.L.

    1996-01-01

    Two dogs with signs of forebrain disease had hypodense lesions on computed tomography evaluation. Magnetic resonance imaging of the first dog showed a hypointense lesion on the T1-weighted scan and a hyperintense lesion on T2-weighted scanning. At surgery, both dogs had a primary cystic intracranial lesion, and the abnormal tissue adjacent to the cyst had histological features of meningioma. Each dog underwent whole brain irradiation after surgery, and 1 dog lived for 3 years after treatment. While uncommon, meningioma should be considered as a differential diagnosis in dogs with cystic intracranial lesions

  15. Cystic neuroblastoma: a case report

    International Nuclear Information System (INIS)

    Duran, A.; Lorente, M.L.; Fernandez, C.

    1997-01-01

    Neuroblastoma is the most common neonatal malignant tumor. Hemorrhage and necrosis are usual features of this lesion, but it rarely presents a totally cyst form. We report a case of cystic neuroblastoma detected on prenatal ultrasound and stress the need to include it in the differential diagnosis of cystic abdominal masses in the newborn. Ultrasound is the method of choice for assessing abdominal masses in children. However, magnetic resonance has been shown to be more advantageous for the study and follow-up of neuroblastomas. (Author) 16 refs

  16. 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.

  17. 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

  18. Improved quality of life after lung transplantation in individuals with cystic fibrosis

    NARCIS (Netherlands)

    Vermeulen, KM; van der Bij, W; Erasmus, ME; Duiverman, EJ; Koeter, GH; TenVergert, EM

    The aim of the present study was to assess the effect of lung transplantation (LgTX) on health-related quality of life (HRQL) in a group of patients with cystic fibrosis (CF), compared to patients with other diagnoses (non-CF). HRQL was assessed before transplantation in a group of 32 CIF patients

  19. CT diagnosis of cystic echinococcosis in pelvis

    International Nuclear Information System (INIS)

    Liu Wenya; Li Li; Xing Yan; Xie Jingxia

    2003-01-01

    Objective: To analyze the CT findings of pelvic cystic echinococcosis, and to assess the value of CT examination. Methods: Twenty-one cases of pelvic cystic echinococcosis, confirmed by clinical and pathological results, underwent CT scanning. CT characters were analyzed and compared with pathology. Results: Simple cystic echinococcosis appeared as single or multiple cystic lesions with round or oval shape, smooth boundary, and no enhancement after contrast medium administration in 3 cases; Different number and size of daughter cysts were detected inside the lesion in 17 cases; Ruptured lesions showed 'double wall', 'water snake', or 'flow ribbon' signs in 4 cases; Increase density of contents and enhanced cystic wall were demonstrated in 2 cases with companied infections. In 8 cases, calcification occurred on the cystic wall or extended inside the content. Conclusion: CT could accurately demonstrate the location, appearance, internal structure, and adjacent situation of the cystic echinococcosis, providing valuable information for correct diagnosis and treatment

  20. An adult cystic fibrosis patient presenting with persistent dyspnea: case report

    Directory of Open Access Journals (Sweden)

    Farinet Catherine L

    2006-05-01

    Full Text Available Abstract Background Persistent dyspnea is a common finding in the cystic fibrosis patient that typically leads to further work up of an alternative pulmonary etiology. Adult cystic fibrosis patients; however, are growing in numbers and they are living into the ages in which coronary artery disease becomes prevalent. Coronary disease should be included in the consideration of diagnostic possibilities. Case presentation A 52-year-old white male with cystic fibrosis was evaluated for exertional dyspnea associated with vague chest discomfort. Diagnostic testing revealed normal white blood cell, hemoglobin and platelet count, basic metabolic panel, fasting lipid profile, HbA1c, with chest radiograph confirming chronic cystic findings unchanged from prior radiographs and an electrocardiogram that revealed sinus rhythm with left anterior fascicular block. Stress thallium testing demonstrated a reversible anteroseptal perfusion defect with a 55% left ventricular ejection fraction. Heart catheterization found a 99% occlusion of the left anterior descending artery extending into the two diagonal branches, with 100% obstruction of the left anterior descending artery at the trifurcation and 70% lesion affecting the first posterior lateral branch of the circumflex artery. Conclusion This case report represents the first description in the medical literature of a cystic fibrosis patient diagnosed with symptomatic coronary artery disease. Applying a standard clinical practice guide proved useful toward evaluating a differential diagnosis for a cystic fibrosis patient presenting with dyspnea and chest discomfort.

  1. Adrenomyeloneuropathy associated with congenital cataract

    International Nuclear Information System (INIS)

    Komori, Tetsuo; Nagashima, Toshiko; Hirose, Kazuhiko; Tanabe, Hitoshi; Tsubaki, Tadao

    1988-01-01

    Two cases of adrenomyeloneuropathy (AMN) in a family and the results of their MRI study are reported. Case 1, a 24-year-old male proband, was admitted to our hospital because of gait disturbance for three years. Bilateral cataracts were pointed out at birth, which required left side lenticotomy at age four. Neurological examinations on admission revealed a marked spastic paraparesis with pathological reflexes and a mild hypesthesia in the distal part of the left leg. No abnormal findings were detected in X-ray studies on the spine and spinal cord, electromyography and nerve conduction test. Serum very long chain fatty acids (VLCFAs) levels were apparently elevated, and the serum cortisol response to ACTH was low. Case 2, a 53-year-old woman, is the mother of Case 1 having a complaint of gait disturbance since age 51. She presented a mild spastic paraparesis with localized hypesthesia in the distal part of the both legs. She also had bilateral congenital cataracts. Her serum VLCFAs analysis indicated the intermediate levels between that of AMN and the normal control. Adrenal functions were normal. Cranial MRI (TR 2,000 msec/TE 80 msec) study disclosed high signal intensity areas in bilateral internal capsules in Case 1. These findings, suggesting the pathological change of dysmyelination, seemed to be well compatible with the clinical pictures. With these clinical findings and the laboratory data, these two cases were diagnosed as AMN. In addition, association of congenital cataract with AMN in both cases was characteristic in this family, which hasn't been reported in the literature. On regarding the genetic background of these two disorders, AMN and congenital cataract, it was speculated that each gene could be closely located on the same or very adjacent locus, possibly on Xq. (author)

  2. Congenital cervical cysts, sinuses, and fistulae in pediatric surgery.

    Science.gov (United States)

    LaRiviere, Cabrini A; Waldhausen, John H T

    2012-06-01

    Congenital cervical anomalies are essential to consider in the clinical assessment of head and neck masses in children and adults. These lesions can present as palpable cystic masses, infected masses, draining sinuses, or fistulae. Thyroglossal duct cysts are most common, followed by branchial cleft anomalies and dermoid cysts. Other lesions reviewed include median ectopic thyroid, cervical teratomas, and midline cervical clefts. Appropriate diagnosis and management of these lesions requires a thorough understanding of their embryology and anatomy. Correct diagnosis, resolution of infectious issues before definitive therapy, and complete surgical excision are imperative in the prevention of recurrence. Copyright © 2012 Elsevier Inc. All rights reserved.

  3. [Genetic counseling in cystic fibrosis].

    Science.gov (United States)

    Julia, S; Bieth, E

    2000-08-01

    Genetic counseling is an important part of health care in patients with cystic fibrosis or respiratory diseases associated with the CFTR (cystic fibrosis transmembrane conductance regulator) gene, including certain types of allergic bronchopulmonary aspergilloses or bronchial diseases (diffuse bronchiectasia). The basic goal is to provide patients with information on the transmission of cystic fibrosis and to asses the risk of recurrence. This risk is determined from molecular biology analyses examining the CFTR gene. Genotyping is the only means of screening for the heterozygous state, frequent in the French population (about 1/30). Because of the large number of mutated alleles not covered entirely by the genetic tests, there remains a question of probability expressed as a residual risk of a heterozygous state. A prenatal genotype diagnosis should be proposed to heterozygous couples who have a 25% risk of having a diseased child. Technically, this is almost always possible and the results are highly reliable. Nevertheless, there remains the risks related to sample taking and the ethical issue about which the patients must be informed. Management of these at risk couples who desire a child must be based on a multidisciplinary approach, particularly important when one of the parents has overt cystic fibrosis.

  4. Cystic echinococcosis of the liver

    DEFF Research Database (Denmark)

    Branci, Sonia; Ewertsen, Caroline; Thybo, Søren

    2012-01-01

    Cystic echinococcosis (CE) of the liver can be treated with ultrasound-guided puncture, aspiration, injection, and re-aspiration (PAIR), with surgery and with benzimidazole derivatives. The aim of this study was to review available data concerning treatment modality and outcome for patients treated...

  5. Significance of MR imaging in congenital heart disease

    International Nuclear Information System (INIS)

    Mayr, H.; Globits, S.; Frank, H.; Glogar, D.; Nouhold, A.; Imhof, H.

    1989-01-01

    To determine the diagnostic impact of MR imaging in congenital heart disease, the authors used a 0.5- or 1.5-T magnet to examine 85 patients. Multisection spin-echo images were obtained in three planes. Diagnoses included atrial septal defect, trilogy and tetralogy of Fallot, ventricular septal defect, transposition (seven), single ventricle, and other complex disorders. Compared with other noninvasive techniques, MR imaging allowed a much better visualization of anatomic structures and the relationship of great vessels to shunt lesions in complex congenital heart disease. In 53 (63%) of 85 patients, MR imaging made a major contribution to establishing or modifying diagnoses

  6. CT differentiation of mucin-producing cystic neoplasms of the liver from solitary bile duct cysts.

    Science.gov (United States)

    Kim, Hyoung Jung; Yu, Eun Sil; Byun, Jae Ho; Hong, Seung-Mo; Kim, Kyoung Won; Lee, Jong Seok; Kim, So Yeon

    2014-01-01

    The purpose of this study was to identify the CT features required for differentiating mucin-producing cystic neoplasms of the liver (mucinous cystic neoplasms and cyst-forming intraductal papillary neoplasms of the bile duct) from solitary bile duct cysts. CT images of pathologically confirmed mucinous cystic neoplasms (n = 15), cyst-forming intraductal papillary neoplasms of the bile duct (n = 16), and solitary bile duct cysts (n = 31) were reviewed. Analysis of the CT findings included shape, presence of septa, location of septa (peripheral vs central), thickness of septa (thin vs thick), mosaic pattern, mural nodules, intracystic debris, calcification, upstream bile duct dilatation, downstream bile duct dilatation, and communication between a cystic lesion and the bile duct. The maximum size of a cystic lesion and the maximum size of the largest mural nodule were measured. The presence of septa, central septa, mural nodules, upstream bile duct dilatation, and downstream bile duct dilatation were found to be significant CT findings for differentiating mucinous cystic neoplasms and cyst-forming intraductal papillary neoplasms of the bile duct from solitary bile duct cysts (p bile duct were 87% (27 of 31) and 87% (27 of 31), respectively. When two of these five criteria were used in combination, the sensitivity and specificity for diagnosing mucinous cystic neoplasms and cyst-forming intraductal papillary neoplasms of the bile duct were 87% (27 of 31) and 87% (27 of 31), respectively [corrected]. With the use of specific CT criteria, mucin-producing cystic neoplasms of the liver can be differentiated from solitary bile duct cysts with a high degree of accuracy.

  7. [Italian Cystic Fibrosis Register - Report 2010].

    Science.gov (United States)

    Amato, Annalisa; Ferrigno, Luigina; Salvatore, Marco; Toccaceli, Virgilia

    2016-01-01

    The Italian National CF Registry (INCFR) is based on the official agreement between the clinicians of the Italian National Referral Centers for Cystic Fibrosis and the researchers of the Istituto Superiore di Sanità (National Center for Rare Diseases; National Center for Epidemiology, Surveillance and Health Care Promotion). OBJECTIVES The main aim of INCFR is to contribute to the improvement in CF patients health care and clinical management through: i. the estimates of CF prevalence and incidence in Italy; ii. the analyses of medium and long term clinical and epidemiological trends of the disesase; iii. the identification of the main health care needs at regional and national level to contribute to the Health Care programmes and to the distribution of resources. MATERIALS AND METHODS Analyses and results described in the present Report are referred to patients in charge to the Italian National Referral Centers for Cystic Fibrosis in 2010. Data were sent by Centers by means of a specific software (Camilla, Ibis Informatica). The Italian National Referral Centers for Cystic Fibrosis sent a total of 5,271 individual records; 1,112 records were excluded from the analyses due to restricted inclusion criteria. The total number of patients included in INCFR for analyses is 4,159. RESULTS INCFR database includes all prevalent cases at 1th January 2010 as well as all new diagnoses done in 2010. The present Report has been organized into 9 sections. 1. Demography: estimated 2010 CF prevalence was 7/100,000 residents in Italy; 52% of the patients were male, CF distribution showed higher frequency in patients aged 7 to 35 years. In 2010, 48.9% of the patients were more than 18 years old. 2. Diagnoses: most of the CF patients were diagnosed before two years of age (66.7%); a significant percentage of patients (11.4%) was diagnosed in adult-age. 3. New diagnoses (2010): new diagnoses were 168. Sixty-five percent of them was diagnosed before the second year of age and 17%in

  8. Congenital Splenic Cyst Treated with Percutaneous Sclerosis Using Alcohol

    International Nuclear Information System (INIS)

    Anon, Ramon; Guijarro, Jorge; Amoros, Cirilo; Gil, Joaquin; Bosca, Marta M.; Palmero, Julio; Benages, Adolfo

    2006-01-01

    We report a case of successful percutaneous treatment of a congenital splenic cyst using alcohol as the sclerosing agent. A 14-year-old female adolescent presented with a nonsymptomatic cystic mass located in the spleen that was believed to be congenital. After ultrasonography, a drainage catheter was placed in the cavity. About 250 ml of serous liquid was extracted and sent for microbiologic and pathologic studies to rule out an infectious or malignant origin. Immediately afterwards, complete drainage and local sclerotherapy with alcohol was performed. This therapy was repeated 8 days later, after having observed 60 ml of fluid in the drainage bag. One year after treatment the cyst has practically disappeared. We believe that treatment of splenic cyst with percutaneous puncture, ethanolization, and drainage is a valid option and it does not rule out surgery if the conservative treatment fails

  9. Magnetic resonance imaging of the brain in congenital cytomegalovirus infection

    International Nuclear Information System (INIS)

    Boesch, C.; Issakainen, J.; Kewitz, G.; Kikinis, R.; Martin, E.; Boltshauser, E.

    1989-01-01

    The children (age 2 months to 8 years) with a congenital cytomegalovirus (CMV) infection were studied by magnetic resonance imaging (MRI) using a 2.35 Tesla magnet. CMV infection was confirmed by serological investigations and virus culture in the neonatal period. Nine children had severe mental retardation and cerebral palsy, 1 patient suffered from microcephaly, ataxia and deafness. The cranial MRI examination showed the following abnormalities (N): Dilated lateral ventricles (10) and subarachnoid space (8), oligo/pacgyria (8), delayed/pathological myelination (7), paraventricular cysts (6), intra-cerebral calcification (1). This lack of sensitivity for calcification is explainable by the basic principles of MRI. The paraventricular cystic lesions were adjacent ot the occipital horns of the lateral ventricles and separated only by a thin membrane. This finding might represent a 'new sign' for congenital CMV infection in MRI examinations, being characteristic but nevertheless nonspecific, like calcification in CT. (orig.)

  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. Congenital generalized lipodystrophia: a case report; Lipodistrofia generalizada congenita: relato de um caso

    Energy Technology Data Exchange (ETDEWEB)

    Malheiros, N.R.; Marchiori, E.; Praxedes, M.C.; Machado, D.M.; Carvalho, A.A.V. [Universidade Federal Fluminense, Niteroi, RJ (Brazil). Dept. de Radiologia

    1995-01-01

    Congenital generalized lipodystrophia is a rare genetic disorder, transmitted as an autosomal recessive trait and is prevalent on female. This paper presents a case of a man, 36-year-old, suffering from congenital generalized lipodystrophia with clinical features of diabetes mellitus and dyspnea. Radiographic findings have shown cystic areas in the skeleton, interstitial pulmonary fibrosis and paucity of abdominal fat. Radiological and anatomo-pathological aspects are presented as well as a review of the medical literature about the case. (author). 8 refs, 4 figs.

  12. Chest CT features of cystic fibrosis in Korea: Comparison with non-cystic fibrosis diseases

    International Nuclear Information System (INIS)

    Yang, So Yeon; Lee, Kyung Soo; Kim, Tae Jung; Kim, Tae Sung; Cha, Min Jae; Yoon, Hyun Jung

    2017-01-01

    Cystic fibrosis (CF) is a rare congenital disease in Korea, and its clinical and imaging findings are unclear. The objective of our study was to describe the clinical and CT features of CF in Korea and compare its features with those of other diseases mimicking CF. From November 1994 to December 2014, a presumptive diagnosis of CF was made in 23 patients based on clinical or radiological examination. After the exclusion of 10 patients without diagnostic confirmation, 13 patients were included in the study. A diagnosis of CF was made with the CF gene study. CT findings were evaluated for the presence and distribution of parenchymal abnormalities including bronchiectasis, tree-in-bud (TIB) pattern, mucus plugging, consolidation, and mosaic attenuation. Of the 13 patients, 7 (median age, 15 years) were confirmed as CF, 4 (median age, 19 years) had primary ciliary dyskinesia, 1 had bronchiectasis of unknown cause, and 1 had chronic asthma. CT of patients with CF showed bilateral bronchiectasis, TIB pattern, mosaic attenuation, and mucus plugging in all patients, with upper lung predominance (57%). In CT of the non-CF patients, bilateral bronchiectasis, TIB pattern, mosaic attenuation, and mucus plugging were also predominant features, with lower lung predominance (50%). Korean patients with CF showed bilateral bronchiectasis, cellular bronchiolitis, mucus plugging, and mosaic attenuation, which overlapped with those of non-CF patients. CF gene study is recommended for the definitive diagnosis of CF in patients with these clinical and imaging features

  13. Chest CT features of cystic fibrosis in Korea: Comparison with non-cystic fibrosis diseases

    Energy Technology Data Exchange (ETDEWEB)

    Yang, So Yeon; Lee, Kyung Soo; Kim, Tae Jung; Kim, Tae Sung [Dept. of Radiology, and Center for Imaging Science, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of); Cha, Min Jae [Dept. of Radiology, Chung-Ang University Hospital, Chung-Ang University College of Medicine, Seoul (Korea, Republic of); Yoon, Hyun Jung [Dept. of Radiology, Hanyang University Hospital, Hanyang University College of Medicine, Seoul (Korea, Republic of)

    2017-01-15

    Cystic fibrosis (CF) is a rare congenital disease in Korea, and its clinical and imaging findings are unclear. The objective of our study was to describe the clinical and CT features of CF in Korea and compare its features with those of other diseases mimicking CF. From November 1994 to December 2014, a presumptive diagnosis of CF was made in 23 patients based on clinical or radiological examination. After the exclusion of 10 patients without diagnostic confirmation, 13 patients were included in the study. A diagnosis of CF was made with the CF gene study. CT findings were evaluated for the presence and distribution of parenchymal abnormalities including bronchiectasis, tree-in-bud (TIB) pattern, mucus plugging, consolidation, and mosaic attenuation. Of the 13 patients, 7 (median age, 15 years) were confirmed as CF, 4 (median age, 19 years) had primary ciliary dyskinesia, 1 had bronchiectasis of unknown cause, and 1 had chronic asthma. CT of patients with CF showed bilateral bronchiectasis, TIB pattern, mosaic attenuation, and mucus plugging in all patients, with upper lung predominance (57%). In CT of the non-CF patients, bilateral bronchiectasis, TIB pattern, mosaic attenuation, and mucus plugging were also predominant features, with lower lung predominance (50%). Korean patients with CF showed bilateral bronchiectasis, cellular bronchiolitis, mucus plugging, and mosaic attenuation, which overlapped with those of non-CF patients. CF gene study is recommended for the definitive diagnosis of CF in patients with these clinical and imaging features.

  14. Congenital Heart Disease: Causes, Diagnosis, Symptoms, and Treatments.

    Science.gov (United States)

    Sun, RongRong; Liu, Min; Lu, Lei; Zheng, Yi; Zhang, Peiying

    2015-07-01

    The congenital heart disease includes abnormalities in heart structure that occur before birth. Such defects occur in the fetus while it is developing in the uterus during pregnancy. About 500,000 adults have congenital heart disease in USA (WebMD, Congenital heart defects medications, www.WebMD.com/heart-disease/tc/congenital-heart-defects-medications , 2014). 1 in every 100 children has defects in their heart due to genetic or chromosomal abnormalities, such as Down syndrome. The excessive alcohol consumption during pregnancy and use of medications, maternal viral infection, such as Rubella virus, measles (German), in the first trimester of pregnancy, all these are risk factors for congenital heart disease in children, and the risk increases if parent or sibling has a congenital heart defect. These are heart valves defects, atrial and ventricular septa defects, stenosis, the heart muscle abnormalities, and a hole inside wall of the heart which causes defect in blood circulation, heart failure, and eventual death. There are no particular symptoms of congenital heart disease, but shortness of breath and limited ability to do exercise, fatigue, abnormal sound of heart as heart murmur, which is diagnosed by a physician while listening to the heart beats. The echocardiogram or transesophageal echocardiogram, electrocardiogram, chest X-ray, cardiac catheterization, and MRI methods are used to detect congenital heart disease. Several medications are given depending on the severity of this disease, and catheter method and surgery are required for serious cases to repair heart valves or heart transplantation as in endocarditis. For genetic study, first DNA is extracted from blood followed by DNA sequence analysis and any defect in nucleotide sequence of DNA is determined. For congenital heart disease, genes in chromosome 1 show some defects in nucleotide sequence. In this review the causes, diagnosis, symptoms, and treatments of congenital heart disease are described.

  15. Congenital Constriction Band Syndrome

    OpenAIRE

    Rajesh Gupta, Fareed Malik, Rishabh Gupta, M.A.Basit, Dara Singh

    2008-01-01

    Congenital constriction bands are anomalous bands that encircle a digit or an extremity. Congenitalconstriction band syndrome is rare condition and is mostly associated with other musculoskeletaldisorders.We report such a rare experience.

  16. Congenital anterior urethral diverticulum

    International Nuclear Information System (INIS)

    Jung, Hyun Sub; Chung, Young Sun; Suh, Chee Jang; Won, Jong Jin

    1985-01-01

    Two cases of congenital anterior urethral diverticular which have occurred in a 4 year old and one month old boy are presented. Etiology, diagnostic procedures, and its clinical results are briefly reviewed

  17. Transvaginal sonographic appearance of cystic adnexal masses in postmenopausal women

    International Nuclear Information System (INIS)

    Cho, Hyeun Cha; Lee, Myung Sook

    2000-01-01

    To Analyze the transvaginal ultrasonographic(TVUS)findings of the cystic adnexal masses in postmenopausal women for differentiation of benign and malignant masses. We retrospectively reviewed the TVUS images of surgically proven 142 cystic adnexal masses in 125 patients. The masses were classified according to the pathologic findings. The size, the internal echogenicity, the internal septation, the external wall of the masses on US were analyzed and scored using Multicenter scoring system. Serum CA-125 concentration was also recorded. At surgery of 142 masses, 125 benign (88%), and 17 borderline/malignant masses (12%) were found. Among 125 benign masses, 88 masses were larger than 5 cm, 125 had smooth external wall, 109 had absence or thin internal septation, and 107 had anechoic or homogenous low internal echogenicity. Of the 17 borderline/malignant masses, there were 17 masses larger than 5 cm, 2 with smooth external wall, 12 without or with thin internal septation, and 7 with anechoic or homogenous low internal echogenicity. Multicenter score was below 8 in all benign masses, and in 4 borderline/malignant masses. Serum CA-125 concentration with normal range was in 90 patients with benign masses, and in 2 patients with borderline/malignant masses. Cystic adnexal masses with smooth external wall and internal septation, internal echogenic portion less than 10%, score below 8 on TVUS would be diagnosed as benign masses in postmenopausal women with normal serum CA-125 concentration.

  18. The MRI appearance of cystic lesions around the knee

    International Nuclear Information System (INIS)

    McCarthy, Catherine L.; McNally, Eugene G.

    2004-01-01

    This review presents a comprehensive illustrated overview of the wide variety of cystic lesions around the knee. The aetiology, clinical presentation, MRI appearances and differential diagnosis are discussed. Bursae include those related to the patella as well as pes anserine, tibial collateral ligament, semimembranosus-tibial collateral ligament, iliotibial and fibular collateral ligament-biceps femoris. The anatomical extension, imaging features and clinical significance of meniscal cysts are illustrated. Review of ganglia includes intra-articular, extra-articular, intraosseous and periosteal ganglia, highlighting imaging findings and differential diagnoses. The relationship between proximal tibiofibular joint cysts and intraneural peroneal nerve ganglia is discussed. Intraosseous cystic lesions, including insertional and degenerative cysts, as well as lesions mimicking cysts of the knee are described and illustrated. Knowledge of the location, characteristic appearance and distinguishing features of cystic masses around the knee as well as potential imaging pitfalls such as normal anatomical recesses and atypical cyst contents on MR imaging aids in allowing a specific diagnosis to be made. This will prevent unnecessary additional investigations and determine whether intra-articular surgery or conservative management is appropriate. (orig.)

  19. Rupture of Ovarian Mature Cystic Teratoma: Computerized Tomography Findings

    International Nuclear Information System (INIS)

    Sebastia, C.; Sarrias, M.; Sanchez-Aliaga, E.; Quiroga, S.; Boye, R.; Alvarez-Castells, A.

    2004-01-01

    We present computed tomography findings of three cases of intraperitoneal rupture of ovarian mature cystic teratoma. Acute-phase radiological findings include presence of intraabdominal liquid, infiltration of mesenteric fat and calcified pelvic mass which also showed interior fatty content. Chronic-phase findings include infiltration of peritoneal fat, as well as increase in the size of adjacent ganglion due to chronic inflammatory response to histologically verified foreign bodies. Differential diagnoses between chronic and acute intraperitoneal ruptures of mature teratoma have been reviewed. (Author)

  20. Tracheal adenoid cystic carcinoma masquerading asthma: A case report

    Directory of Open Access Journals (Sweden)

    Kurul Cuneyt

    2004-10-01

    Full Text Available Abstract Background Tracheal tumors are often misdiagnosed as asthma and are treated with inhaled steroids and bronchodilators without resolution. Case Presentation Here, a patient with tracheal adenoid cystic carcinoma who had been previously diagnosed with difficult asthma was reported. The possibility of the presence of localized airway obstruction was raised when the flow-volume curve suggesting fixed airway obstruction, was obtained. Conclusion The presenting case report emphasizes the fact that not all wheezes are asthma. It is critical to bear in mind that if a patient does not respond to appropriate anti-asthma therapy, localized obstructions should be ruled out before establishing the diagnosis of asthma.

  1. Postoperative follow-up studies in congenital dilatation of the common bile duct using hepatobiliary scintigraphy

    Energy Technology Data Exchange (ETDEWEB)

    Hirobe, Seiichi; Ishida, Haruo; Hayashi, Akira; Kamagata, Shoichiro; Fuchimoto, Yasufumi; Mizuno, Dai; Yano, Tsunehiro [Tokyo Metropolitan Kiyose Children`s Hospital (Japan); Ishii, Katsumi

    1995-03-01

    Follow-up studies in congenital dilatation of the common bile duct were done in 20 cases ranging 3 to 20 years after operation. Operative cholangiography had shown dilatation of the intrahepatic bile ducts in 15 patients (75%), of these, 7 patients had cystic dilatation. Five cases of these 7 patients showed prolonged stasis of the nuclide in the cystic dilated intrahepatic bile ducts by {sup 99m}Tc-PMT hepatobiliary scintigraphy in the follow-up studies even at 10 years after operation. But none of 20 cases had complication such as intrahepatic lithiasis, cholangitis, and liver dysfunction. Hepatobiliary scintigraphy could provide moderate anatomic and excellent functional information which were useful for these follow-up studies and careful follow-up should be done in the case of cystic dilatation of the intrahepatic bile ducts. (author).

