Science.gov

Sample records for congenital intrapulmonary bronchogenic

  1. Mediastinal bronchogenic cyst mimicking congenital lobar emphysema.

    PubMed

    Arun, Sumitha; Kumar, Manish; Ross, Benjamin Jeyanth

    2016-09-08

    Bronchogenic cyst (BC) is a rare congenital malformation of the lung. Most patients remain asymptomatic until adulthood while some are symptomatic in the first few years of life. However, symptoms in newborn period are rare. We report a case of a 3-day-old preterm baby with respiratory distress diagnosed as congenital lobar emphysema on chest X-ray. A CT scan revealed a mediastinal cyst causing obstructive lobar emphysema. The cyst was excised and pathological examination was suggestive of BC.

  2. Congenital midline cervical cleft with an underlying bronchogenic like cyst.

    PubMed

    Vure, Srinivas; Pang, Karl; Hallam, Lavinia; Lui, M; Croaker, David

    2009-09-01

    Congenital midline cervical cleft (CMCC) is an uncommon malformation. We report a case of a baby girl aged 3 days with a CMCC associated with a cyst reported as a bronchogenic cyst (BC). The pathology is not specific. The association of BC and CMCC is extremely rare and only five cases have been found in the literature. We report our case and review the relevant literature.

  3. Intrapulmonary bronchogenic cyst and cerebral gas embolism in an aircraft flight passenger.

    PubMed

    Almeida, Francisco Aécio; Desouza, Bryan X; Meyer, Thomas; Gregory, Susan; Greenspon, Lee

    2006-08-01

    Although it is estimated that > 1 billion passengers travel by air worldwide each year, the incidence of in-flight emergencies is low. However, due to nonstandardized reporting requirements for in-flight medical emergencies, the true incidence of pulmonary barotrauma in airplane passengers is unknown. We describe the case of a passenger with an asymptomatic intrapulmonary cyst in whom a severe case of cerebral gas embolism developed during an aircraft flight. The decrease in ambient pressure during the aircraft climb resulted in expansion of the cyst volume based on Boyle's law (pressure x volume = constant). Due to the cyst expansion, we believe tears in the wall led to the leakage of air into the surrounding vessels followed by brain gas emboli. Adult patients with intrapulmonary cysts should be strongly considered for cyst resection or should at least be advised to abstain from activities leading to considerable changes in ambient pressure.

  4. Continuous intrapulmonary distension with perfluorocarbon accelerates lung growth in infants with congenital diaphragmatic hernia: initial experience.

    PubMed

    Fauza, D O; Hirschl, R B; Wilson, J M

    2001-08-01

    The authors have shown previously in an animal model that neonatal lung growth can be accelerated by continuous intrapulmonary distension with a perfluorocarbon (PFC). The authors now describe a preliminary clinical experience with this therapeutic concept in a select group of infants with congenital diaphragmatic hernia (CDH). Neonates with very high predicted mortality rate caused by CDH had their lungs completely filled with PFC while on extracorporeal life support (ECLS); (n = 5). A continuous positive pressure of 7 to 10 cm H2O was maintained via the endotracheal tube for 3 to 7 days (mean, 5.6 +/- 0.87 days). The areas of both lungs (L) then were measured daily from digitized chest x-rays and divided by the area of the corresponding L1 vertebrae (V), to create an L/V index, so as to control for variable roentgenographic techniques. Immediately after removal of PFC, blood gas data were collected off ECLS. At the end of continuous pulmonary distension, all patients showed improvements in oxygenation and ventilation. The ipsilateral lungs showed significant increase of the L/V index with time (P =.003) and of L/V's daily change (P <.0001), suggesting accelerated lung growth. Overall survival rate was 40% (2 of 5). Of the 3 patients that had 7 days of distension, 2 survived. Continuous intrapulmonary distension with PFC for up to 1 week accelerated ipsilateral lung growth, improved gas exchange, and increased survival of CDH infants with profound pulmonary hypoplasia marooned on ECLS. Additional trials of PFC-based pulmonary distension in similar infants are warranted. Copyright 2001 by W.B. Saunders Company.

  5. Infected mediastinal bronchogenic cyst in a 12 year old girl.

    PubMed

    Schweigert, M; Wolf, F; Stadlhuber, R J; Ficker, J H; Stein, H J

    2012-04-01

    Bronchogenic cysts are an uncommon congenital malformation deriving from the primitive foregut. They are mainly unilocular, and respiratory distress is the most common presentation in pediatric patients. We describe the case of a 12-year-old girl with a huge infected mediastinal bronchogenic cyst which was resected via an axillary muscle-sparing thoracotomy. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  6. [Bronchogenic cysts of the mediastinum in childhood].

    PubMed

    Mikhaĭlova, V; Drebov, R

    1993-01-01

    Bronchogenic cysts are rare congenital anomalies result of abnormal development of the tracheobronchial tree. They develop in the lung parenchyma or in the mediastinum. For a period of 17 years (1975-1991) a total of 46 children with bronchogenic cysts have been treated; in 6 the cysts were localized in the mediastinum. Two patients were one-year-old, 3 were in the age group 1 to 3 years and 1 was older than 3 years. Four patients were boys and 2 girls. Two children had hacking cough and attacks of dyspnea; one had swallowing difficulties. In 3 children the disease produced no symptoms and was detected on examination for pneumonia (1 child) and acute upper respiratory tract infection (2 children). All children had conventional X-ray; 5 had esophagography as well, 4--computer axial tomography, 3--echography. All children were operated (total extirpation of the cyst) and left the hospital cured.

  7. Left ventricular bronchogenic cyst.

    PubMed

    Wei, Xiang; Omo, Alfred; Pan, Tiecheng; Li, Jun; Liu, Ligang; Hu, Min

    2006-04-01

    Bronchogenic cysts occurring in the left ventricle are a medical rarity. One successfully operated case is reported herein. The location of the cyst was just between the epicardium and myocardium of the inferior left ventricular wall, adjacent to the apex of the heart. Complete excision was achieved through a left anterolateral thoracotomy without extracorporeal circulation.

  8. [Bronchogenic cysts. Importance of infection in adults. Study of 12 cases].

    PubMed

    Hernández-Solís, Alejandro; Cruz-Ortiz, Humberto; Gutiérrez-Díaz Ceballos, María Esther; Cicero-Sabido, Raúl

    2015-01-01

    Bronchogenic cyst is a rare congenital malformation and commonly located in the mediastinum and lung parenchyma. To determine the clinical characteristics of the patients with diagnosis of bronchogenic cysts, their location and the infectious bacteria when the cysts are infected. The cases were collected from 1 January 2005 to 1 January 2013, in a third level hospital. The cases with bronchogenic cysts resected by thoracotomy were confirmed by histological study. Age, sex, admission diagnosis, location, size, imagenologic studies, and bacteriological cultures were evaluated. Of the 12 cases with diagnosis of bronchogenic cysts surgically resected by thoracotomy, six were male and six female, with 50% located in lung parenchyma and 50% in mediastinum, one of the latter was para-oesophageal. Bacteriological study of the cystic content demonstrated bacterial infection in seven (58%) cases. Bronchogenic cysts are rare congenital benign lesions. They must be resected because their content might be infected. The histopathology study is necessary to confirm the diagnosis, together with bacteriological examination. Thoracotomy is a safe procedure to resect bronchogenic cysts. Copyright © 2015 Academia Mexicana de Cirugía A.C. Published by Masson Doyma México S.A. All rights reserved.

  9. Bronchogenic cyst in a patient with difficult asthma.

    PubMed

    Ben Razavi, Soheil; Bemanian, Mohammad Hassan; Taghipoor, Shokooh; Moghadam, Reza Nafisi; Behnamfar, Zahra

    2010-03-01

    Difficult to treat asthma is an asthma syndrome that brings in our mind other differentials. Mediastinal masses are not common findings, but are important variables. Bronchogenic cyst is a congenital anomaly of the foregut that is typically found in the mediastinum and diagnosed accidentally. We present a 4-year-old girl with allergic asthma that began at 8-months of age and finally a bronchogenic cyst was detected in this patient. The patient had history of asthma since she was eight months old. She had a history of several asthma attacks which had partly responded to asthma management. During the last episodes of asthma attacks, she was hospitalized in Pediatric Intensive Care Unit. Imaging studies showed a 4x3 cm mass in the posterior part of the thoracic cavity that had led to tracheal narrowing was found for which the patient underwent thoracotomy and in surgical exploration a cyst that had compressed the thoracic trachea. Pathological examination of the cyst revealed a bronchogenic cyst. Bronchogenic cyst is an uncommon developmental abnormality but in a patient with obstructive pattern of airways it should be considered in differential diagnosis of asthma, especially if the asthma management is not successful.

  10. Presternal subcutaneous bronchogenic cyst in adolescence

    PubMed Central

    Moon, Sung Mo; Lee, Sang Min; Kang, Haeyoun; Choi, Hye Jeong

    2017-01-01

    Abstract Subcutaneous bronchogenic cysts have been described rarely, particularly among adolescents. Only a few reports have described the ultrasonographic features of bronchogenic cysts, characterizing them as nonspecific cystic masses with or without internal echogenic foci or debris. Therefore, it is hard to differentiate subcutaneous bronchogenic cysts from other subcutaneous cystic tumors ultrasonographically. We report a case of presternal subcutaneous bronchogenic cyst in an 18-year-old man with unusual ultrasonographic findings. Ultrasonography revealed a small, oval, cystic mass containing a well-circumscribed, heterogeneously hypoechoic, egg-shaped lesion in the dependent portion of the mass within the subcutaneous fat layer overlying the sternum. Surgical excision was performed, and the cystic mass was diagnosed as a bronchogenic cyst. On pathological examination, the internal, heterogeneously hypoechoic, ball-like lesion was found to be mucous material within the cyst. To our knowledge, this is the first reported case of a presternal subcutaneous bronchogenic cyst presenting with a ball-like lesion inside of the cyst. This unusual ultrasonographic feature can be a clue to the diagnosis of subcutaneous bronchogenic cyst. In conclusion, if an anechoic cyst containing an internal, well-circumscribed, hypoechoic ball-like lesion is seen in the presternal subcutaneous fat layer, subcutaneous bronchogenic cyst should be considered in the differential diagnosis of subcutaneous cystic masses. PMID:28151916

  11. Giant bronchogenic cyst with pericardial defect: a case report & literature review in Japan

    PubMed Central

    Kamata, Toshiko; Iwata, Takekazu; Nakatani, Yukio; Yoshino, Ichiro

    2016-01-01

    Congenital pericardial defects are a rare anomaly, found during autopsy and cardiothoracic surgery. We describe a case of a 69-year-old female, with a right-sided congenital pericardial defect associated with a giant bronchogenic cyst (BC) found during surgery. The cyst was resected and the patient developed arrhythmia following surgery. A review of the literature in Japan was performed, focusing on congenital anomalies associated with pericardial defects and its pathogenesis. We paid particular attention to complications following thoracic surgery in patients with pericardial defects and indications of pericardial reconstruction in such patients. PMID:27621900

  12. Pulmonary congenital cystic disease in adults. Spiral computed tomography findings with pathologic correlation and management.

    PubMed

    Scialpi, M; Cappabianca, S; Rotondo, A; Scalera, G B; Barberini, F; Cagini, L; Donato, S; Brunese, L; Piscioli, I; Lupattelli, L

    2010-06-01

    The aim of this study was to assess the computed tomography (CT) features of intrapulmonary congenital cystic diseases in adults and to correlate the imaging features with the pathological findings, with emphasis on the oncogenic potential of the lesions. We retrospectively reviewed the CT scans in three institutions from August 1996 to December 2008, of nine patients (six men, three women; mean age 48.6 years; range 26-75 years) who had histological diagnosis of pulmonary cystic disease after surgery. Six patients had a diagnosis of intrapulmonary bronchogenic cyst (IBC), and three had a type-I cystic adenomatoid malformation (CAM). In one case, intralobar sequestration (ILS) was associated with type-I CAM. Three patients were symptomatic and six were asymptomatic. On CT scans, IBCs showed homogeneous fluid attenuation (n=2), air-fluid level (n=2), air attenuation (n=1) or soft-tissue attenuation (n=1). The surrounding lung tissue showed areas of band-like linear attenuation in three IBCs, atelectasia in two and mucocele-like areas in one. On CT, type-I CAM appeared as a unilocular cystic lesion with air-fluid level (n=1) or air content (n=1). Both cases had thin walls surrounded by normal lung parenchyma. ILS appeared as a fluid-filled cyst with afferent and efferent vessels. Of the six IBCs, one occurred in the upper right lobe, two in the middle lobe and three in the lower right lobe. Of the three type-I CAMs, one was in the upper left lobe and one in the middle lobe. The type-I CAM associated with ILS was located in the left lower lobe. The similar CT patterns preclude differentiation between IBC and type-I CAM. Surgical resection of all intrapulmonary cystic lesions detected in adults is mandatory because type-I CAM is a precursor of mucinous bronchioloalveolar carcinoma.

  13. Retroperitoneal bronchogenic cyst mimicking hydatid liver: a case report.

    PubMed

    Parray, Fazl Q; Sherwani, Afak Yusuf; Dangroo, Sajad Ahmad; Bisati, Rafia Aziz; Malik, Nighat Shaffi

    2012-01-01

    Bronchogenic cysts frequently occur in the mediastinum. They may be rarely encountered in the abdomen and retroperitoneum. Bronchogenic cysts can in fact mimic hydatid cysts. We report a case of retroperitoneal bronchogenic cyst below the right hemidiaphragm mimicking a hydatid cyst of the liver in a 30-year-old female.

  14. Retroperitoneal Bronchogenic Cyst Mimicking Hydatid Liver: A Case Report

    PubMed Central

    Parray, Fazl Q.; Sherwani, Afak Yusuf; Dangroo, Sajad Ahmad; Bisati, Rafia Aziz; Malik, Nighat Shaffi

    2012-01-01

    Bronchogenic cysts frequently occur in the mediastinum. They may be rarely encountered in the abdomen and retroperitoneum. Bronchogenic cysts can in fact mimic hydatid cysts. We report a case of retroperitoneal bronchogenic cyst below the right hemidiaphragm mimicking a hydatid cyst of the liver in a 30-year-old female. PMID:22606600

  15. Fibrosing mediastinitis mimicking bronchogenic carcinoma

    PubMed Central

    Bayiz, Hulya; Mutluay, Neslihan; Koyuncu, Adem; Demirag, Funda; Dagli, Gulfidan; Berktas, Bahadir; Berkoglu, Mine

    2013-01-01

    Fibrosing mediastinitis is a rare but benign disorder characterized by an excessive fibrotic reaction in the mediastinum which can result in compromise of airways, great vessels, and other mediastinal structures. In this paper we presented a patient with fibrosing mediastinitis mimicking bronchogenic carcinoma. The patient was a 32-year-old diabetic male admitting with cough and hemoptysis. There was a right hilar mass and multiple mediastinal conglomerated lymph nodes on chest computed tomography. Positron emission tomography with computed tomography (PET/CT) scan demonstrated increased fluorodeoxyglucose (FDG) uptake at the right hilar mass lesion and mediastinal lymph nodes. Fiberoptic bronchoscopy showed mucosal distortion of right upper lobe. Pathologic examination of the mucosal biopsy revealed inflammation. Endobronchial ultrasound guided transbronchial needle and cervical mediastinoscopic lymph node biopsies were undiagnostic. Diagnostic thoracotomy confirmed the diagnosis fibrosing mediastinitis. Administration of six months of systemic corticosteroid and antituberculous therapy was not beneficial. In conclusion, despite being a rare clinical entity, fibrosing mediastinitis should be kept in mind in the differential diagnosis of mediastinal mass lesions of unknown etiology. The diagnosis is exceptionally difficult in the presence of atypical radiological findings. The treatment is particularly challenging without any proven effective therapy. PMID:23372962

  16. Bronchogenic cysts with high CT numbers

    SciTech Connect

    Mendelson, D.S.; Rose, J.S.; Efremidis, S.C.; Kirschner, P.A.; Cohen, B.A.

    1983-03-01

    Four patients with mediastinal masses are described. CT examinations demonstrated masses of high attenuation, and solid masses were suspected. At thoracotomy each patient had a cystic mass containing a brownish, turbid, mucoid material. The pathologic diagnosis in each case was a bronchogenic cyst. The possibility of such a cyst should not be excluded because of a high CT number, which reflects the turbid contents of the cyst.

  17. Bronchogenic cyst of the conus medullaris with spinal cord tethering: a case report and review of the literature

    PubMed Central

    Zou, Ming-Xiang; Hu, Jia-Rui; Kang, Yi-Jun; Li, Jing; Lv, Guo-Hua; She, Xiao-Ling

    2015-01-01

    Bronchogenic cysts (BCs) are congenital malformations that originate from remnants of the primitive foregut. Intraspinal BCs, especially those of the conus medullaris are rare with only one case reported until now. To date, a bronchogenic cyst with spinal cord tethering has not been previously reported. We reviewed the clinical course of a 44-year-old woman, who presented with low back pain and leg weaknesss as well as sphincter disturbance. Magnetic resonance imaging showed an intradural oval mass located at the conus medullaris. A tethered cord was also observed, as well as a dermal sinus tract. The mass was totally removed after an L3-L4 laminectomy without detethering during operation. Pathologic examination confirmed the diagnosis of bronchogenic cyst. By six months after treatment, the patient had experienced nearly complete recovery. The review of literature indicated that detethering was performed in most reported cases of neurenteric cysts with spinal cord tethering, and one of six patients was diagnosed with a postoperative recurrence. The co-existence of bronchogenic cyst and a tethered spinal cord would imply associated developmental errors in embryogenesis. It is worth noting that whether detethering is necessary after the cyst removal. PMID:26097578

  18. Gastric bronchogenic cyst presenting as a gastrointestinal stromal tumor

    PubMed Central

    Sun, Longhao; Lu, Li; Fu, Weihua; Li, Weidong; Liu, Tong

    2015-01-01

    Bronchogenic cyst (BC) is congenital abnormality of the tracheobronchial bud derived from the primitive foregut which is predominantly found in the mediastinum. Surgery remains the most common treatment when malignancy is suspected, or when there are presenting. Only infrequently, is BC located at an extrathoracic site. Although rarely located in the stomach, BC should be considered as a differential diagnosis of gastric neoplasm. For these cases, surgery remains a common choice. Minimally invasive procedures such as endoscopic ultrasonography-guided fine needle biopsy aspiration (EUS-FNA) and endoscopic submucosal dissection (ESD) should also be considered when the diagnosis of BC is suspected. They are valuable diagnostic methods that can assess and identify the location of the lesion, and facilitate histological examination of the cyst. In some cases of more superficial lesions ESD can take the place of surgery as it avoids unnecessary complications of a more invasive procedure. Here we present a case of gastric BC located in the fundus of the stomach that resembled a gastrointestinal stromal tumor (GIST). We discuss its embryology, pathogenesis, radiological, clinical and treatment modalities. We also provide a thorough review of 14 cases (including our own case), which completely meet pathological criteria has been undertaken focusing on symptom, location, treatment, and histological features. PMID:26722583

  19. Scapular Bronchogenic Cyst: A Case Report and Literature Review

    PubMed Central

    Al-Balushi, Zainab; Ehsan, Mohammad T.; Al Sajee, Dhuha; Al Riyami, Marwa

    2012-01-01

    Bronchogenic cysts originate from abnormal budding of the tracheal diverticula during the embryological period. Inaccuracy in the process of growing of the ventral foregut will give rise to bronchogenic cyst. Scapular bronchogenic cyst is an extremely rare form of this anomaly. A three years old boy suffered for 2 years with left sided suprascapular cystic lesion which was gradually increasing in size. The swelling was 4 × 3 cm in size and non tender. The cyst was evaluated by CT scan that showed complex cystic lesion over the left scapular spine. Total excision of the cyst was done and histopathology showed cutaneous bronchogenic cyst. The proposed mechanism for such cutaneous lesion is that the accessory buds from the tracheobronchial tree/primitive foregut migrated from the thorax in an aberrant manner to lie in periscapular positions. The definitive treatment of scapular lesions is total surgical excision. The final diagnosis is based on the histopathological findings in the majority of cases. PMID:22496944

  20. Isolated adrenal masses in nonsmall-cell bronchogenic carcinoma

    SciTech Connect

    Oliver, T.W. Jr.; Bernardino, M.E.; Miller, J.I.; Mansour, K.; Greene, D.; Davis, W.A.

    1984-10-01

    Computed tomography has become an important diagnostic modality in the preoperative staging of patients with bronchogenic carcinoma. The adrenal glands represent one of the most frequent sites of metastasis. Therefore, an isolated adrenal mass discovered on preoperative thoracoabdominal CT poses a diagnostic problem. Three hundred thirty patients with histologically proved nonsmall-cell bronchogenic carcinoma were evaluated. Thirty-two had adrenal masses without further evidence of disease in the abdomen, Eight of these 32 masses were metastases, 17 were proved adenomas, and 7 did not undergo biopsy. Thus an isolated adrenal mass is more likely benign than metastatic, and biopsy is advocated prior to withholding potentially curative surgery.

  1. Dual lumbar bronchogenic and arachnoid cyst presenting with sciatica and left foot drop.

    PubMed

    Candy, Nicholas; Young, Adam; Devadass, Abel; Dean, Andrew; McMillen, Jason; Trivedi, Rikin

    2017-07-31

    Spinal bronchogenic cysts are rare findings, with only four cases of lumbar bronchogenic cysts reported in the literature. All of these bronchogenic cysts involved the conus medullaris. We present the first case of a lumbar bronchogenic cyst and arachnoid cyst arising from the cauda equina in a 68-year-old male. Uniquely, this bronchogenic cyst also contained components of an arachnoid cyst. Magnetic resonance imaging (MRI) demonstrated a compressive cystic lesion at the level of the L3 vertebra splaying the cauda equina. An L3/L4 laminectomy was performed with marsupialisation of the cyst. Histological examination revealed pseudostratified ciliated columnar epithelium confirming the diagnosis of a bronchogenic cyst, as well as a pleated fibrovascular tissue lined by sparsely spaced small monomorphic arachnoidal cells, indicating an arachnoid cyst. We demonstrate that bronchogenic cysts can be successfully treated with marsupialisation.

  2. Gastric bronchogenic cysts: A case report and literature review

    PubMed Central

    TU, CHAOYONG; ZHU, JINGDE; SHAO, CHUXIAO; MAO, WEIBO; ZHOU, XINGMU; LIN, QIAOMEI; LI, ZHUKAI; ZHANG, JIE; ZHOU, QINGYUE; CHEN, WEI

    2016-01-01

    Gastric bronchogenic cysts are rare lesions, first described in 1956, with only 34 cases reported in the literature to date. The present study described a case of bronchogenic cyst of the stomach in a 17-year-old female who presented with periodic epigastric pain. In addition, the study analyzed the existing literature on these lesions. Gastric bronchogenic cysts are more common in females (female:male ratio, 21:14) and the median age of their development is 43 years. In total, 48.57% of the 34 previously reported cases were identified incidentally, and the remainder presented mainly with epigastric pain. Cyst sizes varied between 1.7 and 15 cm. In 3 cases, preoperative diagnosis was performed using needle biopsy, whereas several studies were initially misdiagnosed as stromal tumors. In 85% of the cases (31/35), cyst resection was performed, with laparoscopy used in 4 of the cases. The findings of the present study and literature review suggested that bronchogenic cysts of the stomach are rare, and surgical resection is warranted to treat symptoms and prevent malignant transformation. PMID:27073434

  3. Radionuclide demonstration of intrapulmonary shunting in cirrhosis

    SciTech Connect

    Bank, E.R.; Thrall, J.H.; Dantzker, D.R.

    1983-05-01

    The association of hepatic cirrhosis and severe arterial hypoxemia has been well described. Although alterations in ventilatory function may partially account for the hypoxemia, the principal mechanism is thought to be a microangiopathic change in the pulmonary vasculature resulting in intrapulmonary arteriovenous shunting with resultant systemic desaturation. Whole-body radionuclide scans with technetium-99m macroaggregated albumin labeling have been diagnostic of right-to-left shunting by their demonstration of tracer accumulation within the extrapulmonary circulation. A case of severe pulmonary arteriovenous shunting in an alcoholic patient in whom hepatic disease had not been of apparent clinical significance before radionuclide scanning is reported. He did not have cuntaeous angiomata as have all other patients with alcoholic cirrhosis and hypoxemia.

  4. CT guided transthoracic catheter drainage of intrapulmonary abscess.

    PubMed

    Yunus, Mahira

    2009-10-01

    To determine the efficacy of CT- guided transthoracic catheter drainage of intrapulmonary abscess considering success rate versus complications. This prospective study was carried out at radiology department of Al-Noor Specialist Hospital, Makkah, Saudi Arabia, from 1.1.2003 to 31.12.2005. Nineteen patients were selected for CT guided percutaneous drainage. Under CT guidance catheter placement was carried out using Seldinger technique. Nineteen patients with lung abscess were selected for the percutaneous CT guided drainage. Eight (42.105%) patients encountered no complications and lung abscess completely resolved with no residual cavity. Five (26.31%) patients developed pneumothorax, which was the most common complication of this study. These patients were kept under observation and followed-up by chest X-rays. Three (15.78%) had mild pneumothorax, which resolved and needed no further management, while two (10.52%) patients developed moderate pneumothorax and chest tube was inserted. Two (10.52%) patients developed mild haemoptysis which resolved within two hours, hence, no further management was required. Two (10.52%) patients had residual cavity and surgery was performed. Congenital cystic adenomatoid malformation (CCAM) was found in both cases. Two patients out of nineteen patients (10.52%) developed bronchopleural fistula and were operated. No mortality occurred during or after the procedure. CT allows optimal placement of catheter and hence enables safe and effective percutaneous evacuation of lung abscess. The morbidity and mortality of patients with percutaneous catheter drainage is lower than with surgical resection. Hence, CT guided drainage should be considered the first therapeutic choice in most patients of lung abscess who do not respond to medical therapy.

  5. Cerebral air embolism caused by a bronchogenic cyst.

    PubMed

    Jung, Simon; Wiest, Roland; Frigerio, Susanna; Mattle, Heinrich P; Hess, Christian W

    2010-06-01

    An unusual case is presented of a tourist who developed fatal cerebral air embolism, pneumomediastinum and pneumopericardium while ascending from low altitude to Europe's highest railway station. Presumably the air embolism originated from rupture of the unsuspected bronchogenic cyst as a result of pressure changes during the ascent. Cerebral air embolism has been observed during surgery, in scuba diving accidents, submarine escapes and less frequently during exposure to very high altitude. People with known bronchogenic cysts should be informed about the risk of cerebral air embolism and surgical removal should be considered. Cerebral air embolism is a rare cause of coma and stroke in all activities with rapid air pressure changes, including alpine tourism, as our unfortunate tourist illustrates.

  6. Inspiratory flow and intrapulmonary gas distribution

    SciTech Connect

    Rehder, K.; Knopp, T.J.; Brusasco, V.; Didier, E.P.

    1981-01-01

    The effect of flow of inspired gas on intrapulmonary gas distribution was examined by analysis of regional pulmonary /sup 133/Xe clearances and of total pulmonary /sup 133/Xe clearance measured at the mouth after equilibration of the lungs with /sup 133/Xe. Five awake healthy volunteers (24 to 40 yr of age) and another 5 healthy, anesthetized-paralyzed volunteers (26 to 28 yr of age) were studied while they were in the right lateral decubitus position. The awake subjects were studied at 3 inspiratory flows (0.4, 0.7, and 1.0 L/s) and the anesthetized-paralyzed subjects at 4 inspiratory flows (0.2, 0.5, 1.1, and 1.6 L/s). Interregional differences in /sup 133/Xe clearances along the vertical axis were significantly less during anesthesia-paralysis and mechanical ventilation than during spontaneous breathing in the awake state. No differences in the regional or total pulmonary /sup 133/Xe clearances were detected at these different flows in either of the two states, i.e., the difference between the awake and anesthetized-paralyzed states persisted.

  7. Intrapulmonary perfluorooctyl bromide instillation in fetal rabbits.

    PubMed

    Muensterer, Oliver J; Klis, Verena J; Till, Holger; Bergmann, Florian; Metzger, Roman; Simbruner, Georg

    2005-07-01

    Instilling perfluorooctyl bromide (PFOB) into the fetal lung may lead to alveolar distension. The aim of the study was to evaluate the safety of PFOB instillation into fetal lungs and to determine the radiographic distribution and tissue concentration of PFOB in New Zealand white rabbits. Sibling fetuses of pregnant (day 27) New Zealand white rabbits were randomized to intratracheal instillation of 1 mL PFOB with tracheal ligation, instillation without ligation, and unmanipulated controls. The maternal animals were killed directly after instillation, at 3 or 6 hours (n = 10 each). For each study cohort, we determined fetal lung/body weight (FLBW) ratios, the radiographic distribution of PFOB, as well as pulmonary PFOB and water content by tissue distillation. PFOB concentrations in maternal and fetal tissues were assessed by gas chromatography. The relative amount of fetal lung PFOB recovered by fractional distillation was highest in ligated (25%) and lower in unligated lungs (9%). Extrapulmonary PFOB was found in the fetal brain (2.0 +/- 0.7 ppm), but not in any other fetal or maternal tissues. Mean FLBW ratios were highest in ligated fetuses, followed by unligated fetuses and controls. PFOB partially displaced fetal lung water. PFOB was visible in the lungs of all treated fetuses. Fetal survival between manipulated and unmanipulated fetuses did not differ. After prenatal intrapulmonary instillation, some PFOB remains in the lung, even if the trachea is not ligated, and may exert distending pressure on the alveoli.

  8. [Neck bronchogenic cyst. Case report and review of the literature].

    PubMed

    Nolasco-de la Rosa, Ana Lilia; Nuñez-Trenado, Luis Alberto; Román-Guzmán, Edgardo; Chávez-Villicaña, Christian Ezequiel

    2016-01-01

    Bronchogenic cyst is a malformation of the ventral portion of the intestine, which is limited by bronchial epithelium and produces alterations in the development of the tracheobronchial tree. They may be single or multiple, and are usually confined to one lung or to the mediastinum, rarely to the neck, which is a subcutaneous tissue. The case of a 9 year old girl is reported, who presented with a clinical picture characterized by a slow-growing, asymptomatic tumour on the left side of the neck of 4 years onset. Chest X-ray, neck ultrasound and computed tomography of the neck and chest ruled out any other injury. A complete resection was performed, and the histopathological study confirmed the diagnosis of bronchogenic cyst. The symptomatology of a bronchogenic cyst is due to the compression of the vascular, digestive or air structures, as well as its size, infection and location. The treatment of choice is a surgical resection, even when asymptomatic. Copyright © 2015 Academia Mexicana de Cirugía A.C. Published by Masson Doyma México S.A. All rights reserved.

  9. Intrapulmonary unicentric Castleman disease mimicking peripheral pulmonary malignancy

    PubMed Central

    Liu, Yi; Chen, Gang; Qiu, Xiaoming; Xu, Song; Wu, Yi; Liu, Renwang; Zhou, Qinghua; Chen, Jun

    2014-01-01

    Castleman disease, also known as angiofollicular lymph node hyperplasia, can manifest as a unicentric or multicentric disorder. Intrapulmonary Castleman disease is very rare. Here, we present a patient with intrapulmonary Castleman disease who underwent left upper pulmonary lobectomy for suspected early lung cancer. The histopathologic diagnosis of the lobar mass was hyaline-type Castleman disease. The patient has remained well after surgery, showing no local recurrence or distant disease during a two-year follow-up period. Although unicentric Castleman disease originating in the lung is rare, it should be considered in the differential diagnosis of primary pulmonary malignant tumors. PMID:26767055

  10. Prophylactic irradiation in bronchogenic small cell anaplastic carcinoma

    SciTech Connect

    Hansen, H.H.; Dombernowsky, P.; Hirsch, F.R.; Hansen, M.; Rygard, J.

    1980-07-15

    A total of 114 patients with bronchogenic small cell anaplastic carcinoma and staged as having regional disease all underwent combination chemotherapy consisting of CCNU, cyclophosphamide, and methotrexate. They were randomized to receive either radiotherapy to the primary tumor and regional lymph nodes (4000 rad) or extensive radiotherapy, which included the brain, adrenals, and upper retroperitoneal lymph nodes. Fifteen patients were free of disease after 18 months of chemotherapy and the treatment was discontinued. Only 3 patients subsequently relapsed. No difference was observed between the two groups of patients in median survival time, response rate, duration of response, or relapse pattern, including the frequency of brain metastasis.

  11. Exercise-induced arteriovenous intrapulmonary shunting in dogs.

    PubMed

    Stickland, Michael K; Lovering, Andrew T; Eldridge, Marlowe W

    2007-08-01

    We have previously shown, using contrast echocardiography, that intrapulmonary arteriovenous pathways are inducible in healthy humans during exercise; however, this technique does not allow for determination of arteriovenous vessel size or shunt magnitude. The purpose of this study was to determine whether large-diameter (more than 25 microm) intrapulmonary arteriovenous pathways are present in the dog, and whether exercise recruits these conduits. Through the right forelimb, 10.8 million 25-microm stable isotope-labeled microspheres (BioPAL, Inc., Worcester, MA) were injected either at rest (n = 8) or during high-intensity exercise (6- 8 mph, 10-15% grade, n = 6). Systemic arterial blood was continuously sampled during and for 3 minutes after injection. After euthanasia, tissue samples were obtained from the heart, liver, kidney, and skeletal muscle. In addition, 25- and 50-microm microspheres were infused into four isolated dog lungs that were ventilated and perfused at constant pressures similar to exercise. Blood and tissue samples were commercially analyzed for the presence of microspheres. No microspheres were detected in the arterial blood or tissue samples from resting dogs. In contrast, five of six exercising dogs showed evidence of exercise-induced intrapulmonary arteriovenous shunting, as microspheres were detected in arterial blood and/or tissue. Furthermore, shunt magnitude was calculated to be 1.4 +/- 0.8% of cardiac output (n = 3). Evidence of intrapulmonary arteriovenous anastomoses was also found in three of four isolated lungs. Consistent with previous human findings, these data demonstrate that intrapulmonary arteriovenous pathways are functional in the dog and are recruited with exercise.

  12. Exercise-induced Arteriovenous Intrapulmonary Shunting in Dogs

    PubMed Central

    Stickland, Michael K.; Lovering, Andrew T.; Eldridge, Marlowe W.

    2007-01-01

    Rationale: We have previously shown, using contrast echocardiography, that intrapulmonary arteriovenous pathways are inducible in healthy humans during exercise; however, this technique does not allow for determination of arteriovenous vessel size or shunt magnitude. Objectives: The purpose of this study was to determine whether large-diameter (more than 25 μm) intrapulmonary arteriovenous pathways are present in the dog, and whether exercise recruits these conduits. Methods: Through the right forelimb, 10.8 million 25-μm stable isotope-labeled microspheres (BioPAL, Inc., Worcester, MA) were injected either at rest (n = 8) or during high-intensity exercise (6– 8 mph, 10–15% grade, n = 6). Systemic arterial blood was continuously sampled during and for 3 minutes after injection. After euthanasia, tissue samples were obtained from the heart, liver, kidney, and skeletal muscle. In addition, 25- and 50-μm microspheres were infused into four isolated dog lungs that were ventilated and perfused at constant pressures similar to exercise. Measurements and Main Results: Blood and tissue samples were commercially analyzed for the presence of microspheres. No microspheres were detected in the arterial blood or tissue samples from resting dogs. In contrast, five of six exercising dogs showed evidence of exercise-induced intrapulmonary arteriovenous shunting, as microspheres were detected in arterial blood and/or tissue. Furthermore, shunt magnitude was calculated to be 1.4 ± 0.8% of cardiac output (n = 3). Evidence of intrapulmonary arteriovenous anastomoses was also found in three of four isolated lungs. Conclusions: Consistent with previous human findings, these data demonstrate that intrapulmonary arteriovenous pathways are functional in the dog and are recruited with exercise. PMID:17478619

  13. [Intraoperative lymph node staging in bronchogenic carcinoma surgery. Consensus report].

    PubMed

    2001-12-01

    To define methods for lymph node staging and the absence of nodal involvement (pN0) during surgery for bronchogenic carcinoma (BC). Review of previous definitions of the Bronchogenic Carcinoma Cooperation Group of the Spanish Society of Pneumology and Chest Surgery (GCCB-S), and a comparison with the international literature; proposal of new definitions agreed upon by the GCCB-S. Methods for intraoperative lymph node evaluation proposed are as follows: not performed; biopsy (biopsy or removal of nodes with no intention of sampling all nodal stations); sampling (removal of nodes of a pre-established number of nodal stations, including at least the paratracheal, subcarinal and hilar stations); systematic nodal dissection (SND) (excision of all nodes from stations on the operated side); extended nodal dissection (removal of contralateral pulmonary and mediastinal nodes as a complement to SND); and miscellaneous, for other forms of intraoperative staging. The proposed definition for pN0 is removal of at least six lymph nodes, pathology of all N1 locations, removal of lymph nodes from right superior and inferior paratracheal and subcarinal stations for right lung tumors, removal of subcarinal nodes for left lung tumors, removal of subaortic and anterior mediastinal nodes for tumors of the left upper lobe, and removal of paraesophageal and pulmonary ligament nodes for tumors of lower lobes. The new definitions encompass the current forms of intraoperative evaluation of BC and avoid the inaccuracies of previous definitions from the GCCB-S.

  14. Continuous intrapulmonary distension with perfluorocarbon accelerates neonatal (but not adult) lung growth.

    PubMed

    Nobuhara, K K; Fauza, D O; DiFiore, J W; Hines, M H; Fackler, J C; Slavin, R; Hirschl, R; Wilson, J M

    1998-02-01

    We have previously demonstrated that experimental fetal tracheal ligation reverses the structural and physiological effects of pulmonary hypoplasia associated with congenital diaphragmatic hernia. The purpose of this study was to determine if lung growth could be similarly accelerated postnatally by continuous liquid-based intrapulmonary distension. Ten neonatal lambs were divided into two experimental groups. Five neonatal animals underwent a right thoracotomy with isolation of the anterior superior segment of the right upper lobe. A pressure monitoring catheter was introduced and perfluorocarbon (PFC) was instilled into the segment. Animals were subjected to a 21-day distention period with continuous maintenance of 7 to 10 mm Hg intrabronchial pressure. Five other neonatal animals used as age- and weight-matched controls were killed immediately after distension with PFC to 7 to 10 mm Hg. To evaluate the effect of age on postnatal growth, identical procedures were performed on seven mature sheep. Four adult animals underwent a 21-day distension with PFC, and three animals were killed immediately after PFC distension. Neonatal animals who underwent distension showed a significant acceleration of lung growth based on right upper lobe volume to body weight ratio (P = .0019), total alveolar number (P = .003), and total alveolar surface area (P = .006), when compared with controls. Alveolar growth was attributed to an increased alveolar number rather than increased alveolar size based on a normal histological appearance, normal airspace fraction (P = NS), and normal alveolar numerical density (P = NS). In contrast, no significant differences in lung growth or maturation indices were present in adult animals. From this preliminary data we conclude: (1) Liquid-based airway distension does accelerate postnatal lung growth, (2) lung architecture remains normal during this period of accelerated growth, (3) adult sheep do not respond to liquid-based airway distension with

  15. Bronchogenic Cyst Rupture and Pneumonia after Endobronchial Ultrasound-Guided Transbronchial Needle Aspiration: A Case Report

    PubMed Central

    Hong, Goohyeon; Song, Junwhi; Lee, Kyung-Jong; Jeon, Kyeongman; Koh, Won-Jung; Suh, Gee Young; Chung, Man Pyo; Kim, Hojoong; Kwon, O Jung

    2013-01-01

    We report a 54-year-old woman who presented with a well-defined, homogeneous, and non-enhancing mass in the retrobronchial region of the bronchus intermedius. The patient underwent endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) for histological confirmation. Serous fluid was aspirated by EBUS-TBNA. Cytological examination identified an acellular smear with negative microbiological cultures. The patient was finally diagnosed with bronchogenic cysts by chest computed tomography (CT) and EBUS-TBNA findings. However, 1 week after EBUS-TBNA, the patient developed bronchogenic cyst rupture and pneumonia. Empirical antibiotics were administered, and pneumonia from the bronchogenic cyst rupture had resolved on follow-up chest CT. To our knowledge, this is the first reported case of pneumonia from bronchogenic cyst rupture after EBUS-TBNA. PMID:23678359

  16. Non-infected and Infected Bronchogenic Cyst: The Correlation of Image Findings with Cyst Content

    PubMed Central

    Jeon, Hong Gil; Park, Ju Hwan; Park, Hye Min; Kwon, Woon Jung; Cha, Hee Jeong; Lee, Young Jik; Park, Chang Ryul; Jegal, Yangjin; Ahn, Jong-Joon

    2014-01-01

    We hereby report a case on bronchogenic cyst which is initially non-infected, then becomes infected after bronchoscopic ultrasound (US)-guided transesophageal fine-needle aspiration (FNA). The non-infected bronchogenic cyst appears to be filled with relatively echogenic materials on US, and the aspirate is a whitish jelly-like fluid. Upon contrast-enhanced MRI of the infected bronchogenic cyst, a T1-weighted image shows low signal intensity and a T2-weighted image shows high signal intensity, with no enhancements of the cyst contents, but enhancements of the thickened cystic wall. The patient then undergo video-assisted thoracic surgery 14 days after the FNA. The cystic mass is known to be completely removed, and the aspirate is yellowish and purulent. To understand the image findings that pertain to the gross appearance of the cyst contents will help to diagnose bronchogenic cysts in the future. PMID:24624219

  17. Bronchogenic/foregut cyst of the ileal mesentery in a child mimicking ovarian mass.

    PubMed

    Markel, Troy A; Lin, Jingmei; Fan, Rong; Billmire, Deborah F

    2013-10-01

    Intraabdominal bronchogenic cysts, a type of foregut cyst, are very rare. We report a case in a 12-year-old female who presented with severe abdominal pain and, in radiology workup, a cystic lesion that mimicked ovarian mass.

  18. Primary intrapulmonary neurogenic sarcoma with hypertrophic pulmonary osteoarthropathy and asbestosis

    PubMed Central

    Caves, P. K.; Jacques, J.

    1971-01-01

    A case of primary intrapulmonary neurogenic sarcoma with hypertrophic pulmonary osteoarthropathy and asbestosis is described. The essential histological features of this rare tumour are detailed, and the five authentic cases previously reported are reviewed. The pathogenesis of hypertrophic pulmonary osteoarthropathy and its occurrence in this case are discussed. After surgical removal of the tumour recurrence appeared in the chest within six months. It responded poorly to radiotherapy, and death from metastases occurred 16 months after operation. Images PMID:5576539

  19. Primary Intrapulmonary Thymoma Presenting as a Solitary Pulmonary Nodule

    PubMed Central

    Jung, Woohyun; Kang, Chang Hyun; Kim, Young Tae; Park, In Kyu

    2017-01-01

    Primary intrapulmonary thymoma (PIT) is a very rare lesion of uncertain pathogenesis. PIT should be considered when the histopathological appearance of a lung tumor shows features that are uncommon but similar to those of a thymoma. In this case report, we discuss the case of a 59-year-old female with a solitary pulmonary nodule that was confirmed to be PIT on the basis of pathological tests. Treatment with complete resection showed good results. PMID:28180106

  20. Intrapulmonary recombinant factor VIIa for diffuse alveolar hemorrhage in children.

    PubMed

    Park, Jeong A; Kim, Byoung-Ju

    2015-01-01

    Diffuse alveolar hemorrhage (DAH) is a life-threatening pulmonary complication in patients with hematologic malignancies or autoimmune disorders, and it has a high mortality rate. The current treatment options of corticosteroids, transfusions, and immunosuppressants have been limited and largely unsuccessful, and they can be accompanied by multiple complications. Intrapulmonary administration of recombinant activated factor VII (rFVIIa) has been reported in adults, but there are scarce data on its use in children. The present article reviews our institutional experience with intrapulmonary rFVIIa for the treatment of DAH in children. The study included 6 pediatric patients with acute, bronchoscopically confirmed DAH treated between 2011 and 2013. The median age was 11 years, and patient diagnoses were as follows: acute myeloid leukemia (2 patients), myelodysplastic syndrome (1 patient), hemophagocytic lymphohistiocytosis (1 patient), T-cell lymphoblastic lymphoma (1 patient), and idiopathic pulmonary hemosiderosis (1 patient). These patients were treated with intrapulmonary rFVIIa concurrent with methylprednisolone, fresh-frozen plasma, and maintenance of the platelet count >50 000/mm(3). Complete and sustained hemostasis after rFVIIa treatment and an absence of adverse events were observed in all patients. The PaO2/fraction of inspired oxygen ratio increased significantly, and rapid clinical improvements were observed. Two patients who received hematopoietic stem cell transplantation died of subsequent respiratory syncytial virus and Acinetobacter baumannii infections, but the other 4 patients exhibited rapid improvement, were successfully weaned from ventilators, and experienced long-term survival. Our findings indicate that intrapulmonary administration of rFVIIa is an effective and safe treatment option for children with DAH; however, further clinical studies are needed. Copyright © 2015 by the American Academy of Pediatrics.

  1. Co-existing Pulmonary Tuberculosis and Bronchogenic Carcinoma

    PubMed Central

    Holden, Helen M.; Quinlan, J. J.; Hiltz, J. E.

    1965-01-01

    Eighty patients with carcinoma of the lung have been treated at the Nova Scotia Sanatorium since 1940; in 15, coexisting active pulmonary tuberculosis was present. No characteristic clinical or roentgenological findings indicated that the tuberculous individual also had lung cancer. In four cases cancer was not diagnosed until the lung was examined by the pathologist. In the others a considerable interval elapsed before carcinoma was suspected. Only four patients with known cancer were considered suitable for thoracotomy. In three, an attempt at curative resection was made. One survived over seven years before accidental death; one is alive less than one year after operation; the third died as a result of the surgery. Bronchogenic carcinoma should be suspected in every tuberculous patient over the age of 50; diagnostic investigations should include bronchoscopy and cytological studies of bronchial secretion and sputum. Suspicion of carcinoma in any such patient constitutes an indication for early resection of the tuberculous disease. PMID:5843871

  2. Rate of rise of intrapulmonary CO2 drives breathing frequency in garter snakes.

    PubMed

    Furilla, R A

    1991-12-01

    Garter snakes increase ventilation in response to elevated venous PCO2 without a concomitant rise in arterial PCO2 (Furilla et al. Respir. Physiol. 83: 47-60, 1991). Elevating venous PCO2 will increase the PCO2 gradient between pulmonary arterial blood and intrapulmonary gas during inspiration, leading to a greater rate of rise of intrapulmonary CO2 after inspiration. Because the lung contains CO2-sensitive receptors, I assessed the effect of the rate of rise of intrapulmonary CO2 on ventilation in unidirectionally ventilated snakes. CO2 concentration was altered using a digital gas mixer connected to a personal computer. Breathing frequency was highly correlated with the rate of rise intrapulmonary CO2 but only slightly affected by peak intrapulmonary CO2. On the other hand, tidal volume was more closely related to peak intrapulmonary CO2 than to the rate of rise of CO2. Bilateral pulmonary or cervical vagotomy nearly eliminated the ventilatory response associated with altered CO2 rise times but had little influence on the tidal volume response to the rate of rise of CO2. The mechanism whereby breathing frequency is controlled by the rate of rise of intrapulmonary CO2 is likely to originate with intrapulmonary chemoreceptors and may be important in the control of breathing during exercise.

  3. Intrapulmonary shunting in primary pulmonary hypertension: an observation in two patients treated with epoprostenol sodium.

    PubMed

    Castro, P F; Bourge, R C; McGiffin, D C; Benza, R L; Fan, P; Pinkard, N B; McGoon, M D

    1998-07-01

    Continuous intravenous infusion of epoprostenol sodium in selected patients with primary pulmonary hypertension improves symptoms and survival. This report describes two patients with primary pulmonary hypertension treated with epoprostenol in whom intrapulmonary shunting and severe hypoxemia occurred. Intrapulmonary shunting was confirmed by contrast echocardiography showing delayed appearance of bubbles in the left cardiac chambers after peripheral venous injection of agitated saline solution.

  4. Prominent Intrapulmonary Bronchopulmonary Anastomoses and Abnormal Lung Development in Infants and Children with Down Syndrome.

    PubMed

    Bush, Douglas; Abman, Steven H; Galambos, Csaba

    2017-01-01

    To determine the frequency of histologic features of impaired lung vascular and alveolar development and to identify the presence of intrapulmonary bronchopulmonary anastomoses (IBA) in infants and children who died with Down syndrome. A retrospective review of autopsy reports and lung histology from 13 children with Down syndrome (ages: 0-8 years) was performed. Histologic features of abnormal lung development were identified and semiquantified, including the presence of IBA. Three-dimensional reconstructions of IBA were also performed. Comparisons were made with 4 age-matched patients without Down syndrome with congenital heart defects who underwent autopsies during this time period. Of the 13 subjects with Down syndrome, 69% died from cardiac events, 77% had a congenital heart defect, and 46% had a clinical diagnosis of pulmonary hypertension. Lung histology from all subjects with Down syndrome demonstrated alveolar simplification, and 92% had signs of persistence of a double capillary network in the distal lung. The lungs from the subjects with Down syndrome frequently had features of pulmonary arterial hypertensive remodeling (85%), and prominent bronchial vessels and IBA were observed in all subjects with Down syndrome. These features were more frequent in subjects with Down syndrome compared with control subjects. Children with Down syndrome who died of cardiopulmonary diseases often have histologic evidence of impaired lung alveolar and vascular development, including the presence of prominent IBA and pulmonary hypertension. We speculate that children with Down syndrome are at risk for reduced lung surface area and recruitment of IBA, which may worsen gas exchange in subjects with Down syndrome. Copyright © 2016 Elsevier Inc. All rights reserved.

  5. Endobronchial Ultrasound-guided Aspiration of an Endotracheal Bronchogenic Cyst: Case Report and Systematic Review of the Literature.

    PubMed

    Maturu, Venkata N; Dhooria, Sahajal; Agarwal, Ritesh; Behera, Digambar

    2016-04-01

    The most common location of bronchogenic cysts is the mediastinum, adjacent to the major airways. Endotracheal bronchogenic cysts are rare and most present in infancy with respiratory failure. Although surgical resection has remained the treatment of choice, there is increasing interest in the management of these cysts with therapeutic aspiration alone. In this article, we describe a 68-year-old man with endotracheal bronchogenic cyst who was managed with endobronchial ultrasound-guided needle aspiration. We also systematically review the literature for reports of endotracheal bronchogenic cysts. The review identified 9 reports (10 patients) with endotracheal bronchogenic cysts. The most common age at presentation was infancy (n=8) and surgical resection was the most common treatment modality used (n=7).

  6. Increased intrapulmonary retention of radiolabeled neutrophils in early oxygen toxicity

    SciTech Connect

    Rinaldo, J.E.; English, D.; Levine, J.; Stiller, R.; Henson, J.

    1988-02-01

    Sequential lung injuries, such as oxygen toxicity followed by septicemia, are common during the adult respiratory distress syndrome (ARDS). As these forms of vascular injury may be mediated in part by polymorphonuclear leukocytes (PMN), aberrant interactions between PMN and previously injured pulmonary endothelium are of both theoretical interest and clinical importance. The present study was undertaken to test the hypothesis that early oxygen toxicity at a dose that injuries pulmonary endothelium relatively selectively alters intrapulmonary neutrophil kinetics. Unanesthetized rats breathing 1.0 atmospheres oxygen for 36 h showed ultrastructural endothelial damage but no edema, injury, or neutrophilic inflammation by histologic criteria. However, in these oxygen-toxic animals, whereas initial accumulation of radiolabeled PMN in lungs was normal, washout of PMN was abnormal at 120 min after infusion, at which point the pulmonary retention of radiolabeled PMN in the lungs of oxygen-treated animals was significantly higher than in control animals (139% of control, p less than 0.0096). Features of our methodology, including avoidance of osmotic stress and use of paired control animals, appear to have greatly enhanced the sensitivity of radiolabeled neutrophils for detecting a subtle abnormality of neutrophil-endothelial interactions. Our studies in the oxygen toxicity model provide the first demonstration in vivo of abnormal intrapulmonary neutrophil kinetics in early oxygen toxicity prior to the onset of histologic evidence of lung injury or inflammation.

  7. Single-Dose Intrapulmonary Pharmacokinetics of Rifapentine in Normal Subjects

    PubMed Central

    Conte, John E.; Golden, Jeffrey A.; McQuitty, Mari; Kipps, Juliana; Lin, Emil T.; Zurlinden, Elisabeth

    2000-01-01

    The intrapulmonary pharmacokinetics of rifapentine were studied in 30 volunteers who received a single, oral dose of rifapentine (600 mg). Subgroups of five subjects each underwent bronchoscopy and bronchoalveolar lavage (BAL) at timed intervals following drug administration. Drug concentrations, including the concentration of the primary metabolite 25-desacetyl rifapentine, were determined in plasma, BAL fluid, and alveolar cells (AC) by high-pressure liquid chromatography. The concentrations in epithelial lining fluid (ELF) were calculated by the urea diffusion method. The concentration-time data were fit to two-compartment (plasma) or one-compartment (AC and ELF) models. The peak concentrations in plasma, ELF, and AC, 26.2, 3.7, and 5.3 μg/ml, respectively, occurred at 5, 5, and 7 h after drug administration, respectively. The half-lives and areas under the curve for plasma, ELF, and AC were 18.3 h and 520 μg · h/ml, 20.8 h and 111 μg · h/ml, and 13.0 h and 133 μg · h/ml, respectively. Although the intrapulmonary rifapentine concentrations were less than the plasma rifapentine concentrations at all time periods, they remained above the proposed breakpoint for M. tuberculosis (0.5 μg/ml) for the 48-h observation period. These data provide a pharmacokinetic rationale for extended-interval dosing. The optimum dosing regimen for rifapentine will have to be determined by controlled clinical trials. PMID:10722501

  8. Intracardiac bronchogenic cyst in a 2-year-old Nigerian boy

    PubMed Central

    Ogunkunle, Oluwatoyin Oluwafunmilayo; Animashaun, Deola

    2012-01-01

    Primary cardiac tumours are rare in the paediatric age group. Bronchogenic cysts, although relatively rare, represent the most common cystic lesion of the mediastinum. Intracardiac bronchogenic cysts however, are extremely rare. The authors are unaware of any case previously reported in a Nigerian child and hence report the case of a 2-year-old boy for its rarity and interest. The boy was referred for evaluation of a cardiac murmur. Clinical, radiological and electrographic findings were suggestive of mild pulmonary stenosis or an atrial septal defect (ASD). 2-dimensional echocardiography however, revealed in addition to a small ASD, an intracardiac mass attached to the tricuspid valve. The mass was surgically removed and found on histology to be a bronchogenic cyst. Our experience highlights the importance of echocardiography in the evaluation of asymptomatic patients with cardiac murmurs, in whom a rare lesion might have otherwise been missed. PMID:22605814

  9. Computed tomography evaluation of the adrenal gland in the preoperative assessment of bronchogenic carcinoma

    SciTech Connect

    Sandler, M.A.; Pearlberg, J.L.; Madrazo, B.L.; Gitschlag, K.F.; Gross, S.C.

    1982-12-01

    One hundred ten patients with proved bronchogenic carcinoma who were undergoing computed tomography (CT) of the thorax also underwent CT of the adrenals to determine the value of routine preoperative assessement of this gland. Sixteen adrenal masses were found in 11 patients. In five patients the adrenals were the only site of metastasis. CT of the adrenals should be performed routinely when the thorax is examined pre-operatively in patients with non-oat-cell bronchogenic carcinoma to improve patient selection for thoractomy.

  10. Castleman's disease: an intrapulmonary form with intrafissural development.

    PubMed

    Racil, Hajer; Cheikh Rouhou, Sana; Ismail, Olfa; Hantous-Zannad, Saoussen; Chaouch, Nawel; Zarrouk, Mourad; Smati, Belhassen; Mezni, Faouzi; Chabbou, Abdellatif

    2009-09-14

    Castleman's disease (CD) is an uncommon, mainly benign, lymphoproliferative disorder of unknown etiology, mostly involving the mediastinum. Parenchymal lung involvement of the disease is exceedingly rare. We describe a case of CD in a 23-year-old woman with a 4-year history of recurring dyspnea and nonproductive cough, whose chest X-ray showed an abnormal shadow of the right hilum. Chest computed tomography confirmed the presence of a tissue-density mass of the right lower lobe, demonstrating poor contrast enhancement, associated with multiple laterotracheal and mediastinal lymphadenopathies. The patient underwent curative surgery, revealing a right hilar compressive mass, with an intrafissural development between the superior and middle lobes. Pneumonectomy was performed due to profuse bleeding. This case of CD is particular because of its unusual intrapulmonary location and its intrafissural development. Poor contrast enhancement is atypical in CD.