  2. Radiology, histology and short-term outcome of asymptomatic congenital thoracic malformations

    DEFF Research Database (Denmark)

    Kongstad, Thomas; Buchvald, Frederik; Brenøe, Jørn

    2012-01-01

    The aim of this study was to evaluate the safety and short-term outcome of our management of asymptomatic children with antenatally diagnosed congenital thoracic malformations (CTM), compared with recommendations from a recent review and meta-analysis....

  3. Congenital chylous ascites

    International Nuclear Information System (INIS)

    Romanska-Kita, J.; Borszewska-Kornacka, M. K.; Rudzinska, I.; Wawrzoniak, T.; Dobrzanska, A.; Czech-Kowalska, J.

    2011-01-01

    Congenital chylous ascites is a rare entity, conditioned by numerous factors and with changing dynamics of the disease. Because of the lack of therapeutic and diagnostic standards, this disease constitutes to be a medical challenge. This article presents current knowledge on pathogenesis, diagnostics and management of this disease, as well as a case of a newborn with primary congenital chylous ascites in the abdominal cavity. (authors)

  4. 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. © 2016 Wiley Periodicals, Inc.

  5. Recommendations for quality improvement in genetic testing for cystic fibrosis European Concerted Action on Cystic Fibrosis

    NARCIS (Netherlands)

    Dequeker, E; Cuppens, H; Dodge, J; Estivill, [No Value; Goossens, M; Pignatti, PF; Scheffer, H; Schwartz, M; Schwarz, M; Tummler, B; Cassiman, JJ

    These recommendations for quality improvement of cystic fibrosis genetic diagnostic testing provide general guidelines for the molecular genetic testing of cystic fibrosis in patients/individuals. General strategies for testing as well as guidelines for laboratory procedures, internal and external

  6. Congenital pulmonary airway malformation with mucoepidermoid carcinoma: A case report and review of literature

    Directory of Open Access Journals (Sweden)

    Narayanappa Harini

    2012-01-01

    Full Text Available Congenital cystic adenomatoid malformations (CCAM are rare developmental anomalies of the lung characterized by cysts of varying sizes and/or adenomatoid proliferation. Type I CCAM, the most frequent subtype, is associated with an increased incidence of malignant transformation, principally bronchioloalveolar carcinoma, with a reported incidence of around 1%. We report the first case of mucoepidermoid carcinoma arising in a type 1 CCAM.

  7. Evolution of nursing diagnoses for children with congenital heart disease Evolución de los diagnósticos enfermeros de niños con cardiopatías congénitas Evolução dos diagnósticos de enfermagem de crianças com cardiopatias congênitas

    Directory of Open Access Journals (Sweden)

    Viviane Martins da Silva

    2006-08-01

    Full Text Available We aimed to describe the evolution in nursing diagnoses for children with congenital heart disease. This longitudinal study was carried out from July to November of 2004. The sample consisted of 45 children interned in a public hospital in Fortaleza, Brazil, followed during fifteen days. In this period, we accomplished six diagnostic evaluations and found 21 nursing diagnoses. Six of these showed greater oscillations in their occurrence over time: Ineffective breathing pattern, Activity intolerance, Ineffective airway clearance, Hyperthermia, Sleep pattern disturbance, Risk for activity intolerance. Five parametric models were constructed in the time domain, with a view to predicting the occurrence of the nursing diagnoses. Knowledge about the temporal evolution in individuals' responses can guide nursing care towards the client's real needs.Se objetivó describir la evolución de los diagnósticos enfermeros en niños portadores de cardiopatías congénitas. Estudio longitudinal desarrollado en los meses de julio a noviembre del 2004. La muestra fue compuesta por 45 niños ingresados en un hospital de la red pública del municipio de Fortaleza, Brasil, acompañados durante quince días de internamiento. En el período, llevamos a cabo seis evaluaciones diagnósticas, encontrando 21 diagnósticos enfermeros. Entre los diagnósticos, seis evidenciaron mayores oscilaciones en sus trayectorias de ocurrencia en el tiempo: Patrón respiratorio ineficaz, Intolerancia a la actividad, Limpieza ineficaz de las vías aéreas, Hipertermia, Deterioro del patrón de sueño y Riesgo de intolerancia a la actividad. Se construyeron cinco modelos paramétricos en el dominio del tiempo, con vistas a predecir la ocurrencia de esos diagnósticos enfermeros. Concluimos que el conocimiento de la evolución temporal de las respuestas del individuo puede dirigir los cuidados de enfermería para las reales necesidades del cliente.Objetivou-se descrever a evolução dos

  8. Congenital diseases and syndromes. An illustrated radiological guide

    Energy Technology Data Exchange (ETDEWEB)

    Al-Tubaikh, Jarrah Ali [Universitaetsklinikum Muenchen, Klinikum Grosshadern (Germany). Inst. fuer Klinische Radiologie; Sabah Hospital (Kuwait). Dept. of Diagnostic Radiology; Reiser, Maximilian F. [Universitaetsklinikum Muenchen, Klinikum Grosshadern (Germany). Inst. fuer Klinische Radiologie

    2009-07-01

    Congenital Diseases and Syndromes - An Illustrated Radiological Guide is designed to serve the radiologist as an easy-to-use visual guide that illustrates the typical diagnostic radiological features of the most common congenital diseases and syndromes. The book is organised according to body system, with chapters focusing on the CNS, the head and neck, the chest and heart, the abdomen and pelvis, and the musculoskeletal system. A final chapter is devoted to phakomatosis. Each syndrome or disease is illustrated by multiple images as well as by high-quality digital medical illustrations depicting those radiological signs that are difficult to detect. The reader is thereby familiarised with the various congenital anomalies from the radiological point of view. In addition, etiology, diagnostic criteria, and main symptoms are described, and potential differential diagnoses highlighted. This book will be immensely useful for junior radiologists, radiology students, and doctors in any specialty who are interested in congenital malformations and syndromes. (orig.)

  9. Prenatal diagnosis and perinatal management of congenital hydrocephalus using MRI

    International Nuclear Information System (INIS)

    Hamada, Hiromi; Koresawa, Mitsuhiko; Kubo, Takeshi

    1990-01-01

    We studied congenital hydrocephalus in 14 patients who were diagnosed prenatally. As a result, we obtained the following insights concerning the prenatal diagnosis by MRI (magnetic resonance imaging) and perinatal management of congenital hydrocephalus. Accurate diagnosis of congenital hydrocephalus was impossible prenatally by two-dimensional ultrasonography or computed tomography alone in some patients. MRI was useful for accurate prenatal diagnosis. Problem of MRI in prenatal diagnosis included deterioration of the image by fetal movements and safety concern over the fetus. The cause of hydrocephalus, complicated anomaly, cerebral cortical thickness, and gestational age must be considered in the perinatal management of congenital hydrocephalus. There appeared to be a chance of recovery to a certain extent from thinning of cerebral cortex by decompression in a patient in whom dilation of cerebral ventricles progressed rapidly. (author)

  10. Maternal smoking in pregnancy and risk for congenital malformations

    DEFF Research Database (Denmark)

    Leite, Mimmi; Albieri, Vanna; Kjaer, Susanne K.

    2014-01-01

    and registered in the Danish Medical Birth Register containing detailed information on smoking during pregnancy and congenital malformations. METHODS: Associations [odds ratios (OR) with 95% CI] between maternal smoking and risk for various groups of congenital malformations, investigated using the generalized.......e. when two or more malformations are diagnosed in a child) (odds ratio 1.06, 95% confidence interval 1.01-1.10) and various main groups of congenital malformations including the cardiovascular system (odds ratio 1.13, 95% confidence interval 1.07-1.19), the respiratory system (odds ratio 1.25, 95......% confidence interval 1.11-1.41), the digestive system (odds ratio 1.15, 95% confidence interval 1.07-1.24) and oral clefts (odds ratio 1.29, 95% confidence interval 1.14-1.46), as well as for some specific congenital malformations including cardiac septal defects, malformations of the pulmonary and tricuspid...

  11. Congenital diseases and syndromes. An illustrated radiological guide

    International Nuclear Information System (INIS)

    Al-Tubaikh, Jarrah Ali; Sabah Hospital; Reiser, Maximilian F.

    2009-01-01

    Congenital Diseases and Syndromes - An Illustrated Radiological Guide is designed to serve the radiologist as an easy-to-use visual guide that illustrates the typical diagnostic radiological features of the most common congenital diseases and syndromes. The book is organised according to body system, with chapters focusing on the CNS, the head and neck, the chest and heart, the abdomen and pelvis, and the musculoskeletal system. A final chapter is devoted to phakomatosis. Each syndrome or disease is illustrated by multiple images as well as by high-quality digital medical illustrations depicting those radiological signs that are difficult to detect. The reader is thereby familiarised with the various congenital anomalies from the radiological point of view. In addition, etiology, diagnostic criteria, and main symptoms are described, and potential differential diagnoses highlighted. This book will be immensely useful for junior radiologists, radiology students, and doctors in any specialty who are interested in congenital malformations and syndromes. (orig.)

  12. Magnetic resonance imaging in congenital superior oblique palsy

    International Nuclear Information System (INIS)

    Sato, Miho; Kondo, Nagako; Awaya, Shinobu; Nomura, Hideki; Yagasaki, Teiji.

    1996-01-01

    MRI examinations were carried out on the defined congenital superior oblique palsy in order to distinguish the congenital and acquired palsies. Subjects were 19 patients diagnosed as congenital and their MRI images of 3 or 5 mm-thick coronary slice were taken. The volume of the oblique muscle was calculated from the images and a comparison was made between the diseased and healthy normal sides. The oblique muscle volume at the diseased side was found reduced in most of congenital superior oblique palsy patients. The reduction was observed even at childhood and was thus considered to be a malformation. Further, it is conceivable that the palsy could be caused by the abnormality in the central nervous system as well as by the present anatomical abnormality. (K.H.)

  13. Cystic form of rheumatoid arthritis

    Energy Technology Data Exchange (ETDEWEB)

    Dijkstra, P.F.; Gubler, F.M.; Maas, A.

    1988-10-01

    A nonerosive form of rheumatoid arthritis (R.A.) was found in 62 patients out of 660 patients with R.A.. These 62 patients exhibit slowly progressive cystic changes in about the same joints in which usually erosions develop in classic R.A.. The E.S.R. is often low, half of the patients remained seronegative and there are 35 males and 27 females in the group. A smaller group of 15 out of these patients could be followed from a stage wherein the radiographs were normal to a stage of extensive cystic changes, over a period of at least 6 years. An attempt is made to delineate this group within the rheumatoid arthritis disease entity.

  14. [Historical compilation of cystic fibrosis].

    Science.gov (United States)

    Navarro, Salvador

    2016-01-01

    Cystic fibrosis is the most common life-shortening recessively inherited disorder in the Caucasian population. The genetic mutation that most frequently provokes cystic fibrosis (ΔF508) appeared at least 53,000years ago. For many centuries, the disease was thought to be related to witchcraft and the "evil eye" and it was only in 1938 that Dorothy H. Andersen characterized this disorder and suspected its genetic origin. The present article reviews the pathological discoveries and diagnostic and therapeutic advances made in the last 75 years. The review ends with some considerations for the future. Copyright © 2015 Elsevier España, S.L.U. and AEEH y AEG. All rights reserved.

  15. Lactate in cystic fibrosis sputum

    DEFF Research Database (Denmark)

    Bensel, Tobias; Stotz, Martin; Borneff-Lipp, Marianne

    2011-01-01

    Antibiotic therapy is thought to improve lung function in patients with cystic fibrosis (CF) by decreasing neutrophil-derived inflammation. We investigated the origin and clinical significance of lactate in the chronically inflamed CF lung. Methods Lactate was measured in sputa of 18 exacerbated...... and 25 stable CF patients via spectrophotometry and gaschromatography. Lung function was assessed via spirometry. Seven patients with chronic obstructive pulmonary disease (COPD) and three patients with acute lung inflammation served as control groups. Neutrophil and bacterial lactate production...

  16. Updating Standard Procedures for Diagnosis and Treatment of Congenital Rubella Case

    Directory of Open Access Journals (Sweden)

    W. Buffolano

    2013-06-01

    Full Text Available Congenital Rubella is the dramatic consequence of rubella during gestation. A combined strategy of Measles and Rubella universal vaccination on children and selective vaccination of susceptible women has been shown effective in the elimination of congenital rubella requiring an incidence of <1 case of CRS per 100,000 live births. Verification processes of rubella elimination require that physicians early and appropriately diagnose all cases of congenital rubella, including those unpatent at birth. The paper highlights clinical and laboratory aspects channeling diagnosis of congenital rubella infection or syndrome even after the first year of life, and the short- and long-term management criteria.

  17. Otorhinolaryngologic manifestations of cystic fibrosis: literature review

    Directory of Open Access Journals (Sweden)

    Carvalho, Carolina Pimenta

    2008-12-01

    Full Text Available Introduction: Cystic Fibrosis is the most common recessive autosomic genetic disease among Caucasians. It's caused by mutations in the gene that decodes regulatory protein for transmembrane conductance, resulting in defective transport of chlorine. Objective: Review the literature about Cystic Fibrosis, with emphasis on otorhinolaryngologic manifestations. Method: The online Pub Med databases were researched and we applied the following search terms Fibrosis Cystic and Sinusitis, and Mucoviscidosis and Sinusitis. Conclusions: Although it is not the main cause of death, the otorhinolaryngologic manifestations of the Cystic Fibrosis bring important morbidity to these patients.

  18. Mental and behavioural disorders among people with congenital deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2011-01-01

    The population of people with congenital deafblindness faces challenges concerning communication and mobility. Due to the significance of the sensory loss it is difficult to diagnose mental and behavioral disorders. This article investigates the prevalence of mental and behavioral disorders among...... 95 congenitally deafblind adults. Seventy-four percent were found to have a mental and/or behavioral diagnose. Mental retardation was found among 34%, psychosis among 13%. Mental and behavioral disorders, especially with symptoms of psychosis and mental retardation, are common among people...... with congenital deafblindness. Clinical experience is needed, as well as cross-disciplinary cooperation and specialized diagnostic methods together with a observation and intervention period in order to be able to assess and differentiate mental and behavioral symptoms from sensory deprivation in people...

  19. [Recurrent benign cystic peritoneal mesothelioma].

    Science.gov (United States)

    Stroescu, C; Negulescu, Raluca; Herlea, V; David, L; Ivanov, B; Nitipir, Cornelia; Popescu, I

    2008-01-01

    The benign cystic peritoneal mesothelioma (BCPM) is a rare neoplasm affecting mainly females at reproductive age. The natural history and physiopathology of the BCPM are not entirely known. It is mainly characterized by the lack of malignant elements, no tendency to metastasis and by a pervasive tendency to generate local recurrences after surgical removal. The clinical manifestations are insidious, uncharacteristic; the benign cystic peritoneal mesothelioma is often discovered during a surgical procedure addressing another condition. Imaging tests can raise the suspicion of BCPM but the diagnostic can only be confirmed by histopathological examination corroborated with an immunohistochemical analysis. There are no long term studies dictating a single therapeutic attitude but a high risk of local recurrences and the possibility of transformation into malignant mesothelioma have lead to the current tendency towards an aggressive treatment of the tumor. We present the case of a recurrent benign cystic peritoneal mesothelioma in a 40 years old female patient, emphasizing the therapeutic approach and the role of radical surgery in the treatment of BPCM.

  20. Five cases of neurocysticercosis diagnosed in Sydney.

    Science.gov (United States)

    Walker, J; Chen, S; Packham, D; McIntyre, P

    1991-12-01

    Cysticercosis, once rare in Australia, is now more frequently diagnosed. This change reflects the countries of origin of new immigrants and the destinations of Australians travelling. Five cases of neurocysticercosis diagnosed at Westmead Hospital in Sydney are described. Two involved Australians, a father and son who had visited eastern and southeastern Asia 10 years before presentation. The other three included immigrants from Chile and India and a visitor from Timor. Ages ranged from 5 to 57 years. Three individuals presented after focal seizures involving the upper limb, one had a long standing history of neurological dysfunction and one suffered from persistent headaches. In all cases computed tomographic scanning (CT) or magnetic resonance imaging (MRI) revealed cystic brain lesions and three of the five were seropositive as well. Four were treated with praziquantel and in one the lesions regressed significantly following treatment. However, the lesion in one case had decreased in size prior to treatment and that in the untreated individual also became smaller.

  1. The Sociology and Entrenchment. A Cystic Fibrosis Test for Everyone?

    DEFF Research Database (Denmark)

    Koch, Lene; Stemerding, Dirk

    1994-01-01

    Socialmedicine, genetic screening, cystic fibrosis, ethics, political regulation, sociology of technology......Socialmedicine, genetic screening, cystic fibrosis, ethics, political regulation, sociology of technology...

  2. A rare case of cystic subepithelial tumor in the stomach: Gastric adenomyoma

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Ho Seok; Jang, Yun Jin; Heo, Jun [Kyungpook National University Hospital, Daegu (Korea, Republic of)

    2015-12-15

    Gastric adenomyoma is a rare benign subepithelial tumor, characteristically composed of mucosal structures and a prominent smooth muscle stroma. Because of rarity and the nonspecific computed tomography (CT) features, it is difficult to diagnose gastric adenomyoma before operation. In our case, gastric adenomyoma showed a well-circumscribed cystic subepithelial mass with uneven wall thickness on a CT scan, similar to the findings of former reports. The radiologic differential diagnosis can be narrowed down to several diseases, including duplication cysts, gastritis cystica profunda, brunner's gland hyperplasia and solid tumors with cystic degeneration. Also, adenomyoma could be included in the differential diagnosis of gastric cystic subepithelial masses, especially in the distal part of the stomach.

  3. Cystic fibroadenoma: report of a rare case with review of literature.

    Science.gov (United States)

    Bhat, Amoolya; Vijaya, C; Gowda, V S Shankare

    2015-01-01

    Fibroadenomas with a predominant cystic change are called cystic fibroadenomas. These are extremely rare forms of fibroadenomas and only one case has been reported so far. They are classified under the category of complex fibroadenomas. Complex fibroadenomas are a rare variant of fibroadenomas occurring in elderly females. They are characterized by presence of one of the complex features along with the usual patterns of fibroadenoma such as cysts more than 3 mm, papillary apocrine metaplasia, or sclerosing adenosis. Patients with these lesions have higher chances of developing carcinoma of breast. We present a case of 35 years old lady with a freely mobile mass in the left breast diagnosed as cystic fibroadenoma after thorough histopathological examination of the lesion.

  4. Congenital lumbar vertebrae agenesis in a lamb.

    Science.gov (United States)

    Farajli Abbasi, Mohammad; Shojaei, Bahador; Azari, Omid

    2017-01-01

    Congenital agenesis of lumbar vertebrae was diagnosed in a day-old female lamb based on radiology and clinical examinations. There was no neurological deficit in hindlimb and forelimb associated with standing disability. Radiography of the abdominal region revealed absence of lumbar vertebrae. Necropsy confirmed clinical and radiographic results. No other anomaly or agenesis was seen macroscopically in the abdominal and thoracic regions as well as vertebral column. Partial absence of vertebral column has been reported in human and different animal species, as an independent occurrence or associated with other organs anomalies. The latter has been designated as caudal regression syndrome. Vertebral agenesis may arise from irregularity in the differentiation of somites to the sclerotome or sclerotome to the vertebral primordium. Most of the previously reported cases of agenesis were related to the lumbosacral region, lonely or along with other visceral absences. This case was the first report of congenital agenesis of lumbar vertebrae in a lamb.

  5. Fractionated stereotactic radiotherapy for vestibular schwannoma (VS): Comparison between cystic-type and solid-type VS

    International Nuclear Information System (INIS)

    Shirato, Hiroki; Sakamoto, Touru; Takeichi, Norihito; Aoyama, Hidefumi; Suzuki, Keishiro; Kagei, Kenji; Nishioka, Takashi; Fukuda, Satoshi; Sawamura, Yutaka; Miyasaka, Kazuo

    2000-01-01

    Purpose: To compare the effectiveness and complications of fractionated stereotactic radiotherapy (SRT) for cystic-type vestibular schwannoma (VS) with those of solid-type VS. Methods and Materials: In 65 patients treated with fractionated SRT between 1991 and 1999, 20 were diagnosed with cystic VS, in which at least one-third of the tumor volume was a cystic component on magnetic resonance imaging (MRI), and 45 were diagnosed with solid VS. Thirty-six Gy to 50 Gy in 20-25 fractions was administered to the isocenter and approximately 80% of the periphery of the tumor. All cystic and solid components were included in the gross tumor volume. The mean follow-up period was 37 months, ranging from 6 to 97 months. Results: The actuarial 3-year rate of no episode of enlargement greater than 2.0 mm was 55% for cystic-type and 75% for solid-type VS; the difference was statistically significant (p 0.023). The actuarial 3-year tumor-reduction (reduction in tumor size greater than 2.0 mm) rates were 93% and 31%, respectively (p = 0.0006). The overall actuarial tumor control rate (no tumor growth greater than 2.0 mm after 2 years or no requirement of salvage surgery) was 92% at 5 years in 44 patients with a follow-up period of 2 or more years. There was no difference in the class hearing preservation rate between cystic VS and solid VS. No permanent trigeminal or facial nerve palsy was observed in either group. Conclusion: Transient tumor enlargement occurs in cystic VS more frequently than in solid-type VS, but the subsequent tumor-reduction rate in cystic VS is better.

  6. [Congenital mucocele of the ventral face of the tongue].

    Science.gov (United States)

    Nohuz, E; Gallot, D; Rousset, C; Brunel, A; Albaut, M; Bayeh, S; Vendittelli, F; Laurichesse-Delmas, H; Lemery, D

    2016-03-01

    Congenital cystic lesions of the oral cavity are an extremely rare occurrence. Their prenatal diagnosis is essential since they can impede respiratory and swallowing functions. We describe a case that was detected prenatally and discuss its management. A 21-year-old primigravida patient who was 23 weeks pregnant was referred to our obstetrics and gynecology center after fetal ultrasonography showed a cystic lesion of the oral cavity. She had no family history of any congenital anomalies. Ultrasonography showed a male fetus with an anechoic mass measuring 21×11 mm encompassing the entire oral cavity, evoking either a mucocele or a cystic hygroma. Magnetic resonance imaging (MRI) showed a fetus with a wide-open mouth, due to a well-demarcated protruding cystic mass with no solid component, suggestive of a mucocele. A prenatal sonographically guided percutaneous needle aspiration of mucous fluid was performed at 33 gestational weeks. Although the mucocele decreased significantly in size, it nevertheless continued to expand progressively. After an uncomplicated pregnancy, the patient had spontaneous onset of labor at 39 weeks of gestation. An iterative aspiration was performed in the same manner in utero, resulting in a complete collapse of the mucocele. If needed, intubation could be considered. A 3030-g male was born by vaginal delivery, without respiratory distress. Clinical examination showed the extremely opened mouth and confirmed the presence of a large cystic mass approximately 4 cm in diameter, of sublingual origin and encompassing the entire oral cavity. The continuous protrusion of the tongue was responsible for the infant's inability to close the mouth and be breastfed. After insertion of a feeding tube, the newborn had maxillofacial surgery consisting in marsupialization of the cyst at 2 days of age. The mucocele decreased in size and the postoperative course was uneventful. No recurrence was observed at 6 months' follow-up. Congenital mucoceles of the

  7. Imaging of congenital mesoblastic nephroma with pathological correlation

    International Nuclear Information System (INIS)

    Chaudry, Gulraiz; Perez-Atayde, Antonio R.; Ngan, Bo Yee; Gundogan, Munire; Daneman, Alan

    2009-01-01

    There are a variety of imaging findings for congenital mesoblastic nephroma (CMN) and two main pathological variants: classic and cellular. To determine whether imaging findings in children can predict the likely pathological variant. We reviewed imaging in children with pathology-proven CMN. Imaging findings correlated with gross and histological appearance. In 15 boys and 15 girls with CMN, US was performed in 27, CT in 19, and MRI in 7. Cystic components were readily identified on US; central hemorrhage was better differentiated on CT. MRI demonstrated high sensitivity for both. Histology confirmed classic CMN in 13 children, cellular CMN in 14 and ''mixed'' CMN in 3. Age at presentation was significantly higher in children with the cellular variant. Of 15 solid or predominantly solid tumors and 10 lesions with a hypoechoic ring, 12 and 7, respectively, had pathology consistent with classic CMN. In contrast, five of seven with intratumoral hemorrhage and all with a large cystic/necrotic component had pathology consistent with the cellular variant. The imaging appearance of CMN is often determined by the pathological type of tumor. Findings suggestive of the classic variant include a peripheral hypoechoic ring or large solid component. In comparison, cystic/necrotic change and hemorrhage is much more common in cellular CMN. (orig.)

  8. Congenital Diaphragmatic Hernia and Occupational Therapy: A Case Report

    Science.gov (United States)

    Bates, Angela C.

    2011-01-01

    This case report describes occupational therapy (OT) intervention in an outpatient setting and outcomes for a child diagnosed with congenital diaphragmatic hernia (CDH) from 4 to 28 months of age. There is little information on therapy intervention and outcomes of children who have survived. The patient is a white male, born at 35 weeks gestation…

  9. Congenital bicuspid stenosis with left ventricular hypoplasia in a kitten.

    Science.gov (United States)

    van Nie, C J; van Messel, M A; Straatman, T J

    1980-01-15

    Congenital bicuspid stenosis with left ventricular hypoplasia was diagnosed in a kitten. Clinical weakness, dyspnoea and marked cardiomegaly (X rays) were related to postmortem findings. The cardiomegaly had resulted from an enlargement of the left auricular appendage. It is supposed the cardiomegaly developed after the closing of the foramen ovale.

  10. The association of congenital neuroblastoma and congenital heart disease

    International Nuclear Information System (INIS)

    Bellah, R.; D'Andrea, A.; Children's Hospital, Boston, MA; Darillis, E.; Fellows, K.E.

    1989-01-01

    Several authors have reported an association between neuroblastoma and congenital heart disease; others contend that, unlike specific wellknown associations between malignancy and congenital defects (Wilm's tumor and aniridia, leukemia and Down's syndrome), no real relationship exists. We present three cases of cyanotic congenital heart disease in which subclinical neuroblastoma was found. We speculate that abnormal neural crest cell migration and development may be a common link between cardiac malformations and congenital neuroblastoma. (orig.)

  11. Congenital malaria in China.

    Directory of Open Access Journals (Sweden)

    Zhi-Yong Tao

    2014-03-01

    Full Text Available BACKGROUND: Congenital malaria, in which infants are directly infected with malaria parasites from their mother prior to or during birth, is a potentially life-threatening condition that occurs at relatively low rates in malaria-endemic regions. It is recognized as a serious problem in Plasmodium falciparum-endemic sub-Saharan Africa, where recent data suggests that it is more common than previously believed. In such regions where malaria transmission is high, neonates may be protected from disease caused by congenital malaria through the transfer of maternal antibodies against the parasite. However, in low P. vivax-endemic regions, immunity to vivax malaria is low; thus, there is the likelihood that congenital vivax malaria poses a more significant threat to newborn health. Malaria had previously been a major parasitic disease in China, and congenital malaria case reports in Chinese offer valuable information for understanding the risks posed by congenital malaria to neonatal health. As most of the literature documenting congenital malaria cases in China are written in Chinese and therefore are not easily accessible to the global malaria research community, we have undertaken an extensive review of the Chinese literature on this subject. METHODS/PRINCIPAL FINDINGS: Here, we reviewed congenital malaria cases from three major searchable Chinese journal databases, concentrating on data from 1915 through 2011. Following extensive screening, a total of 104 cases of congenital malaria were identified. These cases were distributed mainly in the eastern, central, and southern regions of China, as well as in the low-lying region of southwest China. The dominant species was P. vivax (92.50%, reflecting the malaria parasite species distribution in China. The leading clinical presentation was fever, and other clinical presentations were anaemia, jaundice, paleness, diarrhoea, vomiting, and general weakness. With the exception of two cases, all patients

  12. Asthma and cystic fibrosis: a tangled web.

    Science.gov (United States)

    Kent, Brian D; Lane, Stephen J; van Beek, Edwin J; Dodd, Jonathan D; Costello, Richard W; Tiddens, Harm A W M

    2014-03-01

    Successfully diagnosing concomitant asthma in people with cystic fibrosis (CF) is a challenging proposition, and the utility of conventional diagnostic criteria of asthma in CF populations remains uncertain. Nonetheless, the accurate identification of individuals with CF and asthma allows appropriate tailoring of therapy, and should reduce the unnecessary use of asthma medication in broader CF cohorts. In this review, we discuss the diagnostic challenge posed by asthma in CF, both in terms of clinical evaluation, and of interpretation of pulmonary function testing and non-invasive markers of airway inflammation. We also examine how the role of cross-sectional thoracic imaging in CF and asthma can assist in the diagnosis of asthma in these patients. Finally, we critically appraise the evidence base behind the use of asthma medications in CF populations, with a particular focus on the use of inhaled corticosteroids and bronchodilators. As shall be discussed, the gaps in the current literature make further high-quality research in this field imperative. © 2014 Wiley Periodicals, Inc.

  13. Viruses in cystic fibrosis patients' airways.

    Science.gov (United States)

    Billard, Lisa; Le Berre, Rozenn; Pilorgé, Léa; Payan, Christopher; Héry-Arnaud, Geneviève; Vallet, Sophie

    2017-11-01

    Although bacteria have historically been considered to play a major role in cystic fibrosis (CF) airway damage, a strong impact of respiratory viral infections (RVI) is also now recognized. Emerging evidence confirms that respiratory viruses are associated with deterioration of pulmonary function and exacerbation and facilitation of bacterial colonization in CF patients. The aim of this review is to provide an overview of the current knowledge on respiratory viruses in CF airways, to discuss the resulting inflammation and RVI response, to determine how to detect the viruses, and to assess their clinical consequences, prevalence, and interactions with bacteria. The most predominant are Rhinoviruses (RVs), significantly associated with CF exacerbation. Molecular techniques, and especially multiplex PCR, help to diagnose viral infections, and the coming rise of metagenomics will extend knowledge of viral populations in the complex ecosystem of CF airways. Prophylaxis and vaccination are currently available only for Respiratory syncytial and Influenza virus (IV), but antiviral molecules are being tested to improve CF patients' care. All the points raised in this review highlight the importance of taking account of RVIs and their potential impact on the CF airway ecosystem.

  14. Asthma and cystic fibrosis: A tangled web.

    LENUS (Irish Health Repository)

    Kent, Brian D

    2014-03-01

    Successfully diagnosing concomitant asthma in people with cystic fibrosis (CF) is a challenging proposition, and the utility of conventional diagnostic criteria of asthma in CF populations remains uncertain. Nonetheless, the accurate identification of individuals with CF and asthma allows appropriate tailoring of therapy, and should reduce the unnecessary use of asthma medication in broader CF cohorts. In this review, we discuss the diagnostic challenge posed by asthma in CF, both in terms of clinical evaluation, and of interpretation of pulmonary function testing and non-invasive markers of airway inflammation. We also examine how the role of cross-sectional thoracic imaging in CF and asthma can assist in the diagnosis of asthma in these patients. Finally, we critically appraise the evidence base behind the use of asthma medications in CF populations, with a particular focus on the use of inhaled corticosteroids and bronchodilators. As shall be discussed, the gaps in the current literature make further high-quality research in this field imperative. Pediatr Pulmonol. 2014; 49:205-213. © 2014 Wiley Periodicals, Inc.

  15. The lower airway microbiota in early cystic fibrosis lung disease: a longitudinal analysis.

    Science.gov (United States)

    Frayman, Katherine B; Armstrong, David S; Carzino, Rosemary; Ferkol, Thomas W; Grimwood, Keith; Storch, Gregory A; Teo, Shu Mei; Wylie, Kristine M; Ranganathan, Sarath C

    2017-12-01

    In infants and young children with cystic fibrosis, lower airway infection and inflammation are associated with adverse respiratory outcomes. However, the role of lower airway microbiota in the pathogenesis of early cystic fibrosis lung disease remains uncertain. To assess the development of the lower airway microbiota over time in infants and young children with cystic fibrosis, and to explore its association with airway inflammation and pulmonary function at age 6 years. Serial, semi-annual bronchoscopies and bronchoalveolar lavage (BAL) procedures were performed in infants newly diagnosed with cystic fibrosis following newborn screening. Quantitative microbiological cultures and inflammatory marker (interleukin 8 and neutrophil elastase) measurements were undertaken contemporaneously. 16S ribosomal RNA gene sequencing was conducted on stored BAL samples. Spirometry results recorded at 6 years of age were extracted from medical records. Ninety-five BAL samples provided 16S ribosomal RNA gene data. These were collected from 48 subjects aged 1.2-78.3 months, including longitudinal samples from 27 subjects and 13 before age 6 months. The lower airway microbiota varied, but diversity decreased with advancing age. Detection of recognised cystic fibrosis bacterial pathogens was associated with reduced microbial diversity and greater lower airway inflammation. There was no association between the lower airway microbiota and pulmonary function at age 6 years. In infants with cystic fibrosis, the lower airway microbiota is dynamic. Dominance of the microbiota by recognised cystic fibrosis bacterial pathogens is associated with increased lower airway inflammation, however early microbial diversity is not associated with pulmonary function at 6 years of age. 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/.

  16. Prevalence of congenital amusia.

    Science.gov (United States)

    Peretz, Isabelle; Vuvan, Dominique T

    2017-05-01

    Congenital amusia (commonly known as tone deafness) is a lifelong musical disorder that affects 4% of the population according to a single estimate based on a single test from 1980. Here we present the first large-based measure of prevalence with a sample of 20 000 participants, which does not rely on self-referral. On the basis of three objective tests and a questionnaire, we show that (a) the prevalence of congenital amusia is only 1.5%, with slightly more females than males, unlike other developmental disorders where males often predominate; (b) self-disclosure is a reliable index of congenital amusia, which suggests that congenital amusia is hereditary, with 46% first-degree relatives similarly affected; (c) the deficit is not attenuated by musical training and (d) it emerges in relative isolation from other cognitive disorder, except for spatial orientation problems. Hence, we suggest that congenital amusia is likely to result from genetic variations that affect musical abilities specifically.

  17. Primary cystic pancreatic neoplasms and tumor-like conditions. MR cholangiopancreatographic evaluation of lesions and Wirsung's duct

    International Nuclear Information System (INIS)

    Garcia, Adriana; Spina, Juan C. h; Rogondino, Jose; Chacon, Carolina; Gutierrez, Silvia

    2003-01-01

    Objective: To evaluate the contribution of single shot fast spin echo (SSFSE) in the diagnosis of cystic lesions in the pancreas, and their relation to Wirsung's duct. Material and methods: In 66 patients (33 women and 33 men; mean age: 66 years) cystic pancreatic lesions were retrospectively analyzed. The SSFSE technique was used, including an evaluation of Wirsung's duct. Conventional pancreatic sequences were added. The following lesion features were assessed: location, number, size, relation to Wirsung's duct, nature of the cystic image and signal intensity of the neoplasm or tumor-like condition. Surgical and anatomopathological correlation was obtained in 31/66 cases (47%). Results: The cystic lesions were divided in 2 groups: A) cystic lesions related to Wirsung's duct, 30 patients: all lesions measured less than 30 mm in size. Seven patients underwent surgical treatment; in 22 cases surgery was not indicated. One patient refused surgery. A mucinous papilliferous intraductal tumor was diagnosed in 3 cases, ampullar carcinoma in 1 case, pancreatic carcinoma, 1 case, autoimmune pancreatitis, 1 case, and cystic duct dilatation due to benign fibrous stenosis, 1 case. B) Cystic lesions not related to Wirsung's duct (36 patients): 7 serous cystadenomas, 7 adenocarcinomas with a cystic component, 1 mucinous cystadenoma, 1 duodenal diverticulum, 7 pseudocysts and 1 neuroendocrine tumor. In 12 patients surgery was not carried out due to clinical contraindication or patient's refusal. Conclusion: SSFSE allowed a clear differentiation between cystic lesions related (Group A) and non-related (Group B) to Wirsung's duct. The diagnosis could not be achieved by usual MRI sequences. However, benign and malignant lesions were observed in both groups. In all cases SSFSE afforded useful data either for surgical treatment or clinical follow-up. (author)

  18. MRI findings of intracranial cystic meningiomas

    International Nuclear Information System (INIS)

    Zhang, D.; Hu, L.-B.; Zhen, J.W.; Zou, L.-G.; Feng, X.-Y.; Wang, W.-X.; Wen, L.

    2009-01-01

    Aim: To report the magnetic resonance imaging (MRI) features of intracranial cystic meningiomas and compare these features in intra- and peritumoural cyst groups. Materials and methods: Fourteen cases of peritumoural cystic meningiomas were compared with 18 cases of intratumoural cystic meningiomas. All patients were examined using non-enhanced and contrast-enhanced MRI. Tumour location, tumour size, signal intensity, enhancement characteristics, and cystic changes were assessed. The MRI features were compared between the intra- and peritumoural cyst groups. Results: Most cystic meningiomas comprised two or more cysts. The solid parts of the tumours showed moderate or marked enhancement after the injection of contrast material. An enhanced cyst wall was found in six out of 14 cases in the peritumoural cyst group, but not in the intratumoural cyst group. Peritumoural cystic meningiomas were predominately located in the cerebral falx, whereas the intratumoural cystic meningiomas were predominantly found in frontal convexity (X 2 = 7.434, p = 0.024). The cysts were larger in the peritumoural cyst group than in the intratumoural cyst group (t = 5.274, p = 0.0258). Peritumoural oedema was more commonly found in the intratumoural cyst group (X 2 = 6.863, p = 0.008). Cystic meningiomas with solid parts located inside the cyst are reported for the first time. Conclusion: Cystic meningiomas, although uncommon, should be differentiated from other cystic intracranial lesions. Peri- and intratumoural cystic meningiomas have distinct MRI features. The present study provides the first report of two lesions with solid parts located inside the cyst, as well as one lesion with a calcified solid nodule and haemorrhage within the cyst.

  19. Nitrofurantoin and congenital abnormalities

    DEFF Research Database (Denmark)

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

    2001-01-01

    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......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...... 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....

  20. Congenital syphilis: literature review

    Directory of Open Access Journals (Sweden)

    Eduardo Chaida Sonda

    2013-01-01

    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.

  1. 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.

  2. Prevalence of congenital anomalies in newborns with congenital heart disease diagnosis

    International Nuclear Information System (INIS)

    Egbe, Alexander; Lee, Simon; Ho, Deborah; Uppu, Santosh; Srivastava, Shubhika

    2014-01-01

    There is a known association between congenital heart disease (CHD) and other congenital anomalies (CA). These associations have been altered by changes in prenatal factors in recent time. We reviewed the largest database of inpatient hospitalization information and analyzed the current association between common CHD diagnoses and other congenital anomalies. Case-control study design. We reviewed the Nationwide Inpatient Sample (NIS) database from 1998 to 2008 and identified all live births with CHD diagnosis (case) and live births without CHD diagnosis (control). We compared prevalence of associated congenital anomalies between the case and control groups. Our cohort consisted of 97,154 and 12,078,482 subjects in the case and control groups, respectively. In the CHD population, prevalence of non-syndromic congenital anomaly (NSCA), genetic syndrome (GS), and overall extra-cardiac congenital anomaly (CA) were 11.4, 2.2, and 13.6%, respectively. In the control group, prevalence of NSCA, GS, and CA were 6.7, 0.3, and 7.0%, respectively. NSCA (odds ratio (OR): 1.88, confidence interval (CI): 1.73-1.94), GS (OR 2.52, CI 2.44-2.61), and overall CA (OR: 2.01, CI: 1.97-2.14) were strongly associated with CHD. Prevalence of GS and multiple organ-system CA decreased significantly over the study period. This is the largest and most comprehensive population-based study evaluating association between CHD and extra-cardiac malformation (ECM) in newborns. There was significant decrease in prevalence of GS and multiple CA over the study period

  3. US Cystic Fibrosis Foundation and European Cystic Fibrosis Society consensus recommendations for the management of non-tuberculous mycobacteria in individuals with cystic fibrosis.

    Science.gov (United States)

    Floto, R Andres; Olivier, Kenneth N; Saiman, Lisa; Daley, Charles L; Herrmann, Jean-Louis; Nick, Jerry A; Noone, Peadar G; Bilton, Diana; Corris, Paul; Gibson, Ronald L; Hempstead, Sarah E; Koetz, Karsten; Sabadosa, Kathryn A; Sermet-Gaudelus, Isabelle; Smyth, Alan R; van Ingen, Jakko; Wallace, Richard J; Winthrop, Kevin L; Marshall, Bruce C; Haworth, Charles S

    2016-01-01

    Non-tuberculous mycobacteria (NTM) are ubiquitous environmental organisms that can cause chronic pulmonary infection, particularly in individuals with pre-existing inflammatory lung disease such as cystic fibrosis (CF). Pulmonary disease caused by NTM has emerged as a major threat to the health of individuals with CF but remains difficult to diagnose and problematic to treat. In response to this challenge, the US Cystic Fibrosis Foundation (CFF) and the European Cystic Fibrosis Society (ECFS) convened an expert panel of specialists to develop consensus recommendations for the screening, investigation, diagnosis and management of NTM pulmonary disease in individuals with CF. Nineteen experts were invited to participate in the recommendation development process. Population, Intervention, Comparison, Outcome (PICO) methodology and systematic literature reviews were employed to inform draft recommendations. An anonymous voting process was used by the committee to reach consensus. All committee members were asked to rate each statement on a scale of: 0, completely disagree, to 9, completely agree; with 80% or more of scores between 7 and 9 being considered 'good' agreement. Additionally, the committee solicited feedback from the CF communities in the USA and Europe and considered the feedback in the development of the final recommendation statements. Three rounds of voting were conducted to achieve 80% consensus for each recommendation statement. Through this process, we have generated a series of pragmatic, evidence-based recommendations for the screening, investigation, diagnosis and treatment of NTM infection in individuals with CF as an initial step in optimising management for this challenging condition. 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/

  4. Outcome in cystic fibrosis liver disease.

    LENUS (Irish Health Repository)

    Rowland, Marion

    2011-01-01

    Evidence suggests that cystic fibrosis liver disease (CFLD) does not affect mortality or morbidity in patients with cystic fibrosis (CF). The importance of gender and age in outcome in CF makes selection of an appropriate comparison group central to the interpretation of any differences in mortality and morbidity in patients with CFLD.

  5. Induction of ovarian cystic follicles in sheep.

    Science.gov (United States)

    Christman, S A; Bailey, M T; Head, W A; Wheaton, J E

    2000-10-01

    Cystic follicles are a significant cause of infertility in women, dairy cattle and sheep. Sheep were used as a model to identify factors that may elicit formation of cystic follicles. Insulin resistance and elevated LH activity were tested in overweight ewes because of associations among these factors and the formation of cystic follicles. Sheep were synchronized using a progesterone-releasing pessary and insulin resistance was induced during the synchronization period through administration of bovine somatotropin. Following removal of pessaries follicular growth was stimulated by treatment with eCG or eCG and hCG (PG-600). Follicular growth was monitored via daily transrectal ultrasonography and blood samples were collected for hormonal analyses. Six of 18 ewes had a subnormal or absent preovulatory gonadotropin surge and developed cystic follicles. Neither insulin resistance nor elevated LH activity were associated with formation of cystic follicles. Ewes that developed cystic follicles were heavier (93 +/- 4 kg) than ewes that ovulated (81 +/- 3 kg; P = 0.02). Furthermore, following pessary removal and initiation of daily ultrasonography, ewes that developed cystic follicles lost body weight (-3 +/- 1%), while ovulatory ewes continued to gain body weight (1 +/- 1%; P = 0.005). It is speculated that in heavy ewes metabolic factors associated with acute body weight loss inhibit the positive feedback of estradiol and thereby suppress the preovulatory gonadotropin surge leading to formation of cystic follicles.

  6. Cystic malformations of the neck in children

    Energy Technology Data Exchange (ETDEWEB)

    Koch, Bernadette L. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States)

    2005-05-01

    The most common cystic malformations of the neck are the result of abnormal embryogenesis involving the thyroglossal duct (TGD), lymphatic primordia and the branchial apparatus. When the basic embryology of these structures is considered, a reasonable differential diagnosis - and in some cases a definitive diagnosis - can be achieved based on the location and the imaging characteristics of the cystic mass. (orig.)

  7. Cystic malformations of the neck in children

    International Nuclear Information System (INIS)

    Koch, Bernadette L.

    2005-01-01

    The most common cystic malformations of the neck are the result of abnormal embryogenesis involving the thyroglossal duct (TGD), lymphatic primordia and the branchial apparatus. When the basic embryology of these structures is considered, a reasonable differential diagnosis - and in some cases a definitive diagnosis - can be achieved based on the location and the imaging characteristics of the cystic mass. (orig.)

  8. Laparoscopic cholecystectomy in adult cystic fibrosis.

    LENUS (Irish Health Repository)

    McGrath, D S

    2012-02-03

    Two female patients with Cystic Fibrosis, attending the Adult Regional Cystic Fibrosis centre at the Cork University Hospital, were investigated for upper abdominal pain and found to have gallstones at ultrasonography. Laparoscopic cholecystectomy was performed successfully and, without complication, in both patients.

  9. Neurofibromas as bilateral cystic chest wall swellings.

    African Journals Online (AJOL)

    secondary to an infection, usually parasitic infections. [6,7]. However, cystic tumours of the chest wall result- ing from degenerative changes in peripheral nerves of its layers are rare, and we did not see any in the pub- lished literature. We are reporting a single case of bilat- eral cystic degenerative changes in neurofibromas ...

  10. Unusual growth rate during cystic echinococcosis.

    Science.gov (United States)

    Valour, Florent; Khenifer, Safia; Della-Schiava, Nellie; Cotte, Eddy; Guibert, Benoit; Wallon, Martine; Durupt, Stéphane; Durieu, Isabelle

    2014-04-01

    Cystic echinococcosis is a world wild zoonosis caused by Echinococcus granulosus, leading to hepatic and lung cysts with a usually slight growth rate. We report the case of an 82year-old Algerian woman with hepatic and lung cystic echinococcosis with a 10-fold size increase in 6months. Copyright © 2013. Published by Elsevier Ireland Ltd.

  11. Self-management education for cystic fibrosis.

    LENUS (Irish Health Repository)

    Savage, Eileen

    2011-01-01

    Self-management education may help patients with cystic fibrosis and their families to choose, monitor and adjust treatment requirements for their illness, and also to manage the effects of illness on their lives. Although self-management education interventions have been developed for cystic fibrosis, no previous systematic review of the evidence of effectiveness of these interventions has been conducted.

  12. Congenital maxillary double lip

    Directory of Open Access Journals (Sweden)

    Dinesh Singh Chauhan

    2012-01-01

    Full Text Available Double lip, also referred to as "macrocheilia," is a rare anomaly which affects the upper lip more commonly than the lower lip. It consists of a fold of excess or redundant hypertrophic tissue on the mucosal side of the lip. The congenital double lip is believed to be present at birth and becomes more prominent after eruption of teeth. It affects esthetics and also interferes with speech and mastication. Simple surgical excision produces good functional and cosmetic results. We report a case of a non-syndromic congenital maxillary double lip in a 21-year-old male patient.

  13. Congenital hearing impairment

    Energy Technology Data Exchange (ETDEWEB)

    Robson, Caroline D. [Children' s Hospital and Harvard Medical School, Division of Neuroradiology, Department of Radiology, Boston, MA (United States)

    2006-04-15

    Establishing the etiology of congenital hearing impairment can significantly improve treatment for certain causes of hearing loss and facilitates genetic counseling. High-resolution CT and MRI have contributed to the evaluation and management of hearing impairment. In addition, with the identification of innumerable genetic loci and genetic defects involved in hearing loss, genetic testing has emerged as an invaluable tool in the assessment of hearing impairment. Some of the common forms of congenital hearing loss are reviewed and their imaging features illustrated. (orig.)

  14. Congenital hearing impairment

    International Nuclear Information System (INIS)

    Robson, Caroline D.

    2006-01-01

    Establishing the etiology of congenital hearing impairment can significantly improve treatment for certain causes of hearing loss and facilitates genetic counseling. High-resolution CT and MRI have contributed to the evaluation and management of hearing impairment. In addition, with the identification of innumerable genetic loci and genetic defects involved in hearing loss, genetic testing has emerged as an invaluable tool in the assessment of hearing impairment. Some of the common forms of congenital hearing loss are reviewed and their imaging features illustrated. (orig.)

  15. 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.

  16. Congenital Heart Defects and CCHD

    Science.gov (United States)

    ... and more. Stony Point, NY 10980 Close X Home > Complications & Loss > Birth defects & other health conditions > Congenital heart defects and ... in congenital heart defects. You have a family history of congenital heart ... syndrome or VCF. After birth Your baby may be tested for CCHD as ...

  17. Solid and cystic pseudopapillary tumor of the pancreas: A case report

    Directory of Open Access Journals (Sweden)

    Milošević Bojan Z.

    2013-01-01

    Full Text Available Introduction. Solid and cystic pseudopapillary tumor of the pancreas is a rare tumor of the pancreas, for the first time described by Frantz et al. in 1959. The majority of patients are young females and most of them are asymptomatic. Case Outline. We report a case of 25-year old woman who was admitted to our institution with abdominal pain and a palpable mass in the left hypochondrial area. US and CT scan revealed a solid and cystic pseudopapillary tumor in the head of the pancreas. The patient was treated by Whipple procedure, modification Longmire-Traverso. There was no metastatic disease either in the liver or peritoneum. Histologically the tumor was diagnosed as a solid and cystic pseudopapillary tumor of the pancreas. Conclusion. The unclear pre-operative diagnoses, together with incidence of potential malignancy as well as good outcome with resection, suggest that all suspected cystic tumors of the pancreas should be resected. The exact diagnosis is based on histological findings. [Projekat Ministarstva nauke Republike Srbije, br. III41007 i br. III41010

  18. [Italian Cystic Fibrosis Registry. Report 2011-2014].

    Science.gov (United States)

    Giordani, Barbara; Amato, Annalisa; Majo, Fabio; Ferrari, Gianluca; Quattrucci, Serena; Minicucci, Laura; Padoan, Rita; Floridia, Giovanna; Puppo Fornaro, Gianna; Taruscio, Domenica; Salvatore, Marco

    2018-01-01

    centre refer only to 2014. The present Report has been organized into 10 sections. 1. Demography - number of Italian patients with cystic fibrosis (CF) in 2014 was 4,981 and their median age was 20.4 years; estimated 2014 CF prevalence was 8.2/100,000 residents in Italy; on average, 52.1% of the patients were male and CF distribution showed higher frequency in patients aged from 7 to 35 years. On average, 53.7% of CF patients are aged more than 18 years. 2. Diagnoses - most of the CF patients were diagnosed before two years of age (around 66%); a significant proportion of patients (on average, 12%) was diagnosed in adult age. 3. New diagnoses - new diagnoses were 187 in 2011, 200 in 2012, 160 in 2013, and 135 in 2014. Estimated incidence was 1/4,052 live births in 2011; 1/4,313 in 2012; 1/5,189 in 2013 and 1/8,243 in 2014. 4. Genetics - 99.5% of patients was studied at the molecular level, with identification of 90.1% of Cystic Fibrosis Transmembrane Regulator CFTR mutations; [delta]508F was the most frequent mutation (44.8% in 2014). 5. Lung function - FEV₁ (Forced Expiratory Volume in the first second) scores progressively decreased shortly before the start of adult age, in accordance with the natural history of the disease. Most of the patients between 6 and 17 years of age reported a FEV₁ % ≥ 70% of the predicted value, while the proportion of patients with severe lung disease (FEV₁ % <40% of the predicted value) is <2% over the period 2011-2014. 6. Nutrition - most critical periods come out during the first 6 months of life and during adolescence. Prevalence of malnourished male aged 12-17 years decreases over the period 2011-2014; an increasing percentage of patient (both male and female) with a suboptimal body mass index value is observed among patients aged more than 18 years 7. Complications - the presence of missing data represents an obstacle in the correct evaluation of prevalence value of complications related to Italian patients within ICFR

  19. Muscular cystic hydatidosis: case report

    Directory of Open Access Journals (Sweden)

    Naspetti Riccardo

    2007-03-01

    Full Text Available Abstract Background Hydatidosis is a zoonosis caused by Echinococcus granulosus, and ingesting eggs released through the faeces from infected dogs infects humans. The location of the hydatid cysts is mostly hepatic and/or pulmonary, whereas musculoskeletal hydatidosis is very rare. Case presentation We report an unusual case of primary muscular hydatidosis in proximity of the big adductor in a young Sicilian man. The patient, 34 years old, was admitted to the Department of Infectious and Tropical Diseases for ultrasonographic detection, with successive confirmation by magnetic resonance imaging, of an ovular mass (13 × 8 cm in the big adductor of the left thigh, cyst-like, and containing several small cystic formations. Serological tests for hydatidosis gave negative results. A second drawing of blood was done 10 days after the first one and showed an increase in the antibody titer for hydatidosis. The patient was submitted to surgical excision of the lesion with perioperatory prophylaxis with albendazole. The histopathological examination of the bioptic material was not diriment in the diagnosis, therefore further tests were performed: additional serological tests for hydatidosis for the evaluation of IgE and IgG serotype (Western Blot and REAST, and molecular analysis of the excised material. These more specific serological tests gave positive results for hydatidosis, and the sequencing of the polymerase chain reaction products from the cyst evidenced E. granulosus DNA, genotype G1. Any post-surgery complications was observed during 6 following months. Conclusion Cystic hydatidosis should always be considered in the differential diagnosis of any cystic mass, regardless of its location, also in epidemiological contests less suggestive of the disease. The diagnosis should be achieved by taking into consideration the clinical aspects, the epidemiology of the disease, the imaging and immunological tests but, as demonstrated in this case, without

  20. Internal irradiation for cystic craniopharyngioma

    International Nuclear Information System (INIS)

    Kobayashi, Tatsuya; Kageyama, Naoki

    1979-01-01

    Internal irradiation with P-32 chromic phosphate and Au-198 colloid was used to treat cystic craniopharyngioma. A newly developed dosimetric formula, by which the radiation dose can be calculated simultaneously at the cyst wall and at a point far from the radioactive source and the untoward effect of irradiation on surrounding brain tissue can be eliminated, especially in cases in which the wall is thin and can be penetrated by beta emission, was used. Radioactive phosphate or gold was injected into eight craniopharyngioma cysts throught the Ommaya reservoir and a tube inserted at the first craniotomy. All cysts were effectively treated for 3 to 33 months, to eliminate fluid retention or collapse. A collapsed cyst was removed at the second craniotomy and irradiation was histologically shown to be effective. Oculomotor palsy, a side effect of irradiation, occurred 10 days after the injection of 5 mc of P-32 chromic phosphate only in a case of small cysts (5.0 ml) in the supra- and intracellular regions. The thickness of the cyst wall was less than 0.5 mm and the oculomotor nerves were thought to adhere to the wall. Not only the amount of wall dose but also the thickness of the wall and localization of the cyst are important factors in internal irradiation. Sufficient and safer doses which kill tumor cells in the wall and have no side effects, are 9,000 to 30,000 rad. Internal irradiation can be used to treat large cysts of more than 10 ml which are supposedly difficult to remove radically and or multiple cysts. It is effective not only for cystic craniopharyngioma but also for intracrania cystic tumors other than craniopharyngioma, if dosimetry is accurate. (J.P.N.)

  1. Pulmonary complications of cystic fibrosis

    International Nuclear Information System (INIS)

    Ng, M.Y.; Flight, W.; Smith, E.