  11. Alcohol Ablation Therapy of an Atypically Located Symptomatic Bronchogenic Cyst: A Case Report

    SciTech Connect

    Lakadamyali, Hatice Ergun, Tarkan; Lakadamyali, Huseyin; Oguzkurt, Levent

    2007-11-15

    Bronchogenic cyst is a rare developmental lesion. It is usually asymptomatic and most frequently located in the middle mediastinum and lung parenchyma. It can cause symptoms only when infected or pressing on neighboring structures. The MRI findings in a 34-year-old woman with an 8 months history of back pain were evaluated and revealed a cystic lesion in the left paravertebral area. The histopathologic evaluation of the material aspirated with CT guidance was reported to be bronchogenic cyst. A simultaneous alcohol ablation was accomplished. After the procedure the patient's pain disappeared and the follow-up MRI scan 1 year later revealed no relapse. Paravertebrally located bronchogenic cysts are very rare and only 3 cases were found to be reported in the medical literature prior to this one. While aspiration alone is sufficient for diagnosis, it is insufficient to treat the lesion and prevent the recurrences. This paper reports a paravertebral bronchogenic cyst which was symptomatic despite of its small size. CT-guided aspiration was accomplished and simultaneous alcohol ablation was carried out to prevent recurrences.

  12. Thoracoscopic resection of a bronchogenic cyst in a 17-year-old girl

    PubMed Central

    Pułtorak, Roksana; Pasierbek, Michał; Grabowski, Andrzej

    2016-01-01

    Bronchogenic cysts comprise approximately 6% of mediastinal tumors in children. The treatment consists in surgical resection of the cyst. The authors present the case of a 17-year-old girl who was accidentally diagnosed with a mediastinal cyst. The patient was successfully treated with thoracoscopic surgery with good early and late clinical outcomes. PMID:28096839

  13. A spontaneous bronchogenic carcinoma in a Sykes monkey (Cercopithecus mitis stuhlmani).

    PubMed

    Suleman, M A; Tarara, R; Mandalia, K M; Weiss, M

    1984-01-01

    A male blue monkey (Cercopithecus mitis stuhlmani), a subspecies of the Sykes group, was purchased from a commercial trapper as an adult in July 1978 and kept at the Institute of Primate Research, Kenya, for 2 years. The animal developed acute respiratory distress and died. Small nodular foci were found in the lung at necropsy and diagnosed as bronchogenic carcinoma on histopathology.

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

    PubMed

    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.

  15. Intrapulmonary shunt is a potentially unrecognized cause of ischemic stroke and transient ischemic attack.

    PubMed

    Abushora, Mohannad Y; Bhatia, Nirmanmoh; Alnabki, Ziad; Shenoy, Mohan; Alshaher, Motaz; Stoddard, Marcus F

    2013-07-01

    Ischemic stroke is a major cause of mortality and disability. Transient ischemic attack (TIA) is a harbinger of stroke. The etiology of stroke in as many as 40% of patients remains undetermined after extensive evaluation. It was hypothesized that intrapulmonary shunt is a potential facilitator of cerebrovascular accident (CVA) or TIA. Patients undergoing clinically indicated transesophageal echocardiography were prospectively enrolled. Comprehensive multiplane transesophageal echocardiographic imaging was performed and saline contrast done to assess for intrapulmonary shunt and patent foramen ovale. Three hundred twenty-one patients with either nonhemorrhagic CVA (n = 262) or TIA (n = 59) made up the stroke group. Three hundred twenty-one age-matched and gender-matched patients made up the control group. Intrapulmonary shunt occurred more frequently in the stroke group (72 of 321) compared with the control group (32 of 321) (22% vs 10%, P < .0001). Intrapulmonary shunt was an independent predictor of CVA and/or TIA (odds ratio, 2.6; P < .0001). In subjects with cryptogenic CVA or TIA (n = 71), intrapulmonary shunt occurred more frequently (25 of 71) than in the control group (5 of 71) (35% vs 7%, P < .0001). Intrapulmonary shunt was an independent multivariate predictor of CVA or TIA in patients with cryptogenic CVA or TIA (odds ratio, 6.3; P < .005). These results suggest that intrapulmonary shunt is a potentially unrecognized facilitator of CVA and TIA, especially in patients with cryptogenic CVA and TIA. Future studies assessing the prognostic significance of intrapulmonary shunt on cerebral vascular event recurrence rates in patients after initial CVA or TIA would be of great interest. Copyright © 2013 American Society of Echocardiography. Published by Mosby, Inc. All rights reserved.

  16. Intrapulmonary Hartmannella vermiformis: a potential niche for Legionella pneumophila replication in a murine model of legionellosis.

    PubMed Central

    Brieland, J; McClain, M; LeGendre, M; Engleberg, C

    1997-01-01

    The potential role of inhaled protozoa as a niche for intrapulmonary replication of Legionella pneumophila was investigated in vivo with mutant strains of L. pneumophila which have reduced virulence for the amoeba Hartmannella vermiformis. L. pneumophila AA488 and AA502 were derived from wild-type strain AA100 after transposon mutagenesis. These mutants have reduced virulence for H. vermiformis but are fully virulent for mononuclear phagocytic cells. A/J mice, which are susceptible to replicative L. pneumophila lung infections, were inoculated intratracheally with L. pneumophila AA100, AA488, or AA502 (10[6] bacteria per mouse) or were coinoculated with one of the L. pneumophila strains (10[6] bacteria per mouse) and uninfected H. vermiformis (10[6] amoebae per mouse). The effect of coinoculation with H. vermiformis on intrapulmonary growth of each L. pneumophila strain was subsequently assessed. In agreement with our previous studies, coinoculation with H. vermiformis significantly enhanced intrapulmonary growth of the parent L. pneumophila strain (AA100). In contrast, intrapulmonary growth of L. pneumophila AA488 or AA502 was not significantly enhanced by coinoculation of mice with H. vermiformis. These studies demonstrate that L. pneumophila virulence for amoebae is required for maximal intrapulmonary growth of the bacteria in mice coinoculated with H. vermiformis and support the hypothesis that inhaled amoebae may potentiate intrapulmonary growth of L. pneumophila by providing a niche for bacterial replication. PMID:9353084

  17. Intrapulmonary shunt and SCUBA diving: another risk factor?

    PubMed

    Madden, Dennis; Ljubkovic, Marko; Dujic, Zeljko

    2015-02-01

    Laboratory and field investigations have demonstrated that intrapulmonary arteriovenous anastomoses (IPAVA) may provide an additional means for venous gas emboli (VGE) to cross over to the arterial circulation due to their larger diameter compared to pulmonary microcirculation. Once thought to be the primary cause of decompression sickness (DCS), it has been demonstrated that, even in large quantities, their presence does not always result in injury. Normally, VGE are trapped in the site of gas exchange in the lungs and eliminated via diffusion. When VGE crossover takes place in arterial circulation, they have the potential to cause more harm as they are redistributed to the brain, spinal column, and other sensitive tissues. The patent foramen ovale (PFO) was once thought to be the only risk factor for an increase in arterialization; however, IPAVAs represent another pathway for this crossover to occur. The opening of IPAVAs is associated with exercise and hypoxic gas mixtures, both of which divers may encounter. The goal of this review is to describe how IPAVAs may impact diving physiology, specifically during decompression, and what this means for the individual diver as well as the future of commercial and recreational diving. Future research must continue on the relationship between IPAVAs and the environmental and physiological circumstances that lead to their opening and closing, as well as how they may contribute to diving injuries such as DCS.

  18. A case-control study of bidi smoking and bronchogenic carcinoma

    PubMed Central

    Prasad, R.; Ahuja, R. C.; Singhal, S.; Srivastava, A. N.; James, P.; Kesarwani, V.; Singh, D.

    2010-01-01

    OBJECTIVE: To evaluate the risks imposed by tobacco smoking, in particular, bidi smoking, in the development of lung cancer. METHODS: Two hundred eighty-four histologically confirmed patients of bronchogenic carcinoma and 852 controls matched for age, sex, and socioeconomic status were interviewed according to a predesigned questionnaire. Effects of individual variables defining the various aspects of tobacco smoking, in particular, bidi smoking, were assessed using logistic regression models. RESULTS: 81.3% cases of bronchogenic carcinoma were ever smokers as compared with 42.2% among controls. The odd ratios for ever smoking, bidi smoking, and cigarette smoking were 5.9 (confidence interval [CI] 4.3, 8.4), 6.1 (CI 4.3, 8.7), and 5.3 (CI 2.7, 10.4), respectively. CONCLUSION: Bidi smoking poses a very high risk for lung cancer even more than that of cigarette smoking. PMID:20981185

  19. Intrapulmonary Recombinant Factor VII as an Effective Treatment for Diffuse Alveolar Hemorrhage: A Case Series.

    PubMed

    Baker, Mary S; Diab, Khalil J; Carlos, W Graham; Mathur, Praveen

    2016-07-01

    The diffuse alveolar hemorrhage (DAH) syndrome is a life-threatening pulmonary complication related to systemic vasculitides, posthematopoietic stem cell transplantation, drugs, or toxins. Once DAH develops, the mortality rate is as high as 50% to 80%. Initial treatment consists of high-dose steroids and supportive measures, including mechanical ventilation. We present a case series of 6 patients treated with intrapulmonary recombinant factor VIIa (rFVIIa) to treat refractory DAH. Six patients with DAH were treated with intrapulmonary instillation of rFVIIa. Doses were divided equally between the right and the left lungs. Doses were 30, 50, or 60 mcg/kg and frequencies varied from a single administration to repeated doses on subsequent days on the basis of the clinical response. All patients received high-dose steroids, and 4 also received an aminocaproic acid infusion. Intrapulmonary rVFIIa treated DAH effectively in 5 of 6 patients. Doses used were smaller and less frequent than those described previously. Intrapulmonary factor VII is an effective adjunctive treatment for DAH. We achieved treatment success with both smaller and less frequent doses than those described previously. This may be a good therapeutic option for DAH, particularly when standard therapies have failed or bleeding is immediately life threatening. It is possible that intrapulmonary rFVIIa could save costs, while improving the intensive care unit length of stay. Further prospective studies are needed to assess the optimal dose and frequency for adequate therapeutic efficacy.

  20. Successful treatment of an intrathoracic bronchogenic cyst in a Holstein-Friesian calf

    PubMed Central

    2013-01-01

    A 5-½-month-old female Holstein-Friesian calf was presented with a history of recurring ruminal tympany and poor development. The absence of lung sounds on the right hemithorax suggested a right-sided intrathoracic pathology. Radiography and computed tomography revealed a large thin-walled cavernous lesion with a gas-fluid interface which almost completely filled the right thoracic cavity. Fluid aspirated from the lesion was clear, yellowish and odorless. These findings led to the diagnosis of a bronchogenic cyst. Thoracotomy was performed under general anesthesia. The cyst strongly adhered to the adjacent lung tissue. After removal of the free wall, the adjacent lung tissue was sealed using surgical stapling instruments, and the non-removable part of the wall was curetted and rinsed. The intensive postoperative management included antibiotic therapy, oxygen supplementation and regional lidocaine infusion. Anti-inflammatory drugs were administered for further pain control. The calf recovered well and was released from the clinic on postoperative day 11. Intra- or extrathoracic bronchogenic cysts result from abnormal budding during the embryonic development of the tracheobronchial system. Successful treatment of this calf despite the size of the lesion and the invasive character of the surgical intervention indicates that resection of bronchogenic cysts in cattle may be an option for valuable animals. PMID:23421871

  1. Intrapulmonary concentration of levofloxacin in patients with idiopathic pulmonary fibrosis.

    PubMed

    Huang, Hui; Wang, Yanxun; Jiang, Chunguo; Lang, Liwei; Wang, Hongyun; Chen, Yong; Zhao, Yang; Xu, Zuojun

    2014-06-01

    Patients with idiopathic pulmonary fibrosis (IPF) have significantly impaired pulmonary diffusion, which may affect the pulmonary concentration of many drugs, including antibiotics. In this study, we compared the difference in pulmonary levofloxacin (LVFX) concentration between patients with normal lung function and IPF. The IPF group included 10 patients with a proven diagnosis of IPF and a diffusing capacity for carbon monoxide ranging from 40% to 70% of predicted values. The control group included 10 patients with normal pulmonary function. Blood and bronchoalveolar lavage fluid (BALF) were taken at 3-3.5 h after fasting. LVFX (500 mg) was administered orally. LVFX concentrations in the serum and BALF were determined using HPLC-MS/MC. The level of LVFX in alveolar epithelial lining fluid (ELF) was calculated using the following formula: LVFX ELF = LVFX BALF × (Urea serum/Urea BALF). No significant differences in age, body weight, height, and calculated creatinine clearance and BALF retrieval rate were observed between groups. LVFX serum concentrations in the IPF and control groups were (5.97 ± 1.28) μg/ml and (6.84 ± 3.43) μg/ml, respectively (P = 0.4727). ELF concentration of LVFX in the control group was (27.81 ± 21.36) μg/ml, while the concentration in the IPF group was (10.17 ± 2.46) μg/ml, less than half of that in the controls (P = 0.0058). The intrapulmonary concentration of LVFX in IPF patients was lower than those with normal lung function. Notably, however, the ELF LVFX concentration following 500 mg once-daily exceeded the MIC90 of common respiratory pathogens. Excellent antibacterial efficacy of LVFX can be expected for IPF patients in the treatment of respiratory tract infections.

  2. Peripheral intrapulmonary lymph node metastases of non-small-cell lung cancer.

    PubMed

    Boubia, Souheil; Barthes, Françoise Lepimpec; Danel, Claire; Riquet, Marc

    2004-03-01

    Since the development and progress of computed tomographic imaging, peripheral intrapulmonary lymph nodes (IPLNs) have become increasingly described and well-known entities. Intrapulmonary lymph nodes may appear as a solitary pulmonary nodular shadow mimicking a non-small-cell lung cancer (NSCLC) or as multiple nodules masquerading as carcinoma metastases. We describe a case in which IPLNs presented as a clinical "nodular" T4 N0 NSCLC that finally proved to be a pathologic T2 N1 NSCLC, thus raising new questions on this entity.

  3. Intrapulmonary receptors in the Tegu lizard: I. Sensitivity to CO2.

    PubMed

    Feede, M R; Kuhlmann, W D; Scheid, P

    1977-02-01

    Single unit vagal recordings from intrapulmonary receptors were obtained in decerebrate, paralyzed lizards both during pump ventilation and during unidirectional ventilation on the cannulated, sack-shaped lung. Two types of receptors were identified: (1) CO2-receptors, which increased their discharge frequency as intrapulmonary CO2 concentration decreased but were not sensitive to stretch of the lung. (2) Mechanoreceptors, which rapidly increased discharge frequency when the lung was stretched. These receptors' CO2 sensitivity varied. Lungs of lizards thus appeared to possess both CO2 receptors, which have functional characteristics similar to those in birds, and mechanoreceptors with properties similar to stretch receptors in mammals.

  4. Compartmentalized Intrapulmonary Pharmacokinetics of Amphotericin B and Its Lipid Formulations

    PubMed Central

    Groll, Andreas H.; Lyman, Caron A.; Petraitis, Vidmantas; Petraitiene, Ruta; Armstrong, Derek; Mickiene, Diana; Alfaro, Raul M.; Schaufele, Robert L.; Sein, Tin; Bacher, John; Walsh, Thomas J.

    2006-01-01

    We investigated the compartmentalized intrapulmonary pharmacokinetics of amphotericin B and its lipid formulations in healthy rabbits. Cohorts of three to seven noninfected, catheterized rabbits received 1 mg of amphotericin B deoxycholate (DAMB) per kg of body weight or 5 mg of either amphotericin B colloidal dispersion (ABCD), amphotericin B lipid complex (ABLC), or liposomal amphotericin B (LAMB) per kg once daily for a total of 8 days. Following sparse serial plasma sampling, rabbits were sacrificed 24 h after the last dose, and epithelial lining fluid (ELF), pulmonary alveolar macrophages (PAM), and lung tissue were obtained. Pharmacokinetic parameters in plasma were derived by model-independent techniques, and concentrations in ELF and PAM were calculated based on the urea dilution method and macrophage cell volume, respectively. Mean amphotericin B concentrations ± standard deviations (SD) in lung tissue and PAM were highest in ABLC-treated animals, exceeding concurrent plasma levels by 70- and 375-fold, respectively (in lung tissue, 16.24 ± 1.62 versus 2.71 ± 1.22, 6.29 ± 1.17, and 6.32 ± 0.57 μg/g for DAMB-, ABCD-, and LAMB-treated animals, respectively [P = 0.0029]; in PAM, 89.1 ± 37.0 versus 8.92 ± 2.89, 5.43 ± 1.75, and 7.52 ± 2.50 μg/ml for DAMB-, ABCD-, and LAMB-treated animals, respectively [P = 0.0246]). By comparison, drug concentrations in ELF were much lower than those achieved in lung tissue and PAM. Among the different cohorts, the highest ELF concentrations were found in LAMB-treated animals (2.28 ± 1.43 versus 0.44 ± 0.13, 0.68 ± 0.27, and 0.90 ± 0.28 μg/ml in DAMB-, ABCD-, and ABLC-treated animals, respectively [P = 0.0070]). In conclusion, amphotericin B and its lipid formulations displayed strikingly different patterns of disposition in lungs 24 h after dosing. Whereas the disposition of ABCD was overall not fundamentally different from that of DAMB, ABLC showed prominent accumulation in lung tissue and PAM, while LAMB

  5. Intrapulmonary Versus Nasal Transduction of Murine Airways With GP64-pseudotyped Viral Vectors

    PubMed Central

    Oakland, Mayumi; Maury, Wendy; McCray, Paul B; Sinn, Patrick L

    2013-01-01

    Persistent viral vector-mediated transgene expression in the airways requires delivery to cells with progenitor capacity and avoidance of immune responses. Previously, we observed that GP64-pseudotyped feline immunodeficiency virus (FIV)-mediated gene transfer was more efficient in the nasal airways than the large airways of the murine lung. We hypothesized that in vivo gene transfer was limited by immunological and physiological barriers in the murine intrapulmonary airways. Here, we systematically investigate multiple potential barriers to lentiviral gene transfer in the airways of mice. We show that GP64-FIV vector transduced primary cultures of well-differentiated murine nasal epithelia with greater efficiency than primary cultures of murine tracheal epithelia. We further demonstrate that neutrophils, type I interferon (IFN) responses, as well as T and B lymphocytes are not the major factors limiting the transduction of murine conducting airways. In addition, we observed better transduction of GP64-pseudotyped vesicular stomatitis virus (VSV) in the nasal epithelia compared with the intrapulmonary airways in mice. VSVG glycoprotein pseudotyped VSV transduced intrapulmonary epithelia with similar efficiency as nasal epithelia. Our results suggest that the differential transduction efficiency of nasal versus intrapulmonary airways by FIV vector is not a result of immunological barriers or surface area, but rather differential expression of cellular factors specific for FIV vector transduction. PMID:23360952

  6. Differential diagnosis between freshwater drowning and saltwater drowning based on intrapulmonary aquaporin-5 expression.

    PubMed

    Hayashi, Takahito; Ishida, Yuko; Mizunuma, Shinya; Kimura, Akihiko; Kondo, Toshikazu

    2009-01-01

    The intrapulmonary expression of aquaporin-5 (AQP5) was examined in an experimental drowning model and forensic autopsy cases to discuss the possibility for differentiation between freshwater drowning (FWD) and saltwater drowning (SWD). In animal experiments, mice were classified into four groups: (group I: FWD; group II: SWD; group III: postmortem immersion (PI); and group IV: cervical dislocation as controls. In group I, intrapulmonary AQP5 expression was significantly suppressed at both gene and protein levels, compared with the other three groups, and there was no significant difference in AQP5 expression among groups II to IV. In the next series, we examined AQP5 gene expression in human lung samples obtained from forensic autopsies at less than 48 h postmortem (nine FWD cases, five SWD cases, and 14 other cases). Although AQP5 mRNA could be detected in all lung samples under the employed experimental conditions, the intrapulmonary gene expression of AQP5 in FWD was significantly attenuated compared with the other groups. These observations imply that AQP5 expression in type I alveolar epithelial cells was suppressed by hypotonic water to prevent hemodilution from the physiological aspect. Moreover, the analysis of intrapulmonary AQP5 expression would be forensically useful for differentiation between FWD and SWD, or between FWD and PI.

  7. Effect of right ventricular bypass peak flow-rate on intrapulmonary shunt ratio.

    PubMed

    Hashimoto, S; Moriya, H

    1988-02-01

    The effect of total right ventricular bypass peak flow-rate on the intrapulmonary shunt ratio was quantitatively investigated in animal tests. To give variations in the peak flow-rate (from pulsatile to intermediate to non-pulsatile), three types of blood pump (piston-bellows, screw, and centrifugal) were applied to dogs. The intrapulmonary shunt ratio was calculated from blood oxygen content drawn every 30 min from the outlet of the right ventricular bypass pump and from the femoral artery, while the canine lung was ventilated with 100% oxygen gas by an artificial respirator. The results show that when the intrapulmonary shunt ratio ranged between 0.095 and 0.392 there is no clear relation to the peak-flow-rate index (which varied from 1.1-17.0 l min-1 m-2) over the preceding 30 min. This study demonstrates that the intrapulmonary shunt ratio is able to be kept within the range of control values for 6 h even with a peak-flow-rate index of less than 4.0 l min-1 m-2.

  8. Heterogeneity of tight junction morphology in extrapulmonary and intrapulmonary airways of the rat.

    PubMed

    Schneeberger, E E

    1980-10-01

    In the present study morphology of tight junctions was related to the various cell types lining extrapulmonary and intrapulmonary airways of the rat. Freeze fracture replicas were prepared from extrapulmonary airway epithelium derived from the cartilagenous and membranous sides of upper, middle, and lower thirds of the trachea. Intrapulmonary airway epithelium was obtained from airways less than 1 mm in diameter. Tight junction fibrils on the P fracture face were organized into three types of patterns. Type 1: parallel sparsely interconnected lumenal fibrils with large ablumenal fibril loops. Type 2: richly interconnected lumenal fibrils with large ablumenal fibril loops. Type 3: narrow network of interconnected fibrils. On the E fracture face complementary grooves were organized in a similar pattern. Ciliated cells on both sides and all levels of the trachea were associated with type 1 junctions. In intrapulmonary airways, however, the junctional pattern of ciliated cells changed to type 2. Brush cells at all levels of the airways were bounded by type 2 and occasionally by type 1 junctions. Secretory cell junctions displayed the following patterns: Mucous cells were bounded solely by type 3, serous cells by either types 2 or 3, and Clara cells predominantly by type 2. Cells tentatively identified as intermediate cells displayed all three junctional patterns. The number of parallel fibrils comprising tight junctions was higher in extrapulmonary as compared to intrapulmonary airways. No difference was seen in the various locations sampled in the trachea. Gap junctions were observed between secretory cells of extrapulmonary but not intrapulmonary airways. These observations are discussed in relation to current physiologic data.

  9. Metastasis of greater wing of sphenoid bone in bronchogenic carcinoma: a unusual case report.

    PubMed

    Gupta, Prashant K; Mital, Mukta; Dwivedi, Amit; Gupta, Kumkum

    2011-01-01

    Orbital metastasis in systemic cancer is known to occur and occurs in up to 7% of all systemic cancers. Orbital features typically present after the diagnosis of the primary tumor. In about 20% of cases, there is no known primary cancer at the time of presentation with orbital metastatic disease. Here we report a case of a 60-year-old male smoker, in whom proptosis, due to metastasis in greater wing of left sphenoid bone secondary to bronchogenic carcinoma, was the initial symptom. We could not find in literature metastasis to greater wing of sphenoid bone due to small cell carcinoma of lung.

  10. Relation between migraine and size of echocardiographic intrapulmonary right-to-left shunt.

    PubMed

    van Gent, Marco W F; Mager, Johannes J; Snijder, Repke J; Westermann, Cornelis J J; Plokker, Herbert W M; Schonewille, Wouter J; Thijs, Vincent; Post, Martijn C

    2011-05-01

    An increased prevalence of intrapulmonary right-to-left shunt (RLS) has been shown in patients with migraine. The aim of this study was to determine whether the size of intrapulmonary RLS was associated with migraine with aura (MA+) and migraine without aura (MA-) in subjects screened for hereditary hemorrhagic telangiectasia. A total of 462 consecutive subjects were screened for hereditary hemorrhagic telangiectasia and underwent transthoracic contrast echocardiography. A pulmonary shunt was established when contrast appeared in the left atrium after 4 cardiac cycles. Shunt size was assessed semiquantitatively as small (<30 microbubbles), moderate (30 to 100 microbubbles), or large (>100 microbubbles). A headache questionnaire was completed by 420 subjects (91%). Two independent neurologists diagnosed migraine according to the International Headache Society criteria. Of 420 screened subjects (mean age 43.4 ± 15.4 years, 61.4% women), 44 (10.5%) had MA+ and 45 (10.7%) had MA-. MA+ was an independent predictor for an intrapulmonary RLS (odds ratio [OR] 2.96, 95% confidence interval [CI] 1.36 to 6.47, p=0.006) in multivariate analysis. MA- was not correlated with RLS (OR 1.21, 95% CI 0.56 to 2.64, p=0.60). When comparing patients with MA+ to those without migraine in a multivariate analysis, the presence of an intrapulmonary shunt predicted MA+ (OR 2.5, 95% CI 1.2 to 5.2, p=0.01), as did female gender (OR 3.15, 95% CI 1.29 to 7.65, p<0.01). The correlation of MA+ and RLS could be entirely attributed to large intrapulmonary shunts (OR 7.61, 95% CI 3.11 to 18.61, p<0.001), as small (OR 0.6, 95% CI 0.13 to 2.78, p=0.52) and moderate (OR 1.33, 95% CI 0.35 to 5.02, p=0.68) shunts did not appear to be risk factors for MA+. In conclusion, patients with large intrapulmonary RLS have an increased risk for MA+. Copyright © 2011 Elsevier Inc. All rights reserved.

  11. Intrapulmonary vascular shunt pathways in alveolar capillary dysplasia with misalignment of pulmonary veins.

    PubMed

    Galambos, Csaba; Sims-Lucas, Sunder; Ali, Noorjahan; Gien, Jason; Dishop, Megan K; Abman, Steven H

    2015-01-01

    Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a lethal neonatal lung disease characterised by severe pulmonary hypertension, abnormal vasculature and intractable hypoxaemia. Mechanisms linking abnormal lung vasculature with severe hypoxaemia in ACD/MPV are unknown. We investigated whether bronchopulmonary anastomoses form right-to-left shunt pathways in ACD/MVP. We studied 2 infants who died of ACD/MPV postmortem with direct injections of coloured ink into the pulmonary artery, bronchial artery and pulmonary veins. Extensive histological evaluations included serial sectioning, immunostaining and 3-dimensional reconstruction demonstrated striking intrapulmonary vascular pathways linking the systemic and pulmonary circulations that bypass the alveolar capillary bed. These data support the role of prominent right-to-left intrapulmonary vascular shunt pathways in the pathophysiology of ACD/MPV.

  12. Reversibility of intrapulmonary arteriovenous shunts in liver cirrhosis documented by serial radionuclide perfusion lung scans

    SciTech Connect

    Chen, N.S.; Barnett, C.A.; Farrer, P.A.

    1984-05-01

    Using serial perfusion lung scans, the opening up and closure of right-to-left intrapulmonary arteriovenous shunts has been documented over a period of several weeks in a patient with chronic alcoholic liver disease. The presence of the shunts correlates well with the severity of hypoxemia and the presence of nodular mottling on chest radiographs. The time course of these changes with clinical status suggests lability and the functional nature of these shunts.

  13. Diffuse intrapulmonary malignant mesothelioma masquerading as interstitial lung disease: a distinctive variant of mesothelioma.

    PubMed

    Larsen, Brandon T; Klein, Julianne R H; Hornychová, Helena; Nuti, Rathna; Thirumala, Seshadri; Leslie, Kevin O; Colby, Thomas V; Tazelaar, Henry D

    2013-10-01

    Malignant mesothelioma typically encases lungs as a thick rind, while relatively sparing lung parenchyma. We describe an unusual presentation of mesothelioma characterized by diffuse intrapulmonary growth, with absent or inconspicuous pleural involvement, clinically simulating interstitial lung disease (ILD). We identified 5 patients (median age 56 y, all men) with diffuse intrapulmonary malignant mesothelioma in our pathology consultation practice from 2009 to 2012. Clinical history, imaging, and pathology materials were reviewed. Symptoms included chronic dyspnea (4 cases), cough (3), and acute dyspnea with bilateral pneumothorax (1). Chest imaging showed irregular opacities (5), reticulation (4), pleural effusions (2), and subpleural nodular densities (1), without radiologic evidence of pleural disease or masses. A clinicoradiologic diagnosis of ILD was made in all cases, and wedge biopsies were performed. Histologic evaluation revealed a neoplastic proliferation of bland epithelioid or spindled cells, showing various growth patterns simulating silicotic nodules, desquamative interstitial pneumonia, organizing pneumonia, and Langerhans cell histiocytosis. Some areas mimicked adenocarcinoma, with lepidic, acinar, micropapillary, and solid patterns. Initial diagnoses by referring pathologists included reactive changes (1), hypersensitivity pneumonitis versus drug reaction (1), desquamative interstitial pneumonia versus neoplasm (1), and mesothelioma (2). Microscopic pleural involvement was identified in 4 cases. Immunohistochemistry confirmed the characteristic immunophenotype of mesothelioma in all cases. Median survival of 3 patients treated with chemotherapy was 28 months. Two patients received no therapy and survived 3 and 4 weeks, respectively. "Diffuse intrapulmonary malignant mesothelioma" is a rare variant with a distinctive presentation that clinically mimics ILD. Recognition is essential to avoid misdiagnosis.

  14. Isometric responses of isolated intrapulmonary bronchioles from cats with and without adult heartworm infection.

    PubMed

    Wooldridge, Anne A; Dillon, A Ray; Tillson, D Michael; Zhong, Qiao; Barney, Sharron R

    2012-03-01

    To determine the isometric responses of isolated intrapulmonary bronchioles from cats with and without adult heartworm infection. 13 purpose-bred adult cats. Cats were infected with 100 third-stage larvae or received a sham inoculation, and the left caudal lung lobe was collected 278 to 299 days after infection. Isometric responses of intrapulmonary bronchiolar rings were studied by use of a wire myograph. Three cycles of contractions induced by administration of 10 μM acetylcholine were followed by administration of the contractile agonists acetylcholine, histamine, and 5-hydroxy-tryptamine. To evaluate relaxation, intrapulmonary bronchiolar rings were constricted by administration of 10 μM 5-hydroxytryptamine, and concentration-response curves were generated from administration of sodium nitroprusside, isoproterenol, and substance P. Compared with tissues from control cats, contractile responses to acetylcholine and 5-hydroxytryptamine were reduced in tissues from heartworm-infected cats. Relaxation to isoproterenol was significantly reduced in tissues from heartworm-infected cats. Relaxation to substance P was increased in tissues from heartworm-infected cats, but relaxation to sodium nitroprusside was unchanged. Results suggested that despite increased bronchiolar wall thickness in heartworm-infected cats, a hyperreactive response of the bronchiolar smooth muscle is not the primary mechanism of respiratory tract clinical signs. Reduced response of the airway to isoproterenol may indicate refractoriness to bronchiolar relaxation in heartworm-infected cats.

  15. Coexisting Bronchogenic Carcinoma and Pulmonary Tuberculosis in the Same Lobe: Radiologic Findings and Clinical Significance

    PubMed Central

    Kim, Young Il; Kim, Hyae Young; Song, Jae Woo; Im, Jung-Gi

    2001-01-01

    Objective Bronchogenic Carcinoma Can Mimic Or Be Masked By Pulmonary Tuberculosis (Tb), And The Aim Of This Study Was To Describe The Radiologic Findings And Clinical Significance Of Bronchogenic Carcinoma And Pulmonary Tb Which Coexist In The Same Lobe. Materials and Methods The findings of 51 patients (48 males and three females, aged 48-79 years) in whom pulmonary TB and bronchogenic carcinoma coexisted in the same lobe were analyzed. The morphologic characteristics of a tumor, such as its diameter and margin, the presence of calcification or cavitation, and mediastinal lymphadenopathy, as seen at CT, were retrospectively assessed, and the clinical stage of the lung cancer was also determined. Using the serial chest radiographs available for 21 patients, the possible causes of delay in the diagnosis of lung cancer were analyzed. Results Lung cancers with coexisting pulmonary TB were located predominantly in the upper lobes (82.4%). The mean diameter of the mass was 5.3 cm, and most tumors (n=42, 82.4%) had a lobulated border. Calcification within the tumor was seen in 20 patients (39.2%), and cavitation in five (9.8%). Forty-two (82.4%) had mediastinal lymphadenopathy, and more than half the tumors (60.8%) were at an advanced stage [IIIB (n=11) or IV (n=20)]. The average delay in diagnosing lung cancer was 11.7 (range, 1-24) months, and the causes of this were failure to observe new nodules masked by coexisting stable TB lesions (n=8), misinterpretation of new lesions as aggravation of TB (n=5), misinterpretation of lung cancer as tuberculoma at initial radiography (n=4), masking of the nodule by an active TB lesion (n=3), and subtleness of the lesion (n=1). Conclusion Most cancers concurrent with TB are large, lobulated masses with mediastinal lymphadenopathy, indicating that the morphologic characteristics of lung cancer with coexisting pulmonary TB are similar to those of lung cancer without TB. The diagnosis of lung cancer is delayed mainly because of

  16. Comparison of immune responses to intranasal and intrapulmonary vaccinations with the attenuated Mycoplasma hyopneumoniae 168 strain in pigs.

    PubMed

    Li, Pengcheng; Li, Yunfeng; Shao, Guoqing; Yu, Qinghua; Yang, Qian

    2015-05-01

    The aim of this study was to evaluate the immune responses to intranasal and intrapulmonary vaccinations with the attenuated Mycoplasma hyopneumoniae (Mhp) 168 strain in the local respiratory tract in pigs. Twenty-four pigs were randomly divided into 4 groups: an intranasal immunization group, an intrapulmonary immunization group, an intramuscular immunization group and a control group. The levels of local respiratory tract cellular and humoral immune responses were investigated. The levels of interleukin (IL)-6 in the early stage of immunization (P<0.01), local specific secretory IgA (sIgA) in nasal swab samples (P<0.01); and IgA- and IgG-secreting cells in the nasal mucosa and trachea were higher after intranasal vaccination (P<0.01) than in the control group. Interestingly, intrapulmonary immunization induced much stronger immune responses than intranasal immunization. Intrapulmonary immunization also significantly increased the secretion of IL-6 and local specific sIgA and the numbers of IgA- and IgG-secreting cells. The levels of IL-10 and interferon-γ in the nasal swab samples and the numbers of CD4(+) and CD8(+) T lymphocytes in the lung and hilar lymph nodes were significantly increased by intrapulmonary immunization compared with those in the control group (P<0.01). These data suggest that intrapulmonary immunization with attenuated Mhp is effective in evoking local cellular and humoral immune responses in the respiratory tract. Intrapulmonary immunization with Mhp may be a promising route for defense against Mhp in pigs.

  17. Preoperative CT evaluation of adrenal glands in non-small cell bronchogenic carcinoma

    SciTech Connect

    Nielsen, M.E. Jr.; Heaston, D.K.; Dunnick, N.R.; Korobkin, M.

    1982-08-01

    Preoperative chest computed tomographic (CT) scans in 84 patients with biopsy-proven non-small cell bronchogenic carcinoma were reviewed. At least one adrenal gland was visualized in 70 of these. Evidence of a solid adrenal mass was present in 18 (14.5%) glands in 15 (21.4%) patients. Percutaneous needle aspiration under CT guidance confirmed metastatic malignancy in the four patients who were biopsied. Because the documented presence of adrenal metastases in non-small cell lung cancer makes surgical resection or local irradiation inappropriate, it is recommended that both adrenal glands in their entirety be specifically included whenever a staging chest CT examination is performed in patients with such tumors. Percutaneous needle biopsy for pathologic confirmation of the nature of solid adrenal masses discovered in this process is also useful.

  18. Sleeve resection and other bronchoplasties in the surgery of bronchogenic tumors.

    PubMed

    Keszler, P

    1986-01-01

    One-hundred and fifty-eight sleeve resections and other bronchoplasties were performed for bronchogenic tumors in the last 20 years. Carcinoma was the indication in 143 and other tumors in 15 cases. Histology and staging conditions are outlined. The importance of the intraoperative histological or cytological examination of the resection margin is emphasized. One-hundred and twenty operations were performed on the right and 38 on the left side. In 12 cases of semimalignant or benign tumors, bronchoplasty without lung resection was carried out. The use of a wedge bronchoplasty instead of the customary sleeve resection is discussed. Right lower sleeve lobectomy with replantation of the middle lobe is described. Mortality was 6.3%. Fifty-six patients were alive more than five years later (35.4%). Forty-six of them were operated upon for carcinoma which corresponds to a 32% five years survival.

  19. Congenital Hypothyroidism

    MedlinePlus

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

  20. Congenital Hypothyroidism

    MedlinePlus

    ... 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 ...

  1. Simple mechanical thrombectomy with intrapulmonary arterial thrombolysis in pulmonary thromboembolism: a small case series

    PubMed Central

    Ahmed, Khurshid; Munawar, Muhammad; Andina Munawar, Dian; Hartono, Beny

    2014-01-01

    Pulmonary thromboembolism (PTE) is a life-threatening condition with a high early mortality rate caused by acute right ventricular failure and cardiogenic shock. We report a series of three patients who presented with acute and subacute submassive PTE. They were successfully treated by simple catheter-based mechanical thrombectomy and intrapulmonary arterial thrombolysis. Mechanical fragmentation and aspiration of thrombus was performed by commonly used J-wire, multi-purpose and Judkin Right guiding catheters and this obviated the need of specific thrombectomy devices. PMID:25593584

  2. Congenital hemangiomas.

    PubMed

    Boull, Christina; Maguiness, Sheilagh M

    2016-09-01

    Congenital hemangiomas are rare solitary vascular tumors that do not proliferate after birth. They are characterized as either rapidly involuting congenital hemangiomas (RICHs) or noninvoluting congenital hemangiomas (NICHs) based on their clinical progression. NICHs have no associated complications, but are persistent. RICH, while usually asymptomatic, may ulcerate or bleed early in their presentation, but involute quickly during the first few months of life. Hepatic RICHs are not associated with cutaneous RICHs, but may result in high-output cardiac failure due to arteriovenous or portovenous shunting. In the following review, the clinical characteristics and current management specific to congenital hemangiomas is discussed.

  3. Ventilatory and intrapulmonary chemoreceptor sensitivity to CO2 in the burrowing owl.

    PubMed

    Kilgore, D L; Faraci, F M; Fedde, M R

    1985-12-01

    We measured the ventilatory response of anesthetized, unidirectionally ventilated pigeons and burrowing owls to changes in intrapulmonary CO2 concentration and the static CO2 sensitivity of intrapulmonary chemoreceptors (IPC) in these species and the domestic goose. Compared with pigeons, burrowing owls showed a significantly reduced respiratory frequency and amplitude response to increases in FICO2 from 0.05 to 0.10, which corroborates similar findings in intact, awake individuals of the same species. The average static CO2 sensitivity of IPC in geese, pigeons, and burrowing owls, as reflected by the average slope of the linear regressions of receptor discharge frequency on ln(PICO2), was -7.96, -11.1 and -6.87 imp/sec . ln(PICO2), respectively. The sensitivities of individual receptors were normally distributed in geese and pigeons, but skewed in burrowing owls. Therefore, the median CO2 sensitivity [-5.50 imp/sec . ln(PICO2)] is a more appropriate measure of the typical CO2 sensitivity of IPC in burrowing owls. The static CO2 sensitivity of IPC in burrowing owls is the lowest reported for euthermic birds with a normal acid-base balance and may materially contribute to the blunted ventilatory response of these birds to the elevated CO2 levels they encounter in nature.

  4. Intrapulmonary receptors in the Tegu lizard: II. Functional characteristics and localization;.

    PubMed

    Scheid, P; Kuhlmann, W D; Fedde, M R

    1977-02-01

    Intrapulmonary receptors identified in the Tegu lizard by single-unit vagal recording (Fedde et al., 1977) were subjected to a number of stimuli and localized within the lung. Some carbon dioxide receptors could follow periodic changes in intrapulmonary CO2 concentrations as rapidly as 1.3 Hz; No oxygen sensitivity was observed with this receptor type, and halothane markedly depressed the discharge frequency. In response to intravenously injected acetazolamide they increased their discharge frequency and became almost totally insensitive to CO2, suggesting molecular per se is not the direct controller of receptor discharge; These receptors show many of the functional characteristics described for those in the avian lung. Afferent activity from both CO2 and mechanoreceptors could be elicited by electrically stimulating the lung surface. The CO2 receptors appeared to be organized in a receptive field covering more than 1 cm2 of lung surface, multiple receptors being innervated by a single afferent fiber. Activity in afferent fibers from mechanoreceptors could be evoked from only one distinct spot on the lung surface. Conduction velocities of afferent fibers from CO2 receptors ranged from 1 to 3 m-sec-1; from mechanoreceptors, from 1.9 to 5.2 m-sec-1.

  5. Class I major histocompatibility complex antigens and tumor ploidy in breast and bronchogenic carcinomas.

    PubMed

    Redondo, M; Concha, A; Ruiz-Cabello, F; Morell, M; Esteban, F; Talavera, P; Garrido, F

    1997-01-01

    We determined the frequency of expression of the major histocompatibility complex antigens HLA-A,B,C in tumor cells from 207 primary tumor lesions of breast and bronchogenic carcinomas, to see if the expression of theses antigens was linked with several clinicopathological parameters associated with tumor aggressivity, such as abnormal cellular DNA content. We compared tumor tissues with nonneoplastic tissues and tissues from 15 benign breast lesions. HLA class I expressor and nonexpressor tumor cells were determined by using immunohistochemical stains (PAP and APAAP methods) and antibodies against these antigens. Reduction of HLA class I antigen was detected in 65 tumors (31.7%) and was significantly associated with poor tumor differentiation and abnormal cellular DNA content (p < 0.001). These characteristics might define a group of aggressive tumors in which the decrease of HLA class I antigens would enable tumor cells to avoid eliciting host immune responses. On the other hand, the altered regulatory mechanisms, of tumors with abnormal cellular DNA content, might modulate the expression of HLA class I molecules.

  6. [Bronchogenic cancer at the Hospital General de México. A study of 2 decades].

    PubMed

    Ramírez, E; Cicero, R; Zúñiga, G; Novelo, V; Navarro, F; Casanova, J M

    1995-01-01

    Among 1,855 thoracic neoplasms seen from 1971 to 1990, there were 923 with bronchogenic carcinoma (CaBr), 50%. The relation male:female was 1.95:1. Sixty three period thirty one percent were male. The histologic type were epidermoid 32.2%, adenocarcinoma 28.4% and small cells 13.2% in men; in women adenocarcinoma 38.9%, epidermoid 28.9% and mixed 7.7% with a significative difference for both sexes for these neoplasms. Other types were less frequent. There is significative difference between smokers and non smokers of both sexes p < 0.001. Epidermoid, adenocarcinoma, small cells, large cells and mixed were the most frequent in male smokers, in women these varieties were more frequent in nonsmokers. Comparison with the reference group with no CaBr suggests that epidermoid, adenocarcinoma and small cells carcinomas have a great possibility to be found in male smokers. Ninety two period two percent of cases were stage III (Tumor Node MetastasIs) with no chance for radical treatment. Only 94 were subject to surgery with 36 total resections. CaBr is an important problem in the General Hospital of Mexico. Antismoking programmes must be stressed in relation to the frequency of CaBr in smokers.

  7. The Mayo Lung Project for early detection and localization of bronchogenic carcinoma: a status report.

    PubMed

    Fontana, R S; Sanderson, D R; Woolner, L B; Miller, W E; Bernatz, P E; Payne, W S; Taylor, W F

    1975-05-01

    The Mayo Lung Project (MLP) is a screening program designed to detect bronchogenic carcinoma at a curable stage. Screening tests include chest roentgenograms, three-day "pooled" sputum cytology studies, and lung-health questionnaires. These are being applied every four months to a study population of outpatients who have a high probability of developing lung cancer. Initial patient acceptance of the screening program has been excellent. Small asymptomatic lung cancers have been detected both roentgenographically and cytologically. The two procedures have complemented each other with little overlap. Chest roentgenography has proved most useful in diagnosing peripherally situated cancers, whereas sputum cytology studies have been most effective in identifying early squamous cancer involving major airways. At present, more cancers have been detected roentgenographically than cytologically, but the cytologically detected cases appear to have a better prognosis. Roentgenographically occult cancers have been localized with regularity, although the localization process is complicated. Theoretically, vigorous application of radiologic and cytologic screening, combined with optimum use of localizing procedures and treatment, could increase the five-year survival rate among lung cancer patients to nearly 50 percent. However, the actual survivorship attained will ultimately be determined by currently imponderable factors such as patient acceptance of longterm screening, frequency of multicentric respiratory cancers, and incidence of noncancerous smoking-related diseases, especially chronic obstructive pulmonary disease and ischemic heart disease.

  8. [Inflammatory pseudopapilloma after recurring aspiration of fruit stones as rare differential diagnosis of bronchogenic cancer].

    PubMed

    Walther, J W; Kollmeier, J; De Zeeuw, J; Orth, M; Wiethege, A; Müller, K M; Schultze-Werninghaus, G; Rasche, K

    2002-07-01

    We present the case of a 51-year old man with drug-resistant pneumonia in the upper right lobe, weight loss and a 50-pack year history of cigarette smoking who underwent bronchoscopy. By clinical and radiological findings bronchogenic cancer was assumed. Fiberbronchoscopy showed an exophytic tumor-like mass obliterating the right upper lobe. Biopsies revealed an epithelial pseudopapillomatous tumor with multiple mucosal dysplasia and metaplasia. A second bronchoscopy in order to remove the lesion revealed a foreign body embedded in the tissue which could be removed easily. The foreign body proved to be a cherry stone, after its removal pneumonia resolved completely. In the same patient this lesion was recurrent one year later after aspiration of a grape seed. We present this case to emphasize the relationship between foreign body aspiration and inflammatory pseudopapilloma as a sequela of the inflammatory insult provoked by foreign bodies. Bronchoscopy is mandatory and may obviate misdiagnosis and thoracotomy. The use of inhaled and systemic steroids can be used to facilitate successful endoscopic extraction.

  9. Prediction of Susceptibility to Acute Mountain Sickness Using Hypoxia-Induced Intrapulmonary Arteriovenous Shunt and Intracardiac Shunt Fractions

    DTIC Science & Technology

    2012-10-31

    proposed that greater degrees of intrapulmonary and intracardiac shunting (through patent foramen ovale (PFO)) are responsible for the greater degree of...determine the characteristics of a patent foramen ovale predicts that subjects who demonstrate intracardiac shunting without performing a Valsalva...susceptible. Using saline contrast echocardiography to detect the presence and characteristics of a patent foramen ovale , can predict AMS

  10. Congenital mid-line cervical cleft: case report and review of literature.

    PubMed

    Mlynarek, A; Hagr, A; Tewfik, T L; Nguyen, V H

    2003-11-01

    Congenital Mid-line Cervical Cleft (CMCC) is a rare but interesting congenital anomaly of the neck that is frequently misdiagnosed. Much controversy exist regarding its aetiology. Embryologically, the occurrence of CMCC is thought to be due to many hypotheses that include impaired mid-line fusion of the first or second branchial arches, exteriorisation of a thyroglossal duct remnant, and or increased pressure in the cervical area from the pericardial roof in the developing embryo. Histologically, the cleft usually consists of a stratified keratinized squamous epithelium with hyperkeratosis, dermal fibrosis and little or no skin appendages. Associated clinical features could include thyroglossal duct cysts, cleft lip/mandible/sternum, cervical contractures, mandibular spurs, microgenia and or bronchogenic cysts. In this article we present a patient with CMCC. An extensive review of the literature is also included.

  11. Intrapulmonary schwannoma diagnosed with endobronchial ultrasound-guided transbronchial needle aspiration: case report.

    PubMed

    Watanabe, Keisuke; Shinkai, Masaharu; Shinoda, Masahiro; Ishigatsubo, Yoshiaki; Kaneko, Takeshi

    2014-11-01

    A 47-year-old woman was referred to our hospital for further examination of a lung tumor. CT of the chest revealed a round, well-defined 2.4-cm nodule in S2, adjacent to right superior lobe bronchus. Endobronchial ultrasonography showed a well-defined, hypoechoic tumor with echogenic capsule and posterior acoustic enhancement. Diagnosis of schwannoma was confirmed from the specimen obtained by endobronchial ultrasound-guided transbronchial needle aspiration. She underwent tumorectomy due to the possibility of obstructive pneumonia. Pathology diagnosis from the surgical specimen was also schwannoma. Endobronchial ultrasound-guided transbronchial needle aspiration and findings with endobronchial ultrasonography might be helpful in the diagnosis of intrapulmonary schwannoma. Copyright © 2013 SEPAR. Published by Elsevier Espana. All rights reserved.

  12. [Congenital thrombophilia].

    PubMed

    Kojima, Tetsuhito

    2016-03-01

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

  13. Congenital cytomegalovirus

    MedlinePlus

    ... Churchill Livingstone; 2014:chap 140. Swanson EC. Congenital cytomegalovirus infection: new prospects for prevention and therapy. Pediatr Clin ... and the A.D.A.M. Editorial team. Cytomegalovirus Infections Read more Latest Health News Read more Health ...

  14. Congenital cataract

    MedlinePlus

    ... Congenital and inherited cataracts. In: Tasman W, Jaeger EA, eds. Duane's Ophthalmology . 16th ed. Philadelphia, PA: Lippincott ... Cataracts and systemic disease. In: Tasman W, Jaeger EA, eds. Duane's Ophthalmology . 16th ed. Philadelphia, PA: Lippincott ...

  15. Congenital syphilis

    MedlinePlus

    Congenital lues; Fetal syphilis ... which is passed from mother to child during fetal development or at birth. Nearly half of all ... Saunders; 2014:chap 143. Duff P. Maternal and fetal infections. In: Creasy RK, Resnik R, Iams JD, ...

  16. Congenital Abnormalities

    MedlinePlus

    ... while you are pregnant. Combination of Genetic and Environmental Problems Some congenital abnormalities may occur if there is a genetic tendency for the condition combined with exposure to certain environmental influences within the womb during critical stages of ...

  17. Congenital ptosis.

    PubMed

    SooHoo, Jeffrey R; Davies, Brett W; Allard, Felicia D; Durairaj, Vikram D

    2014-01-01

    Congenital blepharoptosis presents within the first year of life either in isolation or as a part of many different ocular or systemic disorders. Surgical repair is challenging, and recurrence necessitating more than one operation is not uncommon. Not all patients with congenital ptosis require surgery, but children with amblyopia due to astigmatic anisometropia or deprivation may benefit from early surgical correction. A variety of surgical procedures to correct congenital ptosis have been described. The choice of procedure depends on a number of patient-specific factors, such as degree of ptosis and levator function, as well as surgeon preference and resource availability. We review the genetics, associated syndromes, and surgical treatments of congenital ptosis. Copyright © 2014 Elsevier Inc. All rights reserved.

  18. [Congenital diarrhoea].

    PubMed

    Buda, Piotr; Friedman-Gruszczyńska, Joanna; Książyk, Janusz

    2011-01-01

    Congenital diarrhoea of heterogenic etiology is a rare cause of chronic diarrhoea. Characteristic features are: onset in the first weeks of life, life-threatening severe dehydratation and electrolyte disorders leading to a necessity of long-term parenteral nutrition. The clinical onset may be delayed and the degree of diarrhoea may be modest, making the diagnosis difficult. The main causes of congenital diarrhoea such as intestine electrolytes, carbohydrates, lipid and protein transport disorders and congenital enzymatic deficiencies, enterocyte polarization disorders, hormonal, immunological, metabolic, genetic and congenital anatomic disorders are presented in the paper. Some of them, such as: microvillus inclusion disease, tufting enteropathy, intestinal anedocrynosis, IPEX syndrome (immunodysregulation polyendocrinopathy enteropathy X-linked syndrome) have been described recently. One of the basic investigations, when congenital diarrhea is suspected, is general examination of the stool, its electrolyte concentration and serum electrolytes and blood gas analysis. Often, small bowel biopsy with histological examination (with the use of electronic microscopy and PAS staining) is indicated. In some cases molecular examination is possible and indicated. In differential diagnosis other, more frequent causes of chronic diarrhea of infancy, have to be excluded. In most of the cases of congenital diarrhoea there is no casual treatment available - usually long-term parenteral nutrition is necessary.

  19. Prenatal presentation and postnatal management of congenital thoracic malformations.

    PubMed

    Bush, Andrew

    2009-11-01

    The antenatal finding of a congenital thoracic malformation (CTM) leads to anxiety in the parents and uncertainty as to the optimal management. The antenatal spectrum of CTM includes congenital cystic adenomatoid malformation, sequestration, congenital lobar emphysema, enteric and bronchogenic cysts, and bronchial atresia. Most lesions require no antenatal intervention, and shrink substantially in the third trimester, but if fetal hydrops develops, then antenatal intervention is required, occasionally medical but more usually surgical, because mortality is high. If the baby is symptomatic in the newborn period, then some form of surgical intervention is clearly required. The asymptomatic baby presents a therapeutic dilemma. Advocates of early surgery point to the complications of CTM, which include infection, pneumothorax, bleeding and malignant transformation. Those who are proponents of conservative management retort that some CTM disappear postnatally, and that the complication rate is unknown; many children appear never to need surgery. Furthermore, there is clearcut evidence that excision of a CTM does not totally eliminate the risk of a subsequent malignancy. It is clear that, both antenatally and postnatally, counselling of the family on a case by case basis is needed. The limitations of present evidence should be stressed. Different families will make different decisions about postnatal surgery in an asymptomatic baby. If surgery is performed, morbidity is low, particularly with a video-assisted thoracoscopic (VATS) procedure.

  20. The surgical management and outcome of congenital mediastinal malformations

    PubMed Central

    Ballouhey, Quentin; Galinier, Philippe; Abbo, Olivier; Andrieu, Guillaume; Baunin, Christiane; Sartor, Agnès; Rittié, Jean Luc; Léobon, Bertrand

    2012-01-01

    We reviewed our institutional experience with congenital mediastinal masses and compared the postnatal management and outcome of patients with or without prenatal diagnosis. Between January 1997 and August 2011, 24 patients underwent surgical procedures for congenital mediastinal mass. For eight patients, the mass was detected by prenatal ultrasonography at 27 weeks of gestation (range 22–35). Postnatal management consisted in open surgery for seven patients at a mean age of 9 months (range 1 day–20 months) and sclerotherapy for one lymphangioma at 5 months of life. Sixteen patients had postnatal diagnosis at 137 months (±194) of median age. Eight bronchogenic cysts, seven bronchopulmonary foregut malformations, five teratomas, three lymphangiomas and one haemangioma were operated on. The median age at resection was 28 months (1 day–15 years). There were four emergency procedures and no surgical mortality. The median follow-up was 45 months (3–144). The duration of mechanical ventilation and hospital stay was, respectively, 4.6 h and 7.5 days for antenatal patients and 24.3 h and 14.3 days for postnatal diagnosed patients. Prenatal diagnosis allows early management of congenital mediastinal malformations. Early resection can be performed prior to the occurrence of symptoms ∼1 year of life and is associated with an excellent outcome and less morbidity. PMID:22394988

  1. Case series: variations in the embryology of congenital midline cervical clefts.

    PubMed

    Mendis, D; Moss, A L H

    2007-01-01

    Congenital midline cervical clefts (CMCC) is a clinical diagnosis and represents a spectrum of rare developmental anomalies. Fewer than 100 cases have been reported overall, the first being described by Bailey in 1924 (1). It is not a true cleft because it does not include a gap between adjacent skin flaps. It is thought to represent a failure of midline fusion of the branchial arches although this is controversial. It is a clinical diagnosis and presents at birth with a ventral midline defect of the skin of the neck. This consists of a skin tag (nipple-like projection), an atrophic mucosal surface and a caudal sinus. It may be associated with a subcutaneous fibrous cord, which can cause a vertical midline tethering restricting cervical extension. Associated defects may be a median cleft of the mandible, tongue and lower lip. There may be an associated delay in mandibular development and hypoplasia or absence of neck structures such as the hyoid bone. Associated thyroglossal and bronchogenic cysts may occur as well as defects in other parts of the body such as a sternal cleft (2). CMCC has been previously reported in the literature as being of a branchial origin, however a review of the histology of previous cases suggests a combined branchial and bronchogenic component (2-6). We report on two cases that presented with the clinical picture of a classical CMCC. Our first case appears to have a bronchogenic origin with possible branchial components and the second case appears to be solely branchial in origin. There is much debate as to the embryology of this clinical entity; we shall endeavour to address the main theories.

  2. Case report: a 37-year-old male with telangiectasias, polycythemia vera, perinephric fluid collections, and intrapulmonary shunting.