    2014-01-01

    The life expectancy of patients with cystic fibrosis (CF) has steadily increased over recent decades with a corresponding increase in the frequency of complications of the disease. Radiologists are increasingly involved with managing and identifying the pulmonary complications of CF. This article reviews the common manifestations of CF lung disease as well as updating radiologists with a number of less well-known complications of the condition. Early and accurate detection of the pulmonary effects of CF are increasingly important to prevent irreversible lung damage and give patients the greatest possibility of benefiting from the new therapies becoming available, which correct the underlying defect causing CF

  2. Liver manifestations of cystic fibrosis

    International Nuclear Information System (INIS)

    Akata, Deniz; Akhan, Okan

    2007-01-01

    Chronic liver disease is one of the major complications of cystic fibrosis (CF). Significant liver disease is seen in 13-25% of children with CF. Improved life expectancy and prolonged follow-up have favored better characterization of the hepatic manifestations of CF and allowed direct observation of an increasing number of liver-related events. Liver disease typically develops in the first decade of life, with the incidence dropping rapidly after the age of 10 years. The wide spectrum of liver disease ranging from asymptomatic gallbladder abnormalities to biliary cirrhosis will be reviewed in this article

  3. Endocrine Disorders in Cystic Fibrosis.

    Science.gov (United States)

    Blackman, Scott M; Tangpricha, Vin

    2016-08-01

    Cystic fibrosis is frequently complicated by endocrine disorders. Diabetes can be expected to affect most with CF and pancreatic insufficiency and varies widely in age of onset, but early identification and treatment improve morbidity and mortality. Short stature can be exacerbated by relative delay of puberty and by use of inhaled corticosteroids. Bone disease in CF causes fragility fractures and should be assessed by monitoring bone mineral density and optimizing vitamin D status. Detecting and managing endocrine complications in CF can reduce morbidity and mortality in CF. These complications can be expected to become more common as the CF population ages. Copyright © 2016 Elsevier Inc. All rights reserved.

  4. Congenital bronchobiliary fistula diagnosis by cholescintigraphy

    International Nuclear Information System (INIS)

    Aguilar, C.; Cano, R.; Camasca, A.; Del Pino, T.; Gonzales, J.; Rivera, J.; Untiveros, A.

    2005-01-01

    A case of a six-year-old female patient diagnosed with congenital bronchobiliary fistula is presented. Only 20 cases have been reported in the literature of this disease in this institution. The patient showed sings and symptoms of a respiratory illness from birth that complicated progressively. She was submitted to multiple imaging like chest x-rays, CT, ultrasound and Tc-99m HIDA cholescintigraphy. This procedure confirmed the presence of a bronchobiliary fistula that was corrected by surgery, with subsequent improvement of clinical symptoms. (authors)

  5. Virtual Surgery in Congenital Heart Disease

    DEFF Research Database (Denmark)

    Sørensen, Thomas Sangild; Mosegaard, Jesper; Kislinskiy, Stefan

    2014-01-01

    et al., Cardiol Young 13:451–460, 2003). In combination with the availability of virtual models of congenital heart disease (CHD), techniques for computer- based simulation of cardiac interventions have enabled early clinical exploration of the emerging concept of virtual surgery (Sorensen et al...... Teaching, diagnosing, and planning of therapy in patients with complex structural cardiovascular heart disease require profound understanding of the three-dimensional (3D) nature of cardiovascular structures in these patients. To obtain such understanding, modern imaging modalities provide high...

  6. Congenital portosystemic shunts with and without gastrointestinal bleeding - case series

    Energy Technology Data Exchange (ETDEWEB)

    Gong, Ying; Chen, Jun; Chen, Qi; Ji, Min; Pa, Mier; Qiao, Zhongwei [Children' s Hospital of Fudan University, Department of Radiology, Shanghai (China); Zhu, Hui [Fudan University Shanghai Cancer Center, Department of Radiology, Shanghai (China); Zheng, Shan [Children' s Hospital of Fudan University, Department of Surgery, Shanghai (China)

    2015-12-15

    The clinical presentation of congenital portosystemic shunt is variable and gastrointestinal bleeding is an uncommon presentation. To describe the imaging features of congenital portosystemic shunt as it presented in 11 children with (n = 6) and without gastrointestinal bleeding (n = 5). We performed a retrospective study on a clinical and imaging dataset of 11 children diagnosed with congenital portosystemic shunt. A total of 11 children with congenital portosystemic shunt were included in this study, 7 with extrahepatic portosystemic shunts and 4 with intrahepatic portosystemic shunts. Six patients with gastrointestinal bleeding had an extrahepatic portosystemic shunt, and the imaging results showed that the shunts originated from the splenomesenteric junction (n = 5) or splenic vein (n = 1) and connected to the internal iliac vein. Among the five cases of congenital portosystemic shunt without gastrointestinal bleeding, one case was an extrahepatic portosystemic shunt and the other four were intrahepatic portosystemic shunts. Most congenital portosystemic shunt patients with gastrointestinal bleeding had a shunt that drained portal blood into the iliac vein via an inferior mesenteric vein. This type of shunt was uncommon, but the concomitant rate of gastrointestinal bleeding with this type of shunt was high. (orig.)

  7. Severe congenital neutropenia

    DEFF Research Database (Denmark)

    Borregaard, Niels

    2014-01-01

    In this issue of Blood, Tidwell et al1 demonstrate that mutations in the start codon (protein synthesis is initiated at the codon ATG) of neutrophil elastase (ELANE) result in the production of N-terminally truncated elastase, which mislocates to the nucleus and results in severe congenital neutr...... neutropenia (SCN)....

  8. 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...

  9. Congenital neck masses.

    Science.gov (United States)

    Rosa, Peter A; Hirsch, David L; Dierks, Eric J

    2008-08-01

    Congenital neck lesions reflect abnormal embryogenesis in head and neck development. A thorough knowledge of embryology and anatomy is critical in the diagnosis and treatment of these lesions. The appropriate diagnosis of these lesions is necessary to provide appropriate treatment and long-term follow up, because some of these lesions may undergo malignant transformation or be harbingers of malignant disease.

  10. Congenital extracranial meningioma

    International Nuclear Information System (INIS)

    Wong, H.F.; Ng, S.H.; Wai, Y.Y.; Wan, Y.L.; Kong, M.S.

    1995-01-01

    The authors report a case of congenital meningioma in a newborn. This tumour is extremely rare and only six cases have been reported in the literature. Those reported cases were mainly intracranial. This is the first case of a neonatal extracranial meningioma that was evaluated preoperatively by computed tomography and magnetic resonance imaging. (orig.)

  11. Pseudoamblyopia in Congenital Cyclotropia

    Directory of Open Access Journals (Sweden)

    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.”

  12. Identification of congenital deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    . The study evaluated the assessment procedure of 190 children and adults found to be congenitally deafblind. Among the 190 individuals 76 percent were determined using functional assessment in addition to medical examination. A case example involving a 12-year-old child is also presented to illustrate...

  13. Intracranial cystic lesions; Intrakranielle zystische Laesionen

    Energy Technology Data Exchange (ETDEWEB)

    Ahlhelm, F.; Goetschi, S. [Kantonsspital Baden AG, Abteilung fuer Neuroradiologie, Baden (Switzerland); Shariat, K. [Kantonsspital Winterthur, Klinik fuer Neurochirurgie, Winterthur (Switzerland); Ulmer, S. [Universitaetsklinikum Schleswig-Holstein, Klinik fuer Radiologie und Neuroradiologie, Kiel (Germany)

    2018-02-15

    Intracerebral cysts are common findings in imaging of the neurocranium and are not always clinically significant. The pathological spectrum of intracerebral cysts is, however, very broad and in addition to incidental findings includes developmental disorders, malformation tumors, primary and secondary neoplasms and infectious etiologies, such as cerebral abscess formation, cysticercosis or residuals after congenital cytomegalovirus infections. Intracerebral cystic defects may be caused by inflammatory central nervous system (CNS) diseases, such as multiple sclerosis as well as by mitochondriopathies, leukodystrophy, electrolyte disturbances or osmotic demyelination syndrome or brain infarctions, e.g. after lacunar infarctions or as encephalomalacic changes after severe traumatic brain injury. In addition to the radiological findings of cysts in magnetic resonance imaging (MRI) or in computed tomography (CT), the localization, patient age, patient medical history and laboratory diagnostics are helpful for the differential diagnostics. In addition to the morphological assessment, advanced MRI techniques, such as diffusion-weighted imaging for epidermoids or the use of MR spectroscopy, can provide valuable information for the differential diagnosis. Intracranial cysts can be subdivided into intraventricular and periventricular cysts, intra-axial cysts and cysts in the external fluid-filled spaces. Associated tumor nodules and the contrast medium behavior of the cyst walls and/or associated soft tissue components as well as the reaction of the adjacent parenchyma are helpful for the diagnosis and assessment. (orig.) [German] Bei der Bildgebung des Neurokraniums sind intrazerebrale Zysten haeufig und haben nicht immer einen Krankheitswert. Das Spektrum der intrazerebralen Zysten ist jedoch sehr gross und beinhaltet neben Inzidentalbefunden auch Entwicklungsstoerungen, Missbildungstumoren, primaere und sekundaere Neoplasien sowie infektiologische Ursachen, wie z. B

  14. Longevity of Patients With Cystic Fibrosis in 2000 to 2010 and Beyond: Survival Analysis of the Cystic Fibrosis Foundation Patient Registry

    Science.gov (United States)

    MacKenzie, Todd; Gifford, Alex H.; Sabadosa, Kathryn A.; Quinton, Hebe B.; Knapp, Emily A.; Goss, Christopher H.; Marshall, Bruce C.

    2015-01-01

    Background Advances in treatments for cystic fibrosis (CF) continue to extend survival. An updated estimate of survival is needed for better prognostication and to anticipate evolving adult care needs. Objective To characterize trends in CF survival between 2000 and 2010 and to project survival for children born and diagnosed with the disease in 2010. Design Registry-based study. Setting 110 Cystic Fibrosis Foundation–accredited care centers in the United States. Patients All patients represented in the Cystic Fibrosis Foundation Patient Registry (CFFPR) between 2000 and 2010. Measurements Survival was modeled with respect to age, age at diagnosis, gender, race or ethnicity, F508del mutation status, and symptoms at diagnosis. Results Between 2000 and 2010, the number of patients in the CFFPR increased from 21 000 to 26 000, median age increased from 14.3 to 16.7 years, and adjusted mortality decreased by 1.8% per year (95% CI, 0.5% to 2.7%). Males had a 19% (CI, 13% to 24%) lower adjusted risk for death than females. Median survival of children born and diagnosed with CF in 2010 is projected to be 37 years (CI, 35 to 39 years) for females and 40 years (CI, 39 to 42 years) for males if mortality remains at 2010 levels and more than 50 years if mortality continues to decrease at the rate observed between 2000 and 2010. Limitations The CFFPR does not include all patients with CF in the United States, and loss to follow-up and missing data were observed. Additional analyses to address these limitations suggest that the survival projections are conservative. Conclusion Children born and diagnosed with CF in the United States in 2010 are expected to live longer than those born earlier. This has important implications for prognostic discussions and suggests that the health care system should anticipate greater numbers of adults with CF. Primary Funding Source Cystic Fibrosis Foundation. PMID:25133359

  15. Vitamin D deficiency as a risk factor for cystic fibrosis-related diabetes in the Scandinavian Cystic Fibrosis Nutritional Study

    DEFF Research Database (Denmark)

    Pincikova, T; Nilsson, Kristine Kahr; Moen, I E

    2011-01-01

    Many cystic fibrosis patients are vitamin D-insufficient. Cystic fibrosis-related diabetes is a major complication of cystic fibrosis. The literature suggests that vitamin D might possess certain glucose-lowering properties. We aimed to assess the relationship between vitamin D and cystic fibrosis...

  16. Nasopharyngeal Carcinoma with Cystic Cervical Metastasis Masquerading as Branchial Cleft Cyst: A Potential Pitfall in Diagnosis and Management.

    Science.gov (United States)

    Sai-Guan, Lum; Min-Han, Kong; Kah-Wai, Ngan; Mohamad-Yunus, Mohd-Razif

    2017-03-01

    Most metastatic lymph nodes from head and neck malignancy are solid. Cystic nodes are found in 33% - 61% of carcinomas arise from Waldeyer's ring, of which only 1.8% - 8% originate are from the nasopharynx. Some cystic cervical metastases were initially presumed to be branchial cleft cyst. This case report aims to highlight the unusual presentation of cystic cervical metastasis secondary to nasopharyngeal carcinoma in a young adult. The histopathology, radiological features and management strategy were discussed. A 36-year-old man presented with a solitary cystic cervical swelling, initially diagnosed as branchial cleft cyst. Fine needle aspiration yielded 18 ml of straw-coloured fluid. During cytological examination no atypical cells were observed. Computed tomography of the neck showed a heterogeneous mass with multiseptation medial to the sternocleidomastoid muscle. Histopathological examination of the mass, post excision, revealed a metastatic lymph node. A suspicious mucosal lesion at the nasopharynx was detected after repeated thorough head and neck examinations and the biopsy result confirmed undifferentiated nasopharyngeal carcinoma. Cystic cervical metastasis may occur in young patients under 40 years. The primary tumour may not be obvious during initial presentation because it mimicks benign branchial cleft cyst clinically. Retrospective review of the computed tomography images revealed features that were not characteristic of simple branchial cleft cyst. The inadequacy of assessment and interpretation had lead to the error in diagnosis and subsequent management. Metastatic head and neck lesion must be considered in a young adult with a cystic neck mass.

  17. Cystic pancreatic neuroendocrine tumors (cPNETs: a systematic review and meta-analysis of case series

    Directory of Open Access Journals (Sweden)

    Luis Hurtado-Pardo

    Full Text Available Cystic pancreatic neuroendocrine tumors represent 13% of all neuroendocrine tumors. The aim of this study is to analyze the phenotype and biologic behavior of resected cystic neuroendocrine tumors. A systematic review and meta-analysis were conducted until September 2016 using a search in Medline, Scopus, and EMBASE with the terms "cystic pancreatic endocrine neoplasm", "cystic islets tumors" and "cystic islets neoplasms". From the 795 citations recovered 80 studies reporting on 431 patients were selected. 87.1% (n = 387 were sporadic tumors and 10.3% (n = 40 corresponded to multiple endocrine neoplasia type 1. Were diagnosed incidentally 44.6% (n = 135. Cytology was found to have a sensitivity of 78.5%. Were non-functional tumors 85% (n = 338, and among the functional tumors, insulinoma was the most frequent. According to the European Neuroendocrine Tumor Society staging, 87.8% were limited to the pancreas (I-IIb, and 12.2% were advanced (III-IV. Disease-free survival at 5 years in stages (I-IIIa and (IIIb-IV was 91.5% and 54.2%, respectively; and was significantly lower (p = 0.0001 in functional tumors. In patients with multiple endocrine neoplasia there was a higher incidence of functional (62.5% and multifocal (28.1% tumors. Disease-free survival at 5 and 10 years was 60%. Cystic pancreatic neuroendocrine tumors exhibit phenotypical characteristics which are different to those of solid neuroendocrine tumors.

  18. Internal irradiation for cystic craniopharyngioma

    International Nuclear Information System (INIS)

    Kobayashi, T.; Kageyama, N.; Ohara, K.

    1981-01-01

    The authors report the results of internal irradiation with labeled chromic phosphate (32P) and gold-198 (198Au) colloid in eight cases of cystic craniopharyngiomas. They used a newly developed dosimetric formula, by which the radiation dose at the cyst wall and at any point far from the radioactive source can be calculated. Ten courses of irradiation in eight patients were carried out by injection of either 32P or 198Au colloid into the cyst through an Ommaya drainage system that had been placed at craniotomy. Follow-up studies ranging from 13 to 156 months revealed that all cysts were effectively treated, with elimination of fluid or collapse of the cyst. This was confirmed by Conray cystography and/or computerized tomography. Not only the dose delivered to the wall but also the thickness of the cyst wall and the location of the cyst are important factors in planning internal irradiation. A safe and adequate dose to the cyst wall could range between 9000 to 30,000 rads for craniopharyngioma. This treatment is suitable for large cysts that are thought to be difficult to remove radically, recurrent cysts resistant to previous treatment, or multiple cysts. Internal irradiation may also be applicable in other cystic intracranial tumors if dosimetry is calculated accurately

  19. Cancer risk in siblings of children with congenital malformations

    DEFF Research Database (Denmark)

    Sun, Yuelian; Wu, Chunsen; Arah, Onyebuchi A

    2016-01-01

    PURPOSE: Cancer and birth defects cluster in families more often than expected by chance, but the reasons are neither well known nor well studied. METHODS: From singletons born alive in Denmark between 1 January 1977 and 31 December 2007, we identified children who had no congenital malformations...... but had a full or half sibling with a congenital malformation (CM) diagnosed in the first year of life; this constituted the exposed group, while children whose siblings had no such condition constituted a reference group. We estimated cancer risks for children who had a full sibling or a half sibling...

  20. Skeletal changes in congenital fibrinogen abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Lagier, R.; Bouvier, C.A.; van Strijthem, N.

    1980-01-01

    We report anatomico-radiologic study of humerus, femur, and tibia from a case of total congenital afibrinogenemia. Juxtatrabecular hemorrhages occur mainly in metaphyses and seem to be related to normal lines of stress. They may lead to the formation of intraosseous cysts and to a remodelling of bone trabeculae. The radiologic lesions in a second case, diagnosed as congenital dysfibrinogenemia, are similar to those found in Case 1 (femoral trabeculae remodelling) but also resemble some alterations described in hemophilia (pseudotumor of the right iliac bone). Anatomic study of the lesions in Case 2 was not possible. The significance of these observations could be better defined by a more extended skeletal study (radiologic and when feasible anatomic) of patients with congenital clotting defects and especially with inherited disorders of the fibrinogen molecule. It would also be worthwhile investigating manifest or latent hemostatic disorders (particularly at the fibrinogen level) in patients with solitary or aneurysmal bone cysts, and even with bone infarct or unexplained trabecular remodelling.

  1. Congenital duodenal diaphragm in eight children

    International Nuclear Information System (INIS)

    Nawaz, Akhtar; Matta, Hilal; Jacobsz, Alic; Al-Salem, Ahmad H.; Trad, Omar

    2004-01-01

    Congenital duodenal obstruction (CDO) is common and usually easy to diagnose cause of intestinal obstruction in the newborn, except when the cause of the obstruction is duodenal diaphragm. We describe our experience with eight children who had intrinsic duodenal obstruction secondary to a duodenal diaphragm. The medical record of 22 children with the diagnosis of congenital intrinsic duodenal were reviewed for age, sex, gestation, birth weight, clinical features, associated anomalies, method of diagnosis, treatment and outcome. Operative findings and procedures were obtained from the operative notes. Eight of 22 children (36.4%) had congenital duodenal diaphragm (CDD). In all children, the diagnosis was made from the plain abdominal X-ray, which showed the classic double-bubble appearence, and barium meal, which showed duodenal obstruction. Four patients had associated anomalies, including two with Down's syndrome intraoperatively, five patients were found to have duodenal diaphragm with a central hole, while the other three had complete duodenal diaphragms. Postoperatively, all patients did well. Six required total parenteral nutrition. The 100% survival rate among these children is comparable to that in Western countries, and can be attributed to the lack of major associated abnormalities, good perioperative management, and the availability of total parenteral nutrition. (author)

  2. Intralobar bronchopulmonary sequestration in the newborn - a congenital malformation

    International Nuclear Information System (INIS)

    Laurin, S.; Haegerstrand, I.

    1999-01-01

    Background. Intralobar sequestration (ILS) has been suggested to be an acquired lesion. However, we have observed several young infants who had ILS. Objectives. Since this fact seems to indicate a congenital origin, we reviewed our experience. Material and methods. A retrospective review of bronchopulmonary sequestration from the Departments of Radiology and Pathology in Lund between 1964 and 1997. Results. We identified seven infants or young children with a diagnosis of intralobar sequestration. In each patient, the ILS was present before recurrent infection developed. Five had chest X-rays as neonates, one at 3 months and one at 11 months of age. All but one showed an abnormality on their first chest X-ray, consistent with sequestration. Six of the ILS were verified at angiography; all seven were surgically removed. Two of the children with ILS also had congenital cystic adenomatoid malformation (CCAM). Three children had both ILS and scimitar syndrome. Conclusions. The fact that ILS was present in seven newborn and young infants indicates that this lesion is, at least in some patients, a congenital malformation. (orig.)

  3. Neuroimaging differential diagnoses to abusive head trauma

    International Nuclear Information System (INIS)

    Girard, Nadine; Brunel, Herve; Dory-Lautrec, Philippe; Chabrol, Brigitte

    2016-01-01

    Trauma is the most common cause of death in childhood, and abusive head trauma is the most common cause of traumatic death and morbidity in infants younger than 1 year. The main differential diagnosis of abusive head trauma is accidental traumatic brain injury, which is usually witnessed. This paper also discusses more uncommon diagnoses such as congenital and acquired disorders of hemostasis, cerebral arteriovenous malformations and metabolic diseases, all of which are extremely rare. Diagnostic imaging including CT and MRI is very important for the distinction of non-accidental from accidental traumatic injury. (orig.)

  4. Postnatal monitoring of prenatal diagnosed hydro nephrosis

    International Nuclear Information System (INIS)

    Bueva, A.; Stefanov, S.; Palashev, Y.

    2011-01-01

    Ultrasound has revolutionized pediatric nephrology in the last decades and has a major impact on management and treatment of several children's kidneys diseases. Hydronephrosis is the most common anomaly in childhood. Progress in fetal imaging in the last years has a important impact in diagnosing congenital hydronephrosis. The current study try to establish authors opinion on problem over coming in the every day practice in pediatric nephrologist - is surgery mandatory in high grade pediatric hydronephrosis. A discussion is undergoing in the literature, following communications that high grade hydronephrosis tend spontaneously to regress in more that 65% according to Koff (2000, 2008)

  5. Neuroimaging differential diagnoses to abusive head trauma

    Energy Technology Data Exchange (ETDEWEB)

    Girard, Nadine [AP-HM Timone 2, Department of Neuroradiology, Marseille cedex 05 (France); Aix Marseille University, UMR CNRS 7339, Marseille (France); Brunel, Herve; Dory-Lautrec, Philippe [AP-HM Timone 2, Department of Neuroradiology, Marseille cedex 05 (France); Chabrol, Brigitte [AP-HM Timone, Department of Pediatric Neurology, Marseille (France)

    2016-05-15

    Trauma is the most common cause of death in childhood, and abusive head trauma is the most common cause of traumatic death and morbidity in infants younger than 1 year. The main differential diagnosis of abusive head trauma is accidental traumatic brain injury, which is usually witnessed. This paper also discusses more uncommon diagnoses such as congenital and acquired disorders of hemostasis, cerebral arteriovenous malformations and metabolic diseases, all of which are extremely rare. Diagnostic imaging including CT and MRI is very important for the distinction of non-accidental from accidental traumatic injury. (orig.)

  6. Trisomy 9 Mosaicism Diagnosed In Utero

    Directory of Open Access Journals (Sweden)

    Hironori Takahashi

    2010-01-01

    Full Text Available We present three cases of trisomy 9 mosaicism diagnosed by amniocentesis with ongoing pregnancies after referral to our center due to fetal abnormalities. Two cases were associated with severe fetal growth restriction (FGR, each of which resulted in an intrauterine fetal demise (IUFD in the third trimester. The other case involved mild FGR with a congenital diaphragmatic hernia and resulted in a live birth with severe development delay. A major prenatal finding of trisomy 9 mosaicism is FGR. Fetuses with trisomy 9 mosaicism can rarely survive in the case of severe FGR.

  7. [Performance of prenatal diagnosis and postnatal development of congenital lung malformations].

    Science.gov (United States)

    Desseauve, D; Dugué-Marechaud, M; Maurin, S; Gatibelza, M-È; Vequeau-Goua, V; Mergy-Laurent, M; Levard, G; Pierre, F

    2015-04-01

    For many diseases, the comparison of prenatal diagnosis with a histopathological reality is not always possible. Fetal lung pathology, with its high rate of surgery in postnatal, allows this assessment. This study proposes an approach to the reliability of prenatal diagnosis and analysis of the postnatal development of all children in care for congenital pulmonary malformation (CPM). This is a retrospective study of all cases of CPM diagnosed in Poitiers University Hospital from 1995 to 2011. Cases diagnosed prenatally were identified and the diagnostic accuracy was studied by histology when cases had surgery. The postnatal development of prenatally diagnosed cases is described and compared to children who did not receive prenatal diagnosis. Among the 45 cases of CPM supported at the Poitiers University Hospital, 30 had received prenatal diagnosis of isolated CPM. The diagnostic concordance between antenatal ultrasound and the final diagnosis is κ=0.67 (CI95% [0.38 to 0.94]). The sensitivity of ultrasound was 90% (CI95% [55-99.7]) in our series for the diagnosis of CAMP (cystic adenomatoid malformation pulmonary). We found a sonographic disappearance of lesions in 4 children, 1 child in regression, stable lesions in 21 cases. Four children showed an increase in volume of the malformation, with signs of poor tolerance in 3 cases. After birth, children who received a prenatal diagnosis were no more symptomatic than those whose diagnosis was made postnatal: 21 (70%) versus 11 (73%; P=1) respectively. Similarly, they often received prophylactic surgery: 18 (60%) versus 2 (13%) respectively (P<0.01) and less often suffered post-surgery complication: 3 (10%) versus 10 (67%) respectively (P<0.01). The number of children monitored was not significantly different in the two groups. Prenatal diagnosis allows for the precise nature of the lesion in 90% of cases in 2013 and had no impact on symptomatology at birth. When prenatal diagnosis is possible, preventive

  8. Vitamin A supplementation for cystic fibrosis.

    Science.gov (United States)

    Bonifant, Catherine M; Shevill, Elizabeth; Chang, Anne B

    2014-05-14

    People with cystic fibrosis and pancreatic insufficiency are at risk of fat soluble vitamin deficiency as these vitamins (A, D, E and K) are co-absorbed with fat. Thus, some cystic fibrosis centres routinely administer these vitamins as supplements but the centres vary in their approach of addressing the possible development of deficiencies in these vitamins. Vitamin A deficiency causes predominantly eye and skin problems while supplementation of vitamin A to excessive levels may cause harm to the respiratory and skeletal systems in children. Thus a systematic review on vitamin A supplementation in people with cystic fibrosis would help guide clinical practice. To determine if vitamin A supplementation in children and adults with cystic fibrosis:1. reduces the frequency of vitamin A deficiency disorders;2. improves general and respiratory health;3. increases the frequency of vitamin A toxicity. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register which comprises of references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings.Date of the most recent search of the Group's Cystic Fibrosis Trials Register: 07 April 2014. All randomised or quasi-randomised controlled trials comparing all preparations of oral vitamin A used as a supplement compared to either no supplementation (or placebo) at any dose and for any duration, in children or adults with cystic fibrosis (defined by sweat tests or genetic testing) with and without pancreatic insufficiency. No relevant studies for inclusion were identified in the search. No studies were included in this review. As there were no randomised or quasi-randomised controlled trials identified, we cannot draw any conclusions on the benefits (or otherwise) of regular administration of vitamin A in people with cystic fibrosis. Until further data are available, country or region specific guidelines on the use of

  9. Voice Disorder in Cystic Fibrosis Patients

    Science.gov (United States)

    Lourenço, Bruna Mendes; Costa, Kauê Machado; da Silva Filho, Manoel

    2014-01-01

    Cystic fibrosis is a common autosomal recessive disorder with drastic respiratory symptoms, including shortness of breath and chronic cough. While most of cystic fibrosis treatment is dedicated to mitigating the effects of respiratory dysfunction, the potential effects of this disease on vocal parameters have not been systematically studied. We hypothesized that cystic fibrosis patients, given their characteristic respiratory disorders, would also present dysphonic symptoms. Given that voice disorders can severely impair quality of life, the identification of a potential cystic fibrosis-related dysphonia could be of great value for the clinical evaluation and treatment of this disease. We tested our hypothesis by measuring vocal parameters, using both objective physical measures and the GRBAS subjective evaluation method, in male and female cystic fibrosis patients undergoing conventional treatment and compared them to age and sex matched controls. We found that cystic fibrosis patients had a significantly lower vocal intensity and harmonic to noise ratio, as well as increased levels of jitter and shimmer. In addition, cystic fibrosis patients also showed higher scores of roughness, breathiness and asthenia, as well as a significantly altered general grade of dysphonia. When we segregated the results according to sex, we observed that, as a group, only female cystic fibrosis patients had significantly lower values of harmonic to noise ratio and an abnormal general grade of dysphonia in relation to matched controls, suggesting that cystic fibrosis exerts a more pronounced effect on vocal parameters of women in relation to men. Overall, the dysphonic characteristics of CF patients can be explained by dysfunctions in vocal fold movement and partial upper airway obstruction, potentially caused by the accumulation of mucus and chronic cough characteristic of CF symptomatology. Our results show that CF patients exhibit significant dysphonia and suggest they may

  10. Diagnosing Tic Disorders

    Science.gov (United States)

    ... Submit" /> Information For… Media Policy Makers Diagnosing Tic Disorders Language: English (US) Español (Spanish) Recommend on ... or postviral encephalitis). Persistent (Chronic) Motor or Vocal Tic Disorder To be diagnosed with a persistent tic ...

  11. The diagnostic analysis using the CT scan, of cystic lesions in the cranial basis in pediatric cases

    International Nuclear Information System (INIS)

    Oshida, Kinya; Ishimori, Shoji; Okada, Ryoho.

    1978-01-01

    It is the purpose of this paper to evaluate the low-density lesions of those pediatric cases which were treated at this hospital in the six months beginning July, 1977, using a CT scan, EMI-1010 Type. Among 1500 consecutive cases diagnosed with the CT scan, 300 pediatric cases were included. We discuss particularly eight patients, two with arachnoidal cysts, two with cystic craniopharyngiomas, two with cystic cerebellar astrocytomas and two with Dandy-Walker syndromes, one of which was accompanied by corpus callosum agenesis. The distribution of ages was from 2 to 12 years. We calculated the matrix of each slice of these patients, CT scan in the cystic lesions, the area including the cystic lesion, ventricles and brain tissue, predominantly the white matter or interhemispheric cortex including white matter, without dye enhancement. The x-ray absorption values of the low-density lesions were definitely different according to the nature of the cystic contents. The mean values of x-ray absorption, the standard deviations, and the sample sizes of each area in the matrix were compared statistically with those of cystic lesions. The mean values of the arachnoidal cysts, the contents of which were almost like CSF, were 17 - 21; that of cystic craniopharyngiomas, the contents of which were a thick yellowic fluid with cholesterin crystals, were 23 - 28; those of cerebellar astrocytomas, with Froin positive fluid, were 22 - 24; the cystic lesions of the posterior fossa in the Dandy-Walker syndrome were 8 - 13. The difference in the x-ray absorption values (Hounsfield number) were compared statistically for analyzing the differential diagnosis of these low-density lesions by calculating the P-values. All of these lesions were verified by surgical explorations. (author)

  12. Congenital thyroid hemiagenesis with multinodular goiter

    International Nuclear Information System (INIS)

    Bhartiya, SK; Verma, A; Basu, S; Shukla, VK

    2014-01-01

    Thyroid hemiagenesis is a rare form of thyroid dysgenesis characterized by an absence of half of the thyroid gland. Developmental hemi-thyroid anomalies can result from either an abnormal descent or an agenesis of one lobe of the thyroid gland. We report a case of a 40-year-old woman with history of a longstanding gradually progressive thyroid swelling without any complication. An ultrasonographic examination diagnosed the absence of the left thyroid lobe and enlargement of the right lobe, which was confirmed on a computed tomography (CT) angiogram and a radionuclide scan of the neck. A cytological examination showed nodular goiter with cystic degeneration. Right subtotal thyroidectomy was performed and histopathological examination confirmed adenomatous goiter with degenerative changes. We report the rarity of the condition and emphasize the role of a comprehensive radiological, cytological, and radionuclide algorithm for an accurate preoperative diagnosis and subsequent management

  13. Lung Ultrasound Has Limited Diagnostic Value in Rare Cystic Lung Diseases

    DEFF Research Database (Denmark)

    Davidsen, Jesper Rømhild; Bendstrup, Elisabeth; Henriksen, Daniel P

    2017-01-01

    : This single centre case-based cross-sectional study of patients diagnosed with LAM, PCLH and BHDS was conducted at a Danish DPLD specialist centre. Patients underwent clinical examination including LUS. LUS findings were compared to findings scored according to a modified Belmaati score on HRCT and reviewed...... value as a diagnostic tool in patients with LAM, PLCH, and BHDS as normal LUS findings did not rule out severe cystic lung disease....

  14. Diffusion-weighted MR imaging of cystic lesions of neurocysticercosis: a preliminary study

    International Nuclear Information System (INIS)

    Raffin, Luciana S.; Bacheschi, Luiz A.; Machado, Luis R.; Nobrega, Jose P.S.; Coelho, Christina; Leite, Claudia C.

    2001-01-01

    Neurocysticercosis is an endemic disease in some developing countries. It has pleomorfic clinical and imaging findings, which are variable from patient to patient. In this preliminary note, we studied the magnetic resonance diffusion-weighted images of sixteen patients presenting with cystic lesions of this disease diagnosed by clinical and laboratorial findings. All the lesions had hypointense signal and the similar apparent diffusion coefficient values as the cerebrospinal fluid. (author)

  15. Congenital bronchopulmonary malformation: CT histopathological correlation.

    Science.gov (United States)

    Kyncl, Martin; Koci, Martin; Ptackova, Lea; Hornofova, Ludmila; Ondrej, Fabian; Snajdauf, Jiri; Pychova, Marcela

    2016-12-01

    This study evaluated the accuracy of postnatal computed tomography (CT) imaging in the identification of congenital bronchopulmonary malformation (BPM) in comparison with histopathological analysis. CT scans of prenatally diagnosed BPMs from 24 patients with available histology were analysed retrospectively. The CT images were reviewed blinded to histological findings by two radiologists. Specific diagnosis was assigned based on predetermined criteria. The accuracy of CT was evaluated. The agreement rate in CT diagnosis between two radiologists was 100%. In 75% the lesions were located in the lower lobes. An overlap of 71% in CT and histopathological diagnoses was reached. The least matching diagnosis was type 2 CPAM. Contrast enhanced chest CT is very accurate in characterizing the BPM spectrum and provides important information on lesion type and structure.

  16. CT diagnosis of cystic ovarian lesions

    International Nuclear Information System (INIS)

    Iio, Kazuto; Shinmura, Ryoji; Arima, Naomi; Yamada, Eiichiro; Ohkubo, Koichi; Nagata, Yukihiro

    1985-01-01

    CT was undertaken and CT numbers were measured in 47 patients with cystic ovarian lesions. CT features particularly for chocolate cyst revealed the uniform thickness of the whole cystic wall, findings suggesting adhesion to the surrounding organs, circular or oval shape, and higher CT numbers within the cyst than those in the other cystic ovarian lesions. However, because these features are not always observed in cases of chocolate cyst, one should not rely solely on CT findings in the diagnosis of chocolate cyst. (Namekawa, K.)

  17. Ovarian Mature Cystic Teratoma Containing Multiple Mobile

    Energy Technology Data Exchange (ETDEWEB)

    Cho, Hyun Sun; Yoon, Seong Eon; Lee, Young Hwan; Kim, Hye Won; Yoon, Kwon Ha [Wonkwang University Hospital, Iksan (Korea, Republic of); Park, Seong Hoon [Asan Medical Center, Seoul (Korea, Republic of)

    2006-12-15

    A 48-year-old woman was admitted to our hospital with a palpable mass in her lower abdomen. A left ovarian, cystic mass containing multiple mobile globules was seen on CT and MR images. The outer portion of the globules showed fat components on CT and fat-saturated T1-weighted MR images. Ultrasonography showed multiple echogenic, mobile globules with some sound attenuation and hyper echoic lines and dots within the cystic mass, which corresponded with the presence of lipid globules and hair shafts of ovarian mature cystic teratoma, respectively

  18. Ovarian Mature Cystic Teratoma Containing Multiple Mobile

    International Nuclear Information System (INIS)

    Cho, Hyun Sun; Yoon, Seong Eon; Lee, Young Hwan; Kim, Hye Won; Yoon, Kwon Ha; Park, Seong Hoon

    2006-01-01

    A 48-year-old woman was admitted to our hospital with a palpable mass in her lower abdomen. A left ovarian, cystic mass containing multiple mobile globules was seen on CT and MR images. The outer portion of the globules showed fat components on CT and fat-saturated T1-weighted MR images. Ultrasonography showed multiple echogenic, mobile globules with some sound attenuation and hyper echoic lines and dots within the cystic mass, which corresponded with the presence of lipid globules and hair shafts of ovarian mature cystic teratoma, respectively

  19. Inhaled mannitol for cystic fibrosis.

    Science.gov (United States)

    Nevitt, Sarah J; Thornton, Judith; Murray, Clare S; Dwyer, Tiffany

    2018-02-09

    Several agents are used to clear secretions from the airways of people with cystic fibrosis. Mannitol increases mucociliary clearance, but its exact mechanism of action is unknown. The dry powder formulation of mannitol may be more convenient and easier to use compared with established agents which require delivery via a nebuliser. Phase III trials of inhaled dry powder mannitol for the treatment of cystic fibrosis have been completed and it is now available in Australia and some countries in Europe. This is an update of a previous review. To assess whether inhaled dry powder mannitol is well tolerated, whether it improves the quality of life and respiratory function in people with cystic fibrosis and which adverse events are associated with the treatment. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register which comprises references identified from comprehensive electronic databases, handsearching relevant journals and abstracts from conferences.Date of last search: 28 September 2017. All randomised controlled studies comparing mannitol with placebo, active inhaled comparators (for example, hypertonic saline or dornase alfa) or with no treatment. Authors independently assessed studies for inclusion, carried out data extraction and assessed the risk of bias in included studies. The quality of the evidence was assessed using GRADE. Six studies (reported in 50 publications) were included with a total of 784 participants.Duration of treatment in the included studies ranged from 12 days to six months, with open-label treatment for an additional six months in two of the studies. Five studies compared mannitol with control (a very low dose of mannitol or non-respirable mannitol) and the final study compared mannitol to dornase alfa alone and to mannitol plus dornase alfa. Two large studies had a similar parallel design and provided data for 600 participants, which could be pooled where data for a particular outcome and time point were

  20. Electron beam CT diagnosis of congenital unilateral absence of pulmonary artery

    International Nuclear Information System (INIS)

    Zhou Yuan; Dai Ruping; Cao Cheng; Zhang Gejun; Jing Baolian

    2003-01-01

    Objective: To evaluate the clinical value of electron beam CT (EBCT) in diagnosing congenital unilateral absence of pulmonary artery (UAPA). Methods: Patients with clinically suspected pulmonary artery disease or primary pulmonary hypertension underwent EBCT scanning. EBCT confirmed the diagnosis of UAPA in 11 patients, who were also evaluated with echocardiography and chest roentgenography. Cardioangiography and nuclear ventilation-perfusion scan were performed in some patients for a comparative study. Results: 4 female adults had UAPA with out associated congenital anomaly. 3 male children with coexisting complex congenital abnormality had unilateral absence of the left pulmonary artery and 4 patients coexisted other simple cardiovascular anomaly. EBCT scanning simultaneously displayed topographic pattern of both unilateral absence of pulmonary artery and coexisting congenital cardiovascular anomaly, as well as lung diseases. Conclusion: UAPA diagnosed in childhood usually has unilateral absence of the left pulmonary artery and associated congenital cardiovascular anomaly, while UAPA diagnosed in adult usually has UAPA on the right side without associated congenital anomaly. EBCT is one of the optimal imaging techniques in diagnosing UAPA and it greatly increases the diagnostic efficacy than echocardiography dose. Both EBCT and cardioangiography have their own advantages, however, EBCT, as a noninvasive method, should be complementary and not exclusive

  1. Duodenum-preserving total pancreatic head resection for benign cystic neoplastic lesions.

    Science.gov (United States)

    Beger, Hans G; Schwarz, Michael; Poch, Bertram

    2012-11-01

    Cystic neoplasms of the pancreas are diagnosed frequently due to early use of abdominal imaging techniques. Intraductal papillary mucinous neoplasm, mucinous cystic neoplasm, and serous pseudopapillary neoplasia are considered pre-cancerous lesions because of frequent transformation to cancer. Complete surgical resection of the benign lesion is a pancreatic cancer preventive treatment. The application for a limited surgical resection for the benign lesions is increasingly used to reduce the surgical trauma with a short- and long-term benefit compared to major surgical procedures. Duodenum-preserving total pancreatic head resection introduced for inflammatory tumors in the pancreatic head transfers to the patient with a benign cystic lesion located in the pancreatic head, the advantages of a minimalized surgical treatment. Based on the experience of 17 patients treated for cystic neoplastic lesions with duodenum-preserving total pancreatic head resection, the surgical technique of total pancreatic head resection for adenoma, borderline tumors, and carcinoma in situ of cystic neoplasm is presented. A segmental resection of the peripapillary duodenum is recommended in case of suspected tissue ischemia of the peripapillary duodenum. In 305 patients, collected from the literature by PubMed search, in about 40% of the patients a segmental resection of the duodenum and 60% a duodenum and common bile duct-preserving total pancreatic head resection has been performed. Hospital mortality of the 17 patients was 0%. In 305 patients collected, the hospital mortality was 0.65%, 13.2% experienced a delay of gastric emptying and a pancreatic fistula in 18.2%. Recurrence of the disease was 1.5%. Thirty-two of 175 patients had carcinoma in situ. Duodenum-preserving total pancreatic head resection for benign cystic neoplastic lesions is a safe surgical procedure with low post-operative morbidity and mortality.

  2. Clinical significance of magnetic resonance cholangiopancreatography for the diagnosis of cystic tumor of the pancreas compared with endoscopic retrograde cholangiopancreatography and computed tomography

    International Nuclear Information System (INIS)

    Mera, Kiyomi; Tajiri, Hisao; Muto, Manabu

    1999-01-01

    Cystic tumor of the pancreas has been investigated by a variety of imaging techniques. Magnetic resonance cholangiopancreatography (MRCP) is being widely used as a non-invasive diagnostic modality for investigation of the biliary tree and pancreatic duct system. The purpose of this study was to compare MRCP images with those of endoscopic retrograde cholangiopancreatography (ERCP) and computed tomography (CT) in order to clarify the diagnostic efficacy of MRCP for cystic tumor of the pancreas. We retrospectively studied 15 patients with cystic tumor of the pancreas that had been surgically resected and histopathologically confirmed. There were five cases of intraductal papillary adenocarcinoma, five of intraductal papillary adenoma, two of serous cyst adenoma, two of retention cyst associated with invasive ductal adenocarcinoma and one of solid cystic tumor. In all cases MRCP correctly identified the main pancreatic duct (MPD) and showed the entire cystic tumor and the communication between the tumor and the MPD. On the other hand, the detection rate by ERCP of the cystic tumor and the communication between the cystic tumor and the MPD was only 60%. Although the detection rates by CT for the septum and solid components inside the cystic tumor were 100 and 90.0%, respectively, those of MRCP for each were 58.3 and 20.0%. MRCP is capable of providing diagnostic information superior to ERCP for the diagnosis of cystic tumor of the pancreas. Although MRCP may provide complementary information about the whole lesion of interest, the characteristic internal features of cystic tumor of the pancreas should be carefully diagnosed in combination with CT. (author)

  3. 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...... by specific clinical features, and, as each appeared to be associated with specific imprinting defects, they have been widely regarded as separate entities. However, they share clinical characteristics and can show overlapping molecular alterations. Nevertheless, IDs are usually studied separately despite...... 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...

  4. 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.)

  5. Congenital Hepatic Cyst

    Directory of Open Access Journals (Sweden)

    Aldo Recinos

    2017-04-01

    Full Text Available Congenital hepatic cyst is a rare and nonsymptomatic condition in infants and children. Its incidence is 2.5% in the postnatal life with a much lower incidence in the prenatal period. Incidental finding on antenatal imaging is the most common presentation. We present a case of a newborn in whom fetal ultrasound detected a cyst within the fetal liver. Postnatal imaging revealed a liver cyst in the right lobe of the liver, with no other intrahepatic structure affected. Liver function tests were abnormal, but the patient was asymptomatic. Posterior follow-up imaging showed a minor decrease in size. Management of congenital hepatic cyst is usually conservative, done with periodic ultrasound monitoring. However, surgical treatment is the mainstay of treatment when hydrops, progressive enlargement, hemorrhage, torsion, or compression of adjacent structures occurs. Malignant transformation can occur, but it is extremely rare. Partial or total removal of the cyst is the preferred treatment in neonates with a large lesion.

  6. Congenital diaphramatic hernia

    International Nuclear Information System (INIS)

    Kline-Fath, Beth M.

    2012-01-01

    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.)

  7. Characterizing Congenital Amusia

    OpenAIRE

    Stewart, Lauren

    2011-01-01

    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 ...

  8. The heart: Congenital disease

    International Nuclear Information System (INIS)

    Higgins, C.B.

    1987-01-01

    The most important diagnostic requirement in congenital heart disease (CHD) is definition of cardiovascular pathoanatomy. The considerable success in operative correction of even the most complex anomalies in recent years compels ever increasing precision in preoperative demonstration of these anomalies. Early experience with magnetic resonance imaging (MRI) at several institutions indicated that this modality is an effective noninvasive technique for evaluation of CHD. Indeed, MRI seems to have some advantage over other techniques, including angiography, for definitive diagnosis of congenital anomalies of the heart and great arteries and veins. The absence of ionizing radiation and contrast medium in MRI is an additional advantage; the former is particularly important for children, who, up to this time, have frequently been subjected to enormous radiation burdens from multiple cineangiograms during initial diagnosis and follow-up. This chapter describes the MRI appearance of cardiovascular anatomy im the segmental fashion proposed for analysis of complex CHD. Likewise, MRI demonstration of congenital cardiovascular lesions is organized into abnormalities situated at the four segmental cardiovascular levels: great vessels, atria, ventricles, and visceroatrial relationship. The role of MRI in evaluation of complex ventricular anomalies such as single ventricle and thoracic aortic abnormalities is specifically described

  9. Congenital malformations of the external and middle ear

    International Nuclear Information System (INIS)

    Koesling, S.; Omenzetter, M.; Bartel-Friedrich, S.

    2009-01-01

    With the focus on imaging, this paper gives a summarized view of the present knowledge on fields, which are necessary to know for a profound understanding of congenital malformations of the external and middle ear. Typical and less typical combinations of malformed parts of the ear can be derived from the embryogenesis. Clinical signs and audiometric findings lead to diagnosis in congenital aural atresia. Isolated middle ear malformations can be clinically mixed up especially with otosclerosis and tympanosclerosis. Imaging is needed for exact morphological information. In malformations of the external and middle ear, CT is the imaging modality of choice. Requirements on CT-technique as well as radiological findings including classification and pre-surgical rating are described. Morphological CT-correlates of congenital malformations and their differential diagnoses are enlisted and illustrated. The impact of CT-results on therapy is explained and actual therapeutic concepts are briefly presented

  10. Long term ocular and neurological involvement in severe congenital toxoplasmosis.

    Science.gov (United States)

    Meenken, C; Assies, J; van Nieuwenhuizen, O; Holwerda-van der Maat, W G; van Schooneveld, M J; Delleman, W J; Kinds, G; Rothova, A

    1995-06-01

    This study was set up to determine the long term ocular and systemic sequelae in patients with severe congenital toxoplasmosis. Cross sectional and retrospective study of 17 patients with severe congenital toxoplasmosis. In addition to chorioretinitis (100%), the most common abnormal ocular features were optic nerve atrophy (83%), visual acuity of less than 0.1 (85%), strabismus, and microphthalmos. In 50% of cases we observed iridic abnormalities and about 40% developed a cataract. Overt endocrinological disease, diagnosed in five of 15 patients, included panhypopituitarism (n = 2), gonadal failure with dwarfism (n = 1), precocious puberty with dwarfism and thyroid deficiency (n = 1), and diabetes mellitus and thyroid deficiency (n = 1). The observed endocrinological involvement was associated in all cases with obstructive hydrocephalus with a dilated third ventricle and optic nerve atrophy. The recognition of long term ocular, neurological, and endocrinological sequelae of congenital toxoplasmosis is important for medical management of these severely handicapped patients.

  11. Cystic mesothelioma of the peritoneum.

    Science.gov (United States)

    Datta, R V; Paty, P B

    1997-10-01

    A 48-year-old man presented with a 3-month history of weight loss and progressive right lower quadrant abdominal pain. His medical history was notable for appendectomy at age 17. Ultrasonography and computed tomography of the abdomen revealed a 12 cm multicystic mass in the right paracolic space. At laparotomy a large serous cyst was found arising from the lateral wall of the cecum, and four additional small cysts were found on the small bowel mesentery, greater omentum, liver capsule, and right hemi-diaphragm. Complete removal of the tumor was accomplished by right colectomy with extraperitoneal dissection of the large cyst and simple excision of the four smaller cysts. Final pathology with immunohistochemical staining confirmed cystic mesothelioma of the peritoneum. In this report we discuss the diagnostic workup and treatment of this rare disease.

  12. European Cystic Fibrosis Society Standards of Care

    DEFF Research Database (Denmark)

    Stern, Martin; Bertrand, Dominique Pougheon; Bignamini, Elisabetta

    2014-01-01

    Since the earliest days of cystic fibrosis (CF) treatment, patient data have been recorded and reviewed in order to identify the factors that lead to more favourable outcomes. Large data repositories, such as the US Cystic Fibrosis Registry, which was established in the 1960s, enabled successful ...... to indicators of health, the role of CF Centres, regional networks, national health policy, and international data registration and comparisons.......Since the earliest days of cystic fibrosis (CF) treatment, patient data have been recorded and reviewed in order to identify the factors that lead to more favourable outcomes. Large data repositories, such as the US Cystic Fibrosis Registry, which was established in the 1960s, enabled successful...... therapies, approaches to care and indeed data recording. The quality of care for individuals with CF has become a focus at several levels: patient, centre, regional, national and international. This paper reviews the quality management and improvement issues at each of these levels with particular reference...

  13. Nutrition in Cystic Fibrosis: Macro- and Micronutrients

    NARCIS (Netherlands)

    Oudshoorn, Johanna Hermiena

    2006-01-01

    Cystic fibrosis (CF) is the most common life-threatening autosomal recessive inherited disease in Caucasians, and is characterized by progressive lung disease, pancreatic insufficiency, malnutrition, hepatobiliary disease and elevated sweat electrolyte levels. The increased survival of CF patients

  14. Congenital dilatation of the large and segmental intrahepatic bile ducts (Caroli's disease in two Golden retriever littermates : clinical communication

    Directory of Open Access Journals (Sweden)

    R.D. Last

    2006-06-01

    Full Text Available Two, sibling, male Golden retriever puppies, 13 weeks of age, were presented with congenital biliary cysts of the liver involving both hepatic and segmental bile ducts, as well as bilateral polycystic kidney disease. Ultrasonography of the livers of both pups demonstrated segmental cystic lesions that were contiguous with the bile ducts. Histopathology revealed cystic ectatic bile duct hyperplasia and dysplasia with variable portal fibrosis in the liver, while in the kidneys there were radially arranged, cylindrically dilated cysts of the collecting ducts, which extended through the medulla and cortex. This pathology was compatible with that of congenital dilatation of the large and segmental bile ducts (Caroli's disease described in humans, dogs and rats. In humans Caroli's disease has an autosomal recessive inheritance pattern, while in rats activation of the MEK5/ERK cascade initiates the biliary dysgenesis of Caroli's disease in this species. However, the exact mode of inheritance and pathogenesis of Caroli's disease in dogs is as yet unknown. Previous reports on congenital hepatic cystic diseases of the dog have described Caroli's disease like lesions in various breeds, but these are believed to be the 1st reported cases in the Golden retriever breed.

  15. Can miRNA Biomarkers Be Utilized to Improve the Evaluation and Management of Pancreatic Cystic Lesions?

    Directory of Open Access Journals (Sweden)

    Lee Linda S.

    2014-01-01

    Full Text Available This article reviews the current strategies and challenges of diagnosing pancreatic cystic lesions, and presents an overview of molecular tools that are available to enhance diagnostic accuracy. Specifically, we highlight the emergence of microRNAs (miRNAs as diagnostic markers. miRNA signatures have been reported for both solid tissue and biofluid specimens, including cyst fluid, collected from patients with solid and cystic pancreatic lesions. These miRNA signatures offer the opportunity to improve molecular characterization of pancreatic lesions, to help guide clinical management through early diagnosis and informed prognosis, and to provide novel therapeutic targets for pancreatic cancer.

  16. Radiology of congenital heart disease

    International Nuclear Information System (INIS)

    Amplatz, K.

    1986-01-01

    This is a text on the radiologic diagnosis of congenital heart disease and its clinical manifestations. The main thrust of the book is the logical approach which allows an understanding of the complex theory of congenital heart disease. The atlas gives a concise overview of the entire field of congenital heart disease. Emphasis is placed on the understanding of the pathophysiology and its clinical and radiological consequences. Surgical treatment is included since it provides a different viewpoint of the anatomy

  17. Festival food coma in cystic fibrosis.

    Science.gov (United States)

    Pandit, Chetan; Graham, Christie; Selvadurai, Hiran; Gaskin, Kevin; Cooper, Peter; van Asperen, Peter

    2013-07-01

    Children with cystic fibrosis liver disease and portal hypertension are at risk of developing acute hepatic encephalopathy. Even in the presence of normal synthetic liver function these children may have porto-systemic shunting. We report a case of an adolosecent who had cystic fibrosis liver disease and presented with life threatening hepatinc encephalopathy. This case illustrates that it is necessary to consider an appropriate dietary regimen in adolosecents with liver disease to prevent hepatic decompensation. Copyright © 2012 Wiley Periodicals, Inc.

  18. Congenital and childhood atrioventricular blocks: pathophysiology and contemporary management.

    Science.gov (United States)

    Baruteau, Alban-Elouen; Pass, Robert H; Thambo, Jean-Benoit; Behaghel, Albin; Le Pennec, Solène; Perdreau, Elodie; Combes, Nicolas; Liberman, Leonardo; McLeod, Christopher J

    2016-09-01

    Atrioventricular block is classified as congenital if diagnosed in utero, at birth, or within the first month of life. The pathophysiological process is believed to be due to immune-mediated injury of the conduction system, which occurs as a result of transplacental passage of maternal anti-SSA/Ro-SSB/La antibodies. Childhood atrioventricular block is therefore diagnosed between the first month and the 18th year of life. Genetic variants in multiple genes have been described to date in the pathogenesis of inherited progressive cardiac conduction disorders. Indications and techniques of cardiac pacing have also evolved to allow safe permanent cardiac pacing in almost all patients, including those with structural heart abnormalities. Early diagnosis and appropriate management are critical in many cases in order to prevent sudden death, and this review critically assesses our current understanding of the pathogenetic mechanisms, clinical course, and optimal management of congenital and childhood AV block. • Prevalence of congenital heart block of 1 per 15,000 to 20,000 live births. AV block is defined as congenital if diagnosed in utero, at birth, or within the first month of life, whereas childhood AV block is diagnosed between the first month and the 18th year of life. As a result of several different etiologies, congenital and childhood atrioventricular block may occur in an entirely structurally normal heart or in association with concomitant congenital heart disease. Cardiac pacing is indicated in symptomatic patients and has several prophylactic indications in asymptomatic patients to prevent sudden death. • Autoimmune, congenital AV block is associated with a high neonatal mortality rate and development of dilated cardiomyopathy in 5 to 30 % cases. What is New: • Several genes including SCN5A have been implicated in autosomal dominant forms of familial progressive cardiac conduction disorders. • Leadless pacemaker technology and gene therapy for

  19. 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.