    PubMed

    Khan, Javed; Sykes, David B

    2014-01-01

    The TEMPI syndrome was recently described in 2011, and is characterized by the constellation of five hallmarks: Telangiectasias, Erythrocytosis and elevated Erythropoietin, Monoclonal gammopathy, Perinephric fluids collections, and Intrapulmonary shunting. The underlying pathophysiology is unknown, though it has been postulated that the monoclonal gammopathy may play a causal role. A 37-year-old non-smoking male presented to our institution with a fever and the sensation of fullness in the right flank. His exam was notable for telangiectasias, clubbing of the fingernails, plethora, and a palpable bulge in the right flank. Renal ultrasound demonstrated bilateral perinephric fluid collections. Laboratory evaluation revealed erythrocytosis with low serum erythropoietin, and testing for the JAK2V617F mutation was positive, confirming a diagnosis of polycythemia vera. Though his room air saturation was normal at rest, it decreased dramatically with exercise, felt to be secondary to microscopic intrapulmonary shunting. The patient's presentation is very similar to that of the TEMPI syndrome, a very rare syndrome of which there have been six published cases. In contrast to the TEMPI syndrome where the erythrocytosis is driven by highly elevated serum erythropoietin, our patient was found to have polycythemia vera. Also in contrast to the other patients with TEMPI syndrome, our patient did not have an identifiable monoclonal gammopathy. Our patient responded to treatment with hydroxyurea. His erythrocytosis, perinephric fluid collections, and telangiectasias resolved over the course of six months. The intrapulmonary shunting has continued to gradually improve with treatment, suggesting that this is an entirely reversible process. Our case is the first to describe the combination of polycythemia vera, telangiectasias, perinephric fluid collections, and intrapulmonary shunting. The presentation is highly similar to the previously described TEMPI syndrome, though calls into

  3. Changes in the biophysical properties and ultrastructure of lungs, and intrapulmonary fibrin deposition in experimental acute pancreatitis.

    PubMed Central

    Berry, A R; Davies, G C; Millar, A M; Taylor, T V

    1983-01-01

    Using an experimental model of acute pancreatitis in the rat, we have studied changes in the biophysical properties of lungs and intrapulmonary fibrin deposition in this condition. Acute pancreatitis is associated with a significant decrease in pulmonary compliance (p less than 0.01) and a significant increase in lung weight (p less than 0.01) compared with a control sham operation group. These changes are associated with a 24% increase in intrapulmonary 125I fibrinogen deposition (p less than 0.01), and an 18% increase in 125I fibrinogen deposition per gram of lung tissue (p less than 0.05) in acute pancreatitis, compared with a control sham operation group. The increased fibrinogen deposition is abolished by treatment with low dose heparin. Using the same animal model changes in pulmonary ultrastructure are shown using scanning electron microscopy. The results indicate that pulmonary abnormalities are associated with intrapulmonary fibrin deposition in experimental acute pancreatitis and these findings may be relevant to the well described respiratory complications of the condition in man. Images Fig. 3 Fig. 4 Fig. 7 PMID:6618271

  4. Video-assisted thoracic surgery compared with posterolateral thoracotomy for mediastinal bronchogenic cysts in adult patients

    PubMed Central

    Guo, Chenglin; Mei, Jiandong; Liu, Chengwu; Deng, Senyi; Pu, Qiang; Lin, Feng

    2016-01-01

    Background Mediastinal bronchogenic cyst (MBC) is the most common primary cystic lesion of the mediastinum. This study aimed to investigate the efficacy and safety of video-assisted thoracic surgery (VATS) compared with posterolateral thoracotomy (PLT) for the treatment of MBCs in a large series. Methods Patients with MBCs who underwent surgical resection between August 2005 and December 2015 were identified from the electronic database of the Department of Thoracic Surgery, West China Hospital. The patient demographic characteristics, intraoperative findings, postoperative outcomes and follow-up information were reviewed and analyzed. Results A total of 99 patients underwent cystectomy were enrolled for the present study. Of those patients, 65 underwent VATS cystectomy (VATS group) and 34 underwent PLT cystectomy (PLT group) during the same period. The VATS group had shorter operative time than the PLT group (108.77±47.81 vs. 144.62±55.16, P=0.001), less intraoperative blood loss (median 20 vs. 100 mL, P<0.001), and less pleural drainage of the first three days after surgery (median 240 vs. 400 mL, P=0.002). In addition, the length of postoperative hospital stay and duration of chest drainage for the VATS group was also shorter than those of the PLT group (4.94±2.01 vs. 8.64±5.52 days, P=0.001; 2.52±1.29 vs. 3.71±1.55 days, P<0.001, respectively). No statistical significance was revealed among the two groups with regard to the maximum diameter of the cysts, pleural atresia, incomplete resection, surgery-related complications, duration of intensive care unit stay, and postoperative complications. Conclusions Both VATS and PLT are reliable approaches for the surgical resection of MBCs. The VATS approach is superior to PLT with shorter operative time, shorter duration of chest drainage, shorter postoperative hospital stay, less intraoperative blood loss, and less pleural drainage of the first three days after surgery. We conclude that VATS should be the

  5. [Congenital torticollis].

    PubMed

    Wicart, P

    2012-03-01

    Congenital torticollis is a very common postural deformity, characterized by a more or less severe retraction of sternocleidomastoid muscle. Any treatment, else that "good sense" counsels given to the parents, is indicated. The evolution is spontaneously favorable in the majority of cases before the age of one year old. The elimination of differential diagnosis (vertebral and/or neurological malformations, ocular, tumor) is the key-point. Screening of congenital hip dislocation is mandatory because the physiopathology is the same in both diseases. A remaining torticolis after 18 months of age may be an indication to sternocleidomastoid muscle lengthening.

  6. Congenital midline cervical cleft: A retrospective case series of 8 children.

    PubMed

    Achard, Sophie; Leroy, Xavier; Fayoux, Pierre

    2016-02-01

    Congenital midline cervical cleft is a rare developmental abnormality of the ventral neck of unclear etiology. It consists of a midline skin defect. This study reports a case series of 8 patients with congenital midline cervical cleft. Retrospective review chart including all children referred with congenital midline cervical cleft over 5 years in tertiary center. The study was conducted to determine the presence of associated malformations, to specify the cleft pathology, to analyze the nature of associated cysts, and to discuss surgical procedure. Eight patients ranged from 3 days to 5 years. Two had an associated cervical midline cyst, 3 had a significant micrognatia. Pathological observations were in favor of a branchial origin. There was no recurrence of cervical contraction after a mean follow-up of 20 months. Congenital midline cervical cleft is a rare and generally isolated congenital malformation. It does not require either extensive assessment or specific genetic. Described associated cysts might be part of the cleft and not bronchogenic or thyroglossal cysts. Early surgical excision reduces cervical contracture, but linear or Z-plasty closure is still debated. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  7. Tracheomalacia - congenital

    MedlinePlus

    ... are floppy. Because the windpipe is the main airway, breathing difficulties begin soon after birth. Congenital tracheomalacia is very uncommon. Symptoms Symptoms can range from mild to severe, and may include: Breathing noises that may change with position and improve during ...

  8. Congenital Defects.

    ERIC Educational Resources Information Center

    Goldman, Allen S.; And Others

    There are two general categories (not necessarily mutually exclusive) of congenital defects: (1) abnormalities that have an hereditary basis, such as single and multiple genes, or chromosomal abberration; and (2) abnormalities that are caused by nonhereditary factors, such as malnutrition, maternal disease, radiation, infections, drugs, or…

  9. [Congenital epulis].

    PubMed

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

    2009-01-01

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

  10. Congenital amusias.

    PubMed

    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."

  11. Congenital Defects.

    ERIC Educational Resources Information Center

    Goldman, Allen S.; And Others

    There are two general categories (not necessarily mutually exclusive) of congenital defects: (1) abnormalities that have an hereditary basis, such as single and multiple genes, or chromosomal abberration; and (2) abnormalities that are caused by nonhereditary factors, such as malnutrition, maternal disease, radiation, infections, drugs, or…

  12. FISH analysis of intrapulmonary malignant mesothelioma without a clinically detectable primary pleural lesion: an autopsy case.

    PubMed

    Hasegawa, Mizue; Sakai, Fumikazu; Sato, Akitoshi; Tsubomizu, Sayuri; Arimura, Ken; Katsura, Hideki; Koh, Eitetsu; Sekine, Yasuo; Wu, Di; Hiroshima, Kenzo

    2014-12-01

    Patients with malignant mesothelioma typically present with a pleural effusion or pleural thickening and masses. A rare autopsy case of mesothelioma presenting with multiple bilateral lung nodules without clinically detectable pleural lesions is presented. A definitive diagnosis of the video-assisted thoracic surgery specimen could not be made, though a pattern of fibrosis mimicking organizing pneumonia was identified. Despite corticosteroid therapy, follow-up chest computed tomography showed enlargement of multiple nodules accompanied by the appearance of pleural thickening and effusions. The patient died of respiratory failure 11 months after initial presentation. Autopsy and retrospective analysis of the video-assisted thoracic surgery specimen using a p16 fluorescence in situ hybridization assay showed p16 homozygous deletion. The final diagnosis was sarcomatoid mesothelioma, and the lung nodules were intrapulmonary metastases from a clinically undetectable pleural sarcomatoid mesothelioma. It is important both to consider the possibility of mesothelioma with unusual clinical, radiological and pathological presentations and to remember that p16 fluorescence in situ hybridization analysis can play an important role in the diagnosis of mesothelioma.

  13. Effect of intrapulmonary hematocrit maldistribution on O2, CO2, and inert gas exchange.

    PubMed

    Young, I H; Wagner, P D

    1979-02-01

    The potential effect of intrapulmonary variations in hematocrit on gas exchange has been studied in theoretical models of the lung containing maldistribution of both hematocrit (Hct) and ventilation-perfusion (VA/Q) ratio. Hematocrit inequality enhanced gas exchange when units of low VA/Q were given a low Hct, arterial PO2 rising by as much as 14 Torr and PCO2 falling by up to 2 Torr depending on the particular distributions of Hct and VA/Q, whereas gas exchange was depressed when units of low VA/Q had a high Hct. After measuring inert gas solubilities in both dog and human blood of different Hct, the effect of Hct inequality on inert gas exchange was similarly assessed. Solubility was found to increase with HCT for less soluble gases. Because of this, conditions for enhancement of inert and O2 exchange by HCt inequality coincided, and it was found that in general the effects on O2 and inert gas transfer were quantitatively internally consistent. Even when Hct inequality was extreme, the resulting perturbation of inert gas concentrations was sufficiently small that the main features of the recovered VA/Q distributions were unaltered.

  14. Intrapulmonary vascular remodeling: MSCT-based evaluation in COPD and alpha-1 antitrypsin deficient subjects

    NASA Astrophysics Data System (ADS)

    Crosnier, Adeline; Fetita, Catalin; Thabut, Gabriel; Brillet, Pierre-Yves

    2016-03-01

    Whether COPD is generally known as a small airway disease, recent investigations suggest that vascular remodeling could play a key role in disease progression. This paper develops a specific investigation framework in order to evaluate the remodeling of the intrapulmonary vascular network and its correlation with other image or clinical parameters (emphysema score or FEV1) in patients with smoking- or genetic- (alpha-1 antitrypsin deficiency - AATD) related COPD. The developed approach evaluates the vessel caliber distribution per lung or lung region (upper, lower, 10%- and 20%- periphery) in relation with the severity of the disease and computes a remodeling marker given by the area under the caliber distribution curve for radii less than 1.6mm, AUC16. It exploits a medial axis analysis in relation with local caliber information computed in the segmented vascular network, with values normalized with respect to the lung volume (for which a robust segmentation is developed). The first results obtained on a 34-patient database (13 COPD, 13 AATD and 8 controls) showed significant vascular remodeling for COPD and AATD versus controls, with a negative correlation with the emphysema degree for COPD, but not for AATD. Significant vascular remodeling at 20% lung periphery was found both for the severe COPD and AATD patients, but not for the moderate groups. Also the vascular remodeling in AATD did not correlate with the FEV1, nor with DLCO, which might suggest independent mechanisms for bronchial and vascular remodeling in the lung.

  15. Comparison of intrapulmonary chemoreceptor response to PCO2 in the duck and chicken.

    PubMed

    Hempleman, S C; Burger, R E

    1985-08-01

    Intrapulmonary chemoreceptors (IPC) in the burrowing owl are reported to be much less sensitive to PCO2 than IPC in the chicken. This blunted IPC sensitivity has been suggested to be a physiological adaptation to hypercapnic subterranean environments. To investigate the natural variation IPC responses in non-burrowing species, stimulus-response characteristics of 87 IPC in 22 anesthetized Pekin ducks were recorded and compared to those from 54 previously reported chicken IPC. Average logarithmic stimulus response curves were described by slopes of - 11.2 and - 10.7 imp X (sec X InPCO2)-1 for duck and chicken, respectively. Each had slopes steeper than the - 6.87 imp X (sec X InPCO2)-1 slope reported for the burrowing owl. As with chicken IPC, slopes and intercepts of the individual curves were highly correlated in the duck. It appears that a general mechanism of receptor transduction exists in birds, with some quantitative interspecies variation.

  16. Mucoepidermoid carcinoma of the lung arising at the primary site of a bronchogenic cyst: clinical, cytogenetic, and molecular findings.

    PubMed

    Brassesco, María Sol; Valera, Elvis Terci; Lira, Régia Caroline Peixoto; Torres, Lídia Alice Gomes M; Scrideli, Carlos Alberto; Elias, Jorge; Teixeira, Sara Reis; Tone, Luiz Gonzaga

    2011-02-01

    Primary lung tumors are rare in children, and mucoepidermoid carcinoma (MEC) represents less than 10% of them. Additionally, MEC arising from bronchogenic cysts (BC) is particularly unusual. We describe the clinical and genetic findings on a MEC occurring within a previous location of a BC in an adolescent. This particular association has not been previously reported. The lesion revealed normal karyotype without the typical t(11;19)(q21;p13) translocation. Cyclin D1 overexpression (165-fold increase) was demonstrated by real-time PCR although FISH assessment showed normal hybridization at 11q13. Information on these unusual clinical presentations may present relevant insight on tumorigenesis of infrequent pediatric pulmonary tumors.

  17. Congenital scoliosis.

    PubMed

    Kose, Nusret; Campbell, Robert M

    2004-05-01

    The management of congenital scoliosis requires a systematic approach with careful attention to detail. Any fortuitous diagnosis of vertebral anomalies in infancy, even if there is no significant scoliosis at that time on x-ray, requires frequent clinical and radiographic follow-up to detect progression. The presence of associated anomalies of the spinal cord, the kidneys and the heart should be evaluated by MRI, renal ultrasound or IVP, with cardiology evaluation as indicated. Curve progression or severe vertebral anomalies known to cause curve progression require immediate treatment to prevent deformity. Significant thoracic deformity, especially in a patient with thoracic insufficiency syndrome, is best treated with expansion thoracoplasty. The patient with congenital scoliosis requires a long term commitment to care with frequent orthopaedic follow-up throughout the growing years along with routine pulmonary function assessment once the patient is able to cooperate with testing.

  18. [Congenital hydrocephalus].

    PubMed

    Malagón-Valdez, J

    2006-04-10

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

  19. [Congenital ranula].

    PubMed

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

    2010-01-01

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

  20. Congenital Hydrocephalus.

    PubMed

    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.

  1. [Congenital aniridia].

    PubMed

    Chiruţa, Daria; Stan, Cristina

    2014-01-01

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

  2. Relaxation of intrapulmonary artery and vein by nitrogen oxide-containing vasodilators and cyclic GMP

    SciTech Connect

    Edwards, J.C.; Ignarro, L.J.; Hyman, A.L.; Kadowitz, P.J.

    1984-01-01

    The present study examines the relationship between tissue cyclic nucleotide levels and relaxation of bovine intrapulmonary arterial and venous smooth muscle in response to nitroglycerin, nitroprusside, S-nitroso-N-acetylpenicillamine and isoproterenol. Recent studies have suggested that cyclic GMP may be involved in the relaxation of vascular smooth muscle produced by nitrogen oxide-containing vasodilators and that S-nitrosothiols may act as intermediates of the latter agents. In the present study, nitroglycerin, nitroprusside and S-nitroso-N-acetylpenicillamine were more potent as relaxants of venous than arterial segments. Each of these agents elevated tissue cyclic GMP levels, but not cyclic AMP levels, before relaxation. These nitrogen oxide-containing agents were more potent as elevators of cyclic GMP levels in venous than arterial tissue and this correlated generally with their effects on vascular smooth muscle tone. Methylene blue antagonized both relaxation and increased cyclic GMP levels elicited by nitroglycerin, nitroprusside and S-nitroso-N-acetylpenicillamine. In contrast to the nitrogen oxide vasodilators, 8-bromo-cyclic GMP was equally effective in reducing induced tone in arterial or venous segments. Similarly, isoproterenol relaxed arterial and venous segments with equivalent sensitivities. Relaxation by isoproterenol was preceded by or occurred concomitantly with increased levels of cyclic AMP but not cyclic GMP and both effects were antagonized by propranolol. These findings are consistent with the hypothesis that vascular smooth muscle relaxation in response to nitrogen oxide-containing vasodilators or isoproterenol may be mediated or modulated by the intracellular accumulation of cyclic GMP or cyclic AMP, respectively.

  3. Simulated Flow Pattern in Massive Pulmonary Embolism: Significance for Selective Intrapulmonary Thrombolysis

    SciTech Connect

    Schmitz-Rode, Thomas; Kilbinger, Markus; Guenther, Rolf W.

    1998-05-15

    Purpose: The flow pattern in the central pulmonary arteries proximal to large pulmonary emboli was studied experimentally. The currents to which thrombolytic agents are exposed when administered via an intrapulmonary catheter were visualized in order to explain the lack of benefit of local versus systemic administration. Methods: By illumination of suspended microspheres, the flow pattern proximal to an obstructing embolus was visualized in an in vitro pulmonary arterial flow model. In six dogs massive pulmonary embolism was created. A pigtail catheter was positioned in the pulmonary artery immediately proximal to the central edge of the occluding embolus. To allow visualization of the local flow pattern, a small amount of contrast material (4 ml) was injected through the catheter at a high flow rate (25 ml/sec). The course of the radiopaque spot that emerged from the catheter tip within 160 msec was monitored with digital subtraction angiography at a frame rate of 12.5 frames/sec. In two dogs, the study was repeated after embolus fragmentation with the same catheter position. Results: The flow model study revealed formation of a vortex proximal to the occluding embolus. In vivo experiments showed that the radiopaque spot was whirled by the vortex proximal to the embolus and made only evanescent contact with the edge of the embolus. Regardless of the embolus location, the contrast spot was washed into the non-occluded ipsilateral and contralateral pulmonary arteries within 0.40-0.64 sec. After embolus fragmentation, the contrast spot was carried completely into the formerly occluded artery. Conclusion: Flow studies explain why thrombolytic agents administered via a catheter positioned adjacent to the embolus may have no more effect than systemically administered agents. An enhanced local effect is precluded by the rapid washout into the non-occluded pulmonary arteries and subsequent systemic dilution. These results support the practice of direct intrathrombic

  4. Exercise- and hypoxia-induced blood flow through intrapulmonary arteriovenous anastomoses is reduced in older adults.

    PubMed

    Norris, H Cameron; Mangum, Tyler S; Duke, Joseph W; Straley, Taylor B; Hawn, Jerold A; Goodman, Randy D; Lovering, Andrew T

    2014-05-15

    Mean pulmonary arterial pressure (Ppa) during exercise is significantly higher in individuals aged ≥50 yr compared with their younger counterparts, but the reasons for this are unknown. Blood flow through intrapulmonary arteriovenous anastomoses (IPAVA) can be detected during exercise or while breathing hypoxic gas mixtures using saline contrast echocardiography in almost all healthy young individuals. It has been previously hypothesized that a lower degree of exercise-induced blood flow through IPAVA is associated with high Ppa during exercise. This association may suggest that individuals who are known to have high Ppa during exercise, such as those ≥50 yr of age, may have lower blood flow through IPAVA, but the presence and degree of exercise-induced blood flow through IPAVA has not been specifically studied in older populations. Using transthoracic saline contrast echocardiography, we investigated the potential effects of age on exercise-induced blood flow through IPAVA in a cross-section of subjects aged 19-72 yr. To verify our findings, we assessed the effects of age on hypoxia-induced blood flow through IPAVA. Age groups were ≤41 yr (younger, n = 16) and ≥50 yr (older, n = 14). Qualitatively measured exercise- and hypoxia-induced blood flow through IPAVA was significantly lower in older individuals compared with younger controls. Older individuals also had significantly higher pulmonary arterial systolic pressure and total pulmonary resistance (TPR) during exercise. Low blood flow through IPAVA was independently associated with high TPR. The reasons for the age-related decrease in blood flow through IPAVA are unknown. Copyright © 2014 the American Physiological Society.

  5. Efficacy of short-term intrapulmonary percussive ventilation in patients with chronic obstructive pulmonary disease.

    PubMed

    Testa, Amidio; Galeri, Silvia; Villafañe, Jorge Hugo; Corbellini, Camilo; Pillastrini, Paolo; Negrini, Stefano

    2015-01-01

    We evaluated the effectiveness of intrapulmonary percussive ventilation (IPV) compared to traditional standard chest physical therapy (CPT) in patients with chronic obstructive pulmonary disease (COPD) and productive cough. We conducted a quasi-experimental clinical trial. Twenty patients, 40% female (mean ± SD age: 70 ± 8 years), with COPD and productive cough received a multimodal respiratory treatment including IPV and CPT or a control intervention CPT for 10 days. PImax, PEmax, heart rate, respiratory rate, SBP, DBP, Likert scale, Borg dyspnea scale and arterial blood gas analysis: PO2, PCO2, pH, HCO3 and SpO2 measurements. All measures were collected at baseline and at the end of the intervention. We used repeated ANOVA to examine the effects of interventions within groups, between-subjects and the within-subjects. A significant effect of time interaction (F = 7.27; p = 0.015, F = 6.16; p = 0.02 and F = 7.41; p = 0.014) existed for PO2, SpO2 and dyspnea over the moderate COPD and productive cough immediately after the intervention (all, p < 0.02). Both treatments are similarly effective in PImax and PEmax. No significant group effect or group-by-time interaction was detected for any of them, which suggests that both groups improved in the same way. This study provides evidence that a short-term combination of IPV and CPT improves PO2, SpO2 and perceived dyspnea than a traditional standard CPT in patients with COPD and productive cough.

  6. Positive intrapulmonary oncotic pressure enhances short-term lung growth acceleration after fetal tracheal occlusion.

    PubMed

    Dzakovic, Alexander; Kaviani, Amir; Jennings, Russell W; Wilson, Jay M; Fauza, Dario O

    2002-07-01

    This study was aimed at determining whether positive oncotic pressure induced in the fetal lung liquid could safely maximize accelerated lung growth after tracheal occlusion. Fetal lambs (n = 21) were divided into 4 groups: group I (n = 5) consisted of sham-operated controls; group II (n = 5) underwent simple tracheal occlusion (TO); group III (n = 5) received TO and 60 mL of saline injected into the trachea; and group IV (n = 6) underwent TO and intratracheal infusion of 60 mL of iso-osmotic, 6% Dextran 70. All fetuses were delivered near term, at a mean of 15.9 +/- 1 days postoperatively. Their lungs were studied by standard morphometric techniques, and the basic chemical profile of the lung liquid was analyzed. Statistical comparisons were by 1-way analysis of variance (ANOVA) and post-hoc analyses by the Bonferroni correction for multiple comparisons, with P values less than.05 considered significant. The lung volume-to-body-weight ratio (LV:BW) was significantly different among groups. Pairwise comparisons of LV:BW showed that it was higher in group IV than in all other groups, but there was no difference between groups II and III. Airspace fraction was not significantly different among groups, and histologic appearance was normal in all lung samples. There were no differences in lung liquid osmolarity, pH level, and electrolyte concentrations. Positive intrapulmonary oncotic pressure by an isosmotic agent boosts short-term lung growth acceleration after fetal tracheal occlusion with no evidence of cell damage. Copyright 2002, Elsevier Science (USA). All rights reserved.

  7. Effect of engineered nanoparticles on vasomotor responses in rat intrapulmonary artery

    SciTech Connect

    Courtois, Arnaud; Andujar, Pascal; Ladeiro, Yannick; Ducret, Thomas; Rogerieux, Francoise; Lacroix, Ghislaine; Baudrimont, Isabelle; Guibert, Christelle; Roux, Etienne; Canal-Raffin, Mireille; Brochard, Patrick; Marano, Francelyne; Marthan, Roger; Muller, Bernard

    2010-06-01

    Pulmonary circulation could be one of the primary vascular targets of finest particles that can deeply penetrate into the lungs after inhalation. We investigated the effects of engineered nanoparticles on vasomotor responses of small intrapulmonary arteries using isometric tension measurements. Acute in vitro exposure to carbon nanoparticles (CNP) decreased, and in some case abolished, the vasomotor responses induced by several vasoactive agents, whereas acute exposure to titanium dioxide nanoparticles (TiO{sub 2}NP) did not. This could be attributed to a decrease in the activity of those vasoactive agents (including PGF{sub 2{alpha}}, serotonin, endothelin-1 and acetylcholine), as suggested when they were exposed to CNP before being applied to arteries. Also, CNP decreased the contraction induced by 30 mM KCl, without decreasing its activity. After endoplasmic reticulum calcium stores depletion (by caffeine and thapsigargin), CaCl{sub 2} addition induced a contraction, dependent on Store-Operated Calcium Channels that was not modified by acute CNP exposure. Further addition of 30 mM KCl elicited a contraction, originating from activation of Voltage-Operated Calcium Channels that was diminished by CNP. Contractile responses to PGF{sub 2{alpha}} or KCl, and relaxation to acetylcholine were modified neither in pulmonary arteries exposed in vitro for prolonged time to CNP or TiO{sub 2}NP, nor in those removed from rats intratracheally instilled with CNP or TiO{sub 2}NP. In conclusion, prolonged in vitro or in vivo exposure to CNP or TiO{sub 2}NP does not affect vasomotor responses of pulmonary arteries. However, acute exposure to CNP decreases contraction mediated by activation of Voltage-Operated, but not Store-Operated, Calcium Channels. Moreover, interaction of some vasoactive agents with CNP decreases their biological activity that might lead to misinterpretation of experimental data.

  8. Micron-sized intrapulmonary particle deposition in the developing rat lung.

    PubMed

    Schulz, Holger; Eder, Gunter; Bolle, Ines; Tsuda, Akira; Karrasch, Stefan

    2012-03-01

    Little is known about the effects of postnatal developmental changes in lung architecture and breathing patterns on intrapulmonary particle deposition. We measured deposition in the developing Wistar-Kyoto rat, whose lung development largely parallels that of humans. Deposition of 2-μm sebacate particles was determined in anesthetized, intubated, spontaneously breathing rats on postnatal days (P) 7 to 90 by aerosol photometry (Karrasch S, Eder G, Bolle I, Tsuda A, Schulz H. J Appl Physiol 107: 1293-1299, 2009). Respiratory parameters were determined by body plethysmography. Tidal volume increased substantially from P7 (0.19 ml) to P90 (2.1 ml) while respiratory rate declined from 182 to 107/min. Breath-specific deposition was lowest (9%) at P7 and P90 and markedly higher at P35 (almost 16%). Structural changes of the alveolar region include a ninefold increase in surface area (Bolle I, Eder G, Takenaka S, Ganguly K, Karrasch S, Zeller C, Neuner M, Kreyling WG, Tsuda A, Schulz H. J Appl Physiol 104: 1167-1176, 2008). Particle deposition per unit of time and surface area peaked at P35 and showed a minimum at P90. At an inhaled particle number concentration of 10(5)/cm(3), there was an estimated 450, 690, and 330 particles/(min × cm(2)) at P7, P35, and P90, respectively. Multiple regression models showed that deposition depends on the mean linear intercept as structural component and the breathing parameters, tidal volume, and respiratory rate (r(2) > 0.9). In conclusion, micron-sized particle deposition was dependent on the stage of postnatal lung development. A maximum was observed during late alveolarization (P35), which corresponds to human lungs of about eight years of age. Children at this age may therefore be more susceptible to micron-sized airborne environmental health hazards.

  9. Temperature effects on CO2-sensitive intrapulmonary chemoreceptors in the lizard, Tupinambis nigropunctatus.

    PubMed

    Douse, M A; Mitchell, G S

    1988-06-01

    Body temperature (Tb) effects on CO2 responses of 17 intrapulmonary chemoreceptors (IPC) were investigated in 9 anesthetized (pentobarbital; 30 mg/kg) and unidirectionally ventilated tegu lizards (Tupinambis nigropunctatus). At 30 degrees C, all IPC (n = 15) had a stable discharge pattern. At 20 degrees C, IPC discharge (n = 14) was stable at high PCO2 but irregular at low PCO2 and often (10/14) consisted of bursts of activity separated by one or more seconds of quiescence. Responses of IPC to static and dynamic changes in PCO2 were quantified at both Tb and the discharge rate vs PCO2 response curves were compared. Static discharge frequency (fSTAT) decreased as PCO2 increased at both Tb. At 20 degrees C: (1) fSTAT was diminished at all PCO2 levels relative to 30 degrees C; and (2) the slope of the fSTAT vs PCO2 relationship was markedly attenuated. The Q10 was 3.7 +/- 0.5 and was independent of PCO2. The peak discharge associated with a step decrease in PCO2 (dynamic response; fDYN) also decreased as PCO2 increased. At 20 degrees C: (1) fDYN was diminished at all PCO2 levels relative to 30 degrees C; but (2) the slope of the fDYN vs PCO2 relationship was similar at both Tb. The Q10 was 2.6 +/- 0.3 and was significantly less than the Q10 of fSTAT (P less than 0.05). Acute changes in Tb exert large effects on the CO2 response and discharge pattern of IPC; these effects on IPC may be important in ventilatory control at different Tb in lizards.

  10. Regulation of Rat Intrapulmonary Arterial Tone by Arachidonic Acid and Prostaglandin E2 during Hypoxia

    PubMed Central

    Shi, Hui; Han, Yeshan; Ma, Genshan; Tang, Chengchun; Gu, Yuchun

    2013-01-01

    Aims Arachidonic acid (AA) and its metabolites, prostaglandins (PG) are known to be involved in regulation of vascular homeostasis including vascular tone and vessel wall tension, but their potential role in Hypoxic pulmonary vasoconstriction (HPV) remains unclear. In this study, we examined the effects of AA and PGE2 on the hypoxic response in isolated rat intrapulmonary arteries (IPAs). Methods and Results We carried out the investigation on IPAs by vessel tension measurement. Isotetrandrine (20 µM) significantly inhibited phase I, phase IIb and phase IIc of hypoxic vasoconstriction. Both indomethacin (100 µM) and NS398 attenuated KPSS-induced vessel contraction and phase I, phase IIb and phase IIc of HPV, implying that COX-2 plays a primary role in the hypoxic response of rat IPAs. PGE2 alone caused a significant vasoconstriction in isolated rat IPAs. This constriction is mediated by EP4. Blockage of EP4 by L-161982 (1 µM) significantly inhibited phase I, phase IIb and phase IIc of hypoxic vasoconstriction. However, AH6809 (3 µM), an antagonist of EP1, EP2, EP3 and DP1 receptors, exerted no effect on KPSS or hypoxia induced vessel contraction. Increase of cellular cAMP by forskolin could significantly reduce KPSS-induced vessel contraction and abolish phase I, phase II b and phase II c of HPV. Conclusion Our results demonstrated a vasoconstrictive effect of PGE2 on rat IPAs and this effect is via activation of EP4. Furthermore, our results suggest that intracellular cAMP plays dual roles in regulation of vascular tone, depending on the spatial distribution of cAMP and its coupling with EP receptor and Ca2+ channels. PMID:24013220

  11. Sequential assessment of pulmonary epithelial diethylene triamine penta-acetate clearance and intrapulmonary transferrin accumulation during Escherichia coli peritonitis

    SciTech Connect

    Ishizaka, A.; Stephens, K.E.; Segall, G.M.; Hatherill, J.R.; McDougall, I.R.; Wu, Z.; Raffin, T.A. )

    1990-03-01

    The individual roles of pulmonary capillary endothelial and alveolar epithelial permeability in the pathogenesis of the adult respiratory distress syndrome (ARDS) are unclear. We developed a method for the sequential assessment of pulmonary macromolecule accumulation and small solute clearance in vivo using a gamma camera. We measured the exponential clearance coefficient of 111In-labeled diethylene triamine penta-acetate (111In-DTPA) to assess airway clearance of small solutes. We also calculated the exponential equilibration coefficient of 111In-labeled transferrin (111In-TF) to assess intrapulmonary accumulation of transferrin. We determined these parameters in guinea pigs with Escherichia coli peritonitis and compared them with a saline-treated control group, oleic-acid-treated groups, and a group treated with low molecular weight dextran Ringer solution. The pulmonary DTPA clearance and the intrapulmonary transferrin accumulation were significantly increased in the peritonitis group (29.4 +/- 8.2 x 10(-3) min-1, p less than 0.02, and 15.1 +/- 3.1 x 10(-3) min-1, p less than 0.02) when compared with the control group (3.1 +/- 0.8 x 10(-3) min-1 and 4.5 +/- 0.5 x 10(-3) min-1). These changes developed within 5.5 h of the initial insult. Neither increased extravascular lung water nor elevated pulmonary artery and left atrial pressures were detected in the peritonitis group. The low molecular weight dextran Ringer group did not show a significant increase in the pulmonary DTPA clearance and the intrapulmonary transferrin accumulation.

  12. Congenital anomalies

    PubMed Central

    Kunisaki, Shaun M.

    2012-01-01

    Over the past decade, amniotic fluid-derived stem cells have emerged as a novel, experimental approach for the treatment of a wide variety of congenital anomalies diagnosed either in utero or postnatally. There are a number of unique properties of amniotic fluid stem cells that have allowed it to become a major research focus. These include the relative ease of accessing amniotic fluid cells in a minimally invasive fashion by amniocentesis as well as the relatively rich population of progenitor cells obtained from a small aliquot of fluid. Mesenchymal stem cells, c-kit positive stem cells, as well as induced pluripotent stem cells have all been derived from human amniotic fluid in recent years. This article gives a pediatric surgeon’s perspective on amniotic fluid stem cell therapy for the management of congenital anomalies. The current status in the use of amniotic fluid-derived stem cells, particularly as they relate as substrates in tissue engineering-based applications, is described in various animal models. A roadmap for further study and eventual clinical application is also proposed. PMID:22986340

  13. Congenital Toxoplasmosis

    PubMed Central

    McAuley, James B.

    2014-01-01

    Toxoplasmosis is caused by infection with the parasite Toxoplasma gondii. It is one of the most common parasitic infections in humans and is most typically asymptomatic. However, primary infection in a pregnant woman can cause severe and disabling disease in the developing fetus. Recent developments have included increased understanding of the role of parasite genotype in determining infectivity and disease severity. Risk factors for acquisition of infection have been better defined, and the important role of foodborne transmission has been further delineated. In addition, strategies have emerged to decrease mother-to-child transmission through prompt identification of acutely infected pregnant women followed by appropriate treatment. Refined diagnostic tools, particularly the addition of immunoglobulin G avidity testing, allow for more accurate timing of maternal infection and hence better decision making during pregnancy. Congenitally infected children can be treated, beginning in utero and continuing through the first year of life, to ameliorate the severity of disease. However, despite these many advances in our understanding of congenital toxoplasmosis prevention and treatment, significant areas of study remain: we need better drugs, well defined strategies for screening of pregnant women, improved food safety, and improved diagnostic tests. PMID:25232475

  14. Expression of the atrial natriuretic peptide gene in the cardiac muscle of rat extrapulmonary and intrapulmonary veins.

    PubMed Central

    Springall, D R; Bhatnagar, M; Wharton, J; Hamid, Q; Gulbenkian, S; Hedges, M; Meleagros, L; Bloom, S R; Polak, J M

    1988-01-01

    Atrial natriuretic peptide is a peptide regulating salt and water balance, originally isolated from the cardiac atrium, where it is synthesised as part of a precursor molecule in specialised myocardial cells. The myocardium extends into the extrapulmonary part of the pulmonary veins in many species, including man. In some small mammals, however, such as the rat, mouse, and bat, it extends further to veins in the peripheral parts of the lung. Since this myocardial layer is continuous with that in the atrium, we have looked for the possible expression of the atrial natriuretic peptide gene in this tissue in rats. Strong immunoreactivity was seen for both the peptide and the N terminal sequence (cardiodilatin) of its precursor in extrapulmonary veins and in intrapulmonary veins extending into the lung as far as the second branching point, where it was localised in the dense cored granules by electron microscopy; in situ hybridisation showed atrial natriuretic peptide messenger RNA at identical sites. Chromatography and radioimmunoassay of extracts of extrapulmonary and intrapulmonary veins showed most of the atrial natriuretic peptide immunoreactivity to be in the uncleaved (precursor molecule) form. Thus the peptide is synthesised in veins both outside and inside the lung, and these extra-atrial sites may be an important additional source of circulating atrial natriuretic peptide. Images PMID:2965426

  15. [New surgical approach "intrapulmonary septation technic" for Fontan candidates with unilateral pulmonary arterial hypoplasia and/or pulmonary venous obstruction].

    PubMed

    Sakamoto, K; Nishioka, M; Fujimoto, K; Ohta, N; Murata, M; Nakada, T; Sekine, Y; Yokota, M

    2003-04-01

    Unilateral pulmonary arterial hypoplasia and/or pulmonary venous obstruction are serious hazards for Fontan candidates. For these patients, we have started new surgical approach "intrapulmonary septation technic". This consists of 3 components; (A) partial right heart bypass to well-grown side, (B) mandatory pulmonary blood flow to low-capacity side, (aorto-pulmonary shunt or others) and (C) a patch between partial right heart bypass and mandatory pulmonary blood flow. Thirteen patients underwent the approach. The source of partial right heart bypass was brought from superior vena cava (11 patients), inferior vena cava (1 patient) and fenestrated Fontan (1 patient). The mandatory pulmonary blood flow was supplied by aorto-pulmonary shunt (11 patients), pulmonary arterial banding (1 patient) and native pulmonary valve stenosis (1 patient). We added pulmonary artery enlargement (9 patients), release of pulmonary venous obstruction (8 patients) and/or atrio-ventricular valve plasty (5 patients), simultaneously. No hospital death. Early post-operative course was uneventful in all cases except 1, as pulmonary blood flow to low-capacity side had increased gradually after this intervention. Eight patients had reached Fontan operation. In this approach, nearly whole pulmonary artery can grow without any affect of volume overload through well-grown side from collateral arteries of low-capacity side. All procedures of "intrapulmonary septation technic" and reconstruction of pulmonary artery in Fontan operation can be easily performed in larger pulmonary artery of well-grown side, eliminating need for extensive dissection.

  16. Assessment of the intrapulmonary ventilation-perfusion distribution after the Fontan procedure for complex cardiac anomalies: Relation to pulmonary hemodynamics

    SciTech Connect

    Matsushita, T.; Matsuda, H.; Ogawa, M.; Ohno, K.; Sano, T.; Nakano, S.; Shimazaki, Y.; Nakahara, K.; Arisawa, J.; Kozuka, T. )

    1990-03-15

    In 12 patients who underwent the Fontan procedure for complex cardiac anomalies, lung scanning with xenon-133 was performed to assess the intrapulmonary ventilation-perfusion distribution, and comparison was made with a control group. All data were then analyzed in relation to either pre- or postoperative pulmonary hemodynamic data. In ventilation scans, the intrapulmonary distribution in the right lung was almost normal. In perfusion scans, an abnormal increased upper to lower lobe perfusion ratio greater than the normal value found in the control group was noted in seven patients (58.3%). There was a significant correlation (p less than 0.02) between the upper to lower lobe perfusion ratio and postoperative pulmonary vascular resistance. Furthermore, this perfusion ratio correlated inversely with the preoperative (p less than 0.005) and postoperative (p less than 0.02) right pulmonary artery area index, defined as the ratio of cross-sectional area to the normal value. Of five patients with less than 90% arterial oxygen saturation, four showed an abnormal distribution of pulmonary blood flow greater than the normal perfusion ratio. No patient had evidence of a pulmonary arteriovenous fistula by the echocardiographic contrast study. These results suggest that abnormal distribution of pulmonary blood flow to the upper lung segment may develop in patients after the Fontan procedure, and that insufficient size of the pulmonary artery before operation and the consequent postoperative elevation of pulmonary vascular resistance may be responsible for this perfusion abnormality.

  17. Ultrastructure of nerve endings and synaptic junctions in rabbit intrapulmonary neuroepithelial bodies: a single and serial section analysis.

    PubMed Central

    Lauweryns, J M; Van Lommel, A

    1987-01-01

    This study on the innervation of rabbit intrapulmonary neuroepithelial bodies (NEB) was undertaken to obtain more information about the detailed ultrastructure of morphologically afferent and efferent intracorpuscular NEB nerve endings, the extent to which they are in cytoplasmic continuity with one another, and the structure of the synaptic junctions they form with the NEB corpuscular cells. As in earlier studies, NEB exhibit intracorpuscular nerve endings containing predominantly either mitochondria (morphologically afferent) or synaptic vesicles (morphologically efferent). Both types of nerve endings form synaptic junctions with the NEB corpuscular cells, arranged so that a NEB corpuscular cell is the presynaptic element and the nerve ending the postsynaptic element. This arrangement implies that NEB can transmit nerve impulses to the central nervous system, thus arguing in favour of their hypothetical neuroreceptor function. Moreover, on serial sections, the morphologically afferent and efferent intracorpuscular nerve endings are often found in cytoplasmic continuity. Hence, transduction of stimuli in the NEB implies concomitant efferent modulation of the NEB corpuscular cells. In conclusion, intrapulmonary NEB apparently function as neuroreceptors that are locally modulated by axon reflexes. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 6 (cont.) Fig. 6 (cont.) Fig. 6 PMID:3654362

  18. A program for calculation of intrapulmonary shunts, blood-gas and acid-base values with a programmable calculator.

    PubMed

    Ruiz, B C; Tucker, W K; Kirby, R R

    1975-01-01

    With a desk-top, programmable calculator, it is now possible to do complex, previously time-consuming computations in the blood-gas laboratory. The authors have developed a program with the necessary algorithms for temperature correction of blood gases and calculation of acid-base variables and intrapulmonary shunt. It was necessary to develop formulas for the Po2 temperature-correction coefficient, the oxyhemoglobin-dissociation curve for adults (withe necessary adjustments for fetal blood), and changes in water vapor pressure due to variation in body temperature. Using this program in conjuction with a Monroe 1860-21 statistical programmable calculator, it is possible to temperature-correct pH,Pco2, and Po2. The machine will compute alveolar-arterial oxygen tension gradient, oxygen saturation (So2), oxygen content (Co2), actual HCO minus 3 and a modified base excess. If arterial blood and mixed venous blood are obtained, the calculator will print out intrapulmonary shunt data (Qs/Qt) and arteriovenous oxygen differences (a minus vDo2). There also is a formula to compute P50 if pH,Pco2,Po2, and measured So2 from two samples of tonometered blood (one above 50 per cent and one below 50 per cent saturation) are put into the calculator.

  19. Efficacy and safety of intrapulmonary percussive ventilation superimposed on conventional ventilation in obese patients with compression atelectasis.

    PubMed

    Tsuruta, Ryosuke; Kasaoka, Shunji; Okabayashi, Kiyoshi; Maekawa, Tsuyoshi

    2006-12-01

    To investigate the efficacy and safety of intrapulmonary percussive ventilation (IPV) in obese patients, we assessed their respiratory and hemodynamic functions during IPV superimposed on conventional ventilation. Ten obese patients with acute respiratory failure due to compression atelectasis who had not improved by conventional ventilation were treated with IPV. Hemodynamic parameters, ventilator settings, and intracranial pressure (n = 1) were recorded every hour. Arterial blood gas was analyzed every 3 hours. The efficacy and safety of IPV was assessed at the start of weaning. Before IPV, Pao(2)/Fio(2) ratio remained low (189 +/- 63 mm Hg), which significantly increased to 243 +/- 67 mm Hg at 3 hours from the initiation of IPV (P < .01). Furthermore, it continuously increased to 280 +/- 50 mm Hg at 24 hours (P < .01). Intrapulmonary percussive ventilation induced significant increase in dynamic compliance from control value of 30 +/- 8 mL/cm H(2)O at 0 hours to 35 +/- 9 mL/cm H(2)O at 12 hours (P < .05) and to 38 +/- 8 mL/cm H(2)O at 24 hours (P < .01). Heart rate and mean arterial pressure were not significantly changed during IPV. Improvement of compression atelectasis was confirmed by their chest computed tomographic scans. Adverse effects such as pneumothorax and intracranial hypertension were not seen. These results demonstrated that IPV was effective and safe in improving compression atelectasis without adverse effects in obese patients.

  20. Single-dose intrapulmonary pharmacokinetics of azithromycin, clarithromycin, ciprofloxacin, and cefuroxime in volunteer subjects.

    PubMed Central

    Conte, J E; Golden, J; Duncan, S; McKenna, E; Lin, E; Zurlinden, E

    1996-01-01

    The intrapulmonary pharmacokinetics of azithromycin, clarithromycin, ciprofloxacin, and cefuroxime were studied in 68 volunteers who received single, oral doses of azithromycin (0.5 g), clarithormycin (0.5 g), ciprofloxacin (0.5 g), or cefuroxime (0.5 g). In subgroups of four subjects each, the subjects underwent bronchoscopy and bronchoalveolar lavage at timed intervals following drug administration. Drug concentrations, including those of 14-hydroxyclarithromycin (14H), were determined in serum, bronchoalveolar lavage fluid, and alveolar cells (ACs) by high-pressure liquid chromatography. Concentrations in epithelial lining fluid (ELF) were calculated by the urea diffusion method. The maximum observed concentrations (mean +/- standard deviation) of azithromycin, clarithromycin, 14H, ciprofloxacin, and cefuroxime in serum were 0.13 +/- 0.07, 1.0 +/- 0.6, 0.60 +/- 0.41, 0.95 +/- 0.32, and 1.1 +/- 0.3 microgram/ml, respectively (all at 6 h). None of the antibiotics except clarithromycin (39.6 +/- 41.1 micrograms/ml) was detectable in ELF at the 6-h bronchoscopy. The movement into and persistence in cells was different for azithromycin and clarithromycin. In ACs azithromycin was not detectable at 6 h, reached its highest concentration at 120 h, and exhibited the greatest area under the curve (7,403 micrograms.hr ml-1). The peak concentration of clarithromycin (181 +/- 94.1 micrograms/ml) was greater and occurred earlier (6 h), but the area under the curve (2,006 micrograms.hr ml-1) was less than that observed for azithromycin. 14H was detectable in ACs at 6 h (40.3 +/- 5.2 micrograms/ml) and 12 h (32.8 +/- 57.2 micrograms/ml). The peak concentration of ciprofloxacin occurred at 6 h (4.3 +/- 5.2 micrograms/ml), and the area under the curve was 35.0 micrograms.hr ml-1. The data indicate that after the administration of a single dose, azithromycin, clarithromycin, and ciprofloxacin penetrated into ACs in therapeutic concentrations and that only clarithromycin was

  1. Stability of Markers Used for Real-Time Tumor Tracking After Percutaneous Intrapulmonary Placement

    SciTech Connect

    Voort van Zyp, Noelle C. van der; Hoogeman, Mischa S.; Water, Steven van de; Levendag, Peter C.; Holt, Bronno van der; Heijmen, Ben J.M.; Nuyttens, Joost J.

    2011-11-01

    Purpose: To determine the stability of markers used for real-time tumor tracking after percutaneous intrapulmonary placement. Methods and Materials: A total of 42 patients with 44 lesions, 111 markers, and {>=}2 repeat computed tomography (CT) scans were studied. The tumor on the repeat CT scans was registered with the tumor on the planning CT scan. Next, the three-dimensional marker coordinates were determined on the planning CT scan and repeat CT scans. Marker stability was analyzed by the displacement of the markers and the displacement of the center of mass (COM) of the marker configurations. In addition, we assessed the reliability of using the intermarker distance as a check for displacements in the COM of the marker configurations. Results: The median marker displacement was 1.3 mm (range, 0.1-53.6). The marker displacement was >5 mm in 12% of the markers and >10 mm in 5% of the markers. The causes of marker displacement >5 mm included marker migration (2 of 13) and target volume changes (5 of 13). Nonsynchronous tumor and marker movement during breathing might have been responsible for the displacements >5 mm in the other 6 of 13 markers. The median displacement in the COM of the marker configurations was 1.0 mm (range, 0.1-23.3). Displacements in the COM of the marker configurations of {>=}2.0 mm were detected by changes in the intermarker distance of >1.5 mm in 96% of the treatment fractions. Conclusion: The median marker displacement was small (1.3 mm). Nevertheless, displacements >5 mm occurred in 12% of the markers. Therefore, we recommend the implantation of multiple markers because multiple markers will enable a quick and reliable check of marker displacement by determining the change in the intermarker distance. A displacement in the COM of the marker configuration of {>=}2.0 mm was almost always detected (96%) by a change in the distance between the markers of >1.5 mm. This enabled the displaced marker to be disabled, such that tumor localization

  2. Effects of intrapulmonary percussive ventilation on airway mucus clearance: A bench model

    PubMed Central

    Fernandez-Restrepo, Lorena; Shaffer, Lauren; Amalakuhan, Bravein; Restrepo, Marcos I; Peters, Jay; Restrepo, Ruben

    2017-01-01

    AIM To determine the ability of intrapulmonary percussive ventilation (IPV) to promote airway clearance in spontaneously breathing patients and those on mechanical ventilation. METHODS An artificial lung was used to simulate a spontaneously breathing patient (Group 1), and was then connected to a mechanical ventilator to simulate a patient on mechanical ventilation (Group 2). An 8.5 mm endotracheal tube (ETT) connected to the test lung, simulated the patient airway. Artificial mucus was instilled into the mid-portion of the ETT. A filter was attached at both ends of the ETT to collect the mucus displaced proximally (mouth-piece filter) and distally (lung filter). The IPV machine was attached to the proximal end of the ETT and was applied for 10-min each to Group 1 and 2. After each experiment, the weight of the various circuit components were determined and compared to their dry weights to calculate the weight of the displaced mucus. RESULTS In Group 1 (spontaneously breathing model), 26.8% ± 3.1% of the simulated mucus was displaced proximally, compared to 0% in Group 2 (the mechanically ventilated model) with a P-value of < 0.01. In fact, 17% ± 1.5% of the mucus in Group 2 remained in the mid-portion of the ETT where it was initially instilled and 80% ± 4.2% was displaced distally back towards the lung (P < 0.01). There was an overall statistically significant amount of mucus movement proximally towards the mouth-piece in the spontaneously breathing (SB) patient. There was also an overall statistically significant amount of mucus movement distally back towards the lung in the mechanically ventilated (MV) model. In the mechanically ventilated model, no mucus was observed to move towards the proximal/mouth piece section of the ETT. CONCLUSION This bench model suggests that IPV is associated with displacement of mucus towards the proximal mouthpiece in the SB patient, and distally in the MV model. PMID:28828301

  3. Congenital hypothyroidism

    PubMed Central

    2010-01-01

    Congenital hypothyroidism (CH) occurs in approximately 1:2,000 to 1:4,000 newborns. The clinical manifestations are often subtle or not present at birth. This likely is due to trans-placental passage of some maternal thyroid hormone, while many infants have some thyroid production of their own. Common symptoms include decreased activity and increased sleep, feeding difficulty, constipation, and prolonged jaundice. On examination, common signs include myxedematous facies, large fontanels, macroglossia, a distended abdomen with umbilical hernia, and hypotonia. CH is classified into permanent and transient forms, which in turn can be divided into primary, secondary, or peripheral etiologies. Thyroid dysgenesis accounts for 85% of permanent, primary CH, while inborn errors of thyroid hormone biosynthesis (dyshormonogeneses) account for 10-15% of cases. Secondary or central CH may occur with isolated TSH deficiency, but more commonly it is associated with congenital hypopitiutarism. Transient CH most commonly occurs in preterm infants born in areas of endemic iodine deficiency. In countries with newborn screening programs in place, infants with CH are diagnosed after detection by screening tests. The diagnosis should be confirmed by finding an elevated serum TSH and low T4 or free T4 level. Other diagnostic tests, such as thyroid radionuclide uptake and scan, thyroid sonography, or serum thyroglobulin determination may help pinpoint the underlying etiology, although treatment may be started without these tests. Levothyroxine is the treatment of choice; the recommended starting dose is 10 to 15 mcg/kg/day. The immediate goals of treatment are to rapidly raise the serum T4 above 130 nmol/L (10 ug/dL) and normalize serum TSH levels. Frequent laboratory monitoring in infancy is essential to ensure optimal neurocognitive outcome. Serum TSH and free T4 should be measured every 1-2 months in the first 6 months of life and every 3-4 months thereafter. In general, the prognosis

  4. Congenital anomalies associated with congenital hypothyroidism.

    PubMed

    Stoll, C; Dott, B; Alembik, Y; Koehl, C

    1999-01-01

    The French national neonatal screening program for congenital hypothyroidism (CH) was initiated in 1978. The purpose of this study was to ascertain the incidence of congenital extrathyroid anomalies (ETAs) among the infants with congenital hypothyroidism (CH) and to compare it with the Northeastern France Birth Defect Monitoring System data from 1979 to 1996. Among 129 CH infants on whom adequate data were available, 20 infants (15.5%) had associated congenital anomalies. Eight out of 76 infants with persistent CH had ETAs (10.5%) whereas 12 out of 53 children with transient hypothyroidism had ETAs (22.6%, p < 0.05). Some additional anomalies were considerably more common than in the general population. Nine infants had congenital cardiac anomalies (6.9%). This rises the question if teratogenic effects active during organogenesis may affect simultaneously many organs, including the developing thyroid, causing a relatively high percentage of CH infants with congenital ETAs.

  5. Novel intrapulmonary model for orthotopic propagation of human lung cancers in athymic nude mice.

    PubMed

    McLemore, T L; Liu, M C; Blacker, P C; Gregg, M; Alley, M C; Abbott, B J; Shoemaker, R H; Bohlman, M E; Litterst, C C; Hubbard, W C

    1987-10-01

    A major impediment to the study of human lung cancer pathophysiology, as well as to the discovery and development of new specific antitumor agents for the treatment of lung cancer, has been the lack of appropriate experimental animal models. This paper describes a new model for the propagation of human lung tumor cells in the bronchioalveolar regions of the right lungs of athymic NCr-nu/nu mice via an intrabronchial (i.b.) implantation procedure. Over 1000 i.b. implantations have been performed to date, each requiring 3 to 5 min for completion and having a surgery-related mortality of approximately 5%. The model was used successfully for the orthotopic propagation of four established human lung cancer cell lines including: an adenosquamous cell carcinoma (NCI-H125); an adenocarcinoma (A549); a large cell undifferentiated carcinoma (NCI-H460), and a bronchioloalveolar cell carcinoma (NCI-H358). When each of the four cell lines was implanted i.b. using a 1.0 X 10(6) tumor cell inoculum, 100 +/- 0% (SD) tumor-related mortality was observed within 9 to 61 days. In contrast, when the conventional s.c. method for implantation was used at the same tumor cell inoculum, only minimal (2.5 +/- 5%) tumor-related mortality was observed within 140 days (P less than 0.001). Similarly, when a 1.0 X 10(5) or 1.0 X 10(4) cell inoculum was used, a dose-dependent, tumor-related mortality was observed when cells were implanted i.b. (56 +/- 24% or 25 +/- 17%) as compared with the s.c. method (5 +/- 5.7% or 0.0 +/- 0%) (P less than 0.02 and P less than 0.05, respectively). Most (greater than 90%) of the lung tumors propagated by i.b. implantation were localized to the right lung fields as documented by necropsy and/or high-resolution chest roentgenography techniques which were developed for these studies. The intrapulmonary model was also used for establishment and propagation of xenografts derived directly from enzymatically digested, fresh human lung tumor specimens obtained at the

  6. Congenital Heart Disease in Adults

    MedlinePlus

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

  7. Use of intrapulmonary percussive ventilation (IPV) in the management of pulmonary complications of an infant with osteogenesis imperfecta.

    PubMed

    Nino, Gustavo; McNally, Paul; Miske, Laura J; Hickey, Eileen; Panitch, Howard B

    2009-11-01

    Osteogenesis imperfecta (OI) is a genetic disorder characterized by abnormal collagen formation and short stature. These patients present with frequent vertebral, rib, and long bone fractures. There are many respiratory complications associated with OI including pneumonia, the most common cause of mortality in the severe forms of the disease. We present a case of an infant with OI (type III/IV) and significant tracheobronchomalacia who had required multiple hospitalizations for recurrent atelectasis and respiratory failure in the setting of acute respiratory infections. External chest percussion and vibration were avoided because of the risk of rib fractures. intrapulmonary percussive ventilation (IPV) was initiated during an acute illness with good effect, and continued successfully after discharge from hospital. We conclude that IPV represents a safe and effective alternative to airway clearance in infants with OI.

  8. Intrapulmonary uptake, disposition, and n-nitrosamine formation with ventilation of nitrogen dioxide in isolated rat lungs

    SciTech Connect

    Postlethwait, E.M.