  20. CT findings in skeletal cystic echinococcosis

    Energy Technology Data Exchange (ETDEWEB)

    Tuezuen, M.; Hekimoglu, B. [Social Security Hospital, Ankara (Turkey). Dept. of Radiology

    2002-09-01

    Purpose: To evaluate the CT findings of skeletal cystic echinococcosis. Material and Methods: CT findings of 7 patients with pathologically confirmed skeletal cystic echinococcosis were evaluated. Results: There were 4 men and 3 women, aged 36-75 years. Hydatid cysts were located in the spine (n=2), a rib (n=3), the pelvis and a vertebra (n=1), the pelvis and the left femur (n=1). The size of the lesions varied from 1 cm to 15 cm. CT showed well defined, single or multiple cystic lesions with no contrast enhancement, no calcification, no daughter cysts, and no germinal membrane detachment. The cystic lesion had a honeycomb appearance in 2 cases, there was pathologic fracture in 2 cases, bone expansion in 5 cases, cortical thinning in 6 cases, cortical destruction in 6 cases, bone sclerosis in 1 case, and soft tissue extension in 6 cases. Conclusion: Preoperative differential diagnosis of skeletal cystic lesions should include cystic echinococcosis, especially in endemic areas, since this diagnosis may easily be missed unless kept in mind.

  1. Renal cystic disease: A practical overview

    International Nuclear Information System (INIS)

    Hartman, D.S.

    1987-01-01

    Renal cystic disease includes a group of lesions with extremely diverse clinical, radiographic, and pathologic findings. The recent development of multiple imaging systems to study renal cystic disease has resulted in considerable interest in correlating the images obtained by different modalities with each other and with the underlying gross pathology. A thorough knowledge of the disturbed morphology and natural history of these diseases will lead to a better understanding of their appearance on radiologic imaging. This refresher course correlates disturbed morphology with appearances on diagnostic imaging, urography, US, angiography, CT, and MR imaging. The advantages and limitations of each imaging method are detailed. A practical classification emphasizing differential features is presented. The presentation is divided into two parts. In the first part typical and atypical cystic masses, including acquired cystic disease (from dialysis), Von Hippel-Lindau disease, and the cystic disease of tuberous sclerosis are discussed. In the second part, polycystic kidney disease (dominant and recessive), medullary cystic disease, medullary sponge kidney, multicycle-dysplastic kidney, renal sinus cysts (peripelvic), and pluricystic kidney disease are discussed

  2. Intrauterine demise due to congenital mesoblastic nephroma in a fetus conceived by assisted reproductive technology.

    Science.gov (United States)

    De Paepe, Monique E; Shapiro, Svetlana; Young, Lawrence; Carr, Stephen R; Gundogan, Fusun

    2011-03-01

    To report a case of antenatally diagnosed congenital mesoblastic nephroma in an assisted reproductive technology (ART) conception. Case report. Tertiary care university-affiliated hospital. Fetus of 26-weeks' gestation with antenatally diagnosed large abdominal tumor. ART with transfer of cryopreserved embryo. Postmortem examination. Examination revealed a congenital mesoblastic nephroma, mixed classic and cellular type, with marked intratumoral hemorrhage and associated hydrops. The marked fetal erythroblastosis was suggestive of fetal response to pronounced anemia. Intrauterine demise is attributed to fetal intratumoral hemorrhage and early nonimmune hydrops secondary to a large congenital mesoblastic nephroma. This is the third reported case of congenital mesoblastic nephroma in an ART conception. Whether the association between mesoblastic nephroma and ART is coincidental or causative remains to be determined. Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  3. Incidence of environmental and genetic factors causing congenital cataract in Children of Lahore.

    Science.gov (United States)

    Naz, Shagufta; Sharif, Saima; Badar, Hafsa; Rashid, Farzana; Kaleem, Afshan; Iqtedar, Mehwish

    2016-07-01

    To check the incidence of environmental and genetic factors causing congenital cataract in infants. The descriptive study was conducted at Layton Rahmatullah Benevolent Trust, Lahore, Pakistan, from October 2013 to April 2014, and comprised children under 15 years of age who had rubella syndrome, herpes simplex, birth trauma, trisomy 21, Nance-Horan syndrome or Lowe's syndrome. Of the 38,000 cases examined, 120(0.3%) patients were diagnosed with congenital cataract. Of them, 52(43.33%)were aged between 2 and 5 years,22(18.33%) <11 years and 10(8.33%) ?15 years. Bilateral congenital cataract was observed in 91(75.83%) patients and unilateral congenital cataract in 29(24.17%). Environmental factors caused 72(62.07%) cases and genetic factors caused 44(37.93%).. Congenital cataract predominated in boys compared to girls. Early diagnosis and adequate therapy requires specific technology, as well as long-term and permanent care..

  4. Congenital candidiasis as a subject of research in medicine and human ecology.

    Science.gov (United States)

    Skoczylas, Michał M; Walat, Anna; Kordek, Agnieszka; Loniewska, Beata; Rudnicki, Jacek; Maleszka, Romuald; Torbé, Andrzej

    2014-01-01

    Congenital candidiasis is a severe complication of candidal vulvovaginitis. It occurs in two forms,congenital mucocutaneous candidiasis and congenital systemic candidiasis. Also newborns are in age group the most vulnerable to invasive candidiasis. Congenital candidiasis should be considered as an interdisciplinary problem including maternal and fetal condition (including antibiotic therapy during pregnancy), birth age and rare genetic predispositions as severe combined immunodeficiency or neutrophil-specific granule deficiency. Environmental factors are no less important to investigate in diagnosing, treatment and prevention. External factors (e.g., food) and microenvironment of human organism (microflora of the mouth, intestine and genitalia) are important for solving clinical problems connected to congenital candidiasis. Physician knowledge about microorganisms in a specific compartments of the microenvironment of human organism and in the course of defined disorders of homeostasis makes it easier to predict the course of the disease and allows the development of procedures that can be extremely helpful in individualized diagnostic and therapeutic process.

  5. Genetics Home Reference: congenital mirror movement disorder

    Science.gov (United States)

    ... Health Conditions Congenital mirror movement disorder Congenital mirror movement disorder Printable PDF Open All Close All Enable ... view the expand/collapse boxes. Description Congenital mirror movement disorder is a condition in which intentional movements ...

  6. Trends in congenital anomalies in Europe from 1980 to 2012

    Science.gov (United States)

    Springett, Anna L.; Greenlees, Ruth; Loane, Maria; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Bergman, Jorieke E. H.; Csaky-Szunyogh, Melinda; Dias, Carlos; Draper, Elizabeth S.; Garne, Ester; Gatt, Miriam; Khoshnood, Babak; Klungsoyr, Kari; Lynch, Catherine; McDonnell, Robert; Nelen, Vera; Neville, Amanda J.; O'Mahony, Mary; Pierini, Anna; Queisser-Luft, Annette; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Kurinczuk, Jennifer; Tucker, David; Verellen-Dumoulin, Christine; Wellesley, Diana; Dolk, Helen

    2018-01-01

    Background Surveillance of congenital anomalies is important to identify potential teratogens. Methods This study analysed the prevalence of 61 congenital anomaly subgroups (excluding chromosomal) in 25 population-based EUROCAT registries (1980–2012). Live births, fetal deaths and terminations of pregnancy for fetal anomaly were analysed with multilevel random-effects Poisson regression models. Results Seventeen anomaly subgroups had statistically significant trends from 2003–2012; 12 increasing and 5 decreasing. Conclusions The annual increasing prevalence of severe congenital heart defects, single ventricle, atrioventricular septal defects and tetralogy of Fallot of 1.4% (95% CI: 0.7% to 2.0%), 4.6% (1.0% to 8.2%), 3.4% (1.3% to 5.5%) and 4.1% (2.4% to 5.7%) respectively may reflect increases in maternal obesity and diabetes (known risk factors). The increased prevalence of cystic adenomatous malformation of the lung [6.5% (3.5% to 9.4%)] and decreased prevalence of limb reduction defects [-2.8% (-4.2% to -1.5%)] are unexplained. For renal dysplasia and maternal infections, increasing trends may be explained by increased screening, and deceases in patent ductus arteriosus at term and increases in craniosynostosis, by improved follow up period after birth and improved diagnosis. For oesophageal atresia, duodenal atresia/stenosis and ano-rectal atresia/stenosis recent changes in prevalence appeared incidental when compared with larger long term fluctuations. For microcephaly and congenital hydronephrosis trends could not be interpreted due to discrepancies in diagnostic criteria. The trends for club foot and syndactyly disappeared once registries with disparate results were excluded. No decrease in neural tube defects was detected, despite efforts at prevention through folic acid supplementation. PMID:29621304

  7. [Pancreatic infringement exocrine and endocrine in cystic fibrosis].

    Science.gov (United States)

    Kessler, L; Abély, M

    2016-12-01

    The exocrine pancreatic insufficiency affects more than 80% of cystic fibrosis (CF) infants. Pancreatic insufficiency is diagnosed by low levels of fecal elastase. An optimal caloric intake, a pancreatic enzyme treatment are the keys to maintain a good nutritional status. The fat soluble vitamins supplementation will be associated with pancreatic enzymes treatment and will be adapted to plasma levels. Iron and oligo-element deficiency such as zinc is common. The pancreatic enzymes function is not optimal in the proximal bowel: the intraluminal intestinal pH is low because of the absence of bicarbonate release by the pancreas. The use of proton pump inhibitors may improve the functionality of pancreatic enzymes treatment. New therapies such as ivacaftor in patients with a G551D mutation allows a weight gain in particular by restoring intestinal pH similar to controls. Lengthening of the life expectancy of patients with CF is accompanied by the emergence new aspects of the disease, especially diabetes, favored by pancreatic cystic fibrosis resulting in an anatomical destruction of pancreatic islets. Currently, diabetes affects a third of the patients after 20 years, and half after 30 years. Cystic fibrosis-related diabetes is a major factor of morbidity-mortality in all stages of the disease and is characterized by a preclinical phase of glucose intolerance particularly long reaching up to 10 years. Its pathophysiology combines a lack of insulin secretion, an insulin resistance secondary to chronic infection, and a decrease in the production of the GIP and GLP-1. The insulin secretion depending on the channel chlorine (Cystic Fibrosis Transmembrane conductance Regulator [CFTR]) activity at the membrane surface of insulin cell is reduced prior to the occurrence of pancreatic histological lesions. At the stage of diabetes, obtaining a normoglycemia by insulin treatment began very early allows to slow the decline of lung function and nutritional status. Given the silent

  8. Risk of gastrointestinal cancers in patients with cystic fibrosis: a systematic review and meta-analysis.

    Science.gov (United States)

    Yamada, Akihiro; Komaki, Yuga; Komaki, Fukiko; Micic, Dejan; Zullow, Samantha; Sakuraba, Atsushi

    2018-04-26

    The management and life expectancy of patients with cystic fibrosis have improved substantially in the past three decades, which has resulted in an increased number of these patients being diagnosed with malignancies. Our aim was to assess the risk of gastrointestinal cancers in patients with cystic fibrosis. In this systematic review and meta-analysis, we searched PubMed, MEDLINE, Google Scholar, Scopus, Embase, and Cochrane databases with no language restrictions for studies published from inception of the databases to Aug 1, 2017, assessing the risk of gastrointestinal cancers in patients with cystic fibrosis. We also searched abstracts from scientific meetings and the bibliographies of identified articles for additional references. Studies were included if they reported the standardised incidence ratio (SIR) or incidence ratio per person-years. No exclusion criteria with regard to patient characteristics (age, sex, comorbidities, cystic fibrosis mutation type), study setting (location and time period), or method of reporting cancer diagnoses were applied. The primary outcome was risk of gastrointestinal cancer and site-specific gastrointestinal cancers in patients with cystic fibrosis compared with the general population. Pooled summary estimates were calculated using a random-effects model, and subgroup analyses were done to establish whether risk of gastrointestinal cancer varied according to patient lung transplant status. The study is registered with PROSPERO, number CRD42017075396. Our search identified 95 681 records, of which six cohort studies including 99 925 patients (544 695 person-years) were eligible for the meta-analysis. The overall risk of gastrointestinal cancer was significantly higher in patients with cystic fibrosis than in the general population (pooled SIR 8·13, 95% CI 6·48-10·21; pcystic fibrosis who had a lung transplant was increased compared with that of patients who did not receive a transplant (pooled SIR 21·13, 95% CI 14

  9. Incidentally Detected Primary Giant Renal Cystic Enchinococcosis in a Young Patient: An Underestimated Entity?

    Directory of Open Access Journals (Sweden)

    Emre Urer

    2015-01-01

    Full Text Available Echinococcosis is a parasitic infestation caused by Echinococcus granulosus and is an endemic disease in many parts of world. The symptoms and signs depend on the location and size of the cyst. Renal cystic echinococcosis or hydatid cyst (HC disease of the kidney is extremely rare and constitutes only 2-4% of all cases of hydatid disease (HD. We present a 39-year-old male patient who was referred to our outpatient clinic with cystic right kidney mass that was incidentally diagnosed during hepatobiliary ultrasound for chronic hepatitis B evaluation. Routine blood tests were normal without eosinophilia. Indirect haemagglutination test was negative. Abdominal kidneys, ureters, and bladder X-ray showed an 83×95 mm sized curvilinear calcification in the right upper abdominal quadrant. Abdominal computed tomography scan and magnetic resonance imaging demonstrated a 10x9x10 cm sized cystic mass arising from the middle pole of the right kidney, destructing the whole upper pole and extending into the liver. Daughter vesicles were present in the cystic lesion suggesting renal HD. Right retroperitoneal exploration with flank approach and right radical nephrectomy was performed without any complications. Pathology confirmed HC lesion. Following surgery, albendazole 400 mg per os twice daily for 4 weeks was suggested.

  10. Infertility, infertility treatment, and congenital malformations: Danish national birth cohort

    Science.gov (United States)

    Zhu, Jin Liang; Basso, Olga; Obel, Carsten; Bille, Camilla; Olsen, Jørn

    2006-01-01

    Objectives To examine whether infertile couples (with a time to pregnancy of > 12 months), who conceive naturally or after treatment, give birth to children with an increased prevalence of congenital malformations. Design Longitudinal study. Setting Danish national birth cohort. Participants Three groups of liveborn children and their mothers: 50 897 singletons and 1366 twins born of fertile couples (time to pregnancy ≤ 12 months), 5764 singletons and 100 twins born of infertile couples who conceived naturally (time to pregnancy > 12 months), and 4588 singletons and 1690 twins born after infertility treatment. Main outcome measures Prevalence of congenital malformations determined from hospital discharge diagnoses. Results Compared with singletons born of fertile couples, singletons born of infertile couples who conceived naturally or after treatment had a higher prevalence of congenital malformations—hazard ratios 1.20 (95% confidence interval 1.07 to 1.35) and 1.39 (1.23 to 1.57). The overall prevalence of congenital malformations increased with increasing time to pregnancy. When the analysis was restricted to singletons born of infertile couples, babies born after treatment had an increased prevalence of genital organ malformations (hazard ratio 2.32, 1.24 to 4.35) compared with babies conceived naturally. No significant differences existed in the overall prevalence of congenital malformations among twins. Conclusions Hormonal treatment for infertility may be related to the occurrence of malformations of genital organs, but our results suggest that the reported increased prevalence of congenital malformations seen in singletons born after assisted reproductive technology is partly due to the underlying infertility or its determinants. The association between untreated infertility and congenital malformations warrants further examination. PMID:16893903

  11. Prevalence of dyslipidemia in adults with cystic fibrosis.

    Science.gov (United States)

    Rhodes, Bronwen; Nash, Edward F; Tullis, Elizabeth; Pencharz, Paul B; Brotherwood, Michelle; Dupuis, Annie; Stephenson, Anne

    2010-01-01

    A high fat calorie diet is advocated for patients with cystic fibrosis (CF) however the lipid profiles of individuals with CF, including those with CF-related diabetes (CFRD), are not well studied. We conducted a retrospective review of adult CF patients attending St Michael's Hospital between January 2005 and December 2007. 334 patients (77% pancreatic insufficient (PI)) were included in the study. Mean HDL cholesterol was significantly lower in males (p201mg/dL(5.2mmol/L) (p195mg/dL(2.2mmol/L). Diabetes was diagnosed in 23% of subjects. Lipid profiles were similar between diabetics and non-diabetics. Total cholesterol and triglycerides both increased with increasing age and increasing BMI (pdiabetes and those without. Fasting lipids should be monitored in CF patients, particularly those with PS, older age, and high BMI. As survival in CF increases, the prevalence of dyslipidemia may increase resulting in clinically important complications.

  12. Lack of harmonization in sweat testing for cystic fibrosis

    DEFF Research Database (Denmark)

    Lindegaard Christiansen, Anne; Nybo, Mads

    2014-01-01

    interpretation and referred literature. Results. 14 departments performed the sweat test. One department measured chloride and sodium concentration, while 13 departments measured conductivity. One department used a non-existing NPU code, two departments applied NPU codes inconsistent with the method performed......, four departments applied no NPU code and seven applied a correct NPU code. Ten of the departments measuring conductivity applied reference intervals. Nine departments measuring conductivity had recommendations of a normal area, a grey zone and a pathological value, while four departments only applied...... a normal and grey zone or a pathological value. Cut-off values for normal, grey and pathological areas were like the reference intervals inconsistent. Conclusion. There is inconsistent use of NPU codes, reference intervals and interpretation of sweat conductivity used in the process of diagnosing cystic...

  13. Incidence of legal abortions and congenital abnormalities in Hungary

    International Nuclear Information System (INIS)

    Czeizel, A.E.

    1991-01-01

    The annual and monthly distributions of congenital abnormalities and pregnancy outcomes as confounding factors were evaluated in Hungary in reflection of the accident at the Chernobyl reactor. The different congenital abnormality entities and the components of fetal radiation syndrome did not show a higher rate after the Chernobyl accident in the data-set of the Hungarian Congenital Abnormality Registry. Among confounding factors, the rate of induced abortions did not increase after the Chernobyl accident in Hungary. In the 9th month after the peak of public concern (May and June, 1986) the rate of livebirths decreased. Three indicator conditions: 15 sentinel anomalies as indicators of germinal dominant gene mutations, Down syndrome as an indicator of germinal numerical and structural chromosomal mutations, and unidentified multiple congenital abnormalities as indicators of germinal dominant gene and chromosomal mutations were selected from the material of the Hungarian Congenital Abnormality Registry. Diagnoses were checked, familial and sporadic cases were separated and only the sporadic cases were evaluated. The analysis of indicator conditions did not reveal any measurable germinal mutagenic effect of the Chernobyl accident in Hungary

  14. Universal newborn screening for congenital CMV infection: what is the evidence of potential benefit?†

    OpenAIRE

    Cannon, Michael J.; Griffiths, Paul D.; Aston, Van; Rawlinson, William D.

    2014-01-01

    Congenital CMV infection is a leading cause of childhood disability. Many children born with congenital CMV infection are asymptomatic or have nonspecific symptoms and therefore are typically not diagnosed. A strategy of newborn CMV screening could allow for early detection and intervention to improve clinical outcomes. Interventions might include antiviral drugs or nonpharmaceutical therapies such as speech-language therapy or cochlear implants. Using published data from developed countries,...

  15. Lung herniation into pericardial cavity: A case of partial congenital absence of right pericardium

    Directory of Open Access Journals (Sweden)

    Sadashiv B Tamagond

    2012-01-01

    Full Text Available Congenital absence of pericardium is rarely seen, often diagnosed intraoperatively during cardiac and thoracic surgeries. Left-sided pericardial defects are more common than right-sided ones. We present a case of an incidentally detected congenital absence of right pericardium with herniation of part of the right lung during ventricular septal defect closure surgery in a male child aged 4 years.

  16. A rare presentation of a child with osteogenesis imperfecta and congenital laryngomalacia for herniotomy

    Directory of Open Access Journals (Sweden)

    Roshith Chandran

    2011-01-01

    Full Text Available Sometimes anaesthesiologists come across rare congenital anomalies in their practice. The inherent complications associated with the disorder necessitate tailor-made approaches for providing anaesthesia to even seemingly simple surgical interventions. Here, we share our experience of anaesthesia management of an infant with congenital laryngomalacia and recently diagnosed osteogenesis imperfecta type 1 who had presented to us with an acute abdomen for a semi-emergency herniotomy.

  17. Cognitive Outcomes for Congenital Hypothyroid and Healthy Children: A Comparative Study

    OpenAIRE

    Mahtab ORDOOEI; Hadi MOTTAGHIPISHEH; Razieh FALLAH*; Azar RABIEE

    2014-01-01

    How to Cite This Article: Ordooei M, MottaghiPisheh H, Fallah R, Rabiee A. Cognitive Outcomes for Congenital Hypothyroid andHealthy Children: A Comparative Study. Iran J Child Neurol. 2014 Autumn;8(4): 28-32.AbstractObjectiveEarly diagnosis and treatment of congenital hypothyroidism (CH) and the prevention of developmental retardation is the main goal of public health national screening programs. This study compares the cognitive ability of children with CH diagnosed by neonatal screening wit...

  18. A review of congenital lung malformations with a simplified classification system for clinical and research use.

    Science.gov (United States)

    Seear, Michael; Townsend, Jennifer; Hoepker, Amy; Jamieson, Douglas; McFadden, Deborah; Daigneault, Patrick; Glomb, William

    2017-06-01

    Congenital lung abnormalities are rare malformations increasingly detected early by prenatal ultrasound. Whether management of these frequently asymptomatic lesions should be surgical or conservative is an unresolved issue. The necessary prospective studies are limited by the absence of a widely accepted practical classification system. Our aim was to develop a simple, clinically relevant system for classifying and studying congenital lung abnormalities. We based our proposed grouping on a detailed analysis of clinical, radiological, and histological data from well-documented cases, plus an extensive review of the literature. The existence of hybrid lesions and common histological findings suggested a unified embryological mechanism-possibly obstruction of developing airways with distal dysplasia. Malformations could be classified by their anatomical and pathological findings; however, a system based on the prenatal ultrasound plus initial chest X-ray findings had greater clinical relevance: Group 1-Congenital solid/cystic lung malformation, Group 2-Congenital hyperlucent lobe, Group 3-Congenital small lung. Pathological classification is academically important but is unnecessarily complex for clinical and research use. Our simple radiological-based system allows unambiguous comparison between the results of different studies and also guides the choice of necessary investigations specific to each group.

  19. Fitness to Fly Testing in Patients with Congenital Heart and Lung Disease.

    Science.gov (United States)

    Spoorenberg, Mandy E; van den Oord, Marieke H A H; Meeuwsen, Ted; Takken, Tim

    2016-01-01

    During commercial air travel passengers are exposed to a low ambient cabin pressure, comparable to altitudes of 5000 to 8000 ft (1524 to 2438 m). In healthy passengers this causes a fall in partial pressure of oxygen, which results in relative hypoxemia, usually without symptoms. Patients with congenital heart or lung disease may experience more severe hypoxemia during air travel. This systematic review provides an overview of the current literature focusing on whether it is safe for patients with congenital heart or lung disease to fly. The Pubmed database was searched and all studies carried out at an (simulated) altitude of 5000-8000 ft (1524-2438 m) for a short time period (several hours) and related to patients with congenital heart or lung disease were reviewed. Included were 11 studies. These studies examined patients with cystic fibrosis, neonatal (chronic) lung disease and congenital (a)cyanotic heart disease during a hypoxic challenge test, in a hypobaric chamber, during commercial air travel, or in the mountains. Peripheral/arterial saturation, blood gases, lung function, and/or the occurrence of symptoms were listed. Based on the current literature, it can be concluded that air travel is safe for most patients. However, those at risk of hypoxia can benefit from supplemental in-flight oxygen. Therefore, patients with congenital heart and lung disease should be evaluated carefully prior to air travel to select the patients at risk for hypoxia using the current studies and guidelines.

  20. The national neonatal screening programme for congenital toxoplasmosis in Denmark: results from the initial four years, 1999-2002

    DEFF Research Database (Denmark)

    Schmidt, Dorte Remmer; Høgh, Birthe; Andersen, O

    2006-01-01

    AIMS: To describe the outcome of four years' nationwide neonatal screening for congenital toxoplasmosis in liveborn newborns. METHODS: Congenital toxoplasmosis was diagnosed if specific Toxoplasma gondii IgM antibodies were detected in eluate from the PKU Guthrie filter paper card from a child....... Infants diagnosed with congenital toxoplasmosis were examined for intracranial and retinal lesions and treated for three months with sulphadiazine, pyrimethamine, and folinic acid continuously. RESULTS: Eluates from PKU-cards from 262 912 newborns were analysed. The birth prevalence of congenital...... toxoplasma infection was 2.1 per 10 000 liveborns. Congenital toxoplasmosis was suspected in 96 infants and confirmed in 55. Forty seven children were examined for intracranial and retinal lesions soon after birth; 12 had clinical signs at this first examination. Of these, 5 had intracranial calcifications...

  1. Infected Congenital Epicardial Cyst Presenting as Acute Abdomen.

    Science.gov (United States)

    Dribin, Timothy; Files, Matthew D; Rudzinski, Erin R; Kaplan, Ron; Stone, Kimberly P

    2016-12-01

    A previously healthy 3-year-old boy presented to the emergency department with abdominal pain, fever, and emesis. Laboratory and radiologic evaluation for causes of acute abdomen were negative; however, review of the abdominal x-ray demonstrated cardiomegaly with the subsequent diagnosis of pericardial cyst by echocardiogram and computed tomography. The patient underwent surgical decompression and attempted removal of the cystic structure revealing that the cyst originated from the epicardium. His abdominal pain and fever resolved postoperatively and he completed a 3-week course of ceftriaxone for treatment of Propionibacterium acnes infected congenital epicardial cyst. Emergency department physicians must maintain a broad differential in patients with symptoms of acute abdomen to prevent complications from serious cardiac or pulmonary diseases that present with symptoms of referred abdominal pain.

  2. Molecular and Genetic Studies of Congenital Myopathies

    Science.gov (United States)

    2018-03-21

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

  3. Genetics Home Reference: Fukuyama congenital muscular dystrophy

    Science.gov (United States)

    ... with mental retardation Muscular dystrophy, congenital, Fukuyama type Muscular dystrophy, congenital, with central nervous system involvement Polymicrogyria with muscular dystrophy Related Information How ...

  4. Congenital Mucous Retention Cyst of the Anterior Hard Palate! the First Case Report

    OpenAIRE

    Misra, Satya Ranjan; Priyadarshini, Smita; Pati, Abhishek Ranjan; Bhuyan, Sanat Kumar; Panigrahi, Rajat G

    2014-01-01

    Children may be born with birth defects, the most common being oro-facial clefts and fissural cysts. A well circumscribed pedunculated soft tissue growth that occurs congenitally is known as congenital epulis of the newborn or ‘Neuman’s Tumour’ as described in the literature. It is a rare lesion and the diagnosis has to be confirmed histologically. We present a rare case of a 7-year-old child with a congenital growth in the pre-maxillary region of the anterior hard palate clinically diagnosed...

  5. Epidemiological study of congenital heart defects in children and adolescents: analysis of 4,538 cases

    Directory of Open Access Journals (Sweden)

    Nelson Itiro Miyague

    2003-03-01

    Full Text Available OBJECTIVE: To analyze the frequency and prevalence of congenital heart defects in a tertiary care center for children with heart diseases. METHODS: We carried out an epidemiological assessment of the first medical visit of 4,538 children in a pediatric hospital from January 1995 to December 1997. All patients with congenital heart defects had their diagnoses confirmed at least on echocardiography. The frequency and prevalence of the anomalies were computed according to the classification of sequential analysis. Age, weight, and sex were compared between the groups of healthy individuals and those with congenital heart defects after distribution according to the age group. RESULTS: Of all the children assessed, 2,017 (44.4% were diagnosed with congenital heart disease, 201 (4.4% with acquired heart disease, 52 (1.2% with arrhythmias, and 2,268 (50% were healthy children. Congenital heart diseases predominated in neonates and infants, corresponding to 71.5% of the cases. Weight and age were significantly lower in children with congenital heart defects. Ventricular septal defect was the most frequent acyanotic anomaly, and tetralogy of Fallot was the most frequent cyanotic anomaly. CONCLUSION: Children with congenital heart defects are mainly referred during the neonatal period and infancy with impairment in gaining weight. Ventricular septal defect is the most frequent heart defect.

  6. 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.

  7. Congenital Midureteric Stricture

    Directory of Open Access Journals (Sweden)

    Singh Shalinder

    2001-01-01

    Full Text Available Congenital midureteric obstruction is a rare entity which can be caused by either ureteric valves or strictures. We report our experience with four patients with midureteric obstruction due to stricture over a six-year period. The condition needs to be differentiated from obstruction of the pelviureteric and vesicoureteric junctions. Obstruction can be initially screened by ultrasound and confirmed by a radionuclide scan with furosemide challenge. Retrograde ureteropyelography and/or intravenous urography may be required to define the level of the stricture.