    1983-01-01

    The pulmonary uptake, transformation, and nitrosation ability of inhaled NO/sub 2/ were studied using an isolated perfused rat lung (IPL) preparation. Initially, NO/sub 2/ uptake and transformation, determined as NO/sub 2//sup -/ in perfusing medium (PM), as a function of dose were examined by altering either the inspired concentration (IC) or minute ventilation (MV). Both uptake and transformation were proportional to IC (4-20 ppm; 100 ml MV) and MV (45-130 ml; 5 ppm IC). Mean data showed linear correlations between total dose and uptake and transformation. Fractional uptake was 66%, and of the absorbed NO/sub 2/, 55% appeared as PM NO/sub 2//sup -/, regardless of the dose. NO/sub 2/ and its transformation product NO/sub 2//sup -/ are known to nitrosate amines in vitro. It was therefore determined if intrapulmonary nitrosation occurred during NO/sub 2/ inhalation and amine administration (10mM morphline in PM). N-nitrosomorpholine (NMOR) formation occurred in PM during NO/sub 2//sup -/ addition, was dose-dependent on NO/sub 2//sup -/, and partitioned evenly between lung and PM. NO/sub 2/ ventilation produced NMOR in both lung tissue and PM; NMOR content was greater with 20 ppm than with 9 ppm exposures. Maximum NMOR formation accounted for only 0.0008% of the morpholine. However, NO/sub 2/ exposure produced high tissue concentrations of NMOR with partitioning heavily in favor of lung. The results indicate that ventilation of IPL with NO/sub 2/ resulted in nitrosation of an amine in both the intrapulmonary and PM compartments.

  9. Intrapulmonary arteries respond to serotonin and adenosine triphosphate in broiler chickens susceptible to idiopathic pulmonary arterial hypertension.

    PubMed

    Kluess, H A; Stafford, J; Evanson, K W; Stone, A J; Worley, J; Wideman, R F

    2012-06-01

    This study examined factors contributing to increased vascular resistance and plexiform lesion formation in broiler chickens susceptible to idiopathic pulmonary arterial hypertension (IPAH). A diet supplemented with excess tryptophan (high-Trp diet), the precursor for serotonin, was used to accelerate the development of IPAH. Broilers fed the high-Trp diet had higher pulmonary arterial pressures than broilers fed the control diet, and plexiform lesion incidences tended to be higher (P = 0.11) in the high-Trp group than in the control group at 30 d of age. The intrapulmonary arteries were assessed for vasoconstriction in response to serotonin and adenosine triphosphate (ATP) and for activities of key metabolic enzymes for serotonin and ATP. The pulmonary artery (defined as the first major branch of the pulmonary artery inside the lung) and the primary pulmonary arterial rami (defined as the second major branch of the pulmonary artery inside the lung) both exhibited vasoconstriction in response to serotonin and ATP. This is the first study to demonstrate purinergic-mediated vasoconstriction in intrapulmonary arteries from broilers. Arteriole responsiveness did not differ between broilers fed the control diet or the high-Trp diet. Therefore, the high-Trp diet enhanced the development of IPAH but did not affect the artery's sensitivity to serotonin or ATP. Monoamine oxidase activity, responsible for the breakdown of serotonin, was severely impaired in pulmonary arteries from broilers in the high-Trp group. Accordingly, serotonin may persist longer and elicit an amplified response in broilers fed the high-Trp diet.

  10. Impact of catheter fragmentation followed by local intrapulmonary thrombolysis in acute high risk pulmonary embolism as primary therapy

    PubMed Central

    Mohan, Bishav; Aslam, Naved; Kumar Mehra, Anil; Takkar Chhabra, Shibba; Wander, Praneet; Tandon, Rohit; Singh Wander, Gurpreet

    2014-01-01

    Background Pulmonary embolism (PE) with more than 50% compromise of pulmonary circulation results significant right ventricular (RV) afterload leading to progressive RV failure, systemic hypotension and shock. Prompt restoration of thrombolysis, surgical embolectomy, or percutaneous mechanical thrombectomy (PMT) prevents progressive hemodynamic decline. We report our single center experience in high risk PE patients treated with standard pigtail catheter mechanical fragmentation followed by intrapulmonary thrombolysis as a primary therapy. Methods 50 consecutive patients with diagnosis of high risk PE defined as having shock index >1 with angiographic evidence of >50% pulmonary arterial occlusion are included in the present study. All patients underwent emergent cardiac catheterization. After ensuring flow across pulmonary artery with mechanical breakdown of embolus by rotating 5F pigtail catheter; bolus dose of urokinase (4400 IU/kg) followed by infusion for 24 h was given in the thrombus. Hemodynamic parameters were recorded and follow up pulmonary angiogram was done. Clinical and echo follow up was done for one year. Results Pigtail rotational mechanical thrombectomy restored antegrade flow in all patients. The mean pulmonary artery pressure, Miller score, Shock index decreased significantly from 41 ± 8 mmHg, 20 ± 5, 1.32 ± 0.3 to 24.52 ± 6.89, 5.35 ± 2.16, 0.79 ± 0.21 respectively (p < 0.0001). In-hospital major complications were seen in 4 patients. There was a statistically significant reduction of PA pressures from 62 ± 11 mmHg to 23±6 mmHg on follow up. Conclusions Rapid reperfusion of pulmonary arteries with mechanical fragmentation by pigtail catheter followed by intrapulmonary thrombolysis results in excellent immediate and intermediate term outcomes in patients presenting with high risk pulmonary embolism. PMID:24973834

  11. Congenital myopathies

    PubMed Central

    Colombo, Irene; Scoto, Mariacristina; Manzur, Adnan Y.; Robb, Stephanie A.; Maggi, Lorenzo; Gowda, Vasantha; Cullup, Thomas; Yau, Michael; Phadke, Rahul; Sewry, Caroline; Jungbluth, Heinz

    2015-01-01

    Objective: To assess the natural history of congenital myopathies (CMs) due to different genotypes. Methods: Retrospective cross-sectional study based on case-note review of 125 patients affected by CM, followed at a single pediatric neuromuscular center, between 1984 and 2012. Results: Genetic characterization was achieved in 99 of 125 cases (79.2%), with RYR1 most frequently implicated (44/125). Neonatal/infantile onset was observed in 76%. At birth, 30.4% required respiratory support, and 25.2% nasogastric feeding. Twelve percent died, mainly within the first year, associated with mutations in ACTA1, MTM1, or KLHL40. All RYR1-mutated cases survived and did not require long-term ventilator support including those with severe neonatal onset; however, recessive cases were more likely to require gastrostomy insertion (p = 0.0028) compared with dominant cases. Independent ambulation was achieved in 74.1% of all patients; 62.9% were late walkers. Among ambulant patients, 9% eventually became wheelchair-dependent. Scoliosis of variable severity was reported in 40%, with 1/3 of (both ambulant and nonambulant) patients requiring surgery. Bulbar involvement was present in 46.4% and required gastrostomy placement in 28.8% (at a mean age of 2.7 years). Respiratory impairment of variable severity was a feature in 64.1%; approximately half of these patients required nocturnal noninvasive ventilation due to respiratory failure (at a mean age of 8.5 years). Conclusions: We describe the long-term outcome of a large cohort of patients with CMs. While overall course is stable, we demonstrate a wide clinical spectrum with motor deterioration in a subset of cases. Severity in the neonatal/infantile period is critical for survival, with clear genotype-phenotype correlations that may inform future counseling. PMID:25428687

  12. Leber Congenital Amaurosis

    MedlinePlus

    ... Campaign to End Blindness Other Ways to Fight Blindness Corporate Support Volunteer Take Action You are here ... confused with congenital and hereditary optic atrophy, cortical blindness, congenital stationary night blindness, flecked retina syndrome, and ...

  13. [Genetics of congenital cardiopathies].

    PubMed

    Moreno García, M; Gómez Rodríguez, M J; Barreiro Miranda, E

    2000-07-01

    Congenital heart malformations are the most common of all birth defects, affecting 0.5-1% of all live births. Some of these malformations are due to genetic anomalies. Patterns of autosomal dominant, autosomal recessive and X-linked inheritance have been described. Mitochondrial inheritance and chromosomal anomalies can also be responsible for congenital heart malformations. Several genes for congenital heart defects have been identified. We review current knowledge on the genetic etiology of congenital heart disease.

  14. Chemoimmunotherapy of small cell bronchogenic carcinoma with VP-16-213, ifosfamide, vincristine, adriamycin, and Corynebacterium parvum

    SciTech Connect

    Valdivieso, M.; Tenczynski, T.F.; Rodriguez, V.; Burgess, M.A.; Mountain, C.F.; Barkley, H.T. Jr.; Hersh, E.M.; Bodey, G.P.

    1981-07-15

    Thirty-five consecutive patients with small cell bronchogenic carcinoma (SCBC) received chemoimmunotherapy with VP-16-213, Ifosfamide, vincristine, Adriamycin, and Corynebacterium parvum. Of 33 evaluable patients, 26 (79%) responded with complete (55%) or partial (24%) remissions. Complete remissions were more common among patients with limited disease (11/14 patients, 79%) compared with those with extensive disease (7/19 patients, 37%) and among patients (11/14 patients, 79%) compared with those with extensive disease (7/19 patients, 37%) and among patients who were ambulatory prior to therapy (16/25 patients, 64%) compared with those who were nonambulatory (2/8 patients, 25%). Myelosuppression consisted primarily of neutropenia. Eight percent of the treatment courses in 29% of the patients were associated with hematuria and/or documented episodes of infection during neutropenia. There were three deaths possibly related to treatment, in two of which there was no evidence of disease at post-mortem examination. Six patients relapsed in the central nervous system (CNS). In four instances, CNS relapse was the only site of tumor progression. Central nervous system relapse was more common among evaluable patients who did not receive prophylactic brain irradiation (5/17 patients, 29%, vs. 1/15 patients, 7%; P . 0.23). The median survival duration for all patients was 63 weeks, being slightly longer for patients with limited disease than for those with extensive disease (70.9 weeks vs. 56 weeks; P . 0.18). This was also true for patients who achieved complete rather than partial remissions (71 weeks vs. 50 weeks; P . 0.09). Patients receiving prophylactic brain irradiation experienced longer survival (100.8 weeks vs. 48 weeks; P . 0.01).

  15. Intrapulmonary and intramyocardial gene transfer in rhesus monkeys (Macaca mulatta): safety and efficiency of HIV-1-derived lentiviral vectors for fetal gene delivery.

    PubMed

    Tarantal, Alice F; McDonald, Ruth J; Jimenez, Daniel F; Lee, C Chang I; O'Shea, Cristin E; Leapley, Alyssa C; Won, Rosa H; Plopper, Charles G; Lutzko, Carolyn; Kohn, Donald B

    2005-07-01

    Fetal gene transfer was studied using intrapulmonary and intramyocardial transfer of SIN HIV-1-derived lentiviral vectors expressing EGFP in rhesus monkeys. Fetuses were monitored sonographically during gestation and tissue analyses performed at term or 3 months postnatal age. Animals remained healthy during the study period as evidenced by normal growth, development, hematology, clinical chemistry, echocardiography, and pulmonary function tests. Strong pulmonary fluorescence was observed postnatally after fetal intrapulmonary delivery of lenti-CMV, but not lenti-SP-C, and compared to nontransferred controls. High EGFP copy numbers were found by quantitative PCR with both vector constructs in lung lobes (intrapulmonary and intramyocardial lentiviral vector-mediated gene delivery.

  16. Localization of keratin mRNA in human tracheobronchial epithelium and bronchogenic carcinomas by in situ hybridization.

    PubMed Central

    Obara, T.; Baba, M.; Yamaguchi, Y.; Fuchs, E.; Resau, J. H.; Trump, B. F.; Klein-Szanto, A. J.

    1988-01-01

    An in situ hybridization technique was applied to detect expression of keratin mRNAs in xenotransplanted human tracheobronchial epithelium and lung carcinomas. Tissues from eight tracheas repopulated with cells from five different noncancerous donors and 15 squamous cell carcinomas were used. Using a K6 (56 kd) human keratin cDNA (KA-1) and a K14 (50 kd) cDNA (KB-2) as probes, radiolabeled by nick-translation with 3H-dATP/TTP, the specificity and significant differences in the levels of silver grains on various epithelial lesions in formalin-fixed, paraffin-embedded tissue sections were demonstrated. In situ hybridization with either KA-1 or KB-2 probe showed similar localization of silver grains in all histologic types in consecutive tissue sections. In xenotransplanted tracheobronchial epithelia, very few grains were seen over cells of simple, pseudostratified, or stratified epithelia two to three cell layers thick. Nonkeratinizing stratified hyperplastic epithelia of more than three cell layers showed uniform localization of numerous grains throughout the lesions. In contrast, epidermoid metaplasias exhibited a dense and localized pattern of grains on the basal and parabasal cell layers with a decrease in grain density toward the surface layers. Carcinoma cells from bronchogenic squamous cell carcinomas showed a higher density and more uniform localization of grains. Well-differentiated carcinoma cells contained more keratin mRNAs than moderately to poorly differentiated carcinoma cells. This evidence obtained with the KA-1 and KB-2 probes demonstrates the different localization patterns of keratin mRNAs in different epithelial lesions. In addition, the levels of mRNA expressed show a positive correlation with the degree of squamous differentiation. It was of particular interest that an ordered program of keratin mRNA expression proportional to the level of cellular differentiation was observed in epidermoid metaplasias. Both of these probes serve as

  17. Klippel-Feil syndrome associated with congenital cervical dislocation: report of an autopsy case.

    PubMed

    Shintaku, Masayuki; Wada, Kyosuke; Koyama, Takashi; Kohno, Hiroaki; Sakamoto, Takeshi; Hida, Shinya

    2013-01-01

    Klippel-Feil syndrome is an uncommon congenital anomaly that is characterized by abnormal fusion of the cervical vertebrae and occasionally accompanied by various anomalies of other bones and internal organs. We report the autopsy case of a 5-year-old girl with this syndrome ssociated with congenital cervical dislocation, with special reference to the pathological findings of the vertebral column and spinal cord. Principal anomalies of the cranio-spinal axis were as follows: partial defect of the clivus, scoliosis, hypoplasia of the whole cervical vertebrae, anterior dislocation of C7 with S-shaped deformity of the spinal canal, fusion of the spinous processes of the cervical and thoracic vertebrae, fusion of the vertebral bodies of C6 and C7 with collapse of C7, and spina bifida occulta of L5 and S1. In addition to these skeletal anomalies, subarachnoid vascular malformation in the medulla oblongata, a bronchogenic cyst in the posterior mediastinum, anomalous lobation of the lungs, and the mobile cecum were found at autopsy. The cervical cord showed an increase of the antero-posterior diameter, multifocal spongy changes of the white matter, and partial branching or duplication of the central canal. The brain showed features of anoxic encephalopathy. The partial defect of the clivus, C7 dislocation, and various lesions of the medulla oblongata and cervical cord were interpreted as integral components of, or lesions closely associated with, Klippel-Feil syndrome.

  18. Congenital defects of sheep.

    PubMed

    Dennis, S M

    1993-03-01

    With increasing incrimination of viruses, plants, and drugs as causes of ovine congenital defects, concerted efforts are required to identify environmental teratogens. Expanding knowledge of congenital defects requires studying as many defective lambs as possible; recording and documenting; detailed diagnostic examinations; genetic analyses and chromosomal examinations, whenever possible; and field investigations. Adopting standardized classification, terminology, and diagnostic procedures should improve descriptions, diagnoses, and interdisciplinary exchange of information. That, in turn, should improve our knowledge of and diagnosis of congenital defects of sheep in the future. Finally, veterinary clinicians and diagnosticians are encouraged to take an interest in congenital defects and teratology.

  19. Genetics Home Reference: congenital hypothyroidism

    MedlinePlus

    ... 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 ...

  20. Congenital heat disease

    SciTech Connect

    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.

  1. Congenital patellar syndrome.

    PubMed

    Jerome, J Terrence Jose; Varghese, M; Sankaran, B

    2009-01-01

    Congenital patellar syndrome is bilateral isolated absence of patella. Congenital patellar aplasia or hypoplasia associated with genetic disorders belongs to a clinically diverse and genetically heterogeneous group of lower limb malformations. Absence of patella as an isolated anomaly is extremely rare and we discuss such a case in a 9-year-old boy.

  2. Multifocal Congenital Hemangiopericytoma.

    PubMed

    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.

  3. Utility of Genomic Analysis in Differentiating Synchronous and Metachronous Lung Adenocarcinomas from Primary Adenocarcinomas with Intrapulmonary Metastasis.

    PubMed

    Saab, Jad; Zia, Hamid; Mathew, Susan; Kluk, Michael; Narula, Navneet; Fernandes, Helen

    2017-06-01

    Distinguishing synchronous and metachronous primary lung adenocarcinomas from adenocarcinomas with intrapulmonary metastasis is essential for optimal patient management. In this study, multiple lung adenocarcinomas occurring in the same patient were evaluated using comprehensive histopathologic evaluation supplemented with molecular analysis. The cohort included 18 patients with a total of 52 lung adenocarcinomas. Eleven patients had a new diagnosis of multiple adenocarcinomas in the same lobe (n=5) or different lobe (n=6). Seven patients had a history of lung cancer and developed multiple new tumors. The final diagnosis was made in resection specimens (n=49), fine needle aspiration (n=2), and biopsy (n=1). Adenocarcinomas were non-mucinous, and histopathologic comparison of tumors was performed. All tumors save for one were subjected to ALK gene rearrangement testing and targeted Next Generation Sequencing (NGS). Using clinical, radiologic, and morphologic features, a confident conclusion favoring synchronous/metachronous or metastatic disease was made in 65% of patients. Cases that proved challenging included ones with more than three tumors showing overlapping growth patterns and lacking a predominant lepidic component. Genomic signatures unique to each tumor were helpful in determining the relationship of multiple carcinomas in 72% of patients. Collectively, morphologic and genomic data proved to be of greater value and achieved a conclusive diagnosis in 94% of patients. Assessment of the genomic profiles of multiple lung adenocarcinomas complements the histological findings, enabling a more comprehensive assessment of synchronous, metachronous, and metastatic lesions in most patients, thereby improving staging accuracy. Targeted NGS can identify genetic alterations with therapeutic implications. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

  4. Intrapulmonary percussive ventilation in acute exacerbations of COPD patients with mild respiratory acidosis: a randomized controlled trial [ISRCTN17802078].

    PubMed

    Vargas, Frédéric; Bui, Hoang Nam; Boyer, Alexandre; Salmi, Louis Rachid; Gbikpi-Benissan, Georges; Guenard, Hervé; Gruson, Didier; Hilbert, Gilles

    2005-08-01

    We hypothesized that the use of intrapulmonary percussive ventilation (IPV), a technique designed to improve mucus clearance, could prove effective in avoiding further deterioration in patients with acute exacerbations of chronic obstructive pulmonary disease (COPD) with mild respiratory acidosis. The study was performed in a medical intensive care unit of a university hospital. Thirty-three patients with exacerbations of COPD with a respiratory frequency >or= 25/min, a PaCO2 > 45 Torr and 7.35

  5. Sildenafil, nifedipine and acetazolamide do not allow for blood flow through intrapulmonary arteriovenous anastomoses during exercise while breathing 100% oxygen.

    PubMed

    Elliott, Jonathan E; Friedman, Jonathan M; Futral, Joel E; Goodman, Randall D; Lovering, Andrew T

    2014-12-01

    Blood flow through intrapulmonary arteriovenous anastomoses (IPAVAs) is known to increase in healthy humans during exercise while breathing room air, but is prevented or significantly reduced during exercise while breathing 100% O2, potentially due to vasoconstriction of IPAVAs. Thus, pharmacological interventions that target known pathways regulating the cardiopulmonary circulation may be able to prevent the hyperoxia-induced reduction in IPAVA blood flow (Q̇ IPAVA ) during exercise. In nine healthy human subjects, we investigated the effects of sildenafil (100 mg p.o.), nifedipine (20 mg p.o.) and acetazolamide (250 mg p.o. three times a day for 3 days) on Q̇ IPAVA at rest and during cycle ergometer exercise at 50, 100, 150, 200 and 250 W, while breathing room air (normoxia) and 100% O2 (hyperoxia). Transthoracic saline contrast echocardiography and a 0-5 bubble scoring system were used to detect and assess Q̇ IPAVA qualitatively; ultrasound was used to assess the blood flow velocity oftricuspid regurgitation and the left ventricular outflow tract blood flow to calculate pulmonary artery systolic pressure (PASP) and cardiac output, respectively. Without drugs, bubble scores increased significantly to ≥2 at 150 W in normoxia and to ≤2 at 200 W in hyperoxia. Only nifedipine consistently increased cardiac output at rest and during low-intensity exercise in normoxia and hyperoxia. However, there was no detectable effect of any drug on Q̇ IPAVA ; specifically, bubble scores were the same during exercise in either normoxia or hyperoxia. Accordingly, the reduction in Q̇ IPAVA during exercise while breathing 100% O2 is likely not to be due to the independent pharmacological mechanisms of action associated with sildenafil, nifedipine or acetazolamide.

  6. TASK-1 potassium channel is not critically involved in mediating hypoxic pulmonary vasoconstriction of murine intra-pulmonary arteries

    PubMed Central

    Murtaza, Ghulam; Mermer, Petra; Goldenberg, Anna; Pfeil, Uwe; Paddenberg, Renate; Weissmann, Nobert; Lochnit, Guenter; Kummer, Wolfgang

    2017-01-01

    The two-pore domain potassium channel KCNK3 (TASK-1) is expressed in rat and human pulmonary artery smooth muscle cells. There, it is associated with hypoxia-induced signalling, and its dysfunction is linked to pathogenesis of human pulmonary hypertension. We here aimed to determine its role in hypoxic pulmonary vasoconstriction (HPV) in the mouse, and hence the suitability of this model for further mechanistic investigations, using appropriate inhibitors and TASK-1 knockout (KO) mice. RT-PCR revealed expression of TASK-1 mRNA in murine lungs and pre-acinar pulmonary arteries. Protein localization by immunohistochemistry and western blot was unreliable since all antibodies produced labelling also in TASK-1 KO organs/tissues. HPV was investigated by videomorphometric analysis of intra- (inner diameter: 25–40 μm) and pre-acinar pulmonary arteries (inner diameter: 41–60 μm). HPV persisted in TASK-1 KO intra-acinar arteries. Pre-acinar arteries developed initial HPV, but the response faded earlier (after 30 min) in KO vessels. This HPV pattern was grossly mimicked by the TASK-1 inhibitor anandamide in wild-type vessels. Hypoxia-provoked rise in pulmonary arterial pressure (PAP) in isolated ventilated lungs was affected neither by TASK-1 gene deficiency nor by the TASK-1 inhibitor A293. TASK-1 is dispensable for initiating HPV of murine intra-pulmonary arteries, but participates in sustained HPV specifically in pre-acinar arteries. This does not translate into abnormal rise in PAP. While there is compelling evidence that TASK-1 is involved in the pathogenesis of pulmonary arterial hypertension in humans, the mouse does not appear to serve as a suitable model to study the underlying molecular mechanisms. PMID:28301582

  7. Short term exposure to NO sup 2 decreases intrapulmonary killing of Mycoplasma pulmonis by damaging alveolar macrophages

    SciTech Connect

    Davis, J.K.; Davidson, M.K.; Schoeb, T.R.; Lindsey, J.R. Veteran Administration Medical Center, Birmingham, AL )

    1991-03-11

    Previous studies have shown that exposure of pathogen free C57BL/6N mice to 5 or 10 ppm of NO{sub 2} increased severity of murine respiratory mycoplasmosis and that this effect was associated with decreased intrapulmonary killing (IPK) of Mycoplasma pulmonis (MP). The purposes of the present studies were to titrate the NO{sub 2} effect and to determine if the changes in IPK were due to the effects of NO{sub 2} on alveolar macrophages. Exposure to less than 5 ppm NO{sub 2} had no effect on IPK of MP. Bronchoalveolar lavage (BAL) cells killed MP in vitro only if they were allowed to associate with mycoplasmas in vivo. Prior exposure to NO{sub 2} abrogated killing in this in vivo-in vitro model. Exposure to NO{sub 2} did not increase the protein content of BAL within 24 hours. Greater than 95% of the BAL cells were macrophages, and greater than 98% of the cell-associated mycoplasmas were on or in alveolar macrophages. Immediately after exposure, viability of alveolar macrophages, as measured by trypan blue exclusion and fluorescein diacetate uptake, was 89 {plus minus} 4% and 88 {plus minus} 4% in the control group, respectively; 56 {plus minus} 19% and 64 {plus minus} 11% in the group receiving MP alone; 23 {plus minus} 7% and 48 {plus minus} 9% in the group receiving 10 ppm NO{sub 2}; and 16 {plus minus} 6% and 25 {plus minus} 6% in the group receiving both MP and NO{sub 2} exposures. Viability was significantly decreased following exposure to 5 or 10 ppm NO{sub 2}, but not following exposure to 2 ppm. Viability did not return to normal until 7 days after exposure to NO{sub 2}, at which time IPK also returned to normal. The cellular target of NO{sub 2} exposure in relation to IPK of MP appears to be the alveolar macrophage.

  8. Intrapulmonary Vascular Dilatation Evaluated by 99mTc-MAA Scintigraphy and Its Association with Portal Hypertension in Schistosomiasis

    PubMed Central

    de Queirós, Andréa Simone Siqueira; Brandão, Simone Cristina Soares; Domingues, Ana Lúcia Coutinho; Macedo, Liana Gonçalves; Ourem, Maira Souto; Lopes, Edmundo Pessoa Almeida

    2014-01-01

    Background Portal hypertension is responsible for various complications in patients with schistosomiasis, among them intrapulmonary vascular dilations (IPVD). In cirrhotic patients the presence of IPVD is a sign of poor prognosis, but in patients with hepatosplenic schistosomiasis (HSS) there are no studies assessing the significance of this change. The aim of this study was to evaluate the occurrence of IPVD through 99mTc-MAA scintigraphy in patients with HSS and its relationship with clinical, laboratory, endoscopic and ultrasound parameters. Methods Cross-sectional study evaluating 51 patients with HSS. Patients were diagnosed with IPVD when the brain uptake of 99mTc-MAA was higher than 6%. Subsequently, they were divided according to presence (G1) or absence (G2) of IPVD and variables were compared between groups. Results Overall, 51 patients with mean age of 56±12 years were assessed. IPVD was observed in 31 patients (60%). There was no statistically significant differences between groups when clinical, laboratory and endoscopic parameters were compared. Regarding ultrasound parameters, the splenic vein diameter was smaller in G1 (0.9±0.3 cm) compared to G2 (1.2±0.4 cm), p = 0.029. Conclusion In patients with HSS, the occurrence of IPVD by 99mTc-MAA scintigraphy was high and was associated with lower splenic vein diameter, which can be a mechanism of vascular protection against portal hypertension. However, more studies are needed to determine the clinical significance of the early diagnosis and natural evolution of IPVD in this population. PMID:24967578

  9. Risk of Recurrent Neurologic Stroke or Transient Ischemic Attack in Patients with Cryptogenic Stroke and Intrapulmonary Shunt.

    PubMed

    Sinha, Rahul S; Hussain, Zeeshan; Bhatia, Nirmanmoh; Stoddard, Marcus F

    2016-02-01

    Cardio-embolic phenomenon is believed to underlie a significant proportion of cryptogenic strokes. We recently showed that intrapulmonary shunt (IPS) was associated with cryptogenic stroke and transient ischemic attack (TIA). We hypothesized that patients with prior cryptogenic stroke or TIA that had an IPS were at a higher risk for recurrent ischemic events. The population included subjects with cryptogenic cerebrovascular accident (CVA) or TIA. Inclusion criteria were age ≥18 years, sinus rhythm, and clinically indicated transesophageal echocardiography (TEE). Exclusion criteria were hemorrhagic CVA, septal defect, and patent foramen. Patients were followed from index TEE. Of 71 patients, 8 were lost to follow-up. A total of 23 patients had and 40 were without IPS. Average follow-up duration was 38.3 ± 19.2 months. Groups were similar at baseline. There was no significant difference in the recurrence of ischemic CVA or TIA in the IPS versus non-IPS groups (0% vs. 7.5%; P = NS). There was no difference between the incidence of hemorrhagic CVA in the IPS and non-IPS groups (4.3% vs. 5.0%; P = NS). The proportion of patients on warfarin in the IPS group was significantly higher compared to the non-IPS group (17.4% vs. 0%; P < 0.05). Patients with IPS and cryptogenic stroke or TIA did not have a higher recurrence of ischemic cerebral events. Warfarin was significantly higher at follow-up in the IPS compared to the non-IPS group, which may explain these findings. A study randomizing patients with IPS and cryptogenic stroke or TIA to warfarin or no warfarin would be of great interest. © 2015, Wiley Periodicals, Inc.

  10. [Assessment of prognosis and p 53 mutations in patients with multiple tumors of the lung; intrapulmonary metastasis or double primary cancers?].

    PubMed

    Osaki, T; Oyama, T; Takenoyama, M; Taga, S; So, T; Yamashita, T; Nakata, S; Sugio, K; Yasumoto, K

    2002-01-01

    To assess whether a satellite lesion in the primary-tumor lobe is intrapulmonary metastasis from primary cancer (pm 1) or they are double primary lung cancers, we examined the postoperative prognosis of patients with pm 1 and the p 53 genetic differentiation between a satellite lesion and a primary lesion. Of 772 consecutive patients with N0-2M0 non-small cell lung cancer who underwent surgical resections between 1979 and 2000, 31 patients had a satellite lesion in the primary-tumor lobe. The 5-year survival rate was 26.3% in the pm 1 (+) T 4 group (n = 37), 14.7% in the pm 1 (-) T 4 group (n = 43), and 32.5% in the T 3 group (n = 132), suggesting that pm 1 cases should be classified as T 3. We examined 16 of 37 patients with pm 1 for mutations of the p 53 gene occurring exons 5 through 8 by the fluorescence-based polymerase chain reaction single-strand conformation polymorphism. Seven of the 16 patients analyzed had at least one p 53 mutations in their tumors. The mutational status of the p 53 gene was discordant in 5 patients, suggesting they were double primary lung cancers. The mutational status including DNA sequencing of the p 53 gene was concordant in 2 patients, suggesting they were intrapulmonary metastases. It remains arguable in the TNM staging system whether a satellite lesion in the primary-tumor lobe is intrapulmonary metastasis from primary cancer or they are double primary lung cancers.

  11. Congenital anomalies associated with hypothyroidism.

    PubMed Central

    Bamforth, J S; Hughes, I; Lazarus, J; John, R

    1986-01-01

    Seven of the 34 infants identified through the Welsh Hypothyroid Screening Programme have additional congenital abnormalities. Two infants have a previously undescribed syndrome, two have chromosomal abnormalities, two have congenital heart disease, and one has a myelomeningocoele. Congenital hypothyroidism often seems to be associated with other congenital abnormalities. PMID:3729532

  12. Genetics of congenital hypothyroidism

    PubMed Central

    Park, S; Chatterjee, V

    2005-01-01

    Congenital hypothyroidism is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment and infertility if untreated. Congenital hypothyroidism is usually sporadic but up to 2% of thyroid dysgenesis is familial, and congenital hypothyroidism caused by organification defects is often recessively inherited. The candidate genes associated with this genetically heterogeneous disorder form two main groups: those causing thyroid gland dysgenesis and those causing dyshormonogenesis. Genes associated with thyroid gland dysgenesis include the TSH receptor in non-syndromic congenital hypothyroidism, and Gsα and the thyroid transcription factors (TTF-1, TTF-2, and Pax-8), associated with different complex syndromes that include congenital hypothyroidism. Among those causing dyshormonogenesis, the thyroid peroxidase and thyroglobulin genes were initially described, and more recently PDS (Pendred syndrome), NIS (sodium iodide symporter), and THOX2 (thyroid oxidase 2) gene defects. There is also early evidence for a third group of congenital hypothyroid conditions associated with iodothyronine transporter defects associated with severe neurological sequelae. This review focuses on the genetic aspects of primary congenital hypothyroidism. PMID:15863666

  13. Giant congenital melanocytic nevus.

    PubMed

    Viana, Ana Carolina Leite; Gontijo, Bernardo; Bittencourt, Flávia Vasques

    2013-01-01

    Giant congenital melanocytic nevus is usually defined as a melanocytic lesion present at birth that will reach a diameter ≥ 20 cm in adulthood. Its incidence is estimated in <1:20,000 newborns. Despite its rarity, this lesion is important because it may associate with severe complications such as malignant melanoma, affect the central nervous system (neurocutaneous melanosis), and have major psychosocial impact on the patient and his family due to its unsightly appearance. Giant congenital melanocytic nevus generally presents as a brown lesion, with flat or mammilated surface, well-demarcated borders and hypertrichosis. Congenital melanocytic nevus is primarily a clinical diagnosis. However, congenital nevi are histologically distinguished from acquired nevi mainly by their larger size, the spread of the nevus cells to the deep layers of the skin and by their more varied architecture and morphology. Although giant congenital melanocytic nevus is recognized as a risk factor for the development of melanoma, the precise magnitude of this risk is still controversial. The estimated lifetime risk of developing melanoma varies from 5 to 10%. On account of these uncertainties and the size of the lesions, the management of giant congenital melanocytic nevus needs individualization. Treatment may include surgical and non-surgical procedures, psychological intervention and/or clinical follow-up, with special attention to changes in color, texture or on the surface of the lesion. The only absolute indication for surgery in giant congenital melanocytic nevus is the development of a malignant neoplasm on the lesion.

  14. Giant congenital melanocytic nevus*

    PubMed Central

    Viana, Ana Carolina Leite; Gontijo, Bernardo; Bittencourt, Flávia Vasques

    2013-01-01

    Giant congenital melanocytic nevus is usually defined as a melanocytic lesion present at birth that will reach a diameter ≥ 20 cm in adulthood. Its incidence is estimated in <1:20,000 newborns. Despite its rarity, this lesion is important because it may associate with severe complications such as malignant melanoma, affect the central nervous system (neurocutaneous melanosis), and have major psychosocial impact on the patient and his family due to its unsightly appearance. Giant congenital melanocytic nevus generally presents as a brown lesion, with flat or mammilated surface, well-demarcated borders and hypertrichosis. Congenital melanocytic nevus is primarily a clinical diagnosis. However, congenital nevi are histologically distinguished from acquired nevi mainly by their larger size, the spread of the nevus cells to the deep layers of the skin and by their more varied architecture and morphology. Although giant congenital melanocytic nevus is recognized as a risk factor for the development of melanoma, the precise magnitude of this risk is still controversial. The estimated lifetime risk of developing melanoma varies from 5 to 10%. On account of these uncertainties and the size of the lesions, the management of giant congenital melanocytic nevus needs individualization. Treatment may include surgical and non-surgical procedures, psychological intervention and/or clinical follow-up, with special attention to changes in color, texture or on the surface of the lesion. The only absolute indication for surgery in giant congenital melanocytic nevus is the development of a malignant neoplasm on the lesion. PMID:24474093

  15. Congenital complete heart block.

    PubMed Central

    Agarwala, B.; Sheikh, Z.; Cibils, L. A.

    1996-01-01

    Congenital complete heart block in utero has become diagnosed more frequently with the clinical use of fetal echocardiography. The fetus with complete heart block may remain asymptomatic or may develop congestive heart failure. Congenital complete heart block is more frequently seen in infants of mothers with systemic lupus erythematosus, both clinically manifested and subclinical systemic lupus erythematosus with positive antibodies (SS-A and SS-B antibodies). At birth, the neonate with complete heart block may remain asymptomatic and may not require a pacemaker to increase the heart rate. The indications for a pacemaker in neonates with complete heart block have been discussed. Both in-utero and neonatal management of congenital complete heart block are discussed to manage congestive heart failure in a fetus. Four patients with congenital complete heart block are presented covering a broad spectrum of clinical presentation, diagnosis, and management both in the fetal and neonatal period. Images Figure 1 PMID:8961692

  16. Congenital nephrotic syndrome

    MedlinePlus

    ... may be high. There may be signs of malnutrition. A urinalysis reveals fat and large amounts of ... The disorder often leads to infection, malnutrition, and kidney failure. ... die within the first year. Congenital nephrotic syndrome ...

  17. Giant congenital nevus

    MedlinePlus

    ... A congenital pigmented or melanocytic nevus is a dark-colored, often hairy, patch of skin. It is ... rare. Symptoms A nevus will appear as a dark-colored patch with any of the following: Brown ...

  18. Congenital Heart Information Network

    MedlinePlus

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

  19. Alteration in Intrapulmonary Pharmacokinetics of Aerosolized Model Compounds Due to Disruption of the Alveolar Epithelial Barriers Following Bleomycin-Induced Pulmonary Fibrosis in Rats.

    PubMed

    Togami, Kohei; Chono, Sumio; Tada, Hitoshi

    2016-03-01

    Idiopathic pulmonary fibrosis is a lethal lung disease that is characterized by the accumulation of extracellular matrix and a change in lung structure. In this study, intrapulmonary pharmacokinetics of aerosolized model compounds were evaluated using rats with bleomycin-induced pulmonary fibrosis. Aerosol formulations of indocyanine green, 6-carboxyfluorescein (6-CF), and fluorescein isothiocyanate dextrans (FD; 4.4, 10, 70, and 250 kDa) were administered to rat lungs using a MicroSprayer. Indocyanine green fluorescence signals were significantly weaker in fibrotic lungs than in control lungs and 6-CF and FD concentrations in the plasma of pulmonary fibrotic animals were markedly higher than in the plasma of control animals. Moreover, disrupted epithelial tight junctions, including claudins-1, -3, and -5, were observed in pulmonary fibrotic lesions using immunofluorescence microscopy. In addition, destruction of tight junctions on model alveolar epithelial cells (NCI-H441) by transforming growth factor-β1 treatment enhanced the permeability of 6-CF and FDs through NCI-H441 cell monolayers. These results indicate that aerosolized drugs are easily distributed into the plasma after leakage through damaged tight junctions of alveolar epithelium. Therefore, the development of delivery systems for anti-fibrotic agents to improve intrapulmonary pharmacokinetics may be necessary for effective idiopathic pulmonary fibrosis therapy.

  20. The effects of arachidonic acid and non-steroidal anti-inflammatory drugs on intrapulmonary airways of the guinea-pig.

    PubMed Central

    Clay, T. P.; Fenske, D. C.

    1984-01-01

    A method is described in which changes in intrapulmonary airway tone of guinea-pig isolated lungs are reflected by changes in intraluminal perfusion pressure. A supramaximal dose of arachidonic acid (AA) (61 microM) was found to have little on no action on baseline perfusion pressure. However, following elevation of perfusion pressure with histamine, AA caused a dose-dependent pressure decrease. This was also mimicked by prostaglandin E1 (PGE1) and PGE2. AA induced a reduction of histamine elevated perfusion pressure which was inhibited, dose-dependently, by several non-steroidal anti-inflammatory agents including indomethacin, phenylbutazone, aspirin, benoxaprofen, BW755C and phenidone. Their respective rank order of potency appeared to correlate with their activity against microsomal cyclo-oxygenase. Indomethacin, phenylbutazone and aspirin induced augmentation of the elevated perfusion pressure due to histamine, whereas BW755C did not. We suggest that the primary arachidonate metabolite present in intrapulmonary airways following histamine-induced constriction is probably a relaxant of the E series. However, our data suggest that both cyclo-oxygenase and lipoxygenase products are associated with the maintenance of airway tone. PMID:6423021

  1. Congenital symmastia revisited.

    PubMed

    Sillesen, Nanna H; Hölmich, Lisbeth R; Siersen, Hans E; Bonde, Christian

    2012-12-01

    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. Congenital symmastia was identified as a distinct deformation using a review of the literature and a theoretical model. We analysed the malady using a three-step principle, formulated by Blondeel, which describes the breast as a 'footprint', 'conus' and 'skin-envelope'. To date, few papers on congenital symmastia have been published, most of which focus on the application of various surgical approaches. We examined the literature and evaluated the procedures used, and are presenting two recent cases of congenital symmastia as examples. By combining review and analysis we offer a rational treatment practice. The analysis showed that the optimal treatment begins by correcting the 'footprint', removing the excess 'conus' over the sternum, and finally reattaching the 'skin-envelope' to the sternum to recreate the normal medial border of the 'footprint'. Thus far, the two most common approaches used to treat congenital symmastia are: reduction mammaplasty and liposuction. By combining the Blondeel analysis with a procedural review, we developed a flow chart to offer a possible treatment practice. Copyright © 2012 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  2. Differences in responsiveness of intrapulmonary artery and vein to arachidonic acid: mechanism of arterial relaxation involves cyclic guanosine 3':5'-monophosphate and cyclic adenosine 3':5'-monophosphate

    SciTech Connect

    Ignarro, L.J.; Harbison, R.G.; Wood, K.S.; Wolin, M.S.; McNamara, D.B.; Hyman, A.L.; Kadowitz, P.J.

    1985-06-01

    The objective of this study was to examine the relationship between responses of bovine intrapulmonary artery and vein to arachidonic acid and cyclic nucleotide levels in order to better understand the mechanism of relaxation elicited by arachidonic acid and acetylcholine. Arachidonic acid relaxed phenylephrine-precontracted arterial rings and elevated both cyclic GMP and cyclic AMP levels in arteries with intact endothelium. In contrast, endothelium-damaged arterial rings contracted to arachidonic acid without demonstrating significant changes in cyclic nucleotide levels. Indomethacin partially inhibited endothelium-dependent relaxation and abolished cyclic AMP accumulation whereas methylene blue, a guanylate cyclase inhibitor, partially inhibited relaxation and abolished cyclic GMP accumulation in response to arachidonic acid. All vessel responses were blocked by a combination of the two inhibitors. Prostaglandin (PG) I2 relaxed arterial rings and elevated cyclic AMP levels whereas PGE2 and PGF2 alpha caused contraction, suggesting that the indomethacin-sensitive component of arachidonic acid-elicited relaxation is due to PGI2 formation and cyclic AMP accumulation. The methylene blue-sensitive component is attributed to an endothelium-dependent but cyclooxygenase-independent generation of a substance causing cyclic GMP accumulation. Intrapulmonary veins contracted to arachidonic acid with no changes in cyclic nucleotide levels and PGI2 was without effect. Homogenates of intrapulmonary artery and vein formed 6-keto-PGF1 alpha, PGF2 alpha and PGE2 from (/sup 14/C)arachidonic acid, which was inhibited by indomethacin. Thus, bovine intrapulmonary vein may not possess receptors for PGI2.

  3. Congenital malaria in China.

    PubMed

    Tao, Zhi-Yong; Fang, Qiang; Liu, Xue; Culleton, Richard; Tao, Li; Xia, Hui; Gao, Qi

    2014-03-01

    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. 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 were cured with antimalarial drugs such as chloroquine

  4. Congenital Malaria in China

    PubMed Central

    Liu, Xue; Culleton, Richard; Tao, Li; Xia, Hui; Gao, Qi

    2014-01-01

    Abstract 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 were cured

  5. Genetics of Congenital Cataract.

    PubMed

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

    2016-01-01

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

  6. What Are Congenital Heart Defects?

    MedlinePlus

    ... Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/28/2013 This ... journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI-supported international, ...

  7. Types of Congenital Heart Defects

    MedlinePlus

    ... Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/28/2013 This ... journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI-supported international, ...

  8. Environmental aspects of congenital scoliosis.

    PubMed

    Li, Zheng; Yu, Xin; Shen, Jianxiong

    2015-04-01

    Growing evidence has proved that many aspects of our lifestyle and the environment contribute to the development of congenital disease. Congenital spinal deformities are due to anomalous development of the vertebrae including failure of formation and segmentation during embryogenesis. The causes of congenital scoliosis have not been fully identified. A variety of factors are implicated in the development of vertebral abnormalities. Previous studies have demonstrated that both genetics and environmental factors are implicated in the development of vertebral abnormalities. However, no specific cause for congenital scoliosis has been identified. In our review, we focus on the environmental factors for the development of congenital scoliosis. Various maternal exposures during pregnancy including hypoxia, alcohol use, vitamin deficiency, valproic acid, boric acid, and hyperthermia have been observed to be associated with the occurrence of congenital scoliosis. This review describes the major environmental contributors of congenital scoliosis with an emphasis on treatment aspects associated with environmental disposition in congenital scoliosis.

  9. Genetics Home Reference: congenital hyperinsulinism

    MedlinePlus

    ... of infancy Great Ormond Street Hospital for Children (UK) Merck Manual Consumer Version: Hypoglycemia Orphanet: Congenital isolated ... Diseases Congenital Hyperinsulinism International The Children's Hyperinsulinism Fund (UK) GeneReviews (1 link) Familial Hyperinsulinism ClinicalTrials.gov (1 ...

  10. Congenital tracheobronchial stenosis.

    PubMed

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

    2016-06-01

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

  11. Leber's congenital amaurosis.

    PubMed

    Mizuno, K; Takei, Y; Sears, M L; Peterson, W S; Carr, R E; Jampol, L M

    1977-01-01

    An early stage of Leber's congenital amaurosis, characterized by white spots or lines in the fundus, occurred in two children. Light microscopic examination of eyes obtained from one child, a 16-month-old Japanese girl, revealed subretinal deposits corresponding to the white spots and lines in the fundus deposits. Light and electron microscopic examination of the eye showed distinctive changes in the outer retinal layers and choroid, while the inner retinal layers were nearly normal. Characteristic early lesions of congenital amaurosis appeared to be produced by deposits consisting of loose outer segments and apical processes of the pigmental epithelial cell and macrophages. Undifferentiation in the nuclei of the photoreceptor cell, the inner segment, the pigment epithelial cell, and the choriocapillaris were likely characteristics of the early changes of congenital amaurosis.

  12. Leber's congenital amaurosis.

    PubMed

    De Laey, J J

    1991-01-01

    Leber's congenital amaurosis is an autosomal recessive disorder, characterized by the onset of blindness before the age of 6 months, a variable fundus aspect and an absent or extremely pathological ERG. The disorder may be isolated or associated with systemic involvement, such as nephronophtisis (Senior-Loken syndrome), nephronophtisis, cone-shaped epiphyses of the hand and cerebellar ataxia (Saldino-Mainzer syndrome), vermis hypoplasia, oculomotor anomalies and respiratory problems in the neonatal period (Joubert syndrome) or cardiomyopathy. It should be differentiated from other forms or chorioretinal dystrophies (juvenile retinitis pigmentosa or congenital stationary night blindness), cortical blindness or maturation delay and metabolic disorders. Children with possible congenital Leber amaurosis should not only have a thorough ophthalmological examination, but should also be seen by a paediatrician experienced in metabolic disorders.

  13. [Congenital chloride diarrhea].

    PubMed

    Contreras, Mónica; Rocca, Ana; Benedetti, Laura; Kakisu, Hisae; Delgado, Sabrina; Ruiz, José Antonio

    2005-01-01

    Congenital chloride diarrhea (CCD) is a rare hereditary disease, with a prenatal onset, secondary to a deficit in the intestinal chloride transport. In the present study, we describe the clinical characteristics of three patients with congenital watery diarrhea, two of them females, aged between 9 and 14 months at the first visit. All patients presented perinatal antecedents of polyhydramnios and prematurity, watery stools since birth and growth failure. Metabolic alkalosis, hypokalemia and hypochloremia were found. Stool ionogram with elevated doses of chloride, exceeding both sodium and potassium, confirmed the diagnosis of CCD. Substitute treatment with sodium and potassium chloride was started with good results. CCD should be considered as a differential diagnosis to congenital watery diarrhea, since early diagnosis and appropriate treatment are mandatory for the normal development of the child, avoiding severe complications such as neurological sequelae and even death.

  14. Comparison of the calculated absorbed dose using the Cadplan™ treatment planning software and Tld-100 measurements in an Alderson-Rando phantom for a bronchogenic treatment

    SciTech Connect

    Gutiérrez Castillo, J. G.; Álvarez Romero, J. T. E-mail: fisarmandotorres@gmail.com Calderón, A. Torres E-mail: fisarmandotorres@gmail.com M, V. Tovar E-mail: fisarmandotorres@gmail.com

    2014-11-07

    To verify the accuracy of the absorbed doses D calculated by a TPS Cadplan for a bronchogenic treatment (in an Alderson-Rando phantom) are chosen ten points with the following D's and localizations. Point 1, posterior position on the left edge with 136.4 Gy. Points: 2, 3 and 4 in the left lung with 104.9, 104.3 and 105.8 Gy, respectively; points 5 and 6 at the mediastinum with 192.4 and 173.5 Gy; points 7, 8 and 9 in the right lung with 105.8, 104.2 and 104.7 Gy, and 10 at posterior position on right edge with 143.7 Gy. IAEA type capsules with TLD 100 powder are placed, planned and irradiated. The evaluation of the absorbed dose is carried out a curve of calibration for the LiF response (nC) {sup vs} {sup DW}, to several cavity theories. The traceability for the DW is obtained with a secondary standard calibrated at the NRC (Canada). The dosimetric properties for the materials considered are determined from the Hounsfield numbers reported by the TPS. The stopping power ratios are calculated for nominal spectrum to 6 MV photons. The percent variations among the planned and determined D in all the cases they are < ± 3%.

  15. Comparison of the calculated absorbed dose using the Cadplan™ treatment planning software and Tld-100 measurements in an Alderson-Rando phantom for a bronchogenic treatment

    NASA Astrophysics Data System (ADS)

    Gutiérrez Castillo, J. G.; Álvarez Romero, J. T.; Torres Calderón, A.; Tovar, M. V.

    2014-11-01

    To verify the accuracy of the absorbed doses D calculated by a TPS Cadplan for a bronchogenic treatment (in an Alderson-Rando phantom) are chosen ten points with the following D's and localizations. Point 1, posterior position on the left edge with 136.4 Gy. Points: 2, 3 and 4 in the left lung with 104.9, 104.3 and 105.8 Gy, respectively; points 5 and 6 at the mediastinum with 192.4 and 173.5 Gy; points 7, 8 and 9 in the right lung with 105.8, 104.2 and 104.7 Gy, and 10 at posterior position on right edge with 143.7 Gy. IAEA type capsules with TLD 100 powder are placed, planned and irradiated. The evaluation of the absorbed dose is carried out a curve of calibration for the LiF response (nC) vs DW, to several cavity theories. The traceability for the DW is obtained with a secondary standard calibrated at the NRC (Canada). The dosimetric properties for the materials considered are determined from the Hounsfield numbers reported by the TPS. The stopping power ratios are calculated for nominal spectrum to 6 MV photons. The percent variations among the planned and determined D in all the cases they are < ± 3%.

  16. Biomarker assessments in asbestos-exposed workers as indicators for selective prevention of mesothelioma or bronchogenic carcinoma: rationale and practical implementations.

    PubMed

    Pluygers, E; Baldewyns, P; Minette, P; Beauduin, M; Gourdin, P; Robinet, P

    1992-02-01

    In the first part of this study we have shown how the serum levels of four selected tumour markers, namely tissue polypeptide antigen (TPA), carcino-embryonic antigen (CEA), hyaluronic acid (HA) and ferritin, display patterns characteristic of mesothelioma (M) or bronchogenic carcinoma (BC) in asbestos-exposed workers, and we hypothesize that the differences in marker patterns correspond to differences in carcinogenesis mechanisms. In a preliminary study, we found these specific marker patterns in 5/19 exposed workers of whom only one demonstrated any radiological signs of disease. Thus these specific marker patterns may be early events, occurring long (possibly years) before the classical radiological signs of exposure to asbestos. Accordingly they afford an optimal opportunity for prevention which should be adapted to the carcinogenesis mechanism as it is revealed by the marker pattern; it is aimed at antagonizing free radical carcinogenesis in all persons with TPA levels in excess of 100 U/l or Ferritin in excess of 400 ng/ml, and at inhibiting chemical carcinogenesis in those having elevated CEA levels (over 3 ng/ml). The mechanisms involved in these inhibitory processes are described and discussed, as well as the practical implementations that proceed from them. A prevention trial is now being started among 300 active and retired workers of an asbestos-cement works in northern France; the design of the study is presented. This prevention programme should be maintained over many years and holds a strong potential for reducing the untoward effects of exposure to asbestos.

  17. Biomarker assessments in asbestos-exposed workers as indicators for selective prevention of mesothelioma or bronchogenic carcinoma: rationale and practical implementations.

    PubMed

    Pluygers, E; Baldewyns, P; Minette, P; Beauduin, M; Gourdin, P; Robinet, P

    1991-10-01

    Asbestos-associated malignancies are one of the major industrial hazards of recent decades and will continue to be so until beyond the end of the century. It has been estimated that, in the United States alone, there will be 131,200 cancer deaths as a result of asbestos exposure. At present the early lesions are detected radiologically, by which time intervention is no longer effective. The aim of this study was to test the value of a battery of serum biomarkers in the early detection of malignancy and in distinguishing between the early stages of mesothelioma and bronchogenic carcinoma. Many of the biomarkers had no discriminating value but on the basis of four such markers (namely TPA, CEA, HA and ferritin) it has been possible to distinguish between the late stages of the two malignancies and asbestosis. The results are discussed in terms of their possible application to the detection of early pre-malignant lesions in a screened population of asbestos-exposed persons, with the aim of attempting to prevent cancer death in such early detected cases.

  18. Congenital brain infections.

    PubMed

    Arbelaez, Andres; Restrepo, Feliza; Davila, Jorge; Castillo, Mauricio

    2014-06-01

    Pediatric congenital intracranial infections are a group of different and important entities that constitute a small percentage of all pediatric infections. The causal factors and clinical presentations are different in children compared with adults. They require early recognition because delay diagnosis and initiation of treatment may have catastrophic consequences. Despite improvements in prenatal screening, vaccine safety, and antibiotics, infections of the central nervous system remain an important cause of neurological disabilities worldwide. This article reviews the most common congenital infections and their imaging findings.

  19. Congenital Toxoplasmosis: A Review.

    PubMed

    Hampton, Marissa Martinez

    2015-01-01

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

  20. Congenital muscular torticollis

    PubMed Central

    Nilesh, Kumar; Mukherji, Srijon

    2013-01-01

    Congenital muscular torticollis (CMT) is a rare congenital musculoskeletal disorder characterized by unilateral shortening of the sternocleidomastoid muscle (SCM). It presents in newborn infants or young children with reported incidence ranging from 0.3% to 2%. Owing to effective shortening of SCM on the involved side there is ipsilateral head tilt and contralateral rotation of the face and chin. This article reports a case of CMT in a 3½-year-old male child successfully managed by surgical release of the involved SCM followed by physiotherapy. PMID:24205484

  1. Congenital Hemolytic Anemia.

    PubMed

    Haley, Kristina

    2017-03-01

    Red blood cell (RBC) destruction can be secondary to intrinsic disorders of the RBC or to extrinsic causes. In the congenital hemolytic anemias, intrinsic RBC enzyme, RBC membrane, and hemoglobin disorders result in hemolysis. The typical clinical presentation is a patient with pallor, anemia, jaundice, and often splenomegaly. The laboratory features include anemia, hyperbilirubinemia, and reticulocytosis. For some congenital hemolytic anemias, splenectomy is curative. However, in other diseases, avoidance of drugs and toxins is the best therapy. Supportive care with transfusions are also mainstays of therapy. Chronic hemolysis often results in the formation of gallstones, and cholecystectomy is often indicated.

  2. Common Congenital Anomalies

    PubMed Central

    Lowry, R. B.

    1985-01-01

    Congenital anomalies account for a substantial proportion of childhood morbidity and mortality. They have become proportionately larger because of the decline of such other categories as infections or birth trauma. Approximately 3% of newborns have a serious handicapping or potentially lethal condition; in longterm studies the frequency is much higher. There is no good evidence to suggest that the rates of congenital anomalies are increasing, although this is a common perception. This article discusses diagnosis and management (especially genetic implications) of heart defects, neural tube defects, orofacial clefting, dislocated hip, clubfoot, and hypospadias. PMID:21274150

  3. Congenital Adrenal Hyperplasia

    PubMed Central

    Speiser, Phyllis W.

    2015-01-01

    Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group. As patients now survive into adulthood, adult health-care providers must also be familiar with this condition. Over the past several years, F1000 has published numerous commentaries updating research and practical guidelines for this condition. The purposes of this review are to summarize basic information defining congenital adrenal hyperplasia and to highlight current knowledge and controversies in management. PMID:26339484

  4. [The effect of clonidine on the intrapulmonary right-to-left shunt in one-lung ventilation in the dog].

    PubMed

    Lübbe, N; Bornscheuer, A; Kirchner, E

    1991-07-01

    Many vasoactive drugs--vasoconstrictors as well as vasodilators--impair the efficiency of hypoxic pulmonary vasoconstriction (HPV) and may cause dangerous hypoxemia during one-lung ventilation (1-LV). The effect of clonidine, a widely used alpha 2-agonistic antihypertensive agent, on intrapulmonary right-to-left shunt (Qs/Qt) during 1-LV has not yet been studied. METHODS. Twenty anesthetized beagle dogs were instrumented with a 7F Swan-Ganz catheter and an arterial line. A left thoracotomy in the lateral position was performed and the left main bronchus was prepared for clamping. Intravenous clonidine (5 micrograms/kg) was administered to 10 dogs. Anesthesia was maintained with either thiopental and fentanyl or halothane (0.8 insp. vol%) and fentanyl. The ventilatory frequency (100% O2, tidal volume 150 ml/kg) was adjusted to obtain an end-expiratory CO2 of 4.5%. Each dog underwent the following experimental sequence: (1) baseline measurements with 2-LV; (2) 20 min 1-LV (left lung atelectasis was achieved by clamping the left main bronchus); and (3) 20 min 2-LV. After allowing 30 min for conversion from i.v. to halothane anesthesia or vice versa, the procedure was repeated (5 dogs in each group received first i.v. and 5 dogs first halothane anesthesia). RESULTS. Qs/Qt was slightly but not significantly higher under halothane anesthesia in both groups during 1-LV as well as 2-LV (Table 1). No differences existed between the halothane and i.v. groups with regard to arterial pO2 and cardiac index. In the control group (i.v. or halothane, n = 20) Qs/Qt increased during 1-LV from 10.8 +/- 2.8% (mean +/- S.D.) to 26.6 +/- 5.5%, and in the clonidine group (i.v. or halothane, n = 20) from 7.2 +/- 2.3% to 18.3 +/- 5.4%. These differences between the control and clonidine groups are significant (P less than 0.001) for 1-LV as well as 2-LV. Arterial pO2 during 1-LV was reduced less in the clonidine group (573 +/- 48 to 390 +/- 99 mmHg) than in the control group (550 +/- 44 to

  5. Adult Congenital Heart Association

    MedlinePlus

    ... my congenital heart … Read More Let's Talk About Love... BY Kelly DiMaggio Being in love and in a relationship is one of the ... are born they have … Read More Learning to Love the Scar BY Clare Almand I wrote about ...

  6. Congenital adrenal hyperplasia

    MedlinePlus

    ... or inappropriately). Congenital adrenal hyperplasia can affect both boys and girls. About 1 in 10,000 to 18,000 ... penis but normal testes Well-developed muscles Both boys and girls will be tall as children, but much shorter ...

  7. Congenital sternal cleft.

    PubMed

    Biswas, G; Khandelwal, N K; Venkatramu, N K; Chari, P S

    2001-04-01

    A cleft of the sternum is a rare congenital anomaly. We present a case of a sternal cleft in a 7-year-old boy. A split iliac bone graft covered with the sternocostal portion of a pectoralis major flap was used to reconstruct the defect. Copyright 2001 The British Association of Plastic Surgeons.

  8. Efficiency of a New Mesh-Type Nebulizer (NE-SM1 NEPLUS) for Intrapulmonary Delivery of Ipratropium Bromide in Surgical Patients.

    PubMed

    Lee, Yong-Hun; Kwon, Gu-Youn; Park, Do-Yang; Bang, Ji-Yeon; Jang, Dong-Min; Lee, Soo-Han; Lee, Eun-Kyung; Choi, Byung-Moon; Noh, Gyu-Jeong

    2016-04-01

    This study was aimed to evaluate the efficiency of a new mesh-type nebulizer for the intrapulmonary delivery of ipratropium bromide in surgical patients under mechanical ventilation. A total of 20 patients were randomly allocated to receive 0.5 mg ipratropium bromide using either a control (Pariboy SX, Pari, Co., Starnberg, Germany, n = 10) or test (NE-SM1 NEPLUS, KTMED INC., Seoul, Korea, n = 10) nebulizer during general anaesthesia. Ipratropium bromide was nebulized continuously for 20 min. in each group. Plasma concentrations of ipratropium bromide were obtained from blood samples at preset intervals. Non-compartmental analysis of ipratropium bromide was performed to compare the efficiency of pulmonary drug delivery in both nebulizers. Population pharmacokinetic analysis of ipratropium bromide was performed. Additionally, the noise level during the nebulizer operation and the aerosol particle size for each device were measured. The dose-normalized AUC(last) was 0.10 min/L for both nebulizers. The pharmacokinetics of nebulized ipratropium bromide can be described best by a one-compartment model with first-order absorption. The apparent volume of distribution and metabolic clearance were 1340 L and 6.78 L/min, respectively. Type of nebulizer was a significant covariate for absorption rate constant. The equivalent sound level and median aerosol particle diameter were 35.0 dB and 4.52 μm for the test nebulizer, and 60.2 dB and 3.85 μm for the control nebulizer, respectively. From the standpoint of the dose-normalized AUC(last) , a new vibrating mesh-type nebulizer shows similar performance in the intrapulmonary delivery of ipratropium bromide to that of a jet-type nebulizer in surgical patients.

  9. Increased cardiac output, not pulmonary artery systolic pressure, increases intrapulmonary shunt in healthy humans breathing room air and 40% O2

    PubMed Central

    Elliott, Jonathan E; Duke, Joseph W; Hawn, Jerold A; Halliwill, John R; Lovering, Andrew T

    2014-01-01

    Blood flow through intrapulmonary arteriovenous anastomoses (IPAVAs) has been demonstrated to increase in healthy humans during a variety of conditions; however, whether or not this blood flow represents a source of venous admixture (/) that impairs pulmonary gas exchange efficiency (i.e. increases the alveolar-to-arterial difference (A–aDO2)) remains controversial and unknown. We hypothesized that blood flow through IPAVAs does provide a source of /. To test this, blood flow through IPAVAs was increased in healthy humans at rest breathing room air and 40% O2: (1) during intravenous adrenaline (epinephrine) infusion at 320 ng kg−1 min−1 (320 ADR), and (2) with vagal blockade (2 mg atropine), before and during intravenous adrenaline infusion at 80 ng kg−1 min−1 (ATR + 80 ADR). When breathing room air the A–aDO2 increased by 6 ± 2 mmHg during 320 ADR and by 5 ± 2 mmHg during ATR + 80 ADR, and the change in calculated / was +2% in both conditions. When breathing 40% O2, which minimizes contributions from diffusion limitation and alveolar ventilation-to-perfusion inequality, the A–aDO2 increased by 12 ± 7 mmHg during 320 ADR, and by 9 ± 6 mmHg during ATR + 80 ADR, and the change in calculated / was +2% in both conditions. During 320 ADR cardiac output () and pulmonary artery systolic pressure (PASP) were significantly increased; however, during ATR + 80 ADR only was significantly increased, yet blood flow through IPAVAs as detected with saline contrast echocardiography was not different between conditions. Accordingly, we suggest that blood flow through IPAVAs provides a source of intrapulmonary shunt, and is mediated primarily by increases in rather than PASP. PMID:25085889

  10. Upper hemibody and local chest irradiation as consolidation following response to high-dose induction chemotherapy for small cell bronchogenic carcinoma--a pilot study

    SciTech Connect

    Mason, B.A.; Richter, M.P.; Catalano, R.B.; Creech, R.B.

    1982-08-01

    Fourteen patients with small cell bronchogenic carcinoma, five with extensive disease and nine with localized disease, were treated with cyclophosphamide (1.5 g/m2 iv, Days 1 and 22), lomustine (70 mg/m2 orally, Day 1), and methotrexate (15 mg/m2 twice weekly during Weeks 2, 3, 5, and 6). UHBI (600 rads) was given during Week 6 in a single dose and LCI was given during Week 7 (2000 rads/five fractions) to the tumor and mediastinum. Maintenance chemotherapy began in Week 12 with cyclophosphamide (700 mg/m2 iv every 3 weeks) and lomustine (70 mg/m2 orally every 6 weeks). Twelve patients were evaluable for response and toxicity (eight with limited disease). There were three complete response and seven partial responses after induction chemotherapy. After completion of the consolidation radiation therapy, all 12 patients had a response: six complete responses and six partial responses. Acute toxic effects included nausea and vomiting in eight patients, fever in five, and hypotension and angina in one. Subacute toxic effects included nausea, vomiting, and dehydration in two patients who required hospitalization, prolonged aplasia in one, reversible radiation esophagitis in three. Three patients had radiation pneumonitis including one with bilateral diffuse disease that led to death from respiratory failure. Only two of 12 patients received their maintenance therapy on schedule. Treatment failures occurred within the LCI field in seven patients and in distant metastatic sites in six. The median time to first relapse was 7 months and the median survival was 9 months. Because of toxicity, treatment delays, and poor survival in this group of patients, we cannot recommend this combined modality approach.

  11. Fetal congenital lobar emphysema.

    PubMed

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

    2007-03-01

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

  12. Congenital Orbital Teratoma.

    PubMed

    Pellerano, Fernando; Guillermo, Elvis; Garrido, Gloreley; Berges, Pedro

    2017-01-01

    We report a case of congenital orbital teratoma. A 3-day-old male, born at 39 weeks' gestation without relevant prenatal history, presented with a large vascularized proptotic mass distorting the left midface. Laboratory studies showed elevated serum alpha-fetoprotein (12,910 ng/ml). Computed tomography showed a multiloculated heterogeneous lesion composed of hypodense and hyperdense calcified areas encompassing the whole orbital cavity with expansion of the bony walls, as well as forward displacement and compression of the eyeball without extension to surrounding structures. Clinical, imaging and laboratory features were consistent with congenital orbital teratoma. Due to pronounced proptosis with exposure keratopathy and corneal perforation, no motility of the globe and no vision in the affected eye in a resource-limited setting, the patient underwent orbital exenteration. Histopathological examination confirmed the diagnosis of mature cystic teratoma. We describe the clinical course, radiographic and histopathological findings of this rare orbital tumor.

  13. [Congenital esophageal diverticulum].

    PubMed

    Belío-Castillo, C; Bracho-Blanchet, E; Blanco-Rodríguez, G

    1990-08-01

    The congenital or acquired variety of esophageal diverticulum is a rare childhood disease. Reported is a case-study which deals with a five year old patient who arrived at our hospital complaining of a constricture at the cricopharyngeal level. A month later he returned to the hospital with dysphasia and regurgitation; the X-rays and endoscopic diagnosis showed stenosis of the esophagus and the presence of an esophageal diverticulum. Esophageal dilatations were carried out until an acceptable esophageal diameter was reached. Later on, the surgical removal of the diverticulum was performed without any complications. The histopathological study showed the congenital nature of the diverticulum. The patient's recovery went well and is currently considered as cured.

  14. Update on congenital glaucoma

    PubMed Central

    Mandal, Anil K; Chakrabarti, Debasis

    2011-01-01

    Congenital glaucoma is a global problem and poses a diagnostic and therapeutic challenge to the ophthalmologist. A detailed evaluation under general anesthesia is advisable to establish the diagnosis and plan for management. Medical therapy has a limited role and surgery remains the primary therapeutic modality. While goniotomy or trabeculotomy ab externo is valuable in the management of congenital glaucoma, primary combined trabeculotomy–trabeculectomy offers the best hope of success in advanced cases. Trabeculectomy with antifibrotic agent and glaucoma drainage devices has a role in the management of refractory cases, and cyclodestructive procedures should be reserved for patients where these procedures have failed. Early diagnosis, prompt therapeutic intervention and proper refractive correction are keys to success. Management of residual vision and visual rehabilitation should be an integral part of the management of children with low vision and lifelong follow-up is a must. PMID:21150027

  15. Congenital omental cyst

    PubMed Central

    Gupta, Rakesh Kumar; Sah, Suresh; Sah, Panna Lal; Shah, Birendra Prasad

    2012-01-01

    Congenital omental cysts are rare intra-abdominal pathology, which are difficult to diagnose preoperatively; as such a high index of suspicion is required for accurate preoperative diagnosis. We present a case of congenital omental cyst in a 3-year-old girl who presented with huge abdominal distension. We performed diagnostic examinations including ultrasonography and CT of the abdomen. An omental cyst was diagnosed because of its position and connection to the surrounding tissues. She was operated and cyst was excised completely. Histological examination revealed an omental cyst with endothelial lining and haemorrhagic fluid inside. She had an uneventful recovery and doing well, without recurrence at follow-up of 24 months. Clinicians must rigorously pursue a preoperative diagnosis, as it may prevent a surprise upon laparotomy and result in proper management. PMID:22865812

  16. Congenital Orbital Teratoma

    PubMed Central

    Pellerano, Fernando; Guillermo, Elvis; Garrido, Gloreley; Berges, Pedro

    2017-01-01

    We report a case of congenital orbital teratoma. A 3-day-old male, born at 39 weeks’ gestation without relevant prenatal history, presented with a large vascularized proptotic mass distorting the left midface. Laboratory studies showed elevated serum alpha-fetoprotein (12,910 ng/ml). Computed tomography showed a multiloculated heterogeneous lesion composed of hypodense and hyperdense calcified areas encompassing the whole orbital cavity with expansion of the bony walls, as well as forward displacement and compression of the eyeball without extension to surrounding structures. Clinical, imaging and laboratory features were consistent with congenital orbital teratoma. Due to pronounced proptosis with exposure keratopathy and corneal perforation, no motility of the globe and no vision in the affected eye in a resource-limited setting, the patient underwent orbital exenteration. Histopathological examination confirmed the diagnosis of mature cystic teratoma. We describe the clinical course, radiographic and histopathological findings of this rare orbital tumor. PMID:28275597

  17. Possible rare congenital dysinnervation disorder: congenital ptosis associated with adduction.

    PubMed

    Mendes, Sílvia; Beselga, Diana; Campos, Sónia; Neves, Arminda; Campos, Joana; Carvalho, Sílvia; Silva, Eduardo; Castro Sousa, João Paulo

    2015-01-01

    Ptosis is defined as an abnormally low position of the upper eyelid margin. It can be congenital or acquired, uni or bilateral, and isolated or associated with other ocular and nonocular defects. We report a case of a female child, aged 8 years, with congenital right ptosis increased on right adduction and with left ptosis on left adduction. There was no horizontal ocular movement limitation. Apparent underaction of the right inferior oblique muscle was also present. We believe that within the possible mechanisms it is more likely that it is a congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorder (CCDD).

  18. Congenital varicella syndrome.

    PubMed

    Sasidharan, C K; Anoop, P

    2003-01-01

    The fetal consequences of chickenpox complicating pregnancy depends on the period of gestation at which the infection is contracted. The extremely rare classical form of congenital varicella syndrome, resulting from maternal varicella infection in the first trimester of pregnancy, is being reported here. The unusual features in this baby are bilateral hypoplastic lower extremities, fracture of bones, a normal electroencephalogram and phantom hernias of the anterior abdominal wall.

  19. Congenital amaurosis of Leber.

    PubMed

    Gillespie, F D

    1966-05-01

    In two families with congenital amaurosis of Leber, keratoglobus was found in all affected members and posterior subcapsular cataracts in most of them. Consanguinity was present in one family. Pathologic findings in one enucleated eye were presented. The literature on this disease was briefly reviewed. Whether the disease is a definite clinical or genetic entity and whether it might be an agenesis or an abiotrophy, or both, were discussed.

  20. Congenital midline cervical cleft.

    PubMed

    Agag, Richard; Sacks, Justin; Silver, Lester

    2007-01-01

    Congenital midline cervical cleft (CMCC) is a rare disorder of the ventral neck that is clinically evident at birth and must be differentiated from the more common thyroglossal duct cyst. The case of CMCC presented here was associated with chromosomes 13/14 de novo Robertsonian translocations as well as midline deformities including a sacral tuft and a minor tongue-tie. The case is presented as well as discussion of histopathology, embryology, and surgical treatment.

  1. Leber congenital amaurosis.

    PubMed

    Perrault, I; Rozet, J M; Gerber, S; Ghazi, I; Leowski, C; Ducroq, D; Souied, E; Dufier, J L; Munnich, A; Kaplan, J

    1999-10-01

    Leber's congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies responsible for congenital blindness. Genetic heterogeneity of LCA has been suspected since the report by Waardenburg of normal children born to affected parents. In 1995, we localized the first disease causing gene, LCA1, to chromosome 17p13 and confirmed the genetic heterogeneity. In 1996, we ascribed LCA1 to mutations in the photoreceptor-specific guanylate cyclase gene (retGC1). RetGC1 is an essential protein implicated in the phototransduction cascade, especially in the recovery of the dark state after the excitation process of photoreceptor cells by light stimulation. In 1997, mutations in a second gene were reported in LCA, the RPE65 gene, which is the first specific retinal pigment epithelium gene. The protein RPE65 is implicated in the metabolism of vitamin A, the precursor of the photoexcitable retinal pigment (rhodopsin). Finally, a third gene, CRX, implicated in photoreceptor development, has been suspected of causing a few cases of LCA. Taken together, these three genes account for only 27% of LCA cases in our series. The three genes encode proteins that are involved in completely different physiopathologic pathways. Based on these striking differences of physiopathologic processes, we reexamined all clinical physiopathological discrepancies and the results strongly suggested that retGC1 gene mutations are responsible for congenital stationary severe cone-rod dystrophy, while RPE65 gene mutations are responsible for congenital severe but progressive rod-cone dystrophy. It is of tremendous importance to confirm and to refine these genotype-phenotype correlations on a large scale in order to anticipate the final outcome in a blind infant, on the one hand, and to further guide genetic studies in older patients on the other hand.

  2. Myopathology in congenital myopathies.

    PubMed

    Sewry, C A; Wallgren-Pettersson, C

    2017-02-01

    Congenital myopathies are clinically and genetically a heterogeneous group of early onset neuromuscular disorders, characterized by hypotonia and muscle weakness. Clinical severity and age of onset are variable. Many patients are severely affected at birth while others have a milder, moderately progressive or nonprogressive phenotype. Respiratory weakness is a major clinical aspect that requires regular monitoring. Causative mutations in several genes have been identified that are inherited in a dominant, recessive or X-linked manner, or arise de novo. Muscle biopsies show characteristic pathological features such as nemaline rods/bodies, cores, central nuclei or caps. Small type 1 fibres expressing slow myosin are a common feature and may sometimes be the only abnormality. Small cores (minicores) devoid of mitochondria and areas showing variable myofibrillar disruption occur in several neuromuscular disorders including several forms of congenital myopathy. Muscle biopsies can also show more than one structural defect. There is considerable clinical, pathological and genetic overlap with mutations in one gene resulting in more than one pathological feature, and the same pathological feature being associated with defects in more than one gene. Increasing application of whole exome sequencing is broadening the clinical and pathological spectra in congenital myopathies, but pathology still has a role in clarifying the pathogenicity of gene variants as well as directing molecular analysis. © 2016 British Neuropathological Society.

  3. Congenital hearing loss.

    PubMed

    Korver, Anna M H; Smith, Richard J H; Van Camp, Guy; Schleiss, Mark R; Bitner-Glindzicz, Maria A K; Lustig, Lawrence R; Usami, Shin-Ichi; Boudewyns, An N

    2017-01-12

    Congenital hearing loss (hearing loss that is present at birth) is one of the most prevalent chronic conditions in children. In the majority of developed countries, neonatal hearing screening programmes enable early detection; early intervention will prevent delays in speech and language development and has long-lasting beneficial effects on social and emotional development and quality of life. A diagnosis of hearing loss is usually followed by a search for an underlying aetiology. Congenital hearing loss might be attributed to environmental and prenatal factors, which prevail in low-income settings; congenital infections, particularly cytomegalovirus infection, are also a common risk factor for hearing loss. Genetic causes probably account for the majority of cases in developed countries; mutations can affect any component of the hearing pathway, in particular, inner ear homeostasis (endolymph production and maintenance) and mechano-electrical transduction (the conversion of a mechanical stimulus into electrochemical activity). Once the underlying cause of hearing loss is established, it might direct therapeutic decision making and guide prevention and (genetic) counselling. Management options include specific antimicrobial therapies, surgical treatment of craniofacial abnormalities and implantable or non-implantable hearing devices. An improved understanding of the pathophysiology and molecular mechanisms that underlie hearing loss and increased awareness of recent advances in genetic testing will promote the development of new treatment and screening strategies.

  4. Severe congenital neutropenias.

    PubMed

    Skokowa, Julia; Dale, David C; Touw, Ivo P; Zeidler, Cornelia; Welte, Karl

    2017-06-08

    Severe congenital neutropenias are a heterogeneous group of rare haematological diseases characterized by impaired maturation of neutrophil granulocytes. Patients with severe congenital neutropenia are prone to recurrent, often life-threatening infections beginning in their first months of life. The most frequent pathogenic defects are autosomal dominant mutations in ELANE, which encodes neutrophil elastase, and autosomal recessive mutations in HAX1, whose product contributes to the activation of the granulocyte colony-stimulating factor (G-CSF) signalling pathway. The pathophysiological mechanisms of these conditions are the object of extensive research and are not fully understood. Furthermore, severe congenital neutropenias may predispose to myelodysplastic syndromes or acute myeloid leukaemia. Molecular events in the malignant progression include acquired mutations in CSF3R (encoding G-CSF receptor) and subsequently in other leukaemia-associated genes (such as RUNX1) in a majority of patients. Diagnosis is based on clinical manifestations, blood neutrophil count, bone marrow examination and genetic and immunological analyses. Daily subcutaneous G-CSF administration is the treatment of choice and leads to a substantial increase in blood neutrophil count, reduction of infections and drastic improvement of quality of life. Haematopoietic stem cell transplantation is the alternative treatment. Regular clinical assessments (including yearly bone marrow examinations) to monitor treatment course and detect chromosomal abnormalities (for example, monosomy 7 and trisomy 21) as well as somatic pre-leukaemic mutations are recommended.

  5. [Congenital insensitivity to pain].

    PubMed

    Popko, Janusz; Karpiński, Michał; Guszczyn, Tomasz

    2014-02-01

    Congenital insensitivity to pain belongs to rare diseases called hereditary sensory neuropathy (HSN). The disturbance of sense and secondary harms are creating clinical picture. The aim of this report was to describe therapeutic problems with which we met with a three siblings with congenital insensitivity to pain. The authors have described three children with congenital insensitivity to pain. The disease was diagnosed at the age of 3-5. These children painlessly have broken their lower limbs. These fractures were late diagnosed what resulted in a badly healed deformation of legs. For this reason, the right knee of the oldest boy had to be stiffened. This boy had also late diagnosed the left hip luxation, and hematomas had arisen, which become filled with pus. The boy was in sepsis and a dramatic life-and-death struggle was performed. A purulent focuses were removed from abdomen and femoral head was also resected. The other two siblings had fractures and infections, but not such severe as the oldest boy. It is well known that a causal treatment of this disease in unknown. Patients must learn to avoid mechanical and thermal trauma. It is the only way to prevent complications of this disease.

  6. Congenital abnormalities and multiple sclerosis.

    PubMed

    Ramagopalan, Sreeram V; Guimond, Colleen; Criscuoli, Maria; Dyment, David A; Orton, Sarah-Michelle; Yee, Irene M; Ebers, George C; Sadovnick, Dessa

    2010-11-16

    There is a strong maternal parent-of-origin effect in determining susceptibility to multiple sclerosis (MS). One hypothesis is that an abnormal intrauterine milieu leading to impaired fetal development could plausibly also result in increased susceptibility to MS. A possible marker for this intrauterine insult is the presence of a non-fatal congenital anomaly. We investigated whether or not congenital anomalies are associated with MS in a population-based cohort. We identified 7063 MS index cases and 2655 spousal controls with congenital anomaly information from the Canadian Collaborative Project on Genetic Susceptibility to MS (CCPGSMS). The frequency of congenital anomalies were compared between index cases and controls. No significant differences were found. Congenital anomalies thus do not appear to be associated with MS. However, we did not have complete data on types and severity of congenital anomalies or on maternal birth history and thus this study should be regarded as preliminary.

  7. Radiology of congenital heart disease

    SciTech Connect

    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.

  8. [Congenital knee dislocation: case report].

    PubMed

    Arvinius, C; Luque, R; Díaz-Ceacero, C; Marco, F

    2016-01-01

    Congenital knee dislocation is an infrequent condition with unknown etiology. In some cases it occurs as an isolated condition, while in others it coexists with associated conditions or syndromes. The treatment of congenital knee dislocation is driven by the severity and flexibility of the deformity. The literature includes from serial casting or the Pavlik harness to quadriceps tendon plasty or femoral osteotomies. We report herein the case of a congenital dislocation treated with serial casting with a good outcome.

  9. Living with a Congenital Heart Defect

    MedlinePlus

    ... congenital heart disease. Google+ Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/ ... 2013, in the journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI- ...

  10. Molecular and Genetic Studies of Congenital Myopathies

    ClinicalTrials.gov

    2016-12-08

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

  11. Role of the epithelium in opposing H2O2-induced modulation of acetylcholine-induced contractions in rabbit intrapulmonary bronchiole

    PubMed Central

    Asano, Takayuki; Hattori, Tomonori; Tada, Toyohiro; Kajikuri, Junko; Kamiya, Toshio; Saitoh, Michihiro; Yamada, Yasuo; Itoh, Makoto; Itoh, Takeo

    2001-01-01

    The role played by the epithelium in H2O2-induced modulation of the mechanical responses induced by acetylcholine (ACh) in rabbit intrapulmonary bronchioles was investigated in epithelium-intact and -denuded strips. When ACh (3 μM) was applied intermittently, H2O2 (30 μM) enhanced the ACh-induced contractions in epithelium-intact strips. In contrast, in epithelium-denuded strips H2O2 (30 μM) inhibited such contractions. At higher concentrations, H2O2 concentration-dependently attenuated the ACh-induced contractions in both epithelium-intact and -denuded strips, its action being more potent in the latter strips than in the former. Diclofenac (a cyclo-oxygenase inhibitor; 3 μM) reduced the H2O2-induced enhancement of ACh-contractions in epithelium-intact strips but had no effect on the H2O2-induced inhibition in epithelium-denuded strips. NG-nitro-L-arginine did not alter the effect of H2O2 on ACh-induced contractions in epithelium-intact strips. Catalase (500 u ml−1) completely blocked both H2O2-induced effects on ACh-contractions (enhancement and inhibition). Neither superoxide dismutase (200 u ml−1) nor deferoxamine (0.5 mM) had any effect on H2O2-induced inhibition in epithelium-denuded strips. Aminotriazole (an inhibitor of catalase; 50 mM) significantly potentiated the H2O2-induced inhibition of ACh-contractions in epithelium-intact strips but not in epithelium-denuded strips. The density ratio for catalase (epithelium-intact over -denuded strips) analysed by Western blot was about 2.1, suggesting that epithelium contains more catalase than smooth muscle. It is concluded that in rabbit intrapulmonary bronchioles, H2O2 has dual actions on ACh-contractions. It is suggested that the epithelium may act as a powerful biochemical barrier via both the action of catalase (scavenging H2O2) and the release of bronchoconstrictor prostaglandins, thus attenuating the H2O2-induced modulation of ACh-contractions. PMID:11250878

  12. Congenital protein hypoglycosylation diseases

    PubMed Central

    Sparks, Susan E

    2012-01-01

    Glycosylation is an essential process by which sugars are attached to proteins and lipids. Complete lack of glycosylation is not compatible with life. Because of the widespread function of glycosylation, inherited disorders of glycosylation are multisystemic. Since the identification of the first defect on N-linked glycosylation in the 1980s, there are over 40 different congenital protein hypoglycosylation diseases. This review will include defects of N-linked glycosylation, O-linked glycosylation and disorders of combined N- and O-linked glycosylation. PMID:23776380

  13. Congenital Horner's syndrome.

    PubMed

    Weinstein, J M; Zweifel, T J; Thompson, H S

    1980-06-01

    Patients with congenital Horner's syndrome (who seemed, on the basis of their clinical history and the distribution fo anhidrosis, to have a preganglionic lesion) had partial mydriatic failure with hydroxyamphetamine hydrobromide and a supersensitivity to phenylephrine hydrochloride. This apparent paradox can be readily explained by postulating an aorthograde transsynaptic dysgenesis of the postganglionic neuron, such as has been demonstrated in the sympathetic nervous system of newborn animals. The failure of hydroxyamphetamine to cause mydriasis indicates damage to the postganglionic sympathetic neuron, but in the neonate this damage may be secondary to a preganglionic lesion.

  14. Congenital syphilis: an unusual presentation.

    PubMed

    Dzebolo, N N

    1980-08-01

    Congenital syphilis was discovered in a neonate with the unusual radiographic presentation of unilateral involvement of three bones showing lytic lesions and periostitis. Congenital syphilis should be considered in a newborn infant with these radiographic manifestations, especially when a suggestive history is obtained.

  15. [Congenital defects and incapacity].

    PubMed

    Jouve de la Barreda, Nicolás

    2009-01-01

    As a whole the congenital defects constitute an important section of the medical attention affecting near 3% of the population. A 15% of spontaneous abortions take place of which the greater frequency corresponds to the chromosome anomalies (25%) and the monogenic mutations (20%) and in a lesser extent to the effects of teratogenic agents. Between the genetic causes determining the congenital defects the mutations that affect genes acting in the early stages of development occupy a main place. These alterations can affect to homeotic genes or monogenic systems that act during the critical phases of the organogenesis. It seems evident that an alteration in the expression of a necessary gene for the appearance of a morphogenetic change constitutes the angular stone to understand resurging of a malformation or discapacity. In the last years has been demonstrated the importance of the teratogenic or environmental agents on the delicate internal physiological balance during the critical stages of the development. In this context must be included the inductive environmental factors inducing epigenetic modifications in the early stage of the development of the embryos produced by fertilization in vitro.

  16. Cataracts in Congenital Toxoplasmosis

    PubMed Central

    Arun, Veena; Noble, A. Gwendolyn; Latkany, Paul; Troia, Robert N.; Jalbrzikowski, Jessica; Kasza, Kristen; Karrison, Ted; Cezar, Simone; Sautter, Mari; Greenwald, Mark J.; Mieler, William; Mets, Marilyn B.; Alam, Ambereen; Boyer, Kenneth; Swisher, Charles N.; Roizen, Nancy; Rabiah, Peter; Del Monte, Monte A.; McLeod, Rima

    2008-01-01

    Purpose To determine the incidence and natural history of cataracts in children with congenital toxoplasmosis. Methods Children referred to the National Collaborative Chicago-based Congenital Toxoplasmosis Study (NCCCTS) between 1981 and 2005 were examined by ophthalmologists at predetermined times according to a specific protocol. The clinical course and treatment of patients who developed cataracts was reviewed. Results In the first year of life, 134 of 173 children examined were treated with pyrimethamine, sulfadiazine, and Leucovorin, while the remaining 39 were not treated. Cataracts occurred in 27 eyes of 20 patients (11.6%, 95% confidence interval [7.2%, 17.3%]). Fourteen cataracts were present at birth, and 13 developed postnatally. Locations of the cataracts included anterior polar (3 eyes), anterior subcapsular (6), nuclear (5), posterior subcapsular (7), and unknown (6). Thirteen cataracts were partial, 9 total, and 5 with unknown complexity. Twelve cataracts remained stable, 12 progressed, and progression was not known for 3. Five of 27 eyes had cataract surgery, with 2 of these developing glaucoma. Sixteen eyes of 11 patients had retinal detachment and cataract. All eyes with cataracts had additional ocular lesions. Conclusions In the NCCCTS cohort, 11.6% of patients were diagnosed with cataracts. There was considerable variability in the presentation, morphology, and progression of the cataracts. Associated intraocular pathology was an important cause of morbidity. PMID:18086432

  17. [Genetics of congenital deafness].

    PubMed

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

    2012-10-20

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

  18. Comparison of Intrapulmonary and Systemic Pharmacokinetics of Colistin Methanesulfonate (CMS) and Colistin after Aerosol Delivery and Intravenous Administration of CMS in Critically Ill Patients

    PubMed Central

    Boisson, Matthieu; Jacobs, Matthieu; Grégoire, Nicolas; Gobin, Patrice; Marchand, Sandrine; Mimoz, Olivier

    2014-01-01

    Colistin is an old antibiotic that has recently gained a considerable renewal of interest for the treatment of pulmonary infections due to multidrug-resistant Gram-negative bacteria. Nebulization seems to be a promising form of administration, but colistin is administered as an inactive prodrug, colistin methanesulfonate (CMS); however, differences between the intrapulmonary concentrations of the active moiety as a function of the route of administration in critically ill patients have not been precisely documented. In this study, CMS and colistin concentrations were measured on two separate occasions within the plasma and epithelial lining fluid (ELF) of critically ill patients (n = 12) who had received 2 million international units (MIU) of CMS by aerosol delivery and then intravenous administration. The pharmacokinetic analysis was conducted using a population approach and completed by pharmacokinetic-pharmacodynamic (PK-PD) modeling and simulations. The ELF colistin concentrations varied considerably (9.53 to 1,137 mg/liter), but they were much higher than those in plasma (0.15 to 0.73 mg/liter) after aerosol delivery but not after intravenous administration of CMS. Following CMS aerosol delivery, typically, 9% of the CMS dose reached the ELF, and only 1.4% was presystemically converted into colistin. PK-PD analysis concluded that there was much higher antimicrobial efficacy after CMS aerosol delivery than after intravenous administration. These new data seem to support the use of aerosol delivery of CMS for the treatment of pulmonary infections in critical care patients. PMID:25267660

  19. Acute effects of intrapulmonary percussive ventilation in COPD patients assessed by using conventional outcome parameters and a novel computational fluid dynamics technique

    PubMed Central

    Ides, Kris; Vos, Wim; De Backer, Lieve; Vissers, Dirk; Claes, Rita; Leemans, Glenn; Ongena, Kevin; Peters, Oswald; De Backer, Wilfried

    2012-01-01

    Objective: Chest physiotherapy enhances sputum evacuation in COPD patients. It can be applied as a single technique or as a combination of techniques including intrapulmonary percussive ventilation (IPV). Recently developed assessment techniques may provide new insights into the effect of airway clearance techniques. Participants: Five moderate to severe COPD patients (three females and two males; mean forced expiratory volume in 1 second of 39.49% predicted) who were admitted in the hospital for an acute exacerbation were included in this study. Methods: A novel imaging technique was used, together with other conventional techniques, to visualize the short-term effects of a single IPV treatment in COPD patients. Results: No significant changes were noted in the lung function parameters or arterial blood gases measured within 1 hour after the end of the IPV session. Computed tomography images detected changes in the airway patency after the IPV treatment compared with before treatment. Local resistances, calculated for the three-dimensional models, showed local changes in airway resistance. Conclusion: The effects of a single IPV session can be visualized by functional imaging. This functional imaging allows a calculation of changes in local airway resistance and local changes in airway volume in COPD patients without affecting conventional lung function parameters. PMID:23055715

  20. Is there any effect of volcanic eruptions of Mount Sakurajima on human lungs?--histopathological investigation and measurement of intrapulmonary particulate deposits amounts.

    PubMed

    Kariya, M

    1992-03-01

    In order to investigate effects of volcanic eruptions of Mt. Sakurajima on human lungs, an amount of intrapulmonary particulate deposits (IPD) and histopathological changes were evaluated, using autopsied lungs of deceased residents of Kagoshima (the area affected most by the volcanic eruptions of Mt. Sakurajima, n = 66) in comparison with those of Saitama (n = 73). The amount of IPD was measured by macroscopic image analysis and by alkaline extraction. Correlation was seen in the IPD values obtained by these two methods (Spearman's correlation coefficient: 0.525). The IPD value measured through chemical digestion, which increased with age, was lower in the residents of Kagoshima (17.0 +/- 6.3 mg/g) than in those of Saitama (26.8 +/- 10.6 mg/g). This difference of IPD value between Kagoshima and Saitama residents was also observed in male, female, smoker and nonsmoker subgroups. The incidence of pulmonary emphysema was not different between Kagoshima and Saitama cases. No silicotic nodules were observed in any cases. But, the incidence of bronchial goblet cell hyperplasia and squamous metaplasia in Kagoshima was higher than that in Saitama in male cases and smoker cases. In Kagoshima cases, the incidence of squamous metaplasia was significantly higher in smokers than in nonsmokers. The synergistic influence of volcanic eruptions and cigarette smoking on human airways was suggested.

  1. Comparison of intrapulmonary and systemic pharmacokinetics of colistin methanesulfonate (CMS) and colistin after aerosol delivery and intravenous administration of CMS in critically ill patients.

    PubMed

    Boisson, Matthieu; Jacobs, Matthieu; Grégoire, Nicolas; Gobin, Patrice; Marchand, Sandrine; Couet, William; Mimoz, Olivier

    2014-12-01

    Colistin is an old antibiotic that has recently gained a considerable renewal of interest for the treatment of pulmonary infections due to multidrug-resistant Gram-negative bacteria. Nebulization seems to be a promising form of administration, but colistin is administered as an inactive prodrug, colistin methanesulfonate (CMS); however, differences between the intrapulmonary concentrations of the active moiety as a function of the route of administration in critically ill patients have not been precisely documented. In this study, CMS and colistin concentrations were measured on two separate occasions within the plasma and epithelial lining fluid (ELF) of critically ill patients (n = 12) who had received 2 million international units (MIU) of CMS by aerosol delivery and then intravenous administration. The pharmacokinetic analysis was conducted using a population approach and completed by pharmacokinetic-pharmacodynamic (PK-PD) modeling and simulations. The ELF colistin concentrations varied considerably (9.53 to 1,137 mg/liter), but they were much higher than those in plasma (0.15 to 0.73 mg/liter) after aerosol delivery but not after intravenous administration of CMS. Following CMS aerosol delivery, typically, 9% of the CMS dose reached the ELF, and only 1.4% was presystemically converted into colistin. PK-PD analysis concluded that there was much higher antimicrobial efficacy after CMS aerosol delivery than after intravenous administration. These new data seem to support the use of aerosol delivery of CMS for the treatment of pulmonary infections in critical care patients.

  2. Congenital stationary night blindness presenting as Leber's congenital amaurosis.

    PubMed

    Weleber, R G; Tongue, A C

    1987-03-01

    Two siblings with autosomal-recessive congenital stationary night blindness were clinically blind in infancy. Both had markedly abnormal electroretinograms that, in the first child, led consultants at two university centers to make the diagnosis of Leber's congenital amaurosis. The patients had intermittent nystagmus and esotropia, but good photopic vision developed eventually. Scotopic vision was clearly defective in each child. Refractive error in both patients was close to emetropic in early infancy but became myopic by 1 year of age. Congenital stationary night blindness must be considered in the differential diagnosis of the blind infant.

  3. Congenital lobar emphysema: 30-year case series in two university hospitals*

    PubMed Central

    Cataneo, Daniele Cristina; Rodrigues, Olavo Ribeiro; Hasimoto, Erica Nishida; Schmidt, Aurelino Fernandes; Cataneo, Antonio José Maria

    2013-01-01

    OBJECTIVE: To review the cases of patients with congenital lobar emphysema (CLE) submitted to surgical treatment at two university hospitals over a 30-year period. METHODS: We reviewed the medical records of children with CLE undergoing surgical treatment between 1979 and 2009 at the Botucatu School of Medicine Hospital das Clínicas or the Mogi das Cruzes University Hospital. We analyzed data regarding symptoms, physical examination, radiographic findings, diagnosis, surgical treatment, and postoperative follow-up. RESULTS: During the period studied, 20 children with CLE underwent surgery. The mean age at the time of surgery was 6.9 months (range, 9 days to 4 years). All of the cases presented with symptoms at birth or during the first months of life. In all cases, chest X-rays were useful in defining the diagnosis. In cases of moderate respiratory distress, chest CT facilitated the diagnosis. One patient with severe respiratory distress was misdiagnosed with hypertensive pneumothorax and underwent chest tube drainage. Only patients with moderate respiratory distress were submitted to bronchoscopy, which revealed no tracheobronchial abnormalities. The surgical approach was lateral muscle-sparing thoracotomy. The left upper and middle lobes were the most often affected, followed by the right upper lobe. Lobectomy was performed in 18 cases, whereas bilobectomy was performed in 2 (together with bronchogenic cyst resection in 1 of those). No postoperative complications were observed. Postoperative follow-up time was at least 24 months (mean, 60 months), and no late complications were observed. CONCLUSIONS: Although CLE is an uncommon, still neglected disease of uncertain etiology, the radiological diagnosis is easily made and surgical treatment is effective. PMID:24068262

  4. Hybrid interventional procedures in congenital heart disease.

    PubMed

    Holoshitz, Noa; Kenny, Damien; Hijazi, Ziyad M

    2014-01-01

    The evolution of congenital cardiac surgery has seen significant innovative advances in collaborative efforts between congenital cardiac surgeons and interventionalists to provide the least invasive intervention with the greatest hemodynamic benefit for patients with congenital heart disease. This review looks at how this collaborative approach has evolved and is being applied to treat a number of congenital conditions across the age ranges.

  5. Characterizing congenital amusia.

    PubMed

    Stewart, Lauren

    2011-04-01

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

  6. Congenital sensorineural hearing loss

    SciTech Connect

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-02-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems.

  7. Congenital adrenal hyperplasia.

    PubMed

    Merke, Deborah P; Bornstein, Stefan R

    Congenital adrenal hyperplasia (CAH) due to deficiency of 21-hydroxylase is a disorder of the adrenal cortex characterised by cortisol deficiency, with or without aldosterone deficiency, and androgen excess. Patients with the most severe form also have abnormalities of the adrenal medulla and epinephrine deficiency. The severe classic form occurs in one in 15,000 births worldwide, and the mild non-classic form is a common cause of hyperandrogenism. Neonatal screening for CAH and gene-specific prenatal diagnosis are now possible. Standard hormone replacement fails to achieve normal growth and development for many children with CAH, and adults can experience iatrogenic Cushing's syndrome, hyperandrogenism, infertility, or the development of the metabolic syndrome. This Seminar reviews the epidemiology, genetics, pathophysiology, diagnosis, and management of CAH, and provides an overview of clinical challenges and future therapies.

  8. [Congenital lobar emphysema].

    PubMed

    Belio-Castillo, C; Prado-Pallares, M; Blanco-Rodríguez, G

    1991-05-01

    This article includes the way cases of congenital lobe emphysema were treated at the Hospital Infantil de México "Federico Gómez" during 1971 to 1989. A total of 17 cases were gathered, 13 were males and 4 were females; admittance age varied from 13 days to 3 years. The children's main symptoms were respiratory failure and cyanosis. The diagnosis was enhanced by a chest X-ray where lobe hyperclarity was detected, as well as a deviation of the mediastinum and a collapsed lung. A lobectomy was performed in all cases. The upper left lobe was seen to be the most affected. Two of the children died. It is important to recognize this disease early on and conduct prompt surgical treatment.

  9. Congenital macroglossal angiodysplasia ("Lymphangioendotheliomatosis").

    PubMed

    Bakaeen, G; Winkler, S; Bakaeen, L; Rehani, L A; Katsetos, C D

    2000-09-01

    A case of congenital lingual angiodysplasia with macroglossia in a 5-year-old girl is presented. A diffusely enlarged tongue was present at birth and continued to grow as the child aged. It was accompanied by impaired speech, difficulty in eating and breathing, and sleep apnea, necessitating surgical intervention. The fundamental lesion represents a complex vascular malformation of the lymphangioma-hemangioma type, involving extensively the deep musculature of the tongue. Multifocal and multicentric cavernous lymphangioma-like and hemangioma-like areas merge with benign angioendotheliomatous-like foci in a background of variable muscle degeneration and marked fibrosis. Neither a borderline nor an overtly malignant vasoformative neoplasm was present. Because of its distinctively widespread, multicentric intramuscular distribution, this lesion may be construed as a diffuse variant of lingual lymphangioma-hemangioma malformation, closely resembling a previously described case of macroglossal lymphangioendotheliomatosis.

  10. Congenital mirror movements.

    PubMed Central

    Schott, G D; Wyke, M A

    1981-01-01

    In this report are described seven patients assessed clinically and neuropsychologically in whom mirror movements affecting predominantly the hands occurred as a congenital disorder. These mirror movements, representing a specific type of abnormal synkinesia, may arise as a hereditary condition, in the presence of a recognisable underlying neurological abnormality, and sporadically, and the seven patients provide more or less satisfactory examples of each of these three groups. Despite the apparent uniformity of the disorder, the heterogeneity and variability may be marked, examples in some of our patients including the pronounced increase in tone that developed with arm movement, and the capacity for modulation of the associated movement by alteration of neck position and bio-feedback. Various possible mechanisms are considered; these include impaired cerebral inhibition of unwanted movements, and functioning of abnormal motor pathways. Emphasis has been placed on the putative role of the direct, crossed corticomotoneurone pathways and on the unilateral and bilateral cerebral events that precede movement. PMID:7288446

  11. Congenital heart defects and medical imaging.

    PubMed

    Gehin, Connie; Ragsdale, Lisa

    2013-01-01

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

  12. Genetics Home Reference: congenital afibrinogenemia

    MedlinePlus

    ... Neerman-Arbez M. FGB mutations leading to congenital quantitative fibrinogen deficiencies: an update and report of four ... qualified healthcare professional . About Selection Criteria for Links Data Files & API Site Map Customer Support USA.gov ...

  13. Photoaversion in Leber's congenital amaurosis.

    PubMed

    Traboulsi, E I; Maumenee, I H

    1995-03-01

    Photoaversion is a prominent symptom of a number of infantile genetic ocular disorder such as congenital glaucoma, aniridia, albinism, and cone dystrophies including achromatopsia. Photoaversion has not been widely recognized as a clinical feature of Leber's congenital amaurosis. We present two patients who were diagnosed clinically with achromatopsia because of nystagmus, absent color vision, reduced visual acuity, and moderately severe photoaversion in the absence of anterior segment abnormalities. The photopic and scotopic responses of the electroretinogram (E R G) were nonrecordable in both patients indicating involvement of both cone and rod systems. The diagnosis was then revised to one of Leber's congenital amaurosis. Photoaversion can be a prominent clinical feature in some patients with Leber's congenital amaurosis. The E R G clinches the diagnosis. These patients may constitute a distinct genetic subtype of the disease and molecular genetic studies will help resolve this issue.

  14. Why Search for Congenital Defects?

    PubMed Central

    Collins, John F.

    1966-01-01

    The causation of congenital malformation is receiving increased study. In Canada, epidemiologic surveys are being planned, based upon the institution of Provincial Registries to which physicians and other agencies will voluntarily report cases coming to their attention. The literature in regard to prevalence studies of congenital cardiac defects in school children is reviewed. Over the past 25 years, studies employing the proposed technique demonstrated a rising trend, from 1.4 per 1000 to 2.6 per 1000. By contrast, specific surveys for congenital cardiac defect carried out by expert personnel using radiographs and electrocardiographs, resulted in essentially uniform rates, approximating 5 to 6 per 1000. It is concluded that the latter is a superior technique of epidemiologic survey over the “Central Registry” method, and should command a due proportion of health resources directed towards congenital malformation research. PMID:5914837

  15. Congenital Syngnathia; Turmoils and Tragedy

    PubMed Central

    Sarin, Yogesh Kumar; Raj, Prince; Arya, Mona; Dali, Jaspal Singh

    2017-01-01

    Congenital syngnathia is an extremely rare condition with no standardized treatment. We hereby report a case highlighting the difficulties faced in its management and the postoperative complications. PMID:28083498

  16. [Congenital Adrenal Hyperplasia in Adults].

    PubMed

    Vrbíková, Jana

    2016-01-01

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

  17. Congenital abnormalities and selective abortion.

    PubMed

    Seller, M J

    1976-09-01

    The technique of amniocentesis, by which an abnormal fetus can be detected in utero, has brought a technological advance in medical science but attendant medical and moral problems. Dr Seller describes those congenital disabilities which can be detected in the fetus before birth, for which the "remedy" is selective abortion. She then discusses the arguments for and against selective abortion, for the issue is not simple, even in the strictly genetic sense of attempting to ensure a population free of congenital abnormality.

  18. An Overview of Congenital Myopathies.

    PubMed

    Mah, Jean K; Joseph, Jeffrey T

    2016-12-01

    This article uses a case-based approach to highlight the clinical features as well as recent advances in molecular genetics, muscle imaging, and pathophysiology of the congenital myopathies. Congenital myopathies refer to a heterogeneous group of genetic neuromuscular disorders characterized by early-onset muscle weakness, hypotonia, and developmental delay. Congenital myopathies are further classified into core myopathies, centronuclear myopathies, nemaline myopathies, and congenital fiber-type disproportion based on the key pathologic features found in muscle biopsies. Genotype and phenotype correlations are hampered by the diverse clinical variability of the genes responsible for congenital myopathies, ranging from a severe neonatal course with early death to mildly affected adults with late-onset disease. An increasing number of genes have been identified, which, in turn, are associated with overlapping morphologic changes in the myofibers. Precise genetic diagnosis has important implications for disease management, including family counseling; avoidance of anesthetic-related muscle injury for at-risk individuals; monitoring for potential cardiac, respiratory, or orthopedic complications; as well as for participation in clinical trials or potential genetic therapies. Collaboration with neuromuscular experts, geneticists, neuroradiologists, neuropathologists, and other specialists is needed to ensure accurate and timely diagnosis based on clinical and pathologic features. An integrated multidisciplinary model of care based on expert-guided standards will improve quality of care and optimize outcomes for patients and families with congenital myopathies.

  19. [Congenital heart diseases in women].

    PubMed

    Putotto, Carolina; Unolt, Marta; Caiaro, Angela; Marino, Dario; Massaccesi, Valerio; Marino, Bruno; Digilio, Maria Cristina

    2013-02-01

    Are there gender differences in prevalence, surgical results and long-term survival of patients with congenital heart disease? Available literature data allow us to state what follows. At birth there is a mild but significant prevalence of congenital heart disease in females. The most severe congenital heart diseases are less frequent in girls, but when they are present in females, they are linked to a higher surgical mortality rate, due perhaps to lower weight at birth and to the prevalence of extracardiac malformations and/or of associated genetic syndromes. On the other hand, in adults, surgery for congenital heart disease is at higher risk in males, and so the long-term survival rate is higher in females. Particular psychological attitudes, a higher incidence of pulmonary hypertension, as well as specific problems linked to the reproductive function characterize congenital heart disease in adult women. The knowledge and analysis of these data are essential for a correct management of congenital heart disease in neonates, children and adults.

  20. Short-term exposure to cigarette smoke induces endothelial dysfunction in small intrapulmonary arteries: analysis using guinea pig precision cut lung slices.

    PubMed

    Wright, J L; Churg, A

    2008-05-01

    The pathogenesis of cigarette smoke-induced pulmonary hypertension is not understood. We have previously shown that smoke rapidly and persistently, but discoordinately, upregulates gene expression of mediators that control vasoconstriction, vasoproliferation, and vasorelaxation in small intrapulmonary arteries. To investigate the possibility that smoke also induces endothelial dysfunction, a finding common to other forms of pulmonary hypertension, we exposed guinea pigs to smoke or air (control) daily for 2 wk and then prepared precision-cut lung slices. After exposure to endothelin-1, a vasoconstrictor, intra-acinar arteries in lung slices derived from smoke-exposed animals constricted more rapidly (greater constriction at a given concentration of endothelin) than did vessels from air-exposed animals. To examine relaxation responses, arteries were constricted with the vasoconstrictor U-46619 and then relaxed with progressively increasing doses of acetylcholine. Vessels from smokers had a delayed response to acetylcholine compared with vessels from controls. The NO synthase inhibitor N(G)-nitro-L-arginine methyl ester reduced relaxation in both control and smoke-exposed arteries, whereas the NO donor sodium nitroprusside increased relaxation of the smoke-exposed arteries, confirming that endothelial dysfunction with decreased effective NO production is present. These findings show that precision cut lung slices can be used to examine the physiological effects of cigarette smoke on intra-acinar pulmonary arteries and indicate that even relatively short-term exposure to smoke produces endothelial dysfunction with a resulting tendency to earlier constriction and later relaxation in cigarette smokers. These changes may be important in the development of pulmonary hypertension.

  1. Chest physiotherapy in cystic fibrosis: short-term effects of autogenic drainage preceded by wet inhalation of saline versus autogenic drainage preceded by intrapulmonary percussive ventilation with saline.

    PubMed

    Van Ginderdeuren, F; Verbanck, S; Van Cauwelaert, K; Vanlaethem, S; Schuermans, D; Vincken, W; Malfroot, A

    2008-01-01

    Chest physiotherapy has been used for many years to assist in the removal of abnormal viscid bronchial secretions in cystic fibrosis (CF) patients. This study compared the short-term effects of two physiotherapy regimens in patients with CF: autogenic drainage (AD) preceded by either saline inhalation ('saline(NEB) + AD') or by intrapulmonary percussive ventilation (IPV) with saline ('saline(IPV) + AD'). In a randomized crossover design, 20 clinically stable CF patients with similar pulmonary function at baseline received either 'saline(NEB) + AD' or 'saline(IPV) + AD' on 2 consecutive days. Transcutaneous oxygen saturation, heart rate, Borg dyspnea score and mucus wet weight were evaluated after 15 min of either saline(NEB) or saline(IPV), and after a subsequent 30 min of AD. There were no significant changes in oxygen saturation, heart rate or Borg score at any point of either physiotherapy intervention. There was no significant difference in sputum wet weight recovered with either saline(NEB) (2.2 +/- 1.8 g, mean +/- SD) or saline(IPV) (1.7 +/- 1.9 g) alone. Subsequent AD did produce significantly greater amounts of sputum wet weight (p < 0.0001 for both) than in the initial saline delivery period, yet the amount of wet weight was similar irrespective of whether AD was preceded by saline(NEB) (9.7 +/- 6.5 g) or saline(IPV) (11.6 +/- 7.3 g). Recovered sputum weight is similar whether AD is preceded by saline(NEB) or saline(IPV). The much greater amount of mucus obtained during the AD period than during the saline delivery period warrants further investigation. Copyright 2007 S. Karger AG, Basel.

  2. [Detection of an intrapulmonary shunt in patients with liver cirrhosis through contrast-enhanced transcranial Doppler. A study of prevalence, pattern characterization, and diagnostic validity].

    PubMed

    Ramírez Moreno, José María; Millán Núñez, María Victoria; Rodríguez Carrasco, Marta; Ceberino, David; Romaskevych-Kryvulya, Olena; Constantino Silva, Ana Belén; Muñoz-Vega, Pedro; García-Corrales, Carmen; Guiberteau-Sánchez, Ana; Roa Montero, Ana; Márquez-Lozano, Patricia; Narváez Rodríguez, Isidoro

    2015-10-01

    Intrapulmonary vascular dilatations (IPVD) are considered a complication of cirrhosis. The technique of choice for their diagnosis is contrast-enhanced echocardiography (CEE). The aim of this study was to determine the usefulness of contrast-enhanced transcranial Doppler (CETD) in the diagnosis of IPVD. We consecutively included patients evaluated for liver transplantation. A cross-sectional study was conducted. The investigator interpreting CETD was blind to the results of the gold standard (CEE). The accuracy of the diagnostic test was evaluated through sensitivity, specificity, positive and negative predictive values, and likelihood ratio. CETD (n=43) showed a right-to-left shunt in 23 patients (62.2%): 4 early, 2 indeterminate and 17 late. Nineteen (51,4%) cases were classified as IPVD. With CEE (n=37), 10 procedures (27%) were negative for shunt, 27 (73%) were positive, and 21 (56.8%) were compatible with IPVD. Patients with and without IPVD showed no differences in age, sex, etiology, severity, or MELD score, independently of the diagnostic test. In the diagnostic validity study (n=37) of CETD versus CEE, the AUC for diagnostic yield was 0.813% (95%CI: 0.666-0.959; P=.001), sensitivity was 76.2% (95%CI: 54.9-89.4) and specificity was 90% (95%CI: 63.9-96.5). The positive likelihood ratio was 6.095. We found a high prevalence of IPVD in candidates for liver transplantation. When a late right-to-left shunt with recirculation is observed, CETD has a high probability of detecting IPVD, with few false-positive results. Because this technique has not previously been described in this indication, similar studies are needed for comparison. Copyright © 2015 Elsevier España, S.L.U. and AEEH y AEG. All rights reserved.

  3. [Congenital Esophageal Atresia].

    PubMed

    Suzuki, Makoto; Kuwano, Hiroyuki

    2015-07-01

    In this report, we describe the esophageal atresia in terms of current surgical management on the basis of our experience and literatures. Traditionally, infants with esophageal atresia have presented shortly after birth because of an inability to pass an orogastric tube, respiratory distress, or an inability to tolerate feeding. And also, an isolated trachea-esophageal fistula (TEF) usually cases coughing, recurrent pneumonia, or choking during feedings. To ignore these symptoms is to risk a delayed diagnosis. The condition may be associated with other major congenital anomalies such as those seen in the vertebral, anal, cardiac, tracheo-esophageal, renal/radial (VACTER) association, or it may be an isolated defect. Therapeutic strategies for esophageal atresia are a prevention of pulmonary complication by TEF closing and an early establishment of enteral alimentation. We promptly repair healthy infants without performing a gastrostomy and delay repair in infants with high-risk factors such as associated severe cardiac anomaly and respiratory insufficiency. Esophageal atresia has been classically approached through a thoracotomy. The disadvantages of such a thoracotomy have been recognized for a long time, for example winged scapula, elevation of fixation of shoulder, asymmetry of the chest wall, rib fusion, scoliosis, and breast and pectoral muscle maldevelopment. To avoid such disadvantages, thoracoscopic repair was recently reported.

  4. [Consanguinity and congenital abnormalities].