  8. 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.

  9. Gene therapy in cystic fibrosis.

    Science.gov (United States)

    Flotte, T R; Laube, B L

    2001-09-01

    Theoretically, cystic fibrosis transmembrane conductance regulator (CFTR) gene replacement during the neonatal period can decrease morbidity and mortality from cystic fibrosis (CF). In vivo gene transfers have been accomplished in CF patients. Choice of vector, mode of delivery to airways, translocation of genetic information, and sufficient expression level of the normalized CFTR gene are issues that currently are being addressed in the field. The advantages and limitations of viral vectors are a function of the parent virus. Viral vectors used in this setting include adenovirus (Ad) and adeno-associated virus (AAV). Initial studies with Ad vectors resulted in a vector that was efficient for gene transfer with dose-limiting inflammatory effects due to the large amount of viral protein delivered. The next generation of Ad vectors, with more viral coding sequence deletions, has a longer duration of activity and elicits a lesser degree of cell-mediated immunity in mice. A more recent generation of Ad vectors has no viral genes remaining. Despite these changes, the problem of humoral immunity remains with Ad vectors. A variety of strategies such as vector systems requiring single, or widely spaced, administrations, pharmacologic immunosuppression at administration, creation of a stealth vector, modification of immunogenic epitopes, or tolerance induction are being considered to circumvent humoral immunity. AAV vectors have been studied in animal and human models. They do not appear to induce inflammatory changes over a wide range of doses. The level of CFTR messenger RNA expression is difficult to ascertain with AAV vectors since the small size of the vector relative to the CFTR gene leaves no space for vector-specific sequences on which to base assays to distinguish endogenous from vector-expressed messenger RNA. In general, AAV vectors appear to be safe and have superior duration profiles. Cationic liposomes are lipid-DNA complexes. These vectors generally have been

  10. Combination of cyst fluid CEA and CA 125 is an accurate diagnostic tool for differentiating mucinous cystic neoplasms from intraductal papillary mucinous neoplasms.

    Science.gov (United States)

    Nagashio, Yoshikuni; Hijioka, Susumu; Mizuno, Nobumasa; Hara, Kazuo; Imaoka, Hiroshi; Bhatia, Vikram; Niwa, Yasumasa; Tajika, Masahiro; Tanaka, Tsutomu; Ishihara, Makoto; Shimizu, Yasuhiro; Hosoda, Waki; Yatabe, Yasushi; Yamao, Kenji

    2014-01-01

    Despite advances in imaging techniques, diagnosis and management of pancreatic cystic lesions still remains challenging. The objective of this study was to determine the utility of cyst fluid analysis (CEA, CA 19-9, CA 125, amylase, and cytology) in categorizing pancreatic cystic lesions, and in differentiating malignant from benign cystic lesions. A retrospective analysis of 68 patients with histologically and clinically confirmed cystic lesions was performed. Cyst fluid was obtained by surgical resection (n = 45) or endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) (n = 23). Cyst fluid tumor markers and amylase were measured and compared between the cyst types. Receiver operating characteristic (ROC) curve analysis of the tumor markers demonstrated that cyst fluid CEA provided the greatest area under ROC curve (AUC) (0.884) for differentiating mucinous versus non-mucinous cystic lesions. When a CEA cutoff value was set at 67.3 ng/ml, the sensitivity, specificity and accuracy for diagnosing mucinous cysts were 89.2%, 77.8%, and 84.4%, respectively. The combination of cyst fluid CEA content >67.3 ng/ml and cyst fluid CA 125 content >10.0 U/ml segregated 77.8% (14/18) of mucinous cystic neoplasms (MCNs) from other cyst subtypes. On the other hand, no fluid marker was useful for differentiating malignant versus benign cystic lesions. Although cytology (accuracy 83.3%) more accurately diagnosed malignant cysts than CEA (accuracy 65.6%), it lacked sensitivity (35.3%). Our results demonstrate that cyst fluid CEA can be a helpful marker in differentiating mucinous from non-mucinous, but not malignant from benign cystic lesions. A combined CEA and CA 125 approach may help segregate MCNs from IPMNs. Copyright © 2014 IAP and EPC. Published by Elsevier B.V. All rights reserved.

  11. Gated magnetic resonance imaging of congenital cardiac malformations

    International Nuclear Information System (INIS)

    Fletcher, B.D.; Jocobstein, M.D.; Nelson, A.D.; Riemenschneider, T.A.; Alfidi, R.J.

    1984-01-01

    Magnetic resonance (MR) images of a variety of cardiac malformations in 19 patients aged 1 week to 33 years were obtained using pulse plethysmographic- or ECG-gated spin echo pulse sequences. Coronal, axial, and sagittal images displaying intracardiac structures with excellent spatial and contrast resolution were acquired during systole or diastole. It is concluded that MR will be a valuable noninvasive method of diagnosing congenital heart disease

  12. A late presenting congenital diaphragmatic hernia misdiagnosed as spontaneous pneumothorax

    Directory of Open Access Journals (Sweden)

    Chitra Sanjeev Juwarkar

    2010-01-01

    Full Text Available Congenital diaphragmatic hernia (CDH is described as (1 failure of diaphragmatic closure at development, (2 presence of herniated abdominal contents into chest and (3 pulmonary hypoplasia. Usually, pleural space is drained urgently when there is respiratory distress and radiological appearance of mediastinal shift. We present a case of a 5-month-old baby, diagnosed as tension pneumothorax and treated with chest drain insertion. CDH was the intraoperative diagnosis.

  13. The radiographic findings of adult congenital megacolon disease

    International Nuclear Information System (INIS)

    Deng Xiaotao; Yu Jingying; Zhang Yongchun

    2000-01-01

    Objective: To describe the radiographic findings of adult megacolon. Methods: Barium enema examination was performed in 6 patients with megacolon proved by operation. Results: The principal radiographic findings were a markedly dilated colon, the largest diameter was 22 cm, and a narrowed rectum, its length was 3-7 cm; with a cone or funnel shaped transitional segment, it is about 2-6 cm long. Conclusion: The barium enema examination is the most reliable and simple method in diagnosing adult congenital megacolon

  14. Congenital unilateral absence of the pulmonary artery in adults

    International Nuclear Information System (INIS)

    Gonzalez Garcia, Mauricio; Escalante Mora, Hector A; Lozano Castillo, Alfonso J

    2000-01-01

    Unilateral absence of a pulmonary artery is a rare anomaly. It occurs with pulmonary ipsilateral hypoplasia and it's frequently associated with other cardiovascular malformations. The majority of the cases are diagnosed in childhood. This is a case report of two adult patients of the Hospital Central de la Policia Nacional in Bogota, Colombia, with unilateral absence of the pulmonary artery one isolated and the other with patent ductus arteriosus. We describe the clinical and roentgenographic findings of this congenital anomaly

  15. Correlation between clinical and histopathological diagnoses in periapical inflammatory lesions.

    Science.gov (United States)

    Diegues, Liliane Lopes; Colombo Robazza, Carlos Roberto; Costa Hanemann, João Adolfo; Costa Pereira, Alessandro Antônio; Silva, Cléverson O

    2011-08-01

      The purpose of the present study was to evaluate the correlation between clinical and histopathological diagnoses of periapical inflammatory lesions, focusing mainly on cystic conditions.   Files dating from 1998 to 2006 at the Oral Pathology Laboratory, School of Dentistry, Alfenas Federal University, Brazil, were reviewed to identify cases with histopathological diagnoses of periapical inflammatory lesions. A total of 1788 files were analyzed, and 255 cases were identified with clinical diagnoses of periapical inflammatory lesions.   The most prevalent clinical diagnosis was apical periodontal cyst (59%), followed by periapical granuloma (20%), and dentoalveolar abscess (2%). After histopathological analysis, 53% of the cases represented apical periodontal cyst, 42% periapical granuloma, and 5% dentoalveolar abscess.   The outcomes of the present study show a high prevalence of periapical cysts among periapical inflammatory lesions. Moreover, this study highlights the importance of histopathological evaluation for the correct diagnosis of periapical inflammatory lesions. © 2011 Blackwell Publishing Asia Pty Ltd.

  16. 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

  17. Congenital Leukemia in Down's syndrome

    International Nuclear Information System (INIS)

    Iqbal, W.; Khan, F.; Muzaffar, M.; Khan, U. A.; Rehman, M. U.; Khan, M. A.; Bari, A.

    2006-01-01

    Congenital Leukemia is a condition and often associated with fatal outcome/sup 1/. Most of the neonatal cases reported have acute non-lymphoblastic leukemia, in contrast to the predominance of acute lymphoblastic leukemia found in later childhood. congenital leukemia is occasionally associated with number of congenital anomalies and with chromosomal disorders such as Down's syndrome. Subtle cytogenetic abnormalities may occur more commonly in the affected infants and their parents, when studied with newer cytogenetic techniques/sup 2/. Inherent unstable hematopoieses resulting from chromosomal aberration in children with Downs's syndrome can present with transient myeloproliferative disorder, mimicking leukemia which undergoes spontaneous recovery/sup 3/. Only few cases of congenital leukemia with Downs syndrome, presented as congenital leukemia. (author)

  18. Cystic Fibrosis-Related Diabetes (CFRD): Daily Management

    Science.gov (United States)

    Cystic Fibrosis-Related Diabetes (CFRD): Daily Management September 20, 2011 This Web cast is supported by an unrestricted ... Moran, MD Professor, Pediatric Endocrinology University of Minnesota Cystic Fibrosis-Related Diabetes (CFRD): Daily Management September 20, 2011 ...

  19. Gastroenterological endpoints in drug trials for cystic fibrosis

    NARCIS (Netherlands)

    Bodewes, Frank A. J. A.; Verkade, Henkjan J.; Wilschanski, Micheal

    2016-01-01

    The phenotype of cystic fibrosis includes a wide variety of clinical and biochemical gastrointestinal presentations. These gastrointestinal characteristics of the disease have come under renewed interest as potential outcome measures and clinical endpoints for therapeutic trials in cystic fibrosis.

  20. Early onset bilateral juvenile myasthenia gravis masquerading as simple congenital ptosis

    Directory of Open Access Journals (Sweden)

    Alam, Md. Shahid

    2017-03-01

    Full Text Available Myasthenia gravis is an autoimmune disorder affecting the neuromuscular junction. Ocular myasthenia gravis presents as ptosis with extraocular motility restriction and is prone to be misdiagnosed as third nerve palsy or congenital or aponeurotic ptosis. Juvenile ocular myasthenia gravis in very young children is difficult to diagnose and can be easily labeled as a case of congenital ptosis, the more so when the condition is bilateral. We present a case of a two-year-old child who presented with bilateral ptosis and was diagnosed as a case of simple congenital ptosis elsewhere with the advice to undergo tarsofrontalis sling surgery. The child was diagnosed with juvenile myasthenia gravis on thorough history, examination, and systemic evaluation and was started on anti-myasthenic treatment.

  1. Intraventricular Hemorrhage in Moderate to Severe Congenital Heart Disease.

    Science.gov (United States)

    Ortinau, Cynthia M; Anadkat, Jagruti S; Smyser, Christopher D; Eghtesady, Pirooz

    2018-01-01

    Determine the prevalence of intraventricular hemorrhage in infants with moderate to severe congenital heart disease, investigate the impact of gestational age, cardiac diagnosis, and cardiac intervention on intraventricular hemorrhage, and compare intraventricular hemorrhage rates in preterm infants with and without congenital heart disease. A single-center retrospective review. A tertiary care children's hospital. All infants admitted to St. Louis Children's Hospital from 2007 to 2012 with moderate to severe congenital heart disease requiring cardiac intervention in the first 90 days of life and all preterm infants without congenital heart disease or congenital anomalies/known genetic diagnoses admitted during the same time period. None. Cranial ultrasound data were reviewed for presence/severity of intraventricular hemorrhage. Head CT and brain MRI data were also reviewed in the congenital heart disease infants. Univariate analyses were undertaken to determine associations with intraventricular hemorrhage, and a final multivariate logistic regression model was performed. There were 339 infants with congenital heart disease who met inclusion criteria and 25.4% were born preterm. Intraventricular hemorrhage was identified on cranial ultrasound in 13.3% of infants, with the majority of intraventricular hemorrhage being low-grade (grade I/II). The incidence increased as gestational age decreased such that intraventricular hemorrhage was present in 8.7% of term infants, 19.2% of late preterm infants, 26.3% of moderately preterm infants, and 53.3% of very preterm infants. There was no difference in intraventricular hemorrhage rates between cardiac diagnoses. Additionally, the rate of intraventricular hemorrhage did not increase after cardiac intervention, with only three infants demonstrating new/worsening high-grade (grade III/IV) intraventricular hemorrhage after surgery. In a multivariate model, only gestational age at birth and African-American race were predictors

  2. Antenatal diagnosis, prevalence and outcome of major congenital anomalies in Saudi Arabia: A hospital based study

    International Nuclear Information System (INIS)

    Sallout, Bahauddin I.; Al-Hoshan, Manal S.; Attyyaa, Rehman A.; Al-Suleimat, Abdelmane A.

    2008-01-01

    The exact antenatal prevalence of congenital anomalies in Saudi society is unknown. Early antenatal diagnosis of congenital anomalies is crucial for early counseling, intervention and possible fetal therapy. The objective of this study was to evaluate the antenatal frequency of major congenital anomalies and malformations patterns in our hospital population and to evaluate the outcome and perinatal mortality rates for major congenital anomalies. This was a prospective study of the antenatal diagnosis of major fetal congenital anomalies conducted in the ultrasound Department of the Women's Specialized Hospital at King Fahd Medical City from for 7762 patients and 5379 babies delivered in our institution. We diagnosed 217 cases of fetal anomalies. The antenatal prevalence of congenital anomalies was 27.96 per 1000. The median maternal age at diagnosis was 27.5 years. Te median gestational age at diagnosis was 31 weeks. Genitourinary and cranial anomalies were the commonest; for 186 patients delivered in our institution, the birth prevalence was 34.57 per 1000 births. The median gestational age at delivery was 38 weeks. The perinatal mortality arte was 34.9% (65/186), including all cases of intrauterine fetal and neonatal deaths. The prevalence of major congenital anomalies in our population appears to be similar to international figures. Major congenital anomalies are a major cause of perinatal mortality. (author)

  3. Congenital nasal pyriform aperture stenosis as a cause of respiratory distress in newborns: presentation diagnosed by menas of CT; Estenosis congenita de la abertura piriforme nasal como causa de distress respiratorio en el recien nacido: aportacion de cuatro casos diagnosticados mediante TC

    Energy Technology Data Exchange (ETDEWEB)

    Wichoff, A.; Perez-Candela, V.; Romera, C.; Lopez-Morales, L. [Hospital Universitario Materno-Infantil de Canarias. Las Palmas de Gran Canarias. (Spain)

    2002-07-01

    Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of newborn airway obstruction. It can be clinically indistinguishable from choanal atresia, which is much more frequent. CT confirms the diagnosis by revealing in detail the anatomical alterations underlying this anomaly. These might or might not occur in association with other alterations. We present 4 cases of CNPAS, all of which presented respiratory distress and clinical symptoms similar to those of choanal atresia in newborn children. The premature diagnosis and a conventional treatment of tube placement in order to keep the airway open, until the pyriform aperture grows large enough to permit normal breathing, resulted in recovery of the patients. (Author) 12 refs.

  4. Actual state of imaging diagnosis in congenital cardiopaties

    International Nuclear Information System (INIS)

    Leon Galindo, Jorge

    2005-01-01

    The congenital cardiac illnesses can be diagnosed through different procedures, such as echocardiography two-dimensional trans-thoracic and trans-esophagus, fetal echocardiogram, heart catheterism, three-dimensional echocardiography, three-dimensional helical on-line tomography or magnetic resonance. Some heart anomalies are of such a complexity that becomes necessary the use of methods complementary diagnoses that they give a bigger space orientation of the structures with three-dimensional character and their relationship with adjacent systems, so the pathology can understand each other and to interpret in an exact way before making a surgical correction. In a same way, when being methods of recent development, it is important to find a balance between the academic development and the readiness of this technology like an alternative in front of the conventional options in the diagnostic phase. The three-dimensional images, with the on-line helical tomography, promises to generate a revolution in the diagnosis of the congenital cardiopatie with the purpose of allowing the obtaining of more and more reliable information and of better quality, so the behaviors to continue are those most guessed right ones. With this initial approach toward these new methods diagnoses in congenital cardiopatie, intend to evaluate the possibilities that at this time are imposed as complementary methods to the current ones

  5. Male fertility in cystic fibrosis.

    LENUS (Irish Health Repository)

    Chotirmall, S H

    2011-04-05

    Infertility rates among males with cystic fibrosis (CF) approximate 97%. No information is currently available within Ireland determining an understanding of fertility issues and the best methods of information provision to this specialized group. This study aimed to determine understanding and preferred approaches to information provision on fertility issues to Irish CF males. A Descriptive Study utilizing prospective coded questionnaires was mailed to a male CF cohort (n=50). Sections included demographics, fertility knowledge & investigation. Response rate was 16\\/50 (32%). All were aware that CF affected their fertility. More than two-thirds (n=11) were able to provide explanations whilst only one-third (n=5) provided the correct explanation. Significant numbers stated thoughts of marriage and a future family. Half have discussed fertility with a healthcare professional (HCP). Mean age of discussion was 21.9 years. One third preferred an earlier discussion. The commonest first source for information was written material which was also the preferred source. Three-quarters requested further information preferring again, written material. Significant gaps in sex education of Irish CF males exist. Discussion should be initiated by HCPs and centre-directed written material devised to address deficiencies.

  6. Intracystic Therapies for Cystic Craniopharyngioma

    Directory of Open Access Journals (Sweden)

    Ute Katharina Bartels

    2012-03-01

    Full Text Available AbstractIntroduction: Craniopharyngioma of childhood are commonly cystic in nature. An intracystic catheter insertion and subsequent instillation of substances inducing cyst shrinkage seems a beneficial strategy avoiding additional morbidity in a highly vulnerable brain location. Methods: A systematic review of the medical literature was performed to identify potentially relevant, all languages articles using Ovid MEDLINE and EMBASE from inception to July 2011 and Cochrane Central Register of Controlled Trials to 3rd quarter 2011. All references were examined for relevancy. Results: Of 142 unique references x referred to substances used for intracystic craniopharyngioma treatment. General aspects of intracystic catheter insertion as well as response rates, risks and outcomes of children treated with intracystic radio-isotopes, bleomycin and interferon are critically reviewed and an outline for potential future endeavours provided. Conclusions: Interferon seems currently the intracystic substance with the best benefit risk ratio. The authors advocate for consensus on prospective data collection and standardized intracystic treatment strategies to allow reliable comparisons and herewith optimize treatment and outcome.

  7. Cystic fibrosis: a clinical view.

    Science.gov (United States)

    Castellani, Carlo; Assael, Baroukh M

    2017-01-01

    Cystic fibrosis (CF), a monogenic disease caused by mutations in the CFTR gene on chromosome 7, is complex and greatly variable in clinical expression. Airways, pancreas, male genital system, intestine, liver, bone, and kidney are involved. The lack of CFTR or its impaired function causes fat malabsorption and chronic pulmonary infections leading to bronchiectasis and progressive lung damage. Previously considered lethal in infancy and childhood, CF has now attained median survivals of 50 years of age, mainly thanks to the early diagnosis through neonatal screening, recognition of mild forms, and an aggressive therapeutic attitude. Classical treatment includes pancreatic enzyme replacement, respiratory physiotherapy, mucolitics, and aggressive antibiotic therapy. A significant proportion of patients with severe symptoms still requires lung or, less frequently, liver transplantation. The great number of mutations and their diverse effects on the CFTR protein account only partially for CF clinical variability, and modifier genes have a role in modulating the clinical expression of the disease. Despite the increasing understanding of CFTR functioning, several aspects of CF need still to be clarified, e.g., the worse outcome in females, the risk of malignancies, the pathophysiology, and best treatment of comorbidities, such as CF-related diabetes or CF-related bone disorder. Research is focusing on new drugs restoring CFTR function, some already available and with good clinical impact, others showing promising preliminary results that need to be confirmed in phase III clinical trials.

  8. 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

  9. Bronchocele density in cystic fibrosis as an indicator of allergic broncho-pulmonary aspergillosis: A preliminary study.

    Science.gov (United States)

    Occelli, Aurélie; Soize, Sébastien; Ranc, Caroline; Giovannini-Chami, Lisa; Bailly, Carole; Leloutre, Béatrice; Boyer, Corinne; Baque-Juston, Marie

    2017-08-01

    Allergic broncho-pulmonary aspergillosis (ABPA) is a severe and under-diagnosed complication of cystic fibrosis (CF). The aim of the study was to determine whether the mucus content of bronchoceles in cystic fibrosis complicated with ABPA reveals a higher density than the mucus content of non-ABPA cystic fibrosis. We studied retrospectively 43 computed tomography scans (CT scans) of a pediatric population of cystic fibrosis patients. We measured the mucus attenuation in Hounsfield Units (HU) of all bronchoceles >5mm in diameter. We found bronchoceles >5mm in 13/43 patients. 5/13 patients had a positive diagnosis of ABPA. The median HU value of bronchoceles was higher in patients with than without ABPA [98 HU (26-135) vs 28 HU (10-36); P=0,02]. Moreover, all patients with a bronchocele density >36HU were ABPA positive. CF complicated with ABPA shows higher attenuation bronchoceles on CT scans of the chest. Systematic density measurements of bronchoceles could help to raise the difficult diagnosis of ABPA in patients suffering from cystic fibrosis. Larger series could confirm a threshold in HU which could become a new imaging criterion for the diagnosis of ABPA. Copyright © 2017 Elsevier B.V. All rights reserved.

  10. Diagnosis of chronic rhino sinusitis in patients with cystic fibrosis: correlation between anamnesis, nasal endoscopy and computed tomography

    International Nuclear Information System (INIS)

    Boari, Leticia; Castro Junior, Ney Penteado de

    2005-01-01

    The sinonasal involvement is one of the most common manifestations in cystic fibrosis. Data show a high incidence of chronic rhino sinusitis in these patients. Although it has been found radiographic opacification of the sinus in more than 90% of cases, few are symptomatic. So that, it is difficult to recognize nasossinusal disease in patients with cystic fibrosis. Questionnaire, nasal endoscopy and CT-scan are very important methods in this approach. Aim: to evaluate the diagnosis of chronic rhino sinusitis in patients with cystic fibrosis by anamnesis, nasal endoscopy and CT-scan and compare those results.Study Design: Clinical prospective. Material and method: evaluation of 34 patients - older than 6 years and with a confirmed diagnoses of cystic fibrosis - by anamnesis (questionnaire), nasal endoscopy (score Lund-Kennedy) and CT-scan (score Lund-Mackay). Results: chronic rhino sinusitis was confirmed in: 20,58% of cases by the questionnaire, 73,52% of the cases by the nasal endoscopy and in 93,54% of the cases by the CT-scan. The results showed significant differences. The correlation between nasal endoscopy score (Lund-Kennedy score) and CT-scan score (Lund-Mackay score) was statistically significant. Conclusion: the diagnosis of chronic rhino sinusitis was statistically different between the three methods. It was higher in imaging analysis and lower in questionnaire. The nasal endoscopy is an excellent method to evaluate nasossinusal disease in cystic fibrosis. (author)

  11. [Postnatal diagnosis of gastric volvulus revealing congenital diaphragmatic hernia].

    Science.gov (United States)

    Aprahamian, A; Nouyrigat, V; Grévent, D; Hervieux, E; Chéron, G

    2017-05-01

    Postnatally diagnosed congenital diaphragmatic hernias (CDH) are rare and have a better prognosis than those diagnosed prenatally. Postnatal symptoms can be respiratory, digestive, or mixed. Gastric volvulus can reveal CDH. Symptoms are pain, abdominal distension, and/or vomiting. Upper gastrointestinal barium X-ray radiography provides the diagnosis. Prognosis is related to early surgical management in complicated forms with intestinal occlusion or sub-occlusion. We report on an infant who presented with vomiting, which revealed gastric volvulus associated with a CDH. Progression was favorable after surgical treatment. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  12. Cystic astrocytomas in children. The contribution of MRI

    International Nuclear Information System (INIS)

    Vilgrain, V.; Sellier, N.; Lalande, G.; Demange, P.; Kalifa, G.

    1988-01-01

    Three cases of cystic astrocytomas are reported in children. Two are supratentorial and one is a cerebellar tumor. The authors insist on the difficulties of the diagnosis. They emphasize the role of NMR which enables distinction between cystic astrocytomas and other cysts. In agreement with Kjos, the 3 cystic astrocytomas demonstrate an increased T1 and T2 and belong to the group of cystic tumors (type II) [fr

  13. Mature cystic teratoma of the pancreas in a child

    International Nuclear Information System (INIS)

    Yu, C.W.; Liu, K.L.; Li, Y.W.; Lin, W.C.

    2003-01-01

    A cystic pancreatic tumour is rare in a child and a mature cystic teratoma of the pancreas is even rarer. This is the first demonstration of the CT appearance of such a tumour in a child. We present a 2-year-old boy who presented with a palpable abdominal mass. Abdominal CT revealed a huge cystic mass in the upper abdomen. Pathology disclosed a mature cystic teratoma originating from the pancreas. (orig.)

  14. Cystic lung disease: a comparison of cystic size, as seen on expiratory and inspiratory HRCT scans

    International Nuclear Information System (INIS)

    Lee, Ki Nam; Yoon, Seong Kuk; Nam, Kyung Jin; Choi, Seok Jin; Goo, Jin Mo

    2000-01-01

    To determine the effects of respiration on the size of lung cysts by comparing inspiratory and expiratory high-resolution CT (HRCT) scans. The authors evaluated the size of cystic lesions, as seen on paired inspiratory and expiratory HRCT scans, in 54 patients with Langerhans cell histiocytosis (n = 3), pulmonary lymphangiomyomatosis (n = 4), confluent centrilobular emphysema (n = 9), paraseptal emphysema and bullae (n = 16), cystic bronchiectasis (n = 13), and honeycombing (n = 9). Using paired inspiratory and expiratory HRCT scans obtained at the corresponding anatomic level, a total of 270 cystic lesions were selected simultaneously on the basis of five lesions per lung disease. Changes in lung cyst size observed during respiration were assessed by two radiologists. In a limited number of cases (n = 11), pathologic specimens were obtained by open lung biopsy or lobectomy. All cystic lesions in patients with Langerhans cell histiocytosis, lymphangiomyomatosis, cystic bronchiectasis, honeycombing, and confluent centrilobular emphysema became smaller on expiration, but in two cases of paraseptal emphysema and bullae there was no change. In cases in which expiratory CT scans indicate that cysts have become smaller, cystic lesions may communicate with the airways. To determine whether, for cysts and cystic lesions, this connection does in fact exist, paired inspiratory and expiratory HRCT scans are necessary

  15. Cystic lung disease: a comparison of cystic size, as seen on expiratory and inspiratory HRCT scans

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Ki Nam; Yoon, Seong Kuk; Nam, Kyung Jin [Donga University College of Medicine, Pusan (Korea, Republic of); Choi, Seok Jin [Inje University College of Medicine, Gimhae (Korea, Republic of); Goo, Jin Mo [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    2000-06-01

    To determine the effects of respiration on the size of lung cysts by comparing inspiratory and expiratory high-resolution CT (HRCT) scans. The authors evaluated the size of cystic lesions, as seen on paired inspiratory and expiratory HRCT scans, in 54 patients with Langerhans cell histiocytosis (n = 3), pulmonary lymphangiomyomatosis (n = 4), confluent centrilobular emphysema (n = 9), paraseptal emphysema and bullae (n = 16), cystic bronchiectasis (n = 13), and honeycombing (n = 9). Using paired inspiratory and expiratory HRCT scans obtained at the corresponding anatomic level, a total of 270 cystic lesions were selected simultaneously on the basis of five lesions per lung disease. Changes in lung cyst size observed during respiration were assessed by two radiologists. In a limited number of cases (n = 11), pathologic specimens were obtained by open lung biopsy or lobectomy. All cystic lesions in patients with Langerhans cell histiocytosis, lymphangiomyomatosis, cystic bronchiectasis, honeycombing, and confluent centrilobular emphysema became smaller on expiration, but in two cases of paraseptal emphysema and bullae there was no change. In cases in which expiratory CT scans indicate that cysts have become smaller, cystic lesions may communicate with the airways. To determine whether, for cysts and cystic lesions, this connection does in fact exist, paired inspiratory and expiratory HRCT scans are necessary.