    PubMed

    Søgaard, Marie; Vedsted-Jakobsen, Agnete

    2003-04-28

    Knowledge of consanguinity is relevant for employees in the Danish national health service, since about 7.5% of the Danish population has another ethnic background than Danish and the majority comes from cultures where consanguineous marriages are not unusual. In the literature it is found that consanguineous couples have a higher risk of having children with congenital malformations. The risk is increased by a factor 2 to 2 1/2. The average risk in Denmark is about 3%. Primarily, the autosomal recessive diseases are expressed in children with consanguineous parents. In order to advise and diagnose it is essential to clarify the consanguinity state. In case of pregnancy with consanguineous parents, we recommend: 1) Counselling to estimate the risk of foetal illness and information about possible examination possibilities. 2) An ultrasound scan at the gestational age of 11-14 weeks in order to measure nuchal translucency and an early malformation scan. 3) An ultrasound scan for malformations at the gestational age of 18-20 weeks. 4) An ultrasound scan especially in order to detect foetal heart malformations at the gestational age of 20-24 weeks.

  5. Singing in congenital amusia.

    PubMed

    Dalla Bella, Simone; Giguère, Jean-François; Peretz, Isabelle

    2009-07-01

    Congenital amusia is a musical disorder characterized by impaired pitch perception. To examine to what extent this perceptual pitch deficit may compromise singing, 11 amusic individuals and 11 matched controls were asked to sing a familiar tune with lyrics and on the syllable /la/. Acoustical analysis of sung renditions yielded measures of pitch accuracy (e.g., number of pitch errors) and time accuracy (e.g., number of time errors). The results revealed that 9 out of 11 amusics were poor singers, mostly on the pitch dimension. Poor singers made an anomalously high number of pitch interval and contour errors, produced pitch intervals largely deviating from the score, and lacked pitch stability; however, more than half of the amusics sang in-time. Amusics' variability in singing proficiency was related to their residual pitch perceptual ability. Thus, their singing deficiency might be a consequence of their perceptual deficit. Nevertheless, there were notable exceptions. Two amusic individuals, despite their impoverished perception, sang proficiently. The latter findings are consistent with the existence of separate neural pathways for auditory perception and action.

  6. [Penile congenital abnormalities].

    PubMed

    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.

  7. [Congenital aortic stenosis].

    PubMed

    Yamaguchi, M

    2001-08-01

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

  8. Canine congenital portosystemic encephalopathy.

    PubMed

    Maddison, J E

    1988-08-01

    The case records of 21 dogs with congenital portosystemic encephalopathy are reviewed. The disorder was most common in Australian cattledogs (blue heelers; 8 cases), Old English sheepdogs (3 cases) and Maltese terriers (3 cases). Extra-hepatic shunts occurred in small breeds, with the exception of 1 cattledog, while intra-hepatic shunts occurred in the medium to large breeds. The most common clinical pathology abnormalities were abnormal ammonia tolerance, mild to moderate increases in plasma alanine aminotransferase or alkaline phosphatase concentrations, decreased total serum protein concentrations, increased fasting ammonia concentrations and ammonium biurate crystalluria. Radiological examination revealed that all the dogs had a small liver. The kidneys were enlarged in 5 of 10 dogs in which kidney size could be estimated. Surgical ligation of an extra-hepatic shunt was successful in 2 of 4 dogs in which it was attempted. Medical management resulted in alleviation of clinical signs in 5 of 8 dogs. The period of successful treatment ranged from a few months to over a year.

  9. [Congenital cataract: general review].

    PubMed

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

    2006-04-01

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

  10. [Congenital insensitivity to pain].

    PubMed

    Danziger, N; Willer, J-C

    2009-02-01

    Congenital insensitivity to pain (CIP) is a rare syndrome with various clinical expressions, characterized by a dramatic impairment of pain perception since birth. In the 1980s, progress in nerve histopathology allowed to demonstrate that CIP was almost always a manifestation of hereditary sensory and autonomic neuropathies (HSAN) involving the small-calibre (A-delta and C) nerve fibres which normally transmit nociceptive inputs along sensory nerves. Identification of the genetic basis of several clinical subtypes has led to a better understanding of the mechanisms involved, emphasizing in particular the crucial role of nerve growth factor (NGF) in the development and survival of nociceptors. Recently, mutations of the gene coding for the sodium channel Nav1.7--a voltage-dependent sodium channel expressed preferentially on peripheral nociceptors and sympathetic ganglia--have been found to be the cause of CIP in patients showing a normal nerve biopsy. This radical impairment of nociception mirrors the hereditary pain syndromes associated with "gain of function" mutations of the same ion channel, such as familial erythromelalgia and paroxysmal extreme pain disorder. Future research with CIP patients may identify other proteins specifically involved in nociception, which might represent potential targets for chronic pain treatment. Moreover, this rare clinical syndrome offers the opportunity to address interesting neuropsychological issues, such as the role of pain experience in the construction of body image and in the empathic representation of others' pain.

  11. Congenital lipoid adrenal hyperplasia

    PubMed Central

    2014-01-01

    Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein (StAR). Affected patients typically present with signs of severe adrenal failure in early infancy and 46,XY genetic males are phenotypic females due to disrupted testicular androgen secretion. The StAR p.Q258X mutation accounts for about 70% of affected alleles in most patients of Japanese and Korean ancestry. However, it is more prevalent (92.3%) in the Korean population. Recently, some patients have been showed that they had late and mild clinical findings. These cases and studies constitute a new entity of 'nonclassic lipoid CAH'. The cholesterol side-chain cleavage enzyme, P450scc (CYP11A1), plays an essential role converting cholesterol to pregnenolone. Although progesterone production from the fetally derived placenta is necessary to maintain a pregnancy to term, some patients with P450scc mutations have recently been reported. P450scc mutations can also cause lipoid CAH and establish a recently recognized human endocrine disorder. PMID:25654062

  12. Congenital prothrombin deficiency.

    PubMed

    Lancellotti, Stefano; De Cristofaro, Raimondo

    2009-06-01

    Prothrombin deficiency is among the rarest inherited coagulation disorders, with a prevalence of approximately 1:2,000,000. Two main phenotypes can be distinguished: (1) hypoprothrombinemia (type I deficiency), characterized by concomitantly low levels of activity and antigen; and (2) dysprothrombinemia (type II deficiency), characterized by the normal or near-normal synthesis of a dysfunctional protein. In some cases, hypoprothrombinemia associated with dysprothrombinemia was also described in compound heterozygous defects. No living patient with undetectable plasma prothrombin has been reported to date. Prothrombin is encoded by a gene of approximately 21 kb located on chromosome 11 and containing 14 exons. Forty different mutations have been identified and characterized in prothrombin deficiency. Many of them surround the catalytic site, whereas another "hot spot" is localized in the recognition domain called anion binding exosite I, also called fibrinogen recognition site. Recently, mutations were identified also in the Na (+)-binding loop and in the light A-chain of thrombin. Most hypoprothrombinemia-associated mutations are missense, but there are also nonsense mutations leading to stop codons and one single nucleotide deletion. Finally, the main aspects of clinical manifestations and therapy of congenital prothrombin deficiency are presented and discussed.

  13. Congenital Diaphragmatic Hernia

    PubMed Central

    2012-01-01

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

  14. Congenital Esophageal Duplication Cyst: A Rare Cause of Dysphagia in an Adult.

    PubMed

    Sonthalia, Nikhil; Jain, Samit S; Surude, Ravindra G; Mohite, Ashok R; Rathi, Pravin M

    2016-10-01

    Esophageal duplication cyst is a rare congenital embryonal gastrointestinal (GI) malformation which is diagnosed most commonly in childhood. In adults, they can present with a variety of symptoms ranging from dysphagia, chest pain, epigastric discomfort, and vomiting to more serious complications including infections, hemorrhage, and ulcerations. A 30-year-old male presented with gradually progressive dysphagia to solids for 4 months without significant weight loss. Clinical examination and routine laboratory examination were unrevealing. Upper GI endoscopy revealed a well-defined submucosal lesion bulging into the esophageal lumen involving the right antero-lateral wall of the distal esophagus. The overlying mucosa was normal with mild luminal narrowing but gastroscope could be negotiated across this narrowing. Differential diagnosis included lipoma, leiomyoma or GI stromal tumors. Contrast-enhanced computed tomography of thorax revealed a 3.5 × 2.3 × 3 cm well-defined homogenous hypodense lesion involving the right antero-lateral wall of the distal thoracic esophagus with likely possibility of submucosal or intramural lesion. Subsequently, endoscopic ultrasonography (EUS) revealed a 3.3 × 2.8 cm homogenous hypoechoic lesion without any vascularity involving the distal esophagus wall suggestive of duplication cyst. The lesion was intramural in location as muscularis propria was seen to go around the lesion. Bronchogenic cyst was excluded due to absence of cartilage and close proximity of the cyst to lumen. Fine-needle aspiration was not attempted in view of high risk of introducing infection. Being symptomatic, the patient underwent complete surgical excision of the cyst with exteriorization of the base which on histopathology confirmed duplication cyst. Esophageal duplication cysts are exceedingly rare congenital embryonal malformations with estimated prevalence of 0.0122% arising from aberration of posterior division of embryonic foregut at 3 - 4 weeks of

  15. Congenital parasitic infections: a review.

    PubMed

    Carlier, Yves; Truyens, Carine; Deloron, Philippe; Peyron, François

    2012-02-01

    This review defines the concepts of maternal-fetal (congenital) and vertical transmissions (mother-to-child) of pathogens and specifies the human parasites susceptible to be congenitally transferred. It highlights the epidemiological features of this transmission mode for the three main congenital parasitic infections due to Toxoplasma gondii, Trypanosoma cruzi and Plasmodium sp. Information on the possible maternal-fetal routes of transmission, the placental responses to infection and timing of parasite transmission are synthesized and compared. The factors susceptible to be involved in parasite transmission and development of congenital parasitic diseases, such as the parasite genotypes, the maternal co-infections and parasitic load, the immunological features of pregnant women and the capacity of some fetuses/neonates to overcome their immunological immaturity to mount an immune response against the transmitted parasites are also discussed and compared. Analysis of clinical data indicates that parasitic congenital infections are often asymptomatic, whereas symptomatic newborns generally display non-specific symptoms. The long-term consequences of congenital infections are also mentioned, such as the imprinting of neonatal immune system and the possible trans-generational transmission. The detection of infection in pregnant women is mainly based on standard serological or parasitological investigations. Amniocentesis and cordocentesis can be used for the detection of some fetal infections. The neonatal infection can be assessed using parasitological, molecular or immunological methods; the place of PCR in such neonatal diagnosis is discussed. When such laboratory diagnosis is not possible at birth or in the first weeks of life, standard serological investigations can also be performed 8-10 months after birth, to avoid detection of maternal transmitted antibodies. The specific aspects of treatment of T. gondii, T. cruzi and Plasmodium congenital infections are

  16. Prenatal education for congenital toxoplasmosis.

    PubMed

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

    2009-01-21

    Congenital toxoplasmosis is considered a rare but potentially severe infection. Prenatal education about congenital toxoplasmosis could be the most efficient and least harmful intervention, yet its effectiveness is uncertain. To assess the effects of prenatal education for preventing congenital toxoplasmosis. We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (November 2007), CENTRAL (The Cochrane Library 2007, Issue 3), MEDLINE (1966 to November 2007), EMBASE (1980 to November 2007), CINAHL (1982 to November 2007), LILACS (1982 to November 2007) IMEMR (1984 to November 2007), and reference lists of relevant papers, reviews and websites. Randomized and quasi-randomized controlled trials (RCT) of all types of prenatal education on toxoplasmosis infection during pregnancy. Three authors independently assessed study quality and extracted data. One cluster-randomized controlled trial (432 women) met the inclusion criteria. However, the overall methodological quality was poor. The authors did not report measure of association but only provided P values (P less than 0.05) for all outcomes. The authors concluded that prenatal education can effectively change pregnant women's behavior as it increased pet, personal and food hygiene. There are no randomized trials on the effect of prenatal education on congenital toxoplasmosis rate, or toxoplasmosis seroconversion rate during pregnancy, but three observational studies consistently suggest that prenatal education might have a positive impact on these outcomes. Even though primary prevention of congenital toxoplasmosis is considered a desirable intervention, given the lack of related risks compared to secondary and tertiary prevention, its effectiveness has not been adequately evaluated. There is very little evidence from RCTs that prenatal education is effective in reducing congenital toxoplasmosis even though evidence from observational studies suggests it is. Given the lack of good evidence supporting

  17. Congenital scoliosis: etiology and associations.

    PubMed

    Hensinger, Robert N

    2009-08-01

    Literature review. To provide a current overview of congenital scoliosis and associated conditions. The etiology of congenital scoliosis is unknown. A variety of factors have been implicated in the development of vertebral abnormalities. These factors provide clues to the origin of congenital scoliosis. A search of PubMed, using the keywords congenital scoliosis, etiology, and genetics was performed. Environmental factors, genetics, vitamin deficiency, chemicals, and drugs, singly or in combination, have all been implicated in the development of vertebral abnormalities. Whatever the cause, the physiologic injury occurs early in the embryologic period, well before the development of cartilage and bone. The resulting defects can lead to full or partial fusion or lack of development of the vertebrae, which, in turn, can cause a curvature that, may be progressive during the growth of the child. The origin of congenital scoliosis may be environmental, genetic, or a combination of factors. Research on these various factors continues. Early identification and management of concomitant defects can improve the patient's quality of life.

  18. Magnetic resonance imaging of congenital heart disease

    SciTech Connect

    Fletcher, B.D.; Jacobstein, M.D.

    1988-01-01

    Focusing primarily on MR imaging of the heart, this book covers other diagnostic imaging modalities as well. The authors review new technologies and diagnostic procedures pertinent to congenital heat disease and present each congenital heat abnormality as a separate entity.

  19. Care and Treatment for Congenital Heart Defects

    MedlinePlus

    ... Physical Activity Recommendations for Heart Health • Tools & Resources Web Booklets on Congenital Heart Defects These online publications ... to you or your child’s defect and concerns. Web Booklet: Adults With Congenital Heart Defects Web Booklet: ...

  20. Genetic Counseling for Congenital Heart Defects

    MedlinePlus

    ... Peripheral Artery Disease Venous Thromboembolism Aortic Aneurysm More Genetic Counseling for Congenital Heart Defects Updated:Sep 12, ... person with congenital heart disease considers having children. Genetic counseling can help answer these questions and address ...

  1. Genetics Home Reference: congenital hepatic fibrosis

    MedlinePlus

    ... into smaller parts to be used or eliminated. Congenital hepatic fibrosis is characterized by malformation of the bile ducts and the blood vessels ... that cause isolated congenital hepatic fibrosis are ... include malformation of embryonic structures called ductal plates. Each ductal ...

  2. How Are Congenital Heart Defects Treated?

    MedlinePlus

    ... Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/28/2013 This ... journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI-supported international, ...

  3. How Are Congenital Heart Defects Diagnosed?

    MedlinePlus

    ... Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/28/2013 This ... journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI-supported international, ...

  4. Signs and Symptoms of Congenital Heart Defects

    MedlinePlus

    ... Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/28/2013 This ... journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI-supported international, ...

  5. Vision following extended congenital blindness.

    PubMed

    Ostrovsky, Yuri; Andalman, Aaron; Sinha, Pawan

    2006-12-01

    Animal studies suggest that early visual deprivation can cause permanent functional blindness. However, few human data on this issue exist. Given enough time for recovery, can a person gain visual skills after several years of congenital blindness? In India, we recently had an unusual opportunity to work with an individual whose case history sheds light on this question. S.R.D. was born blind, and remained so until age 12. She then underwent surgery for the removal of dense congenital cataracts. We evaluated her performance on an extensive battery of visual tasks 20 years after surgery. We found that although S.R.D.'s acuity is compromised, she is proficient on mid- and high-level visual tasks. These results suggest that the human brain retains an impressive capacity for visual learning well into late childhood. They have implications for current conceptions of cortical plasticity and provide an argument for treating congenital blindness even in older children.

  6. [The congenital afibrinogenemia: case report].

    PubMed

    Brahem, Imen; Charfeddine, Bassem; Chraiti, Haythem; Ben Abdallah, Jihene; Ben Othmen, Leila; Neffati, Souhir; Ali Smach, Mohamed; Ltaief, Affef; Ksourri, Monia; Dridi, Hedi; Limem, Khalifa

    2010-01-01

    The deficiency in factor I or fibrinogen is a largely unknown genetic disease. It is a rare condition inherited as an autosomal recessive, whose clinical events are variable, ranging from moderate to minimal bleeding or cataclysmic hemorrhage. We report a case of congenital afibrinogenemia in a 17 years-old patient hospitalized in surgical ICU for hemoperitoneum medium abundance discovered by abdominal ultrasound performed before a picture of abdominopelvic pain lasting for 24 hours. Exploration led to the diagnosis of congenital afibrinogenemia with favorable evolution with a contribution of factor deficient. Through this case we raise the problem of congenital afibrinogenemia in diagnosis and the peculiarities of its management.

  7. Congenital nystagmus and negative electroretinography

    PubMed Central

    Roussi, Mirella; Dalens, Hélène; Marcellier, Jean Jacques; Bacin, Franck

    2011-01-01

    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. PMID:21573087

  8. Leber's congenital amaurosis as conceived by Leber.

    PubMed

    Pinckers, A J

    1979-01-01

    Not being satisfied with the present-day diagnosis of Leber's congenital amaurosis, the original papers written by Leber were studied. It gradually became clear that what Leber had in mind with congenital amaurosis is roughly the same as what we know as neuronal ceroid lipofuscinosis. The present diagnosis of Leber's congenital amaurosis is not a clinical syndrome but an aspecific symptom complex.

  9. Lengthening of congenital forearm stumps.

    PubMed

    Jasiewicz, Barbara; Tesiorowski, Maciej; Kacki, Wojciech; Kasprzyk, Marcin; Zarzycki, Daniel

    2006-05-01

    The Ilizarov device and distraction osteogenesis method became very useful in correction and elongation of forearm defects. Two cases of forearm elongation with congenital transverse defect are described. The construction of the device is provided. During follow-up examination, 2 and 7 years after the treatment, good clinical results were achieved in both patients with the use of upper limb prosthesis employing the patient's own elbow joint. Presented application of the Ilizarov method can significantly improve possibilities for the use of prosthesis in patients with congenital upper limb defects and result in better cosmetic and functional outcome.

  10. Leber's congenital amaurosis: an update.

    PubMed

    Fazzi, Elisa; Signorini, Sabrina Giovanna; Scelsa, Barbara; Bova, Stefania Maria; Lanzi, Giovanni

    2003-01-01

    Leber's congenital amaurosis (LCA) is a clinically and genetically heterogeneous disorder characterized by severe loss of vision at birth. It accounts for 10-18% of cases of congenital blindness. Some patients exhibit only blindness of retinal origin whereas others show evidence of a multi-systemic involvement. We review the literature relating to this severe disorder, highlighting unresolved questions, in particular the nature of the association of LCA with mental retardation and with systemic findings and syndromic pictures. In recent years, genetic advances in the diagnosis of LCA have opened up new horizons, also from a therapeutic point of view. A better understanding of this pathology would be valuable for paediatric neurologists.

  11. [Congenital afibrinogenemia: about a case].

    PubMed

    Assani, Karim; Karboubi, Lamya; Dakhama, Badr Sououd Benjelloun

    2016-01-01

    Afibrinogenemia is a rare dyscrasia characterized by a congenital fibrinogen deficiency It is transmitted in an autosomal recessive manner. Hemorrhagic manifestations are variable and can be life-threatening. A little more than 250 cases have been published up till now. We here report a new case of congenital afibrinogenemia in a 3 1/2-year old child hospitalized for medium abundance hematemesis. This case study aims to highlight numerous aspects of this condition from a clinical, biological, genetic and therapeutic points of view.

  12. [Genetics of congenital heart diseases].

    PubMed

    Bonnet, Damien

    2017-06-01

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

  13. Dermatoglyphic profile in congenital cataracts.

    PubMed

    Angra, S K; Rao, N P; Panda, A; Grewal, M S

    1990-01-01

    Forty-five children with congenital cataract cases were studied for patterns and compared with age sex matched controls. The patients showed marked differences in different dermatoglyphic traits. The intra uterine aetiological groups i.e. rubella, hereditary and undetected aetiology, showed variations in mainline terminations. Rubella group showed increased angle atd.

  14. Congenital Absence of the Pericardium

    PubMed Central

    Kim, Hyun-Jin; Cho, Goo-Yeong; Choi, Sang Il

    2014-01-01

    Congenital absence of the pericardium is a rare cardiac malformation and is most often asymptomatic. It is usually discovered as an incidental finding. Physical examination, chest radiography, and electrocardiogram are often unremarkable. Echocardiography provides valuable information, and sometimes computed tomography or magnetic resonance imaging is needed for subsequent confirmation. PMID:24753808

  15. [Pregnancy and congenital heart disease].

    PubMed

    Manso, Begoña; Gran, Ferrán; Pijuán, Antonia; Giralt, Gemma; Ferrer, Queralt; Betrián, Pedro; Albert, Dimpna; Rosés, Ferrán; Rivas, Nuria; Parra, Montserrat; Girona, Josep; Farrán, Inmaculada; Casaldáliga, Jaume

    2008-03-01

    Since the creation of the Adult Congenital Heart Disease Units and of the High Obstetric Risk Units, there has been increasing interest in hemodynamic and obstetric outcomes in pregnant woman with congenital heart disease. Retrospective descriptive study of 56 women with congenital heart disease aged (mean [range]) 25 (18-40) years, who experienced a total of 84 pregnancies between January 1992 and August 2006. The women were divided into three pregnancy risk groups: A, low-risk; B, moderate-risk, and C, high-risk. The incidence of complications during pregnancy was 1.6%, 15%, and 20% in groups A, B, and C, respectively; the incidence during the puerperium was 2%, 23%, and 50%, respectively; and maternal mortality was 0%, 7.6%, and 25%, respectively. Overall, 69 children were born, and the prematurity rates in the three groups were 11%, 15%, and 100%, respectively. The following risk factors were studied: pulmonary hypertension, cyanosis, arrhythmia, left ventricular outflow tract obstruction, right ventricular dilatation, systemic right ventricle, and anticoagulation therapy. The risk factor most significantly associated with maternal or fetal morbidity or mortality was found to be pulmonary hypertension. Risk stratification in pregnant women with congenital heart disease provides prognostic information that can help multidisciplinary teams to target care to achieve the best results.

  16. Congenital anomalies in Primorsky region.

    PubMed

    Kiku, P; Voronin, S; Golokhvast, K

    2015-01-01

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

  17. Administration of intrapulmonary sodium polyacrylate to induce lung injury for the development of a porcine model of early acute respiratory distress syndrome.

    PubMed

    Henderson, William R; Barnbrook, Julian; Dominelli, Paolo B; Griesdale, Donald Eg; Arndt, Tara; Molgat-Seon, Yannick; Foster, Glen; Ackland, Gareth L; Xu, James; Ayas, Najib T; Sheel, Andrew W

    2014-12-01

    The loss of alveolar epithelial and endothelial integrity is a central component in acute respiratory distress syndrome (ARDS); however, experimental models investigating the mechanisms of epithelial injury are lacking. The purpose of the present study was to design and develop an experimental porcine model of ARDS by inducing lung injury with intrapulmonary administration of sodium polyacrylate (SPA). The present study was performed at the Centre for Comparative Medicine, University of British Columbia, Vancouver, British Columbia. Human alveolar epithelial cells were cultured with several different concentrations of SPA; a bioluminescence technique was used to assess cell death associated with each concentration. In the anesthetized pig model (female Yorkshire X pigs (n = 14)), lung injury was caused in 11 animals (SPA group) by injecting sequential aliquots (5 mL) of 1% SPA gel in aqueous solution into the distal airway via a rubber catheter through an endotracheal tube. The SPA was dispersed throughout the lungs by manual bag ventilation. Three control animals (CON group) underwent all experimental procedures and measurements with the exception of SPA administration. The mean (± SD) ATP concentration after incubation of human alveolar epithelial cells with 0.1% SPA (0.92 ± 0.27 μM/well) was approximately 15% of the value found for the background control (6.30 ± 0.37 μM/well; p < 0.001). Elastance of the respiratory system (E RS) and the lung (E L) increased in SPA-treated animals after injury (p = 0.003 and p < 0.001, respectively). Chest wall elastance (E CW) did not change in SPA-treated animals. There were no differences in E RS, E L, or E CW in the CON group when pre- and post-injury values were compared. Analysis of bronchoalveolar lavage fluid showed a significant shift toward neutrophil predominance from before to after injury in SPA-treated animals (p < 0.001) but not in the CON group (p = 0.38). Necropsy revealed

  18. Dietary fish oil and fish and borage oil suppress intrapulmonary proinflammatory eicosanoid biosynthesis and attenuate pulmonary neutrophil accumulation in endotoxic rats.

    PubMed

    Mancuso, P; Whelan, J; DeMichele, S J; Snider, C C; Guszcza, J A; Karlstad, M D

    1997-07-01

    Proinflammatory eicosanoids and cytokines are important mediators of local inflammation in acute lung injury. We determined if enteral nutrition with anti-inflammatory fatty acids, eicosapentaenoic acid, and gamma-linolenic acid would reduce the intrapulmonary synthesis of proinflammatory eicosanoids and cytokines and pulmonary neutrophil accumulation in a rat model of acute lung injury. Prospective, randomized, controlled, double-blind study. Research laboratory at a university medical center. Male Long-Evans rats (250 g). Rats were randomly assigned to three dietary treatment groups and fed nutritionally complete diets (300 kcal/kg/day) containing 55.2% of the total calories from fat with either 97% corn oil, 20% fish oil, or 20% fish and 20% borage oil for 21 days. On day 22, bronchoalveolar lavage was performed 2 hrs after an intravenous injection of Salmonella enteritidis endotoxin (10 mg/kg) or saline. Bronchoalveolar lavage fluid was analyzed for leukotriene B4, leukotriene C4/D4, thromboxane B2, prostaglandin E2, 6 keto-prostaglandin F1alpha, tumor necrosis factor (TNF)-alpha, and macrophage inflammatory protein-2 (MIP-2). Lung myeloperoxidase activity (a marker for neutrophil accumulation) and phospholipid fatty acid composition were also determined. Lung phospholipid concentrations of arachidonic acid were lower and the concentrations of eicosapentaenoic acid and docosahexaenoic acid were higher with fish oil and fish and borage oil as compared with corn oil. Dihomo-gamma-linolenic acid, the desaturated and elongated intermediate of gamma-linolenic acid, increased with fish and borage oil as compared with fish oil and corn oil. The levels of leukotriene B4, leukotriene C4/D4, 6-keto-prostaglandin F1alpha, and thromboxane B2 with corn oil were significantly increased with endotoxin as compared with saline. In contrast to the corn oil group, endotoxin did not significantly increase bronchoalveolar lavage levels of leukotriene B4, leukotriene C4/D4, and

  19. Operative treatment of congenital torticollis.

    PubMed

    Shim, J S; Jang, H P

    2008-07-01

    There were 47 patients with congenital muscular torticollis who underwent operative release. After a mean follow-up of 74 months (60 to 90), they were divided into two groups, one aged one to four years (group 1) and the other aged five to 16 years (group 2). The outcomes were assessed by evaluating the following parameters: deficits of lateral flexion and rotation, craniofacial asymmetry, surgical scarring, residual contracture, subjective evaluation and degree of head tilt. The craniofacial asymmetry, residual contracture, subjective evaluation and overall scores were similar in both groups. However, group 2 showed superior results to group 1 in terms of the deficits of movement, surgical scarring and degree of head tilt. It is recommended that operative treatment for congenital muscular torticollis is postponed until the patient can comply successfully with post-operative bracing and an exercise programme.

  20. [Congenital ranula in a newborn].

    PubMed

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

    2007-05-01

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

  1. Congenital Hypothyroidism: Facts, Facets & Therapy.

    PubMed

    Kollati, Yedukondalu; Ambati, Ranga Rao; Reddy, Prakash Narayana; Kumar, N Satya Sampath; Patel, Rajesh K; Dirisala, Vijaya R

    2017-01-01

    Thyroid hormone (T3) is essential for normal development of children enabling brain development and somatic growth. However, certain individuals are genetically predisposed with insufficient or no thyroid hormones. Such a condition is termed congenital hypothyroidism (CH). In the present review, a brief back ground about congenital hypothyroidism, factors associated with CH leading to thyroid dysgenesis and thyroid dyshormonogenesis is elaborated. Additionally, the guidelines for available treatment options, management and follow-up required for patients diagnosed with CH are discussed. Treatment options in terms of treatment initiation and dosage of hormone replacement are discussed. Though CH is considered as the most common neonatal metabolic disorder, it is also easily treatable compared to other metabolic or hereditary diseases. The outcome of CH treatment depends on the compliance of parents early in life and by patients themselves during later part of life. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  2. [Radiological evaluation of congenital tumors].

    PubMed

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

    2015-01-01

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

  3. Congenital heart disease in pregnancy.

    PubMed

    Swan, Lorna

    2014-05-01

    The story of congenital heart disease is one of the major successes of medicine in the last 50 years. Heart conditions previously associated with early death are now successfully treated. Many of these women are now in their child-bearing years wishing to have children of their own. All of these women should be offered comprehensive pre-conception counselling by a dedicated multi-disciplinary team. Each woman will present a unique set of cardiac and obstetric challenges that require an individualised assessment of risk and a carefully documented care plan. In this chapter, I describe the most common forms of congenital heart disease and the specific issues that should be assessed before conception. I present a systematic approach to risk stratification and care planning. These lesions range from mild disease with little implications for pregnancy to those with a sizable risk of maternal mortality or complications. I will also discuss fetal risk factors.

  4. Congenital myotonia in related kittens.

    PubMed

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

    1998-06-01

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

  5. Genetics of Congenital Heart Disease

    PubMed Central

    Richards, Ashleigh A; Garg, Vidu

    2010-01-01

    Cardiovascular malformations are the most common type of birth defect and result in significant mortality worldwide. The etiology for the majority of these anomalies remains unknown but genetic factors are being recognized as playing an increasingly important role. Advances in our molecular understanding of normal heart development have led to the identification of numerous genes necessary for cardiac morphogenesis. This work has aided the discovery of an increasing number of monogenic causes of human cardiovascular malformations. More recently, studies have identified single nucleotide polymorphisms and submicroscopic copy number abnormalities as having a role in the pathogenesis of congenital heart disease. This review discusses these discoveries and summarizes our increasing understanding of the genetic basis of congenital heart disease. PMID:21532774

  6. Congenital Absence of the Pericardium.

    PubMed

    Lopez, David; Asher, Craig R

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

  7. Congenital syphilis: The continuing scourge

    PubMed Central

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

    2014-01-01

    Congenital syphilis is a severe, disabling infection that occurs due to the transmission of Treponema pallidum across the placenta during pregnancy or from contact with an infectious genital lesion during delivery. However, its early diagnosis is often difficult because more than half of the affected infants are asymptomatic, and the signs in symptomatic infants may be subtle and nonspecific. Although its incidence is declining, this long-forgotten disease continues to affect pregnant women, resulting in considerable perinatal morbidity and mortality. We hereby report a case of a 2-month-old infant with early congenital syphilis presenting with joint swellings and Parrot's pseudoparalysis, a comparative rarity in the present scenario. The report also stresses upon the importance of implementing the Centres for Disease Control and Prevention recommendation that all the pregnant women should be screened for syphilis in the first antenatal visit in the first trimester and again in late pregnancy. PMID:26396451

  8. Classifying sex biased congenital anomalies

    SciTech Connect

    Lubinsky, M.S.

    1997-03-31

    The reasons for sex biases in congenital anomalies that arise before structural or hormonal dimorphisms are established has long been unclear. A review of such disorders shows that patterning and tissue anomalies are female biased, and structural findings are more common in males. This suggests different gender dependent susceptibilities to developmental disturbances, with female vulnerabilities focused on early blastogenesis/determination, while males are more likely to involve later organogenesis/morphogenesis. A dual origin for some anomalies explains paradoxical reductions of sex biases with greater severity (i.e., multiple rather than single malformations), presumably as more severe events increase the involvement of an otherwise minor process with opposite biases to those of the primary mechanism. The cause for these sex differences is unknown, but early dimorphisms, such as differences in growth or presence of H-Y antigen, may be responsible. This model provides a useful rationale for understanding and classifying sex-biased congenital anomalies. 42 refs., 7 tabs.

  9. Hirschsprungs disease with congenital hypothyroidism.

    PubMed

    Kota, Sunil Kumar; Modi, K D; Rao, Madan Mohan

    2012-03-01

    We report a female newborn baby who presented with vomiting and abdominal distension on day 21 of life. Examination revealed facial puffiness, open posterior fontanelles, dry skin, cold peripheries and prominent abdominal veins with visible peristalsis. Barium enema revealed dilated proximal colon, empty rectum, funnel like transition zone between proximal dilated and distal constricted bowel. Serum TSH level was >;150 uIU/mL. Biopsy revealed aganglionic segment suggesting Hirschsprungs disease, an unusual association with congenital hypothyroidism.

  10. Genetic appraisal of congenital cataract.

    PubMed

    Angra, S K; Rao, P; Panda, A; Grewal, M S

    1987-01-01

    A total of 45 congenital cataract cases were studied for chromosomal aberrations and dermatoglyphic patterns. Whereas parents showed no marked differences, patients showed marked differences in different dermatoglyphic traits as compared to age-sex matched controls. Out of all the patients Rubella, hereditary and undetected actiology groups showed variations differently, SCE were seen in all cataracts irrespective of their aetiology as compared to controls.

  11. [Congenital heart diseases and sports].

    PubMed

    Martínez Quintana, E; Agredo Muñoz, J; Rodríguez González, F; Nieto Lago, V

    2008-04-01

    Congenital heart diseases are a frequent cause of cardiology consultation. New diagnostic and therapeutic techniques have allowed greater survival and quality of life of patients who wish to participate in sports. What they can do is not always easy to determine. Guidelines are helpful at the time of deciding, although finally is the doctor the one that must determine in each case the situation of the patient and the type of exercise they can do depending on the severity and type of cardiopathy.

  12. [Congenital afibrinogenemia: a case report].

    PubMed

    El Boussaadni, Y; Benajiba, N; El Ouali, A; Amrani, R; Rkain, M

    2015-01-01

    Afibrinogenemia is a rare autosomal recessive disease. Its clinical manifestations vary in severity, ranging from minimal bleeding to cataclysmic hemorrhage, and can begin at birth or, sometimes, later. We report a case of a female infant, 10 months of age, hospitalized in the pediatrics department because of a postvaccination hematoma. Biologic exploration found congenital afibrinogenemia. Through this case, we review the clinical features of this disease and its management. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  13. Congenital deficiency of factor VII.

    PubMed

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

    1996-01-01

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

  14. Syndromes with congenital brittle bones.

    PubMed

    Plotkin, Horacio

    2004-08-31

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

  15. Syndromes with congenital brittle bones

    PubMed Central

    Plotkin, Horacio

    2004-01-01

    Background There is no clear definition of osteogenesis imperfecta (OI). The most widely used classification of OI divides the disease in four types, although it has been suggested that there may be at least 12 forms of OI. These forms have been named with numbers, eponyms or descriptive names. Some of these syndromes can actually be considered congenital forms of brittle bones resembling OI (SROI). Discussion A review of different syndromes with congenital brittle bones published in the literature is presented. Syndromes are classified in "OI" (those secondary to mutations in the type I pro-collagen genes), and "syndromes resembling OI" (those secondary to mutations other that the type I pro-collagen genes, identified or not). A definition for OI is proposed as a syndrome of congenital brittle bones secondary to mutations in the genes codifying for pro-collagen genes (COL1A1 and COL1A2). Summary A debate about the definition of OI and a possible clinical and prognostic classification are warranted. PMID:15339338

  16. Congenital Portosystemic Shunt: Our Experience

    PubMed Central

    Timpanaro, Tiziana; Passanisi, Stefano; Sauna, Alessandra; Trombatore, Claudia; Pennisi, Monica; Petrillo, Giuseppe; Smilari, Pierluigi; Greco, Filippo

    2015-01-01

    Introduction. Congenital portosystemic venous malformations are rare abnormalities in which the portal blood drains into a systemic vein and which are characterized by extreme clinical variability. Case Presentations. The authors present two case reports of a congenital extrahepatic portosystemic shunt (Type II). In the first patient, apparently nonspecific symptoms, such as headache and fatigue, proved to be secondary to hypoglycemic episodes related to the presence of a portosystemic shunt, later confirmed on imaging. During portal vein angiography, endovascular embolization of the portocaval fistula achieved occlusion of the anomalous venous tract. In the second patient, affected by Down's syndrome, the diagnosis of a portosystemic malformation was made by routine ultrasonography, performed to rule out concurrent congenital anomalies. Because of the absence of symptoms, we chose to observe this patient. Conclusions. These two case reports demonstrate the clinical heterogeneity of this malformation and the need for a multidisciplinary approach. As part of a proper workup, clinical evaluation must always be followed by radiographic diagnosis. PMID:25709849

  17. Pulmonary hypertension in congenital shunts.

    PubMed

    Beghetti, Maurice; Tissot, Cecile

    2010-10-01

    Pulmonary arterial hypertension frequently arises in patients with congenital heart disease. The vast majority present with congenital cardiac shunts. Initially these may manifest as left-to-right (i.e. systemic-to-pulmonary) shunts. The natural history of disease progression involves vascular remodeling and dysfunction that lead to increased pulmonary vascular resistance and, finally, to the development of Eisenmenger's syndrome, which is the most advanced form. The anatomical, pathological and structural abnormalities occurring in the pulmonary circulation of these patients are, to some extent, similar to those observed in other forms of pulmonary arterial hypertension. This understanding has recently led to significant changes in the management of Eisenmenger's syndrome, with the introduction of treatment specifically targeting pulmonary vascular disease. Early closure of the cardiac shunt remains the best way of preventing pulmonary vascular lesions. However, it is still not clear which preoperative parameters predict safe and successful repair, though hemodynamic evaluation is still routinely used for assessment. Postoperative pulmonary hypertension, both in the immediate period after surgical repair and during long-term follow-up, remains a real therapeutic challenge. The clinical situation of a single ventricle with Fontan circulation also presents difficulties when pulmonary vascular lesions are present. This article reviews pulmonary hypertension associated with congenital shunts and discusses a number of the specific problems encountered.

  18. Vestibular abnormalities in congenital disorders.

    PubMed

    Sando, I; Orita, Y; Miura, M; Balaban, C D

    2001-10-01

    This paper reviews the histopathologic features of vestibular abnormalities in congenital disorders affecting the inner ear, based upon a comprehensive literature survey and a review of cases in our temporal bone collection. The review proceeds in three systematic steps. First, we surveyed associated diseases with the major phenotypic features of congenital abnormalities of the inner ear (including the internal auditory canal and otic capsule). Second, the vestibular anomalies are examined specifically. Finally, the anomalies are discussed from a developmental perspective. Among vestibular anomalies, a hypoplastic endolymphatic duct and sac are observed most frequently. Anomalies of the semicircular canals are also often observed. From embryological and clinical viewpoints, many of these resemble the structural features from fetal stages and appear to be associated with vestibular dysfunction. It is expected that progress in genetic analysis and accumulation of temporal bone specimens with vestibular abnormalities in congenital diseases will provide crucial information not only for pathology of those diseases, but also for genetic factors that are responsible for the specific vestibular abnormalities.

  19. Congenital duplication of the larynx.

    PubMed

    Simpson, A I; Khanna, A; Stanton, A

    2014-06-01

    The larynx is an intricate structure serving three important functions in humans: it protects the lower respiratory airway, facilitates respiration and helps produce sound through a key role in phonation. We report the first published finding of congenital duplication of the larynx in a patient with previously cleared squamous cell carcinoma of the neck and a new diagnosis of squamous cell carcinoma of the lung. We describe the incidental finding of duplication of the larynx in a 62-year-old man with previously completely cleared squamous cell carcinoma of the neck, who presented with worsening dyspnoea. We also provide a brief overview of other published cases in which duplication of the vocal folds and epiglottis has been reported. Our patient experienced no symptoms related to this incidental finding of congenital duplication of the larynx. The first case of congenital duplication of the larynx is currently of academic interest only; however, the possible association with squamous cell carcinoma is postulated to raise awareness in clinicians who may observe further cases in the future.

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

    PubMed

    Munteanu, M

    2005-01-01

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

  1. Accelerate Genomic Aging in Congenital Neutropenia

    DTIC Science & Technology

    2016-08-01

    replicative stress and/or changes in the bone marrow microenvironment in patients with congenital neutropenia leads to a higher rate of accumulation of...congenital neutropenia. We hypothesize that replicative stress and/or changes in the bone marrow microenvironment in patients with congenital neutropenia...Research Projection Office (Time frame 1-3 months; completed). DoD approval has been obtained. 1c. Obtain human blood or bone marrow samples from

  2. Congenital rubella in the USSR

    PubMed Central

    Kantorovič, R. A.; Volodina, N. I.; Teleševskaja, E. A.; Avdina, A. I.; Sokolova, N. M.; Beleckaja, L. V.; Černova, M. P.; Farber, N. A.

    1979-01-01

    The results of a comprehensive study of the problem of congenital rubella in Moscow and other cities of the USSR are presented. The highest rubella incidence was found among children 1-7 years of age; but 20-25 rubella cases were also recorded annually per 100 000 adults. Specific antihaemagglutinins were found in 36-70% of children and in 91-99% of adults. Investigation of the rubella foci revealed clinical rubella, confirmed by laboratory methods, in children and adults who had low initial titres of specific antihaemagglutinins. Serological screening of 1661 apparently healthy pregnant women detected antihaemagglutinins in 98.4%; however, low (1:8-1:16) titres were found in 53.3% and high (postinfection) titres and specific IgM in only 8.8% of cases. A study of 523 pregnant women who had been in contact with a source of infection revealed clinical rubella in 10.9% and inapparent infection in 0.7% of cases. A virological study of fetuses from infected pregnant women showed that there was intrauterine viral infection in 73% of cases; 38% of rubella-infected fetuses had congenital defects (unilateral or bilateral cataract, absence of one cerebral hemisphere, adhesion of the upper and lower eyelid, or diffuse damage of the crystalline lens); in one woman rubella virus was isolated from the fetuses and abortion materials received from two abortions with an interval of 6 months. Serological investigation of 519 mothers who had given birth to children with congenital defects showed that there were more frequent indications of rubella infection in the mothers of the children with CNS and cardiovascular defects, as well as in the children with congenital cardiovascular and CNS defects, than in the control groups. These data confirmed the teratogenic nature of rubella strains found in the USSR. This study indicates the need to improve rubella surveillance in pregnant women and to consider the prophylaxis of congenital rubella in the USSR. (See also Addendum.) ImagesFig. 1

  3. Genetics Home Reference: nonbullous congenital ichthyosiform erythroderma

    MedlinePlus

    ... Metabolic Diseases Foundation for Ichthyosis and Related Skin Types (FIRST): Congenital Ichthyosiform Erythroderma National Organization for Rare Disorders (NORD): Ichthyosis University of Kansas ...

  4. History of the Congenital Heart Surgeons' Society.

    PubMed

    Mavroudis, Constantine; Williams, William G

    2015-10-01

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

  5. The changing epidemiology of congenital heart disease.

    PubMed

    van der Bom, Teun; Zomer, A Carla; Zwinderman, Aeilko H; Meijboom, Folkert J; Bouma, Berto J; Mulder, Barbara J M

    2011-01-01

    Congenital heart disease is the most common congenital disorder in newborns. Advances in cardiovascular medicine and surgery have enabled most patients to reach adulthood. Unfortunately, prolonged survival has been achieved at a cost, as many patients suffer late complications, of which heart failure and arrhythmias are the most prominent. Accordingly, these patients need frequent follow-up by physicians with specific knowledge in the field of congenital heart disease. However, planning of care for this population is difficult, because the number of patients currently living with congenital heart disease is difficult to measure. Birth prevalence estimates vary widely according to different studies, and survival rates have not been well recorded. Consequently, the prevalence of congenital heart disease is unclear, with estimates exceeding the number of patients currently seen in cardiology clinics. New developments continue to influence the size of the population of patients with congenital heart disease. Prenatal screening has led to increased rates of termination of pregnancy. Improved management of complications has changed the time and mode of death caused by congenital heart disease. Several genetic and environmental factors have been shown to be involved in the etiology of congenital heart disease, although this knowledge has not yet led to the implementation of preventative measures. In this Review, we give an overview of the etiology, birth prevalence, current prevalence, mortality, and complications of congenital heart disease.

  6. Genetics Home Reference: nonsyndromic congenital nail disorder 10

    MedlinePlus

    ... congenital nail disorder 10 nonsyndromic congenital nail disorder 10 Enable Javascript to view the expand/collapse boxes. ... All Close All Description Nonsyndromic congenital nail disorder 10 is a condition that affects the fingernails and ...

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

    PubMed

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

    2015-02-01

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

  8. A Case Series: Congenital Hyperinsulinism

    PubMed Central

    Alaei, Mohammad Reza; Akbaroghli, Susan; Keramatipour, Mohammad; Alaei, Ali

    2016-01-01

    Introduction Congenital hyperinsulinism is a rare inherited disease caused by mutations in genes responsible for β-cell’s function in glucose hemostasis leading to profound and recurrent hypoglycemia. The incidence of the disease is about 1 in 50000 newborns. Mutations in at least 8 genes have been reported to cause congenital hyperinsulinism. Mutations in ABCC8 gene are the most common cause of the disease that account for approximately 40% of cases. Less frequently KCNJ11 gene mutations are responsible for the disease. Mutations in other genes such as HADH account for smaller fractions of cases. In nearly half of the cases the cause remains unknown. Case Presentation During the period between 2005 and 2010, a total of six patients with persistent hyperinsulinism were investigated at Mofid Children’s Hospital. In this study all of the patients had early onset hyperinsulinemia. Five patients had consanguineous parents. After failure of medical treatment in three patients, They were undergone pancreatectomy. Two diffuse types and one focal type had been recognized in pathological analysis of intra-operative frozen specimens of pancreas in these patients. Genetic analysis was performed using polymerase chain reaction followed by Sanger sequencing for ABCC8, KCNJ11and HADH genes. In five patients homozygous mutations in these genes were identified that indicated an autosomal recessive pattern of inheritance. In one patient a heterozygous mutation in ABCC8 was identified, indicating possible autosomal dominant inheritance of the disease. Conclusions Congenital hyperinsulinism can have different inheritance pattern. Autosomal recessive inheritance is more common but less frequently autosomal dominant inheritance can be seen. It appears that mutations in ABCC8 gene can show both autosomal recessive and autosomal dominant inheritance of the disease. PCR followed by Sanger sequencing proved to be an efficient method for mutation detection in three investigated genes

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

    PubMed

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

    2010-04-01

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

  10. Immunohistochemical study of congenital gingival granular cell tumor (congenital epulis).

    PubMed

    Takahashi, H; Fujita, S; Satoh, H; Okabe, H

    1990-11-01

    The congenital gingival granular cell tumor (CGGT) or congenital epulis is a rare lesion of unknown origin found only in newborn infants. The tumor consists mainly of large eosinophilic granular cells arranged in solid nests that are separated by thin fibrovascular areas. In addition, there are some spindle-shaped cells and medium-sized polygonal cells (so-called interstitial cells) among the neoplastic granular cells. Three CGGTs were investigated with a panel of poly- and monoclonal antibodies, using immunoperoxidase methods on formalin fixed paraffin embedded sections. Neoplastic granular cells of these three cases show cytoplasmic staining for neuron-specific enolase (NSE) and vimentin. However, all other reactions were negative. Our results suggest that the lesion may be derived from uncommitted nerve-related mesenchymal cells. On the other hand, interstitial cells show strong S-100 protein-, cytokeratin-, vimentin-, and NSE-immunostainings, and these cells are consistent with neuroendocrine nature. The presence of a biphasic cell population with granular cells and interstitial cells must be considered the main immunohistochemical feature.

  11. Congenital dystrophic medial rectus muscles

    PubMed Central

    Murthy, Ramesh

    2017-01-01

    We report two patients, one with congenital dystrophic medial rectus muscles and one with absence of the medial rectus muscles; in addition, one of them had absence of the lateral rectus muscles. While absence of the superior oblique and superior rectus has been more commonly reported in literature, especially with craniofacial syndromes, our patients were nonsyndromic. Considering the risk of anterior segment ischemia, correction of the large-angle exotropia was performed by horizontal rectus muscle surgery where possible, along with transfer of the superior oblique tendon to the superior part of the normal medial rectus muscle insertion area to create a tethering effect with a good outcome. PMID:28300745

  12. Laboratory Diagnosis of Congenital Toxoplasmosis

    PubMed Central

    Pomares, Christelle

    2016-01-01

    Recent studies have demonstrated that screening and treatment for toxoplasmosis during gestation result in a decrease of vertical transmission and clinical sequelae. Early treatment was associated with improved outcomes. Thus, laboratory methods should aim for early identification of infants with congenital toxoplasmosis (CT). Diagnostic approaches should include, at least, detection of Toxoplasma IgG, IgM, and IgA and a comprehensive review of maternal history, including the gestational age at which the mother was infected and treatment. Here, we review laboratory methods for the diagnosis of CT, with emphasis on serological tools. A diagnostic algorithm that takes into account maternal history is presented. PMID:27147724

  13. Short stature with congenital ichthyosis.

    PubMed

    Lakhani, Som J; Lakhani, Om J

    2015-12-09

    PIBIDS syndrome (photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature) is a variant of trichothiodystrophy. It is a rare form of autosomal recessive congenital ichthyosis. Short stature is a vital component of PIBIDS syndrome. We present the cases of two siblings in whom we diagnosed PIBIDS syndrome. On evaluation for short stature, they were found to have severe vitamin D deficiency, which on correction led to the patients having considerable gain in stature. With this case, we would also like to propose that vitamin D deficiency could be one of the treatable causes of short stature in PIBIDS syndrome.

  14. CONGENITAL PSEUDARTHROSIS OF THE CLAVICLE

    PubMed Central

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

    2015-01-01

    Congenital pseudarthrosis of the clavicle (PCC) is a rare affection, that can be diagnosed at birth and represent a disturbance of union of the ossification centers. It's more common in girls and in the right side. This study objectives to proceed a revision about the subject, that was searched in online database of LILACS and MEDLINE. We found 56 articles till present data. Besides be a bit infrequent, the PCC must not be missed or even forgotten, especially as differential diagnosis with acute fracture of the clavicle at birth by trauma in the childbirth. The diagnostic is relatively easy and the treatment can be just observation or even surgical. PMID:27047839

  15. Idiopathic erythermalgia: a congenital disorder.

    PubMed

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

    1989-11-01

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

  16. Congenital ranula: a case report.

    PubMed

    Cavalcante, Ana Sueli Rodrigues; Rosa, Luiz Eduardo Blumer; Costa, Nívea Cristina Sena; Hatakeyama, Márcia; Anbinder, Ana Lia

    2009-01-01

    The purpose of this study was to report a case of bilateral swelling on the floor of the mouth of a 7-month-old patient. The lesion was congenital and had started to cause feeding problems. After the clinical diagnosis of ranula was made, the lesion was marsupialized. The obtained specimen was submitted for histopathological examination, which revealed an epithelial-lined cystic lesion. These results led to the final diagnosis of mucus retention cyst. After an 8-year follow-up period, the patient is in good general health with no recurrences.

  17. Minimal Incision Congenital Cardiac Surgery

    PubMed Central

    del Nido, Pedro J.

    2008-01-01

    Minimally invasive techniques have had limited application in congenital cardiac surgery, primarily due to the complexity of the defects, small working area, and the fact that most defects require exposure to intracardiac structures. Advances in cannula design and instrumentation have allowed application of minimal incision techniques but in most cases, cardiopulmonary bypass is still required. Image guided surgery, which uses non-invasive imaging to guide intracardiac procedures, holds the promise of permitting performance of reconstructive surgery in the beating heart in children. PMID:18395631

  18. Purpura-associated congenital lymphedema.

    PubMed

    Berti, Samantha; Pieri, Alessandro; Lotti, Torello; Duranti, Alberto; Panelos, John; De Martino, Maurizio; Moretti, Silvia

    2009-01-01

    An 8-year-old girl referred to our Department for a two-month worsening of congenital primary lymphedema of the lower limb and for the appearance of several purpuric lesions on the right thigh and knee. We diagnosed a lichenoid pigmented purpura of Gougerot and Blum in a patient with Milroy disease, complicated by an insufficiency of anterior saphena. We treated the patient with topical steroids and compression stockings, until surgical intervention of phlebectomy. We report this case for the rarity of the disease, for the even more rare association with lichenoid pigmented purpura and for cutaneous immunopathological findings.

  19. Accelerate Genomic Aging in Congenital Neutropenia

    DTIC Science & Technology

    2015-08-01

    myeloid leukemia (AML) is perhaps the major clinical concern in patients with severe congenital neutropenia (SCN) and Shwachman-Diamond syndrome (SDS...for the markedly increased risk of transformation to myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) in patients with congenital...Hematopoietic stem cells Granulocyte colony-stimulating factor Granulocyte colony-stimulating factor receptor Acute myeloid leukemia Myelodysplastic

  20. Congenital Plasmodium falciparum Malaria in Washington, DC.

    PubMed

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

    2017-01-11

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

  1. A case and review of congenital leukonychia.

    PubMed

    Pathipati, Akhilesh S; Ko, Justin M; Yost, John M

    2016-10-15

    Leukonychia refers to a white discoloration of the nails. Although several conditions may cause white nails, a rare, isolated, congenital form of the disease is hypothesized to stem from disordered keratinization of the nail plate. Herein, we report a case of a 41-year-old woman with congenital leukonychia and review prior cases.

  2. The genetic landscape of familial congenital hydrocephalus.

    PubMed

    Shaheen, Ranad; Sebai, Mohammed Adeeb; Patel, Nisha; Ewida, Nour; Kurdi, Wesam; Altweijri, Ikhlass; Sogaty, Sameera; Almardawi, Elham; Seidahmed, Mohammed Zain; Alnemri, Abdulrahman; Madirevula, Sateesh; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Al-Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Sallout, Bahauddin; AlBaqawi, Badi; AlAali, Wajeih; Ajaji, Nouf; Lesmana, Harry; Hopkin, Robert J; Dupuis, Lucie; Mendoza-Londono, Roberto; Al Rukban, Hadeel; Yoon, Grace; Faqeih, Eissa; Alkuraya, Fowzan S

    2017-06-01

    Congenital hydrocephalus is an important birth defect, the genetics of which remains incompletely understood. To date, only 4 genes are known to cause Mendelian diseases in which congenital hydrocephalus is the main or sole clinical feature, 2 X-linked (L1CAM and AP1S2) and 2 autosomal recessive (CCDC88C and MPDZ). In this study, we aimed to determine the genetic etiology of familial congenital hydrocephalus with the assumption that these cases represent Mendelian forms of the disease. Exome sequencing combined, where applicable, with positional mapping. We identified a likely causal mutation in the majority of these families (21 of 27, 78%), spanning 16 genes, none of which is X-linked. Ciliopathies and dystroglycanopathies were the most common etiologies of congenital hydrocephalus in our cohort (19% and 26%, respectively). In 1 family with 4 affected members, we identified a homozygous truncating variant in EML1, which we propose as a novel cause of congenital hydrocephalus in addition to its suggested role in cortical malformation. Similarly, we show that recessive mutations in WDR81, previously linked to cerebellar ataxia, mental retardation, and disequilibrium syndrome 2, cause severe congenital hydrocephalus. Furthermore, we confirm the previously reported candidacy of MPDZ by presenting a phenotypic spectrum of congenital hydrocephalus associated with 5 recessive alleles. Our study highlights the importance of recessive mutations in familial congenital hydrocephalus and expands the locus heterogeneity of this condition. Ann Neurol 2017;81:890-897. © 2017 American Neurological Association.

  3. Congenital psoriasis: case report and literature review.

    PubMed

    Lehman, Julia S; Rahil, Anudeep K

    2008-01-01

    While childhood psoriasis is fairly common, congenital psoriasis appears to be rare and has not been well characterized. We present a patient with histologically confirmed congenital psoriasis. By reviewing the literature, we aim to both define this disease and compare it to infantile and childhood psoriasis. Electronic searches found articles reporting patients with biopsy-proven congenital psoriasis. We recorded clinical features, such as family history, anatomic involvement, and disease severity. We compared these data with previous descriptions of infantile and childhood psoriasis. We included nine patients with congenital psoriasis in our analysis. No patient had a first-degree family history of psoriasis. While the face, scalp, chest, and trunk were frequently involved, the buttocks generally were spared. Several patients had persistent disease despite therapy. In this series, congenital psoriasis differed from infantile and childhood psoriasis in several respects. Specifically, congenital psoriasis was associated with a lower prevalence of relevant family history, which could increase over time, and a different pattern of anatomic involvement, which may reflect exposure to age-associated environmental factors. Although several patients with congenital psoriasis had severe disease, this likely represents publication bias. Additional reports of congenital psoriasis with extended follow-up are needed to better characterize this condition.

  4. Macular colobomas in Leber's congenital amaurosis.

    PubMed

    Margolis, S; Scher, B M; Carr, R E

    1977-01-01

    Two siblings with Leber's congenital amaurosis had the unusual association of bilateral macular colobomas. In addition to the colobomas, the patients also had deafmutism, severe myopia, large corneas, and an unusual discrete area of peripapillary tapetoretinal sheen. Electrodiagnostic evaluation of patients with congenitally poor visual ascuity and a central retinal defect differentiated a localized loss of funciton from a degeneration involving the entire retina.

  5. Hereditary congenital unilateral deafness: a new disorder?

    PubMed

    Dikkers, Frederik G; Verheij, Joke B G M; van Mechelen, Monique

    2005-04-01

    Congenital unilateral deafness is a rare disorder. The prevalence rates are unknown. The prevalence of children with severe to profound hearing losses that are congenital (or acquired before the development of speech and language) is 0.5 to 3 per 1,000 live births. Evidently, congenital unilateral deafness must have a lower prevalence. The purpose of this research was to present a new disorder, hereditary congenital unilateral deafness. A pedigree is presented in which both male and female members display symptoms of congenital unilateral deafness. Two affected persons and a normal-hearing member of the family have vestibular abnormalities without dysequilibrium. The inheritance pattern of this new syndrome is not clear. We hypothesize that the disorder might be new. A family like this has never before been presented in the medical literature.

  6. Congenital Lobar Emphysema with Pulmonary Extramedullary Hematopoiesis.

    PubMed

    Suryawanshi, Kishor; Nikumbh, Dhiraj; Singhavi, Sudhir; Damle, Rajshri; Dravid, Nandkumar

    2017-01-01

    Congenital lobar emphysema is a one of the rare variety of congenital abnormality of the lung causing respiratory distress in newborns and infants. Herein, we report a case of congenital lobar emphysema in a 3-week-old female admitted to the pediatric intensive care unit with severe respiratory distress. CT scan revealed a hyperinflated, hyperlucent left upper lobe, collapse of the ipsilateral lung and marked mediastinal shift to the right. The patient underwent emergency left upper lobectomy with improvement of her condition in the postoperative period. Histopathological findings confirmed the clinical diagnosis of congenital lobar emphysema with an unusual finding of pulmonary extramedullary hematopoiesis. Congenital lobar emphysema often presents a diagnostic and therapeutic dilemma and therefore requires a high index of suspicion in neonates presenting with respiratory distress to avoid morbidity and mortality.

  7. Congenital feeding and swallowing disorders.

    PubMed

    Abadie, Véronique; Couly, Gérard

    2013-01-01

    Although poorly recognized and studied, congenital sucking, swallowing, and/or feeding disorders are common. They can be the symptoms that reveal a neuromuscular disease, or that complicate a neuromuscular disease. It is essential to know feeding physiology during fetal and infant development in order to understand the variety of its disorders and to direct correctly diagnostic and therapeutic processes. A good semiological analysis will identify the symptoms. Several investigations help to determine the mechanism of the trouble (fiber endoscopy, videofluoroscopy, facial and swallowing electromyography, esophageal manometry, etc.). Other investigations, in addition to clinical assessments, help to identify the cause of the whole picture (peripheral electromyography, brain MRI, genetic or metabolic investigations, etc.). The main causes of sucking, swallowing, and feeding disorders are lesions of the brainstem (malformations of the posterior fossa, neonatal brainstem tumors, agenesis of cranial nerves, clastic lesion of the posterior brain, craniovertebral anomalies, syndromes that involve the rhombencephalic development such as Pierre Robin sequence, CHARGE syndrome, etc.). Suprabulbar lesions, neuromuscular disorders, peripheral esophageal, digestive, and laryngeal anomalies and dysfunctions can also be involved. The main principles of the management of congenital sucking, swallowing, and feeding disorders are the following: cure the cause if possible, facilitate the sucking reflex, preventing deleterious consequences of aspiration, preventing malnutrition, and preventing posttraumatic anorexia. Advice can be given to caregivers and physiotherapists who take charge of these children. Copyright © 2013 Elsevier B.V. All rights reserved.

  8. [Congenital buried penis in children].

    PubMed

    Lardellier-Reynaud, F; Varlet, F; François, M; Mouriquand, P

    2011-10-01

    Congenital buried penis in children is an uncommon and poorly known entity. The aims of this study were to report an original technique for correction of buried penis and to evaluate its results. It is a retrospective study of buried penis operated between November 1998 and May 2009. The acquired concealed penis and hypospadias were excluded from this study. The procedure includes several stages: degloving of the penis through a ventral anchor-like incision; division of the adherent layers surrounding the corpora cavernosa; anchorage of the Buck's fascia to the corporeal albuginea at the base of the penis; and ventral cutaneous coverage. The long-term results were evaluated by the parents and the surgeon according to anatomical, functional and aesthetic criterion. Twenty-five boys were evaluated. The mean age at surgery was 27 months (seven days-120 months). Two children required an additional plasty. Results were satisfactory in 24 cases (96%). One child required a redo procedure for unsatisfactory outcome. Of seven children with redundant skin (28%), three underwent a complementary cutaneous excision. Congenital buried penis remains a controversial issue. Our technique was simple and easily reproducible. Voiding difficulties, urinary tract infection or strong parental request were the main indications of this surgery in our experience. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

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

    PubMed

    Pellerin, D

    1993-02-01

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

  10. Congenital PCB poisoning: a reevaluation

    SciTech Connect

    Miller, R.W.

    1985-05-01

    A review of the literature reveals a need to clarify the pathologic physiology of congenital polychlorinated biphenyl (PCB) poisoning, which is characterized by intrauterine growth retardation, brown staining of the skin and mucous membranes as in Addison's disease, natal teeth, widely open fontanelles and sagittal suture and apparent overgrowth of the gingiva. The skull abnormalities may represent irregular calcification, with natal teeth appearing because the bone of the mandible is penetrated more easily than usual. Some fetuses were poisoned at the time the mothers ingested the oil; others were affected in the subsequent years from residual contamination in the mothers' bodies. The misadventure in Japan was repeated in Taiwan in 1979. The seven congenital cases in Taiwan reported thus far seem to differ from those in Japan. In Taiwan the noses were somewhat black, two of the infants did not have low birth weight and the osseous abnormalities of the skull and gingival hyperplasia were not observed. Systematic followup studies should be made in Taiwan of the children born within 2 years of maternal poisoning with PCBs. Special attention should be given to age at first dentition and skull-X-rays for spotty calcification, among other measures of physical, neurologic and intellectual development.

  11. Congenital toxoplasmosis: an uncommon disease in Thailand.

    PubMed

    Pengsaa, Krisana; Hattasingh, Weerawan

    2015-02-01

    The seroprevalence of toxoplasma antibodies in pregnant women and the prevalence of congenital infection differ widely between countries. A few cases of congenital toxoplasmosis diagnosed after the neonatal period, with long-term sequelae, have been reported in Thailand. No data on the prevalence of congenital toxoplasmosis have been documented and no screening for toxoplasmosis during pregnancy has been undertaken in Thailand. A questionnaire enquiring about cases of congenital toxoplasmosis during 1995-2013 was distributed to paediatricians in referral and university hospitals in Thailand and the responses were analysed. Specific toxoplasma IgM antibody and clinical features were used for diagnosis. There were 20 cases - 13 most likely and seven suspected cases of congenital toxoplasmosis. Most patients had systemic manifestations, but only 25% of diagnosed patients exhibited the classic triad of hydrocephalus, cerebral calcification and chorioretinitis. One of the five deceased patients lived beyond the age of 13 years and died of a pulmonary infection. All 15 surviving cases developed deafness, visual impairment or developmental delay. Twenty cases of congenital toxoplasmosis are reported. Delayed diagnosis and treatment resulted in a poor outcome. The prevention of toxoplasmosis in pregnant women and prompt diagnosis and appropriate treatment of congenital toxoplasmosis should be a priority in order to prevent a poor outcome in infected children.

  12. Lash ptosis in congenital and acquired blepharoptosis.

    PubMed

    Malik, Khurram J; Lee, Michael S; Park, D J John; Harrison, Andrew R

    2007-12-01

    To determine the prevalence of lash ptosis (LP) in eyes with congenital and acquired blepharoptosis. We retrospectively graded photographs of 228 eyes from 174 patients with congenital or acquired blepharoptosis for LP. We used a 4-point rating scale for LP, in which 0 indicates no LP; 1, minimal; 2, moderate; and 3, severe. A prospective evaluation of LP in 30 eyes from 15 patients without blepharoptosis (control eyes) was also performed. A total of 107 eyes (in 87 patients) demonstrated congenital blepharoptosis and 121 eyes (in 87 patients) had acquired blepharoptosis. A moderate to severe rating of LP (rating, >/= 2) occurred in 60.7% of eyes with congenital blepharoptosis, 28.9% of eyes with acquired blepharoptosis, and 6.7% of control eyes. Lash ptosis (rating, >/= 1) was present in 91.6% of eyes with congenital blepharoptosis, 83.5% of eyes with acquired blepharoptosis, and 33.3% of control eyes. The mean LP rating was 2.1 for eyes with congenital blepharoptosis, 1.3 for eyes with acquired blepharoptosis, and 0.6 for control eyes. Lash ptosis was common in the patients with blepharoptosis. Moderate to severe LP occurred more commonly in all forms of blepharoptosis compared with normal eyes, with more frequent and more severe LP demonstrated in eyes with congenital blepharoptosis.

  13. Norrbottnian congenital insensitivity to pain.

    PubMed

    Minde, Jan K

    2006-04-01

    Congenital insensitivity to pain is a rare hereditary neuropathy. We present patients from a large family in Norrbotten, Sweden with a mutation in the nerve growth factor beta gene (NGFbeta). Using a model of recessive inheritance, we identified an 8.3-Mb region on chromosome 1p11.2-p13.2 shared by the affected individuals in the family. Analysis of candidate genes in the disease-critical region revealed a mutation in the coding region of the NGFbeta gene specific for the disease haplotype. All three severely affected individuals were homozygous for the mutation. The disease haplotype was also observed in both unaffected and mildly affected family members, but in heterozygote form. We have identified 43 patients, 3 homozygous and 40 heterozygous. The homozygous patients have a severe congenital form with onset of symptoms at an early age, most often affecting the lower extremities with insidious progressive joint swellings or painless fractures. Fracture healing was normal, but the arthropathy was progressive, resulting in disabling Charcot joints with gross deformity and instability. These patients lacked deep pain perception in bones and joints and had no protective reflexes, leading to gross bone and joint complications. They also had abnormal temperature perception but normal ability to sweat. There was no mental retardation. Clinically, they fit best into the group HSAN type V. Sural nerve biopsies showed a moderate loss of thin myelinated fibers (Adelta-fibers) and a severe reduction of unmyelinated fibers (C-fibers). 14 of the 40 heterozygous adult patients had mild or moderate problems with joint deformities, usually with only slight discomfort. Treatment was conservative with (if needed) different kinds of orthosis and in three cases joint replacement. Nine patients had neuropathy, and nine patients had no symptoms. In congenital disorders like these, it is important to evaluate the age and also the slowly progressive nature, when considering treatment

  14. Unilateral straight hair and congenital horner syndrome.

    PubMed

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

    2012-06-01

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

  15. Large bimedial rectus recessions in congenital esotropia.

    PubMed Central

    Szmyd, S. M.; Nelson, L. B.; Calhoun, J. H.; Spratt, C.

    1985-01-01

    The success rate of large (6 and 7 mm) bimedial rectus recessions in 45 congenital esotropes with deviations of 50 prism dioptres or greater was found to be 91%. Judgment of final alignment was made six weeks postoperatively, with an average follow-up of 13 months. Large bimedial rectus recessions are an effective surgical treatment for congenital esotropia. This procedure does not significantly alter adduction, and leaves other muscles available should further surgery be necessary. These findings show that initial surgery on three or more muscles is unnecessary in congenital esotropia. PMID:3994944

  16. Congenital onychoheterotopia involving multiple toe nails.

    PubMed

    Yadav, Savita; Khullar, Geeti; Dogra, Sunil

    2013-01-01

    Onychoheterotopia is an uncommon condition in which nail tissue is found beyond the common nail unit of the digits of the hands and feet, most often on the fifth digit of the hand. It represents an extra and independent nail that can be present either congenitally, or more commonly, acquired following trauma. The exact pathogenesis of the congenital type is undetermined. We report a 25-year-old male with multiple congenital ectopic nails of the toes since birth, which has not been reported before.

  17. Postural deformities in congenital nephrotic syndrome.

    PubMed Central

    Morgan, G; Postlethwaite, R J; Lendon, M; Houston, I B; Savage, J M

    1981-01-01

    Six successive cases of congenital nephrotic syndrome are described. Each one showed flexion deformities of the knees and hips, widely open anterior and posterior fontanelles, and wide separation of the skull sutures. These abnormalities were present not only in cases in which the renal histology was of the microcystic Finnish type of congenital nephrotic syndrome, but also in those in which the histological picture was one of the variants associated with congenital nephrotic syndrome. It is suggested that such abnormalities are postural deformities, possibly produced by the large placenta. Images Fig. 1 Fig. 2 PMID:7332344

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

    PubMed

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

    1988-02-01

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

  19. [Sex differences in congenital heart disease].

    PubMed

    Aubry, P; Demian, H

    2016-12-01

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

  20. Management of Congenital Chest Wall Deformities

    PubMed Central

    Blanco, Felix C.; Elliott, Steven T.; Sandler, Anthony D.

    2011-01-01

    Congenital chest wall deformities are considered to be anomalies in chest wall growth. These can be categorized as either rib cage overgrowth or deformities related to inadequate growth (aplasia or dysplasia). Rib cage overgrowth leads to depression of the sternum (pectus excavatum) or protuberance of the sternum (pectus carinatum) and accounts for greater than 90% of congenital chest wall deformities. The remaining deformities are a result of inadequate growth. Evolution in the management of congenital chest wall deformities has made significant progress over the past 25 years. This article will review chest wall deformities and the current management strategies of these interesting anomalies. PMID:22294949

  1. Public health research in congenital heart disease.

    PubMed

    Lara, Diego A; Lopez, Keila N

    2014-01-01

    Public health research is an integral part of the study of congenital heart disease. While this type of research has become more popular, particularly over the past decade, it has a history that stretches back to almost the beginnings of pediatric cardiology as a field. This review aims to introduce the concepts and methodologies of public health and how they relate to congenital heart disease, describe some of the challenges of traditional research methods in congenital heart disease, describe the history of public health research, and demonstrate the relevance of public health research, particularly databases, to pediatric cardiology fellows.

  2. High hyperopia in Leber's congenital amaurosis.

    PubMed

    Wagner, R S; Caputo, A R; Nelson, L B; Zanoni, D

    1985-10-01

    Few studies comment on the type of refractive errors found in patients with Leber's congenital amaurosis. The association of an uncomplicated infantile form of this condition with high hyperopia but without systemic complications has been suggested. In a retrospective study, we identified 11 patients who satisfied the criteria for the diagnosis of this subtype of Leber's congenital amaurosis. All of our cases were found to have at least +6.00 diopters of hyperopia on cycloplegic refraction. No systemic abnormalities were found in any of these children. We suggest that high hyperopia be included in the diagnostic criteria of this specific form of Leber's congenital amaurosis.

  3. Hyperopia in complicated Leber's congenital amaurosis.

    PubMed

    Dagi, L R; Leys, M J; Hansen, R M; Fulton, A B

    1990-05-01

    We studied the refractive status of 13 children with Leber's congenital amaurosis. Seven had the disease complicated by neurological or other systemic abnormalities, while the other 6 patients had only ophthalmic abnormalities. All 13 patients were hyperopic. The magnitude of hyperopia did not differ significantly between the complicated and uncomplicated groups. Therefore, one cannot, as previously suggested, use the presence of high hyperopia to differentiate an uncomplicated form of Leber's congenital amaurosis from one complicated by neurologic or other systemic abnormalities. The concurrence of hyperopia with Leber's congenital amaurosis should not steer the physician away from careful neurologic systemic or biochemical evaluation of the child.

  4. Congenital dental disease of horses.

    PubMed

    DeBowes, R M; Gaughan, E M

    1998-08-01

    Equine congenital dental deformities are not limited merely to those presented here; however, the examples discussed offer the reader an appreciation for the range of severity and complexity that may be found in affected horses. The veterinarian is obligated to provide the best possible care for the patient and to relieve animal suffering. The lack of definitive evidence for heritability of many of these defects can place the veterinarian in an untenable position, particularly when presented with literature that proclaims or suggests without evidence that a particular condition is inherited. In such cases, the veterinarian is encouraged to counsel owners, citing substantiated medical information, and to recommend that owners make the decision to eliminate the affected animals' ability to reproduce.

  5. Congenital anomalies surveillance in Canada.

    PubMed

    Lowry, R Brian

    2008-01-01

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

  6. X-linked congenital retinoschisis.

    PubMed

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

    1990-01-01

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

  7. [Congenital bone marrow failure syndromes. The last 20 years by the example of congenital neutropenia].

    PubMed

    Zeidler, C; Welte, K

    2007-12-01

    Congenital bone marrow failure syndromes are rare diseases characterised by a reduction of mature blood cells (erythrocytes, platelets, neutrophils). Examples of such disorders include congenital aplastic anemia (Fanconi anemia), congenital hypoplastic anemia (Diamond-Blackfan anemia), congenital neutropenias (Kostmann syndrome, cyclic neutropenia, Shwachman-Diamond syndrome and others), and congenital thrombocytopenias (TAR syndrome, amegacaryocytic thrombocytopenia). In Germany the prevalence of congenital bone marrow failure syndromes can be estimated to be 10/1,000,000 children and adolescents. Although rare, these diseases contributed significantly to the current knowledge on normal haematopoiesis. The documentation of rare diseases by patient registries and the cooperation of clinical centres within networks are most important for the resolution of such disorders. In the following, congenital neutropenia will be presented as an example: Until the 1980s congenital neutropenia could only be classified clinically. Few cases had been reported in the literature. All subtypes were therefore collected under the general term "congenital neutropenia". The establishment of an international network of experts and the long-term documentation of the courses of disease in a common database allowed for statistically workable data in response to therapy, secondary diagnoses and the long-term prognosis. A close cooperation with scientists finally led to the characterisation of genetically different disorders with common pathomechanisms.

  8. Genetics Home Reference: congenital insensitivity to pain

    MedlinePlus

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

  9. Transcription factor pathways and congenital heart disease.

    PubMed

    McCulley, David J; Black, Brian L

    2012-01-01

    Congenital heart disease is a major cause of morbidity and mortality throughout life. Mutations in numerous transcription factors have been identified in patients and families with some of the most common forms of cardiac malformations and arrhythmias. This review discusses transcription factor pathways known to be important for normal heart development and how abnormalities in these pathways have been linked to morphological and functional forms of congenital heart defects. A comprehensive, current list of known transcription factor mutations associated with congenital heart disease is provided, but the review focuses primarily on three key transcription factors, Nkx2-5, GATA4, and Tbx5, and their known biochemical and genetic partners. By understanding the interaction partners, transcriptional targets, and upstream activators of these core cardiac transcription factors, additional information about normal heart formation and further insight into genes and pathways affected in congenital heart disease should result. Copyright © 2012 Elsevier Inc. All rights reserved.

  10. Genetics Home Reference: Leber congenital amaurosis

    MedlinePlus

    ... Chung DC, Traboulsi EI. Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future ... refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat. ...

  11. [Congenital toxoplasmosis: severe ocular and neurological complications].

    PubMed

    Hoekstra, Franka; Buzing, Cecile; Sporken, Jan M J; Erasmus, Corry E; van der Flier, Michiel; Semmekrot, Ben A

    2011-01-01

    Two infants with congenital toxoplasmosis are presented. A girl born prematurely was treated postnatally after the mother had received antimicrobial treatment during pregnancy for acute toxoplasmosis. Apart from being small for gestational age, she remained without symptoms and treatment was ceased after 13 months. A 2-month-old boy presented with hydrocephalus and chorioretinitis, consistent with congenital toxoplasmosis. Despite antimicrobial treatment, at 12 months of age he suffered from epilepsy, cerebral palsy and vision impairment. Most infants with congenital toxoplasmosis (2 per 1000 live births in the Netherlands) are asymptomatic at birth. The education of pregnant women is crucial for the prevention of congenital toxoplasmosis. Awareness of antenatal and postnatal presenting signs and symptoms is important for clinicians, because early diagnosis and treatment may minimize sequelae. Untreated, the majority of affected infants will develop chorioretinitis, deafness and/or neurological symptoms.

  12. Genetics Home Reference: autosomal recessive congenital methemoglobinemia

    MedlinePlus

    ... it alters a molecule within these cells called hemoglobin . Hemoglobin carries oxygen to cells and tissues throughout the ... autosomal recessive congenital methemoglobinemia , some of the normal hemoglobin is replaced by an abnormal form called methemoglobin, ...

  13. Genetics Home Reference: critical congenital heart disease

    MedlinePlus

    ... right ventricle, D-transposition of the great arteries , Ebstein anomaly, hypoplastic left heart syndrome , interrupted aortic arch, ... Testing Registry: Congenital heart disease Genetic Testing Registry: Ebstein's anomaly Genetic Testing Registry: Hypoplastic left heart syndrome ...

  14. Cervicobrachialgia with congenital vertebral anomalies and diastematomyelia.

    PubMed

    Roosen, N; De Moor, J

    1984-05-01

    A case of diastematomyelia in an adult female patient is reported. The relationship of the cervicobrachialgia, which was the presenting sign, to the diastematomyelia and the congenital vertebral anomalies is discussed.

  15. Congenital Insensitivity to Pain (HSNA type IV).

    PubMed

    Millichap, J Gordon

    2015-04-01

    Investigators from New York University, NY, studied 14 patients with congenital insensitivity to pain with anhidrosis (CIPA), compared to 10 patients with chronically deficient sympathetic activity (pure autonomic failure), and 15 normal age-matched controls.

  16. Congenital esophageal stenosis owing to tracheobronchial remnants

    PubMed Central

    Rebelo, Priscila Guyt; Ormonde, João Victor C.; Ormonde, João Baptista C.

    2013-01-01

    OBJECTIVE To emphasize the need of an accurate diagnosis of congenital esophageal stenosis due to tracheobronchial remnants, since its treatment differs from other types of congenital narrowing. CASE DESCRIPTION Four cases of lower congenital esophageal stenosis due to tracheobronchial remnants, whose definitive diagnosis was made by histopathology. Except for the last case, in which a concomitant anti-reflux surgery was not performed, all had a favorable outcome after resection and anastomosis of the esophagus. COMMENTS The congenital esophageal stenosis is an intrinsic narrowing of the organâ€(tm)s wall associated with its structural malformation. The condition can be caused by tracheobronchial remnants, fibromuscular stenosis or membranous diaphragm and the first symptom is dysphagia after the introduction of solid food in the diet. The first-choice treatment to tracheobronchial remnants cases is the surgical resection and end-to-end anastomosis of the esophagus. PMID:24142326

  17. Congenital and Genetic Disease in Domestic Animals

    ERIC Educational Resources Information Center

    Mulvihill, John J.

    1972-01-01

    Reviews observations on domestic animals that have led to the identification of environmental teratogens, and have provided insight into the pathogenesis of congenital defects and genetic diseases in man." (Author/AL)

  18. Submacular hemorrhage secondary to congenital toxoplasmosis

    PubMed Central

    Costa, Ana Luiza Fontes de Azevedo; Martins, Thiago Gonçalves dos Santos; Moncada, Francisco Javier Solano; Motta, Mário Martins dos Santos

    2014-01-01

    ABSTRACT We report the case of a patient with congenital toxoplasmosis and submacular hemorrhage caused by a neovascular membrane who underwent an intravitreal injection of C3F8 and bevacizumab, and had a good visual recovery. PMID:24728255

  19. Ancient history of congenital adrenal hyperplasia.

    PubMed

    New, Maria I

    2011-01-01

    Although there are many erudite reports on the history of endocrinology and endocrine disorders, the history of congenital adrenal hyperplasia has not been published. I have tried to review ancient as well as modern history of CAH.

  20. Congenital lung lesions: Postnatal management and outcome.

    PubMed

    Parikh, Dakshesh H; Rasiah, Shree Vishna

    2015-08-01

    Antenatal diagnosis of lung lesion has become more accurate resulting in dilemma and controversies of its antenatal and postnatal management. Majority of antenatally diagnosed congenital lung lesions are asymptomatic in the neonatal age group. Large lung lesions cause respiratory compromise and inevitably require urgent investigations and surgery. The congenital lung lesion presenting with hydrops requires careful postnatal management of lung hypoplasia and persistent pulmonary hypertension. Preoperative stabilization with gentle ventilation with permissive hypercapnia and delayed surgery similar to congenital diaphragmatic hernia management has been shown to result in good outcome. The diagnostic investigations and surgical management of the asymptomatic lung lesions remain controversial. Postnatal management and outcome of congenital cystic lung lesions are discussed.

  1. Screening programme for congenital toxoplasmosis in France.

    PubMed

    Thulliez, P

    1992-01-01

    The high prevalence of Toxoplasma gondii infection in France led to the establishment of a national screening programme. Preventive measures were progressively introduced, and these became compulsory in 1978 with the result that the incidence of congenital toxoplasmosis is now markedly reduced. Further improvements may include more systematic sampling from women before pregnancy, better and adequate health education and centralized notification of both maternal and congenital cases of toxoplasmosis.

  2. Congenital bilateral sternocleidomastoid contracture: a case report.

    PubMed

    Babu, Manohar K V; Lee, Peter; Mahadev, Arjandas; Lee, Eng Hin

    2009-05-01

    Unilateral sternocleidomastoid muscle contracture causing torticollis and other secondary deformities such as facial scoliosis, plagiocephaly and scoliosis of cervical spine are well known. The aetiology and pathogenesis is still intriguing. Although unilateral contracture of sternocleidomastoid is seen quite often, bilateral sternocleidomastoid contracture is almost unheard of. A review of the English literature revealed no cases of bilateral congenital sternocleidomastoid contracture being reported. We present a case report of a 19-year-old girl with congenital bilateral sternocleidomastoid contracture.

  3. Congenital hemangiopericytoma: two cases of familiar presentation.

    PubMed

    Margarit, J; Rodó, J; Costa, J M; Vives, E; Escorihuela, F; Cardesa, A; Ribalta, T

    1997-08-01

    We report two cases of congenital hemangiopericytoma localized in the abdominal wall in the first patient and scalp in the second. The treatment of both cases consisted in the complete resection of the tumor mass. Four and two years later the patients remain asymptomatic. The special interest in this case report lies in the extremely low incidence of congenital hemangiopericytoma and that this is the first reference to affected siblings.

  4. Congenital diseases of the gastrointestinal tract.

    PubMed

    Lentze, M

    2014-05-01

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

  5. Leber's congenital amaurosis with associated nephronophthisis.

    PubMed

    Roizenblatt, J; Peduti Cunha, L A

    1980-01-01

    The authors present a case of a 15-year-old girl with Leber's congenital amaurosis with associated nephronophthisis. The main findings in this case are: congenital blindness; enophthalmos; photophobia; nystagmus; keratoconus; cataracts; pigmentary degeneration in the fundus of both eyes; progressive uremia with absence of hematuria, proteinuria, pyuria, and glycosuria; low urinary density, normal lipidic profile; osteoporosis; absence of edema; polydipsia; polyuria; and a history of consanguinity between her parents. Tranmission of this entity allows an autosomal recessive pattern.

  6. Congenital abnormalities associated with extrahepatic portal hypertension.

    PubMed Central

    Odièvre, M; Pigé, G; Alagille, D

    1977-01-01

    Congenital abnormalities were present in 12 out of 30 (40%) children with extrahepatic portal hypertension of unknown cause, but in only 2 out of 17 (12%) children with extnahepatic portal hypertension secondary to umbilical vein catheterization or omphalitis. The most frequent abnormalities in this series and in published reports were atrial septal defect, malformation of the biliary tract, and anomalous inferior vena cava. These findings are consistent with the view that some cases with extrahepatic portal hypertension are congenital in origin. PMID:869567

  7. Congenital abnormalities associated with extrahepatic portal hypertension.

    PubMed

    Odièvre, M; Pigé, G; Alagille, D

    1977-05-01

    Congenital abnormalities were present in 12 out of 30 (40%) children with extrahepatic portal hypertension of unknown cause, but in only 2 out of 17 (12%) children with extnahepatic portal hypertension secondary to umbilical vein catheterization or omphalitis. The most frequent abnormalities in this series and in published reports were atrial septal defect, malformation of the biliary tract, and anomalous inferior vena cava. These findings are consistent with the view that some cases with extrahepatic portal hypertension are congenital in origin.

  8. Congenital Symmastia: A 3-Step Approach

    PubMed Central

    Allam, Atef A.

    2016-01-01

    Summary: Congenital symmastia is a medial confluence of the breasts. It is a rare anomaly with few reports in the literature and no standard treatment. In this article, we present a case of congenital symmastia treated by 3 steps: liposuction, fixation of the skin to the chest wall in the area of the intermammary sulcus, and postoperative intermammary compression. A successful result was achieved with normal cleavage between the breasts. So, this is considered the ideal treatment for this condition.

  9. Alternatives to percussion and postural drainage. A review of mucus clearance therapies: percussion and postural drainage, autogenic drainage, positive expiratory pressure, flutter valve, intrapulmonary percussive ventilation, and high-frequency chest compression with the ThAIRapy Vest.

    PubMed

    Langenderfer, B

    1998-01-01

    The purpose of this article is to review published studies on the efficacy of old and new mucus clearance techniques and to develop recommendations for different groups of patients. Mucus clearance is a problem in cystic fibrosis, bronchiectasis, and many other pulmonary conditions. Percussion and postural drainage (P & PD) was the traditional method of facilitating mucus clearance, but the many hazards and contraindications along with the onerous nature and resultant poor patient compliance of this procedure have led to the development of alternative therapies. Research studies with cystic fibrosis patients support the efficacy of P & PD in patients who can tolerate it. However, equivalent sputum production can be accomplished with autogenic drainage, positive expiratory pressure, and Flutter valve therapy without the assistance of another caregiver, as long as the patient has the motivation, breath control, and neuromuscular function to perform these modalities. The Intrapulmonary Percussive Ventilation device and high-frequency chest compression with the ThAIRapy vest involve more elaborate and expensive equipment, yet these devices provide mucus clearance assistance to patients who lack the ability to perform the simpler techniques. Both mechanized modalities promote independence and self-care in the patient, and the effectiveness of both has been supported by the limited research published to date. Which alternative to recommend depends on the ability, motivation, preference, needs, and resources of each patient.

  10. Intrapulmonary activation of the angiotensin-converting enzyme type 2/angiotensin 1-7/G-protein-coupled Mas receptor axis attenuates pulmonary hypertension in Ren-2 transgenic rats exposed to chronic hypoxia.

    PubMed

    Hampl, V; Herget, J; Bíbová, J; Baňasová, A; Husková, Z; Vaňourková, Z; Jíchová, Š; Kujal, P; Vernerová, Z; Sadowski, J; Červenka, L

    2015-01-01

    The present study was performed to evaluate the role of intrapulmonary activity of the two axes of the renin-angiotensin system (RAS): vasoconstrictor angiotensin-converting enzyme (ACE)/angiotensin II (ANG II)/ANG II type 1 receptor (AT₁) axis, and vasodilator ACE type 2 (ACE2)/angiotensin 1-7 (ANG 1-7)/Mas receptor axis, in the development of hypoxic pulmonary hypertension in Ren-2 transgenic rats (TGR). Transgene-negative Hannover Sprague-Dawley (HanSD) rats served as controls. Both TGR and HanSD rats responded to two weeks´ exposure to hypoxia with a significant increase in mean pulmonary arterial pressure (MPAP), however, the increase was much less pronounced in the former. The attenuation of hypoxic pulmonary hypertension in TGR as compared to HanSD rats was associated with inhibition of ACE gene expression and activity, inhibition of AT₁receptor gene expression and suppression of ANG II levels in lung tissue. Simultaneously, there was an increase in lung ACE2 gene expression and activity and, in particular, ANG 1-7 concentrations and Mas receptor gene expression. We propose that a combination of suppression of ACE/ANG II/AT₁receptor axis and activation of ACE2/ANG 1-7/Mas receptor axis of the RAS in the lung tissue is the main mechanism explaining attenuation of hypoxic pulmonary hypertension in TGR as compared with HanSD rats.

  11. Approach to the diagnosis of congenital myopathies

    PubMed Central

    North, Kathryn N.; Wang, Ching H.; Clarke, Nigel; Jungbluth, Heinz; Vainzof, Mariz; Dowling, James J.; Amburgey, Kimberly; Quijano-Roy, Susana; Beggs, Alan H.; Sewry, Caroline; Laing, Nigel G.; Bönnemann, Carsten G.

    2017-01-01

    Over the past decade there have been major advances in defining the genetic basis of the majority of congenital myopathy subtypes. However the relationship between each congenital myopathy, defined on histological grounds, and the genetic cause is complex. Many of the congenital myopathies are due to mutations in more than one gene, and mutations in the same gene can cause different muscle pathologies. The International Standard of Care Committee for Congenital Myopathies performed a literature review and consulted a group of experts in the field to develop a summary of (1) the key features common to all forms of congenital myopathy and (2) the specific features that help to discriminate between the different genetic subtypes. The consensus statement was refined by two rounds of on-line survey, and a three-day workshop. This consensus statement provides guidelines to the physician assessing the infant or child with hypotonia and weakness. We summarise the clinical features that are most suggestive of a congenital myopathy, the major differential diagnoses and the features on clinical examination, investigations, muscle pathology and muscle imaging that are suggestive of a specific genetic diagnosis to assist in prioritisation of genetic testing of known genes. As next generation sequencing becomes increasingly used as a diagnostic tool in clinical practise, these guidelines will assist in determining which sequence variations are likely to be pathogenic. PMID:24456932

  12. Management of adolescents with congenital adrenal hyperplasia.

    PubMed

    Merke, Deborah P; Poppas, Dix P

    2013-12-01

    The management of congenital adrenal hyperplasia involves suppression of adrenal androgen production, in addition to treatment of adrenal insufficiency. Management of adolescents with congenital adrenal hyperplasia is especially challenging because changes in the hormonal milieu during puberty can lead to inadequate suppression of adrenal androgens, psychosocial issues often affect adherence to medical therapy, and sexual function plays a major part in adolescence and young adulthood. For these reasons, treatment regimen reassessment is indicated during adolescence. Patients with non-classic congenital adrenal hyperplasia require reassessment regarding the need for glucocorticoid drug treatment. No clinical trials have compared various regimens for classic congenital adrenal hyperplasia in adults, thus therapy is individualised and based on the prevention of adverse outcomes. Extensive patient education is key during transition from paediatric care to adult care and should include education of females with classic congenital adrenal hyperplasia regarding their genital anatomy and surgical history. Common issues for these patients include urinary incontinence, vaginal stenosis, clitoral pain, and cosmetic concerns; for males with classic congenital adrenal hyperplasia, common issues include testicular adrenal rest tumours. Transition from paediatric to adult care is most successful when phased over many years. Education of health-care providers on how to successfully transition patients is greatly needed. Copyright © 2013 Elsevier Ltd. All rights reserved.

  13. Management of adolescents with congenital adrenal hyperplasia

    PubMed Central

    Merke, Deborah P; Poppas, Dix P

    2014-01-01

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

  14. [Congenital erythropoietic porphyria : An update].

    PubMed

    Wenner, C; Neumann, N J; Frank, J

    2016-03-01

    Congenital erythropoetic porphria is a very rare type of autosomal recessive nonacute porphyria. Homozygous or compound heterozygous mutations in the uroporphyrinogen III consynthase gene cause a marked enzymatic deficiency of uroporphyrinogen III consynthase, the fourth enzyme along the heme biosynthetic pathway. Clinically, affected patients are characterized by a moderate to severe photosensitivity. Starting early in infancy, they develop blisters, erosions, and exulcerations in sun-exposed areas of the body, often resulting in scar formation and mutilation. Besides the cutaneous changes, hemolytic anemia, transfusion-dependent pancytopenia, hepatosplenomegaly and liver cirrhosis can occur. Due to increased susceptibility for infections and because of the hematological and hepatic complications, affected individuals have a decreased life expectancy, rarely exceeding 40 years of age. Currently, no causal treatment is available for the disorder. Therefore, the most important therapeutic modality is strict avoidance of sunlight, preferably by inversion of the day-night rhythm, or at least consequent photoprotection with adequate clothing. In severe cases, bone marrow or stem cell transplantation should be considered.

  15. Microtia and congenital aural atresia.

    PubMed

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

    2012-11-01

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

  16. [Congenital muscular dystrophies in children].

    PubMed

    Scavone-Mauro, Cristina; Barros, Graciela

    2013-09-06

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

  17. Congenital abnormalities of the goat.

    PubMed

    Basrur, P K

    1993-03-01

    Congenital abnormalities of genetic and environmental causes constitute a striking proportion of the afflictions seen in goats. These include a variety of malformations and metabolic diseases that could occur in all breeds but tend to exhibit predisposition in some breeds of goats. Genetic abnormalities for which the carrier state is detectable with the aid of enzymes and surface protein markers can be eliminated from goat populations, whereas common polygenic disorders including udder problems in does and gynecomastia in bucks are more difficult to eradicate because the mutant genes responsible for these traits generally do not declare themselves until inbreeding brings together a critical concentration of liability genes to create a crisis. A substantial reduction of common abnormalities in this species, such as intersexuality in dairy breeds, abortion in Angora breed, and arthritis in the Pygmy breed, will require a change in breeders' preference and selection practice. In making these changes, however, the beneficial traits will have to be balanced against the undesirable effects of the selected mutant genes (pleiotropy), which hold the key to success or failure of a breed under domestication.

  18. Diagnosis of congenital fibrinogen disorders.

    PubMed

    Lebreton, Aurélien; Casini, Alessandro

    2016-08-01

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

  19. Type 2 congenital pulmonary airway malformation and congenital nephrotic syndrome: report of a new association.

    PubMed

    Millington, Karmaine A; Mani, Haresh

    2013-01-01

    Type 2 congenital pulmonary airway malformation (CPAM) has been reported in association with many other congenital anomalies. To the best of our knowledge, however, an association of type 2 CPAM with congenital nephrotic syndrome has not been heretofore reported. We present the 1st report of such an association in a boy who had a prenatal diagnosis of cystic lung malformation and was found to have congenital nephrotic syndrome (diffuse mesangial sclerosis) at 1 month of age. A prenatal ultrasonogram had also shown oligohydramnios, and additionally the child had cleft lip and palate. There was no family history of childhood renal or pulmonary disease, and genetic testing for genes mutated in congenital nephrotic syndrome was negative.

  20. Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs)

    PubMed Central

    Assaf, A A

    2011-01-01

    Congenital loss of innervation to the extra-ocular muscles (EOMs) can have a profound effect on the target muscle. This has been well recognised in Duane's retraction syndrome. However, it has been less emphasised in other congenital oculo-motor disorders. Such congenital ocular motor defects have been expanded to include DRS, congenital fibrosis of EOMs, monocular elevation defect, Möbius syndrome, as well as several other non-ocular muscles supplied by cranial nerves such as facial muscles. Such loss of innervation to motor muscles can be unified as a defined clinical entity, which can be labelled as congenital innervation dysgenesis syndrome or CID for short. CID may also affect other muscles supplied by nerves other than the cranial nerves and may be sensory as well as motor. PMID:21720410

  1. Congenital malaria in Urabá, Colombia

    PubMed Central

    2011-01-01

    Background Congenital malaria has been considered a rare event; however, recent reports have shown frequencies ranging from 3% to 54.2% among newborns of mothers who had suffered malaria during pregnancy. There are only a few references concerning the epidemiological impact of this entity in Latin-America and Colombia. Objective The aim of the study was to measure the prevalence of congenital malaria in an endemic Colombian region and to determine some of its characteristics. Methods A prospective, descriptive study was carried out in the mothers who suffered malaria during pregnancy and their newborns. Neonates were clinically evaluated at birth and screened for Plasmodium spp. infection by thick smear from the umbilical cord and peripheral blood, and followed-up weekly during the first 21 days of postnatal life through clinical examinations and thick smears. Results 116 newborns were included in the study and 80 umbilical cord samples were obtained. Five cases of congenital infection were identified (four caused by P. vivax and one by P. falciparum), two in umbilical cord blood and three in newborn peripheral blood. One case was diagnosed at birth and the others during follow-up. Prevalence of congenital infection was 4.3%. One of the infected newborns was severely ill, while the others were asymptomatic and apparently healthy. The mothers of the newborns with congenital malaria had been diagnosed with malaria in the last trimester of pregnancy or during delivery, and also presented placental infection. Conclusions Congenital malaria may be a frequent event in newborns of mothers who have suffered malaria during pregnancy in Colombia. An association was found between congenital malaria and the diagnosis of malaria in the mother during the last trimester of pregnancy or during delivery, and the presence of placental infection. PMID:21846373

  2. Congenital tumors of the central nervous system.

    PubMed

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

    2010-06-01

    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-free survival.

  3. Genetic Syndromes associated with Congenital Heart Disease.

    PubMed

    Ko, Jung Min

    2015-09-01

    Recent research has demonstrated that genetic alterations or variations contribute considerably to the development of congenital heart disease. Many kinds of genetic tests are commercially available, and more are currently under development. Congenital heart disease is frequently accompanied by genetic syndromes showing both cardiac and extra-cardiac anomalies. Congenital heart disease is the leading cause of birth defects, and is an important cause of morbidity and mortality during infancy and childhood. This review introduces common genetic syndromes showing various types of congenital heart disease, including Down syndrome, Turner syndrome, 22q11 deletion syndrome, Williams syndrome, and Noonan syndrome. Although surgical techniques and perioperative care have improved substantially, patients with genetic syndromes may be at an increased risk of death or major complications associated with surgery. Therefore, risk management based on an accurate genetic diagnosis is necessary in order to effectively plan the surgical and medical management and follow-up for these patients. In addition, multidisciplinary approaches and care for the combined extra-cardiac anomalies may help to reduce mortality and morbidity accompanied with congenital heart disease.

  4. Prevention and avoidance of congenital malformations.

    PubMed

    Nevin, N C

    1988-06-15

    Many congenital abnormalities do not have either a Mendelian pattern of inheritance or an identifiable chromosome abnormality and are described as 'multifactorial' as it is assumed they are determined by several genes, each with added effects and modified to a greater or lesser extent by environmental factors. They include spina bifida and anencephaly, cleft lip or cleft palate or both, congenital heart defect and congenital dislocation of the hip, and they constitute a major community health problem. Developments in genetics, biochemistry and cytogenetics have presented new approaches to the prevention and avoidance of congenital abnormalities. The approaches available for the avoidance of congenital malformations include the avoidance of harmful environmental factors, the screening of the newborn and early treatment, genetic counselling and antenatal monitoring with selective termination. The prevention of neural-tube defects in 'high risk' mothers can be achieved by periconceptional vitamin supplementation. In Northern Ireland, of 438 fully supplemented women, only 4 (0.98%) infants or fetuses among 407 infants and fetuses examined had a neural-tube defect, whereas of 356 unsupplemented women, 16 (4.7%) infants or fetuses among 337 infants or fetuses examined had a neural-tube defect.

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

    PubMed

    Lacka, Katarzyna; Ogrodowicz, Agnieszka

    2004-01-01

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

  6. [Congenital heart disease in Mexico. Regionalization proposal].

    PubMed

    Calderón-Colmenero, Juan; Cervantes-Salazar, Jorge Luis; Curi-Curi, Pedro José; Ramírez-Marroquín, Samuel

    2010-01-01

    Congenital cardiopathies are the most frequent congenital malformations. Reports of its prevalence around the world range from 2.1 to 12.3 for every 1000 newborns. Prevalence in our country remains unknown, but it probably occupies sixth place for mortality in infants less than a year old, and third place for mortality in those aged between 1 and 4 years. Based on birthrate, it is calculated that 10 to 12 000 infants in our country have some cardiac malformation. To understand the magnitude of the problem, it is important to identify the global number of newborns with some congenital cardiopathy each year and the type of malformation that they have, in order to determine the necessary resources and to plan their distribution. The main objective of regionalization is the justification of the resources with an emphasis in the specialized medical services to provide the best results for the patients. Hence, reason, based on the resources of each state, as well as their natality and infant mortality rates related to congenital cardiovascular pathology, we should proceed to regionalize the attention, and to simultaneously create a trustworthy database of the congenital cardiopathies. This should have many benefits, such as increase the number of total attended cases, improve the quality of attention, use appropriately the existent resources, and -surely- decrease the infant mortality.

  7. Congenital scoliosis: an up-to-date

    PubMed Central

    Burnei, G; Gavriliu, S; Vlad, C; Georgescu, I; Ghita, RA; Dughilă, C; Japie, EM; Onilă, A

    2015-01-01

    Congenital scoliosis represents a spinal malformation due to defects of formation, segmentation or mixed ones. It is characterized by a longitudinal and rotational imbalance. 54 patients were analyzed and 39 out of them were operated by various approaches with anterior and posterior instrumentations during 2000 and 2012. The impossibility to appoint some patients encountered in the daily practice into the known classifications, allowed us to purpose two categories of congenital scoliosis related to the predominance of spinal deviances in the coronal and transversal views. No certain etiology of congenital scoliosis has been identified until today. The susceptibility of some polygenic defects is obvious due to the presence of a sum of defects associated to most of the congenital scoliosis cases and the rarity of the presence of a unique defect. The diagnosis requires a thorough clinical and imaging examination in order to establish an individualized therapeutic strategy. The treatment of congenital scoliosis is different from the adolescent idiopathic one. Therapeutic criteria are significantly different. It is essential to assess the difference in growth of the concavity related to the convexity when choosing a particular procedure. The magnitude of the curve and the progressive rate are fundamental issues to the surgeon PMID:26351546

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

    PubMed

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

    2015-01-01

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

  9. Molecular Pathophysiology of Congenital Long QT Syndrome.

    PubMed

    Bohnen, M S; Peng, G; Robey, S H; Terrenoire, C; Iyer, V; Sampson, K J; Kass, R S

    2017-01-01

    Ion channels represent the molecular entities that give rise to the cardiac action potential, the fundamental cellular electrical event in the heart. The concerted function of these channels leads to normal cyclical excitation and resultant contraction of cardiac muscle. Research into cardiac ion channel regulation and mutations that underlie disease pathogenesis has greatly enhanced our knowledge of the causes and clinical management of cardiac arrhythmia. Here we review the molecular determinants, pathogenesis, and pharmacology of congenital Long QT Syndrome. We examine mechanisms of dysfunction associated with three critical cardiac currents that comprise the majority of congenital Long QT Syndrome cases: 1) IKs, the slow delayed rectifier current; 2) IKr, the rapid delayed rectifier current; and 3) INa, the voltage-dependent sodium current. Less common subtypes of congenital Long QT Syndrome affect other cardiac ionic currents that contribute to the dynamic nature of cardiac electrophysiology. Through the study of mutations that cause congenital Long QT Syndrome, the scientific community has advanced understanding of ion channel structure-function relationships, physiology, and pharmacological response to clinically employed and experimental pharmacological agents. Our understanding of congenital Long QT Syndrome continues to evolve rapidly and with great benefits: genotype-driven clinical management of the disease has improved patient care as precision medicine becomes even more a reality.

  10. Congenital basis of posterior fossa anomalies

    PubMed Central

    Cotes, Claudia; Bonfante, Eliana; Lazor, Jillian; Jadhav, Siddharth; Caldas, Maria; Swischuk, Leonard

    2015-01-01

    The classification of posterior fossa congenital anomalies has been a controversial topic. Advances in genetics and imaging have allowed a better understanding of the embryologic development of these abnormalities. A new classification schema correlates the embryologic, morphologic, and genetic bases of these anomalies in order to better distinguish and describe them. Although they provide a better understanding of the clinical aspects and genetics of these disorders, it is crucial for the radiologist to be able to diagnose the congenital posterior fossa anomalies based on their morphology, since neuroimaging is usually the initial step when these disorders are suspected. We divide the most common posterior fossa congenital anomalies into two groups: 1) hindbrain malformations, including diseases with cerebellar or vermian agenesis, aplasia or hypoplasia and cystic posterior fossa anomalies; and 2) cranial vault malformations. In addition, we will review the embryologic development of the posterior fossa and, from the perspective of embryonic development, will describe the imaging appearance of congenital posterior fossa anomalies. Knowledge of the developmental bases of these malformations facilitates detection of the morphological changes identified on imaging, allowing accurate differentiation and diagnosis of congenital posterior fossa anomalies. PMID:26246090

  11. Congenital lacrimal fistula: A major review.

    PubMed

    Chaung, Jia Quan; Sundar, Gangadhara; Ali, Mohammad Javed

    2016-08-01

    The purpose of this article is to review and summarize the etiopathogenesis, symptomatology, systemic associations, management, complications and clinical outcomes of congenital lacrimal fistulae. The authors performed an electronic database (PubMed, MEDLINE, EMBASE and Cochrane Library) search of all articles published in English on congenital lacrimal fistulae. Congenital subsets of patients from series of mixed lacrimal fistulae were included in the review. These articles were reviewed along with their relevant cross-references. Data reviewed included demographics, presentations, investigations, management, complications and outcomes. The prevalence of congenital lacrimal fistulae is reported to be around 1 in 2000 live births. They are frequently unilateral, although familial cases tend to be bilateral. Lacrimal and systemic anomalies have been associated with lacrimal fistulae. Exact etiopathogenesis is unknown but mostly believed to be an accessory out budding from the lacrimal drainage system during embryogenesis. Treatment is indicated when significant epiphora or discharge is present and is mostly achieved by various fistulectomy techniques with or without a dacryocystorhinostomy. Congenital lacrimal fistulae are a distinct clinical entity with unique features. Surgical management can be challenging and successful outcomes are usually achieved with widely accepted protocols.

  12. Diagnostic criteria for congenital biliary dilatation 2015.

    PubMed

    Hamada, Yoshinori; Ando, Hisami; Kamisawa, Terumi; Itoi, Takao; Urushihara, Naoto; Koshinaga, Tsugumichi; Saito, Takeshi; Fujii, Hideki; Morotomi, Yoshiki

    2016-06-01

    The Diagnostic Criteria for Pancreaticobiliary Maljunction 2013 were published by the Japanese Study Group on Pancreaticobiliary Maljunction (JSGPM) in 2014. The committee of JSGPM for diagnostic criteria for pancreaticobiliary maljunction has established the standard diameter of the bile duct, and a definition of dilatation of the bile duct was proposed in 2014. The committee of JSGPM prepared the diagnostic criteria for congenital biliary dilatation in 2014, and a final revised version was approved in 2015. Congenital biliary dilatation is defined as a congenital malformation involving both local dilatation of the extrahepatic bile duct, including the common bile duct, and pancreaticobiliary maljunction. However, cases associated with intrahepatic bile duct dilatation can also be included. Various kinds of pathological conditions can occur on hepatobiliary systems and pancreas by bile duct dilatation and pancreaticobiliary maljunction. For a diagnosis of congenital biliary dilatation, both abnormal dilatation of the bile duct and pancreaticobiliary maljunction must be evident by either imaging test or anatomical examination. Acquired or secondary dilatation of the bile duct by obstruction due to biliary stones or malignancy should be strictly excluded. Diagnostic criteria for congenital biliary dilatation 2015 were established from Japan representing a world first. © 2016 Japanese Society of Hepato-Biliary-Pancreatic Surgery.

  13. [Evaluation of congenital heart disease in adults].

    PubMed

    Oliver Ruiz, José María; Mateos García, Marta; Bret Zurita, Montserrat

    2003-06-01

    Improvements in the diagnosis and surgical treatment of congenital heart disease during infancy and childhood have resulted in an outstanding increase in the prevalence of these entities during adulthood. Congenital heart disease in the adult represents a new diagnostic challenge to the consultant cardiologist, unfamiliar with the anatomical and functional complexities of cardiac malformations. Assessment of adult congenital heart disease with imaging techniques can be as accurate as in children. However, these techniques cannot substitute for a detailed clinical assessment. Physical examination, electrocardiography and chest x-rays remain the three main pillars of bedside diagnosis. Transthoracic echocardiography is undoubtedly the imaging technique which provides most information, and in many situations no additional studies are needed. Nevertheless, ultrasound imaging properties in adults are not as favorable as in children, and prior surgical procedures further impair image quality. Despite recent advances in ultrasound technologies such as harmonic or contrast imaging, other diagnostic procedures are sometimes required. Fortunately, transesophageal echocardiography and magnetic resonance imaging are easily performed in the adult, and do not require anaesthetic support, in contrast to pediatric patients. These techniques, together with nuclear cardiology and cardiac catheterization, complete the second tier of diagnostic techniques for congenital heart disease. To avoid unnecessary repetition of diagnostic procedures, the attending cardiologist should choose the sequence of diagnostic techniques carefully; although the information this yields is often redundant, it is also frequently complementary. This article aims to compare the diagnostic utility of different imaging techniques in adult patients with congenital heart disease, both with and without prior surgical repair.

  14. Flying and congenital heart disease.

    PubMed

    Macartney, F J

    1984-03-01

    Only those congenital defects carrying a very low risk of complication (either before or after surgical correction) were considered. Atrial Septal Defects--(a) Ostium primum defects should be treated with caution either before or after surgical correction because of the risk of progressive conduction disorders and mitral regurgitation. (b) Ostium secundum defects could be considered for licensing (if the defect is small) or with surgical repair if the right ventricular systolic pressure is normal. (c) Sinus venosus defects--if too small to require surgical repair, licensing may be considered provided ambulatory electrocardiographic monitoring shows no evidence of arrhythmias. Surgery increases the risk of sino-atrial disease, thus licensing should be permitted only where there is no evidence of arrhythmia and adequate cardiological follow-up is possible. Ventricular Septal Defects--Subjects with very small defects not requiring surgical closure may be considered for licensing. Subjects who have had surgical closure have a risk of arrhythmias and should be carefully evaluated. Pulmonary Stenosis--If mild (either before or after surgery) may be licensed, but regular assessment perhaps including right heart catheterization is needed to demonstrate stability of the lesion. Persistent Ductus Arteriosus--Surgical closure should be recommended on diagnosis and need not affect licensing. Isolated Bicuspid Aortic Valve--Need not debar from licensing, but careful annual examination (with electrocardiogram 2-D echocardiography and fluroscopy ) is required to detect calcification, stenosis or regurgitation. Coarctation of aorta--Subjects who have had a repair before the age of 12 years may be considered for licensing after examination of other risk factors (blood pressure at rest and on exercise in particular). Those repaired over the age of 12 may be considered for restricted licensing if normotensive. These recommendations will need review in the light of further long

  15. Handicapping Conditions Associated with the Congenital Rubella Syndrome.

    ERIC Educational Resources Information Center

    Vernon, McCay; And Others

    1980-01-01

    The authors discuss the incidence of impairments diagnosed among children with congenital rubella syndrome. Approximately 73 percent are hearing impaired, at least 35 percent have congenital heart disorders, and 33 percent have visual defects. (Author)

  16. Genetics Home Reference: autosomal dominant congenital stationary night blindness

    MedlinePlus

    ... stationary night blindness autosomal dominant congenital stationary night blindness Printable PDF Open All Close All Enable Javascript ... collapse boxes. Description Autosomal dominant congenital stationary night blindness is a disorder of the retina , which is ...

  17. Genetics Home Reference: autosomal recessive congenital stationary night blindness

    MedlinePlus

    ... stationary night blindness autosomal recessive congenital stationary night blindness Printable PDF Open All Close All Enable Javascript ... collapse boxes. Description Autosomal recessive congenital stationary night blindness is a disorder of the retina , which is ...

  18. Genetics Home Reference: X-linked congenital stationary night blindness

    MedlinePlus

    ... stationary night blindness X-linked congenital stationary night blindness Printable PDF Open All Close All Enable Javascript ... collapse boxes. Description X-linked congenital stationary night blindness is a disorder of the retina , which is ...

  19. Genetics Home Reference: congenital cataracts, facial dysmorphism, and neuropathy

    MedlinePlus

    ... Health Conditions CCFDN congenital cataracts, facial dysmorphism, and neuropathy Printable PDF Open All Close All Enable Javascript ... collapse boxes. Description Congenital cataracts, facial dysmorphism, and neuropathy ( CCFDN ) is a rare disorder that affects several ...

  20. Precalcaneal congenital fibrolipomatous hamartomas: report of occurrence in half brothers.

    PubMed

    Fangman, William L; Prose, Neil S

    2004-01-01

    Precalcaneal congenital fibrolipomatous hamartomas are uncommon, congenital, nontender papules located on the medial plantar aspects of the heel. We report the occurrence of this rare disorder in two half brothers, suggesting that it may occur in a familial pattern.

  1. Genetics Home Reference: congenital bile acid synthesis defect type 2

    MedlinePlus

    ... bile acid synthesis defect type 2 congenital bile acid synthesis defect type 2 Printable PDF Open All ... view the expand/collapse boxes. Description Congenital bile acid synthesis defect type 2 is a disorder characterized ...

  2. Genetics Home Reference: congenital bile acid synthesis defect type 1

    MedlinePlus

    ... bile acid synthesis defect type 1 congenital bile acid synthesis defect type 1 Printable PDF Open All ... view the expand/collapse boxes. Description Congenital bile acid synthesis defect type 1 is a disorder characterized ...