  16. Ovarian cystic teratoma containing balls of fat. A case report

    International Nuclear Information System (INIS)

    Salinas, A.; Rebolledo, M.; Escribano, M.; Alejo, J. P.; Morenom, J.

    1998-01-01

    We present the case of a ovarian cystic teratoma characterized predominantly by the mobile balls floating in the intra cystic fluid. Ultrasonography demonstrated their marked echo reflectivity and computed tomography revealed that they had the density of fat. We establish a relationship among the ultrasound, computed tomography and histological findings in this uncommon type of ovarian cystic teratoma. (Author) 6 refs

  17. Endocytosis and intracellular protein degradation in cystic fibrosis fibroblasts

    International Nuclear Information System (INIS)

    Jessup, W.; Dean, R.T.

    1983-01-01

    Normal rates of pinocytosis of [ 3 H]sucrose were measured in cystic fibrosis fibroblasts, and were not affected by the addition of cystic fibrosis serum. Bulk protein degradation (a significant proportion of which occurs intralysosomally following autophagy) and its regulation by growth state were apparently identical in normal and cystic fibrosis cultures. (Auth.)

  18. Living with Cystic Fibrosis: A Guide for the Young Adult.

    Science.gov (United States)

    Cystic Fibrosis Foundation, Atlanta, GA.

    Intended for the young adult with cystic fibrosis, the booklet provides information on dealing with problems and on advances in treatment and detection related to the disease. Addressed are the following topics: description of cystic fibrosis; inheritance of cystic fibrosis; early diagnosis; friends, careers, and other matters; treatment;…

  19. Pleuropulmonary blastoma type I following resection of incidentally found congenital lobar emphysema.

    LENUS (Irish Health Repository)

    Walsh, S

    2009-07-01

    Pleuropulmonary blastoma (PPB) is an aggressive tumour accounting for less than 1% of all primary malignant lung tumours in the paediatric population. It can be associated with cystic pulmonary lesions, which may be evident at the time of diagnosis or predate the appearance of the tumour. There are contradictory reports about the value of prophylactic resection of pulmonary cysts in protecting patients from developing PPB. We report an individual case where asymptomatic congenital lobar emphysema was incidentally picked up on CXR. Following a period of surveillance the lesion was resected due to increasing size. The histology of the lesion revealed PPB Type I.

  20. Congenital piriform fossa sinus tract presenting as an asymptomatic neck mass in an infant

    International Nuclear Information System (INIS)

    Bloom, David A.; Adler, Brent H.; Forsythe, Robert C.; Mutabagani, Khaled; Teich, Steven

    2003-01-01

    A 5-month-old girl with an asymptomatic left-sided neck mass was demonstrated by ultrasound and upper gastrointestinal series (UGI), and confirmed at surgery, to have a congenital piriform fossa sinus tract (CPFST) that communicated with an intrathyroidal cyst. To demonstrate a case of CPFST presenting as an asymptomatic neck mass. Nearly all cases of CPFST present with infection or pain, making this case unique. Case report and review of the literature. CPFST with an associated cyst should be added to the differential diagnosis of asymptomatic cystic neck masses in infants, especially if the cyst is intrathyroidal by ultrasound. (orig.)

  1. Fetal chromosome abnormalities and congenital malformations: an ...

    African Journals Online (AJOL)

    The results also showed that Multiple congenital anomalies (MCA) represented among 42.2%, congenital malformation of CNS represents 26.6%, congenital malformation of the skeletal system 20%, congenital polycystic kidney 8.8% and pyloric stenosis in 2.2%. Among the 21 women with abnormal karyotype of amniotic ...

  2. Genetics Home Reference: critical congenital heart disease

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Critical congenital heart disease Critical congenital heart disease Printable PDF Open All Close All ... for Disease Control and Prevention: Congenital Heart Defects Disease InfoSearch: Congenital Heart Defects KidsHealth from Nemours Lucile Packard Children's ...

  3. Different manifestations of calcifying cystic odontogenic tumor

    Directory of Open Access Journals (Sweden)

    Estevam Rubens Utumi

    2012-09-01

    Full Text Available The calcifying cystic odontogenic tumor normally presents as apainless, slow-growing mass, involving both maxilla and mandible,primarily the anterior segment (incisor/canine area. It generallyaffects young adults in the third to fourth decades, with no genderpredilection. Computerized tomography images revealed importantcharacteristics that were not detected by panoramic radiography,such as fenestration, calcification and tooth-like structures. Thetypical microscopic feature of this lesion is the presence of variableamounts of aberrant epithelial cells, without nuclei, which arenamed “ghost cells”. In addition, dysplastic dentine can be foundand occasionally the cyst can be associated with an area of dentalhard tissue formation resembling an odontoma. The treatment forcalcifying cystic odontogenic tumor involves simple enucleationand curettage. The purpose of this article is to present two differentmanifestation of calcifying cystic odontogenic tumor in whichcomputerized tomography, associated to clinical features, servedas an important tool for diagnosis, adequate surgical planning andfollow-up of patients.

  4. Computed tomography of cystic lung lesions

    International Nuclear Information System (INIS)

    Grgic, A.; Heinrich, M.; Girmann, M.; Kramann, B.; Wilkens, H.; Uder, M.

    2004-01-01

    A cystic lesion in the lung is defined as a well-demarcated epithel-lined cavity, that can be mostly filled with air, water, as well as solid material content. This definition includes a wide variety of diseases such as bronchogenic cyst, abscess formation, lymphangioleiomyomatosis, Langerhans cell histiocytosis, emphysema, bronchiectasis, and pneumatoceles. Despite the difficulties in differential diagnosis, there are some diagnostic criteria for CT-scanning helping the radiologist to differentiate between these cystic entities. Moreover, clinical informations are extremely important. The most important clinical parameters include age, sex, clinical history and symptoms. Thus, a better understanding of classic CT appearance of cystic lung disease will allow more definitive diagnosis and could, in some cases, avoid biopsy. (orig.)

  5. Incidence of Congenital Spinal Abnormalities Among Pediatric Patients and Their Association With Scoliosis and Systemic Anomalies.

    Science.gov (United States)

    Passias, Peter G; Poorman, Gregory W; Jalai, Cyrus M; Diebo, Bassel G; Vira, Shaleen; Horn, Samantha R; Baker, Joseph F; Shenoy, Kartik; Hasan, Saqib; Buza, John; Bronson, Wesley; Paul, Justin C; Kaye, Ian; Foster, Norah A; Cassilly, Ryan T; Oren, Jonathan H; Moskovich, Ronald; Line, Breton; Oh, Cheongeun; Bess, Shay; LaFage, Virginie; Errico, Thomas J

    2017-10-09

    Congenital abnormalities when present, according to VACTERL theory, occur nonrandomly with other congenital anomalies. This study estimates the prevalence of congenital spinal anomalies, and their concurrence with other systemic anomalies. A retrospective cohort analysis on Health care Cost and Utilization Project's Kids Inpatient Database (KID), years 2000, 2003, 2006, 2009 was performed. ICD-9 coding identified congenital anomalies of the spine and other body systems. Overall incidence of congenital spinal abnormalities in pediatric patients, and the concurrence of spinal anomaly diagnoses with other organ system anomalies. Frequencies of congenital spine anomalies were estimated using KID hospital-and-year-adjusted weights. Poisson distribution in contingency tables tabulated concurrence of other congenital anomalies, grouped by body system. Of 12,039,432 patients, rates per 100,000 cases were: 9.1 hemivertebra, 4.3 Klippel-Fiel, 56.3 Chiari malformation, 52.6 tethered cord, 83.4 spina bifida, 1.2 absence of vertebra, and 6.2 diastematomyelia. Diastematomyelia had the highest concurrence of other anomalies: 70.1% of diastematomyelia patients had at least one other congenital anomaly. Next, 63.2% of hemivertebra, and 35.2% of Klippel-Fiel patients had concurrent anomalies. Of the other systems deformities cooccuring, cardiac system had the highest concurrent incidence (6.5% overall). In light of VACTERL's definition of a patient being diagnosed with at least 3 VACTERL anomalies, hemivertebra patients had the highest cooccurrence of ≥3 anomalies (31.3%). With detailed analysis of hemivertebra patients, secundum ASD (14.49%), atresia of large intestine (10.2%), renal agenesis (7.43%) frequently cooccured. Congenital abnormalities of the spine are associated with serious systemic anomalies that may have delayed presentations. These patients continue to be at a very high, and maybe higher than previously thought, risk for comorbidities that can cause devastating

  6. Congenital spinal malformations; Kongenitale spinale Malformationen

    Energy Technology Data Exchange (ETDEWEB)

    Ertl-Wagner, B.B.; Reiser, M.F. [Klinikum Grosshadern, Ludwig-Maximilians-Univ. Muenchen (Germany). Inst. fuer Klinische Radiologie

    2001-12-01

    Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.) [German] Kongenitale spinale Malformationen stellen eine komplexe Gruppe an Stoerungen dar, deren Genese sich am einfachsten aus der Embryologie heraus erklaeren laesst. Bei der klinisch-radiologischen Begutachtung ist zunaechst ihre korrekte Klassifikation im Rahmen der Erstdiagnose wichtig. Im weiteren Verlauf ist es jedoch zudem entscheidend, moegliche Komplikationen wie beispielsweise eine Hydromyelie oder ein Wiederanheften des Myelons nach Operation einer Spina bifida aperta zu erkennen. Zudem sollte bei der Diagnosestellung einer kongenitalen spinalen Malformation immer auch auf assoziierte Fehlbildungen, wie z.B. die Diastematomyelie oder das intraspinale Lipom bei der Spina bifida aperta, sowie auf eine moegliche syndromale Einordnung wie beispielsweise beim OEIS-oder VACTERL-Syndrom geachtet werden. (orig.)

  7. Lamb congenital lymphatic malformation - a case report

    Directory of Open Access Journals (Sweden)

    Neria Santos

    2014-01-01

    Full Text Available Lymphatic malformations have been rarely reported in literature either in humans or in animals. However, in recent years, concern about these malformations in humans has increased. A five-month-old Rasa Aragonesa male lamb was received at the Ovine Clinical Service of the Veterinary Faculty of Zaragoza, Spain, with a history of cervical protuberances coming from birth. The lamb showed three round swollen lumps (5–12 cm in diameter parallel to the trachea on the left side of the neck. Clinical examination, haematology, ultrasonography, fluid examination and histopathology were performed. No abnormalities were found in blood samples and ultrasound confirmed a multicystic lesion with internal separations. Histological evaluation of the tissue revealed dilated lymphatic vessels and channels in the dermis and hypodermis; some lymphatic vessels were filled with amorphous proteinaceous material and occasional lymphocytes and macrophages. These protuberances were diagnosed as congenital lymphatic malformations. Most of the gross and microscopical lesions were very similar to those described in humans. To the authors’ knowledge, this is the first time that a congenital lymphatic malformation is described in sheep.

  8. Risk factors predisposing to congenital heart defects

    International Nuclear Information System (INIS)

    Ul Haq, Faheem; Jalil, Fatima; Hashmi, Saman; Jumani, Maliha Iqbal; Imdad, Aamer; Jabeen, Mehnaz; Hashmi, Javad Tauseef; Irfan, Furqan Bin; Imran, Muhammad; Atiq, Mehnaz

    2011-01-01

    Congenital heart disease (CHD) is associated with multiple risk factors, consanguinity may be one such significant factor. The role of consanguinity in the etiology of CHD is supported by inbreeding studies, which demonstrate an autosomal recessive pattern of inheritance of some congenital heart defects. This study was done to find out the risk factors for CHD. A case-control study was done on pediatric patients at a tertiary care hospital, Aga Khan University Hospital, located in Karachi, Pakistan. A total of 500 patients, 250 cases and 250 controls were included in the study. Amongst the 250 cases (i.e. those diagnosed with CHD), 122 patients (48.8%) were born of consanguineous marriages while in the controls (i.e. non-CHD) only 72 patients (28.9%) showed a consanguinity amongst parents. On multivariate analysis, consanguinity emerged as an independent risk factor for CHD; adjusted odds ratio 2.59 (95% C. I. 1.73 - 3.87). Other risk factors included low birth weight, maternal co-morbidities, family history of CHD and first born child. On the other hand, medications used by the mother during the index pregnancy, maternal age and gender of the child did not significantly increase the risk of developing CHD. Analyses of our results show that parental consanguinity, family history of CHD, maternal co-morbidities, first born child and low birth weight are independent risk factors for CHD

  9. FORECASTING OF SURVIVAL OF CHILDREN WITH THE PRENATALLY DIAGNOSED PATHOLOGY OF THE CARDIOVASCULAR SYSTEM

    Directory of Open Access Journals (Sweden)

    Анна Валериевна Дубовая

    2018-05-01

    Full Text Available The development of effective methods for the analysis and prognosis of the survival of newborns with prenatally diagnosed congenital malformations of the cardiovascular system are the urgent task of modern medicine. Objective – a neural network model for predicting the survival of children with prenatally diagnosed congenital malformations of the cardiovascular system was developed. Materials and methods. To create the artificial neural networks, the method of constructing multifactor mathematical prediction models in the software package Statistica 6.0 was used. The significance level of the factors influencing the survival of children with prenatally diagnosed congenital malformations of the cardiovascular system was determined using Wald statistics. When checking statistical hypotheses, the critical level of significance was assumed to be 0,05. Results. A neural network model for the determination of the probability of survival of a child with prenatally diagnosed congenital malformations of the cardiovascular system, which has a high prognostic ability of 0,88, sensitivity of the model was 77,6 %, specificity 86,4 %. The value of prognostic survival probability is in the range from 0 to 100 %. With an indicator value of more than 80 %, the probability of survival of a child with prenatally diagnosed congenital malformations of the cardiovascular system is estimated as high, ranging from 20 % to 80 % – as an average and less than 20 % – as low. Conclusion. In the algorithm for predicting the survival of children with prenatally diagnosed congenital malformations of the cardiovascular system it is necessary to include a combination with other pathology of cardiovascular system, with other organs and systems, with chromosomal abnormalities, with microdeletion and monogenic syndromes.

  10. General Concepts in Adult Congenital Heart Disease.

    Science.gov (United States)

    Mutluer, Ferit Onur; Çeliker, Alpay

    2018-01-20

    Congenital heart disease in adults (adult congenital heart disease) is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 in projections. Adult congenital heart disease is a multifaceted problem with many dimensions. This manuscript aims to provide an overview of the common adult congenital heart diseases and summarize important points in management of these diseases with possible problems and complications that the patients and the physicians face.

  11. General Concepts in Adult Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Ferit Onur Mutluer

    2018-02-01

    Full Text Available Congenital heart disease in adults (adult congenital heart disease is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 in projections. Adult congenital heart disease is a multifaceted problem with many dimensions. This manuscript aims to provide an overview of the common adult congenital heart diseases and summarize important points in management of these diseases with possible problems and complications that the patients and the physicians face

  12. CT evaluation of cystic brain disease

    International Nuclear Information System (INIS)

    Kim, Joon Woo; Lee, Jin Woo; Joo, Yang Goo; Kim, Hong; Zeon, Seok Kil; Suh, Soo Jhi

    1987-01-01

    We retrospectively analysed CT findings of 47 cystic brain lesions of 44 patients, in which operation, biopsy or follow-up study was needed for their final diagnosis. The results were as follows: 1. The etiologic diseases of cystic brain lesions were 15 cases of brain abscess, 9 cases of astrocytoma, 5 cases of glioblastoma multiforme, 3 cases of meningioma, 5 cases of craniopharyngioma, 1 case of hemangioblastoma, 2 cases of dermoid cyst and 4 cases of metastasis. 2. We analyses the cystic lesions in view of their number, location, shape, perifocal edema, mass effect, wall and its thickness, evenness and characteristics of their inner and outer surfaces, mural nodule, calcification and contrast enhancement. a. 13.3% of brain abscess and 75% of metastases were multiple in number, but the remainder showed single lesion. b. The shape of cystic lesions were round or ovoid in 68%, lobulated in 8.5% and irregular in 23.5%, and no demonstrable difference of shape were noticed in different disease. c. In brain abscess, the wall of cystic lesions tend to be thin, even and smooth in inner surface, but the outer surfaces were equally smooth or irregular. d. Mural nodules were found in nearly half of the cases of astrocytoma, glioblastoma multiforme, metastasis and hemangioblastoma, but the brain abscess and dermoid cyst contained no mural nodule. e. Meningiomas were found to be attached to dura mater and showed thickening of the inner table of adjacent skull or of the falx. f. The presence of preceding infectious disease may be helpful in the diagnosis of brain abscess, but in 20% there were no demonstrable preceding infection. g. Lung cancer was confirmed as primary site in two of the cystic metastatic disease, but other 2 cases showed no demonstrable primary malignancy

  13. CT evaluation of cystic brain disease

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Joon Woo; Lee, Jin Woo; Joo, Yang Goo; Kim, Hong; Zeon, Seok Kil; Suh, Soo Jhi [Keimyung University, School of Medicine, Daegu (Korea, Republic of)

    1987-10-15

    We retrospectively analysed CT findings of 47 cystic brain lesions of 44 patients, in which operation, biopsy or follow-up study was needed for their final diagnosis. The results were as follows: 1. The etiologic diseases of cystic brain lesions were 15 cases of brain abscess, 9 cases of astrocytoma, 5 cases of glioblastoma multiforme, 3 cases of meningioma, 5 cases of craniopharyngioma, 1 case of hemangioblastoma, 2 cases of dermoid cyst and 4 cases of metastasis. 2. We analyses the cystic lesions in view of their number, location, shape, perifocal edema, mass effect, wall and its thickness, evenness and characteristics of their inner and outer surfaces, mural nodule, calcification and contrast enhancement. a. 13.3% of brain abscess and 75% of metastases were multiple in number, but the remainder showed single lesion. b. The shape of cystic lesions were round or ovoid in 68%, lobulated in 8.5% and irregular in 23.5%, and no demonstrable difference of shape were noticed in different disease. c. In brain abscess, the wall of cystic lesions tend to be thin, even and smooth in inner surface, but the outer surfaces were equally smooth or irregular. d. Mural nodules were found in nearly half of the cases of astrocytoma, glioblastoma multiforme, metastasis and hemangioblastoma, but the brain abscess and dermoid cyst contained no mural nodule. e. Meningiomas were found to be attached to dura mater and showed thickening of the inner table of adjacent skull or of the falx. f. The presence of preceding infectious disease may be helpful in the diagnosis of brain abscess, but in 20% there were no demonstrable preceding infection. g. Lung cancer was confirmed as primary site in two of the cystic metastatic disease, but other 2 cases showed no demonstrable primary malignancy.

  14. Liver Disease in Cystic Fibrosis: an Update

    Science.gov (United States)

    Parisi, Giuseppe Fabio; Di Dio, Giovanna; Franzonello, Chiara; Gennaro, Alessia; Rotolo, Novella; Lionetti, Elena; Leonardi, Salvatore

    2013-01-01

    Context Cystic fibrosis (CF) is the most widespread autosomal recessive genetic disorder that limits life expectation amongst the Caucasian population. As the median survival has increased related to early multidisciplinary intervention, other manifestations of CF have emergedespecially for the broad spectrum of hepatobiliary involvement. The present study reviews the existing literature on liver disease in cystic fibrosis and describes the key issues for an adequate clinical evaluation and management of patients, with a focus on the pathogenetic, clinical and diagnostic-therapeutic aspects of liver disease in CF. Evidence Acquisition A literature search of electronic databases was undertaken for relevant studies published from 1990 about liver disease in cystic fibrosis. The databases searched were: EMBASE, PubMed and Cochrane Library. Results CF is due to mutations in the gene on chromosome 7 that encodes an amino acidic polypeptide named CFTR (cystic fibrosis transmembrane regulator). The hepatic manifestations include particular changes referring to the basic CFTR defect, iatrogenic lesions or consequences of the multisystem disease. Even though hepatobiliary disease is the most common non-pulmonary cause ofmortalityin CF (the third after pulmonary disease and transplant complications), only about the 33%ofCF patients presents clinically significant hepatobiliary disease. Conclusions Liver disease will have a growing impact on survival and quality of life of cystic fibrosis patients because a longer life expectancy and for this it is important its early recognition and a correct clinical management aimed atdelaying the onset of complications. This review could represent an opportunity to encourage researchers to better investigate genotype-phenotype correlation associated with the development of cystic fibrosis liver disease, especially for non-CFTR genetic polymorphisms, and detect predisposed individuals. Therapeutic trials are needed to find strategies of

  15. Congenital biliary tract malformation resembling biliary cystadenoma in a captive juvenile African lion (Panthera leo).

    Science.gov (United States)

    Caliendo, Valentina; Bull, Andrew C J; Stidworthy, Mark F

    2012-12-01

    A captive 3-mo-old white African lion (Panthera leo) presented with clinical signs of acute pain and a distended abdomen. Despite emergency treatment, the lion died a few hours after presentation. Postmortem examination revealed gross changes in the liver, spleen, and lungs and an anomalous cystic structure in the bile duct. Histologic examination identified severe generalized multifocal to coalescent necrotizing and neutrophilic hepatitis, neutrophilic splenitis, and mild interstitial pneumonia, consistent with bacterial septicemia. The abnormal biliary structures resembled biliary cystadenoma. However, due to the age of the animal, they were presumed to be congenital in origin. Biliary tract anomalies and cystadenomas have been reported previously in adult lions, and this case suggests that at least some of these examples may have a congenital basis. It is unclear whether the lesion was an underlying factor in the development of hepatitis.

  16. Newborn screening for congenital hypothyroidism in a public sector hospital

    International Nuclear Information System (INIS)

    Ghafoor, F.; Mohsin, S.N.; Mukhtar, S.; Hussain, W.

    2013-01-01

    Background: Congenital hypothyroidism if left untreated results in growth failure, irreversible mental retardation, and cretinism. National neonatal screening programs are therefore, launched to diagnose congenital hypothyroidism and manage it timely. Objectives: To screen new borns for congenital hypothyroidism in two public sector hospitals of Lahore. Study type, settings and duration:Cross sectional descriptive study conducted at departments of Gynae/Obs and Pediatric Shaikh Zayed Hospital and Jinnah Hospital, Lahore from February 2010 to November 2011. Subjects and Methods: Awareness brochures for congenital hypothyroidism were developed and attached with the antenatal card of each pregnant case attending antenatal clinic at Gynae/Obs OPD. Newborns who had stayed in hospital for more than 24 hour, and whose parents consented for heal prick were tested for blood spot thyroid-stimulating hormone. Results were reported within four days and thyroid-stimulating hormone >= 20mIU/L was taken as high value. Parents of those neonates who had high value were contacted to give a fresh sample for confirmation. Confirmed results were provided within next 4-5 days to the parents and treating pediatrician for appropriate treatment. Results: A total of 1357 samples were screened using blood spot thyroid-stimulating hormone and out of these 1330 were normal ( =20mIU/L). These 27 neonates were further tested using confirmatory tests For serum thyroid-stimulating hormone, T3 and T4. After confirmatory tests only one case had congenital hypothyroidism who was referred for treatment. Three cases were suspected to have subclinical hypothyroidism and these were retested after six months which, picked another case of confirmed subclinical hypothyroidism who was referred for treatment. The incidence of congenital hypothyroidism was 2 out of 1357 cases. Conclusion: The screening could pick 2 cases of hypothyroidism from a total of 1357 cases which is high when compared to global rates

  17. Spectrum Of Congenital Heart Disease In Full Term Neonates.

    Science.gov (United States)

    Bibi, Saima; Hussain Gilani, Syed Yasir; Bibi, Shawana

    2018-01-01

    Congenital heart disease is a significant problem world over especially in neonates. Early diagnosis and prompt interventions in neonatal period precludes the mortality associated with this disorder. The objective of this study was to highlight the diversity of congenital cardiac defects in our region so that appropriate interventions are devised to minimize significant morbidity and mortality associated with this disorder. This descriptive cross-sectional study was conducted at the Neonatology Unit of Department of Paediatrics, Ayub Teaching Hospital from January 2015 to December 2016. Approval of ethical committee was taken. All fullterm neonates of either gender who presented in department of neonatology including those delivered in hospital or received from other sources (private settings, home deliveries), diagnosed as having congenital heart disease on echocardiography were included in the study. Preterm neonates of either gender were excluded from the study. Patient characteristics were recorded in a designed proforma. Data was entered in SPSS version 20 and analysed. A total of 89 neonates were included in the study. Mean age of presentation was 6.34±7.058 days and range of 1-28 days. There was a male preponderance with 57 (64%) male patients as compared to 32 (36%) female patients. Ventricular septal defect (VSD) was the commonest cardiac lesion being present in 34 (38.2%) patients. Other defects included complex congenital heart disease in 8 (9%), atrial septal defect (ASD) and transposition of great arteries (TGA) in 7 (7.9%) each, atrioventricular septal defect (AVSD) in 6 (6.7%) and Fallots's tetralogy (TOF) and hypoplastic left heart syndrome in 5 (5.6%) each.. Congenital heart disease is a problem of profound importance. It constitutes approximately one third of the total major congenital malformations. There is a diversity of cardiac lesions in our region that warrant early and prompt interventions so that the disease is recognized and treated at

  18. Sonographic-pathologic correlation of complex cystic breast lesions

    Directory of Open Access Journals (Sweden)

    Saravech Pongrattanaman

    2013-02-01

    Full Text Available Objective: To understand the pathologic basis for sonographic features of complex cystic lesions. Methods: From 2 646 female patients underwent breast sonography at King Chulalongkorn Memorial Hospital from January 2005 through December 2010, 103 cystic lesions were included. Pathologic confirmation was performed by fine-needle aspiration (n=42, core needle biopsy (n=6, excision (n=54 and mastectomy (n=1. Complex cystic breast masses were classified into 3 types as followings; thick outer wall and/or thick internal septa (type I; thick septation and thick wall were defined as equal or more than 0.5 cm, masses containing mixed cystic and solid components (at least 50% of cystic component (type II, predominantly solid with eccentric cystic foci (at least 50% of solid component (type III. Results: In 103 complex cystic masses, there are 27 lesions (26% classified as type I cystic breast masses, 37 lesions (36% as type II cystic breast masses and 39 lesions (38% type III cystic breast masses, 26 lesions (25.2% are proved to be malignant. All of type I cystic breast masses in our study are benign, and 14 (38% of type II cystic breast masses and 12 lesions (31% of type III cystic breast lesions are proved to be malignant. Conclusions: Type II and III lesions should suggest possibility of malignancy and biopsy should be performed in all lesions. All type I lesion in this study are benign. None of other parameters we included in this study (size or margin can effectively differentiate between benign or malignant cystic breast lesions. Also, grading of the malignant lesions by using type of cystic breast mass cannot be applied.

  19. Profiles in congenital heart disease

    International Nuclear Information System (INIS)

    Freed, M.D.; Keane, J.F.

    1986-01-01

    Pediatric cardiology has made great strides in the diagnosis, management, and correction of complex congenital malformations in the past two decades. The foundation of these advances is a more precise understanding of the physiology and anatomy of complex lesions that has been obtained from cardiac catheterization and angiography. The techniques for catheterization of infants and children have been discussed in another paper. This chapter focuses on brief profiles of some of the more important congenital abnormalities. The incidence cited in the discussion of each abnormality pertains to a population comprises of children and adults referred to The Children's Hospital Medical Center and Peter Bent Brigham Hospital, respectively, for evaluation of congenital heart disease

  20. Congenital pyriform aperture stenosis

    International Nuclear Information System (INIS)

    Osovsky, Micky; Aizer-Danon, Anat; Horev, Gadi; Sirota, Lea

    2007-01-01

    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.)