  3. What proportion of congenital abnormalities can be prevented?

    PubMed Central

    Czeizel, A E; Intôdy, Z; Modell, B

    1993-01-01

    OBJECTIVE--To estimate the proportion of preventable congenital abnormalities in Hungary. DESIGN--Analysis of available Hungarian data-bases and of the effectiveness of primary, secondary, and tertiary preventive methods. SETTING--Databases of ad hoc epidemiological studies and of the Hungarian congenital abnormality registry. MAIN OUTCOME MEASURES--Prevalence at birth and prevalence after prevention in 73 congenital abnormality types or groups. RESULTS--Preventive methods are available for 51 (70%) of the 73 congenital abnormality types or groups evaluated. The birth prevalence of all congenital abnormalities could be reduced from 65 to 26 per 1000; thus 39 per 1000 (60%) are preventable. Without congenital dislocation of the hip, which is unusually common in Hungary, the preventable proportion of congenital abnormalities is 52%. CONCLUSION--Many congenital abnormalities can be prevented, but as they do not represent a single pathological category there is no single strategy for their prevention. Images p502-a p503-a PMID:8448464

  4. Deprivation amblyopia and congenital hereditary cataract.

    PubMed

    Mansouri, Behzad; Stacy, Rebecca C; Kruger, Joshua; Cestari, Dean M

    2013-01-01

    Amblyopia is a neurodevelopmental disorder of vision associated with decreased visual acuity, poor or absent stereopsis, and suppression of information from one eye.(1,2) Amblyopia may be caused by strabismus (strabismic amblyopia), refractive error (anisometropic amblyopia), or deprivation from obstructed vision (deprivation amblyopia). 1 In the developed world, amblyopia is the most common cause of childhood visual impairment, 3 which reduces quality of life 4 and also almost doubles the lifetime risk of legal blindness.(5, 6) Successful treatment of amblyopia greatly depends on early detection and treatment of predisposing disorders such as congenital cataract, which is the most common cause of deprivational amblyopia. Understanding the genetic causes of congenital cataract leads to more effective screening tests, early detection and treatment of infants and children who are at high risk for hereditary congenital cataract.

  5. Cytogenomic Aberrations in Congenital Cardiovascular Malformations

    PubMed Central

    Azamian, Mahshid; Lalani, Seema R.

    2016-01-01

    Congenital cardiovascular malformations are the most common birth defects, with a complex multifactorial etiology. Genetic factors play an important role, illuminated by numerous cytogenetically visible abnormalities, as well as submicroscopic genomic imbalances affecting critical genomic regions in the affected individuals. Study of rare families with Mendelian forms, as well as emerging next-generation sequencing technologies have uncovered a multitude of genes relevant for human congenital cardiac diseases. It is clear that the complex embryology of human cardiac development, with an orchestrated interplay of transcription factors, chromatin regulators, and signal transduction pathway molecules can be easily perturbed by genomic imbalances affecting dosage-sensitive regions. This review focuses on chromosomal abnormalities contributing to congenital heart diseases and underscores several genomic disorders linked to human cardiac malformations in the last few decades. PMID:27385961

  6. A twin study of congenital hemiplegia.

    PubMed

    Goodman, R; Alberman, E

    1996-01-01

    Twins were more than three times more common in a large sample of London children with congenital hemiplegia than in the general population. This over-representation of twins could largely be explained by their higher rate of preterm birth, though twin-specific risk factors, including the consequences of a co-twin's death in utero, may also have played a part. None of the 34 co-twins who survived infancy had hemiplegia or any other form of cerebral palsy. Among 155 siblings of singletons with congenital hemiplegia, no child had hemiplegia and only one had cerebral palsy. Perhaps it is chance rather then genetic liability or an adverse environment that primarily governs who does and does not become congenitally hemiplegic.

  7. Treatment of Common Congenital Hand Conditions

    PubMed Central

    Oda, Takashi; Pushman, Allison G.; Chung, Kevin C.

    2015-01-01

    Objective After reading this article, the participant should be able to: 1. Recognize the clinical features associated with five common congenital hand conditions. 2. Describe the indications and appropriate timing for various surgical procedures used to treat congenital hand anomalies. 3. Identify the pearls and pitfalls of these surgical treatments in order to avoid complications. 4. Understand the expected post-operative outcomes associated with these surgical procedures. Summary This article will provide an introduction to congenital hand differences by focusing on practical surgical strategies for treating five commonly encountered conditions including syndactyly, constriction ring syndrome, duplicated thumb, hypoplastic thumb and trigger thumb. The accompanying videos will demonstrate common and reliable surgical techniques for syndactyly release, duplicated thumb reconstruction and pollicization for hypoplastic thumb. PMID:20811188

  8. Eyelid Retraction in Isolated Unilateral Congenital Blepharoptosis.

    PubMed

    Salman, Michael S; Clark, Ian H

    2017-01-01

    Isolated unilateral congenital ptosis is encountered relatively infrequently in clinical practice. It typically consists of a unilateral droopy eyelid, weak levator palpebrae superioris muscle function, lid lag, and an absent upper lid crease with no other abnormalities on examination. We present a four-and-a-half-year-old girl with isolated and mild unilateral congenital ptosis who unexpectedly demonstrated a static upper eyelid on downgaze in conjunction with a well-formed upper lid skin crease. We attribute this uncommon sign in congenital ptosis to stiffness and presumed fibrosis of the levator muscle. Examining the function of the eyelids in all directions of gaze is important in patients with abnormalities of lid position, since additional useful information can be gleaned about the status of the levator muscle including, aberrant regeneration or fibrosis.

  9. Congenital midline sinus of the upper lip.

    PubMed

    Fok, Denise; Kua, Ee Hsiang Jonah; Por, Yong Chen

    2015-06-01

    A congenital lip sinus is a rare condition that has been reported to occur in both the upper and lower lips, either in isolation or in association with congenital deformities such as a cleft lip and palate in Van der Woude syndrome. The prevalence of lower lip sinuses has been estimated to be about 0.00001% of the white population. Upper lip sinuses are even more uncommon. To date, there have been several case reports of upper lip sinuses and fistulas, but no similar cases have been described in Singapore. We herein report a case of congenital upper lip sinus presenting as a recurring upper lip abscess and review the current literature on this condition.

  10. Surgical treatment for complications of congenital retinoschisis.

    PubMed

    You, Jiang

    2011-06-01

    This study examined the clinical features of complications of congenital retinoschisis and the clinical efficacy of vitreoretinal surgery in the treatment of these complications. The clinical efficacy of surgical treatments was retrospectively analyzed in 10 patients with congenital retinoschisis (10 eyes) complicated with rhegmatogenous retinal detachment (n=5), vitreous hemorrhage (n=2) and macula- involving schisis (n=1). All the patients suffered foveal and peripheral schisis. They were treated with scleral buckling (n=1) or vitrectomy (n=9). After the surgical treatment, the retina was reattached in patients with rhegmatogenous retinal detachment; the refractive media became transparent in those with vitreous hemorrhage; the visual acuity in 80% of patients was improved; no remarkable progression of schisis was found; no severe operative complications occurred. It was concluded that vitreoretinal surgery in the treatment of complications of congenital retinoschisis is safe and effective, and helps improve and maintain the visual function.

  11. New Genetic Insights into Congenital Heart Disease

    PubMed Central

    Ware, Stephanie M.; Jefferies, John Lynn

    2012-01-01

    There has been remarkable progress in understanding the genetic basis of cardiovascular malformations. Chromosome microarray analysis has provided a new tool to understand the genetic basis of syndromic cardiovascular malformations resulting from microdeletion or microduplication of genetic material, allowing the delineation of new syndromes. Improvements in sequencing technology have led to increasingly comprehensive testing for aortopathy, cardiomyopathy, single gene syndromic disorders, and Mendelian-inherited congenital heart disease. Understanding the genetic etiology for these disorders has improved their clinical recognition and management and led to new guidelines for treatment and family-based diagnosis and surveillance. These new discoveries have also expanded our understanding of the contribution of genetic variation, susceptibility alleles, and epigenetics to isolated congenital heart disease. This review summarizes the current understanding of the genetic basis of syndromic and non-syndromic congenital heart disease and highlights new diagnostic and management recommendations. PMID:22822471

  12. Congenital narrowing of the cervical spinal canal.

    PubMed Central

    Kessler, J T

    1975-01-01

    The clinical and laboratory findings in six patients with congenital narrowing of the cervical spinal canal and neurological symptoms are described. A variable age of onset and an entirely male occurrence were found. Signs and symptoms of spinal cord dysfunction predominated in all but one patient. Symptoms were produced in five patients by increased physical activity alone. Congenital narrowing of the cervical spinal canal may result in cord compression without a history of injury and occasionally without evidence of significant bony degenerative changes. The clinical features may be distinguishable from those found in cervical spondylosis without congenital narrowing. Intermittent claudication of the cervical spinal cord appears to be an important feature of this syndrome. Surgery improved four out of five people. PMID:1219087

  13. [Neonatal cutaneous hematopoiesis disclosing congenital rubella].

    PubMed

    Penouil, M H; Bressieux, J M; Mehaut, S; Hopfner, C

    1996-01-01

    Congenital rubella, which should disappear with widespread vaccination and mandatory obstetrical care, can occur as a purpuric eruption in the newborn. We report a case of blueberry muffin baby. An infant delivered after an "uneventful" pregnancy presented a generalized "purpuric" eruption and had axial hypotonia. Histology of a biopsy showed evidence of cutaneous erythropoiesis. The complete workup led to the diagnosis of congenital rubella. Cutaneous erythropoiesis is a well defined clinical and histological entity. There are several causes including infection and hematology disorders. Metastasis of a neuroblastoma, which must be eliminated by early biopsy, is the main differential diagnosis. Blueberry muffin rash is never idiopathic. The prognosis depends on the cause. Physicians should remember that congenital rubella has not yet been completely eradicated in France.

  14. Surgical Treatment of Congenital Mitral Valve Dysplasia.

    PubMed

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

    2016-05-01

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

  15. Eyelid Retraction in Isolated Unilateral Congenital Blepharoptosis

    PubMed Central

    Salman, Michael S.; Clark, Ian H.

    2017-01-01

    Isolated unilateral congenital ptosis is encountered relatively infrequently in clinical practice. It typically consists of a unilateral droopy eyelid, weak levator palpebrae superioris muscle function, lid lag, and an absent upper lid crease with no other abnormalities on examination. We present a four-and-a-half-year-old girl with isolated and mild unilateral congenital ptosis who unexpectedly demonstrated a static upper eyelid on downgaze in conjunction with a well-formed upper lid skin crease. We attribute this uncommon sign in congenital ptosis to stiffness and presumed fibrosis of the levator muscle. Examining the function of the eyelids in all directions of gaze is important in patients with abnormalities of lid position, since additional useful information can be gleaned about the status of the levator muscle including, aberrant regeneration or fibrosis. PMID:28529498

  16. Congenital malformations of the brain and spine.

    PubMed

    Shankar, Prashant; Zamora, Carlos; Castillo, Mauricio

    2016-01-01

    In this chapter we briefly address the most common congenital brain and spinal anomalies as well as their most salient imaging, especially magnetic resonance, findings. Some of them, such as Chiari II, and open spinal defects, have become relatively rare due to their detection in utero and repair of the spinal malformation. Regardless of the type of brain anomaly, the most common clinical symptoms are mental retardation, hydrocephalus, and seizure; the latter two may need to be surgically and medically addressed. The most commonly found spinal congenital anomalies include the filum terminale lipoma which is generally asymptomatic and incidental and the caudal regression syndrome for which no primary treatment exists. Any spinal congenital anomaly may present in adulthood as a consequence of spinal cord tethering and/or development of syringomyelia.

  17. Pulmonary Hypertension in Congenital Heart Disease: Beyond Eisenmenger Syndrome.

    PubMed

    Krieger, Eric V; Leary, Peter J; Opotowsky, Alexander R

    2015-11-01

    Patients with adult congenital heart disease have an increased risk of developing pulmonary hypertension. There are several mechanisms of pulmonary hypertension in patients with adult congenital heart disease, and understanding them requires a systematic approach to define the patient's hemodynamics and physiology. This article reviews the updated classification of pulmonary hypertension in patients with adult congenital heart disease with a focus on pathophysiology, diagnostics, and the evaluation of pulmonary hypertension in special adult congenital heart disease populations.

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

    PubMed

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

    2013-09-01

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

  19. A comparison of the therapeutic effectiveness of and preference for postural drainage and percussion, intrapulmonary percussive ventilation, and high-frequency chest wall compression in hospitalized cystic fibrosis patients.

    PubMed

    Varekojis, Sarah M; Douce, F Herbert; Flucke, Robert L; Filbrun, David A; Tice, Jill S; McCoy, Karen S; Castile, Robert G

    2003-01-01

    Cystic fibrosis (CF) patients have abnormally viscid bronchial secretions that cause airway obstruction, inflammation, and infection that leads to lung damage. To enhance airway clearance and reduce airway obstruction, daily bronchopulmonary hygiene therapy is considered essential. Compare the effectiveness of and patient preferences regarding 3 airway clearance methods: postural drainage and percussion (PD&P), intrapulmonary percussive ventilation (IPV), and high-frequency chest wall compression (HFCWC). The participants were hospitalized CF patients >or= 12 years old. Effectiveness was evaluated by measuring the wet and dry weights of sputum obtained with each method. In random order, each patient received 2 consecutive days of each therapy, delivered 3 times daily for 30 minutes. Sputum was collected during and for 15 minutes after each treatment, weighed wet, then dried and weighed again. Participants rated their preferences using a Likert-type scale. Mean weights and preferences were compared using analysis of variance with repeated measures. Patient preferences were compared using Freidman's test. Twenty-four patients were studied. The mean +/- SD wet sputum weights were 5.53 +/- 5.69 g with PD&P, 6.84 +/- 5.41 g with IPV, and 4.77 +/- 3.29 g with HFCWC. The mean wet sputum weights differed significantly (p = 0.035). Wet sputum weights from IPV were significantly greater than those from HFCWC (p < 0.05). The mean dry sputum weights were not significantly different. With regard to overall preference and to the subcomponents of preference, none of the 3 methods was preferred over the others. HFCWC and IPV are at least as effective as vigorous, professionally administered PD&P for hospitalized CF patients, and the 3 modalities were equally acceptable to them. A hospitalized CF patient should try each therapy and choose his or her preferred modality.

  20. Kinetics of changes in lymphocyte sub-populations in mouse lungs after intrapulmonary infection with M. bovis (Bacillus Calmette-Guerin) and identity of cells responsible for IFNγresponses

    PubMed Central

    SAXENA, R K; WEISSMAN, D; SAXENA, Q B; SIMPSON, J; LEWIS, D M

    2002-01-01

    Gamma interferon (IFNγ) plays a key role in host defense against pulmonary mycobacterial infections. A variety of lymphocyte subsets may participate in producing pulmonary IFNγresponses, but their relative contributions after mycobacterial infection have not been clearly elucidated. To address this question, C57Bl/6 female mice were infected by intrapulmonary instillation of 2·5 × 104 BCG (Mycobacterium bovis Bacillus Calmette-Guerin). Lymphocyte populations in lung interstitium were examined at different time points after the infection. BCG load in lungs peaked between 4 and 6 weeks post-infection and declined to very low levels by the 12th week of infection. Recovery of lung interstitial lymphocytes doubled by 4–6 weeks after infection and declined thereafter. Flow cytometric analysis of the lung-derived lymphocytes revealed that about 5% of the these cells made IFNγin control mice, and this baseline IFNγproduction involved T (CD3+NK1.1−), NK (CD3−NK1.1+) and NKT (CD3+NK1.1+) cells. As the BCG lung infection peaked, the total number of CD3+ T cells in the lungs increased threefold at 5–6 weeks post-infection. There was a marked increase (sixfold) in the number of T cells secreting IFNγ5–6 weeks post-infection. Some increase was also noted in the NKT cells making IFNγ, but the numbers of NK cells making IFNγin BCG-infected lungs remained unaltered. Our results suggest that whereas NK and NKT cells contribute to baseline IFNγsecretion in control lungs, expansion in the IFNγ-producing T-cell population was essentially responsible for the augmented response seen in lungs of BCG-infected mice. PMID:12067293

  1. Air pollution and congenital heart defects.

    PubMed

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

    2013-07-01

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

  2. Epidemiology of congenital heart disease in Brazil

    PubMed Central

    Pinto Júnior, Valdester Cavalcante; Branco, Klébia Magalhães P. Castello; Cavalcante, Rodrigo Cardoso; Carvalho Junior, Waldemiro; Lima, José Rubens Costa; de Freitas, Sílvia Maria; Fraga, Maria Nazaré de Oliveira; de Souza, Nayana Maria Gomes

    2015-01-01

    Introduction Congenital heart disease is an abnormality in the structure or cardiocirculatory function, occurring from birth, even if diagnosed later. It can result in intrauterine death in childhood or in adulthood. Accounted for 6% of infant deaths in Brazil in 2007. Objective To estimate underreporting in the prevalence of congenital heart disease in Brazil and its subtypes. Methods The calculations of prevalence were performed by applying coefficients, giving them function rates for calculations of health problems. The study makes an approach between the literature and the governmental registries. It was adopted an estimate of 9: 1000 births and prevalence rates for subtypes applied to births of 2010. Estimates of births with congenital heart disease were compared with the reports to the Ministry of Health and were studied by descriptive methods with the use of rates and coefficients represented in tables. Results The incidence in Brazil is 25,757 new cases/year, distributed in: North 2,758; Northeast 7,570; Southeast 10,112; South 3,329; and Midwest 1,987. In 2010, were reported to System of Live Birth Information of Ministry of Health 1,377 cases of babies with congenital heart disease, representing 5.3% of the estimated for Brazil. In the same period, the most common subtypes were: ventricular septal defect (7,498); atrial septal defect (4,693); persistent ductus arteriosus (2,490); pulmonary stenosis (1,431); tetralogy of Fallot (973); coarctation of the aorta (973); transposition of the great arteries (887); and aortic stenosis 630. The prevalence of congenital heart disease, for the year of 2009, was 675,495 children and adolescents and 552,092 adults. Conclusion In Brazil, there is underreporting in the prevalence of congenital heart disease, signaling the need for adjustments in the methodology of registration. PMID:26107454

  3. Congenital chylothorax in newborn with trisomy 21.

    PubMed

    Lomauri, Kh

    2014-11-01

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

  4. Demographic features of subjects with congenital glaucoma

    PubMed Central

    Tamçelik, Nevbahar; Atalay, Eray; Bolukbasi, Selim; Çapar, Olgu; Ozkok, Ahmet

    2014-01-01

    Context: Congenital glaucoma is a potentially blinding ocular disease of the childhood. Identification of the possible associated risk factors and may be helpful for prevention or early detection of this public health problem. Aims: To demonstrate the demographic features of congenital glaucoma subjects. Setting and Design: The charts of congenital glaucoma patients referred to Tamcelik Glaucoma Center were retrospectively reviewed through the dates of 2000 and 2013. Materials and Methods: Analyzed data included diagnosis, age at first presentation, symptoms at first presentation, laterality of the disease, sex, presence of consanguinity, family history of congenital glaucoma, maturity of the fetus at delivery, and maternal age at conception. Statistical Analysis Used: Statistical Package for Social Sciences (SPSS) version 19.0 by IBM (SPSS Inc, Chicago, Illinois, USA) was used to compare the mean of continuous variables with Student's t-test and analysis of variance (ANOVA) and χ2 test was used to test differences in proportions of categorical variables. Results: The data of 600 eyes of 311 patients were analyzed. The distribution of primary and secondary congenital glaucoma among the patients were 63.3% (n = 197) and 36.7% (n = 114), respectively. Of the 311 patients, 57.2% (n = 178) were male and 42.8% (n = 133) were female. The overall frequency of bilateral disease was 92.3% (n = 287). Overall rate of consanguinity and positive family history was 45.3% (n = 141) and 21.2% (n = 66), respectively. Conclusions: Bilateral disease in this study was more common than previously reported studies. Positive family history was more frequent in primary congenital glaucoma although not statistically significant. PMID:24881602

  5. Symptoms of Autism among Children with Congenital Deafblindness

    ERIC Educational Resources Information Center

    Dammeyer, Jesper

    2014-01-01

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

  6. [Congenital lobar hyperinflation: conservative management as an alternative therapy].

    PubMed

    Hermoso Torregrosa, C; Moreno Medinilla, E; Pérez Ruiz, E; Caro Aguilera, P; Pérez Frías, F J

    2014-07-01

    Congenital lobar emphysema used to be treated surgically. Congenital lobar hyperinflation is the currently recommended term, as it involves pathologically healthy lung tissue, which is why conservative management may be an option. Four cases of diagnosed congenital lobar hyperinflation are presented in which conservative treatment was chosen due to their clinical stability. Their outcome has been satisfactory with progressively normal radiology.

  7. Symptoms of Autism among Children with Congenital Deafblindness

    ERIC Educational Resources Information Center

    Dammeyer, Jesper

    2014-01-01

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

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

    PubMed

    Raman, Subha; Takhtani, Deepak; Wallace, E Christine

    2009-01-01

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

  9. NEW BORN SCREENING IN PREVENTING CONGENITAL HYPOTHYROIDISM.

    PubMed

    Ali, Mazahir; Zia, Aisha; Siddiqui, Saad Ebrahim

    2015-01-01

    Congenital Hypothyroidism is one of the most common preventable causes of mental retardation which is highly prevalent in our society due to lack of a national neonatal screening program, lack of education of the parents, increased consanguinity, and lack of suspicion from doctor's leads to delayed diagnosis and an increased incidence of congenital hypothyroidism in our society. This Menace can be easily tackled with a mass neonatal screening program and effective legislation which would make sure that serious efforts are being made to eradicate this preventable disease from Pakistan.

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

    PubMed

    Kondo, K

    2000-07-01

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

  11. Congenital color blindness in young Turkish men.

    PubMed

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

    2005-04-01

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

  12. Giant congenital diaphragmatic hernia in an adult

    PubMed Central

    2014-01-01

    Bochdalek hernia is the most common type of congenital diaphragmatic hernia. It appears frequently in infants but rarely in adults. We present the case of a 50-year-old female han patient with tremendous left-sided congenital posterolateral diaphragmatic hernia (Bochdalek hernia) who also has a pair of supernumerary breasts and pulmonary hypoplasia of the lower-left lobe. The patient had an experience of misdiagnosis and she was treated for bronchitis for one year until being admitted to our hospital. This case study emphasizes the rare presentation of Bochdalek hernia in adults and the necessity of high clinical attention to similar cases. PMID:24512974

  13. Acquired Congenital Malalignment of the Great Toenails

    PubMed Central

    Decker, Ashley; Scher, Richard K.; Avarbock, Andrew

    2016-01-01

    Congenital malalignment is the lateral deviation of the nail plate along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges caused by repeated microtrauma to the nail. Common complications include onychomycosis, Pseudomonas infection and acute or chronic paronychia. Treatment options range from conservative management to surgical options including realignment and nail matrixectomy. Congenital malalignment usually presents in infancy or childhood, but we present two cases of acquired malalignment occurring in the teenage years. PMID:27171597

  14. [A neonatal case of congenital myotonic dystrophy].

    PubMed

    Ghizzi, C; Cavalli, C; Benedetti, M; Bolognani, M; Biban, P

    2000-01-01

    Congenital myotonic dystrophy is a rare autosomal disease, caused by an increased number of cytosine-thymine-guanine (CTG) trinucleotide on chromosome 19q. In the neonatal period the most peculiar clinical features are arthrogryposis, hypotonia, facial diplegia, respiratory and feeding difficulties. Clinical and electrical myotonic discharges are difficult to elicit in the newborn. We report a case of congenital myotonic dystrophy in a female newly born presenting with hypotonia, diaphragmatic paralysis, facial diplegia, and contractures of hips, knees and ankles. The diagnosis was confirmed by genetical study on lymphocyte DNA.

  15. Prevention of Maternal and Congenital Cytomegalovirus Infection

    PubMed Central

    Johnson, Julie; Anderson, Brenna; Pass, Robert F.

    2012-01-01

    Congenital cytomegalovirus (CMV) infection is an important cause of hearing impairment, mental retardation and cerebral palsy. Principal sources of infection during pregnancy are young children and intimate contacts. Prevention of maternal and congenital CMV infection depends on counseling women regarding the sources of infection and hygienic measures that might prevent infection. There is currently insufficient evidence to support use of antiviral treatment or passive immunization for post-exposure prophylaxis of pregnant women or as a maternal treatment aimed at preventing fetal infection. Vaccines for CMV are under development but it will be a number of years before one is licensed. PMID:22510635

  16. Congenital Absence of the Internal Carotid Artery

    SciTech Connect

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

    1999-01-15

    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.

  17. [Radionuclide studies of congenital kidney abnormalities].

    PubMed

    Vlakhov, N

    1984-06-01

    Using the potentialities of isotope nephrograms as a screening test a total of 4746 patients suspected of renal abnormalities were examined. The author established pathological deviations in 561 cases (11.8%). During further verification using scintigraphy unsuspected congenital renal abnormalities (aplasia, hypoplasia, dystopia, double kidney, horseshoe kidney, solitary cyst and polycystic renal disease) were found in 46 patients (8.2%). The diagnosis was confirmed at subsequent venous x-ray urography. A conclusion has been made as to the role of comprehensive nephrographic-scintigraphic examination in the diagnosis of congenital renal abnormalities.

  18. New approaches to managing congenital diaphragmatic hernia.

    PubMed

    Ivascu, Felicia A; Hirschl, Ronald B

    2004-06-01

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

  19. Congenital dislocation of the patella - clinical case.

    PubMed

    Miguel Sá, Pedro; Raposo, Filipa; Santos Carvalho, Manuel; Alegrete, Nuno; Coutinho, Jorge; Costa, Gilberto

    2016-01-01

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

  20. [Cases of congenital eye malformations in children].

    PubMed

    Modrzejewska, Monika; Lachowicz, Ewelina; Karczewicz, Danuta

    2011-01-01

    The aim of this work was to present a clinical picture of congenital defects in the anterior and posterior segment of the eye and coexisting systemic developmental anomalies in a group of children during the infantile period. We performed a retrospective analysis in a group of 1507 infants seen at our outpatient ophthalmology clinic in 2006-2010. Attention was focused on case histories of nine children (0.6%) with congenital defects of the eye. A routine ophthalmologic examination was done and photographs of the anterior and posterior segment of the eye were archived with the Ret - Cam II apparatus. Maternal risk factors during pregnancy and the perinatal period were analyzed, as well as genetic, familial, infectious, traumatic, metabolic, and toxic factors, and drugs which could have contributed to the pathology of the organ of vision. Additionally, congenital polydysplasia was confirmed using ultrasonography, radiography, and imaging techniques (USG, X-ray, MRI). Congenital anomalies of the anterior and posterior segment of the eye were identified in the study group. Abnomalities of the anterior segment of the eye in four infants were in the form of congenital corneal anomalies (keratopathy, microcornea, sclerocornea, congenital mesenchymal dysgenesis), coloboma of the iris, and aniridia. Additionally, ectopic pupil, congenital cataract, aplasia of the lacrimal point, and palpebral coloboma were observed. Developmental anomalies of the posterior segment of the eye in the form of persistent hyperplastic primary vitreous body or primary fetal vasculature syndrome (PHVB or PFVS), choroid coloboma, coloboma of the optic nerve, and optic disc fovea were recognized in eight children. Anomalies of the anterior and posterior segment of the eye were observed in three children and were associated with microphthalmia, nystagmus, and strabismus. Moreover, systemic anomalies coexisting with ophthalmologic defects were confirmed in 6 children. They were seen in the heart

  1. Giant congenital diverticulum of the right atrium.

    PubMed

    Tomar, Munesh; Radhakrishnan, Sitaraman; Iyer, Krishna Subramony; Shrivastava, Savitri

    2008-01-01

    Congenital diverticulum of heart is a rare entity, which may arise from the atria, atrial appendages, coronary sinus or the ventricles. A 3-year-old child presented with history of early fatigability for 6 months and recent upper respiratory tract infection. Chest X-ray and echocardiogram revealed marked right atrial enlargement. At surgery, a right atrial diverticulum was excised under cardiopulmonary bypass. Pathology revealed thickened endocardium with edema and myocardial fiber hypertrophy. Our experience with this rare congenital disease is presented along with a review of the literature.

  2. Congenital malformations of the temporal bone.

    PubMed

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

    2011-08-01

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

  3. A peculiar case of facial congenital nevus.

    PubMed

    Scaglioni, Mario F; Bauer, M T; Giuseppe, Alberto Di

    2014-08-01

    Reconstruction of congenital nevi is difficult and challenging, but becomes even more so when they occur on the face due to functional and aesthetic reasons. Traditionally, these lesions have been treated with tissue expansion, sequential resection, and local flap closure with or without skin grafts. Here, we present a case reconstructing a large facial defect involving the entire cheek facial subunit following excision of a giant congenital nevus with a free anterolateral thigh flap. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  4. Congenital myasthenic syndromes and transient myasthenia gravis.

    PubMed

    Gajda, Anna; Szabó, Hajnalka; Gergev, Gyurgyinka; Karcagi, Veronika; Szabó, Nóra; Endreffy, Emoke; Túri, Sándor; Sztriha, László

    2013-05-30

    Hypotonia in the neonatal period and early infancy is a common clinical finding. It can be caused by various heterogeneous disorders of different origin which might lead to diagnostic difficulties. Disorders of the neuromuscular junction, such as congenital myasthenic syndromes and neonatal transient myasthenia gravis are among the aetiologies. We report on a case of congenital myasthenia caused by mutation in the long cytoplasmic loop of the epsilon subunit of the acetylcholine receptor and a neonate of a myasthenic mother diagnosed with transient myasthenia gravis.

  5. Congenital agminated melanocytic nevus - case report*

    PubMed Central

    da Rocha, Camila Roos Mariano; Grazziotin, Thaís Corsetti; Rey, Maria Carolina Widholzer; Luzzatto, Laura; Bonamigo, Renan Rangel

    2013-01-01

    Agminated nevus is a cluster group of melanocytic nevi confined to a localized area of the body. There are many pigmented lesions described in the literature as agminated, such as blue nevi, multiple lentigines and Spitz nevi, but only a few cases of congenital agminated melanocytic nevi have been described. We report a case of a male child who presented with congenital agminated nevi, emphasizing the importance of physical examination, dermoscopy, histopathological evaluation, differential diagnosis and follow up to rule out the possibility of dysplastic or malignant changes. PMID:24346910

  6. The incidence of congenitally absent foot pulses.

    PubMed Central

    Robertson, G. S.; Ristic, C. D.; Bullen, B. R.

    1990-01-01

    The pedal pulses of 547 young healthy subjects were examined using digital palpation and a Doppler probe to determine the incidence of congenitally absent foot pulses. The posterior tibial (PT) pulse was absent in only one subject (0.18%), while the dorsalis pedis (DP) pulse was bilaterally absent in nine subjects (1.8%) and unilaterally absent in a further six subjects. The low incidence of congenital absence makes the clinical finding of an absent pedal pulse in later life a more significant marker of peripheral vascular disease than current surgical texts would have us believe. PMID:2185683

  7. Recurrent congenital fibrosarcoma with heart metastases.

    PubMed

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

    2012-07-01

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

  8. Bone lesions in early congenital syphilis.

    PubMed

    Rosen, E U; Solomon, A

    1976-01-31

    A radiological study of bone changes in 112 children with congenital syphilis was undertaken. A similar number of normal children acted as a control group. Radiological examination of 5 syphilitic children showed that their bones were normal. Combined metaphyseal and periosteal lesions were the commonest bone disorders seen and are thus the most convincing radiological evidence of congenital syphilis. Transverse metaphyseal lucencies occur early in the disease, and with Wimburger's sign they are the prime evidence of pathology in syphilitic bone. Other radiographic changes are probably owing to minimal trauma in fragile disorganized bone. The occurrence of periosteal lesions alone has also been evaluated.

  9. Leber's congenital amaurosis associated with hyperthreoninemia.

    PubMed

    Hayasaka, S; Hara, S; Mizuno, K; Narisawa, K; Tada, K

    1986-04-15

    Two siblings had Leber's congenital amaurosis. The girl (Patient 1) showed blindness shortly after birth, absent pupillary light reflex, and multiple round, white spots in both fundi. Her serum threonine level was increased (2.0 to 5.3 mg/dl; normal, 0.78 to 1.82 mg/dl). She died of massive pericardial effusion four months after birth. Her brother (Patient 2) was nearly blind shortly after birth. He had a poor pupillary light reflex and a nearly extinguished electroretinographic response. He also had hyperthreoninemia, hyperthreoninuria, hepatomegaly, and mental and physical retardation. We suspect a close relationship between hyperthreoninemia and Leber's congenital amaurosis in these siblings.

  10. Leber's congenital amaurosis associated with mitochondrial dysfunction.

    PubMed

    Castro-Gago, M; Pintos-Martínez, E; Beiras-Iglesias, A; Maroto, S; Campos, Y; Arenas, J; Eirís-Puñal, J

    1996-03-01

    We report the case histories of two 6-month-old girls, both with young, nonconsanguineous parents, referred to us for suspected blindness. In both cases, Leber's congenital amaurosis was diagnosed. Due to persistently high lactic acid levels in blood, muscle biopsies were taken. Analysis of biopsies revealed that both patients had low levels of complex IV of the mitochondrial respiratory chain; one patient additionally had low levels of complex III. Microscopic and ultrastructural alterations of muscle, typically observed in mitochondrial disorders, were observed only in the second patient. These observations raise the possibility that at least some cases of Leber's congenital amaurosis may be due to alterations in the mitochondrial respiratory chain.

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

    PubMed

    Kolb, A; Windhager, R; Chiari, C

    2015-11-01

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

  12. Congenital glaucoma in cutis marmorata teleangiectatica congenita.

    PubMed

    Mayatepek, E; Krastel, H; Völcker, H E; Pfau, B; Almasan, K

    1991-01-01

    A case of congenital glaucoma in cutis marmorata teleangiectatica congenita (CMTC, van Lohuizen syndrome) is described. The cutaneous anomaly and heterochromia iridium were noticed at birth. Brown discoloration of one iris was due to iris anterior layer dysplasia, resulting in unilateral glaucoma. Two trabeculotomies were performed until persistent normalization of intraocular pressure could be achieved. The possibility of a genetic basis and hereditary condition of CMTC and its association with congenital glaucoma is discussed. Patients with CMTC should regularly undergo ophthalmological follow-up to rule out development of glaucoma.

  13. Radiographic findings in congenital lead poisoning

    SciTech Connect

    Pearl, M.; Boxt, L.M.

    1980-07-01

    Because lead crosses the placenta throughout pregnancy, the fetus is at risk for lead poisoning. A full term, asymptomatic child was born with congenital lead poisoning secondary to maternal pica. Radiographic findings of a dense cranial vault, lead lines, and delayed skeletal and deciduous dental development were noted at birth. After chelation therapy, when the patient was seven months old, radiographs revealed normal skeletal maturation. Tooth eruption did not occur until 15 months of age. Newborn infants with these radiographic findings should be screened for subclinical, congenital lead poisoning.

  14. Outcome of congenital adrenal hyperplasia.

    PubMed

    Kuhnle, U; Bullinger, M

    1997-09-01

    In congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, affected girls are born with ambiguous genitalia due to increased secretion of androgens in utero by the defective adrenal gland. Even though it is generally accepted that there are differences between male and female brain development, determining factors have been difficult to identify. Girls with CAH have frequently been studied to evaluate the impact of prenatal androgen exposure on psychological, psychosocial, and psychosexual development, and impairments in various areas have been identified. However, there is no comprehensive study available regarding the outcome of this chronic disorder in adult life. We studied the quality of life in women with CAH, with particular emphasis on how they cope with genital malformations, genital operations, and chronic disease as well as lifelong medication. The patients filled out questionnaires covering their physical state, psychological well-being, social relationships, and functional capacity, as well as questionnaires on psychosexual identification and psychosocial integration. The results were evaluated using a computerized statistical program for social studies. Out of a total of 94 patients above 18 years of age, 45 agreed to participate and were compared to 46 healthy, age-matched controls. Age at diagnosis was 2. 31 +/- 1.55 years and 38% suffered from the simple-virilizing, 45% from the salt-wasting, and 17.0% from the late-onset form of CAH. About one-third of patients had Prader stage 3 or 4 genital virilization. While the overall quality of life did not differ significantly, CAH patients were more often single (47.8% vs. 66.7%) and fewer of them had children (22.2% vs. 38.6%) compared to controls. Significant impairments were found in regard to body image and attitudes toward sexuality, but there was no increased homosexual preference. The women were successful in adjusting to illness and receiving social support. It is speculated that

  15. Unsuspected exposure to asbestos and bronchogenic carcinoma.

    PubMed Central

    Martischnig, K M; Newell, D J; Barnsley, W C; Cowan, W K; Feinmann, E L; Oliver, E

    1977-01-01

    Two hundred and fifty men admitted to a thoracic surgical centre and matched controls were questioned in detail about their occupations after leaving school and their smoking habits. Of 201 men with confirmed bronchial carcinoma 58 gave a history of occupational exposure to asbestos, whereas only 29 out of 201 men matched for age and residential area who were admitted with other diseases gave such a history. This difference was statistically highly significant. The usual association of bronchial carcinoma with heavy smoking was observed, but asbestos exposure increased the risk of carcinoma whatever the level of smoking. These results are consistent with the hypothesis that asbestos exposure and the level of smoking act independently in causing bronchial carcinoma. The patients with carcinoma who had been exposed to asbestos presented on average three years earlier than those who had not been exposed. Asbestos regulations have eliminated the risk of exposure to workers in scheduled industries, so asbestos-induced diseases will probably be increasingly found among the many workers who have had incidental exposure to asbestos. It is therefore important to take a full occupational history. PMID:856382

  16. DNA methylation abnormalities in congenital heart disease.

    PubMed

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

    2015-01-01

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

  17. Congenital hepatic cyst with intracystic hemorrhage

    PubMed Central

    Ni, Qingqiang; Zhang, Minfeng; Yang, Cheng; Cai, Wenchang; Zhao, Qian; Shen, Weifeng; Yang, Jiamei

    2016-01-01

    Abstract Introduction: Fast-growing congenital hepatic cysts with intracystic hemorrhage are rare in clinical practice. Additionally, the clinical manifestations of and laboratory and imaging findings for this condition are often nonspecific and are particularly difficult to differentiate from those of hepatobiliary cystadenoma and cystadenocarcinoma, thus posing great challenges for diagnosis and treatment. The 2 case reports presented here aim to analyze the diagnosis and treatment of 2 rare cases of congenital hepatic cysts with intracystic hemorrhage in the Chinese Han population to provide an important reference for the clinical diagnosis and treatment of this condition. Diagnoses: These 2 case reports present 2 rare cases of congenital hepatic cysts with intracystic hemorrhage. Case 1 involved a 31-year-old patient with a very large, fast-growing hepatic cyst with intracystic hemorrhage and elevated carbohydrate antigen 199. Case 2 involved a patient with intense, paroxysmal right upper abdominal pain; computed tomography suggested a hepatic cyst with intracystic hemorrhage and possibly hepatobiliary cystadenoma. Outcomes: Both patients underwent liver resection. Postoperative follow-up showed that for both patients, the symptoms improved, the laboratory findings returned to normal levels, and the surgical outcomes were satisfactory. Conclusion: Liver resection is an ideal treatment for patients with congenital hepatic cysts with intracystic hemorrhage, and especially those with fast-growing, symptomatic hepatic cysts or hepatic cysts that are difficult to differentiate from hepatobiliary cystadenoma and cystadenocarcinoma. PMID:27759646

  18. [Congenital megaprepuce: diagnosis and terapeutic management].

    PubMed

    Delgado Oliva, F J; Domínguez Hinarejos, C; Serrano Durbá, S; Estornell Moragues, F; Martínez Verduch, M; García Ibarra, F

    2006-01-01

    [corrected] To analize the clinical presentation, diagnosis and surgical management of congenital megaprepuce (CM). We have made a retrospective study of four cases of CM diagnosed and treated in our centre between october 1997 and april 2005. We studied the diagnosis and surgical treatment. CM is an infrecuent condition that can be confused with others pathologies. It's necessary to diagnose and treat it correctly.

  19. Congenital tuberculosis: presentation of a rare case.

    PubMed

    Şen, Velat; Selimoğlu Şen, Hadice; Aktar, Fesih; Uluca, Ünal; Karabel, Müsemma; Fuat Gürkan, Mehmet

    2015-04-01

    Congenital tuberculosis is a rare disease with a high mortality rate. Congenital tuberculosis is considered the result of mother-to-child transmission from the placenta to the fetus, through the ingestion of the amniotic fluid, or via transplacental transmission through the umbilical vein. Given the non-specific clinical signs of tuberculosis, it is usually difficult to diagnose it. The case of a 48-day-old male infant hospitalized due to weight loss, fever, cough, hemoptysis, and respiratory distress for the past 20 days, is presented. In this period, he had received broad spectrum antibiotics but with no improvement. A chest x-ray showed the presence of consolidation and a cavitary lesion in the upper and middle left lung fields. Mycobacterium tuberculosis was detected by polymerase chain reaction in a bronchoalveolar lavage specimen. Congenital tuberculosis was diagnosed based on this finding; hence, a tuberculostatic regimen was started accordingly. The patient died 13 days after treatment initiation. Congenital tuberculosis should be considered in infants with weight loss, fever, cough, hemoptysis and respiratory distress.

  20. Congenitally Blind Counselor, Adventitiously Blind Client.

    ERIC Educational Resources Information Center

    Roberts, A. H.

    1994-01-01

    A counselor blind from birth describes personal difficulties in fully understanding the experience of clients who are adventitiously blind. Congenitally blind counselors are urged to recognize that adaptive methods cannot compensate for the panoramic view of the environment provided by vision and that recently blinded individuals need to deal with…

  1. Genetics of Nonsyndromic Congenital Hearing Loss

    PubMed Central

    Egilmez, Oguz Kadir; Kalcioglu, M. Tayyar

    2016-01-01

    Congenital hearing impairment affects nearly 1 in every 1000 live births and is the most frequent birth defect in developed societies. Hereditary types of hearing loss account for more than 50% of all congenital sensorineural hearing loss cases and are caused by genetic mutations. HL can be either nonsyndromic, which is restricted to the inner ear, or syndromic, a part of multiple anomalies affecting the body. Nonsyndromic HL can be categorised by mode of inheritance, such as autosomal dominant (called DFNA), autosomal recessive (DFNB), mitochondrial, and X-linked (DFN). To date, 125 deafness loci have been reported in the literature: 58 DFNA loci, 63 DFNB loci, and 4 X-linked loci. Mutations in genes that control the adhesion of hair cells, intracellular transport, neurotransmitter release, ionic hemeostasis, and cytoskeleton of hair cells can lead to malfunctions of the cochlea and inner ear. In recent years, with the increase in studies about genes involved in congenital hearing loss, genetic counselling and treatment options have emerged and increased in availability. This paper presents an overview of the currently known genes associated with nonsyndromic congenital hearing loss and mutations in the inner ear. PMID:26989561

  2. Subclinical Congenital Cytomegalovirus Infection and Hearing Impairment

    ERIC Educational Resources Information Center

    Dahle, Arthur J.; And Others

    1974-01-01

    When the hearing sensitivity of children with subclinical congenital cytomegalovirus infection was evaluated and compared with that of a group of matched control subjects, nine of the 18 infected subjects were found to have some hearing loss, ranging from slight high-frequency impairments to a severe-to-profound unilateral loss. (MYS)

  3. Burnei-Gavriliu classification of congenital scoliosis.

    PubMed

    Ghiță, R A; Georgescu, I; Muntean, M L; Hamei, Ș; Japie, E M; Dughilă, C; Țiripa, I

    2015-01-01

    The existent classifications of congenital scoliosis cannot contain all the cases encountered in the medical practice taking into account the complexity of the spine deformity in this pathology. The paper represents a retrospective study that analyses a new classification of congenital scoliosis in comparison with the existing classification. This study analyses 56 cases over a period of 14 years (2000-2013), based on the spine dominant deviation: longitudinal or rotational imbalance. This new classification contains not only the formation, segmentation and mixed defects, but also the formation failure with or without fusion failure of the ossification centers (wedged vertebra, hemivertebral body, segmented, hemisegmented, unsegmented hemivertebra, which may be successive, intermittent, alternant compensated or alternant decompensated). It also contains the congenital scoliosis with a rotational imbalance by spinal traction, spinal pushing or by a mixed effect. In comparison with the other classifications in literature: Winter, Imagama or Kawakami, this classification systematizes data according not only to the spatial disposition of the hemivertebrae, but also to the balance of the deformity. In conclusion, this classification of congenital scoliosis has a practical, diagnostic, therapeutical and prognostic use.

  4. Medullary sponge kidney associated with congenital hemihypertrophy.

    PubMed

    Indridason, O S; Thomas, L; Berkoben, M

    1996-08-01

    Medullary sponge kidney is a developmental disorder characterized by ectatic and cystic malformation of the collecting ducts and tubules. Clinical manifestations include urinary tract infections, renal stones, and hematuria. It can be associated with other developmental disorders. A case of medullary sponge kidney associated with congenital hemihypertrophy, complicated by nephrocalcinosis and nephrolithiasis, is reported here.

  5. [Congenital left sinus of Valsalva aneurysm].

    PubMed

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

    1991-01-01

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

  6. Mental Imagery in Congenitally Blind Children.

    ERIC Educational Resources Information Center

    Anderson, David W.

    1986-01-01

    A study explored the nature of representational thought in 10 congenitally blind three- to nine-year-olds through interviews during which the subjects defined and described objects and later identified similar objects. Results suggested that blind children should be taught appropriate or systematic methods for tactually obtaining information. (CB)

  7. Amblyopia Associated with Congenital Facial Nerve Paralysis.

    PubMed

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

    2016-01-01

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

  8. Genetics Home Reference: congenital mirror movement disorder

    MedlinePlus

    ... or Free article on PubMed Central Peng J, Charron F. Lateralization of motor control in the human ... Hince P, Diab S, Sharafaddinzadeh N, Chouinard S, Théoret H, Charron F, Rouleau GA. Mutations in DCC cause congenital ...

  9. [Neonatal curettage of giant congenital nevi].

    PubMed

    Michel, J L; Laborde-Milaa Roux, V; Chavrier, Y; Roux, V; Metafiot, H; Chalencon, F; Cambazard, F

    2000-01-01

    All agree upon the need for early treatment of giant congenital nevi, basically because of the risk of melanoma degeneration, estimated at about 5 p. 100. Another reason is the cosmetic, psychological and social impact of such nevi. The aim of this study was to assess neonatal curettage of giant congenital nevi as an alternative to classical surgery. Between 1996 and 1999, the curettage technique was used in 14 newborns with giant congenital nevi. Three nevi were located on the scalp, 4 on lower limbs and 7 on the trunk with a jacket configuration in 1 case and a cape configuration in 4. Curettage achieved 70-95 p. 100 clearing of the giant nevi in 10 of the 14 children. Four of the children developed hypertrophic scar tissue which resolved with time. Secondary hair growth was observed in 5 cases. Outcome was better when the curettage was performed very early (before 2 weeks of life). Curettage is a surface technique proposed when surgical excision cannot be performed because the surface is too large or the localization is incompatible with surgery. Curettage is a simple low-cost technique which provides particularly satisfactory cosmetic results for very extensive giant congenital nevi. The risk of malignant transformation is greatly reduced although not totally. Regular clinical surveillance under conditions greatly improved by the clearing should help reduce the risk.

  10. Why prevent, diagnose and treat congenital toxoplasmosis?

    PubMed Central

    McLeod, Rima; Kieffer, Francois; Sautter, Mari; Hosten, Tiffany; Pelloux, Herve

    2009-01-01

    Evidence that prevention, diagnosis and treatment of toxoplasmosis is beneficial developed as follows: antiparasitic agents abrogate Toxoplasma gondii tachyzoite growth, preventing destruction of infected, cultured, mammalian cells and cure active infections in experimental animals, including primates. They treat active infections in persons who are immune-compromised, limit destruction of retina by replicating parasites and thereby treat ocular toxoplasmosis and treat active infection in the fetus and infant. Outcomes of untreated congenital toxoplasmosis include adverse ocular and neurologic sequelae described in different countries and decades. Better outcomes are associated with treatment of infected infants throughout their first year of life. Shorter intervals between diagnosis and treatment in utero improve outcomes. A French approach for diagnosis and treatment of congenital toxoplasmosis in the fetus and infant can prevent toxoplasmosis and limit adverse sequelae. In addition, new data demonstrate that this French approach results in favorable outcomes with some early gestation infections. A standardized approach to diagnosis and treatment during gestation has not yet been applied generally in the USA. Nonetheless, a small, similar experience confirms that this French approach is feasible, safe, and results in favorable outcomes in the National Collaborative Chicago-based Congenital Toxoplasmosis Study cohort. Prompt diagnosis, prevention and treatment reduce adverse sequelae of congenital toxoplasmosis. PMID:19430661

  11. Congenital Cystic Malformation of the Bile Ducts

    PubMed Central

    Hogarth, Jean; Laird, R. C.

    1966-01-01

    A 20-year-old woman had a cyst of the proximal part of the common bile duct and a cyst of the left hepatic duct; these lesions were diagnosed preoperatively by intravenous cholangiography and successfully operated upon. At the time of writing, she has been followed up for one year. Congenital defects in the biliary system are rare and, in a review of the literature, only two cases were found similar to this one. It is generally accepted that these lesions are congenital, but the exact pathogenesis is unknown. Alonso-Lej, Rever and Pessagno2 reviewed the literature in 1959 and found 403 authentic congenital cysts of the hepatic ducts. The most common congenital defect is a single choledochal cyst of the lower end of the common bile duct. Pain, jaundice and tumour are the main symptoms. Until the advent of intravenous cholangiography, these lesions were seldom recognized preoperatively. Means of operative repair as well as complications and prognosis are reviewed. ImagesFig. 1Fig. 2Fig. 3 PMID:5937201

  12. Wayfinding Information for Congenitally Blind Individuals.

    ERIC Educational Resources Information Center

    Passini, R.; And Others

    1988-01-01

    Fifteen congenitally blind subjects were involved in a route-finding experiment in a complex architectural setting. Compared to sighted controls, subjects planned the journey in more detail, formulated more decisions, and used more units of information. On a cognitive mapping exercise, the blind subjects performed virtually as well as sighted…

  13. Congenital pancreatic anomalies, variants, and conditions.

    PubMed

    Alexander, Lauren F

    2012-05-01

    Understanding pancreatic development and the congenital anomalies and variants that result from alterations in normal development allows for better recognition of these anomalies at diagnostic imaging. This article reviews normal pancreatic embryology and anatomy, and the appearance of the more common developmental anomalies and ductal variants, with emphasis on computed tomography and magnetic resonance imaging. Common mimics of masses are also covered.

  14. [Unilateral congenital aplasia of the submandibular gland].

    PubMed

    Damar, Murat; Kalaycı, Cem Burak; Bekar, Ulkü; Turhan, Bünyamin

    2013-01-01

    Aplasia of the major salivary glands is very uncommon, whereas isolated aplasia of unilateral submandibular gland is even rarer. In this article, we report a 55-year-old female case in whom unilateral aplasia of the left submandibular gland was detected incidentally by ultrasonography with no other congenital comorbidities in the light of literature data.

  15. Congenital glioblastoma coexisting with vascular developmental anomaly.

    PubMed

    Laure-Kamionowska, Milena; Szymanska, Krystyna; Biekiesinska-Figatowska, Monika; Gierowska-Bogusz, Barbara; Michalak, Elżbieta; Klepacka, Teresa

    2013-01-01

    Congenital central nervous tumours form a unique group of neoplasms. They are different from other tumour groups not only due to the onset time but also to their histopathology, anatomic location, and biologic behaviour. Congenital glioblastoma is one of the rarest types of congenital brain tumours and is uncommon in the prenatal period. We report a rare case of congenital glioblastoma detected prenatally by ultrasound examination and magnetic resonance imaging at 26 gestational weeks. Based on MRI findings and consultation of a team of specialists, pregnancy was terminated at 28 weeks. The newborn presented hydrops foetal. The child died shortly after birth due to cardiorespiratory insufficiency. At autopsy a large tumour with a spongy-like appearance was found. The tumour involved nearly the whole right cerebral hemisphere and led to marked hydrocephalus. In the histological and immunohistochemical examination, the tumour presented features of glioblastoma. Neoplastic cells were immunopositive for GFAP, S-100 protein and negative for neuronal markers. Frequent mitoses and high MIB-1 labelling index were seen in the tumour areas. The coexistence of tumour and vascular developmental anomaly was stated. The conglomerates of numerous, distended, thin-walled foetal-like blood vessels were located beside the tumour tissue, which presented disturbance in differentiation and maturation of the vascular net. Such coexistence of malignant glioma with vascular developmental anomaly is unique.

  16. The adult patient with congenital heart disease.

    PubMed

    Baum, V C

    1996-02-01

    In adults with congenital heart disease who are confronted with noncardiac surgery, perioperative risks can be reduced, often appreciably, when problems inherent to this patient population are anticipated. The first necessity is to clarify the diagnosis and to be certain that appropriate information is obtained from a cardiologist with adequate knowledge of congenital heart disease in adults. Physiology and anatomy can vary significantly among patients who superficially carry identical diagnoses. Elective noncardiac surgery should be preceded by clinical assessment including review of clinical and laboratory data and securing the results of necessary diagnostic studies. Preoperative assessment should be performed far enough in advance of the anticipated date of surgery to allow critical assessment of the data and potential discussions with colleagues. Appropriate cardiovascular laboratory studies to be obtained or reviewed include electrocardiograms, chest radiographs, echocardiograms, and cardiac catheterization data, which may include specialized intracardiac electrophysiologic testing. Congenital heart disease in adults is a new and evolving area of special interest and expertise in cardiovascular medicine. Multidisciplinary centers for the care of these patients are being developed. The 22nd Bethesda Conference recommended that these centers include among their consultants anesthesiologists with special expertise in managing patients with congenital heart disease. These anesthesiologists can have the option of serving either as the attending anesthesiologists when patients require noncardiac surgery or as consultants and resource individuals to other anesthesiologists.

  17. Esophageal duplication and congenital esophageal stenosis.

    PubMed

    Trappey, A Francois; Hirose, Shinjiro

    2017-04-01

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

  18. Congenital Disorders of Glycosylation and Intellectual Disability

    ERIC Educational Resources Information Center

    Wolfe, Lynne A.; Krasnewich, Donna

    2013-01-01

    The congenital disorders of glycosylation (CDG) are a rapidly growing group of inborn errors of metabolism that result from defects in the synthesis of glycans. Glycosylation is a major post-translational protein modification and an estimated 2% of the human genome encodes proteins for glycosylation. The molecular bases for the current 60…

  19. Congenital fibrosis of the extraocular muscles.

    PubMed

    Cooymans, Pascale; Al-Zuhaibi, Sana; Al-Senawi, Rana; Ganesh, Anuradha

    2010-05-01

    Congenital fibrosis of the extraocular muscles (CFEOM) describes a group of rare congenital eye movement disorders that result from the dysfunction of all or part of the oculomotor (CN 3) and the trochlear (CN 4) nerves, and/or the muscles these nerves innervate. To describe the clinical and neuro-radiological findings in three patients with CFEOM and review literature with respect to clinical features, genetics and management of this condition. A retrospective chart review was performed of three Omani patients who had been diagnosed with CFEOM in our institution. All patients had undergone standardized orthoptic and ocular evaluations and magnetic resonance imaging (MRI) of the orbits and brain. The three patients (age range nine months - 10 years) presented a history of congenital strabismus. All patients had severe bilateral ptosis and mild to moderate visual impairment secondary to the ptosis and astigmatism. Two of three patients demonstrated a positive jaw-winking phenomenon. A moderate to large angle exotropia with varying amount of hypotropia and limitations of almost all the extra ocular muscles was noted. Patient 3 was also developmentally delayed. MRI brain and orbit showed abnormalities of the extraocular muscles in two patients and brain malformation in one patient. CFEOM is a rare, congenital, and non-progressive disorder with multiple extra ocular muscle restrictions. CFEOM can be associated with neuro-radiological abnormalities; its diagnosis and classification is defined by clinical characteristics and genetics. Options for treatment are limited and difficult.

  20. Congenital anomalies: hospitalization in a pediatric unit.

    PubMed

    Polita, Naiara Barros; Ferrari, Rosângela Aparecida P; de Moraes, Priscila Santa; Sant'Anna, Flávia Lopes; Tacla, Mauren Teresa G M

    2013-06-01

    To analyze the profile of children with congenital anomalies admitted to a pediatric unit. This is a quantitative and retrospective research. The sample consisted of records of children aged from 0 to 12 years old who were hospitalized in the pediatric unit of the University Hospital of Londrina, Paraná, Southern Brazil, from 2007 to 2009. Data were collected by chart review processed in the Epi-Info® program, and they were submitted to descriptive statistical analysis. There were 282 first admissions of children with congenital anomalies. Of these, 130 (46.0%) required readmission totaling therefore 412 hospitalizations. The mean stay was three days. There was a male predominance, and the age range was from three to seven years old. The most frequent congenital anomalies were in the genital and urinary systems (19.6%), followed by cleft lip and palate (17.3%), and those of the circulatory system (16.2%). There were 269 surgical procedures to correct there anomalies. This study underscores the epidemiological importance of congenital malformations, highlighting the need to prevent and control the triggering factors.